AiPD: Autoinhibited Protein Database

Q9NZ08

Gene name	ERAP1 (APPILS, ARTS1, KIAA0525, UNQ584/PRO1154)
Protein name	Endoplasmic reticulum aminopeptidase 1
Names	ARTS-1, Adipocyte-derived leucine aminopeptidase, A-LAP, Aminopeptidase PILS, Puromycin-insensitive leucyl-specific aminopeptidase, PILS-AP, Type 1 tumor necrosis factor receptor shedding aminopeptidase regulator
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51752
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-69 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-69 (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

15 structures for Q9NZ08

Entry ID	Method	Resolution	Chain	Position	Source
2YD0	X-ray	270 A	A	46-940	PDB
3MDJ	X-ray	295 A	A/B/C	37-939	PDB
3QNF	X-ray	300 A	A/B/C	1-941	PDB
3RJO	X-ray	230 A	A	529-941	PDB
5J5E	X-ray	280 A	A	529-941	PDB
6M8P	X-ray	331 A			PDB
6MGQ	X-ray	292 A	A/B/C	33-939	PDB
6Q4R	X-ray	160 A			PDB
6RQX	X-ray	168 A	A	1-938	PDB
6RYF	X-ray	172 A	A	46-938	PDB
6T6R	X-ray	167 A	A	1-941	PDB
7MWB	X-ray	320 A	A/B/C/D	529-941	PDB
7MWC	X-ray	300 A	A/B/C/D	529-941	PDB
7Z28	X-ray	155 A	A	45-936	PDB
AF-Q9NZ08-F1	Predicted				AlphaFoldDB

