AiPD: Autoinhibited Protein Database

Q9Y2Q0

Gene name	ATP8A1
Protein name	Phospholipid-transporting ATPase IA
Names	ATPase class I type 8A member 1, Chromaffin granule ATPase II, P4-ATPase flippase complex alpha subunit ATP8A1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10396
EC number	7.6.2.1: Linked to the hydrolysis of a nucleoside triphosphate
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-67 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-67 (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

9 structures for Q9Y2Q0

Entry ID	Method	Resolution	Chain	Position	Source
6K7G	EM	330 A	A	1-1164	PDB
6K7H	EM	322 A	A	1-1164	PDB
6K7I	EM	322 A	A	1-1164	PDB
6K7J	EM	308 A	A	1-1164	PDB
6K7K	EM	304 A	A	1-1164	PDB
6K7L	EM	283 A	A	1-1164	PDB
6K7M	EM	295 A	A	1-1164	PDB
6K7N	EM	284 A	A	1-1164	PDB
AF-Q9Y2Q0-F1	Predicted				AlphaFoldDB

714 variants for Q9Y2Q0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA356762068 rs1346524406	2	P>T		No	ClinGen TOPMed gnomAD
CA2904273 rs771594320	4	M>I		No	ClinGen ExAC gnomAD
rs1236069791 CA356762048	4	M>V		No	ClinGen gnomAD
CA2904272 rs747590503	5	R>G		No	ClinGen ExAC gnomAD
CA356762021 rs1363752199	5	R>Q		No	ClinGen TOPMed
CA356762031 rs747590503	5	R>W		No	ClinGen ExAC gnomAD
TCGA novel	6	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356761999 rs1399327919	7	T>N		No	ClinGen gnomAD
CA95912303 rs947958934	8	V>L		No	ClinGen TOPMed
CA356761960 rs1311610553	10	E>A		No	ClinGen gnomAD
rs1046215312 CA95912301	12	R>L		No	ClinGen TOPMed gnomAD
rs748912126 CA2904269	14	R>C		No	ClinGen ExAC gnomAD
CA2904267 rs755928734	16	E>K		No	ClinGen ExAC gnomAD
rs762499364 CA2904231	21	T>A		No	ClinGen ExAC gnomAD
CA356759753 rs1408190547	22	D>G		No	ClinGen TOPMed gnomAD
rs775319750 CA2904230	22	D>N		No	ClinGen ExAC TOPMed gnomAD
CA356759752 rs1408190547	22	D>V		No	ClinGen TOPMed gnomAD
rs759464653 CA2904228	24	V>D		No	ClinGen ExAC TOPMed gnomAD
rs769563866 CA2904229	24	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	26	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1479862702 CA356759727	26	E>G		No	ClinGen TOPMed
CA356759680 rs1250535482	33	Q>R		No	ClinGen gnomAD
rs1408276957 CA356759674	34	E>A		No	ClinGen TOPMed
CA2904226 rs770697673	34	E>K		No	ClinGen ExAC gnomAD
rs1023130054 CA95906200	39	I>V		No	ClinGen TOPMed gnomAD
rs1202829428 CA356759632	40	F>S		No	ClinGen gnomAD
rs777718313 CA2904224	41	I>F		No	ClinGen ExAC gnomAD
rs1455026403 CA356759626	41	I>N		No	ClinGen gnomAD
rs1274302894 CA356759618	42	N>S		No	ClinGen gnomAD
rs1274302894 CA356759619	42	N>T		No	ClinGen gnomAD
CA356759604 rs1231179826	44	P>S		No	ClinGen gnomAD
CA356759597 rs1560535364	45	Q>R		No	ClinGen Ensembl
CA356759543 rs1235331309	52	N>K		No	ClinGen gnomAD
CA356759538 rs1295113995	53	H>R		No	ClinGen TOPMed gnomAD
CA2904221 rs749336580	53	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	54	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356759502 rs1372352884	56	T>I		No	ClinGen gnomAD
rs773064827 CA2904204	60	N>S		No	ClinGen ExAC gnomAD
rs1381206631 CA356759475	60	N>Y		No	ClinGen TOPMed
rs147391791 CA2904202	61	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2904201 rs775551182	61	I>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	64	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1184759390 CA356759443	65	L>I		No	ClinGen gnomAD
rs866499854 CA95905818	67	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs781449081 CA2904198	67	R>S		No	ClinGen ExAC gnomAD
CA356759422 rs1188826162	68	F>C		No	ClinGen gnomAD
CA356759405 rs1484287956	71	S>T		No	ClinGen gnomAD
CA2904197 rs757599294	72	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs747391880 CA2904196	72	Q>R		No	ClinGen ExAC gnomAD
rs1398719376 CA356759376	75	R>K		No	ClinGen TOPMed
TCGA novel	81	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	82	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356759314 rs1353545932	84	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	87	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356759295 rs1396467319	87	L>Q		No	ClinGen TOPMed gnomAD
rs1392030825 CA356759245	90	I>V		No	ClinGen gnomAD
CA2904164 rs754575889	92	D>G		No	ClinGen ExAC gnomAD
CA2904162 rs766007748	98	R>C		No	ClinGen ExAC TOPMed gnomAD
rs755793968 CA2904161	98	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2904160 rs750002357	99	Y>C		No	ClinGen ExAC gnomAD
rs1233662377 CA356759094	99	Y>H		No	ClinGen TOPMed
rs150108510 CA95905366	100	T>I		No	ClinGen 1000Genomes
CA356759031 rs1472543841	102	L>Q		No	ClinGen TOPMed
TCGA novel	106	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2904157 rs774308531	113	A>V		No	ClinGen ExAC gnomAD
TCGA novel	116	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1462445169 CA356758742	117	I>V		No	ClinGen TOPMed
CA356778426 rs1372912447	123	R>*		No	ClinGen gnomAD
CA2904139 COSM274099 rs372884316 COSM1055526	123	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1173906440 CA356778420	124	H>R		No	ClinGen TOPMed
rs923164445 CA95905686	124	H>Y		No	ClinGen TOPMed
rs751340917 CA2904138	126	A>V		No	ClinGen ExAC gnomAD
rs1361876893 CA356778395	128	N>D		No	ClinGen gnomAD
rs113685514 CA95905674	131	N>S		No	ClinGen Ensembl
COSM254559 CA2904136 COSM1753743 rs373363487	135	T>M	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
TCGA novel	138	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1233238834 CA356776524	141	G>S		No	ClinGen gnomAD
CA356776495 rs1357649471	145	I>V		No	ClinGen gnomAD
rs1230778249 CA356776485	146	V>A		No	ClinGen TOPMed
rs1230778249 CA356776486	146	V>D		No	ClinGen TOPMed
rs1286072432 CA356776469	148	W>*		No	ClinGen gnomAD
CA2904114 rs765054539	149	E>G		No	ClinGen ExAC TOPMed
CA356776458 rs1158617490	150	K>E		No	ClinGen TOPMed
TCGA novel	152	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2904053 rs768609150	153	V>A		No	ClinGen ExAC gnomAD
rs749086357 CA2904052	154	G>R		No	ClinGen ExAC gnomAD
rs1577658785 CA356775460	155	E>G		No	ClinGen Ensembl
rs1460409969 CA356775450	156	I>M		No	ClinGen TOPMed
rs907036744 CA95897276	157	V>L		No	ClinGen TOPMed gnomAD
CA356775432 rs1323044800	159	V>A		No	ClinGen TOPMed gnomAD
rs918085019 CA95897272	161	N>D		No	ClinGen Ensembl
rs780194617 CA2904051	161	N>S		No	ClinGen ExAC TOPMed gnomAD
CA2904050 rs769866442	163	E>Q		No	ClinGen ExAC
CA2904048 rs777744605	164	H>Y		No	ClinGen ExAC gnomAD
