AiPD: Autoinhibited Protein Database

Q7Z3C6

Gene name	ATG9A
Protein name	Autophagy-related protein 9A
Names	APG9-like 1, mATG9
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79065
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-49 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-49 (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

6 structures for Q7Z3C6

Entry ID	Method	Resolution	Chain	Position	Source
6WQZ	EM	280 A	A/B/C/D/E/F	1-688	PDB
6WR4	EM	290 A	A/B/C	1-839	PDB
7JLO	EM	340 A	A/B/C	1-578	PDB
7JLP	EM	340 A	A/B/C	1-578	PDB
7JLQ	EM	400 A	A/B/C	1-578	PDB
AF-Q7Z3C6-F1	Predicted				AlphaFoldDB

564 variants for Q7Z3C6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs781695505 CA2120553	2	A>S		No	ClinGen ExAC gnomAD
rs1408842290 CA350669558	2	A>V		No	ClinGen TOPMed
rs371473432 CA2120548	9	Q>R		No	ClinGen ESP ExAC gnomAD
rs1366445495 CA350669421	10	R>C		No	ClinGen TOPMed gnomAD
TCGA novel	10	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1259854610 CA350669418	10	R>L		No	ClinGen gnomAD
TCGA novel	12	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA65967763 rs948421502	13	A>D		No	ClinGen TOPMed
CA2120547 rs752502068	14	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1230499514 CA350669311	16	S>G		No	ClinGen TOPMed
COSM1530858 rs1276938510 CA350669209	19	P>S	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA65967758 rs905548950	20	P>A		No	ClinGen Ensembl
CA350669024 rs1283528533	26	L>F		No	ClinGen gnomAD
CA2120544 rs753711418	29	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1399059907 CA350668967	30	A>P		No	ClinGen gnomAD
rs1304493000 CA350668944	31	E>K		No	ClinGen gnomAD
rs1423287290 CA350668911	32	G>E		No	ClinGen gnomAD
rs992870466 CA65967729	34	K>R		No	ClinGen TOPMed
CA2120520 rs377374843	36	P>R		No	ClinGen ESP ExAC gnomAD
CA2120517 rs180953382	40	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759761633 CA2120519	40	I>T		No	ClinGen ExAC TOPMed gnomAD
CA350668491 rs1187695543	45	L>I		No	ClinGen TOPMed
TCGA novel	46	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771455539 CA2120513	49	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2120489 rs761159469	50	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2120488 rs773940587	51	Y>*		No	ClinGen ExAC gnomAD
CA350667652 rs1247269009	54	H>Y		No	ClinGen gnomAD
rs1438640743 CA350667606	57	N>S		No	ClinGen TOPMed
rs1223088763 CA350667564	60	T>I		No	ClinGen gnomAD
rs1398973825 CA350667521	63	L>F		No	ClinGen gnomAD
CA2120486 rs750805938	64	I>M		No	ClinGen ExAC TOPMed gnomAD
CA2120484 rs765623753	65	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1321841101 CA350667423	69	E>K		No	ClinGen Ensembl
rs754330247 CA2120455	71	M>I		No	ClinGen ExAC gnomAD
CA2120481 rs757225337 COSM1405596	71	M>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs561560814 CA2120454	73	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2120453 rs757599695	73	F>L		No	ClinGen ExAC gnomAD
rs1174310233 CA350666973	78	A>V		No	ClinGen TOPMed
CA2120452 rs752101679	81	T>I		No	ClinGen ExAC gnomAD
rs1176737944 CA350666757	86	C>F		No	ClinGen gnomAD
rs1559246415 CA350666771	86	C>R		No	ClinGen Ensembl
CA2120448 rs764945140 COSM1183916	87	V>M	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs776198916 CA2120446	89	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1191108684 CA350666685	89	Y>H		No	ClinGen gnomAD
CA350666527 rs1234444604	94	A>V		No	ClinGen TOPMed
CA65963769 rs1034866352	95	N>K		No	ClinGen TOPMed
CA350666505 rs1317709603	95	N>S		No	ClinGen gnomAD
CA2120443 CA350666465 rs773124926	97	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1559246339 CA350666447	98	V>A		No	ClinGen Ensembl
CA65963737 rs939242965	99	N>S		No	ClinGen Ensembl
CA2120440 rs756231746	101	S>C		No	ClinGen ExAC TOPMed gnomAD
CA2120439 rs756231746	101	S>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	102	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350666361 rs1194039873	102	L>P		No	ClinGen TOPMed
rs746070247 CA2120438	103	H>D		No	ClinGen ExAC gnomAD
CA65963720 rs963455086	103	H>L		No	ClinGen TOPMed gnomAD
rs200336085 CA2120437	103	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs963455086 CA350666343	103	H>R		No	ClinGen TOPMed gnomAD
rs371147861 CA65963688	104	P>A		No	ClinGen Ensembl
rs751882492 CA2120435	105	T>P		No	ClinGen ExAC TOPMed gnomAD
CA350665925 rs1178821487	106	E>K		No	ClinGen TOPMed gnomAD
CA350665931 rs1178821487	106	E>Q		No	ClinGen TOPMed gnomAD
CA65963680 rs1014991320	107	P>L		No	ClinGen TOPMed
CA2120433 rs117094218	108	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2120430 rs188001238	114	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA2120428 rs766008146	115	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2120426 rs760447863	117	L>V		No	ClinGen ExAC gnomAD
CA350665662 rs1177345896	117	L>W		No	ClinGen gnomAD
CA2120425 rs773017043	118	P>L		No	ClinGen ExAC gnomAD
CA2120424 rs771945691	119	A>T		No	ClinGen ExAC gnomAD
rs1400286151 CA350665610	120	Q>E		No	ClinGen TOPMed
CA2120422 rs774310794	123	S>G		No	ClinGen ExAC TOPMed gnomAD