745 variants for Q9NZ08

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs556623443 RCV000190209 CA204222	319	M>V	Long QT syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs775441063 CA3352656	2	V>A		No	ClinGen ExAC gnomAD
rs1185940720 CA360498679	2	V>M		No	ClinGen gnomAD
TCGA novel	4	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1238130293 CA360498599	5	P>L		No	ClinGen gnomAD
rs769767022 CA3352655	6	L>F		No	ClinGen ExAC gnomAD
CA3352653 rs112161107	7	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs112161107 CA3352654	7	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA360498532 rs536387212	8	W>*		No	ClinGen TOPMed gnomAD
CA360498524 rs1360232192	8	W>*		No	ClinGen TOPMed gnomAD
CA360498522 rs1360232192	8	W>C		No	ClinGen TOPMed gnomAD
rs536387212 CA122976754	8	W>S		No	ClinGen TOPMed gnomAD
rs777284353 CA3352649	10	L>F		No	ClinGen ExAC TOPMed gnomAD
rs72773968 CA3352648	12	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA360498426 rs1444094861	13	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs752294856 CA3352647	16	L>P		No	ClinGen ExAC gnomAD
rs201547987 CA122976691	23	L>P		No	ClinGen 1000Genomes
CA3352644 rs754227333	23	L>V		No	ClinGen ExAC gnomAD
rs1230698087 CA360498267	27	S>Y		No	ClinGen TOPMed
rs766659105 CA3352643	28	T>A		No	ClinGen ExAC gnomAD
rs760894255 CA3352642	29	P>S		No	ClinGen ExAC gnomAD
rs767547816 CA3352640	31	W>R		No	ClinGen ExAC gnomAD
CA360498207 rs1198629445	32	C>Y		No	ClinGen gnomAD
rs764265980 CA3352638	33	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA360498178 rs1386777964	34	S>N		No	ClinGen TOPMed
CA122976614 rs868087567	36	E>G		No	ClinGen Ensembl
CA122976606 rs760931819	40	K>R		No	ClinGen TOPMed gnomAD
rs759393925 CA3352636	41	R>C		No	ClinGen ExAC gnomAD
rs550787852 CA3352635	41	R>H		No	ClinGen ExAC TOPMed gnomAD
rs550787852 CA360498020	41	R>L		No	ClinGen ExAC TOPMed gnomAD
rs746628901 CA3352634	43	D>H		No	ClinGen ExAC gnomAD
rs746628901 CA3352633	43	D>N		No	ClinGen ExAC gnomAD
rs1223921770 CA360497973	44	G>R		No	ClinGen gnomAD
rs777535271 CA3352631	51	K>N		No	ClinGen ExAC gnomAD
CA3352630 rs374618075	53	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA3352629 rs369776125	53	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3352628 rs778631686	54	L>P		No	ClinGen ExAC gnomAD
CA360497746 rs1480976471	54	L>V		No	ClinGen TOPMed gnomAD
rs1191857167 CA360497716	55	P>S		No	ClinGen gnomAD
CA3352625 rs780417251	56	E>G		No	ClinGen ExAC gnomAD
CA3352626 VAR_046681 rs3734016	56	E>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	58	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376575167 CA3352623	58	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs751637643 CA3352619	61	V>L		No	ClinGen ExAC gnomAD
rs759467088 CA3352617	62	H>R		No	ClinGen ExAC gnomAD
rs1272971538 CA360497517	63	Y>C		No	ClinGen TOPMed
rs1357413871 CA360497462	64	D>E		No	ClinGen Ensembl
CA360497481 rs1445184818	64	D>G		No	ClinGen gnomAD
rs1024465116 CA122976511	64	D>N		No	ClinGen TOPMed
CA3352616 rs138846351	68	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA360497333 rs1442429852	70	N>K		No	ClinGen TOPMed
rs762643625 CA122976470	72	T>N		No	ClinGen Ensembl
rs1581637982 CA360497291	72	T>P		No	ClinGen Ensembl
CA3352612 rs771845247	73	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1581637875 CA360497178	76	F>S		No	ClinGen Ensembl
TCGA novel CA360497147 rs1561291716	77	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen Ensembl
rs1471856830 CA360497156	77	W>R		No	ClinGen TOPMed gnomAD
CA122976385 rs1000039730	78	G>R		No	ClinGen TOPMed
rs151040768 CA3352608	79	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
COSM149892 CA3352607 rs780398020	79	T>I	stomach [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs756696790 CA3352605	80	T>M		No	ClinGen ExAC gnomAD
TCGA novel	81	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1307651757 CA360497025	81	K>N		No	ClinGen TOPMed gnomAD
rs1395691303 CA360496980	83	E>A		No	ClinGen TOPMed
rs781606976 CA3352602	84	I>T		No	ClinGen ExAC gnomAD
rs750744393 CA3352603	84	I>V		No	ClinGen ExAC TOPMed gnomAD
rs757409773 CA3352601	85	T>P		No	ClinGen ExAC gnomAD
rs1328532295 CA360496882	87	S>N		No	ClinGen TOPMed
CA3352600 rs751798914	88	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA360496843 rs751798914	88	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA3352599 rs764116738	88	Q>L		No	ClinGen ExAC gnomAD
CA360496833 rs764116738	88	Q>R		No	ClinGen ExAC gnomAD
CA3352598 rs762907349	90	T>I		No	ClinGen ExAC gnomAD
CA360496797 rs762907349	90	T>S		No	ClinGen ExAC gnomAD
rs1278108857 CA360496787	91	S>I		No	ClinGen TOPMed
CA3352597 rs752869956	91	S>R		No	ClinGen ExAC TOPMed gnomAD
CA360496770 rs1355273387	92	T>N		No	ClinGen TOPMed gnomAD
CA360496762 rs1172876152	93	I>V		No	ClinGen gnomAD
rs766211038 CA3352596	94	I>V		No	ClinGen ExAC gnomAD
CA360496692 rs1164324330	97	S>R		No	ClinGen gnomAD
CA3352594 rs773074441	98	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA360496684 rs1446330517	98	H>Y		No	ClinGen gnomAD
CA360496652 rs1422747370	100	L>M		No	ClinGen TOPMed
TCGA novel	101	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1071467 rs1449075742 CA360496618	102	I>T	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA3352592 rs761509401	103	S>P		No	ClinGen ExAC gnomAD
CA3352590 rs774180332	111	A>T		No	ClinGen ExAC gnomAD
CA122976305 rs372986824	113	E>K		No	ClinGen ESP
rs1403967641 CA360496432	114	R>G		No	ClinGen TOPMed
CA3352588 rs748728833	116	S>L		No	ClinGen ExAC TOPMed gnomAD
rs768397170 CA3352589	116	S>P		No	ClinGen ExAC gnomAD
rs748728833 CA360496404	116	S>W		No	ClinGen ExAC TOPMed gnomAD
rs746382079 CA3352585	117	E>K		No	ClinGen ExAC gnomAD
TCGA novel	118	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1374588334 CA360496374	119	P>T		No	ClinGen TOPMed gnomAD
rs1434525366 CA360496352	121	Q>K		No	ClinGen gnomAD
CA360496295 rs1581637204	125	H>P		No	ClinGen Ensembl
rs1561291085 CA360496290	125	H>Q		No	ClinGen Ensembl
rs757645504 CA3352583	125	H>Y		No	ClinGen ExAC gnomAD
rs747411668 CA360496287	126	P>A		No	ClinGen ExAC gnomAD
rs747411668 CA3352582	126	P>S		No	ClinGen ExAC gnomAD
CA3352580 rs551862991	127	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3352581 rs551862991	127	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs26653 CA360496272	127	R>H		No	ClinGen 1000Genomes ESP TOPMed
rs26653 CA360496269	127	R>L		No	ClinGen 1000Genomes ESP TOPMed
rs26653 CA3352578 VAR_012779	127	R>P		No	ClinGen UniProt 1000Genomes ESP TOPMed dbSNP
CA122976192 rs755948375	128	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA3352576 rs559746164	128	Q>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3352577 rs559746164	128	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA360496244 rs1189273965	129	E>G		No	ClinGen TOPMed gnomAD
CA3352573 rs147823699	132	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs761671083 CA3352572	133	L>V		No	ClinGen ExAC gnomAD
rs372306542 CA360496151	136	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs372306542 CA122976179	136	P>T		No	ClinGen TOPMed gnomAD
rs763643115 CA3352570	137	E>K	Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs762738438 CA3352569	138	P>L		No	ClinGen ExAC gnomAD
rs1561290788 CA360496103	139	L>P		No	ClinGen Ensembl
rs149653730 CA3352566	142	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs561662269 CA3352565	142	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1406843792 CA360496064	143	L>F		No	ClinGen gnomAD
rs140515309 CA3352564	144	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA122976138 rs867895297	145	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1301824127 CA360495985	146	T>I		No	ClinGen TOPMed
