AiPD: Autoinhibited Protein Database

Q8NE71

Gene name	ABCF1 (ABC50)
Protein name	ATP-binding cassette sub-family F member 1
Names	ATP-binding cassette 50, TNF-alpha-stimulated ABC protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

216-304 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

216-304 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

2 structures for Q8NE71

Entry ID	Method	Resolution	Chain	Position	Source
5ZXD	X-ray	229 A	A/B	300-841	PDB
AF-Q8NE71-F1	Predicted				AlphaFoldDB

577 variants for Q8NE71

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000190191 CA204184 rs754981516	759	R>W	Long QT syndrome [ClinVar]	Yes	ExAC gnomAD ClinGen ClinVar dbSNP
CA3698168 rs529428649	2	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs529428649 CA3698167	2	P>R		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1281960294 CA363081839	2	P>T		No	gnomAD ClinGen
CA3698169 rs770992423	3	K>N		No	ExAC gnomAD ClinGen
CA3698171 rs759683043	5	P>R		No	ClinGen ExAC gnomAD
rs149350645 CA3698170	5	P>S		No	ESP ExAC gnomAD ClinGen
rs751410322 CA3698173	7	Q>P		No	ExAC gnomAD ClinGen
CA3698174 rs761595750	8	Q>*		No	ExAC gnomAD ClinGen
CA3698175 rs767397757 COSM1294235	9	P>L	lung cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
rs767397757 CA136091758	9	P>Q		No	ExAC gnomAD ClinGen
CA136091776 rs1018741162	10	P>L		No	TOPMed gnomAD ClinGen
CA363081888 rs1018741162	10	P>R		No	TOPMed gnomAD ClinGen
rs750356816 CA3698176	10	P>S		No	ExAC gnomAD ClinGen
CA3698178 rs549451699	11	E>D		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs754620950 CA3698180	12	P>L		No	ExAC TOPMed gnomAD ClinGen
rs753547024 CA3698179	12	P>S		No	ExAC gnomAD ClinGen
CA363081901 rs1343593955	13	E>K		No	ClinGen TOPMed gnomAD
CA3698181 rs778697095	16	G>R		No	ExAC ClinGen
rs919986137 CA136091788	17	D>N		No	Ensembl ClinGen
rs371238358 CA3698183	18	G>R		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	19	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1294236 rs1048893050 CA136091801	20	S>N	cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs1403613395 CA363081958	21	T>A		No	gnomAD ClinGen
rs376093203 CA3698185	21	T>M		No	ClinGen ESP ExAC gnomAD
rs376093203 CA3698184	21	T>R		No	ESP ExAC gnomAD ClinGen
rs370107811 CA3698189	23	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	23	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373820556 CA136091830	25	D>H		No	ESP ExAC TOPMed gnomAD ClinGen
CA3698191 rs373820556	25	D>N		No	ESP ExAC TOPMed gnomAD ClinGen
rs773003863 CA3698211	26	K>E		No	ClinGen ExAC
rs1415230717 CA363082001	26	K>R		No	gnomAD ClinGen
CA363082011 rs1409875081	28	V>M		No	gnomAD ClinGen
rs1188483266 CA363082022	29	K>M		No	gnomAD ClinGen
CA136096904 rs1041158724	31	G>E		No	TOPMed ClinGen
rs760375402 CA3698212	32	K>R		No	ExAC gnomAD ClinGen
rs1335691275 CA363082063	35	K>Q		No	gnomAD ClinGen
CA3698214 rs766492613	36	K>Q		No	ExAC TOPMed gnomAD ClinGen
rs368431649 CA136096916	36	K>R		No	ESP TOPMed ClinGen
rs776582273	36	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1395530195 CA363082075	37	I>F		No	ClinGen TOPMed
rs535721110 CA136096923	37	I>M		No	ClinGen 1000Genomes gnomAD
rs1395530195 CA363082077	37	I>V		No	TOPMed ClinGen
CA3698217 rs144819203	40	T>K		No	ESP ExAC TOPMed gnomAD ClinGen
CA3698216 rs144819203	40	T>M		No	ESP ExAC TOPMed gnomAD ClinGen
CA3698215 rs555605919	40	T>P		No	1000Genomes ExAC TOPMed gnomAD ClinGen
TCGA novel	40	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3698234 rs759479078	44	E>A		No	ExAC gnomAD ClinGen
CA363082143 rs1478425893	45	L>P		No	gnomAD ClinGen
rs775120105 CA3698236	51	Q>R		No	ExAC ClinGen
rs763844970 CA3698238	52	A>S		No	ExAC gnomAD ClinGen
CA3698239 rs751151778	53	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1404226235 CA363082262	62	K>R		No	TOPMed gnomAD ClinGen
CA363082305 rs1233631600	67	Q>H		No	gnomAD ClinGen
rs1451757951 CA363082316	69	Q>*		No	TOPMed ClinGen
CA363082318 rs1350220505	69	Q>R		No	gnomAD ClinGen
rs754017026 CA3698248	72	Q>*		No	ExAC gnomAD ClinGen
rs1248916248 CA363082365	73	Q>K		No	TOPMed ClinGen
rs555740367 CA3698269	73	Q>P		No	1000Genomes ExAC gnomAD ClinGen
rs191359115 COSM595653 CA3698270	76	K>R	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	1000Genomes ExAC TOPMed ClinGen cosmic curated NCI-TCGA
rs1561786344 CA363082396	77	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
rs377260018 CA3698272	77	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA136097388 rs978725879	78	D>V		No	TOPMed ClinGen
CA363082407 rs1216057434	79	T>A		No	TOPMed gnomAD ClinGen
rs1042236379 CA136097393	79	T>I		No	TOPMed gnomAD ClinGen
CA363082411 rs1370178371	80	R>G		No	TOPMed gnomAD ClinGen
CA136097403 rs890415967	80	R>Q		No	TOPMed gnomAD ClinGen
rs944594089 CA136097408	81	K>E		No	gnomAD ClinGen
CA136097424 rs368975352	82	G>S		No	Ensembl ClinGen
CA3698275 rs778133014	84	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA3698274 rs758747187	84	R>W		No	ExAC TOPMed gnomAD ClinGen
rs745695064 CA3698276	85	K>Q		No	ClinGen ExAC gnomAD
rs769686782 CA3698277	85	K>T		No	ExAC gnomAD ClinGen
