AiPD: Autoinhibited Protein Database

Q8N6M6

Gene name	AOPEP
Protein name	Aminopeptidase O
Names	AP-O
Species	Homo sapiens (Human)
KEGG Pathway	hsa:84909
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

25-157 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

25-157 (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

1 structures for Q8N6M6

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8N6M6-F1	Predicted				AlphaFoldDB

718 variants for Q8N6M6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_086438	255	R>del	DYT31 [UniProt]	Yes	UniProt
VAR_086439	259	W>del	DYT31 [UniProt]	Yes	UniProt
VAR_086440	493	R>del	DYT31 [UniProt]	Yes	UniProt
CA374335361 rs1315872433	2	D>G		No	ClinGen gnomAD
CA5136434 rs749008300	3	I>L		No	ClinGen ExAC TOPMed gnomAD
CA196663297 rs373154974	3	I>M		No	ClinGen ESP TOPMed gnomAD
rs749008300 CA374335366	3	I>V		No	ClinGen ExAC TOPMed gnomAD
rs200850983 CA5136435	4	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs927597968 CA196663302	6	D>A		No	ClinGen Ensembl
CA374335387 rs1481249579	6	D>E		No	ClinGen TOPMed
rs759094419 CA374335390	7	P>A		No	ClinGen ExAC gnomAD
CA5136437 rs759094419	7	P>T		No	ClinGen ExAC gnomAD
rs766899332 CA5136438	11	D>A		No	ClinGen ExAC gnomAD
rs761238023 CA5136441	15	M>V		No	ClinGen ExAC gnomAD
CA374335451 rs1307335744	16	A>G		No	ClinGen TOPMed
rs148159931 CA374335456	17	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5136442 rs148159931	17	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5136444 rs141638701	18	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs141638701 CA5136443	18	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1180629847 CA374335467	19	S>N		No	ClinGen gnomAD
CA374335472 rs1564080267	20	H>N		No	ClinGen Ensembl
rs1321432921 CA374335481	21	I>V		No	ClinGen TOPMed
CA196663331 rs944914429	22	L>I		No	ClinGen Ensembl
rs1161800602 CA374335501	24	K>T		No	ClinGen TOPMed gnomAD
rs1386692161 CA374335518	26	Y>C		No	ClinGen TOPMed gnomAD
CA374335524 rs1373991263	27	V>I		No	ClinGen TOPMed
CA374335530 rs1456978435	28	L>Q		No	ClinGen gnomAD
CA5136447 rs750543016	29	D>G		No	ClinGen ExAC gnomAD
rs765508797 CA5136446	29	D>N		No	ClinGen ExAC gnomAD
rs1445640522 CA374335544	30	L>F		No	ClinGen gnomAD
CA374335550 rs758534673	31	D>G		No	ClinGen ExAC TOPMed gnomAD
CA5136448 rs758534673	31	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1283553223 CA374335548	31	D>Y		No	ClinGen gnomAD
CA374335563 rs1304650051	33	D>G		No	ClinGen gnomAD
rs1328041549 CA374335579	35	E>G		No	ClinGen gnomAD
rs1439709461 CA374335586	36	S>N		No	ClinGen TOPMed
CA196663346 rs756041528	36	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1264389207 CA374335592	37	Q>*		No	ClinGen gnomAD
CA374335608 rs1208586120	39	I>T		No	ClinGen gnomAD
rs1470762308 CA374335616	40	E>G		No	ClinGen TOPMed
rs759309223 CA196663356	43	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA5136455 rs201706364	43	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1472352254 CA374335647	45	L>H		No	ClinGen gnomAD
CA5136459 rs771658703	47	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs771658703 CA374335658	47	L>I		No	ClinGen ExAC gnomAD
rs761327668 CA5136461	48	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs761327668 CA374335663	48	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1198674076 CA374335674	49	D>G		No	ClinGen gnomAD
rs762271990 CA5136464	52	R>I		No	ClinGen ExAC TOPMed gnomAD
rs765476596 CA5136465	53	F>L		No	ClinGen ExAC gnomAD
CA5136466 rs375897828	54	K>E		No	ClinGen ESP ExAC gnomAD
rs375897828 CA5136467	54	K>Q		No	ClinGen ESP ExAC gnomAD
rs1424779660 CA374335708	54	K>R		No	ClinGen gnomAD
rs1480502437 CA374335751	60	I>V		No	ClinGen TOPMed
CA5136470 rs751625506	63	A>G		No	ClinGen ExAC gnomAD
rs145728442 CA5136471	69	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	71	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1207257944 CA374335831	71	A>V		No	ClinGen TOPMed gnomAD
CA374335855 rs1482949107	74	F>C		No	ClinGen gnomAD
rs777695268 CA5136473	75	G>R		No	ClinGen ExAC gnomAD
CA5136474 rs753739111	76	M>I		No	ClinGen ExAC TOPMed gnomAD
CA374335874 rs1477185309	77	P>L		No	ClinGen gnomAD
rs1588083378 CA374335883	78	E>D		No	ClinGen Ensembl
CA374335890 rs1172062290	79	P>L		No	ClinGen gnomAD
CA5136476 rs757100689	82	I>V		No	ClinGen ExAC gnomAD
CA5136477 rs778548746	83	P>A		No	ClinGen ExAC gnomAD
CA374335914 rs778548746	83	P>S		No	ClinGen ExAC gnomAD
CA5136480 rs370247076	84	V>L		No	ClinGen ESP ExAC gnomAD
CA5136479 rs370247076	84	V>M		No	ClinGen ESP ExAC gnomAD
rs768213104 CA5136482	88	R>G		No	ClinGen ExAC gnomAD
CA5136484 rs762175674	89	T>S		No	ClinGen ExAC gnomAD
TCGA novel	90	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770236134 CA5136485	92	S>F		No	ClinGen ExAC TOPMed gnomAD
CA374335986 rs1231201016	94	M>I		No	ClinGen gnomAD
rs773445752 CA5136486	94	M>V		No	ClinGen ExAC gnomAD
CA374336009 rs1315480651	97	N>S		No	ClinGen TOPMed
CA5136488 rs752252230	98	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1223644434 CA374336023	99	F>S		No	ClinGen gnomAD
CA374336029 rs1403469191	100	A>T		No	ClinGen TOPMed
rs199893579 CA5136490	101	I>M		No	ClinGen ExAC TOPMed gnomAD
rs767539468 CA5136492	102	C>R		No	ClinGen ExAC gnomAD
rs1242736551 CA374336041	102	C>Y		No	ClinGen gnomAD
rs118018100 CA5136493 RCV000948817	103	S>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs118018100 CA374336049	103	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374336055 rs1389449887	104	K>*		No	ClinGen gnomAD
CA5136495 rs144513970	104	K>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1588083798 CA374336075	107	K>E		No	ClinGen Ensembl
CA374336080 rs1157481470	107	K>N		No	ClinGen TOPMed
rs1165228689 CA374336078	107	K>R		No	ClinGen gnomAD
TCGA novel	108	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1588083831 CA374336096	110	S>A		No	ClinGen Ensembl
rs1185832613 CA374336145	116	H>Q		No	ClinGen TOPMed
CA196663461 rs1002737956	116	H>Y		No	ClinGen Ensembl
rs1404321165 CA374336147	117	D>N		No	ClinGen gnomAD
CA374336159 rs1386409503	118	N>S		No	ClinGen TOPMed gnomAD
rs147376186 CA196663464	119	Q>R		No	ClinGen ESP TOPMed
rs202105588 CA5136497	121	H>R		No	ClinGen ExAC gnomAD
rs1327623675 CA374336189	122	A>D		No	ClinGen TOPMed gnomAD
rs1327623675 CA374336191	122	A>G		No	ClinGen TOPMed gnomAD