CA2120407 rs374893662	126	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2120406 rs767265739	129	N>I		No	ClinGen ExAC TOPMed gnomAD
CA65963190 rs920562193	130	G>A		No	ClinGen TOPMed gnomAD
rs774257447 CA2120404	133	I>T		No	ClinGen ExAC gnomAD
rs1338514895 CA350665153	133	I>V		No	ClinGen gnomAD
CA65963188 rs201763658	134	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs201763658 CA2120403	134	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1378430417 CA350665096	136	L>V		No	ClinGen TOPMed
CA2120401 rs200773631	137	V>A		No	ClinGen ExAC TOPMed gnomAD
CA350665083 rs1224205259	137	V>L		No	ClinGen TOPMed
CA2120400 rs771135572	138	I>V		No	ClinGen ExAC gnomAD
rs778183939 CA2120398	141	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1368293902 CA350664993	142	F>L		No	ClinGen gnomAD
CA65963170 rs550081141	144	I>T		No	ClinGen gnomAD
CA2120397 rs183282366	145	H>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2120394 rs115595838	146	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2120395 rs779422262	146	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2120392 rs779405985	150	F>S		No	ClinGen ExAC
rs1483214443 CA350664774	151	I>T		No	ClinGen TOPMed
rs1178229392 CA350664758	152	Y>C		No	ClinGen TOPMed
CA65963134 rs900483654	153	N>K		No	ClinGen TOPMed
CA2120391 rs755687814	154	I>S		No	ClinGen ExAC
CA350664719 rs1437320615	154	I>V		No	ClinGen TOPMed
rs767214263 CA2120389	158	W>*		No	ClinGen ExAC gnomAD
CA350664648 rs1395364612	158	W>R		No	ClinGen TOPMed
rs751360906 CA2120387	162	S>F		No	ClinGen ExAC TOPMed gnomAD
rs751360906 CA350664547	162	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs150247832 CA2120385	165	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150247832 CA350664499	165	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs368702987 CA2120384	166	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2120382 rs760906329	167	A>D		No	ClinGen ExAC gnomAD
CA65963074 rs968964555	169	R>C		No	ClinGen TOPMed
COSM238882 CA2120381 rs114268182	169	R>H	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1385643364 CA350664414	170	I>V		No	ClinGen gnomAD
CA2120380 rs772440768	172	M>V		No	ClinGen ExAC TOPMed gnomAD
rs760429715 CA65962801	173	S>C		No	ClinGen gnomAD
rs1179216736 CA350664219	175	L>R		No	ClinGen TOPMed gnomAD
rs1458905631 CA350664217	176	P>A		No	ClinGen gnomAD
CA2120352 rs770289897	176	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA350664206 rs1442712257	177	Y>H		No	ClinGen gnomAD
CA2120349 rs576470331	179	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1310591919 CA350664160	180	W>*		No	ClinGen gnomAD
TCGA novel	181	Q>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350664109 rs1375125981	182	E>G		No	ClinGen gnomAD
TCGA novel	183	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1449215150 CA350664073	184	Q>R		No	ClinGen gnomAD
CA2120344 rs765202851	185	A>S		No	ClinGen ExAC gnomAD
CA2120343 rs755001890	185	A>V		No	ClinGen ExAC gnomAD
rs1413942878 CA350664034	186	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1188359951 CA350664040	186	R>W		No	ClinGen TOPMed
rs1385817129 CA350664027	187	I>V		No	ClinGen gnomAD
COSM1016641 rs201418627 CA2120340	188	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs762049045 CA2120338	190	T>M		No	ClinGen ExAC gnomAD
rs774420690 CA350663895	192	K>E		No	ClinGen ExAC gnomAD
CA2120337 rs774420690	192	K>Q		No	ClinGen ExAC gnomAD
rs1401525497 CA350663868	193	E>G		No	ClinGen TOPMed
rs1574830926 CA350663842	194	H>P		No	ClinGen Ensembl
CA350663706 rs1358824002	201	R>C		No	ClinGen TOPMed
rs1377960529 CA350663699	201	R>H		No	ClinGen gnomAD
CA350663688 rs1441312756	202	E>D		No	ClinGen gnomAD
rs1157867843 CA350663652	204	T>R		No	ClinGen gnomAD
CA350663588 rs1219421950	206	L>Q		No	ClinGen TOPMed gnomAD
rs750850664 CA65962660	208	I>V		No	ClinGen Ensembl
rs1574830889 CA350663545	209	Y>S		No	ClinGen Ensembl
rs1574830880 CA350663527	210	H>P		No	ClinGen Ensembl
CA2120335 rs763159203	211	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA350663470 rs1229202974	212	I>V		No	ClinGen gnomAD
rs1424054629 CA350663444	213	L>F		No	ClinGen TOPMed gnomAD
CA350663442 rs1424054629	213	L>V		No	ClinGen TOPMed gnomAD
CA65962596 rs1034708794	215	F>L		No	ClinGen Ensembl
CA350663309 rs1447641068	218	Y>C		No	ClinGen gnomAD
rs760014094 CA2120332	219	M>T		No	ClinGen ExAC gnomAD
rs770236979 CA2120333	219	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1417946009 CA350663265	220	V>L		No	ClinGen gnomAD
CA350663236 rs1158002906	221	A>V		No	ClinGen gnomAD
rs746589909 CA2120329	224	N>S		No	ClinGen ExAC gnomAD
CA65962577 rs80088251	226	S>P		No	ClinGen Ensembl
CA65962569 rs1003670859	227	L>F		No	ClinGen gnomAD
rs771764686 CA2120327	227	L>P		No	ClinGen ExAC gnomAD
CA2120325 rs200810317	231	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2120324 rs374721400	231	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350663051 rs1223002882	232	F>L		No	ClinGen gnomAD