rs1308708232 CA363082449	86	K>N		No	TOPMed ClinGen
rs199910093 CA3698278	87	D>E		No	ExAC TOPMed gnomAD ClinGen
CA3698279 rs749142664	89	D>G		No	ExAC gnomAD ClinGen
rs1373808926 CA363082466	89	D>Y		No	TOPMed ClinGen
rs577682644 CA3698283	91	D>A		No	1000Genomes ExAC gnomAD ClinGen
rs1415367005 CA3698284	91	D>E		No	TOPMed ClinGen
CA3698281 rs143964760	91	D>H		No	ESP ExAC TOPMed gnomAD ClinGen
COSM1197499 CA3698282 rs143964760	91	D>N	lung [Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated
CA3698280 rs143964760	91	D>Y		No	ESP ExAC TOPMed gnomAD ClinGen
rs764400757 CA3698286	92	G>R		No	ExAC TOPMed gnomAD ClinGen
CA3698287 rs761079000	93	E>K		No	ExAC gnomAD ClinGen
rs147307156 CA3698288	94	E>*		No	ESP ExAC TOPMed gnomAD ClinGen
rs147307156 CA136097483	94	E>K		No	ESP ExAC TOPMed gnomAD ClinGen
rs777196438 CA3698289	94	E>V		No	ExAC TOPMed gnomAD ClinGen
rs759899008 CA3698290	98	M>L		No	ExAC gnomAD ClinGen
rs759899008 CA136097494	98	M>V		No	ClinGen ExAC gnomAD
CA3698291 rs543085187	100	R>C		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs543085187 CA3698292	100	R>G		No	1000Genomes ExAC TOPMed gnomAD ClinGen
COSM185075 CA3698293 rs757435705	100	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1371210007 CA363082545	102	K>E		No	ClinGen gnomAD
CA363082563 rs1582575539	104	L>F		No	Ensembl ClinGen
CA3698294 rs764458544	104	L>P		No	ExAC TOPMed ClinGen
CA363082565 rs764458544	104	L>R		No	ExAC TOPMed ClinGen
CA3698296 rs199863167	106	V>G		No	ExAC gnomAD ClinGen
rs1227778974 CA363082574	106	V>L		No	TOPMed ClinGen
CA136097519 rs201200534	108	T>A		No	ClinGen Ensembl
rs796973175 CA136097529	109	S>N		No	TOPMed ClinGen
CA363082600 CA3698299 rs749262164	110	D>E		No	ExAC TOPMed ClinGen
rs1561786682 CA363082598	110	D>G		No	Ensembl ClinGen
CA3698297 rs779648161	110	D>N		No	ExAC gnomAD ClinGen
rs1353838763 CA363082628	114	E>A		No	TOPMed ClinGen
rs1460322724 CA363082648	115	V>A		No	TOPMed ClinGen
CA3698300 rs373329306	115	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs139543114 CA3698324	117	A>D		No	ESP ExAC TOPMed gnomAD ClinGen
CA3698323 rs777204865	117	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs1217275864 CA363082678	120	P>L	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs200790236 CA3698326	121	R>C		No	ExAC TOPMed gnomAD ClinGen
CA3698327 rs145174924	121	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs150508727 CA3698329	122	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1262352680 CA363082688	123	G>R		No	ClinGen gnomAD
rs549377628 CA363082695	124	K>*		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs549377628 CA3698331	124	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1421535959 CA363082700	124	K>N		No	gnomAD ClinGen
CA363082697 rs1378574999	124	K>R		No	gnomAD ClinGen
rs1450817992 CA363082702	125	K>E		No	TOPMed gnomAD ClinGen
rs749657592 CA3698347	128	G>S		No	ExAC gnomAD ClinGen
CA3698348 rs769354763	130	N>S		No	ExAC gnomAD ClinGen
TCGA novel	130	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3698352 rs773339448	133	A>T		No	ExAC TOPMed gnomAD ClinGen
rs201652352 CA3698353	133	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA363082773 rs1429984130	134	A>D		No	ClinGen TOPMed
rs1313712878 CA363082779	135	L>P		No	gnomAD ClinGen
CA136097790 rs909754222	137	Q>E		No	TOPMed gnomAD ClinGen
rs1229985948 CA363082791	137	Q>R		No	TOPMed gnomAD ClinGen
CA3698354 rs766570808	140	S>N		No	ExAC gnomAD ClinGen
CA363082866 rs1381011468	147	E>K		No	Ensembl ClinGen
TCGA novel	149	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs930362615 CA136097806	150	P>L		No	Ensembl ClinGen
rs764067244 CA3698359	153	P>R		No	ExAC TOPMed gnomAD ClinGen
CA363082924 rs1554120668	155	K>R		No	Ensembl ClinGen
rs139441312 CA3698361	156	P>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs750059982 CA3698363	159	N>H		No	ExAC TOPMed gnomAD ClinGen
rs755889776 CA3698364	160	R>Q		No	ExAC TOPMed gnomAD ClinGen
rs1277226850 CA363082957	160	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
CA363082965 rs1333053676	161	I>T		No	gnomAD ClinGen
rs1449507589 CA363082971	162	N>S		No	TOPMed gnomAD ClinGen
rs779273946	164	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs748444908 CA3698387	165	V>I		No	ExAC gnomAD ClinGen
rs748444908 CA3698388	165	V>L		No	ExAC gnomAD ClinGen
rs571983972 CA3698389	166	S>C		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA136098827 rs17853301	166	S>P		No	Ensembl ClinGen
rs747137645 CA3698390	167	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs1215119987 CA363083039	170	Q>H		No	gnomAD ClinGen
rs1265898682 CA363083040	171	P>S		No	ClinGen gnomAD
rs746021660 CA3698393	174	K>E		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	177	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767530405 CA3698397	179	K>M		No	ExAC gnomAD ClinGen
rs773261604 CA3698398	180	E>K		No	ExAC TOPMed gnomAD ClinGen
CA3698399 rs760288609	183	S>T		No	ExAC gnomAD ClinGen
rs1329609287 CA363083246	186	K>R		No	ClinGen gnomAD
rs1270649244 CA363083262	187	A>G		No	TOPMed ClinGen
CA363083344 rs1422682776	191	N>S		No	gnomAD ClinGen