rs1327623675 CA374336190	122	A>V		No	ClinGen TOPMed gnomAD
CA374336197 rs1432231019	123	S>F		No	ClinGen gnomAD
rs779855707 CA5136498	124	G>E		No	ClinGen ExAC gnomAD
CA196663471 rs371366369	124	G>R		No	ClinGen ESP TOPMed gnomAD
rs748758470 CA5136502	134	T>A		No	ClinGen ExAC gnomAD
rs1311551401 CA374336276	135	G>E		No	ClinGen TOPMed
CA374336274 CA5136504 rs149504659	135	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5136506 rs144158373	136	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA196663496 rs894373986	136	N>S		No	ClinGen Ensembl
rs771248825 CA5136507	137	H>Q		No	ClinGen ExAC gnomAD
rs777933373 CA5136508	140	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	143	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1158976577 CA374336346	145	V>G		No	ClinGen gnomAD
rs1386641619 CA374336350	146	L>S		No	ClinGen gnomAD
CA374336357 rs1166058153	147	D>A		No	ClinGen TOPMed
rs1355288196 CA374336354	147	D>N		No	ClinGen gnomAD
rs1455375952 CA374336373	149	C>Y		No	ClinGen TOPMed gnomAD
CA5136510 rs759734136	150	D>N		No	ClinGen ExAC gnomAD
rs1588084288 CA374336402	153	V>A		No	ClinGen Ensembl
TCGA novel	153	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1336746094 CA374336411	155	K>Q		No	ClinGen gnomAD
CA5136513 rs761864282	156	V>I		No	ClinGen ExAC gnomAD
rs765095411 CA5136514	157	E>K		No	ClinGen ExAC gnomAD
rs1430530180 CA374336431	158	E>K		No	ClinGen TOPMed
CA5136515 rs750308013	159	V>G		No	ClinGen ExAC gnomAD
CA196663513 rs1054138771	161	V>I		No	ClinGen TOPMed
CA5136516 rs758157613	163	A>S		No	ClinGen ExAC TOPMed gnomAD
rs533367834 CA5136517	165	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA374336496 rs1186028013	168	E>D		No	ClinGen TOPMed
rs1461849971 CA374336492	168	E>Q		No	ClinGen gnomAD
TCGA novel	169	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1489487010 CA374336538	174	P>L		No	ClinGen gnomAD
rs1490548305 CA374336557	177	T>M		No	ClinGen TOPMed
rs1191903547 CA374336559	178	V>I		No	ClinGen gnomAD
CA5136519 VAR_057053 VAR_021511 rs16911679	179	V>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_057053 rs16911679	179	V>I		No	UniProt dbSNP
rs1564082617 CA374336571	180	S>P		No	ClinGen Ensembl
rs1441806451 CA374336600	184	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA374336605 rs1356933195	184	R>S		No	ClinGen TOPMed
rs146560738 CA5136520	189	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5136521 rs747625403	189	R>H		No	ClinGen ExAC TOPMed gnomAD
rs541884324 CA196663542	190	E>G		No	ClinGen TOPMed gnomAD
CA374336656 rs1293053234	192	V>G		No	ClinGen TOPMed
CA374336660 rs1157964878	193	T>A		No	ClinGen gnomAD
CA5136523 rs755584305	193	T>I		No	ClinGen ExAC TOPMed gnomAD
CA374336674 rs1429322177	195	P>H		No	ClinGen gnomAD
rs1429322177 CA374336676	195	P>L		No	ClinGen gnomAD
rs1305473084 CA374336682	196	A>V		No	ClinGen TOPMed
rs201038064 CA5136524	197	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1457423669 CA374336689	197	N>K		No	ClinGen gnomAD
rs368250201 CA5136525	198	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5136526 rs370911982	198	R>H		No	ClinGen ESP ExAC gnomAD
rs1329899346 CA374336710	201	E>K		No	ClinGen gnomAD
CA196663571 rs1006601161	204	D>N		No	ClinGen TOPMed
rs1463680603 CA374336744	205	Y>C		No	ClinGen TOPMed
rs768081427 CA5136530	206	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA5136533 rs76131437 CA5136532	206	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1235470731 CA374336756	207	A>T		No	ClinGen gnomAD
CA5136534 rs773044361	207	A>V		No	ClinGen ExAC TOPMed gnomAD
rs762960838 CA5136536	208	R>C		No	ClinGen ExAC TOPMed gnomAD
rs762960838 CA5136535	208	R>G		No	ClinGen ExAC TOPMed gnomAD
rs976191132 CA196663585	208	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA374336761 rs976191132	208	R>L		No	ClinGen TOPMed gnomAD
CA196663588 rs1030493256	209	C>G		No	ClinGen TOPMed gnomAD
rs1481964378 CA374336774	210	S>I		No	ClinGen gnomAD
CA5136538 rs754763664	212	A>T		No	ClinGen ExAC TOPMed gnomAD
rs922121046 CA196663603	212	A>V		No	ClinGen TOPMed gnomAD
rs1173332784 CA374336790	213	P>A		No	ClinGen gnomAD
rs1376593567 CA374336793	213	P>R		No	ClinGen gnomAD
rs1465923257 CA374336799	214	G>A		No	ClinGen gnomAD
rs368705058 CA374336805	215	C>F		No	ClinGen ESP TOPMed gnomAD
rs368705058 CA196663606	215	C>Y		No	ClinGen ESP TOPMed gnomAD
CA5136540 rs202175159	217	E>*		No	ClinGen 1000Genomes ExAC gnomAD
CA374336822 rs1346379307	218	L>F		No	ClinGen gnomAD
CA5136543 rs749803059	219	L>F		No	ClinGen ExAC gnomAD
CA5136544 rs749803059	219	L>V		No	ClinGen ExAC gnomAD
CA374336833 rs1330600826	220	F>L		No	ClinGen gnomAD
rs746240882 CA5136546	221	D>H		No	ClinGen ExAC gnomAD
rs141234450 CA5136547	224	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA196663632 rs910947056	224	T>I		No	ClinGen TOPMed gnomAD
CA5136548 rs775605570	226	S>N		No	ClinGen ExAC TOPMed gnomAD
CA374336893 rs1588085184	228	Q>H		No	ClinGen Ensembl
CA5136549 rs140563732	229	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374336921 rs1564083469	232	T>I		No	ClinGen Ensembl
CA196663636 rs772103194	233	G>E		No	ClinGen TOPMed
rs1189107863 CA374336922	233	G>R		No	ClinGen TOPMed gnomAD
CA5136552 rs776739942	235	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1428614540 CA374336944	236	T>K		No	ClinGen gnomAD
CA374336947 rs1189992346	237	A>T		No	ClinGen gnomAD
CA196663642 rs1045653216	238	T>A		No	ClinGen TOPMed
rs763043975 CA5136553	238	T>I		No	ClinGen ExAC gnomAD
CA374336963 rs1168338339	239	D>E		No	ClinGen gnomAD
CA5136554 rs369861586	239	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA374336965 rs1350847805	240	F>L		No	ClinGen TOPMed gnomAD
CA374336966 rs1350847805	240	F>V		No	ClinGen TOPMed gnomAD
CA5136555 rs774364750	242	H>R		No	ClinGen ExAC gnomAD
rs747138673 CA5136556	243	A>S		No	ClinGen ExAC gnomAD
CA196663654 rs747138673	243	A>T		No	ClinGen ExAC gnomAD
CA5136557 rs767297321	243	A>V		No	ClinGen ExAC gnomAD
rs752346164 CA5136558	244	I>V		No	ClinGen ExAC TOPMed gnomAD
CA374336995 rs1287753575	245	R>G		No	ClinGen gnomAD
CA5136559 rs375606396	248	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769632059 CA5136560	250	T>A		No	ClinGen ExAC gnomAD
CA5136561 rs371873852	252	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA374337056 rs756695675	253	E>D		No	ClinGen ExAC gnomAD