CA3352560 rs748415207	151	Y>C		No	ClinGen ExAC gnomAD
rs748415207 CA3352559	151	Y>S		No	ClinGen ExAC gnomAD
CA3352557 rs201670295	154	N>S		No	ClinGen ExAC gnomAD
TCGA novel	154	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360495792 rs1260377603	155	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1260377603 CA360495798	155	L>V		No	ClinGen TOPMed gnomAD
rs201066303 CA3352556	156	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs935308859 CA122976089	156	S>P		No	ClinGen TOPMed gnomAD
rs201066303 CA3352555	156	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1202156591 CA360495745	158	T>A		No	ClinGen gnomAD
CA3352552 rs763959165	158	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1284126514 CA360495723	160	H>N		No	ClinGen TOPMed gnomAD
CA3352550 CA3352549 rs149909757	161	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759022545 CA3352548	162	F>C		No	ClinGen ExAC gnomAD
rs1488119213 CA360495615	162	F>I		No	ClinGen TOPMed
rs776172967 CA3352547	164	K>*		No	ClinGen ExAC gnomAD
CA3352546 rs138997764	167	Y>*		No	ClinGen ESP ExAC gnomAD
CA360495266 rs1361465647	174	L>P		No	ClinGen gnomAD
rs150727280 CA360495269	174	L>V		No	ClinGen ESP ExAC gnomAD
rs141992697 CA3352543	175	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3352517 rs780229047	176	I>M		No	ClinGen ExAC gnomAD
rs1185750836 CA360493867	177	L>V		No	ClinGen gnomAD
rs1250072498 CA360493855	178	A>S		No	ClinGen gnomAD
CA3352514 rs777740803	180	T>A		No	ClinGen ExAC gnomAD
CA3352513 rs758323126	182	F>L		No	ClinGen ExAC gnomAD
CA3352512 rs142482678 RCV000915290	184	P>R		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs538001747 CA3352510	185	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3352509 rs753510979	186	A>T		No	ClinGen ExAC gnomAD
CA3352508 rs139782060	187	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs755620325 CA3352507	189	M>I		No	ClinGen ExAC gnomAD
rs749951499 CA3352506	190	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1381931168 CA360493598	192	P>A		No	ClinGen TOPMed gnomAD
CA360493600 rs1381931168	192	P>T		No	ClinGen TOPMed gnomAD
TCGA novel	193	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768057943 CA3352504	197	P>A		No	ClinGen ExAC TOPMed gnomAD
rs532477289 CA122974337	198	A>D		No	ClinGen TOPMed
CA122974335 rs532477289	198	A>G		No	ClinGen TOPMed
CA3352503 rs146396644	199	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA360493477 rs1386392457	199	F>I		No	ClinGen TOPMed gnomAD
CA3352501 rs577150352	202	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3352500 rs763222893	202	S>R		No	ClinGen ExAC gnomAD
CA3352499 rs200284630	205	I>V		No	ClinGen ExAC gnomAD
CA3352498 rs770185610	206	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1221831767 CA360493319	208	R>K		No	ClinGen gnomAD
rs745944184 CA3352497	211	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1369131136 CA360493208	212	R>S		No	ClinGen gnomAD
rs1203370192 CA360493194	213	H>P		No	ClinGen gnomAD
CA3352496 rs776638944	213	H>Y		No	ClinGen ExAC gnomAD
rs1370045374 CA360493171	214	L>I		No	ClinGen TOPMed
rs764600564 CA122974291	218	N>S		No	ClinGen Ensembl
rs112160177 CA360493079	219	M>K		No	ClinGen ExAC gnomAD
CA3352493 rs112160177	219	M>T		No	ClinGen ExAC gnomAD
CA3352492 rs142097626	220	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3352491 rs749121947	221	L>W		No	ClinGen ExAC gnomAD
CA3352473 rs768630025	222	V>L		No	ClinGen ExAC gnomAD
rs768630025 CA360492267	222	V>M		No	ClinGen ExAC gnomAD
rs779893649 CA3352471	228	A>S		No	ClinGen ExAC TOPMed gnomAD
rs745524390 CA3352469	229	E>D		No	ClinGen ExAC gnomAD
rs1179365911 CA360492199	233	E>Q		No	ClinGen TOPMed
CA3352467 rs756753628	235	H>Y		No	ClinGen ExAC gnomAD
rs1188603832 CA360492173	236	F>S		No	ClinGen gnomAD
rs1363085162 CA360492163	237	D>E		No	ClinGen TOPMed
CA360492161 rs1470403380	238	V>I		No	ClinGen gnomAD
rs1431724537 CA360492148	240	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	242	M>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA122972472 rs767353922	242	M>I		No	ClinGen Ensembl
CA3352466 rs751160279	243	S>R		No	ClinGen ExAC
TCGA novel	249	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3352462 rs370818718	250	I>M		No	ClinGen ESP ExAC gnomAD
CA360492009 rs1424134214	251	I>T		No	ClinGen TOPMed
rs1561281211 CA360491995	252	S>L		No	ClinGen Ensembl
CA360491982 rs1459794222	253	D>E		No	ClinGen gnomAD
rs765531629 CA3352461	254	F>L		No	ClinGen ExAC gnomAD
TCGA novel	255	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360491933 rs1389948787	257	V>D		No	ClinGen TOPMed
CA3352458 rs143271510	259	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA122972425 rs997265345	259	K>T		No	ClinGen Ensembl
rs1213475131 CA360491898	261	T>I		No	ClinGen TOPMed gnomAD
CA360491900 rs1213475131	261	T>N		No	ClinGen TOPMed gnomAD
CA3352457 rs773340064	262	K>N		No	ClinGen ExAC TOPMed gnomAD
CA3352455 rs768578615	263	S>C		No	ClinGen ExAC TOPMed gnomAD
rs775300383 CA3352453	264	G>E		No	ClinGen ExAC TOPMed gnomAD
CA360491872 rs1207103105	264	G>R		No	ClinGen TOPMed gnomAD
rs149597747 CA3352452	265	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149597747 CA3352451	265	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1014692210 CA122972408	266	K>T		No	ClinGen Ensembl
rs1405466146 CA360491584	268	S>P		No	ClinGen gnomAD
CA360491576 rs1187925686	269	V>A		No	ClinGen TOPMed
CA3352430 rs576554860	269	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA360491561 rs1219606137	271	A>V		No	ClinGen gnomAD
rs777367883 CA3352429	273	P>L		No	ClinGen ExAC gnomAD
rs771738565 CA3352428	274	D>E		No	ClinGen ExAC TOPMed gnomAD
CA3352427 rs26618 VAR_012780	276	I>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1305252378 CA360491517	278	Q>P		No	ClinGen gnomAD
CA360491498 rs1223579030	281	Y>N		No	ClinGen TOPMed gnomAD
CA360491484 rs1374249541	283	L>M		No	ClinGen gnomAD
rs112686030 CA3352424	284	D>N		No	ClinGen ExAC TOPMed gnomAD
rs367650672 CA3352423	286	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs780472511 CA3352421	287	V>G		No	ClinGen ExAC gnomAD
rs1303864554 CA360491459	287	V>L		No	ClinGen gnomAD
CA360491441 rs1224483337	290	L>P		No	ClinGen TOPMed
rs1340169425 CA360491443	290	L>V		No	ClinGen TOPMed
rs150415434 CA3352419	291	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA122969309 rs943962435	293	Y>*		No	ClinGen TOPMed gnomAD
CA360491420 rs1165483885	293	Y>C		No	ClinGen gnomAD
rs1277236036 CA360491413	294	E>G		No	ClinGen TOPMed
CA122969303 rs908477213	295	D>Y		No	ClinGen TOPMed
rs118132132 CA3352417	299	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA360491375 rs1268917693	299	I>T		No	ClinGen gnomAD
rs370484274 CA3352416	300	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1259497612 CA360491359	302	P>T		No	ClinGen gnomAD
rs759518427 CA3352412	303	L>I		No	ClinGen ExAC gnomAD
CA360491347 rs1270228719	304	P>L		No	ClinGen gnomAD
CA3352411 rs776280414	304	P>T		No	ClinGen ExAC gnomAD
CA360491344 rs1221864116	305	K>Q		No	ClinGen gnomAD
rs767642301 CA122969283	305	K>T		No	ClinGen Ensembl
CA3352410 rs766327991	306	Q>K		No	ClinGen ExAC gnomAD
CA3352400 rs746259362	310	A>P		No	ClinGen ExAC gnomAD
CA360491293 rs1323028174	311	I>L		No	ClinGen gnomAD
rs1305876620 CA360491277	313	D>A		No	ClinGen TOPMed gnomAD
rs751589831 CA3352397	313	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1305876620 CA360491278	313	D>G		No	ClinGen TOPMed gnomAD
rs757479383 CA3352398	313	D>N		No	ClinGen ExAC TOPMed gnomAD
CA360491264 rs1379822451	315	Q>*		No	ClinGen TOPMed