CA3698426 rs773318274	192	K>R		No	ExAC gnomAD ClinGen
rs1253619622 CA363083365	194	A>T		No	TOPMed ClinGen
CA363083370 rs1202268148	195	A>S		No	TOPMed ClinGen
rs6902544 CA3698428 VAR_048136	198	N>D		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
rs961589649 CA136099300	198	N>S		No	gnomAD ClinGen
CA3698429 rs776344156	199	E>K		No	ExAC TOPMed gnomAD ClinGen
CA363083401 rs1464233675	200	E>K		No	gnomAD ClinGen
TCGA novel	200	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3698431 rs764985527	202	D>H		No	ExAC TOPMed gnomAD ClinGen
rs752239920 CA3698432	203	K>E		No	ExAC gnomAD ClinGen
rs1254806317 CA363083431	204	E>K		No	gnomAD ClinGen
CA363083444 rs1334619828	205	E>D		No	TOPMed ClinGen
CA3698433 rs148910105	205	E>K		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA363083446 rs1234338228	206	E>K		No	ClinGen gnomAD
rs1190611048 CA363083460	207	I>M		No	gnomAD ClinGen
CA363083466 rs1469228035	208	I>T		No	TOPMed ClinGen
CA3698434 rs764298332	210	E>G		No	ExAC gnomAD ClinGen
rs1200169984 CA363083488	211	K>R		No	gnomAD ClinGen
CA363083501 rs1405517402	213	P>S		No	TOPMed ClinGen
rs188349840 CA3698435	215	K>E		No	1000Genomes ExAC gnomAD ClinGen
rs1177219270 CA363083514	215	K>R		No	TOPMed ClinGen
rs867279139 CA136099329	220	K>R		No	Ensembl ClinGen
CA363083557 rs1582582165	221	A>S		No	Ensembl ClinGen
rs144087897 CA363084282	228	S>*		No	ESP ExAC TOPMed gnomAD ClinGen
CA3698455 rs144087897	228	S>L		No	ESP ExAC TOPMed gnomAD ClinGen
CA363084322 rs1435353518	230	E>G		No	gnomAD ClinGen
CA136100376 rs925493762	231	E>G		No	Ensembl ClinGen
CA363084356 rs1359177537	232	G>A		No	ClinGen gnomAD
rs1158575381	232	G>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA363084409 rs1289797986	235	E>D		No	gnomAD ClinGen
CA3698459 rs756252890	235	E>V		No	ExAC TOPMed gnomAD ClinGen
rs752843350 CA136100382	237	E>K		No	Ensembl ClinGen
CA3698462 rs369990817	242	G>R		No	ESP ExAC gnomAD ClinGen
rs755216112 CA3698463	243	E>Q		No	ExAC gnomAD ClinGen
rs1401036513 CA363084591	246	A>P		No	TOPMed ClinGen
CA136100409 rs933349143	247	D>G		No	TOPMed ClinGen
CA363084606 rs933349143	247	D>V		No	TOPMed ClinGen
rs1238708408 CA363084620	248	D>E		No	gnomAD ClinGen
rs1051752236 CA136100410	249	P>L		No	Ensembl ClinGen
rs971089447 CA136100416	250	Y>F		No	TOPMed gnomAD ClinGen
CA3698464 rs200347349	251	A>G		No	ExAC gnomAD ClinGen
CA363084660 rs1216284485	251	A>S		No	gnomAD ClinGen
CA363084666 rs200347349	251	A>V		No	ClinGen ExAC gnomAD
rs746847046 CA3698465	253	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA363084698 rs1435229987	254	S>G		No	TOPMed ClinGen
CA363084718 rs1189704956	255	K>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs1379017253 CA363084833	261	L>M		No	TOPMed ClinGen
TCGA novel	264	Q>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1469061585 CA363084907	265	M>R		No	ClinGen gnomAD
rs755083815 CA3698480	265	M>V		No	ExAC TOPMed gnomAD ClinGen
rs1200261305 CA363084925	267	Y>F		No	TOPMed ClinGen
rs375099025 CA136100886	269	R>C		No	ESP gnomAD ClinGen
rs1236470926 CA363084938	269	R>H	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA3698481 rs765577016	272	A>T		No	ExAC gnomAD ClinGen
TCGA novel	275	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363084983 rs1422507016	276	A>E		No	ClinGen gnomAD
CA3698482 rs752924162	276	A>P		No	ExAC gnomAD ClinGen
rs1582587493 CA363084991	277	A>V		No	Ensembl ClinGen
rs780792535 CA3698485	278	N>S		No	ClinGen ExAC TOPMed gnomAD
CA363085020 rs1375583495	282	N>D		No	TOPMed ClinGen
TCGA novel	284	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1422039008 CA363085049	286	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
CA3698489 rs372699135 CA363085067	288	Q>H		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1414826710 CA363085070	289	A>T		No	TOPMed ClinGen
CA3698490 rs768108149	289	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA363085079 rs1229865804	290	E>D		No	gnomAD ClinGen
rs772442028 CA3698493	291	M>I		No	ExAC TOPMed gnomAD ClinGen
CA3698492 rs747734836	291	M>L		No	ExAC gnomAD ClinGen
TCGA novel	292	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1256334169 CA363085095	293	S>P		No	gnomAD ClinGen
CA136101041 rs988315756	296	A>T		No	TOPMed ClinGen
rs1471171131 CA363085127	297	M>I		No	TOPMed ClinGen
CA363085147 rs1237469951	300	N>S		No	gnomAD ClinGen
rs185298446 CA136101054	305	K>M		No	1000Genomes gnomAD ClinGen
TCGA novel	305	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs562831377 CA3698516	313	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3698517 rs562831377	313	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751018275 CA136101443	314	H>R		No	Ensembl ClinGen
rs11552605 CA3698521	319	F>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs548473493 CA3698522	320	V>I		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA3698523 rs200316293	321	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA363085316 rs1214956697	323	D>E		No	gnomAD ClinGen
rs754968525 CA3698524	324	L>P		No	ExAC gnomAD ClinGen
CA136101478 rs779749479	325	Y>F		No	Ensembl ClinGen