CA196663685 rs1055598699	254	G>R		No	ClinGen Ensembl
CA5136563 rs779393035	255	R>*		No	ClinGen ExAC TOPMed gnomAD
CA374337064 rs16911681	255	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_057054 rs16911681 CA5136564	255	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs145414026 CA5136565	256	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1425947455 CA374337078	258	T>A		No	ClinGen gnomAD
CA196663695 rs1043405296	259	W>*		No	ClinGen TOPMed
CA5136567 rs747234731	260	T>A		No	ClinGen ExAC gnomAD
CA374337100 rs1322571292	261	S>*		No	ClinGen gnomAD
CA374337101 rs1322571292	261	S>L		No	ClinGen gnomAD
rs1386555387 CA374337108	262	D>E		No	ClinGen gnomAD
CA374337116 rs1303383934	263	Q>H		No	ClinGen gnomAD
CA374337114 rs1434234453	263	Q>R		No	ClinGen gnomAD
rs781216214 CA5136569	264	S>R		No	ClinGen ExAC gnomAD
CA5136594 rs772036647	270	Y>C		No	ClinGen ExAC gnomAD
CA374337198 rs1364921942	271	T>A		No	ClinGen gnomAD
CA374337203 rs775230810	272	V>L		No	ClinGen ExAC gnomAD
rs775230810 CA5136595	272	V>M		No	ClinGen ExAC gnomAD
rs1343553716 CA374337217	274	S>P		No	ClinGen gnomAD
CA5136596 rs760521208	275	P>S		No	ClinGen ExAC gnomAD
rs776284232 CA5136598	276	I>M		No	ClinGen ExAC gnomAD
CA196667094 rs374006392	277	N>K		No	ClinGen ESP TOPMed
CA5136599 rs376925629	278	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1044289951 CA196667100	279	R>G		No	ClinGen gnomAD
TCGA novel	279	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374337250 rs1240098195	279	R>S		No	ClinGen gnomAD
TCGA novel	280	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374337258 rs1165960212	281	L>F		No	ClinGen TOPMed
rs1190734138 CA374337283	284	C>F		No	ClinGen gnomAD
CA374337309 rs1463031725	288	P>A		No	ClinGen TOPMed
rs1451318724 CA374337313	288	P>L		No	ClinGen gnomAD
rs1451318724 CA374337312	288	P>R		No	ClinGen gnomAD
CA196667115 rs1000228613	289	V>I		No	ClinGen gnomAD
rs1405553118 CA374337328	291	M>T		No	ClinGen gnomAD
rs762312649 CA5136603 COSM1625269 COSM1625270	291	M>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	292	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA196667125 rs901540960	294	W>*		No	ClinGen TOPMed gnomAD
rs766915193 CA5136604	294	W>C		No	ClinGen ExAC gnomAD
CA196667122 rs1030656700 CA374337346	294	W>R		No	ClinGen gnomAD
rs751970404 CA5136605	295	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA5136607 rs142759725	298	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5136606 rs142759725	298	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5136609 rs201770998	299	R>*	Variant assessed as Somatic; 0.000231 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5136608 rs201770998	299	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5136610 rs778059579	299	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5136611 rs778059579	299	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5136613 rs151071633	304	F>L		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA196667151 rs984607151	304	F>S		No	ClinGen Ensembl
rs1210608196 CA374337430	308	M>I		No	ClinGen gnomAD
CA374337434 rs1292264593	309	S>G		No	ClinGen gnomAD
CA5136615 rs780068425	310	G>E		No	ClinGen ExAC gnomAD
rs1016545118 CA196667156	311	E>V		No	ClinGen TOPMed
CA374337457 rs1248738390	312	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA196667161 rs1029308444	313	S>A		No	ClinGen TOPMed gnomAD
rs768544494 CA5136617	313	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1029308444 CA374337461	313	S>T		No	ClinGen TOPMed gnomAD
TCGA novel	313	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1364950518 CA374337472	315	K>E		No	ClinGen TOPMed
rs1389269905 CA374337486	317	T>A		No	ClinGen gnomAD
CA5136618 rs375653723	317	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs769421153 CA5136620	321	E>K		No	ClinGen ExAC gnomAD
rs867667078 CA5136621	322	E>K		No	ClinGen Ensembl
rs1376736342 CA374337546	323	C>G		No	ClinGen TOPMed
CA374337556 rs1159162801	324	S>*		No	ClinGen TOPMed
rs1157824302 CA374337553	324	S>P		No	ClinGen gnomAD
TCGA novel	325	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748872010 CA5136641	325	S>R		No	ClinGen ExAC TOPMed gnomAD
rs770518043 CA5136642	326	W>*		No	ClinGen ExAC gnomAD
CA374337572 rs770518043	326	W>C		No	ClinGen ExAC gnomAD
CA5136644 rs200839081	329	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773731901 CA5136643	329	Y>N		No	ClinGen ExAC gnomAD
rs776069948 CA5136646	332	M>V		No	ClinGen ExAC gnomAD
CA5136648 rs776783308	334	M>L		No	ClinGen ExAC gnomAD
rs776783308 CA196678859	334	M>V		No	ClinGen ExAC gnomAD
rs754135524 CA5136649	337	S>F		No	ClinGen ExAC gnomAD
rs765422487 CA5136651	341	I>M		No	ClinGen ExAC gnomAD
CA5136650 rs761909491	341	I>T		No	ClinGen ExAC gnomAD
CA374337673 rs1276190707	342	A>E		No	ClinGen gnomAD
CA196678872 rs1043606052	343	V>L		No	ClinGen TOPMed gnomAD
COSM609731 COSM609730 rs200376547 CA5136654	346	W>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs758414518 CA5136653	346	W>R		No	ClinGen ExAC TOPMed gnomAD
rs752582415 CA374337706	347	T>I		No	ClinGen ExAC gnomAD
rs752582415 CA5136655	347	T>K		No	ClinGen ExAC gnomAD
CA5136657 rs777400316	349	M>V		No	ClinGen ExAC gnomAD
rs749038852 CA5136658	350	K>E		No	ClinGen ExAC gnomAD
CA5136659 rs770478798	351	M>L		No	ClinGen ExAC gnomAD
TCGA novel	352	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778574044 CA5136660	352	E>G		No	ClinGen ExAC gnomAD
rs375062289 CA196678920	353	T>I		No	ClinGen ESP TOPMed gnomAD
rs745378977 CA5136661	353	T>S		No	ClinGen ExAC gnomAD
rs202221732 CA5136663	354	W>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202221732 CA374337755	354	W>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs541335027 CA5136664	355	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs769179422 CA5136665	356	S>L		No	ClinGen ExAC TOPMed gnomAD
rs369263282 CA196678947	357	N>D		No	ClinGen ESP TOPMed gnomAD
rs1272976949 CA374337771	357	N>I		No	ClinGen gnomAD
CA196678968 rs201193216	365	F>L		No	ClinGen gnomAD
CA374337837 rs1276581072	367	P>L		No	ClinGen gnomAD
CA196678970 rs370746937	367	P>T		No	ClinGen ESP
TCGA novel	368	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5136668 rs765391559	371	N>D		No	ClinGen ExAC TOPMed gnomAD
CA374337864 rs1564144513	371	N>I		No	ClinGen Ensembl