CA2904047 rs758452932	165	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2904046 rs752912710	169	L>I		No	ClinGen ExAC TOPMed gnomAD
CA356775162 rs1290679119	170	I>V		No	ClinGen TOPMed
rs1233272459 CA356775116	173	S>Y		No	ClinGen TOPMed
CA95897260 rs887734644	174	S>A		No	ClinGen TOPMed
CA356775105 rs1378333914	174	S>L		No	ClinGen TOPMed gnomAD
CA95896288 rs753995976	176	E>D		No	ClinGen ExAC TOPMed gnomAD
rs780431891 CA2904024	178	Q>H		No	ClinGen ExAC gnomAD
CA95896286 rs368395818	178	Q>R		No	ClinGen ESP TOPMed gnomAD
CA2904023 rs756455196	179	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1366113669 CA356774810	180	M>T		No	ClinGen TOPMed
rs1168001629 CA356774766	182	Y>S		No	ClinGen gnomAD
rs750943385 CA2904022	183	I>L		No	ClinGen ExAC gnomAD
CA356774660 rs1392240458	187	N>K		No	ClinGen gnomAD
CA356774637 rs1214465616	189	D>G		No	ClinGen gnomAD
CA356774640 rs1429075930	189	D>H		No	ClinGen TOPMed
rs768061942 CA2904021	193	N>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	193	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356773751 rs1249517491	200	L>V		No	ClinGen TOPMed gnomAD
rs369714086 CA95895559	201	P>A		No	ClinGen ESP gnomAD
CA2904003 rs143911156	203	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1483102071 CA356773730	203	T>I		No	ClinGen gnomAD
CA2904001 rs756498988	204	S>L		No	ClinGen ExAC gnomAD
CA356773712 rs1343807896	206	I>T		No	ClinGen gnomAD
rs746228205 CA2904000	207	K>R		No	ClinGen ExAC gnomAD
CA356773702 rs1560489480	208	D>N		No	ClinGen Ensembl
rs752071925 CA2903997	209	V>G		No	ClinGen ExAC gnomAD
CA2903998 rs757783790	209	V>I		No	ClinGen ExAC TOPMed gnomAD
CA356773664 rs1410933370	213	M>L		No	ClinGen gnomAD
rs1352430673 CA356773642	214	R>T		No	ClinGen gnomAD
rs377689629 CA2903996	217	G>S		No	ClinGen ESP ExAC gnomAD
CA2903995 rs757956840	224	P>T		No	ClinGen ExAC TOPMed gnomAD
CA356773420 rs1409409759	227	H>L		No	ClinGen TOPMed gnomAD
CA356773423 rs1409409759	227	H>P		No	ClinGen TOPMed gnomAD
rs1158379676 CA356773416	227	H>Q		No	ClinGen gnomAD
rs972485894 CA95895546	227	H>Y		No	ClinGen TOPMed gnomAD
rs1577648830 CA356773407	228	L>V		No	ClinGen Ensembl
CA356773389 rs1441054857	229	Y>C		No	ClinGen TOPMed
CA95895543 rs374505324	230	D>E		No	ClinGen ESP TOPMed
rs1375156994 CA356773371	230	D>Y		No	ClinGen TOPMed
CA2903992 rs759308442	232	V>L		No	ClinGen ExAC gnomAD
rs909681719 CA95895542	235	I>L		No	ClinGen TOPMed
rs1441543384 CA356773254	236	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA356773228 rs1256435467	238	D>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs199606355 CA2903991	239	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2903990 rs766022679	240	H>R		No	ClinGen ExAC gnomAD
CA356772107 rs1404645973	242	T>A		No	ClinGen gnomAD
rs551697810 CA2903965	243	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1164902594 CA356772064	245	L>V		No	ClinGen TOPMed gnomAD
rs759826300 CA2903964	246	G>A		No	ClinGen ExAC gnomAD
rs1577638603 CA356772058	246	G>R		No	ClinGen Ensembl
TCGA novel	251	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356772011 rs1560484357 COSM1670977 COSM1670978	253	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
COSM1055522 rs1188738511 CA356772010 COSM1055521	253	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA356771991 rs1476598022	256	Q>R		No	ClinGen gnomAD
CA95893756 rs892258952	262	W>*		No	ClinGen TOPMed gnomAD
rs892258952 CA356771945	262	W>C		No	ClinGen TOPMed gnomAD
rs1295212521 CA356771935	264	H>Y		No	ClinGen gnomAD
rs182056228 CA2903959	266	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs138921120 CA95893739	266	I>V		No	ClinGen ESP
rs1186710788 CA356771887	268	V>I		No	ClinGen TOPMed
CA2903958 rs748598849	269	Y>C		No	ClinGen ExAC gnomAD
CA95893733 rs748598849	269	Y>F		No	ClinGen ExAC gnomAD
CA2903956 rs754401459	270	T>A		No	ClinGen ExAC gnomAD
CA356771844 rs1163704293	271	G>R		No	ClinGen TOPMed
CA356771834 rs753580416	272	H>L		No	ClinGen ExAC gnomAD
rs753580416 CA2903955	272	H>R		No	ClinGen ExAC gnomAD
rs1369483216 CA356771794	278	Q>E		No	ClinGen TOPMed
CA2903938 rs779268821	279	N>Y		No	ClinGen ExAC gnomAD
CA356771277 rs1443981394	280	S>L		No	ClinGen gnomAD
rs1303156480 CA356771269	282	S>G		No	ClinGen gnomAD
CA2903936 rs748747364	286	K>N		No	ClinGen ExAC gnomAD
rs779555170 CA2903935	287	L>F		No	ClinGen ExAC gnomAD
rs1412846087 CA356771225	289	N>D		No	ClinGen gnomAD
CA356771222 rs1179020676	289	N>S		No	ClinGen gnomAD
COSM1055517 rs372573029 COSM1055518 CA2903932	292	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1159521 rs374228770 CA2903933 COSM218807	292	R>W	pancreas Variant assessed as Somatic; 4.64e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs749835968 CA2903930	293	I>F		No	ClinGen ExAC gnomAD
CA356771191 rs1336183044	294	T>K		No	ClinGen TOPMed
CA356771185 rs1226536023	295	N>S		No	ClinGen gnomAD
CA356771181 rs1169580922	296	V>L		No	ClinGen TOPMed gnomAD
rs755143367 CA2903928	298	I>S		No	ClinGen ExAC gnomAD
TCGA novel	299	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147637073 CA95892809 COSM108294	301	L>F	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA2903927 rs753877466	304	I>V		No	ClinGen ExAC TOPMed gnomAD
rs761010937 CA2903926	305	L>V		No	ClinGen ExAC gnomAD
TCGA novel	307	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2903923 rs768047138	308	M>I		No	ClinGen ExAC TOPMed gnomAD
rs765400231 CA95892792	309	S>C		No	ClinGen TOPMed
CA356771085 rs1318545040	310	L>F		No	ClinGen TOPMed
rs1318930986 CA356771080	311	V>L		No	ClinGen gnomAD
rs762054943 CA2903922	315	G>S		No	ClinGen ExAC gnomAD
rs1457231452 CA356771038	318	I>L		No	ClinGen TOPMed gnomAD
CA356771037 rs1457231452	318	I>V		No	ClinGen TOPMed gnomAD
rs1390011783 CA356771018	320	N>S		No	ClinGen gnomAD
rs769033596 CA2903921	321	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs769033596 CA2903920	321	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2903919 COSM3428519 COSM177043 rs749733890	321	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2903918 rs774889678	322	R>S		No	ClinGen ExAC TOPMed gnomAD
CA356770992 rs1260625356	325	G>R		No	ClinGen TOPMed
CA2903917 rs769242917	326	K>R		No	ClinGen ExAC gnomAD
CA2903915 rs780789814	327	D>G		No	ClinGen ExAC gnomAD
CA2903916 rs745566684	327	D>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	328	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757110109 CA2903914	328	W>C		No	ClinGen ExAC gnomAD