CA3698525 rs778822213	326	I>V		No	ClinGen ExAC TOPMed gnomAD
CA3698527 rs757873673	328	A>S		No	ExAC TOPMed gnomAD ClinGen
rs1379668575 CA363085350	329	G>A		No	gnomAD ClinGen
CA3698529 rs527747770 COSM3430458	329	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
TCGA novel	331	R>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363085359 rs1417754948	331	R>C		No	ClinGen gnomAD
CA3698530 rs771210465	331	R>H		No	ExAC gnomAD ClinGen
TCGA novel	331	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	332	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763199273 CA363085394	337	P>A		No	ExAC TOPMed gnomAD ClinGen
rs763199273 CA3698533	337	P>S		No	ExAC TOPMed gnomAD ClinGen
CA3698557 rs748174962	340	K>Q		No	ExAC TOPMed gnomAD ClinGen
CA3698558 rs772382046	344	T>A		No	ExAC TOPMed gnomAD ClinGen
rs1244582519 CA363085502	345	L>V		No	gnomAD ClinGen
rs1046639081 CA136101649	349	I>V		No	Ensembl ClinGen
CA363085587 rs1256955671	350	A>S		No	ClinGen gnomAD
CA3698560 rs759353766	351	N>S		No	ExAC TOPMed gnomAD ClinGen
rs759353766 CA136101653	351	N>T		No	ExAC TOPMed gnomAD ClinGen
CA3698561 rs764940531	352	R>*		No	ClinGen ExAC gnomAD
rs570810638 CA3698562	352	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs763002705 CA3698563	353	A>D		No	ExAC TOPMed gnomAD ClinGen
CA363085626 rs1313904468	353	A>S		No	TOPMed ClinGen
CA3698564 rs763931956	355	S>G		No	ExAC gnomAD ClinGen
rs751118558 CA3698565	355	S>N		No	ExAC TOPMed gnomAD ClinGen
CA363085704 rs1475381776	359	N>S		No	gnomAD ClinGen
CA363085725 rs1346951933	360	I>T		No	TOPMed gnomAD ClinGen
CA363085742 rs1423179581	361	D>G		No	gnomAD ClinGen
CA136101673 rs926587254	362	V>M		No	ClinGen Ensembl
CA136101674 rs937936818	368	E>*		No	gnomAD ClinGen
CA363085952 rs1295769297	370	V>I		No	gnomAD ClinGen
rs761416678 CA3698584	372	D>G		No	ExAC gnomAD ClinGen
rs767069612 CA3698585	378	Q>*		No	ExAC ClinGen
TCGA novel	378	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363086079 rs1220624930	379	A>S		No	Ensembl ClinGen
rs1282463640 CA363086090	379	A>V		No	gnomAD ClinGen
CA3698586 rs750113542	380	V>I		No	ExAC TOPMed gnomAD ClinGen
rs760462756 CA3698587	382	R>*		No	ExAC TOPMed gnomAD ClinGen
CA363086130 rs749772013	382	R>L		No	gnomAD ClinGen
rs749772013 CA136101891	382	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs766128396 CA3698588	383	A>T		No	ClinGen ExAC gnomAD
CA363086143 rs1213650863	383	A>V		No	gnomAD ClinGen
CA136101925 rs913097984	385	T>N		No	TOPMed ClinGen
CA3698589 rs754272444	385	T>S		No	ExAC gnomAD ClinGen
rs571685583 CA136101931	386	K>E		No	Ensembl ClinGen
rs755279541 CA3698590	386	K>R		No	ExAC gnomAD ClinGen
CA136101940 rs866488428	387	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA363086265 rs1582590601	392	E>K		No	Ensembl ClinGen
CA363086273 rs1334818037	393	E>K		No	TOPMed ClinGen
rs1455610951 CA363086794	394	E>K		No	ClinGen gnomAD
rs375024593 CA3698592	395	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs989406749 CA136101949	395	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
RCV000886601 CA3698594 rs61741255	396	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs758483768 CA3698593	396	R>W		No	ExAC gnomAD ClinGen
rs1371044290 CA363086825	399	G>E		No	gnomAD ClinGen
CA363086866 rs1239367154	405	D>V		No	gnomAD ClinGen
TCGA novel	410	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363086966 rs1203898118	417	E>D		No	gnomAD ClinGen
CA136102071 rs971397149	420	R>L		No	gnomAD ClinGen
CA363086983 rs971397149	420	R>Q		No	gnomAD ClinGen
rs868768673 CA136102068	420	R>W		No	TOPMed ClinGen
rs1296192468 CA363086996	422	T>I		No	TOPMed ClinGen
CA3698609 rs765458117	424	A>V		No	ExAC gnomAD ClinGen
CA363087033 rs1159413189	428	E>D		No	TOPMed ClinGen
TCGA novel	431	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1418104485 CA363087055	432	R>W		No	gnomAD ClinGen
rs1167664540 CA363087061	433	R>Q		No	gnomAD ClinGen
rs1408912047 CA363087059	433	R>W		No	gnomAD ClinGen
CA363087100 rs1233144010	440	F>L		No	gnomAD ClinGen
CA363087116 rs1214260795	442	P>A		No	ClinGen TOPMed
rs1445969473 CA363087120	442	P>L		No	TOPMed ClinGen
CA363087138 rs1353333130	445	Q>*		No	gnomAD ClinGen
CA3698614 rs576645797	446	N>S		No	1000Genomes ExAC gnomAD ClinGen
rs1284313988 CA363087155	447	R>Q		No	TOPMed ClinGen
CA363087163 rs1335702322	448	P>L		No	ClinGen gnomAD
rs542422641 CA3698615	449	T>I		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA363087170 rs1332246711	450	Q>*		No	TOPMed ClinGen
rs746010427 CA3698616	450	Q>H		No	ExAC gnomAD ClinGen
TCGA novel	451	K>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1034407902 CA136102133	453	S>*		No	Ensembl ClinGen
rs1205851194 CA363087201	454	G>E		No	gnomAD ClinGen
rs747954582 CA3698620	456	W>*		No	ExAC gnomAD ClinGen
CA3698621 rs772178279	457	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs1582591476 CA363087220	457	R>H		No	Ensembl ClinGen
CA3698622 rs773263185	458	M>L		No	ExAC gnomAD ClinGen
rs989311808 CA136102188	464	R>T		No	TOPMed gnomAD ClinGen
TCGA novel	465	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777892705 CA363087296	467	F>L		No	ExAC gnomAD ClinGen