CA374337896 rs1302072892	374	H>Y		No	ClinGen gnomAD
CA374337902 rs1393874476	375	V>I		No	ClinGen gnomAD
CA196684635 rs377063198	376	G>D		No	ClinGen TOPMed gnomAD
rs377063198 CA196684641	376	G>V		No	ClinGen TOPMed gnomAD
rs763133442 CA5136697	378	C>Y		No	ClinGen ExAC gnomAD
rs766513557 CA5136698	381	M>V		No	ClinGen ExAC gnomAD
rs774404670 CA5136699	383	Y>S		No	ClinGen ExAC gnomAD
VAR_057055 rs34557833 CA5136702	386	R>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1210104283 CA374337980	386	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs906064925 CA196684711	388	Q>P		No	ClinGen TOPMed
rs1164475685 CA374337999	389	N>D		No	ClinGen TOPMed
rs757021584 CA5136703	392	A>D		No	ClinGen ExAC gnomAD
CA5136705 rs750137877	394	T>I		No	ClinGen ExAC gnomAD
CA5136706 rs758116117	395	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA196684766 rs1001953058	397	I>F		No	ClinGen TOPMed gnomAD
CA374338057 rs1457808127	398	I>V		No	ClinGen gnomAD
rs746529939 CA5136708	399	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1020269151 CA196684772	400	H>Y		No	ClinGen Ensembl
COSM3699832 rs1027115168 CA196684793 COSM3699833	401	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs754444042 CA5136709	401	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1303149313 CA374338096	404	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	405	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1412481698 CA374338106	406	V>L		No	ClinGen gnomAD
CA374338122 rs1350767504	408	L>P		No	ClinGen gnomAD
rs147998277 CA5136713	409	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	410	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374338132 rs1174903382	410	G>D		No	ClinGen Ensembl
rs375204570 CA5136717	411	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA374338145 rs1256906319	412	C>S		No	ClinGen TOPMed gnomAD
CA374338143 rs1256906319	412	C>Y		No	ClinGen TOPMed gnomAD
CA374338148 rs745518046	413	Q>E		No	ClinGen TOPMed gnomAD
CA196684834 rs745518046	413	Q>K		No	ClinGen TOPMed gnomAD
TCGA novel	414	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374338164 rs1320866056	415	T>A		No	ClinGen TOPMed
CA5136719 rs767581319	416	L>F		No	ClinGen ExAC TOPMed
CA374338173 rs1257070119	416	L>R		No	ClinGen gnomAD
rs1184361810 CA374338177	417	L>P		No	ClinGen gnomAD
rs199672741 CA5136722	418	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5136721 rs141739552	418	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1018815183 CA196684849	420	I>M		No	ClinGen Ensembl
rs1261008104 CA374338188	420	I>V		No	ClinGen gnomAD
CA5136723 rs765005389	422	P>L		No	ClinGen ExAC TOPMed gnomAD
rs530543016 CA196684887	426	A>G		No	ClinGen 1000Genomes
rs750227975 CA5136724	426	A>T		No	ClinGen ExAC gnomAD
rs965249241 COSM382587 COSM382588 CA196684916	428	H>R	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs758208013 CA5136727	429	S>P		No	ClinGen ExAC gnomAD
rs766134477 CA5136728	430	V>I		No	ClinGen ExAC gnomAD
rs1302549084 CA374338254	431	L>P		No	ClinGen gnomAD
rs780721890 CA5136731	435	P>L		No	ClinGen ExAC TOPMed gnomAD
CA196684936 rs780721890	435	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA5136733 rs150549875	436	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5136735 rs749660820	438	R>Q		No	ClinGen ExAC gnomAD
COSM3764080 rs369261332 CA5136734 COSM3764081	438	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs199629719 CA5136736	440	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA196684991 rs777304173	443	I>M		No	ClinGen ExAC gnomAD
CA5136738 rs746076600	444	V>I		No	ClinGen ExAC TOPMed gnomAD
CA374338333 rs1452570313	445	P>S		No	ClinGen gnomAD
rs775633467 CA5136740	450	S>G		No	ClinGen ExAC TOPMed gnomAD
rs138585926 CA5136741	450	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs775633467 CA374338366	450	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1294833077 CA374338387	453	M>I		No	ClinGen gnomAD
CA196685056 rs867945673	453	M>L		No	ClinGen Ensembl
rs762870994 CA5136744	454	A>S		No	ClinGen ExAC TOPMed gnomAD
rs762870994 CA374338390	454	A>T		No	ClinGen ExAC TOPMed gnomAD
rs766227590 CA5136745	455	S>G		No	ClinGen ExAC TOPMed gnomAD
CA5136746 rs751210963	455	S>N		No	ClinGen ExAC gnomAD
CA196791983 rs1019081815	457	H>P		No	ClinGen TOPMed
CA374338975 rs1380580571	461	L>F		No	ClinGen gnomAD
rs903800420 CA196791986	463	Q>R		No	ClinGen TOPMed
rs1210364092 CA374339009	466	L>*		No	ClinGen TOPMed
CA374339007 rs1260907565	466	L>M		No	ClinGen TOPMed
CA196791988 rs756043940	467	T>I		No	ClinGen TOPMed gnomAD
rs998276693 CA196792008	469	G>E		No	ClinGen TOPMed
CA5136772 rs575733167	469	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA196792012 rs1030130148	470	N>K		No	ClinGen Ensembl
CA5136773 rs765645057	470	N>T		No	ClinGen ExAC gnomAD
rs750811205 CA5136774	471	H>R		No	ClinGen ExAC gnomAD
rs1442762890 CA374339038	471	H>Y		No	ClinGen gnomAD
CA374339050 rs1433270184	473	C>R		No	ClinGen TOPMed
rs758621487 CA5136775	473	C>W		No	ClinGen ExAC gnomAD
CA5136776 rs200245066	475	T>P		No	ClinGen ExAC
COSM145186 CA196792035 rs986056013	476	R>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs10993400 CA5136778	476	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA196792057 rs866873600	477	L>I		No	ClinGen Ensembl
rs953920598 CA196792060	478	C>F		No	ClinGen TOPMed gnomAD
CA374339085 rs1564387944	479	H>N		No	ClinGen Ensembl
CA196792061 rs962964527	481	I>M		No	ClinGen Ensembl
CA374339105 rs1400430416	482	A>S		No	ClinGen gnomAD
CA374339113 rs1471420066	483	H>Y		No	ClinGen TOPMed gnomAD
CA374339121 rs1323353391	484	A>S		No	ClinGen TOPMed
CA374339166 rs1423831491	488	L>P		No	ClinGen TOPMed
CA374339184 rs1169313798	490	I>V		No	ClinGen TOPMed
rs749296411 CA5136781	491	G>E		No	ClinGen ExAC gnomAD
CA5136780 rs564817975	491	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1315255598 CA374339212	492	A>T		No	ClinGen gnomAD
rs577000059 CA196792089	493	R>*		No	ClinGen 1000Genomes TOPMed gnomAD
CA196792090 rs777211502	493	R>Q		No	ClinGen TOPMed gnomAD
rs748848448 CA5136783	496	T>M		No	ClinGen ExAC TOPMed gnomAD
rs748848448 CA5136782	496	T>R		No	ClinGen ExAC TOPMed gnomAD
CA374339284 rs1258911398	497	E>G		No	ClinGen TOPMed
CA374339318 rs1216558396	499	W>*		No	ClinGen TOPMed
CA374339349 rs1588908471	501	S>G		No	ClinGen Ensembl
rs1270046231 CA374339351	501	S>N		No	ClinGen TOPMed