rs1191524011 CA356770957	330	L>I		No	ClinGen TOPMed
rs746766727 CA2903913	331	N>S		No	ClinGen ExAC gnomAD
CA2903892 rs370547296	336	G>D		No	ClinGen ESP ExAC gnomAD
CA356770305 rs1422410078	337	A>G		No	ClinGen Ensembl
rs750522059 CA2903890	337	A>T		No	ClinGen ExAC gnomAD
rs1577630270 CA356770295	338	S>N		No	ClinGen Ensembl
rs757447863 CA2903888	339	N>H		No	ClinGen ExAC gnomAD
rs1430612610 CA356770258	340	F>C		No	ClinGen TOPMed gnomAD
CA356770260 rs1430612610	340	F>S		No	ClinGen TOPMed gnomAD
CA356770244 rs1373483118	341	G>*		No	ClinGen gnomAD
rs751752473 CA2903887 COSM39862	341	G>E	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA356770204 rs1457923297	343	N>K		No	ClinGen TOPMed
rs942365639 CA95892039	347	F>V		No	ClinGen Ensembl
rs1190197384 CA356770138	348	I>V		No	ClinGen Ensembl
TCGA novel	354	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356770046 rs1490703306	361	V>I		No	ClinGen gnomAD
CA2903883 rs368650385	368	F>L		No	ClinGen ESP ExAC gnomAD
CA356769495 rs1310873193	377	D>E		No	ClinGen gnomAD
rs765859006 CA356769494	378	L>I		No	ClinGen ExAC TOPMed gnomAD
CA2903863 rs765859006	378	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1337122296 CA356769429	380	M>I		No	ClinGen gnomAD
CA95890841 rs1003973718	381	H>Q		No	ClinGen TOPMed gnomAD
rs1470947104 CA356769411	381	H>R		No	ClinGen TOPMed gnomAD
CA2903862 rs370395999	382	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA356769402 rs1577623418	382	Y>H		No	ClinGen Ensembl
CA2903861 rs553922327	384	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2903860 rs767188725	385	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1364992384 CA356769293	387	T>A		No	ClinGen gnomAD
rs554007339 CA95890835	388	A>T		No	ClinGen Ensembl
CA2903859 rs761503527	390	M>V		No	ClinGen ExAC gnomAD
rs774297193 CA2903858	392	R>*		No	ClinGen ExAC TOPMed gnomAD
CA2903856 rs201262908	392	R>P		No	ClinGen ExAC TOPMed gnomAD
CA2903857 rs201262908	392	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs747097405 CA2903853	394	S>T		No	ClinGen ExAC
rs1463774048 CA356769062	399	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1308181030 CA356768801	404	K>E		No	ClinGen gnomAD
CA356768766 rs764017338	406	I>L		No	ClinGen ExAC TOPMed gnomAD
rs764017338 CA2903838	406	I>V		No	ClinGen ExAC TOPMed gnomAD
CA356768750 rs1328128651	407	F>L		No	ClinGen gnomAD
TCGA novel	407	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356768726 rs1321434916	408	S>F		No	ClinGen gnomAD
rs1365607689 CA356768660	412	G>D		No	ClinGen gnomAD
rs772090924 CA2903832	425	T>I		No	ClinGen ExAC gnomAD
rs138169536 CA2903831	426	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA95890267 rs890038163	427	A>V		No	ClinGen TOPMed
CA2903829 rs61755862	429	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749654225 CA2903828	430	A>P		No	ClinGen ExAC gnomAD
rs780228038 CA2903827	430	A>V		No	ClinGen ExAC gnomAD
rs1272116556 COSM255651 CA356768191	432	G>S	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA2903805 rs770028517	433	H>R		No	ClinGen ExAC TOPMed gnomAD
CA356765889 rs1353939546	437	P>A		No	ClinGen TOPMed
CA356765883 rs1408950662	438	E>K		No	ClinGen gnomAD
CA356765872 rs1351397927	439	D>G		No	ClinGen TOPMed gnomAD
TCGA novel	439	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356765874 rs1400217783	439	D>Y		No	ClinGen gnomAD
rs1408757180 CA356765864	440	Y>C		No	ClinGen gnomAD
rs746424240 CA2903804	442	C>W		No	ClinGen ExAC gnomAD
rs1471919884 CA356765843	443	S>C		No	ClinGen gnomAD
rs1241102323 CA356765829	445	D>E		No	ClinGen gnomAD
CA356765815 rs1434942791	447	W>S		No	ClinGen Ensembl
CA356766267 rs1382212580	449	N>S		No	ClinGen gnomAD
rs1291076014 CA356766217	452	F>S		No	ClinGen gnomAD
CA2903778 rs754862468	454	D>E		No	ClinGen ExAC gnomAD
CA2903779 rs778426505	454	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1386910850 CA356766191	456	K>Q		No	ClinGen gnomAD
rs1422083797 CA356766182	457	T>A		No	ClinGen gnomAD
CA2903774 rs766099286	458	F>L		No	ClinGen ExAC TOPMed gnomAD
CA2903775 rs766099286	458	F>V		No	ClinGen ExAC TOPMed gnomAD
rs1427637520 CA356766169	459	S>N		No	ClinGen gnomAD
rs1553903679 CA356766138	463	L>F		No	ClinGen Ensembl
CA356766134 rs1489656409	464	L>P		No	ClinGen gnomAD
TCGA novel	465	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201279692 CA2903770	465	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1248729184 CA356766125	466	N>D		No	ClinGen TOPMed gnomAD
rs1248729184 CA356766124	466	N>H		No	ClinGen TOPMed gnomAD
rs1250043941 CA356766107	468	Q>P		No	ClinGen gnomAD
rs765389477 CA2903768	469	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1488025627 CA356766081	471	H>Q		No	ClinGen gnomAD
rs1209064180 CA356765783	474	A>V		No	ClinGen TOPMed
CA356765781 rs1225445391	475	P>A		No	ClinGen gnomAD
CA2903751 rs143787103	476	I>M		No	ClinGen ESP ExAC gnomAD
CA356765725 rs1392148813	478	C>F		No	ClinGen gnomAD
CA356765734 rs1306603922	478	C>R		No	ClinGen TOPMed gnomAD
rs1392148813 CA356765730	478	C>Y		No	ClinGen gnomAD
CA356765678 rs1333105965	480	F>L		No	ClinGen gnomAD
rs765318678 CA356765574	482	T>I		No	ClinGen ExAC gnomAD
rs765318678 CA2903749	482	T>K		No	ClinGen ExAC gnomAD
CA356765571 rs1405267703	483	M>V		No	ClinGen gnomAD
rs776970819 CA2903747	484	M>I		No	ClinGen ExAC TOPMed gnomAD
rs141373133 CA2903748 COSM1618846 COSM1618845	484	M>L	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs761117202 CA2903745	486	V>F		No	ClinGen ExAC gnomAD
CA2903746 rs761117202	486	V>I		No	ClinGen ExAC gnomAD
CA356765454 rs1253173180	490	A>T		No	ClinGen gnomAD
rs748628033 CA95902761	494	R>*		No	ClinGen ExAC TOPMed gnomAD
CA95902757 rs373156864	494	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1390324721 CA356765332	498	K>E		No	ClinGen TOPMed
rs376344210 CA2903741	498	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777443512 CA2903740	499	I>F		No	ClinGen ExAC TOPMed gnomAD
CA2903739 rs748975781	503	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA356765270 rs1357937815	506	P>S		No	ClinGen gnomAD
rs1361854427 CA356765140	510	A>T		No	ClinGen gnomAD
rs774917399 CA356765118	513	R>K		No	ClinGen ExAC TOPMed gnomAD
rs774917399 CA2903716	513	R>T		No	ClinGen ExAC TOPMed gnomAD
rs769453426 CA2903715	515	A>P		No	ClinGen ExAC gnomAD