rs907620141 CA136102674	470	P>H		No	Ensembl ClinGen
rs1325211427 CA363087324	471	T>I		No	ClinGen TOPMed
rs940896964 CA363087327	472	L>P		No	Ensembl ClinGen
rs940896964 CA136102685	472	L>R		No	Ensembl ClinGen
CA3698643 CA363087334 rs776067726	474	M>L		No	ExAC TOPMed gnomAD ClinGen
CA363087344 rs1323542994	475	L>Q		No	TOPMed ClinGen
CA363087383 rs1582593159	481	H>Y		No	Ensembl ClinGen
CA363087405 rs1357967621	484	L>V		No	gnomAD ClinGen
CA363087411 rs1193806919	485	N>D		No	TOPMed ClinGen
TCGA novel	486	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1191782688 CA363087424	487	V>I		No	TOPMed ClinGen
CA363087443 rs1237153731	489	W>*		No	gnomAD ClinGen
CA566685963 rs1255294532	489	W>*		No	gnomAD ClinGen
CA3698649 rs774851986	490	L>V		No	ClinGen ExAC TOPMed gnomAD
CA363087488 rs1329317859	494	L>V		No	TOPMed ClinGen
rs748881746 CA3698666	498	R>Q		No	ExAC gnomAD ClinGen
CA363087540 rs1561797335	501	L>F		No	Ensembl ClinGen
rs1233256024 CA363087534	501	L>M		No	gnomAD ClinGen
CA3698667 rs141138263	504	V>I		No	ESP ExAC TOPMed gnomAD ClinGen
rs150727510 CA3698668	513	D>E		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA363087622 rs1463120876	513	D>V		No	TOPMed gnomAD ClinGen
rs1174579046 CA363087624	514	V>I		No	TOPMed ClinGen
rs1395817409 CA363087644	517	D>N		No	ClinGen gnomAD
CA363087649 rs1561797432	517	D>V		No	Ensembl ClinGen
CA3698670 rs762208937	518	I>L		No	ExAC gnomAD ClinGen
CA3698669 rs762208937	518	I>V		No	ClinGen ExAC gnomAD
CA3698671 rs370944948	522	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3698672 rs760703272	523	A>S		No	ExAC TOPMed gnomAD ClinGen
rs766504454 CA3698673	523	A>V		No	ExAC gnomAD ClinGen
CA363087693 rs1324983336	524	Q>R		No	gnomAD ClinGen
rs937467502 CA136102976	525	R>Q		No	TOPMed gnomAD ClinGen
rs1245012407 CA363087698	525	R>W		No	ClinGen gnomAD
CA363087701 rs1561797538	526	L>F		No	Ensembl ClinGen
CA3698674 rs139398458	527	H>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA3698675 rs759900446	529	Y>C		No	ExAC TOPMed gnomAD ClinGen
CA136102979 rs914819438	530	R>S		No	TOPMed ClinGen
rs867892542 CA136102996	531	G>D		No	Ensembl ClinGen
CA363087744 rs1485253707	532	N>S		No	gnomAD ClinGen
CA363087813 rs1190571856	539	M>I		No	gnomAD ClinGen
CA3698683 rs748765227	540	Y>D		No	ExAC gnomAD ClinGen
CA136103089 rs1057266347	543	K>R		No	TOPMed ClinGen
CA136103090 rs944153672	547	L>Q		No	Ensembl ClinGen
rs1041486525 CA136103106	548	L>Q		No	ClinGen Ensembl
rs1377655905 CA363087888	550	Q>*		No	TOPMed gnomAD ClinGen
rs1377655905 CA363087887	550	Q>E		No	TOPMed gnomAD ClinGen
CA136103116 rs546592611 COSM1621385	552	E>G	liver [Cosmic]	No	Ensembl ClinGen cosmic curated
rs895886164 CA136103127	553	K>T		No	TOPMed gnomAD ClinGen
rs758839604 CA136103131	557	K>R		No	Ensembl ClinGen
CA136103132 rs536368215	560	E>K		No	TOPMed ClinGen
CA363088007 rs1232009994	567	S>P		No	ClinGen gnomAD
rs1305450102 CA363088013	568	T>A		No	gnomAD ClinGen
rs1312626291 CA363088026	570	Q>*		No	gnomAD ClinGen
rs1238050608 CA363088039	571	A>V		No	ClinGen gnomAD
rs1296309582 CA363088072	574	Q>R		No	gnomAD ClinGen
rs370684998 CA3698698	575	T>M		No	ExAC TOPMed gnomAD ClinGen
rs1355026401 CA363088098	578	A>S		No	ClinGen gnomAD
rs1355026401 CA363088097	578	A>T		No	gnomAD ClinGen
CA3698701 rs759216375	580	T>I		No	ExAC TOPMed gnomAD ClinGen
CA136103310 rs759216375	580	T>N		No	ExAC TOPMed gnomAD ClinGen
rs1383510346 CA363088108	580	T>P		No	gnomAD ClinGen
rs747793457 CA3698703	581	R>Q		No	ExAC gnomAD ClinGen
rs139895684 CA3698702	581	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA363088151 rs1250124990	586	C>F		No	gnomAD ClinGen
rs758709196 CA3698704	586	C>R		No	ExAC gnomAD ClinGen
rs778244915 CA3698705	587	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs369065380 CA3698706	587	R>Q		No	ESP ExAC TOPMed gnomAD ClinGen
CA363088158 rs1474040980	588	R>Q		No	ClinGen TOPMed gnomAD
CA3698707 rs771626632	588	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1432392472 CA363088165	589	K>R		No	TOPMed ClinGen
CA363088188 rs1176389489	592	D>G		No	TOPMed ClinGen
rs777222579 CA3698708	592	D>N		No	ClinGen ExAC TOPMed gnomAD
CA3698709 rs745948866	593	E>G		No	ClinGen ExAC TOPMed gnomAD
CA363088204 rs1168304540	594	E>D		No	gnomAD ClinGen
CA3698710 rs199736331	594	E>G		No	1000Genomes ExAC ClinGen
rs1372301208 CA363088209	595	S>F		No	gnomAD ClinGen
TCGA novel	597	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1430210398 CA363088226	597	E>D		No	ClinGen gnomAD
rs143395687 CA3698711	598	A>G		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA363088229 rs1405269465	598	A>S		No	TOPMed ClinGen
rs143395687 CA3698712	598	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs115337170 RCV000968082 CA3698713	599	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1472793147 CA363088234	599	P>S		No	TOPMed ClinGen
rs760449217 CA3698715	602	L>R		No	ExAC gnomAD ClinGen
rs1380066235 COSM3784498 CA363088265	604	R>C	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	gnomAD ClinGen cosmic curated NCI-TCGA
CA3698716 rs766316432	604	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs753706664 CA3698717	611	R>C		No	ExAC TOPMed gnomAD ClinGen