rs1588908502 CA374339361	501	S>R		No	ClinGen Ensembl
rs745709222 CA5136784	503	G>A		No	ClinGen ExAC TOPMed gnomAD
rs745709222 CA374339390	503	G>V		No	ClinGen ExAC TOPMed gnomAD
rs960335746 CA196792156	505	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA196792157 rs761700597	505	A>V		No	ClinGen gnomAD
CA196792159 rs867491781	506	T>I		No	ClinGen Ensembl
rs991889188 CA196792173	507	H>D		No	ClinGen TOPMed gnomAD
CA196792181 rs917140915	508	L>M		No	ClinGen TOPMed
rs143583642 CA5136785	511	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374339542 rs1172985370	513	W>L		No	ClinGen TOPMed
rs1251990737 CA374339549	514	A>D		No	ClinGen TOPMed gnomAD
rs1251990737 CA374339551	514	A>V		No	ClinGen TOPMed gnomAD
rs1393142202 CA374339553	515	T>A		No	ClinGen TOPMed
rs916340320 CA196792187	517	Q>*		No	ClinGen gnomAD
rs1435544600 CA374339570	517	Q>H		No	ClinGen gnomAD
CA374339571 rs1192968511	518	Q>*		No	ClinGen TOPMed
CA374339691 rs1453724401	520	A>D		No	ClinGen TOPMed
rs1300936592 CA374339688	520	A>S		No	ClinGen TOPMed gnomAD
rs1300936592 CA374339685	520	A>T		No	ClinGen TOPMed gnomAD
rs1056026703 CA196795721	522	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA374339710 rs1056026703	522	Y>S		No	ClinGen TOPMed gnomAD
rs894162990 CA196795722	523	E>K		No	ClinGen TOPMed gnomAD
CA374339737 rs1194678661	524	A>S		No	ClinGen gnomAD
rs1042730198 CA196795739	525	R>Q		No	ClinGen TOPMed gnomAD
rs923686212 CA196795729	525	R>W		No	ClinGen TOPMed gnomAD
CA374339798 rs1251730244	529	E>*		No	ClinGen TOPMed gnomAD
CA374339795 rs1251730244	529	E>K		No	ClinGen TOPMed gnomAD
CA374339801 rs1454080480	529	E>V		No	ClinGen TOPMed gnomAD
CA374339824 rs1449025554	532	A>V		No	ClinGen gnomAD
CA196795750 rs751025719	533	C>Y		No	ClinGen Ensembl
CA196795756 COSM4139697 rs999008130	535	R>C	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA5136791 rs765776872	535	R>H		No	ClinGen ExAC gnomAD
CA374339849 rs1167342209	536	W>C		No	ClinGen gnomAD
CA196795758 rs1019446111	537	R>C		No	ClinGen TOPMed gnomAD
rs41281176 CA196795765	537	R>H		No	ClinGen TOPMed gnomAD
rs41281176 CA374339853	537	R>L		No	ClinGen TOPMed gnomAD
CA374339850 rs1019446111	537	R>S		No	ClinGen TOPMed gnomAD
CA196795783 rs896182260	538	R>C		No	ClinGen TOPMed gnomAD
CA374339857 rs1348609446	538	R>H		No	ClinGen TOPMed
rs1370208690 CA374339861	539	L>F		No	ClinGen gnomAD
CA374339880 rs549129630	541	D>E		No	ClinGen TOPMed gnomAD
rs1435538530 CA374339876	541	D>G		No	ClinGen TOPMed gnomAD
rs1297475049 CA374339881	542	E>K		No	ClinGen gnomAD
CA374339894 rs1226276977	543	M>I		No	ClinGen gnomAD
CA196795790 rs1028221753	543	M>K		No	ClinGen TOPMed gnomAD
CA374339899 rs1452344180	544	Q>*		No	ClinGen TOPMed
rs1336266374 CA374339907	545	C>R		No	ClinGen TOPMed gnomAD
rs1320834354 CA374339917	546	S>C		No	ClinGen TOPMed
rs1321410809 CA374339919	547	P>S		No	ClinGen TOPMed gnomAD
rs1321410809 CA374339921	547	P>T		No	ClinGen TOPMed gnomAD
rs147369569 CA5136794	548	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs898416175 CA196795821	548	E>K		No	ClinGen TOPMed gnomAD
CA374339944 rs1382984702	550	M>I		No	ClinGen TOPMed
CA196795828 rs756437433	550	M>T		No	ClinGen gnomAD
CA374339955 rs1182644647	552	V>M		No	ClinGen TOPMed
CA5136807 rs761342432	555	P>L		No	ClinGen ExAC gnomAD
CA196820097 rs953082199	556	S>G		No	ClinGen TOPMed
CA374340714 rs1319868727	556	S>N		No	ClinGen gnomAD
rs763337511 CA5136810	558	D>G		No	ClinGen ExAC TOPMed
rs766825109 CA5136811	559	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1032456406 CA196820131	561	G>D		No	ClinGen gnomAD
rs1396697242 CA374340812	563	T>A		No	ClinGen TOPMed gnomAD
rs1396697242 CA374340811	563	T>P		No	ClinGen TOPMed gnomAD
CA374340826 rs1444699855	564	S>T		No	ClinGen TOPMed
CA5136812 rs141891246	566	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767885743 CA5136814	567	G>V		No	ClinGen ExAC gnomAD
rs113762582 CA196820174	568	A>V		No	ClinGen Ensembl
rs752922095 CA5136815	570	V>I		No	ClinGen ExAC gnomAD
CA5136816 rs764693251	571	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1199432174 CA374340904	571	I>V		No	ClinGen TOPMed
CA5136817 rs146266999	573	H>N		No	ClinGen ESP ExAC gnomAD
CA5136818 rs115444170	573	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5136820 rs779905978	574	G>E		No	ClinGen ExAC gnomAD
CA5136819 rs758251437	574	G>R		No	ClinGen ExAC gnomAD
rs746809060 CA5136821	576	N>K		No	ClinGen ExAC gnomAD
CA5136822 rs143555020	577	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1231251323 CA374340955	578	E>G		No	ClinGen gnomAD
rs780844598 CA5136823	578	E>K		No	ClinGen ExAC gnomAD
rs913767520 CA196820250	579	K>R		No	ClinGen TOPMed gnomAD
rs1194211065 CA374341005	582	M>L		No	ClinGen gnomAD
rs747775588 CA5136825	583	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs111368828 CA196820282	584	V>A		No	ClinGen TOPMed gnomAD
CA196820278 rs111368828	584	V>E		No	ClinGen TOPMed gnomAD
TCGA novel	588	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374341167 rs1380587234	589	G>A		No	ClinGen TOPMed
CA196820712 rs191295758	589	G>S		No	ClinGen 1000Genomes TOPMed
CA5136840 rs200660380	593	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5136842 COSM1111375 COSM1111376 rs377617795	594	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA5136841 COSM198932 rs146337789 COSM198933	594	R>W	liver large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA5136843 rs563124736	596	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5136844 rs754818005	597	A>D		No	ClinGen ExAC gnomAD
CA374341262 rs754818005	597	A>V		No	ClinGen ExAC gnomAD
rs1448485671 CA374341271	598	K>R		No	ClinGen gnomAD
rs969813227 CA196820722	599	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA374341290 rs1421205905	601	G>R		No	ClinGen TOPMed
rs148523926 CA5136845	604	T>I		No	ClinGen ESP ExAC gnomAD
rs747901675 CA5136846 CA374341323	605	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA374341321 rs1423810952	605	Y>C		No	ClinGen TOPMed gnomAD
rs142926648 CA5136848	608	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	611	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748778079 CA5136849	611	K>E		No	ClinGen ExAC gnomAD
TCGA novel	611	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1484735364 CA374341367	612	F>L		No	ClinGen TOPMed
rs1033506158 CA196820731	614	H>R		No	ClinGen TOPMed gnomAD