rs764295582 COSM4137900 CA3352396	315	Q>H	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	316	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs574810839 CA3352395	317	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1245091820 CA360491240	319	M>K		No	ClinGen TOPMed
rs760499157 CA3352393	321	N>D		No	ClinGen ExAC gnomAD
rs147839365 CA3352392	321	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA3352391 rs767212687	323	G>E		No	ClinGen ExAC gnomAD
CA3352390 rs544240020	325	T>S		No	ClinGen 1000Genomes ExAC
CA122968558 rs989797875	327	Y>C		No	ClinGen gnomAD
rs371320592 CA3352388	328	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3352387 rs749725342	331	A>V		No	ClinGen ExAC gnomAD
rs1202447724 CA360491153	333	L>M		No	ClinGen TOPMed gnomAD
CA360491121 rs1250788087	337	E>A		No	ClinGen gnomAD
rs964199212 CA122968547	338	K>E		No	ClinGen TOPMed gnomAD
CA360491106 rs1344153884	339	S>Y		No	ClinGen gnomAD
CA3352384 rs373383275	341	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1335961360 CA360491085	343	S>G		No	ClinGen gnomAD
TCGA novel	345	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360491061 rs27895	346	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_012781 rs27895 CA3352383	346	G>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3352382 rs746169335	347	I>V		No	ClinGen ExAC TOPMed gnomAD
VAR_012782 rs2287987 CA3352381	349	M>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1581600433 CA360491039	350	T>P		No	ClinGen Ensembl
CA122968522 rs1025827424	352	A>G		No	ClinGen TOPMed
rs376158201 CA122968512	354	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs771048925 CA3352380	354	E>K		No	ClinGen ExAC gnomAD
rs113607082 CA3352376	358	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs201397000 CA3352375	358	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs528011637 CA3352363	359	W>*		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	359	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771370196 CA3352362	361	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1473599997 CA360490954	361	G>W		No	ClinGen gnomAD
CA3352361 rs747365891	362	N>I		No	ClinGen ExAC gnomAD
CA360490926 rs1292011303	366	M>V		No	ClinGen gnomAD
CA360490916 rs1374866707	367	E>A		No	ClinGen TOPMed
CA360490918 rs1025825746	367	E>K		No	ClinGen TOPMed gnomAD
CA122968346 rs1025825746	367	E>Q		No	ClinGen TOPMed gnomAD
rs772197726 CA3352359	368	W>R		No	ClinGen ExAC gnomAD
CA360490894 rs769003642	370	N>D		No	ClinGen ExAC TOPMed gnomAD
CA3352358 rs769003642	370	N>H		No	ClinGen ExAC TOPMed gnomAD
CA3352356 rs756107142	373	W>C		No	ClinGen ExAC TOPMed gnomAD
rs1035358548 CA122968330	375	N>H		No	ClinGen TOPMed
CA360490845 rs1239478494	377	G>R		No	ClinGen TOPMed
CA3352353 rs757034798	377	G>V		No	ClinGen ExAC gnomAD
CA3352352 rs751331335	378	F>L		No	ClinGen ExAC gnomAD
CA122968312 rs1012146193	379	A>V		No	ClinGen TOPMed gnomAD
CA360490807 rs1393640319	382	M>I		No	ClinGen TOPMed
CA122968290 rs999329398	382	M>K		No	ClinGen TOPMed gnomAD
CA3352351 rs763741567	382	M>V		No	ClinGen ExAC gnomAD
rs762594894 CA3352350	385	V>A		No	ClinGen ExAC gnomAD
rs1581598661 CA360490731	393	E>D		No	ClinGen Ensembl
rs1352860558 CA360490730	394	L>M		No	ClinGen TOPMed
rs1459865391 CA360490692	398	D>G		No	ClinGen gnomAD
CA360490686 rs1561272716	399	Y>D		No	ClinGen Ensembl
rs777491138 CA3352332	402	G>S		No	ClinGen ExAC gnomAD
rs964531758 CA360490653	403	K>N		No	ClinGen TOPMed gnomAD
rs1417147088 CA360490650	404	C>R		No	ClinGen TOPMed
TCGA novel	404	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3352330 rs145458413	406	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs181668902 CA3352331	406	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376696268 CA3352328	407	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs753302931 CA3352327	407	A>V		No	ClinGen ExAC gnomAD
CA3352324 rs773613441	408	M>I		No	ClinGen ExAC gnomAD
CA3352325 rs375684249	408	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA360490618 rs1381109454	409	E>Q		No	ClinGen gnomAD
rs573281746 CA3352323	410	V>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1284001270 CA360490610	410	V>I		No	ClinGen gnomAD
CA3352321 rs774673424	412	A>S		No	ClinGen ExAC TOPMed gnomAD
rs774673424 CA3352322	412	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1326866329 CA360490584	414	N>Y		No	ClinGen gnomAD
CA3352319 rs3213809	417	H>Q		No	ClinGen 1000Genomes ESP TOPMed
CA360490555 rs1429250158	418	P>H		No	ClinGen gnomAD
rs954184597 CA122967682	419	V>M		No	ClinGen gnomAD
rs376993299 CA3352317	422	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA122967661 rs111453713	423	V>A		No	ClinGen Ensembl
rs749320575 CA3352316	423	V>M		No	ClinGen ExAC gnomAD
rs1473543051 CA360490525	424	E>Q		No	ClinGen gnomAD
CA3352315 rs139815574	425	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs139815574 CA122967659	425	N>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA122967655 rs369282468	426	P>L		No	ClinGen ESP TOPMed
rs146386179 CA3352314	429	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3352311 rs758152256	430	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3352312 rs777597802	430	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1280650293 CA360490484	431	E>K		No	ClinGen TOPMed
rs1229260914 CA360490469	432	M>I		No	ClinGen gnomAD
CA122967644 rs1015860137	432	M>T		No	ClinGen TOPMed gnomAD
CA360490467 rs1381594233	433	F>L		No	ClinGen gnomAD
CA360490457 rs1185602922	434	D>A		No	ClinGen TOPMed
rs747962101 CA3352310	436	V>I		No	ClinGen ExAC gnomAD
CA3352307 rs754631998	439	D>E		No	ClinGen ExAC TOPMed gnomAD
CA360490421 rs1309959202	439	D>G		No	ClinGen gnomAD
rs372779997 CA3352306	440	K>E		No	ClinGen ESP ExAC gnomAD
CA3352288 rs748941555	441	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1048449332 CA122966932	442	A>V		No	ClinGen TOPMed
CA3352286 rs755537548	447	M>T		No	ClinGen ExAC gnomAD
CA3352287 rs184320964	447	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3352284 rs781740371	450	E>G		No	ClinGen ExAC TOPMed gnomAD
rs757841926 CA3352283	451	Y>*		No	ClinGen ExAC gnomAD
CA360490316 rs27529	453	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3352281 rs549636751	454	A>T		No	ClinGen ExAC TOPMed gnomAD
CA122966894 rs759362108	455	D>G		No	ClinGen Ensembl
rs150674566 COSM3141978 CA3352279	456	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs956591178 CA122966855	457	F>V		No	ClinGen Ensembl
rs141891516 CA3352278	458	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs563590135 CA3352277	458	K>I		No	ClinGen 1000Genomes ExAC gnomAD
CA3352276 rs776697620	459	S>N		No	ClinGen ExAC TOPMed gnomAD
CA122966821 rs776697620	459	S>T		No	ClinGen ExAC TOPMed gnomAD
rs771994807 CA3352275	460	G>R		No	ClinGen ExAC gnomAD
rs761796488 CA3352274	460	G>V		No	ClinGen ExAC gnomAD
CA360490266 rs1390375975	462	V>L		No	ClinGen gnomAD
rs774110557 CA3352272	463	Q>H		No	ClinGen ExAC gnomAD
CA3352270 rs749139644	469	S>N		No	ClinGen ExAC gnomAD
CA360490178 rs1188324749	474	K>E		No	ClinGen gnomAD
rs750625401	475	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs769499046 CA3352268	475	N>T		No	ClinGen ExAC gnomAD
CA3352265 rs780912667	476	E>K		No	ClinGen ExAC TOPMed gnomAD
CA122966765 rs901731476	477	D>E		No	ClinGen Ensembl
CA360490152 rs1198897206	477	D>G		No	ClinGen gnomAD
CA3352264 rs757821867	478	L>P		No	ClinGen ExAC
CA122966756 rs988430096	480	D>V		No	ClinGen TOPMed
rs752155775 CA3352262	481	S>T		No	ClinGen ExAC gnomAD
rs1475717096 CA360490117	482	M>I		No	ClinGen gnomAD
CA360490119 rs1256599462	482	M>T		No	ClinGen gnomAD
CA360490123 rs1409280907	482	M>V		No	ClinGen TOPMed
rs778459913 CA3352261	484	S>N		No	ClinGen ExAC gnomAD
CA3352243 rs199837380	485	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA360490082 rs1457780790	486	C>Y		No	ClinGen TOPMed gnomAD