rs904486732 CA136103426	611	R>H		No	TOPMed gnomAD ClinGen
rs958430311 CA136103427	614	F>I		No	Ensembl ClinGen
TCGA novel	615	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775169627 CA136103430	616	D>E		No	Ensembl ClinGen
rs1255518429 CA363088353	617	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs754512420 CA3698718	618	P>Q		No	ExAC gnomAD ClinGen
CA3698719 rs754512420	618	P>R		No	ExAC gnomAD ClinGen
rs752123349 CA3698720	622	P>L		No	ExAC gnomAD ClinGen
rs1582596109 CA363088387	623	P>L		No	Ensembl ClinGen
rs758141416 CA3698721	623	P>S		No	ExAC gnomAD ClinGen
rs1210843189 CA363088403	626	G>A		No	TOPMed ClinGen
CA3698722 rs777281208	627	L>P		No	ExAC gnomAD ClinGen
CA3698723 rs148962845	628	H>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA363088411 rs1314181547	628	H>Y		No	TOPMed ClinGen
CA363088690 rs1325879449	629	G>D		No	gnomAD ClinGen
CA363088697 rs1329821516	630	V>A		No	gnomAD ClinGen
rs1435398314 CA363088702	631	T>K		No	ClinGen TOPMed
rs376138346 CA3698744	633	G>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs530528484 CA3698745	633	G>V		No	1000Genomes ExAC gnomAD ClinGen
rs768551090 CA3698747	634	Y>*		No	ExAC gnomAD ClinGen
CA3698746 rs749399707	634	Y>C		No	ExAC gnomAD ClinGen
CA3698748 rs550300850	635	Q>E		No	1000Genomes ExAC TOPMed gnomAD ClinGen
TCGA novel	636	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1369057831 CA363088752	639	P>T		No	TOPMed ClinGen
CA3698749 rs748317798	646	F>L		No	ClinGen ExAC gnomAD
CA3698752 rs759318760	649	D>G		No	ExAC gnomAD ClinGen
CA3698751 rs776446823	649	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs1157285987 CA363088831	650	M>T		No	ClinGen gnomAD
rs1048441743 CA136103670	650	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA363088839 rs1414436733	651	D>Y		No	ClinGen gnomAD
rs777918324 CA3698769	656	I>T		No	ExAC gnomAD ClinGen
CA3698768 rs772342557	656	I>V		No	ClinGen ExAC gnomAD
rs11758960 CA136103770	657	V>E		No	Ensembl ClinGen
CA363088891 rs1164399042	657	V>L		No	gnomAD ClinGen
CA363088997 rs1386067244	672	T>I		No	TOPMed ClinGen
TCGA novel	673	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758852301 CA136103804	674	K>N		No	TOPMed ClinGen
CA363089024 rs1310056704	674	K>R		No	gnomAD ClinGen
rs780411175 CA136103810	677	P>A		No	gnomAD ClinGen
CA363089066 rs762848174	677	P>L		No	ExAC TOPMed gnomAD ClinGen
CA3698773 rs762848174	677	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA363089770 rs1316961935	679	H>Q		No	TOPMed ClinGen
CA3698783 rs766538220	679	H>R		No	ExAC gnomAD ClinGen
rs1317043259 CA363089771	680	G>R		No	ClinGen gnomAD
CA363089777 rs1243354838	681	E>K		No	ClinGen TOPMed
rs566683303 CA3698784	682	M>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1288915039 CA363089795	683	R>K		No	gnomAD ClinGen
CA3698785 rs377013523	684	K>Q		No	ESP ExAC ClinGen
CA3698787 rs747153266	686	H>P		No	ExAC gnomAD ClinGen
rs778004383 CA3698786	686	H>Y		No	ExAC gnomAD ClinGen
rs576617500 CA136766861	687	R>L		No	ExAC TOPMed gnomAD ClinGen
COSM185084 rs576617500 CA3698789	687	R>Q	large_intestine [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
rs532558882 CA3698788	687	R>W		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1417844189 CA363089856	691	G>D		No	ClinGen gnomAD
TCGA novel	693	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781463212 CA3698806	694	N>S		No	ExAC gnomAD ClinGen
rs754751811 CA3698808	696	Q>L		No	ExAC gnomAD ClinGen
rs754751811 CA363089893	696	Q>P		No	ExAC gnomAD ClinGen
rs1189922857 CA363089912	699	E>*		No	gnomAD ClinGen
CA3698810 rs748047067	699	E>D		No	ExAC gnomAD ClinGen
CA136766867 rs111342755	699	E>G		No	Ensembl ClinGen
rs1409283635 COSM1077351 CA363089932	702	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	gnomAD ClinGen cosmic curated NCI-TCGA
rs1458394595 CA363089933	702	R>H		No	ClinGen TOPMed gnomAD
rs554634649 CA3698812	703	M>V		No	1000Genomes ExAC gnomAD ClinGen
rs1294538206 CA363089946	704	E>K		No	TOPMed ClinGen
rs1340660965 CA363089952	705	E>K		No	Ensembl ClinGen
TCGA novel	705	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746522355 CA3698813	706	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs753070834 CA363089965	707	P>A		No	Ensembl ClinGen
CA136766868 rs753070834	707	P>S		No	Ensembl ClinGen
rs916710491 CA136766869	710	Y>F		No	ClinGen TOPMed
rs568363700 CA3698815	712	Q>K		No	1000Genomes ExAC gnomAD ClinGen
CA3698816 rs759928265	713	R>Q		No	ExAC TOPMed gnomAD ClinGen
rs1032623282 CA136766870	713	R>W		No	TOPMed gnomAD ClinGen
rs775813062 CA3698818	714	G>C		No	ClinGen ExAC gnomAD
rs1268862996 CA363090029	717	L>Q		No	gnomAD ClinGen
rs763493123 CA3698819	720	Q>H		No	ExAC gnomAD ClinGen
rs764659569 CA3698820	722	A>S		No	ClinGen ExAC gnomAD
rs1267740487 CA363090067	723	R>C		No	gnomAD ClinGen
CA363090069 rs1489039227	723	R>H		No	gnomAD ClinGen
rs1267740487 CA363090066	723	R>S		No	gnomAD ClinGen
rs1204846979 CA363090085	725	C>F		No	ClinGen gnomAD
rs988384601 CA136766871	727	G>S		No	Ensembl ClinGen
rs751648823 CA3698821	728	R>C		No	ExAC gnomAD ClinGen