rs770424016 CA5136850	614	H>Y		No	ClinGen ExAC
rs146376377 CA5136851	615	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374341386 rs1217428604	615	T>P		No	ClinGen TOPMed
rs989167402 CA196820732	616	F>Y		No	ClinGen TOPMed
rs368648649 CA196820734	617	H>D		No	ClinGen ESP TOPMed gnomAD
CA196820737 rs913133416	619	Q>*		No	ClinGen Ensembl
rs760086258 CA374341416	619	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1380466249 CA374341425	621	I>V		No	ClinGen gnomAD
TCGA novel	622	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374341441 rs1314786081	623	S>C		No	ClinGen gnomAD
rs1298352904 CA374341447	624	Q>R		No	ClinGen TOPMed
TCGA novel	625	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1589114927 CA374338454	629	M>V		No	ClinGen Ensembl
CA374338468 rs1454089780	631	L>V		No	ClinGen Ensembl
CA5136868 rs528813757	632	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs746430262 CA5136869	633	N>S		No	ClinGen ExAC gnomAD
rs772724315 CA5136870	635	P>S		No	ClinGen ExAC
rs1554787757 CA5136872	637	E>*		No	ClinGen Ensembl
CA5136874 rs747367681	638	K>E		No	ClinGen ExAC gnomAD
CA374338519 rs1195811754	638	K>N		No	ClinGen gnomAD
rs755909550 CA5136885	639	R>S		No	ClinGen ExAC gnomAD
CA5136886 rs763916359	640	L>F		No	ClinGen ExAC gnomAD
CA374339595 rs1195816736	640	L>P		No	ClinGen gnomAD
rs753497340 CA5136887	641	E>A		No	ClinGen ExAC gnomAD
CA196833847 rs1044601351	644	V>F		No	ClinGen TOPMed gnomAD
TCGA novel	645	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5136888 rs141039188	647	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA374339647 rs1395057736	648	Y>*		No	ClinGen TOPMed gnomAD
CA5136890 rs745379024	648	Y>C		No	ClinGen ExAC gnomAD
CA5136889 rs778654395	648	Y>H		No	ClinGen ExAC gnomAD
rs757944488 CA5136891	649	Q>*		No	ClinGen ExAC gnomAD
CA374339660 rs1398860014	650	D>G		No	ClinGen TOPMed
rs1389776693 CA374339686	652	L>F		No	ClinGen gnomAD
CA5136892 rs75234475	653	E>*		No	ClinGen 1000Genomes ExAC gnomAD
CA5136893 rs75234475	653	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA374339704 rs1297267560	653	E>V		No	ClinGen gnomAD
rs1293378787 CA374339744	656	G>A		No	ClinGen gnomAD
rs1293378787 CA374339743	656	G>E		No	ClinGen gnomAD
rs144960999 CA5136895	656	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs200397586 CA196833886	658	P>Q		No	ClinGen Ensembl
CA374340663 rs866044160	660	P>L		No	ClinGen TOPMed gnomAD
CA196843715 rs866044160	660	P>Q		No	ClinGen TOPMed gnomAD
rs866044160 CA374340662	660	P>R		No	ClinGen TOPMed gnomAD
rs868613226 CA196843710	660	P>S		No	ClinGen Ensembl
rs1268153093 CA374340675	662	Q>H		No	ClinGen TOPMed gnomAD
rs1475274569 CA374340704	664	E>D		No	ClinGen gnomAD
rs867809014 CA196843728	664	E>K		No	ClinGen Ensembl
CA5136942 rs200844547	665	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554800401 CA374340711	665	R>L		No	ClinGen Ensembl
CA5136943 rs773129789	668	G>R		No	ClinGen ExAC gnomAD
CA374340753 rs1345944414	669	A>E		No	ClinGen gnomAD
CA374340751 rs762598032	669	A>S		No	ClinGen ExAC TOPMed gnomAD
rs762598032 CA5136944	669	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5136945 rs766060185	670	E>K		No	ClinGen ExAC gnomAD
rs773825659 CA5136946	671	C>W		No	ClinGen ExAC gnomAD
CA374340795 rs1263956569	673	L>F		No	ClinGen TOPMed
rs759135311 CA5136947	674	A>V		No	ClinGen ExAC TOPMed gnomAD
CA196843771 rs1006045207	678	R>P		No	ClinGen TOPMed
rs764525324 CA5136951	679	A>G		No	ClinGen ExAC gnomAD
rs192735443 CA5136952	680	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757519991 CA5136953	680	E>D		No	ClinGen ExAC gnomAD
rs1354237304 CA374340883	680	E>K		No	ClinGen gnomAD
rs1174338507 CA374340964	682	T>A		No	ClinGen gnomAD
rs1290751218 CA374340968	682	T>K		No	ClinGen TOPMed gnomAD
rs1290751218 CA374340972	682	T>M		No	ClinGen TOPMed gnomAD
rs141150121 CA196844184	684	W>*		No	ClinGen ESP
rs1334060712 CA374341011	685	I>F		No	ClinGen TOPMed
rs1488462469 CA374341016	685	I>T		No	ClinGen gnomAD
CA5136973 rs758536335	687	V>L		No	ClinGen ExAC gnomAD
CA374341060 rs747090248	688	N>K		No	ClinGen ExAC TOPMed gnomAD
CA374341053 rs1444234608	688	N>S		No	ClinGen gnomAD
CA374341067 rs1332086942	689	R>P		No	ClinGen TOPMed
rs755069577 CA5136976	689	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1272769632 CA374341096	691	P>L		No	ClinGen gnomAD
rs1343635906 CA374341100	692	R>G		No	ClinGen gnomAD
CA374341108 rs1589237095	692	R>P		No	ClinGen Ensembl
TCGA novel	695	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374341132 rs1386773378	695	K>N		No	ClinGen gnomAD
CA374341135 rs1195944356	696	R>C		No	ClinGen gnomAD
CA374341137 rs61739340	696	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5136978 rs61739340	696	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770824551 CA5136979	698	E>K		No	ClinGen ExAC
CA5136980 rs778557289	699	K>E		No	ClinGen ExAC gnomAD
TCGA novel	701	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM422306 rs1171949519 COSM422307 CA374341189	701	E>Q	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA374341216 rs1589237203	702	V>G		No	ClinGen Ensembl
rs1201234197 CA374341223	703	F>V		No	ClinGen gnomAD
CA5136983 rs771714757	704	E>K		No	ClinGen ExAC
CA374341261 rs1171493980	705	K>N		No	ClinGen TOPMed gnomAD
rs1264870538 CA374103612	706	L>R		No	ClinGen gnomAD
CA374103619 rs1330858766	708	P>T		No	ClinGen TOPMed
rs1411266410 CA374103626	709	D>H		No	ClinGen TOPMed
CA5137021 rs756177192	709	D>V		No	ClinGen ExAC gnomAD
CA374103632 rs1191380627	710	Q>K		No	ClinGen gnomAD
CA374103650 rs1587851168	712	V>G		No	ClinGen Ensembl
TCGA novel	712	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5137023 rs750335512	713	L>W		No	ClinGen ExAC gnomAD
rs187186964 CA5137024	714	L>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1429122830 CA374103666	715	L>Q		No	ClinGen gnomAD
rs1307029241 CA374103663	715	L>V		No	ClinGen TOPMed
CA374103683 rs764017866	718	L>F		No	ClinGen TOPMed gnomAD
CA196547111 rs764017866	718	L>V		No	ClinGen TOPMed gnomAD
rs1587851279 CA374103699	720	E>G		No	ClinGen Ensembl
CA5137026 rs536568888	722	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs191644902 CA5137027	723	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs975469844 CA196547137	724	L>V		No	ClinGen TOPMed gnomAD