rs186635663 CA2120322	233	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs186635663 CA65962514	233	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2120321 rs367857285	233	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA350663010 rs1440688420	234	L>V		No	ClinGen TOPMed
rs183286778 CA2120317	238	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA65962443 rs1038954414	238	G>V		No	ClinGen Ensembl
CA2120318 rs183286778	238	G>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2120314 rs777111123	244	T>A		No	ClinGen ExAC gnomAD
rs943320455 CA65962379	245	R>C		No	ClinGen Ensembl
rs771444739 CA2120313 COSM719913	245	R>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA65962363 rs964785045	255	L>F		No	ClinGen TOPMed gnomAD
rs747801473 CA2120309	261	S>C		No	ClinGen ExAC gnomAD
rs768570120 CA2120307	262	L>V		No	ClinGen ExAC gnomAD
CA65962335 rs911888306	265	N>S		No	ClinGen TOPMed
CA350662570 rs1245490450	269	L>F		No	ClinGen gnomAD
rs368326447 CA65962316	270	K>E		No	ClinGen ESP TOPMed
rs749102423 CA2120306	270	K>R		No	ClinGen ExAC gnomAD
CA2120304 rs375759389	272	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA350662497 rs1251183599 COSM1016640	275	R>C	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA350662492 rs1285435515	275	R>H		No	ClinGen TOPMed gnomAD
CA2120302 rs777878102	276	G>W		No	ClinGen ExAC TOPMed gnomAD
CA350662430 rs1310892312	279	R>Q		No	ClinGen TOPMed gnomAD
CA350662403 rs1439844693	281	E>G		No	ClinGen TOPMed gnomAD
CA2120299 rs765508339	281	E>K		No	ClinGen ExAC gnomAD
CA350662387 rs1574830560	282	L>R		No	ClinGen Ensembl
rs1559245433 CA350662370	283	A>P		No	ClinGen Ensembl
rs1226395938 CA350662341	284	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA350662324 rs61747685	285	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA65962224 rs61747685	285	R>G		No	ClinGen gnomAD
CA2120298 rs759827389	285	R>H		No	ClinGen ExAC gnomAD
rs1559245419 CA350662248	288	N>S		No	ClinGen Ensembl
CA350662232 rs1176073294	289	R>C		No	ClinGen gnomAD
COSM3044651 CA2120296 rs766744605	289	R>H	pancreas Variant assessed as Somatic; 0.0001396 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA65962219 rs766744605	289	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2120293 rs767043955	293	I>T		No	ClinGen ExAC gnomAD
CA2120294 rs773645781	293	I>V		No	ClinGen ExAC TOPMed gnomAD
CA350662110 rs1240477333	295	I>F		No	ClinGen gnomAD
CA2120292 rs761300429	295	I>T		No	ClinGen ExAC TOPMed gnomAD
CA2120290 rs549042911	296	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA65962162 rs57664536	303	L>V		No	ClinGen Ensembl
CA350661958 rs1251603864	305	L>V		No	ClinGen TOPMed
CA350661941 rs1377352170	306	I>L		No	ClinGen gnomAD
CA65962153 rs906317927	310	L>R		No	ClinGen TOPMed
CA65962133 rs992127535	311	Y>F		No	ClinGen Ensembl
CA2120285 rs564912563	315	S>I		No	ClinGen ExAC gnomAD
CA2120286 rs564912563	315	S>N		No	ClinGen ExAC gnomAD
CA65962111 rs759078193	318	E>Q		No	ClinGen TOPMed gnomAD
rs1356978674 CA350661751	319	V>L		No	ClinGen gnomAD
CA350661706 rs1420905709	322	R>Q		No	ClinGen gnomAD
CA65962097 rs886764360	324	P>L		No	ClinGen TOPMed
CA2120282 rs779047144	326	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	329	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1183860730 CA350661607	330	R>C		No	ClinGen TOPMed gnomAD
CA2120281 rs755211778	330	R>H		No	ClinGen ExAC gnomAD
rs866013931 CA65962072	331	C>F		No	ClinGen Ensembl
rs1255547206 CA350661596	331	C>R		No	ClinGen gnomAD
CA350661561 rs1210075473	333	S>A		No	ClinGen gnomAD
TCGA novel	333	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350661544 rs1354246574	335	Y>C		No	ClinGen gnomAD
rs1424772157 CA350661537	336	G>C		No	ClinGen TOPMed
CA2120280 rs754159145	337	R>C		No	ClinGen ExAC TOPMed gnomAD
rs766730899 COSM1016638 CA2120279	337	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1400157486 CA350661505	338	C>W		No	ClinGen TOPMed
rs954840628 CA65962044	339	Y>S		No	ClinGen Ensembl
CA2120278 rs370223751	341	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA65962038 rs931204688	341	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA2120275 rs761352054	349	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs774022899 CA2120274	351	Q>H		No	ClinGen ExAC gnomAD
rs1419787122 CA350661165	353	R>C		No	ClinGen gnomAD
CA65962033 rs1026050748	355	N>S		No	ClinGen TOPMed gnomAD
rs1277520187 CA350661054	356	R>C		No	ClinGen TOPMed
rs570750110 CA2120272 COSM210051	356	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs775055046 CA2120271	361	A>T		No	ClinGen ExAC gnomAD
CA65961998 rs374035695	362	S>F		No	ClinGen ESP TOPMed
rs769617716 CA2120270	365	M>V		No	ClinGen ExAC gnomAD
rs745716494 CA2120269	366	N>Y		No	ClinGen ExAC gnomAD
CA350660624 rs1267302707	368	F>C		No	ClinGen TOPMed
rs1194405764 CA350660563	369	L>F		No	ClinGen gnomAD
CA350660538 rs1209444572	370	S>L		No	ClinGen TOPMed
rs201218710 CA2120265	374	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs369827739 CA2120262	381	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs17855976 CA65961937	381	A>T		No	ClinGen Ensembl