rs1195945199 CA356765100	516	K>R		No	ClinGen gnomAD
CA2903713 rs146629097	517	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1474594415 CA356765088	517	Q>R		No	ClinGen gnomAD
CA2903711 rs746969175	518	L>M		No	ClinGen ExAC TOPMed gnomAD
CA2903710 rs777753253	519	N>D		No	ClinGen ExAC gnomAD
rs537110147 CA2903709	520	F>V		No	ClinGen 1000Genomes ExAC gnomAD
CA95902421 rs867606765	527	P>L		No	ClinGen Ensembl
COSM1055511 rs372291630 CA2903707 COSM167219	528	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA2903706 rs756424318	529	S>L		No	ClinGen ExAC TOPMed gnomAD
rs752183723 CA95902415	529	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1305315992 CA356764814	533	D>H		No	ClinGen Ensembl
CA2903690 rs780309877	535	L>V		No	ClinGen ExAC gnomAD
CA2903686 rs148589369	538	E>A		No	ClinGen ESP ExAC gnomAD
rs1414720650 CA356764438	540	R>I		No	ClinGen TOPMed
CA95901735 rs1004650159	545	N>D		No	ClinGen TOPMed gnomAD
CA2903685 rs34999127	545	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764396756 CA2903684	546	V>I		No	ClinGen ExAC gnomAD
CA2903683 rs758938584	547	L>M		No	ClinGen ExAC gnomAD
rs1470363633 CA356764385	548	E>G		No	ClinGen gnomAD
CA2903682 rs139072426	551	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA356763704 rs114187459	552	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs114187459 CA2903667	552	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356763695 rs1457031497	553	R>K		No	ClinGen TOPMed gnomAD
rs966678854 CA95899904	554	K>R		No	ClinGen TOPMed
rs778152069 CA2903665	556	M>T		No	ClinGen ExAC gnomAD
rs1357805168 CA356763643 COSM1694299 COSM1694300	561	R>C	Variant assessed as Somatic; 0.0 impact. urinary_tract skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs556457468 COSM170851 CA2903664	561	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA95899894 rs556457468	561	R>L		No	ClinGen ExAC TOPMed gnomAD
CA356763645 rs1357805168	561	R>S		No	ClinGen gnomAD
rs959080537 CA95899889	562	T>S		No	ClinGen Ensembl
CA2903662 rs765729012	563	P>A		No	ClinGen ExAC gnomAD
rs201550968 CA2903660	566	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1422947869 CA356763604	568	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1422947869 CA356763605	568	R>G		No	ClinGen TOPMed gnomAD
rs147389955 COSM299072 CA2903658 COSM299073	568	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA356763599 rs1162686693	569	L>F		No	ClinGen gnomAD
rs772966106 CA2903657	570	Y>C		No	ClinGen ExAC gnomAD
CA95899875 rs111803728	572	K>E		No	ClinGen Ensembl
rs1415890327 CA356763516	574	A>G		No	ClinGen gnomAD
rs1489696054 CA356760971	575	D>V		No	ClinGen gnomAD
CA95892502 rs937405971	576	T>S		No	ClinGen TOPMed gnomAD
CA2903640 rs755530942	577	V>I		No	ClinGen ExAC gnomAD
rs1319203008 CA356760940	578	I>V		No	ClinGen gnomAD
rs754256637 CA2903639	579	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs530492116 CA2903638	580	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755553887 CA2903637	581	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs368857238 CA2903636	581	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1184149 COSM1184150 CA2903635 rs368857238	581	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1350793124 CA356760881	582	L>P		No	ClinGen TOPMed
CA2903634 rs761503447	585	T>M		No	ClinGen ExAC TOPMed gnomAD
CA95892489 rs967533511	587	K>E		No	ClinGen TOPMed
rs1296238901 CA356760753	591	I>S		No	ClinGen gnomAD
rs981593856 CA95892486	594	K>Q		No	ClinGen TOPMed gnomAD
rs763759517 CA2903632	597	E>Q		No	ClinGen ExAC
rs762990643 CA2903631	601	T>A		No	ClinGen ExAC gnomAD
CA2903619 rs755748061	607	L>*		No	ClinGen ExAC gnomAD
CA2903618 rs749953910	609	F>L		No	ClinGen ExAC gnomAD
rs969960978 CA95891394	611	V>L		No	ClinGen Ensembl
CA356760342 rs1461262895	616	E>D		No	ClinGen gnomAD
CA2903617 rs780804324	617	S>C		No	ClinGen ExAC gnomAD
CA2903616 rs757004781	617	S>T		No	ClinGen ExAC gnomAD
rs1578099931 CA356760335	618	D>N		No	ClinGen Ensembl
CA356760318 rs1022846322	620	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1022846322 CA95891382	620	Q>E		No	ClinGen gnomAD
rs1241113212 CA356760294	623	R>*		No	ClinGen TOPMed gnomAD
COSM1633689 rs1330464217 COSM1633688 CA356760292	623	R>Q	liver Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA356760287 rs764002108	624	A>E		No	ClinGen ExAC gnomAD
CA2903614 rs764002108	624	A>V		No	ClinGen ExAC gnomAD
rs151214952 CA2903612	626	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765091187 CA356760263	628	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2903610 rs759412754	628	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1297240304 CA356760243	631	T>I		No	ClinGen gnomAD
CA2903608 rs201892304	632	S>P		No	ClinGen 1000Genomes ExAC
CA2903606 rs774412533	633	V>A		No	ClinGen ExAC TOPMed gnomAD
rs762060103 CA2903607	633	V>M		No	ClinGen ExAC gnomAD
rs769119067 CA2903605	634	Q>H		No	ClinGen ExAC gnomAD
rs1026723682 CA95891359	634	Q>R		No	ClinGen Ensembl
CA356760220 rs956862653	635	N>K		No	ClinGen TOPMed gnomAD
CA2903604 rs749609027	636	R>S		No	ClinGen ExAC gnomAD
rs1578099694 CA356760194	640	L>I		No	ClinGen Ensembl
CA356760186 COSM1055505 rs1217699790 COSM1055506	641	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA356760165 rs1578099643	643	S>R		No	ClinGen Ensembl
CA356760147 rs1355314248	646	L>V		No	ClinGen gnomAD
CA356760139 rs1246860495	647	I>F		No	ClinGen gnomAD
CA356760141 rs1246860495	647	I>L		No	ClinGen gnomAD
rs746735074 CA2903598	648	E>K		No	ClinGen ExAC gnomAD
rs199644717 CA2903597	649	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA356759227 rs1171942397	652	Q>H		No	ClinGen gnomAD
rs1172262363 CA356759183	655	G>E		No	ClinGen gnomAD
CA2903576 rs368090353	656	A>G		No	ClinGen ESP ExAC gnomAD
rs778720044 CA2903577	656	A>T		No	ClinGen ExAC gnomAD
CA95880810 rs761428354	659	I>T		No	ClinGen TOPMed gnomAD
rs1199162106 CA356758971	665	D>E		No	ClinGen gnomAD
rs143631171 CA2903573	665	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA95880798 rs751599908	666	Q>P		No	ClinGen ExAC
rs751599908 CA2903572	666	Q>R		No	ClinGen ExAC
CA356758928 rs1275885406	667	V>E		No	ClinGen gnomAD
rs1319451357 CA356758943	667	V>M		No	ClinGen gnomAD
TCGA novel	669	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1345290995 CA356758851	671	I>T		No	ClinGen gnomAD
rs1578070541 CA356758820	672	E>G		No	ClinGen Ensembl