rs758951692 CA3352241	488	T>A		No	ClinGen ExAC gnomAD
rs1561269228 CA360490067	488	T>I		No	ClinGen Ensembl
COSM1544873 CA360490060 rs1581588028	489	D>E	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1167227913 CA360490062	489	D>G		No	ClinGen gnomAD
CA360490055 rs1471744535	490	G>D		No	ClinGen gnomAD
CA122966677 rs949593706	490	G>S		No	ClinGen Ensembl
CA3352240 rs748459086	491	V>I		No	ClinGen ExAC gnomAD
CA122966672 rs918150993	492	K>R		No	ClinGen Ensembl
CA3352239 rs779394598	493	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3352238 rs144737304	494	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	495	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3352237 rs191646005	496	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766619376 CA3352236	498	C>Y		No	ClinGen ExAC gnomAD
rs573655676 CA3352234	502	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
CA360489960 rs1373397332	504	S>*		No	ClinGen Ensembl
CA360489955 rs1288369434	505	S>Y		No	ClinGen gnomAD
CA3352232 rs763011004	507	S>P		No	ClinGen ExAC gnomAD
rs543363550 CA3352231	508	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1388175293 CA360489922	509	H>Y		No	ClinGen gnomAD
rs1411926795 CA360489881	514	G>E		No	ClinGen gnomAD
RCV000973089 CA3352217 rs78649652	514	G>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA360489837 COSM1163409 rs1172072950	520	M>I	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3352215 rs750494553	520	M>V		No	ClinGen ExAC gnomAD
rs567477737 CA3352214	521	M>I		No	ClinGen ExAC TOPMed gnomAD
CA3352213 rs758241492	527	Q>*		No	ClinGen ExAC gnomAD
CA360489783 rs30187	528	K>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3352212 VAR_012783 rs30187	528	K>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs765111869 CA3352211	529	G>D		No	ClinGen ExAC gnomAD
CA3352210 rs759349902	530	F>L		No	ClinGen ExAC gnomAD
CA360489772 rs1259797678	530	F>S		No	ClinGen TOPMed
rs1346309314 CA360489758	532	L>P		No	ClinGen TOPMed gnomAD
CA360489760 rs1346309314	532	L>R		No	ClinGen TOPMed gnomAD
CA3352204 rs142305981	538	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA122965938 rs142305981	538	R>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA360489723 rs142305981	538	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA360489717 rs1298840027	539	G>E		No	ClinGen gnomAD
CA3352201 rs769163244	541	N>H		No	ClinGen ExAC gnomAD
rs370389549 CA3352200	542	V>I		No	ClinGen ESP ExAC gnomAD
rs867452221 CA122965919	543	H>Y		No	ClinGen TOPMed
rs780462678 CA3352199	544	M>T		No	ClinGen ExAC gnomAD
CA360489677 rs769986988	545	K>R		No	ClinGen ExAC gnomAD
CA3352198 rs769986988	545	K>T		No	ClinGen ExAC gnomAD
CA360489672 rs1429051572	546	Q>E		No	ClinGen gnomAD
CA3352197 rs746146454	547	E>G		No	ClinGen ExAC gnomAD
rs757315097 CA3352195	548	H>Q		No	ClinGen ExAC gnomAD
CA3352196 rs781099119	548	H>R		No	ClinGen ExAC gnomAD
CA360489648 rs1459759381	549	Y>C		No	ClinGen TOPMed
CA3352194 rs751607776	550	M>V		No	ClinGen ExAC TOPMed gnomAD
rs762394161 CA122965902	552	G>D		No	ClinGen Ensembl
rs1271887817 CA360489619	553	S>C		No	ClinGen gnomAD
CA360489610 rs778847888	554	D>E		No	ClinGen ExAC TOPMed gnomAD
rs755036771 CA3352191	555	G>S		No	ClinGen ExAC TOPMed gnomAD
rs61734613 CA3352189	556	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs182529691 CA3352188	557	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs182529691 CA360489595	557	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA360489594 TCGA novel rs1581581587	558	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs767097419 CA3352186	559	T>A		No	ClinGen ExAC gnomAD
rs1358497911 CA360489581	560	G>R		No	ClinGen TOPMed
CA3352184 rs371023602	560	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3352169 rs767129427	563	W>*		No	ClinGen ExAC TOPMed gnomAD
CA360489539 rs1179416608	564	H>R		No	ClinGen TOPMed gnomAD
CA122965192 rs759741257	565	V>A		No	ClinGen TOPMed
CA122965194 rs759741257	565	V>D		No	ClinGen TOPMed
rs1487807455 CA360489535 COSM1439296	565	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA3352167 rs751067094	566	P>L		No	ClinGen ExAC TOPMed gnomAD
CA360489507 rs867003965 CA122965187	569	F>L		No	ClinGen TOPMed gnomAD
TCGA novel	571	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs6863093 CA3352164 VAR_046682	575	D>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_021555 CA3352165 rs10050860	575	D>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA360489457 rs1309267341	576	M>I		No	ClinGen gnomAD
TCGA novel	577	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765753277 CA3352163	577	V>F		No	ClinGen ExAC TOPMed gnomAD
CA3352162 rs759881381	578	H>R		No	ClinGen ExAC gnomAD
CA3352161 rs776931566	579	R>*		No	ClinGen ExAC gnomAD
rs909816083 CA122965168	579	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs747245080 CA3352159	582	L>Q		No	ClinGen ExAC
TCGA novel	584	T>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773395784 CA3352158	584	T>S		No	ClinGen ExAC gnomAD
rs748261592 CA3352156	585	K>I		No	ClinGen ExAC TOPMed gnomAD
rs748261592 CA360489405	585	K>R		No	ClinGen ExAC TOPMed gnomAD
CA360489401 rs1346419587	586	T>P		No	ClinGen gnomAD
rs143293248 CA360489379	587	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000965690 rs114703312 CA3352141	588	V>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1453912795 CA360489370	589	L>F		No	ClinGen TOPMed
rs766695604 CA3352140	590	I>L		No	ClinGen ExAC gnomAD
rs939221924 CA122965001	591	L>F		No	ClinGen TOPMed
rs761132676 CA3352139	592	P>S		No	ClinGen ExAC gnomAD
rs1447978195 CA360489334	595	V>M		No	ClinGen TOPMed
rs1212890114 CA360489305	598	I>M		No	ClinGen gnomAD
rs189721036 CA360489273	603	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3352138 rs189721036	603	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772438748 CA3352137	604	M>V		No	ClinGen ExAC TOPMed gnomAD
CA122964992 rs146434826	606	G>D		No	ClinGen ESP
CA360489242 rs1227955832	607	Y>*		No	ClinGen gnomAD
rs1220017370 CA360489246	607	Y>H		No	ClinGen TOPMed
rs748171332 CA3352136	608	Y>H		No	ClinGen ExAC gnomAD
rs1310188373 CA360489222	610	V>G		No	ClinGen gnomAD
rs76433375 CA122964986	610	V>L		No	ClinGen Ensembl
rs1029295409 CA122964981	612	Y>C		No	ClinGen Ensembl
CA360489213 rs1379199758	612	Y>D		No	ClinGen gnomAD
rs149374891 CA3352132	613	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745841355 CA3352133	613	E>K	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3352134 rs745841355	613	E>Q		No	ClinGen ExAC gnomAD
rs1168349547 CA360489196	614	D>V		No	ClinGen gnomAD
CA360489169 rs201856260	618	D>N		No	ClinGen ExAC TOPMed gnomAD
rs201856260 CA3352131	618	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1162881517 CA360489159	619	S>F		No	ClinGen gnomAD
CA3352130 rs746825764	619	S>T		No	ClinGen ExAC gnomAD
rs143881089 CA3352128	620	L>F		No	ClinGen ESP ExAC
rs752194111 CA3352126	622	G>S		No	ClinGen ExAC
rs1190174398 CA360489139	623	L>F		No	ClinGen gnomAD
rs34212508	624	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360489127 rs1482027370	625	K>E		No	ClinGen gnomAD
TCGA novel	625	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360489113 rs1242710228	627	T>A		No	ClinGen TOPMed
rs754258784 CA3352121	631	V>G		No	ClinGen ExAC gnomAD
CA122964957 rs1005330561	633	S>N		No	ClinGen Ensembl
rs1294579117 CA360489064	634	N>S		No	ClinGen gnomAD
rs144333828 CA3352117	636	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3352118 COSM3702863 rs750820496	636	R>W	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3352116 rs530052485	637	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs774548991 CA3352115	637	A>V		No	ClinGen ExAC TOPMed