CA65961936 rs369827739	381	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs376440161 CA2120260	384	A>T		No	ClinGen ESP ExAC gnomAD
rs768021337 CA2120259	385	G>A		No	ClinGen ExAC TOPMed
rs768021337 CA65961928	385	G>D		No	ClinGen ExAC TOPMed
rs757871025 CA65961900	387	I>F		No	ClinGen ExAC TOPMed gnomAD
rs757871025 CA2120258	387	I>V		No	ClinGen ExAC TOPMed gnomAD
CA350659929 rs1338296312	389	A>T		No	ClinGen gnomAD
CA2120256 rs763675302	391	L>F		No	ClinGen ExAC gnomAD
CA65961891 rs1003891496	392	I>L		No	ClinGen TOPMed
CA350659810 rs1559245165	393	A>V		No	ClinGen Ensembl
CA2120254 rs752389669	394	L>F		No	ClinGen ExAC gnomAD
rs752389669 CA65961868	394	L>V		No	ClinGen ExAC gnomAD
CA350659776 rs1294853088	396	I>V		No	ClinGen gnomAD
CA2120253 COSM1614388 rs764800423	397	Y>C	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2120251 rs776309417	399	E>K		No	ClinGen ExAC TOPMed gnomAD
CA350659703 rs1287037860	400	D>G		No	ClinGen TOPMed
CA2120246 rs749336185	405	E>D		No	ClinGen ExAC gnomAD
CA350659588 rs1466994267	406	H>L		No	ClinGen gnomAD
rs1211362828 CA350659595	406	H>Y		No	ClinGen gnomAD
CA2120243 rs746205802	411	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs375131249 CA65961755	413	L>F		No	ClinGen Ensembl
rs1326141662 CA350659313	416	V>G		No	ClinGen gnomAD
CA2120238 rs757913888	418	V>M		No	ClinGen ExAC TOPMed gnomAD
CA65961717 rs200848767	420	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200848767 CA2120236	420	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350659200 rs1417483708	421	C>Y		No	ClinGen TOPMed
CA2120223 rs369323636	425	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA65961626 rs973099731	426	P>L		No	ClinGen TOPMed gnomAD
CA2120221 rs759612416	427	D>N		No	ClinGen ExAC TOPMed gnomAD
rs970934743 CA65961611	432	F>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA65961610 rs1025077974	437	L>Q		No	ClinGen TOPMed
CA350658839 rs1280202118	437	L>V		No	ClinGen gnomAD
CA2120218 rs754562047	439	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2120217 rs199900351	439	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs755849358 CA2120215	440	V>M		No	ClinGen ExAC TOPMed gnomAD
rs761625801 CA350658743	443	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2120212 rs761625801	443	A>T		No	ClinGen ExAC TOPMed gnomAD
CA350658728 rs1311073006	444	H>Y		No	ClinGen gnomAD
rs183583600 CA2120211	445	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765218125 CA2120210	447	Y>H		No	ClinGen ExAC gnomAD
CA350658630 rs1199797764	449	P>A		No	ClinGen TOPMed
rs995220633 CA65961555	449	P>R		No	ClinGen TOPMed gnomAD
CA350658583 rs1157621378	451	H>Q		No	ClinGen gnomAD
rs759728426 CA2120209	451	H>R		No	ClinGen ExAC gnomAD
CA350658545 rs1472882754	453	Q>R		No	ClinGen gnomAD
CA2120207 rs771291246	457	H>Y		No	ClinGen ExAC gnomAD
CA350658462 rs1485074338	458	R>C		No	ClinGen TOPMed gnomAD
rs1485074338 CA350658464	458	R>G		No	ClinGen TOPMed gnomAD
CA2120206 rs747327148	458	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1478769059 CA350658453	459	S>P		No	ClinGen TOPMed
rs772524490 CA2120204	460	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1284089180 CA350658409	461	T>I		No	ClinGen TOPMed gnomAD
CA2120200 rs748814135	462	R>P		No	ClinGen ExAC TOPMed gnomAD
CA65961477 rs748814135	462	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1041538685 CA65961478	462	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs755797807 CA2120198	464	E>K		No	ClinGen ExAC TOPMed gnomAD
CA350658328 rs1345242355	466	A>S		No	ClinGen TOPMed
CA2120196 rs767279890	467	Q>H		No	ClinGen ExAC gnomAD
CA2120195 rs757133619	468	L>F		No	ClinGen ExAC TOPMed gnomAD
COSM174917 rs190418139 CA2120166	481	L>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1219799145 CA350657930	483	P>S		No	ClinGen gnomAD
rs769575224 CA65961360	486	T>S		No	ClinGen Ensembl
CA2120164 rs761747353	488	L>F		No	ClinGen ExAC TOPMed gnomAD
rs775609227 CA65961359	491	I>T		No	ClinGen Ensembl
CA65961357 rs772093283	492	F>I		No	ClinGen TOPMed gnomAD
CA350657794 rs1299558413	493	C>S		No	ClinGen TOPMed gnomAD
rs1299558413 CA350657791	493	C>Y		No	ClinGen TOPMed gnomAD
rs1353470433 CA350657778	495	R>C		No	ClinGen gnomAD
rs780649812 CA2120161	495	R>H		No	ClinGen ExAC TOPMed gnomAD
rs770638733 CA2120160	497	R>Q		No	ClinGen ExAC gnomAD
rs1393817448 CA350657768	497	R>W		No	ClinGen gnomAD
rs1240223730 CA350657760	498	A>D		No	ClinGen gnomAD
rs1440728916 CA350657765	498	A>T		No	ClinGen TOPMed gnomAD
rs370170859 CA65961339	502	I>V		No	ClinGen ESP TOPMed
rs1212339912 CA350657726	503	D>V		No	ClinGen gnomAD
COSM3838645 CA350657681 rs1349892462	506	R>*	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1559244747 CA350657667	507	N>S		No	ClinGen Ensembl
rs199801466 CA2120155	513	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2120153 rs750542062	518	T>I		No	ClinGen ExAC TOPMed gnomAD
CA2120151 rs186368413	520	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs186368413 CA2120152	520	S>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs905197642 CA65961294	526	V>I		No	ClinGen TOPMed gnomAD