rs534029778 CA3698822	728	R>H		No	1000Genomes ExAC gnomAD ClinGen
rs534029778 CA3698823	728	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ExAC gnomAD ClinGen NCI-TCGA
CA136766873 rs554016041	732	E>G		No	1000Genomes ClinGen
rs1365230364 CA363090128	733	S>G		No	ClinGen TOPMed
CA363090134 rs1294315918	733	S>R		No	TOPMed ClinGen
CA363090135 rs1166902373	734	H>N		No	gnomAD ClinGen
rs1459593016 CA363090139	734	H>R		No	ClinGen TOPMed
rs1170100761 CA363090147	735	A>G		No	TOPMed ClinGen
CA3698829 rs756260282	740	I>M		No	ExAC TOPMed gnomAD ClinGen
rs1305976627 CA363090187	741	C>Y		No	gnomAD ClinGen
rs746511189 CA3698830	742	K>R		No	ExAC gnomAD ClinGen
CA3698847 rs777572931 COSM1077352	749	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
rs142636782 CA3698849	750	R>*		No	ESP ExAC gnomAD ClinGen
rs1023835580 CA136766888	751	V>A		No	ClinGen TOPMed
CA3698850 rs780797373	752	V>G		No	ExAC ClinGen
rs779623740 CA3698853	755	E>D		No	ExAC gnomAD ClinGen
CA3698852 rs755824182	755	E>V		No	ClinGen ExAC gnomAD
rs749658798 CA3698854	757	A>S		No	ExAC gnomAD ClinGen
CA363090298 rs1561804395	757	A>V		No	Ensembl ClinGen
rs769024693 CA3698855	758	C>*		No	ExAC gnomAD ClinGen
rs748736217 CA3698856	759	R>Q		No	ExAC ClinGen
rs9468790 CA136766889	762	D>H		No	TOPMed gnomAD ClinGen
rs772426004 CA3698857	763	V>A		No	ExAC TOPMed gnomAD ClinGen
rs1450957671 CA363090352	766	L>S		No	ClinGen TOPMed
TCGA novel	768	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1241161330 CA363090526	775	I>T		No	ClinGen TOPMed
COSM1621386 CA3698875 rs773792686	775	I>V	liver [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
rs866482755 CA136766893	778	I>V		No	TOPMed gnomAD ClinGen
rs1329766882 CA363090665	784	A>D		No	gnomAD ClinGen
CA3698879 rs146879289	786	N>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs759844804 CA3698880	788	Y>*		No	ExAC gnomAD ClinGen
CA363090718 rs1349526752	788	Y>H		No	gnomAD ClinGen
CA3698893 rs748026265	791	A>G		No	ExAC TOPMed gnomAD ClinGen
rs753115342 CA363091729	794	V>F		No	ExAC TOPMed gnomAD ClinGen
rs753115342 CA3698895	794	V>I		No	ExAC TOPMed gnomAD ClinGen
rs569351100 CA3698896	798	D>N		No	1000Genomes ExAC gnomAD ClinGen
COSM137909 rs769559771 CA3698897	800	R>Q	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs910454434 CA136766901	801	L>F		No	TOPMed ClinGen
rs747572370 CA3698898	801	L>H		No	ExAC gnomAD ClinGen
rs1561804985 CA363091836	803	T>A		No	Ensembl ClinGen
CA3698900 rs771536397	806	N>S		No	ExAC gnomAD ClinGen
CA363091903 rs1474066777	808	Q>*		No	gnomAD ClinGen
CA3698903 rs770070204 TCGA novel	808	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs745926971 CA3698902	808	Q>P		No	ExAC TOPMed gnomAD ClinGen
CA3698904 rs775509253	809	L>Q		No	ExAC ClinGen
CA363091961 rs1304531704	812	V>E		No	gnomAD ClinGen
rs771806744 CA3698906	812	V>M		No	ExAC TOPMed gnomAD ClinGen
CA363091966 rs1582605384	813	E>Q		No	ClinGen Ensembl
CA3698909 rs766298443	813	E>V		No	ExAC gnomAD ClinGen
CA3698910 rs753444592	815	Q>*		No	ExAC gnomAD ClinGen
rs1221150048 CA363092004 COSM451162	815	Q>H	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	TOPMed ClinGen cosmic curated NCI-TCGA
COSM1077353 rs1379613860 CA363092000	815	Q>R	endometrium [Cosmic]	No	gnomAD ClinGen cosmic curated
rs758908674 CA3698911	816	S>N		No	ClinGen ExAC gnomAD
CA363092023 rs772793321	816	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1194420166 CA363092032	817	V>A		No	TOPMed ClinGen
CA3698913 rs548565370	817	V>I		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs568319942 CA3698915	818	S>R		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs139359232 CA3698914	818	S>T		No	ESP ExAC gnomAD ClinGen
CA3698916 rs751969977	820	I>N		No	ExAC gnomAD ClinGen
rs143181701 CA3698918	821	D>A		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA363092074 rs1254173922 COSM3697731	821	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA3698919 rs745965987	823	D>A		No	ExAC gnomAD ClinGen
CA3698920 rs1343134971	826	D>E		No	TOPMed ClinGen
rs769723562 CA3698922	827	Y>C		No	ExAC gnomAD ClinGen
rs780347494 CA3698923	828	K>R		No	ExAC gnomAD ClinGen
CA3698925 rs368221865	829	R>Q		No	ESP ExAC TOPMed gnomAD ClinGen
CA3698924 rs117624881	829	R>W		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1278927893 CA363092213	831	V>M		No	gnomAD ClinGen
CA3698927 rs760449242	834	A>V		No	ClinGen ExAC gnomAD
TCGA novel	836	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1319850759 CA363092280	837	E>K		No	gnomAD ClinGen
rs1362980168 CA363092309	839	M>V		No	gnomAD ClinGen
CA363092347 rs1437127150	841	S>I		No	gnomAD ClinGen
CA3698928 rs375225504	842	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs372596199 CA136766904	842	R>W		No	ESP TOPMed gnomAD ClinGen
rs759114992 CA3698930	844	R>*		No	ExAC TOPMed gnomAD ClinGen
rs759114992 CA363092373	844	R>G		No	ExAC TOPMed gnomAD ClinGen
rs1190627097 CA363092376	844	R>Q		No	ClinGen TOPMed
rs764600462 CA3698931	845	E>K		No	ClinGen ExAC TOPMed gnomAD
rs752224016 CA3698932	846	E>R		No	ExAC gnomAD ClinGen
rs76018112 CA136766905	846	E>W		No	Ensembl ClinGen