CA5137028 rs118115230	725	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747643520 CA374103732	725	S>R		No	ClinGen ExAC TOPMed
rs1587851409 CA374103736	726	P>S		No	ClinGen Ensembl
CA5137030 rs184719129	727	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs184719129 CA5137031	727	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1111380 rs963224133 CA196547174 COSM1111379	727	R>Q	large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1457152297 CA374103743	728	T>A		No	ClinGen gnomAD
CA5137033 rs771479023	734	R>S		No	ClinGen ExAC gnomAD
CA5137034 rs774867745	735	T>R		No	ClinGen ExAC gnomAD
CA589258886 rs1263305095	736	Y>*		No	ClinGen gnomAD
CA5137036 rs767661592	738	L>V		No	ClinGen ExAC gnomAD
rs764205776 CA5137039	740	D>N		No	ClinGen ExAC gnomAD
CA374103834 rs1165933228	741	Q>R		No	ClinGen gnomAD
rs750429635 CA5137040	744	E>K		No	ClinGen ExAC TOPMed gnomAD
CA374104886 rs1338981593	745	V>D		No	ClinGen TOPMed
CA5137062 rs754779858	745	V>F		No	ClinGen ExAC TOPMed gnomAD
rs767338197 CA5137063	746	R>C		No	ClinGen ExAC gnomAD
rs1213770848 CA374104893	746	R>H		No	ClinGen TOPMed gnomAD
rs1213770848 CA374104891	746	R>P		No	ClinGen TOPMed gnomAD
rs752348421 CA5137064	747	H>Y		No	ClinGen ExAC gnomAD
CA374104903 rs755804301	748	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5137065 rs755804301	748	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA374104902 COSM753824 COSM753823 rs953383793	748	R>W	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs753426667 CA5137067	749	W>*		No	ClinGen ExAC TOPMed gnomAD
rs756773913 CA5137068	749	W>*		No	ClinGen ExAC gnomAD
rs1441812304 CA374104925	751	E>D		No	ClinGen gnomAD
rs779609883 CA5137069	751	E>K		No	ClinGen ExAC TOPMed gnomAD
rs746352676 CA5137070	757	K>E		No	ClinGen ExAC gnomAD
CA5137071 rs143074032	757	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5137072 rs148255075	759	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1564615030 CA374104987	760	K>N		No	ClinGen Ensembl
CA374104991 rs1357421218	761	A>T		No	ClinGen TOPMed gnomAD
rs776795440 CA5137075	761	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1587954093 CA374105001	762	Y>*		No	ClinGen Ensembl
CA5137076 rs761904452	763	K>E		No	ClinGen ExAC TOPMed gnomAD
rs769844423 CA5137077	763	K>I		No	ClinGen ExAC TOPMed gnomAD
CA374105003 rs761904452	763	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1278631278 CA374105009	764	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5137079 rs759503703	764	S>I		No	ClinGen ExAC gnomAD
CA196562526 rs371083989	765	V>M		No	ClinGen ESP TOPMed
CA5137080 rs767297758	766	E>D		No	ClinGen ExAC TOPMed gnomAD
CA5137081 rs752541021	767	R>K		No	ClinGen ExAC TOPMed gnomAD
rs939421378 CA196562538	767	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA374105027 rs1281274027	767	R>W		No	ClinGen gnomAD
rs893617564 CA196562541	768	F>L		No	ClinGen TOPMed gnomAD
CA196562547 rs865913187	770	Q>*		No	ClinGen Ensembl
CA374105046 rs865913187	770	Q>E		No	ClinGen Ensembl
rs1587954307 CA374105065	772	D>A		No	ClinGen Ensembl
rs1239197525 CA374105060	772	D>N		No	ClinGen gnomAD
rs1388491195 CA374105172	775	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs141717477 CA5137110	775	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA374105167 rs1169391109	775	M>V		No	ClinGen TOPMed
rs1564617621 CA374105177	776	G>D		No	ClinGen Ensembl
rs780350650 CA5137111	777	V>M		No	ClinGen ExAC gnomAD
rs1459288578 CA374105195	779	L>F		No	ClinGen gnomAD
CA5137112 rs200458500	780	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374105208 rs1197437357	781	G>E		No	ClinGen TOPMed
rs749407960 CA5137114	781	G>R		No	ClinGen ExAC TOPMed gnomAD
CA374105207 rs749407960	781	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1451510193 CA374105230	784	M>I		No	ClinGen TOPMed
CA374105225 rs1342878088	784	M>V		No	ClinGen gnomAD
rs775533595 CA5137116	785	V>L		No	ClinGen ExAC gnomAD
CA374105242 rs1247515957	786	S>T		No	ClinGen TOPMed gnomAD
rs1217381150 CA374105251	787	E>D		No	ClinGen gnomAD
rs768627363 CA5137118	787	E>G		No	ClinGen ExAC TOPMed gnomAD
CA5137120 rs761636461	789	A>G		No	ClinGen ExAC
rs1484962691 CA374105261	789	A>T		No	ClinGen gnomAD
rs1204450631 CA374105274	791	Q>E		No	ClinGen TOPMed gnomAD
rs577265828 CA5137121	792	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs376630565 CA5137123	795	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1463784 COSM1463783 rs375571307 CA196564148	796	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA5137124 rs367772142	796	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1312402335 CA374105313	797	R>K		No	ClinGen TOPMed gnomAD
rs1312402335 CA374105314	797	R>T		No	ClinGen TOPMed gnomAD
rs1160132501 CA374105323	798	C>F		No	ClinGen gnomAD
CA5137127 COSM274328 rs559653559 COSM274329	800	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs199890580 CA5137130	801	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA5137129 rs199890580	801	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs145969368 CA5137128	801	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs542513753 CA5137131	803	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA374105355 rs1564617891	803	K>N		No	ClinGen Ensembl
CA374105357 rs757421700	804	E>*		No	ClinGen ExAC TOPMed gnomAD
rs757421700 CA5137132	804	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs778843177 CA5137133	807	D>G		No	ClinGen ExAC TOPMed gnomAD
CA374105382 rs1487126665	807	D>Y		No	ClinGen gnomAD
rs114825859 CA5137134	808	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768721614 CA5137135	808	R>T		No	ClinGen ExAC gnomAD
CA5137136 rs776674491	811	A>G		No	ClinGen ExAC gnomAD
rs1256459726 CA374105405	811	A>P		No	ClinGen gnomAD
rs769454549 CA5137138	812	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA5137139 rs369897648	812	Q>R		No	ClinGen ESP ExAC gnomAD
CA196564260 rs911051946	813	V>M		No	ClinGen Ensembl
CA5137140 rs762510466	814	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1039120808 CA196564269	815	A>P		No	ClinGen gnomAD
CA374105426 rs1039120808	815	A>S		No	ClinGen gnomAD
CA374105430 rs1378669394	816	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1335367098 CA374105443	817	M>I		No	ClinGen gnomAD
CA196564282 rs920706246	817	M>T		No	ClinGen Ensembl
CA5137142 rs150812918	819	F>S		No	ClinGen ESP ExAC TOPMed gnomAD