rs1365968995 CA350657359	527	R>H		No	ClinGen TOPMed gnomAD
rs1365968995 CA350657356	527	R>L		No	ClinGen TOPMed gnomAD
CA2120148 rs763377305	533	Q>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	537	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1236436560 CA350654912	539	Q>K		No	ClinGen TOPMed gnomAD
rs1335501169 CA350654856	542	A>P		No	ClinGen TOPMed gnomAD
rs1273396792 CA350654824	544	V>M		No	ClinGen gnomAD
CA350654748 rs1420651007	548	A>G		No	ClinGen TOPMed
rs1218721133 CA350654590	557	L>R		No	ClinGen gnomAD
CA2120129 rs751803718	558	M>V		No	ClinGen ExAC gnomAD
rs764304845 CA350654550	559	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1381980139 CA350654512	561	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs200002062 CA2120126	563	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1235739181 CA350654443	565	P>L		No	ClinGen TOPMed
CA350654448 rs1235739181	565	P>R		No	ClinGen TOPMed
rs1384616332 CA350654399	568	Q>K		No	ClinGen TOPMed
CA350654381 rs1243292975	569	P>S		No	ClinGen TOPMed
CA350654345 rs1394036417	571	R>H		No	ClinGen gnomAD
CA350654340 rs1394036417	571	R>L		No	ClinGen gnomAD
rs1054294979 CA65960620	573	S>N		No	ClinGen gnomAD
rs760055298 CA2120124	580	L>F		No	ClinGen ExAC TOPMed
CA350654192 rs1190991502	581	K>E		No	ClinGen gnomAD
rs765897399 CA2120122	583	Q>E		No	ClinGen ExAC gnomAD
TCGA novel	583	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs988508313 CA65960561	585	Q>*		No	ClinGen TOPMed
rs376667493 CA2120120	586	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2120121 rs760166835	586	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1466815353 CA350654067	589	A>S		No	ClinGen gnomAD
rs2276635 VAR_021835 CA2120119	592	S>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs747915435 CA2120118	593	L>I		No	ClinGen ExAC gnomAD
CA2120117 rs573057796	593	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs747915435 CA350653974	593	L>V		No	ClinGen ExAC gnomAD
rs981450352 CA65960526	594	A>T		No	ClinGen TOPMed gnomAD
rs749239424 CA2120115	595	Q>P		No	ClinGen ExAC gnomAD
rs779923903 CA2120114	596	G>E		No	ClinGen ExAC gnomAD
rs777924428 CA2120112	597	G>A		No	ClinGen ExAC TOPMed gnomAD
rs777924428 CA350653931	597	G>D		No	ClinGen ExAC TOPMed gnomAD
rs777924428 CA2120111	597	G>V		No	ClinGen ExAC TOPMed gnomAD
CA350653925 COSM3838644 rs758648688	598	L>M	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs758648688 CA2120110	598	L>V		No	ClinGen ExAC TOPMed gnomAD
rs368938124 CA2120109	599	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs373678234 CA2120108	600	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2120107 rs755355157	601	E>A		No	ClinGen ExAC
CA350653890 rs754362059 CA2120106	602	N>K		No	ClinGen ExAC TOPMed gnomAD
rs766796034 CA2120105	604	L>F		No	ClinGen ExAC gnomAD
rs760171717 CA2120104	606	T>M		No	ClinGen ExAC TOPMed gnomAD
rs767179940 CA2120102	607	S>C		No	ClinGen ExAC gnomAD
rs761538048 CA2120101	608	I>V		No	ClinGen ExAC TOPMed gnomAD
rs768570243 CA350653771	612	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA350653721 rs1283119560	615	S>C		No	ClinGen gnomAD
CA65960323 rs1017018956	615	S>T		No	ClinGen Ensembl
CA350653619 rs1185162643	617	P>L		No	ClinGen TOPMed gnomAD
CA350653618 rs1185162643	617	P>R		No	ClinGen TOPMed gnomAD
CA350653622 rs1419470219	617	P>S		No	ClinGen TOPMed gnomAD
CA350653574 rs530808091	622	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2120076 rs530808091	622	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2120075 rs776607625	622	A>V		No	ClinGen ExAC gnomAD
rs1214617299 CA350653561	623	N>D		No	ClinGen gnomAD
CA2120074 rs772133830	625	V>A		No	ClinGen ExAC gnomAD
CA350653482 rs1232768462	628	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs935696364 CA65959966	628	S>P		No	ClinGen TOPMed
CA350653474 rs1270732997	629	S>C		No	ClinGen gnomAD
rs562044955 CA2120073	630	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA350653458 rs1396234373	631	R>Q		No	ClinGen TOPMed gnomAD
rs548518455 CA2120072	631	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350653448 rs1282768546	633	P>S		No	ClinGen TOPMed
rs780263236 CA2120068	637	R>G		No	ClinGen ExAC TOPMed gnomAD
CA65959941 rs925614797	637	R>K		No	ClinGen TOPMed gnomAD
CA2120067 rs756561763	638	D>A		No	ClinGen ExAC gnomAD
rs1223774464 CA350653416	638	D>E		No	ClinGen TOPMed
CA350653422 rs1338907510	638	D>N		No	ClinGen TOPMed
CA350653413 rs1294377933	639	L>P		No	ClinGen TOPMed
CA350653405 rs1247425124	640	Q>L		No	ClinGen TOPMed gnomAD
TCGA novel	641	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350653397 rs1469945984	641	G>V		No	ClinGen gnomAD
TCGA novel	643	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA65959933 rs6754398	643	R>M		No	ClinGen Ensembl
rs1312580418 CA350653382	644	H>Y		No	ClinGen Ensembl
rs1308199743 CA350653374	645	R>K		No	ClinGen TOPMed gnomAD
CA2120065 rs375326262	646	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA350653361 rs1190317229	647	E>A		No	ClinGen TOPMed
rs756771383 CA2120064	648	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2120062 rs763764062	649	A>T		No	ClinGen ExAC TOPMed gnomAD