rs3792687 VAR_022003 CA2903571	673	T>M		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA356758795 rs1332672729	674	L>V		No	ClinGen gnomAD
rs563285062 CA356758773	675	M>K		No	ClinGen ExAC TOPMed gnomAD
CA2903568 rs563285062	675	M>R		No	ClinGen ExAC TOPMed gnomAD
CA356758771 rs563285062	675	M>T		No	ClinGen ExAC TOPMed gnomAD
rs759976081 CA2903567	677	A>T		No	ClinGen ExAC gnomAD
rs920038321 CA95880779	680	K>R		No	ClinGen TOPMed
rs1415055978 CA356758625	682	W>C		No	ClinGen gnomAD
rs1261629677 CA356758581	685	T>I		No	ClinGen gnomAD
CA2903565 rs771579188	686	G>R		No	ClinGen ExAC gnomAD
CA95880765 rs199797696	687	D>E		No	ClinGen gnomAD
rs1216466198 CA356758561	687	D>G		No	ClinGen TOPMed gnomAD
TCGA novel	687	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761195916 CA2903564	689	Q>R		No	ClinGen ExAC gnomAD
rs772627948	695	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1288524729 CA356758448	695	I>S		No	ClinGen gnomAD
CA356758454 rs1459032502	695	I>V		No	ClinGen TOPMed gnomAD
COSM2152776 COSM2152775 rs202148347 CA2903541	697	H>Q	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA356758411 rs1381510091	699	C>G		No	ClinGen gnomAD
rs907086262 CA95878241	700	K>R		No	ClinGen TOPMed
CA356758382 rs1445376358	703	K>R		No	ClinGen TOPMed
CA2903539 rs779852825	704	K>N		No	ClinGen ExAC gnomAD
rs1276382695 CA356758374	704	K>R		No	ClinGen gnomAD
CA95878230 rs1036369116	705	N>I		No	ClinGen TOPMed gnomAD
CA356758365 rs1560397700	705	N>K		No	ClinGen Ensembl
CA95878226 rs916193797	707	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA356758355 rs1300216792	707	G>R		No	ClinGen gnomAD
CA2903538 rs769611670	708	M>L		No	ClinGen ExAC gnomAD
rs745855609 CA2903537	711	I>T		No	ClinGen ExAC TOPMed gnomAD
CA2903536 rs556475227	712	N>H		No	ClinGen 1000Genomes ExAC gnomAD
CA356758304 rs1405867606	714	G>A		No	ClinGen gnomAD
rs1405867606 CA356758305	714	G>D		No	ClinGen gnomAD
TCGA novel	714	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA95898563 rs902437426	718	G>E		No	ClinGen Ensembl
CA2903525 rs762246314	718	G>R		No	ClinGen ExAC gnomAD
CA2903523 rs773871555	725	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs145068951 COSM3720926 CA2903521 COSM3720925	725	R>H	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2903522 rs145068951	725	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA356758215 rs1423697094	726	H>Q		No	ClinGen TOPMed gnomAD
CA356758218 rs1464684851	726	H>R		No	ClinGen TOPMed gnomAD
rs775197702 CA2903520	727	C>R		No	ClinGen ExAC gnomAD
CA2903519 rs769547505	727	C>S		No	ClinGen ExAC gnomAD
CA356758214 rs775197702	727	C>S		No	ClinGen ExAC gnomAD
rs745684249 CA2903518	728	T>A		No	ClinGen ExAC TOPMed gnomAD
rs141340925 CA2903517	729	T>A		No	ClinGen ExAC TOPMed gnomAD
CA356758189 rs1489645188	731	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA356758183 rs1236914733	732	D>G		No	ClinGen TOPMed gnomAD
CA95898541 rs949278437	734	L>F		No	ClinGen Ensembl
rs574809709 CA2903515	734	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2903513 rs146595907	735	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1184145 CA2903514 rs370223580 COSM1184146	735	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA356758165 rs368840018	736	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs368840018 CA2903512	736	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2903511 rs780318887	736	K>R		No	ClinGen ExAC gnomAD
rs1329287321 CA356758153	737	E>D		No	ClinGen TOPMed gnomAD
CA356758159 rs1560378179	737	E>K		No	ClinGen Ensembl
CA95898526 rs547526738	737	E>V		No	ClinGen gnomAD
CA356758144 rs1211348375	739	D>H		No	ClinGen TOPMed
CA356758128 rs1285028831	741	A>T		No	ClinGen TOPMed
CA356758124 rs1445940211	741	A>V		No	ClinGen gnomAD
rs1478425775 CA356758112	743	I>T		No	ClinGen TOPMed gnomAD
rs1176289518 CA356758075	748	T>I		No	ClinGen gnomAD
rs1560378060 CA356758049	752	A>D		No	ClinGen Ensembl
CA356758038 rs1188905779	754	T>A		No	ClinGen TOPMed
CA2903507 rs750809374	754	T>I		No	ClinGen ExAC gnomAD
CA356758025 rs1178625493	756	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2903505 rs757790458	757	V>A		No	ClinGen ExAC gnomAD
rs150461575 CA2903506	757	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1198813685 CA356758015	758	R>*		No	ClinGen gnomAD
CA2903504 rs752026708	758	R>P		No	ClinGen ExAC TOPMed gnomAD
CA356758014 rs752026708	758	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA356757964 rs1349860385	765	A>D		No	ClinGen gnomAD
rs762450673 CA356757945	768	C>F		No	ClinGen ExAC TOPMed gnomAD
rs762450673 CA2903502	768	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1578029058 CA356757937	769	K>R		No	ClinGen Ensembl
rs1309002478 CA356757933	770	A>P		No	ClinGen gnomAD
rs920001708 CA95898486	771	V>F		No	ClinGen Ensembl
TCGA novel	771	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356757928 rs920001708	771	V>I		No	ClinGen Ensembl
CA2903501 rs774799725	772	I>V		No	ClinGen ExAC TOPMed gnomAD
rs374740812 CA2903499	775	R>Q		No	ClinGen ESP ExAC gnomAD
CA95898473 rs867059514	775	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs746034954 CA2903489	785	V>I		No	ClinGen ExAC gnomAD
rs868211066 CA95887379	786	E>K		No	ClinGen Ensembl
TCGA novel	786	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1420726054 CA356757781	791	Q>K		No	ClinGen gnomAD
rs1387555335 CA356757770	792	V>A		No	ClinGen gnomAD
rs757608421 CA2903487	793	K>Q		No	ClinGen ExAC gnomAD
CA2903486 rs752128867	793	K>R		No	ClinGen ExAC TOPMed gnomAD
CA2903485 rs778262095	794	V>I		No	ClinGen ExAC gnomAD
rs375992978 COSM1429757 CA2903482 COSM1429756	795	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA95887323 rs1000575278	796	T>M		No	ClinGen TOPMed gnomAD
CA356757734 rs1426712920	799	I>V		No	ClinGen TOPMed
rs753411468 CA356757727	800	G>C		No	ClinGen ExAC TOPMed gnomAD
rs753411468 CA2903479	800	G>S		No	ClinGen ExAC TOPMed gnomAD
CA356757718 rs1560354254	801	D>V		No	ClinGen Ensembl
CA356757715 rs1208058663	802	G>R		No	ClinGen gnomAD
rs1316824039 CA356757687	806	V>I		No	ClinGen TOPMed
rs766333923 CA2903478	807	S>G		No	ClinGen ExAC gnomAD
CA95887306 rs770233505	812	A>V		No	ClinGen Ensembl
rs1044887319 CA95887292	814	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs560081854 CA95887305	814	V>I		No	ClinGen gnomAD
TCGA novel	818	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761603135 CA2903474	821	N>D		No	ClinGen ExAC gnomAD