1 associated diseases with Q8N6M6

[MIM: 619565]: Dystonia 31 (DYT31)

A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT31 is an autosomal recessive, progressive form with onset from childhood to young adulthood. Involuntary muscle twisting movements and postural abnormalities affect the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties. {ECO:0000269|PubMed:34596301}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT31 is an autosomal recessive, progressive form with onset from childhood to young adulthood. Involuntary muscle twisting movements and postural abnormalities affect the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties. {ECO:0000269|PubMed:34596301}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for Q8N6M6

Type	Name	Position	InterPro Accession
domain	Peptidase M1, membrane alanine aminopeptidase	434 - 651	IPR014782
domain	Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal	672 - 818	IPR015211

Functions

		Description
EC Number
Subcellular Localization	Nucleus, nucleolus ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.

2 GO annotations of molecular function

Name	Definition
metalloaminopeptidase activity	Catalysis of the hydrolysis of a single N-terminal amino acid residue from a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions.
zinc ion binding	Binding to a zinc ion (Zn).

1 GO annotations of biological process

Name	Definition
proteolysis	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q84TA3	LKHA4	Leucine aminopeptidase	Oryza sativa subsp japonica (Rice)	PR
Q9FY49	LKHA4	Leucine aminopeptidase	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MDIQLDPARD	DLPLMANTSH	ILVKHYVLDL	DVDFESQVIE	GTIVLFLEDG	NRFKKQNSSI
70	80	90	100	110	120
EEACQSESNK	ACKFGMPEPC	HIPVTNARTF	SSEMEYNDFA	ICSKGEKDTS	DKDGNHDNQE
130	140	150	160	170	180
HASGISSSKY	CCDTGNHGSE	DFLLVLDCCD	LSVLKVEEVD	VAAVPGLEKF	TRSPELTVVS
190	200	210	220	230	240
EEFRNQIVRE	LVTLPANRWR	EQLDYYARCS	QAPGCGELLF	DTDTWSLQIR	KTGAQTATDF
250	260	270	280	290	300
PHAIRIWYKT	KPEGRSVTWT	SDQSGRPCVY	TVGSPINNRA	LFPCQEPPVA	MSTWQATVRA
310	320	330	340	350	360
AASFVVLMSG	ENSAKPTQLW	EECSSWYYYV	TMPMPASTFT	IAVGCWTEMK	METWSSNDLA
370	380	390	400	410	420
TERPFSPSEA	NFRHVGVCSH	MEYPCRFQNA	SATTQEIIPH	RVFAPVCLTG	ACQETLLRLI
430	440	450	460	470	480
PPCLSAAHSV	LGAHPFSRLD	VLIVPANFPS	LGMASPHIMF	LSQSILTGGN	HLCGTRLCHE
490	500	510	520	530	540
IAHAWFGLAI	GARDWTEEWL	SEGFATHLED	VFWATAQQLA	PYEAREQQEL	RACLRWRRLQ
550	560	570	580	590	600
DEMQCSPEEM	QVLRPSKDKT	GHTSDSGASV	IKHGLNPEKI	FMQVHYLKGY	FLLRFLAKRL
610	620	630	640	650	660
GDETYFSFLR	KFVHTFHGQL	ILSQDFLQML	LENIPEEKRL	ELSVENIYQD	WLESSGIPKP
670	680	690	700	710	720
LQRERRAGAE	CGLARQVRAE	VTKWIGVNRR	PRKRKRREKE	EVFEKLLPDQ	LVLLLEHLLE
730	740	750	760	770	780
QKTLSPRTLQ	SLQRTYHLQD	QDAEVRHRWC	ELIVKHKFTK	AYKSVERFLQ	EDQAMGVYLY
790	800	810
GELMVSEDAR	QQQLARRCFE	RTKEQMDRSS	AQVVAEMLF