CA350653347 rs1441391562	649	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1574827343 CA350653343	650	S>F		No	ClinGen Ensembl
CA350653339 rs1323526731	651	A>P		No	ClinGen gnomAD
CA2120061 rs762480185	653	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2120060 rs752441032	653	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2120059 rs764927279	654	S>F		No	ClinGen ExAC gnomAD
CA350653319 rs1174604625	655	F>L		No	ClinGen gnomAD
rs776480575 CA2120056	657	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1165274718 CA350653295	659	Q>E		No	ClinGen TOPMed gnomAD
CA2120054 VAR_055534 rs2276634	659	Q>H		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs918700226 CA65959852	660	P>L		No	ClinGen TOPMed
rs1202536839 CA350653289	660	P>T		No	ClinGen gnomAD
CA2120050 CA2120051 rs775852350	661	G>R		No	ClinGen ExAC TOPMed gnomAD
rs371062354 CA65959836	662	Q>H		No	ClinGen ESP TOPMed gnomAD
CA2120048 rs35171882	663	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs781745895 CA2120047	664	P>S		No	ClinGen ExAC gnomAD
CA2120045 rs747560440	665	T>A		No	ClinGen ExAC TOPMed gnomAD
CA2120046 rs747560440	665	T>P		No	ClinGen ExAC TOPMed gnomAD
CA350653205 rs1445977627	666	G>S		No	ClinGen TOPMed gnomAD
rs576908856 CA2120043	667	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2120044 rs545980763	667	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs373011228 CA65959807	669	H>N		No	ClinGen ESP TOPMed gnomAD
rs1451522985 CA350653150	670	S>R		No	ClinGen TOPMed
rs1393724498 CA350653109	672	M>T		No	ClinGen gnomAD
rs1436950007 CA350653116	672	M>V		No	ClinGen gnomAD
TCGA novel	673	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs78926557 CA2120022	677	V>G		No	ClinGen ExAC gnomAD
rs778377260 CA2120021	678	D>G		No	ClinGen ExAC gnomAD
COSM1752363 rs535770515 CA2120020	679	A>V	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA2120018 rs766152377	682	A>T		No	ClinGen ExAC gnomAD
CA2120015 rs767507809	685	G>E		No	ClinGen ExAC TOPMed gnomAD
rs750265419 CA2120016	685	G>R		No	ClinGen ExAC TOPMed gnomAD
CA2120014 rs762892930	688	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1322454980 CA350652591	692	Q>P		No	ClinGen TOPMed
rs373749489 CA2120013	694	Q>E		No	ClinGen ESP ExAC gnomAD
CA350652467 rs1204817229	696	L>M		No	ClinGen TOPMed
rs1479543997 CA350652298	701	Y>C		No	ClinGen TOPMed
rs773533598 CA2120007	703	S>A		No	ClinGen ExAC gnomAD
CA2120008 rs773533598	703	S>P		No	ClinGen ExAC gnomAD
rs1167133434 CA350652207	704	T>S		No	ClinGen gnomAD
TCGA novel	705	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350652100 rs1459972135	707	S>N		No	ClinGen gnomAD
rs747567905 CA2120005	707	S>R		No	ClinGen ExAC TOPMed gnomAD
CA350652042 rs1186814054	710	A>S		No	ClinGen gnomAD
TCGA novel	711	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2120004 rs369753732	712	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768200397 CA2120003	714	H>D		No	ClinGen ExAC gnomAD
CA350651961 rs1178740061	714	H>R		No	ClinGen TOPMed
TCGA novel	716	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	720	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350649907 rs1428889507	721	A>P		No	ClinGen TOPMed gnomAD
CA350649904 rs1428889507	721	A>S		No	ClinGen TOPMed gnomAD
rs1559242975 CA350649865	722	Q>R		No	ClinGen Ensembl
rs768091717 CA2119982	723	A>V		No	ClinGen ExAC gnomAD
rs1376695742 CA350649726	727	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1181954030 CA350649709	728	H>N		No	ClinGen gnomAD
CA350649683 rs1035397962	729	V>I		No	ClinGen TOPMed
CA65958689 rs1035397962	729	V>L		No	ClinGen TOPMed
rs1486204402 CA350649622	731	H>R		No	ClinGen gnomAD
CA2119980 rs779637846	731	H>Y		No	ClinGen ExAC gnomAD
CA2119979 rs769517669	732	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs201843079 CA2119978	732	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1345757281 CA350649580	733	R>Q		No	ClinGen gnomAD
COSM1565073 rs781020199 CA2119977	733	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA350649475 rs1344633723	737	E>G		No	ClinGen gnomAD
CA2119976 rs757060316	741	S>G		No	ClinGen ExAC TOPMed gnomAD
CA2119974 COSM1405591 rs777855989	742	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs540054081 CA2119973	744	D>H		No	ClinGen 1000Genomes ExAC gnomAD
CA2119972 rs753993322	745	E>G		No	ClinGen ExAC gnomAD
CA350649313 rs1352912914	745	E>K		No	ClinGen TOPMed
rs766664246 CA350649292	746	G>E		No	ClinGen ExAC TOPMed gnomAD
CA2119970 rs766664246	746	G>V		No	ClinGen ExAC TOPMed gnomAD
CA2119969 rs756324717	747	G>E		No	ClinGen ExAC gnomAD
CA2119968 rs750658342	748	E>*		No	ClinGen ExAC gnomAD
CA2119967 rs767908706	748	E>D		No	ClinGen ExAC gnomAD
CA350649252 rs1409038945	749	G>C		No	ClinGen gnomAD
rs200858282 CA2119965	750	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2119964 rs200858282	750	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2119963 rs762414116	751	R>Q		No	ClinGen ExAC gnomAD
rs936882792 CA65958529	751	R>W		No	ClinGen TOPMed gnomAD