rs761603135 CA356757588	821	N>H		No	ClinGen ExAC gnomAD
rs1321597186 CA356757553	826	A>T		No	ClinGen TOPMed
rs1235702284 CA356757547	827	A>T		No	ClinGen TOPMed
COSM1694297 COSM1694298 CA95887245 rs267600160	829	S>F	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs917862727 CA95887236	830	S>P		No	ClinGen TOPMed
TCGA novel	832	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356757515 rs771077158	832	Y>D		No	ClinGen ExAC gnomAD
CA2903467 rs771077158	832	Y>H		No	ClinGen ExAC gnomAD
rs1560354014 CA356757502	834	I>V		No	ClinGen Ensembl
CA2903466 rs747391160	835	A>T		No	ClinGen ExAC
rs771168859 CA2903449	838	K>N		No	ClinGen ExAC gnomAD
CA2903450 rs201823579	838	K>R		No	ClinGen ExAC TOPMed gnomAD
CA2903448 rs558818966	842	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356757393 rs1577984825	847	H>Q		No	ClinGen Ensembl
TCGA novel	847	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2903445 rs376699635	849	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA356757351 rs1276118505	853	N>S		No	ClinGen gnomAD
TCGA novel	854	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356757344 rs1346229394	854	R>T		No	ClinGen gnomAD
rs779281307 CA2903443	858	C>S		No	ClinGen ExAC gnomAD
rs755444266 CA2903442	859	I>V		No	ClinGen ExAC gnomAD
rs748819525 CA2903441	860	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1354246756 CA356757250	867	I>T		No	ClinGen TOPMed
rs779661422 CA2903440	867	I>V		No	ClinGen ExAC gnomAD
CA356757216 rs1357469732	872	I>T		No	ClinGen gnomAD
rs1188681491 CA356756632	878	F>L		No	ClinGen gnomAD
CA356756621 rs1279809748	880	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA2903412 rs745572336	884	G>R		No	ClinGen ExAC gnomAD
CA356756592 rs1246677550	885	Q>E		No	ClinGen gnomAD
TCGA novel	891	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2903411 rs115298940	892	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756879508 CA2903410	893	I>V		No	ClinGen ExAC gnomAD
rs751337554 CA2903409	894	G>S		No	ClinGen ExAC gnomAD
TCGA novel	895	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs151327910 CA356756499	898	V>L		No	ClinGen ESP TOPMed gnomAD
rs151327910 CA95878321	898	V>M		No	ClinGen ESP TOPMed gnomAD
CA356756481 rs1190958795	899	M>V		No	ClinGen TOPMed
TCGA novel	901	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	903	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2903379 rs775941358	906	L>F		No	ClinGen ExAC gnomAD
CA2903378 rs770449166	908	L>P		No	ClinGen ExAC gnomAD
CA356756415 rs1308519985	909	G>R		No	ClinGen gnomAD
CA356756410 rs1265739329	909	G>V		No	ClinGen TOPMed
CA356756408 rs1393728859	910	I>V		No	ClinGen gnomAD
CA356756384 rs1354456582	913	R>K		No	ClinGen gnomAD
CA356756373 rs1455712983	915	C>R		No	ClinGen TOPMed
rs776049107 CA2903375	923	Y>C		No	ClinGen ExAC gnomAD
CA356756278 rs1194505939	925	E>K		No	ClinGen TOPMed
CA356756249 rs1161457295	928	K>N		No	ClinGen TOPMed
CA356756255 rs1365990411	928	K>Q		No	ClinGen gnomAD
rs74414963 CA2903374	928	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1474898118 CA356756237	930	S>F		No	ClinGen TOPMed gnomAD
rs1474898118 CA356756239	930	S>Y		No	ClinGen TOPMed gnomAD
rs746699239 CA2903373	931	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs771647511 CA2903372	933	A>G		No	ClinGen ExAC gnomAD
rs950046694 CA95878164	933	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs771647511 CA2903371	933	A>V		No	ClinGen ExAC gnomAD
rs372216957 CA2903370	934	L>P		No	ClinGen ESP ExAC TOPMed
rs1560342811 CA356756185	938	T>I		No	ClinGen Ensembl
rs199975147 CA356756184	939	K>E		No	ClinGen 1000Genomes gnomAD
rs199975147 CA95878111	939	K>Q		No	ClinGen 1000Genomes gnomAD
TCGA novel	941	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2903359 rs753146965	944	H>R		No	ClinGen ExAC gnomAD
CA2903358 rs765670060	945	C>W		No	ClinGen ExAC gnomAD
rs1013995427 CA95875931	946	L>S		No	ClinGen TOPMed
CA2903357 rs760015294	947	N>H		No	ClinGen ExAC gnomAD
rs1251078097 CA356755974	948	G>A		No	ClinGen TOPMed
rs190084279 CA95875919	951	H>R		No	ClinGen 1000Genomes gnomAD
rs1207967961 CA356755942	951	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	952	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	955	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	956	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1422917319 CA356755720	962	A>P		No	ClinGen TOPMed
CA95875911 rs889028794	962	A>V		No	ClinGen Ensembl
rs771733177 CA2903352	966	G>S		No	ClinGen ExAC gnomAD
rs1018178667 CA95871800	967	T>N		No	ClinGen Ensembl
CA356754019 rs1433815110	969	F>L		No	ClinGen gnomAD
CA356753991 rs1195400249	970	G>V		No	ClinGen gnomAD
rs1231809129 CA356753934	974	T>N		No	ClinGen gnomAD
rs775087828 CA2903329	975	S>L		No	ClinGen ExAC TOPMed gnomAD
CA356753912 rs1254895223	976	D>H		No	ClinGen gnomAD
rs868810722 CA95871752	981	G>E		No	ClinGen Ensembl
CA356753844 rs1210650408	981	G>R		No	ClinGen gnomAD
rs1487529479 CA356753823	982	N>S		No	ClinGen Ensembl
TCGA novel	982	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356753778 rs1345545799	985	Y>C		No	ClinGen gnomAD
rs778049118 CA2903326	986	T>A		No	ClinGen ExAC TOPMed gnomAD
rs758539532 CA2903325	986	T>N		No	ClinGen ExAC gnomAD
rs778049118 CA356753773	986	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1227158373 CA356753479	989	V>A		No	ClinGen TOPMed
rs1216206169 CA356753485	989	V>M		No	ClinGen gnomAD
COSM3661109 rs200581251 CA356753418 COSM3661110 CA95870539	994	L>F	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
CA2903300 rs781666426	995	K>N		No	ClinGen ExAC gnomAD
TCGA novel	997	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA95870529 rs865784125	1001	S>L		No	ClinGen Ensembl
CA356753234 rs1277383709	1005	W>*		No	ClinGen TOPMed
rs1055141971 CA95869728 COSM159289	1010	A>V	Variant assessed as Somatic; 0.0 impact. NS large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1445514736 CA356753083	1011	I>M		No	ClinGen TOPMed
TCGA novel	1012	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2903269 rs764297544	1012	W>C		No	ClinGen ExAC gnomAD
CA356753033 rs762946178	1015	I>M		No	ClinGen ExAC gnomAD
COSM1184143 CA2903267 rs754952867 COSM1184144	1016	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1433203002 CA356752996	1018	W>C		No	ClinGen gnomAD
CA356752994 rs1395050935	1019	V>M		No	ClinGen gnomAD