rs763120767 CA3352113	638	S>R		No	ClinGen ExAC gnomAD
rs776379949 CA3352112	641	N>K		No	ClinGen ExAC gnomAD
CA122964945 rs957580019	644	F>C		No	ClinGen TOPMed gnomAD
rs139359454 CA3352111	645	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3352108 rs747842859	647	V>D		No	ClinGen ExAC gnomAD
rs747842859 CA3352107	647	V>G		No	ClinGen ExAC gnomAD
COSM74535 CA3352109 rs111363347	647	V>I	ovary [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	648	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360488963 rs1433086854	649	I>L		No	ClinGen gnomAD
CA3352080 rs764153121	649	I>M		No	ClinGen ExAC TOPMed gnomAD
rs147252760 CA3352081	649	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs758706993 CA3352079	650	G>E		No	ClinGen ExAC gnomAD
CA3352078 rs752700125	652	L>V		No	ClinGen ExAC gnomAD
CA122964312 rs201253143	655	E>K		No	ClinGen Ensembl
CA3352074 rs767457408	657	A>T		No	ClinGen ExAC gnomAD
TCGA novel	660	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377644216 CA3352073	661	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA3352071 rs768179003	662	L>R		No	ClinGen ExAC gnomAD
rs148070748 CA3352069	663	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143726979 CA3352070	663	Y>C		No	ClinGen ESP ExAC TOPMed
CA360488870 rs1440249248	664	L>V		No	ClinGen TOPMed gnomAD
TCGA novel	669	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769387880 CA3352068	669	E>G		No	ClinGen ExAC TOPMed gnomAD
rs761247044 CA122964285	671	M>K		No	ClinGen gnomAD
rs761247044 CA360488818	671	M>T		No	ClinGen gnomAD
rs745389132 CA3352067	671	M>V		No	ClinGen ExAC TOPMed gnomAD
CA3352066 rs769706721	672	P>H		No	ClinGen ExAC gnomAD
CA122964282 rs769706721	672	P>R		No	ClinGen ExAC gnomAD
CA3352061 rs752927512	673	V>E		No	ClinGen ExAC gnomAD
rs758521582 CA3352063	673	V>L		No	ClinGen ExAC TOPMed gnomAD
rs758521582 CA3352062	673	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs572153706 CA122964279	674	F>I		No	ClinGen Ensembl
CA360488798 rs1338734153	675	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs754994723 CA3352059	679	E>K		No	ClinGen ExAC TOPMed gnomAD
rs753921145 CA3352058	683	M>V		No	ClinGen ExAC gnomAD
CA3352057 rs767439471	684	Y>C		No	ClinGen ExAC gnomAD
CA360488733 rs767439471	684	Y>F		No	ClinGen ExAC gnomAD
rs763989813 CA3352053	687	M>K		No	ClinGen ExAC gnomAD
CA3352054 rs763989813	687	M>R		No	ClinGen ExAC gnomAD
rs761866231 CA3352055	687	M>V		No	ClinGen ExAC gnomAD
CA3352052 rs762687849	688	E>V		No	ClinGen ExAC gnomAD
rs1259380103 CA360488694	690	R>G		No	ClinGen TOPMed gnomAD
rs769580258 CA3352050	691	D>E		No	ClinGen ExAC gnomAD
CA360488685 rs1338366492	691	D>Y		No	ClinGen Ensembl
CA3352049 rs759046617	692	M>T		No	ClinGen ExAC gnomAD
CA360488597 rs1348774695	701	A>S		No	ClinGen TOPMed
CA360488585 rs1409672284	703	L>I		No	ClinGen gnomAD
CA122963986 rs996263439	708	R>K		No	ClinGen TOPMed
CA3352023 rs770438368	709	D>N		No	ClinGen ExAC gnomAD
CA3352022 rs760129777	709	D>V		No	ClinGen ExAC gnomAD
CA360488543 rs1371439276	710	L>I		No	ClinGen gnomAD
rs773715790 CA3352021	711	I>L		No	ClinGen ExAC gnomAD
CA3352020 rs138598123	711	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767933024 CA3352019	712	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	712	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA122963974 rs201469459	713	K>Q		No	ClinGen 1000Genomes
rs1040126646 CA122963971	714	Q>R		No	ClinGen Ensembl
rs1462500273 CA360488511	715	T>P		No	ClinGen gnomAD
rs1326105900 CA360488493	717	T>K		No	ClinGen gnomAD
rs768842345 CA3352017	719	E>K		No	ClinGen ExAC gnomAD
CA360488451 rs1400621503	724	E>K		No	ClinGen TOPMed gnomAD
CA3352015 rs780170182	725	R>*		No	ClinGen ExAC TOPMed gnomAD
CA3352014 rs17482078	725	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_021556 CA3352013 rs17482078	725	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA122963966 rs886311413	726	M>T		No	ClinGen Ensembl
rs112266389 CA122963964	727	L>P		No	ClinGen Ensembl
rs201805082 CA360488426	728	R>P		No	ClinGen ExAC TOPMed gnomAD
CA3352012 rs201805082	728	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA360488428 rs1453021541	728	R>W		No	ClinGen TOPMed gnomAD
rs1323985052 CA360488424	729	S>G		No	ClinGen Ensembl
rs27044 CA360488416	730	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3352010 rs27044 VAR_012784	730	Q>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA360488409 rs1266256822	731	L>V		No	ClinGen gnomAD
rs765961121 CA3352006	735	A>T		No	ClinGen ExAC gnomAD
rs375081137 CA3352005	736	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3352003 rs200156544	736	C>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3352004 rs772668678	736	C>Y		No	ClinGen ExAC gnomAD
CA360488375 rs1581553574	737	V>G		No	ClinGen Ensembl
rs992279670 CA360488366	738	H>Q		No	ClinGen gnomAD
CA122963950 rs939498510	739	N>K		No	ClinGen Ensembl
rs774663975 CA3352001	742	P>L		No	ClinGen ExAC TOPMed gnomAD
rs774663975 CA3352002	742	P>R		No	ClinGen ExAC TOPMed gnomAD
rs146423238 CA3351999	743	C>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370949768 CA3351997	744	V>I		No	ClinGen ExAC TOPMed gnomAD
rs370949768 CA360488329 CA360488330	744	V>L		No	ClinGen ExAC TOPMed gnomAD
rs796960173 CA122963938	746	R>K		No	ClinGen gnomAD
TCGA novel	746	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360488299 rs1272567515	748	E>D		No	ClinGen TOPMed
rs1216262934 CA360488302	748	E>G		No	ClinGen TOPMed
rs758386184 CA3351994	749	G>A		No	ClinGen ExAC gnomAD
rs758386184 CA3351995	749	G>D		No	ClinGen ExAC gnomAD
rs202045893 CA122963935	749	G>S		No	ClinGen 1000Genomes gnomAD
TCGA novel	753	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1455736530 CA360488258	754	W>*		No	ClinGen gnomAD
rs1259997160 CA360488253	755	K>E		No	ClinGen gnomAD
CA3351993 rs145659288	755	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	756	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779017908 CA3351992	757	S>P		No	ClinGen ExAC gnomAD
rs766054149 CA3351989	758	N>I		No	ClinGen ExAC TOPMed gnomAD
CA3351990 rs766054149	758	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3351987 rs749929768	759	G>E		No	ClinGen ExAC gnomAD
CA3351985 rs761340632	762	S>T		No	ClinGen ExAC
rs375467336 CA3351965	766	D>A		No	ClinGen ESP ExAC
rs151103435 CA3351966	766	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1249634303 CA360488166	767	V>E		No	ClinGen TOPMed
rs765558492 CA3351963	767	V>L		No	ClinGen ExAC gnomAD
rs765558492 CA3351962 COSM1071459	767	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs759969521 CA3351961	768	T>N		No	ClinGen ExAC gnomAD
CA3351959 rs771283209	769	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1162837179 CA360488151	770	A>P		No	ClinGen gnomAD
CA360488144 rs1474948117	771	V>L		No	ClinGen gnomAD
CA3351956 rs768696712	773	A>S		No	ClinGen ExAC gnomAD
CA360488127 rs1444043476	774	V>M		No	ClinGen TOPMed
CA360488117 rs1428070123	775	G>A		No	ClinGen TOPMed
CA360488119 rs1372578453	775	G>R		No	ClinGen TOPMed
TCGA novel	776	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3351953 rs769423958	776	A>S		No	ClinGen ExAC gnomAD
CA360488111 rs1561668397	776	A>V		No	ClinGen Ensembl
rs780752707 CA3351950	778	S>I		No	ClinGen ExAC gnomAD
rs756970787 CA3351949	780	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA3351947 rs751054707	783	D>N		No	ClinGen ExAC TOPMed
TCGA novel	783	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1334571580 CA360488050	785	L>F		No	ClinGen gnomAD
CA3351945 rs554410467	787	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1375767597 CA360488035	787	S>T		No	ClinGen gnomAD
rs993703459 CA122963462	788	K>E		No	ClinGen Ensembl