rs1442159514 CA350649238	752	A>V		No	ClinGen gnomAD
CA350649217 rs1285239172	755	S>C		No	ClinGen gnomAD
TCGA novel	755	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2119961 rs769237954	756	I>S		No	ClinGen ExAC gnomAD
rs774950012 CA2119962	756	I>V		No	ClinGen ExAC gnomAD
rs770757454 CA65958489	757	P>S		No	ClinGen ExAC gnomAD
CA2119960 rs770757454	757	P>T		No	ClinGen ExAC gnomAD
rs370193046 CA2119959	758	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1183918 rs377367353 CA2119957	758	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA2119958 rs377367353	758	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1285839543 CA350649192	760	A>V		No	ClinGen gnomAD
CA2119954 rs748132718	763	P>L		No	ClinGen ExAC gnomAD
rs758437399 CA2119955	763	P>T		No	ClinGen ExAC gnomAD
rs1480808915 CA350649169	764	C>G		No	ClinGen TOPMed
CA350649155 rs1402151487	766	A>S		No	ClinGen gnomAD
CA350649146 rs1157833854	767	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1385970926 CA350649151	767	P>S		No	ClinGen gnomAD
CA2119952 rs370484215	768	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs780157416 CA2119953	768	R>W		No	ClinGen ExAC gnomAD
CA65958450 rs531645236	769	P>S		No	ClinGen TOPMed gnomAD
CA350649134 rs1243125832	770	G>E		No	ClinGen gnomAD
CA350649131 rs1463751808	771	A>T		No	ClinGen gnomAD
CA2119949 rs115193902	775	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350649103 rs1214430159	775	T>N		No	ClinGen gnomAD
rs537149923 CA2119947 COSM1405590	776	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA350649092 rs1452105910	777	L>P		No	ClinGen TOPMed gnomAD
rs1270607632 CA350649089	778	H>D		No	ClinGen gnomAD
rs1270607632 CA350649090	778	H>N		No	ClinGen gnomAD
CA350649086 rs1436974785	778	H>R		No	ClinGen gnomAD
CA350649072 rs1319417659	780	G>A		No	ClinGen gnomAD
rs1178875397 CA350649048	783	R>S		No	ClinGen gnomAD
CA2119945 rs776035970	784	R>C		No	ClinGen ExAC TOPMed gnomAD
rs764801042 CA2119944	784	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1405356918 CA350649040	785	Y>C		No	ClinGen gnomAD
rs770839898 CA65958405	785	Y>H		No	ClinGen gnomAD
rs1299298256 CA350649034	786	G>D		No	ClinGen TOPMed
rs776287843 CA2119942	786	G>S		No	ClinGen ExAC TOPMed gnomAD
CA350649021 rs1448003651	788	I>T		No	ClinGen gnomAD
CA350649017 rs1389807011	789	T>A		No	ClinGen gnomAD
CA350648965 rs1370469041	791	P>S		No	ClinGen gnomAD
CA2119914 rs768508644	792	G>D		No	ClinGen ExAC TOPMed gnomAD
rs749288489 CA2119913	794	V>G		No	ClinGen ExAC TOPMed gnomAD
CA350648939 rs1208371079	794	V>M		No	ClinGen TOPMed
rs1175563518 CA350648919	795	P>L		No	ClinGen gnomAD
CA2119912 rs781113831 COSM1660666	795	P>S	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA350648901 rs1444497913	797	V>I		No	ClinGen TOPMed
rs1185865896 CA350648864	800	H>Y		No	ClinGen TOPMed
CA2119911 rs771060640	801	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1045643538 CA65958094	803	R>L		No	ClinGen TOPMed gnomAD
rs1045643538 CA65958096	803	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs374721487 CA2119909	803	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	805	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350648795 rs1484084326	805	P>L		No	ClinGen gnomAD
rs200198240 CA2119906	807	G>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1317133092 CA350648759	808	G>E		No	ClinGen gnomAD
TCGA novel	808	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1574824141 CA350648751	809	W>G		No	ClinGen Ensembl
TCGA novel	812	D>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs114840649 CA2119905	813	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1269534790 CA350648690	813	G>R		No	ClinGen gnomAD
rs754417414 CA2119903	815	S>L		No	ClinGen ExAC TOPMed gnomAD
CA2119899 rs767302735	819	H>D		No	ClinGen ExAC gnomAD
CA350648599 rs1157088742	820	P>R		No	ClinGen gnomAD
CA65958009 rs983860717	821	E>D		No	ClinGen Ensembl
rs908233259 CA65958016	821	E>K		No	ClinGen Ensembl
CA65957995 rs1055956961	822	P>L		No	ClinGen TOPMed
CA350648549 rs1227788920	823	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1165325760 CA350648525	824	P>S		No	ClinGen gnomAD
CA65957986 rs529749529	825	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2119897 rs529749529	825	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2119896 rs768544801	826	E>*		No	ClinGen ExAC gnomAD
CA350648459 rs768544801	826	E>Q		No	ClinGen ExAC gnomAD
CA65957971 rs975693203	828	S>L		No	ClinGen TOPMed gnomAD
CA2119894 rs775568171	832	L>R		No	ClinGen ExAC gnomAD
rs770934025 CA350648283	833	P>L		No	ClinGen ExAC gnomAD
CA2119893 rs770934025	833	P>R		No	ClinGen ExAC gnomAD
CA2119891 rs199702618	834	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	834	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199702618 CA350648266	834	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	835	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2119890 rs371896436	836	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748437922 CA2119889	838	K>E		No	ClinGen ExAC gnomAD
CA350648017 rs1330552887	840	V>W		No	ClinGen TOPMed