rs1433985778 CA356752978	1020	V>A		No	ClinGen TOPMed
rs1294677892 CA356752970	1021	F>V		No	ClinGen TOPMed
TCGA novel	1022	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1022	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2903266 rs770024010	1024	I>V		No	ClinGen ExAC TOPMed gnomAD
CA356752936 rs1216781968	1025	Y>C		No	ClinGen TOPMed
CA2903265 rs746048297	1026	S>P		No	ClinGen ExAC gnomAD
rs777031347 CA2903264	1027	S>F		No	ClinGen ExAC gnomAD
rs1577941785 CA356752910	1029	W>C		No	ClinGen Ensembl
rs1285518147 CA356752917	1029	W>R		No	ClinGen Ensembl
CA356752908 rs1234772922	1030	P>S		No	ClinGen gnomAD
CA2903263 rs771273391	1031	A>D		No	ClinGen ExAC gnomAD
rs1333927143 CA356752896	1032	I>V		No	ClinGen gnomAD
rs140420171 COSM1184147 COSM1184148 CA2903262	1033	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs868693295 CA95869688	1033	P>S		No	ClinGen Ensembl
rs572199208 CA2903259	1034	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA356752886 rs1234916577	1034	M>L		No	ClinGen gnomAD
CA2903260 rs758886673	1034	M>T		No	ClinGen ExAC gnomAD
CA356752863 rs1309433410	1037	D>G		No	ClinGen gnomAD
rs199599944 CA2903257	1037	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs199599944 CA356752866	1037	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA356752855 rs1375205116	1038	M>I		No	ClinGen TOPMed gnomAD
rs374633134 CA2903256	1038	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA356752846 rs1461897954	1040	G>R		No	ClinGen TOPMed
TCGA novel	1040	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766331746 CA2903255	1041	E>D		No	ClinGen ExAC gnomAD
CA356757089 rs1461482569	1042	A>T		No	ClinGen gnomAD
rs749011547 CA2903238	1044	M>I		No	ClinGen ExAC gnomAD
CA2903239 rs754520471	1044	M>V		No	ClinGen ExAC TOPMed gnomAD
rs779853519 CA2903237	1046	F>S		No	ClinGen ExAC gnomAD
rs1425303424 CA356757053	1047	S>N		No	ClinGen gnomAD
rs1166268429 CA356757005	1053	M>I		No	ClinGen TOPMed
TCGA novel	1054	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356757004 rs1211216952	1054	G>S		No	ClinGen gnomAD
rs1316689782 CA356756994	1055	L>F		No	ClinGen gnomAD
rs767301299 CA2903234	1055	L>W		No	ClinGen ExAC TOPMed gnomAD
rs757180900 CA2903233	1056	L>F		No	ClinGen ExAC gnomAD
CA2903232 rs751502747	1057	F>L		No	ClinGen ExAC gnomAD
rs765368933 CA2903231	1059	P>T		No	ClinGen ExAC gnomAD
rs200291526 CA356756961	1061	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2903230 rs200291526	1061	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs753857860 CA2903229	1061	A>V		No	ClinGen ExAC gnomAD
TCGA novel	1062	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1397687838 CA356756948	1063	L>Q		No	ClinGen TOPMed
CA356756932 rs1311293090	1066	D>H		No	ClinGen TOPMed
TCGA novel	1066	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1459298855 CA356756923	1067	V>E		No	ClinGen gnomAD
CA2903228 rs766613625	1067	V>M		No	ClinGen ExAC gnomAD
CA2903226 rs773492388	1068	V>M		No	ClinGen ExAC gnomAD
CA2903223 rs774990376	1069	Y>C		No	ClinGen ExAC gnomAD
CA2903222 rs769215914	1070	K>R		No	ClinGen ExAC TOPMed gnomAD
CA2903221 rs748819585	1071	V>I		No	ClinGen ExAC gnomAD
rs147185371 CA95884353	1072	I>T		No	ClinGen ESP TOPMed gnomAD
rs745575593 CA2903198	1072	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2903196 rs770433571	1080	L>W		No	ClinGen ExAC gnomAD
CA356756818 rs1468128450	1082	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA95884327 rs561560464	1083	E>K		No	ClinGen Ensembl
rs758376440 CA2903193	1084	V>I		No	ClinGen ExAC gnomAD
CA2903192 rs752611140	1085	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1182434394 CA356756794	1085	Q>R		No	ClinGen gnomAD
CA2903191 rs780058864	1087	L>M		No	ClinGen ExAC gnomAD
CA2903189 rs750400512	1090	K>T		No	ClinGen ExAC gnomAD
TCGA novel	1091	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356756751 rs1281301304	1092	Q>E		No	ClinGen gnomAD
rs767789884 CA2903188	1092	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA95884250 rs1032489541	1096	A>G		No	ClinGen TOPMed
CA356756719 rs1577900877	1097	V>L		No	ClinGen Ensembl
TCGA novel	1102	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1391889133 CA356756006	1105	E>K		No	ClinGen gnomAD
CA2903170 rs757592959	1107	A>T		No	ClinGen ExAC gnomAD
CA356755868 rs373678420	1113	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs373678420 CA2903163	1113	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs765857627 CA2903162	1116	K>N		No	ClinGen ExAC TOPMed gnomAD
CA2903161 rs760381619	1118	H>Y		No	ClinGen ExAC
CA2903159 rs369168664	1119	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA356755732 rs1291779246	1120	N>K		No	ClinGen TOPMed gnomAD
CA356755728 rs1212537397	1121	L>M		No	ClinGen gnomAD
rs778412248 CA2903158	1123	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2903157 rs569311998	1123	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1560298632 CA356755674	1124	S>F		No	ClinGen Ensembl
CA356755681 rs1231142462	1124	S>P		No	ClinGen TOPMed
CA2903156 rs768669151	1125	E>G		No	ClinGen ExAC gnomAD
CA356755589 rs1374347595	1130	N>Y		No	ClinGen gnomAD
rs376142691 CA95878188	1131	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs376142691 CA2903154	1131	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1410482102 CA356755500	1133	H>L		No	ClinGen TOPMed
rs747020538 CA2903152 COSM1694292 COSM1694291	1133	H>Y	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs779394605 CA2903130	1145	V>I		No	ClinGen ExAC gnomAD
CA95877085 rs111511494	1147	Q>*		No	ClinGen Ensembl
CA95877084 rs866754505	1149	E>K		No	ClinGen Ensembl
rs1487247759 CA356755380	1151	I>V		No	ClinGen TOPMed gnomAD
CA356755353 rs975581993	1155	D>H		No	ClinGen TOPMed gnomAD
CA95877052 rs975581993	1155	D>N		No	ClinGen TOPMed gnomAD
rs754168075 CA2903128	1156	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2903127 rs780548514 COSM1055486 COSM1055485	1157	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA356755326 rs1350660588	1159	Q>*		No	ClinGen gnomAD
CA356755310 rs1253502718	1161	P>H		No	ClinGen TOPMed
rs111660456 CA356755307	1162	D>H		No	ClinGen TOPMed
CA95877020 rs111660456	1162	D>N		No	ClinGen TOPMed
rs751157914 CA2903122	1163	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1158435348 CA356755280	1164	W>C		No	ClinGen gnomAD
rs1003865284 CA95877002	1164	W>R		No	ClinGen TOPMed gnomAD