No associated diseases with Q8NE71

7 regional properties for Q8NE71

Type	Name	Position	InterPro Accession
domain	ABC transporter-like, ATP-binding domain	304 - 548	IPR003439-1
domain	ABC transporter-like, ATP-binding domain	625 - 840	IPR003439-2
domain	AAA+ ATPase domain	328 - 532	IPR003593-1
domain	AAA+ ATPase domain	650 - 815	IPR003593-2
conserved_site	ABC transporter-like, conserved site	452 - 466	IPR017871-1
conserved_site	ABC transporter-like, conserved site	743 - 757	IPR017871-2
domain	ABC-transporter extension domain	519 - 594	IPR032781

Functions

		Description
EC Number
Subcellular Localization	[Isoform 2]: Cytoplasm Nucleus, nucleoplasm Nucleus envelope
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nuclear envelope	The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space).
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
polysomal ribosome	A ribosome bound to mRNA that forms part of a polysome.

5 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ribosome binding	Binding to a ribosome.
RNA binding	Binding to an RNA molecule or a portion thereof.
translation activator activity	Any of a group of soluble proteins functioning in the activation of ribosome-mediated translation of mRNA into a polypeptide.
translation factor activity, RNA binding	Functions during translation by binding to RNA during polypeptide synthesis at the ribosome.

4 GO annotations of biological process

Name	Definition
inflammatory response	The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
positive regulation of translation	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.
translation	The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome.
translational initiation	The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P0A9U3	ybiT	Probable ATP-binding protein YbiT	Escherichia coli (strain K12)	PR
P43672	uup	ATP-binding protein Uup	Escherichia coli (strain K12)	PR
Q9NUQ8	ABCF3	ATP-binding cassette sub-family F member 3	Homo sapiens (Human)	PR

10	20	30	40	50	60
MPKAPKQQPP	EPEWIGDGES	TSPSDKVVKK	GKKDKKIKKT	FFEELAVEDK	QAGEEEKVLK
70	80	90	100	110	120
EKEQQQQQQQ	QQQKKKRDTR	KGRRKKDVDD	DGEEKELMER	LKKLSVPTSD	EEDEVPAPKP
130	140	150	160	170	180
RGGKKTKGGN	VFAALIQDQS	EEEEEEEKHP	PKPAKPEKNR	INKAVSEEQQ	PALKGKKGKE
190	200	210	220	230	240
EKSKGKAKPQ	NKFAALDNEE	EDKEEEIIKE	KEPPKQGKEK	AKKAEQGSEE	EGEGEEEEEE
250	260	270	280	290	300
GGESKADDPY	AHLSKKEKKK	LKKQMEYERQ	VASLKAANAA	ENDFSVSQAE	MSSRQAMLEN
310	320	330	340	350	360
ASDIKLEKFS	ISAHGKELFV	NADLYIVAGR	RYGLVGPNGK	GKTTLLKHIA	NRALSIPPNI
370	380	390	400	410	420
DVLLCEQEVV	ADETPAVQAV	LRADTKRLKL	LEEERRLQGQ	LEQGDDTAAE	RLEKVYEELR
430	440	450	460	470	480
ATGAAAAEAK	ARRILAGLGF	DPEMQNRPTQ	KFSGGWRMRV	SLARALFMEP	TLLMLDEPTN
490	500	510	520	530	540
HLDLNAVIWL	NNYLQGWRKT	LLIVSHDQGF	LDDVCTDIIH	LDAQRLHYYR	GNYMTFKKMY
550	560	570	580	590	600
QQKQKELLKQ	YEKQEKKLKE	LKAGGKSTKQ	AEKQTKEALT	RKQQKCRRKN	QDEESQEAPE
610	620	630	640	650	660
LLKRPKEYTV	RFTFPDPPPL	SPPVLGLHGV	TFGYQGQKPL	FKNLDFGIDM	DSRICIVGPN
670	680	690	700	710	720
GVGKSTLLLL	LTGKLTPTHG	EMRKNHRLKI	GFFNQQYAEQ	LRMEETPTEY	LQRGFNLPYQ
730	740	750	760	770	780
DARKCLGRFG	LESHAHTIQI	CKLSGGQKAR	VVFAELACRE	PDVLILDEPT	NNLDIESIDA
790	800	810	820	830	840
LGEAINEYKG	AVIVVSHDAR	LITETNCQLW	VVEEQSVSQI	DGDFEDYKRE	VLEALGEVMV

SRPRE