rs1395229760 CA360488012	790	Q>R		No	ClinGen gnomAD
CA360488008 rs1581544567	791	F>V		No	ClinGen Ensembl
rs1037989002 CA122963455	793	L>*		No	ClinGen Ensembl
rs941672514 CA122963451	793	L>F		No	ClinGen Ensembl
TCGA novel	794	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360487974 rs1363226734	796	T>A		No	ClinGen gnomAD
CA3351942 rs759753328	796	T>I		No	ClinGen ExAC gnomAD
CA360487935 rs1483476644	801	I>T		No	ClinGen TOPMed
CA3351938 rs761031155	801	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	802	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA122963442 rs866159358	804	A>V		No	ClinGen Ensembl
TCGA novel	808	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1468652700 CA360487875	810	N>D		No	ClinGen gnomAD
rs1202920471 CA360487851	813	K>E		No	ClinGen gnomAD
rs772241527 CA3351936	814	L>F		No	ClinGen ExAC gnomAD
CA360487840 rs1561667939	814	L>R		No	ClinGen Ensembl
CA360487828 rs1392176204	816	W>L		No	ClinGen TOPMed
CA3351935 rs761972593 CA122963417	816	W>R		No	ClinGen ExAC TOPMed gnomAD
CA3351917 rs138617866	818	L>R		No	ClinGen 1000Genomes ExAC gnomAD
CA3351916 rs371817031	819	D>N		No	ClinGen ESP ExAC TOPMed
rs761728049 CA3351915	820	E>D		No	ClinGen ExAC gnomAD
CA122963283 rs906934972	821	S>G		No	ClinGen TOPMed
rs906934972 COSM84916 CA122963286	821	S>R	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed
CA360487788 rs1364493624	821	S>T		No	ClinGen TOPMed
CA3351914 rs774553873	824	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1037985359 CA122963279	825	D>G		No	ClinGen TOPMed
TCGA novel	827	I>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA122963273 rs916059590	828	K>E		No	ClinGen TOPMed
rs776376910 CA3351911	831	E>A		No	ClinGen ExAC gnomAD
CA3351912 rs776376910	831	E>G		No	ClinGen ExAC gnomAD
rs80088786 CA360487707	832	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	833	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746821452 CA3351909	835	I>T		No	ClinGen ExAC gnomAD
rs1373097231 CA360487686	836	L>I		No	ClinGen gnomAD
rs1243787238 CA360487682	836	L>P		No	ClinGen TOPMed
CA3351908 rs147939272	839	I>T		No	ClinGen ESP ExAC TOPMed
rs1489556586 CA360487648	842	N>D		No	ClinGen gnomAD
CA360487644 rs1581541606	842	N>K		No	ClinGen Ensembl
rs1054227051 CA122963260	842	N>T		No	ClinGen Ensembl
rs1230975384 CA360487637	843	P>L		No	ClinGen TOPMed
rs938399396 CA122963256	844	V>A		No	ClinGen TOPMed gnomAD
rs771824298 CA3351907	844	V>L		No	ClinGen ExAC gnomAD
rs1371862164 CA360487630	845	G>*		No	ClinGen TOPMed gnomAD
CA3351906 rs747598814	845	G>A		No	ClinGen ExAC TOPMed gnomAD
CA360487625 rs1281209890	846	Y>H		No	ClinGen TOPMed gnomAD
CA360487592 rs140865304	851	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs140865304 CA3351903	851	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1220587942 CA360487562	855	K>R		No	ClinGen gnomAD
TCGA novel	856	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1353458385 CA360487542	857	W>*		No	ClinGen TOPMed gnomAD
CA360487544 rs1353458385	857	W>C		No	ClinGen TOPMed gnomAD
rs780732764 CA122963235	859	K>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	859	K>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780732764 CA3351902	859	K>T		No	ClinGen ExAC TOPMed gnomAD
CA360487525 rs1409116850	860	L>F		No	ClinGen TOPMed
rs1334572303 CA360487518	861	V>A		No	ClinGen TOPMed
rs756485633 CA3351901	863	K>R		No	ClinGen ExAC gnomAD
CA122963071 rs1057403822	864	F>C		No	ClinGen TOPMed gnomAD
CA360487485 rs1057403822	864	F>S		No	ClinGen TOPMed gnomAD
CA360487486 rs1057403822	864	F>Y		No	ClinGen TOPMed gnomAD
rs746217625 CA3351881	867	G>R		No	ClinGen ExAC gnomAD
rs781657199 CA3351880	868	S>P	Variant assessed as Somatic; 9.254e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs757390280 CA360487432	873	H>N		No	ClinGen ExAC gnomAD
CA3351879 rs757390280	873	H>Y		No	ClinGen ExAC gnomAD
CA122963063 rs147242644	874	M>T		No	ClinGen ESP TOPMed
rs1469902837 CA360487425	874	M>V		No	ClinGen gnomAD
rs1192903496 CA360487409	876	M>T		No	ClinGen TOPMed
CA3351878 rs751762996	876	M>V		No	ClinGen ExAC gnomAD
CA3351877 rs777879438	877	G>S		No	ClinGen ExAC gnomAD
CA3351875 rs752843898	879	T>K		No	ClinGen ExAC TOPMed gnomAD
CA360487381 rs1214472415 CA360487382	880	N>K		No	ClinGen TOPMed gnomAD
rs766290271 CA3351874	881	Q>*		No	ClinGen ExAC gnomAD
rs750157352 CA3351872	883	S>P		No	ClinGen ExAC TOPMed gnomAD
rs750157352 CA3351873	883	S>T		No	ClinGen ExAC TOPMed gnomAD
rs548815514 CA3351871	886	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA360487341 rs200571600	887	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3351869 rs200571600	887	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3351870 rs371393983	887	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1342946939 CA360487323	890	E>A		No	ClinGen gnomAD
CA360487326 rs1438047126	890	E>K		No	ClinGen gnomAD
rs771408921 CA3351829	893	G>R		No	ClinGen ExAC TOPMed gnomAD
CA360487280 rs1211720475	895	F>V		No	ClinGen gnomAD
TCGA novel	896	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360487261 rs1232807490	897	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3351827 rs554933786	897	S>P		No	ClinGen ExAC TOPMed gnomAD
CA360487254 rs1473435622	898	L>F		No	ClinGen TOPMed
rs772252247 CA3351826	902	G>D		No	ClinGen ExAC gnomAD
rs1280598817 CA360487214	904	Q>P		No	ClinGen gnomAD
rs748333816 CA3351825	906	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1341565566 CA3351823	906	R>H		No	ClinGen TOPMed gnomAD
rs748333816 CA360487202	906	R>S		No	ClinGen ExAC TOPMed gnomAD
rs754996671 CA3351821	907	C>F		No	ClinGen ExAC TOPMed gnomAD
CA3351822 rs373000476	907	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3351820 rs749335992	910	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA360487179 rs749335992	910	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA3351819 rs781182080	911	T>K		No	ClinGen ExAC gnomAD
rs757197257 CA3351818	912	I>T		No	ClinGen ExAC gnomAD
TCGA novel CA3351817 rs751343187	913	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
rs1185625414 CA360487153	914	T>A		No	ClinGen TOPMed gnomAD
COSM3781945 RCV000958818 rs139576768 CA3351813	915	I>T	pancreas [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3351812 rs764993926	918	N>H		No	ClinGen ExAC gnomAD
CA3351809 rs200883678	920	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1319340174 CA360487101	921	W>*		No	ClinGen gnomAD
rs1198912183 CA360487103	921	W>S		No	ClinGen gnomAD
CA3351807 rs773740864	923	D>E		No	ClinGen ExAC gnomAD
rs1581518611 CA360487062	926	F>S		No	ClinGen Ensembl
TCGA novel	927	D>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360487053 rs1340463634	927	D>E		No	ClinGen gnomAD
rs772381743 CA3351806	927	D>N		No	ClinGen ExAC gnomAD
rs1561658439 CA360487031	930	R>S		No	ClinGen Ensembl
CA3351803 rs768831153	930	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1466338362 CA360487025	931	V>G		No	ClinGen gnomAD
rs1190611228 CA360487024	932	W>R		No	ClinGen TOPMed
CA3351802 rs749371361	934	Q>P		No	ClinGen ExAC gnomAD
CA360487007 rs749371361	934	Q>R		No	ClinGen ExAC gnomAD
rs544733995 CA3351801	938	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757184620 CA3351800	939	E>Q		No	ClinGen ExAC
CA3351798 rs558484855	940	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3351796 rs111774449	940	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA3351797 rs111774449	940	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3351799 rs558484855	940	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA360486956 rs1166619637	941	M>I		No	ClinGen gnomAD
CA3351795 rs764254869	942	M>Y		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q9NZ08