No associated diseases with Q9Y2Q0

4 regional properties for Q9Y2Q0

Type	Name	Position	InterPro Accession
ptm	P-type ATPase, phosphorylation site	409 - 415	IPR018303
domain	P-type ATPase, C-terminal	827 - 1078	IPR032630
domain	P-type ATPase, N-terminal	41 - 102	IPR032631
domain	P-type ATPase, haloacid dehalogenase domain	389 - 850	IPR044492

Functions

		Description
EC Number	7.6.2.1	Linked to the hydrolysis of a nucleoside triphosphate
Subcellular Localization	Cytoplasmic vesicle, secretory vesicle, chromaffin granule membrane ; Multi-pass membrane protein Cytoplasmic granule Cell membrane Endoplasmic reticulum Golgi apparatus	Exit from the endoplasmic reticulum requires the presence of TMEM30A, but not TMEM30B (PubMed:20947505) In the presence of TMEM30A, predominantly located in cytoplasmic punctate structures and localizes to the cell membrane (PubMed:20947505) Localizes to plasma membranes of red blood cells (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

14 GO annotations of cellular component

Name	Definition
azurophil granule membrane	The lipid bilayer surrounding an azurophil granule, a primary lysosomal granule found in neutrophil granulocytes that contains a wide range of hydrolytic enzymes and is released into the extracellular fluid.
chromaffin granule membrane	The lipid bilayer surrounding a chromaffin granule, a specialized secretory vesicle found in the cells of adrenal glands and various other organs, which is concerned with the synthesis, storage, metabolism, and secretion of epinephrine and norepinephrine.
cytoplasmic vesicle	A vesicle found in the cytoplasm of a cell.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
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.
organelle membrane	A membrane that is one of the two lipid bilayers of an organelle envelope or the outermost membrane of single membrane bound organelle.
phospholipid-translocating ATPase complex	A protein complex that functions as a phospholipid-translocating P-Type ATPase.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
specific granule membrane	The lipid bilayer surrounding a specific granule, a granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase.
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.

7 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
ATPase-coupled cation transmembrane transporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + cation(out) = ADP + phosphate + cation(in).
ATPase-coupled intramembrane lipid transporter activity	Catalysis of the movement of lipids from one membrane leaflet to the other, driven by ATP hydrolysis. This includes flippases and floppases.
magnesium ion binding	Binding to a magnesium (Mg) ion.
phosphatidylserine flippase activity	Catalysis of the movement of phosphatidylserine from the exoplasmic to the cytosolic leaftlet of a membrane, using energy from the hydrolysis of ATP.
phosphatidylserine floppase activity	Catalysis of the movement of phosphatidylserine from the cytosolic to the exoplasmic leaftlet of a membrane, using energy from the hydrolysis of ATP.

7 GO annotations of biological process

Name	Definition
aminophospholipid translocation	The movement of an aminophospholipid molecule from one leaflet of a membrane bilayer to the opposite leaflet.
ion transmembrane transport	A process in which an ion is transported across a membrane.
learning	Any process in an organism in which a relatively long-lasting adaptive behavioral change occurs as the result of experience.
phospholipid translocation	The movement of a phospholipid molecule from one leaflet of a membrane bilayer to the opposite leaflet.
positive regulation of cell migration	Any process that activates or increases the frequency, rate or extent of cell migration.
positive regulation of phospholipid translocation	Any process that increases the frequency, rate or extent of the translocation, or flipping, of phospholipid molecules from one monolayer of a membrane bilayer to the opposite monolayer.
transport across blood-brain barrier	The directed movement of substances (e.g. macromolecules, small molecules, ions) through the blood-brain barrier.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P39524	DRS2	Phospholipid-transporting ATPase DRS2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	EV
O43520	ATP8B1	Phospholipid-transporting ATPase IC	Homo sapiens (Human)	EV
P98198	ATP8B2	Phospholipid-transporting ATPase ID	Homo sapiens (Human)	PR
Q8TF62	ATP8B4	Probable phospholipid-transporting ATPase IM	Homo sapiens (Human)	PR
O43861	ATP9B	Probable phospholipid-transporting ATPase IIB	Homo sapiens (Human)	PR
Q9P241	ATP10D	Phospholipid-transporting ATPase VD	Homo sapiens (Human)	PR
Q148W0	Atp8b1	Phospholipid-transporting ATPase IC	Mus musculus (Mouse)	SS
P98199	Atp8b2	Phospholipid-transporting ATPase ID	Mus musculus (Mouse)	PR
P70704	Atp8a1	Phospholipid-transporting ATPase IA	Mus musculus (Mouse)	PR
D4AA47	Atp8b1	Phospholipid-transporting ATPase IC	Rattus norvegicus (Rat)	SS
Q9U280	tat-1	Phospholipid-transporting ATPase tat-1	Caenorhabditis elegans	PR
Q5BL50	atp8b1	Phospholipid-transporting ATPase IC	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	SS

10	20	30	40	50	60
MPTMRRTVSE	IRSRAEGYEK	TDDVSEKTSL	ADQEEVRTIF	INQPQLTKFC	NNHVSTAKYN
70	80	90	100	110	120
IITFLPRFLY	SQFRRAANSF	FLFIALLQQI	PDVSPTGRYT	TLVPLLFILA	VAAIKEIIED
130	140	150	160	170	180
IKRHKADNAV	NKKQTQVLRN	GAWEIVHWEK	VAVGEIVKVT	NGEHLPADLI	SLSSSEPQAM
190	200	210	220	230	240
CYIETSNLDG	ETNLKIRQGL	PATSDIKDVD	SLMRISGRIE	CESPNRHLYD	FVGNIRLDGH
250	260	270	280	290	300
GTVPLGADQI	LLRGAQLRNT	QWVHGIVVYT	GHDTKLMQNS	TSPPLKLSNV	ERITNVQILI
310	320	330	340	350	360
LFCILIAMSL	VCSVGSAIWN	RRHSGKDWYL	NLNYGGASNF	GLNFLTFIIL	FNNLIPISLL
370	380	390	400	410	420
VTLEVVKFTQ	AYFINWDLDM	HYEPTDTAAM	ARTSNLNEEL	GQVKYIFSDK	TGTLTCNVMQ
430	440	450	460	470	480
FKKCTIAGVA	YGHVPEPEDY	GCSPDEWQNS	QFGDEKTFSD	SSLLENLQNN	HPTAPIICEF
490	500	510	520	530	540
LTMMAVCHTA	VPEREGDKII	YQAASPDEGA	LVRAAKQLNF	VFTGRTPDSV	IIDSLGQEER
550	560	570	580	590	600
YELLNVLEFT	SARKRMSVIV	RTPSGKLRLY	CKGADTVIYD	RLAETSKYKE	ITLKHLEQFA
610	620	630	640	650	660
TEGLRTLCFA	VAEISESDFQ	EWRAVYQRAS	TSVQNRLLKL	EESYELIEKN	LQLLGATAIE
670	680	690	700	710	720
DKLQDQVPET	IETLMKADIK	IWILTGDKQE	TAINIGHSCK	LLKKNMGMIV	INEGSLDGTR
730	740	750	760	770	780
ETLSRHCTTL	GDALRKENDF	ALIIDGKTLK	YALTFGVRQY	FLDLALSCKA	VICCRVSPLQ
790	800	810	820	830	840
KSEVVEMVKK	QVKVVTLAIG	DGANDVSMIQ	TAHVGVGISG	NEGLQAANSS	DYSIAQFKYL
850	860	870	880	890	900
KNLLMIHGAW	NYNRVSKCIL	YCFYKNIVLY	IIEIWFAFVN	GFSGQILFER	WCIGLYNVMF
910	920	930	940	950	960
TAMPPLTLGI	FERSCRKENM	LKYPELYKTS	QNALDFNTKV	FWVHCLNGLF	HSVILFWFPL
970	980	990	1000	1010	1020
KALQYGTAFG	NGKTSDYLLL	GNFVYTFVVI	TVCLKAGLET	SYWTWFSHIA	IWGSIALWVV
1030	1040	1050	1060	1070	1080
FFGIYSSLWP	AIPMAPDMSG	EAAMLFSSGV	FWMGLLFIPV	ASLLLDVVYK	VIKRTAFKTL
1090	1100	1110	1120	1130	1140
VDEVQELEAK	SQDPGAVVLG	KSLTERAQLL	KNVFKKNHVN	LYRSESLQQN	LLHGYAFSQD
1150	1160
ENGIVSQSEV	IRAYDTTKQR	PDEW