No associated diseases with Q7Z3C6

No regional properties for Q7Z3C6

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q7Z3C6

Functions

		Description
EC Number
Subcellular Localization	Preautophagosomal structure membrane ; Multi-pass membrane protein Cytoplasmic vesicle, autophagosome membrane ; Multi-pass membrane protein Golgi apparatus, trans-Golgi network membrane ; Multi-pass membrane protein Late endosome membrane ; Multi-pass membrane protein Recycling endosome membrane ; Multi-pass membrane protein Endoplasmic reticulum membrane ; Multi-pass membrane protein Mitochondrion membrane ; Multi-pass membrane protein	Mainly localizes to the trans-Golgi network (TGN) and the endosomal system; cycles between them though vesicle trafficking (PubMed:27316455, PubMed:27663665) Export from the TGN to promote formation of autophagosomes is mediated by the AP-4 complex (PubMed:29180427, PubMed:30262884) Under amino acid starvation or rapamycin treatment, redistributes to preautophagosomal structure/phagophore assembly site (PAS) (PubMed:16940348) The starvation-induced redistribution depends on ULK1, ATG13, as well as SH3GLB1 (PubMed:16940348) Upon autophagy induction, a small portion transiently localizes to the autophagic membranes (PubMed:22456507) Recruited to damaged mitochondria during mitophagy in a RIMOC1-dependent manner (PubMed:34432599)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

17 GO annotations of cellular component

Name	Definition
autophagosome	A double-membrane-bounded compartment that engulfs endogenous cellular material as well as invading microorganisms to target them to the lytic vacuole/lysosome for degradation as part of macroautophagy.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
endosome	A vacuole to which materials ingested by endocytosis are delivered.
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.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
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.
late endosome	A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center.
late endosome membrane	The lipid bilayer surrounding a late endosome.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
mitochondrial membrane	Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
phagophore assembly site	Punctate structures proximal to the endoplasmic reticulum which are the sites where the Atg machinery assembles upon autophagy induction.
phagophore assembly site membrane	A cellular membrane associated with the phagophore assembly site.
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.
recycling endosome membrane	The lipid bilayer surrounding a recycling endosome.
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.

1 GO annotations of molecular function

Name	Definition
phospholipid scramblase activity	Catalysis of the movement of phospholipids from one membrane bilayer leaflet to the other, by an ATP-independent mechanism.

6 GO annotations of biological process

Name	Definition
autophagosome assembly	The formation of a double membrane-bounded structure, the autophagosome, that occurs when a specialized membrane sac, called the isolation membrane, starts to enclose a portion of the cytoplasm.
autophagy of mitochondrion	The autophagic process in which mitochondria are delivered to a type of vacuole and degraded in response to changing cellular conditions.
bone morphogenesis	The process in which bones are generated and organized.
late nucleophagy	A type of nucleophagy, distinct from piecemeal microautophagy of the nucleus (PNM) where the nuclear material is delivered to the vacuole/lysosome for breakdown and recycling later than observed for PNM.
positive regulation of necrotic cell death	Any process that increases the rate, frequency or extent of necrotic cell death. Necrotic cell death is a cell death process that is morphologically characterized by a gain in cell volume (oncosis), swelling of organelles, plasma membrane rupture and subsequent loss of intracellular contents.
protein localization to phagophore assembly site	Any process in which a protein is transported to, or maintained at, the phagophore assembly site (PAS).

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3T904	ATG9A	Autophagy-related protein 9A	Bos taurus (Bovine)	PR

10	20	30	40	50	60
MAQFDTEYQR	LEASYSDSPP	GEEDLLVHVA	EGSKSPWHHI	ENLDLFFSRV	YNLHQKNGFT
70	80	90	100	110	120
CMLIGEIFEL	MQFLFVVAFT	TFLVSCVDYD	ILFANKMVNH	SLHPTEPVKV	TLPDAFLPAQ
130	140	150	160	170	180
VCSARIQENG	SLITILVIAG	VFWIHRLIKF	IYNICCYWEI	HSFYLHALRI	PMSALPYCTW
190	200	210	220	230	240
QEVQARIVQT	QKEHQICIHK	RELTELDIYH	RILRFQNYMV	ALVNKSLLPL	RFRLPGLGEA
250	260	270	280	290	300
VFFTRGLKYN	FELILFWGPG	SLFLNEWSLK	AEYKRGGQRL	ELAQRLSNRI	LWIGIANFLL
310	320	330	340	350	360
CPLILIWQIL	YAFFSYAEVL	KREPGALGAR	CWSLYGRCYL	RHFNELEHEL	QSRLNRGYKP
370	380	390	400	410	420
ASKYMNCFLS	PLLTLLAKNG	AFFAGSILAV	LIALTIYDED	VLAVEHVLTT	VTLLGVTVTV
430	440	450	460	470	480
CRSFIPDQHM	VFCPEQLLRV	ILAHIHYMPD	HWQGNAHRSQ	TRDEFAQLFQ	YKAVFILEEL
490	500	510	520	530	540
LSPIVTPLIL	IFCLRPRALE	IIDFFRNFTV	EVVGVGDTCS	FAQMDVRQHG	HPQWLSAGQT
550	560	570	580	590	600
EASVYQQAED	GKTELSLMHF	AITNPGWQPP	RESTAFLGFL	KEQVQRDGAA	ASLAQGGLLP
610	620	630	640	650	660
ENALFTSIQS	LQSESEPLSL	IANVVAGSSC	RGPPLPRDLQ	GSRHRAEVAS	ALRSFSPLQP
670	680	690	700	710	720
GQAPTGRAHS	TMTGSGVDAR	TASSGSSVWE	GQLQSLVLSE	YASTEMSLHA	LYMHQLHKQQ
730	740	750	760	770	780
AQAEPERHVW	HRRESDESGE	SAPDEGGEGA	RAPQSIPRSA	SYPCAAPRPG	APETTALHGG
790	800	810	820	830
FQRRYGGITD	PGTVPRVPSH	FSRLPLGGWA	EDGQSASRHP	EPVPEEGSED	ELPPQVHKV