3 regional properties for Q9NZ08

Type	Name	Position	InterPro Accession
domain	Peptidase M1, membrane alanine aminopeptidase	281 - 524	IPR014782
domain	ERAP1-like C-terminal domain	597 - 916	IPR024571
domain	Aminopeptidase N-like, N-terminal domain	60 - 246	IPR045357

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum membrane ; Single-pass type II membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

11 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.
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).
endoplasmic reticulum lumen	The volume enclosed by the membranes of the endoplasmic reticulum.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
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.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

8 GO annotations of molecular function

Name	Definition
aminopeptidase activity	Catalysis of the hydrolysis of a single N-terminal amino acid residue from a polypeptide chain.
endopeptidase activity	Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain.
interleukin-1, type II receptor binding	Binding to a Type II interleukin-1 receptor.
interleukin-6 receptor binding	Binding to an interleukin-6 receptor.
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.
metalloexopeptidase activity	Catalysis of the hydrolysis of a peptide bond not more than three residues from the N- or C-terminus of 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.
peptide binding	Binding to a peptide, an organic compound comprising two or more amino acids linked by peptide bonds.
zinc ion binding	Binding to a zinc ion (Zn).

13 GO annotations of biological process

Name	Definition
adaptive immune response	An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).
angiogenesis	Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
antigen processing and presentation of endogenous peptide antigen via MHC class I	The process in which an antigen-presenting cell expresses a peptide antigen of endogenous origin on its cell surface in association with an MHC class I protein complex. The peptide antigen is typically, but not always, processed from a whole protein. Class I here refers to classical class I molecules.
antigen processing and presentation of peptide antigen via MHC class I	The process in which an antigen-presenting cell expresses a peptide antigen on its cell surface in association with an MHC class I protein complex. Class I here refers to classical class I molecules.
fat cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of an adipocyte, an animal connective tissue cell specialized for the synthesis and storage of fat.
membrane protein ectodomain proteolysis	The proteolytic cleavage of transmembrane proteins and release of their ectodomain (extracellular domain).
peptide catabolic process	The chemical reactions and pathways resulting in the breakdown of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another.
positive regulation of angiogenesis	Any process that activates or increases angiogenesis.
proteolysis	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.
regulation of blood pressure	Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure.
regulation of innate immune response	Any process that modulates the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection.
response to bacterium	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

22 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P40462	TMA108	Protein TMA108	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
P32454	APE2	Aminopeptidase 2, mitochondrial	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
P79171	ANPEP	Aminopeptidase N	Felis catus (Cat) (Felis silvestris catus)	PR
Q9UIQ6	LNPEP	Leucyl-cystinyl aminopeptidase	Homo sapiens (Human)	PR
P15144	ANPEP	Aminopeptidase N	Homo sapiens (Human)	PR
Q9UKU6	TRHDE	Thyrotropin-releasing hormone-degrading ectoenzyme	Homo sapiens (Human)	PR
P55786	NPEPPS	Puromycin-sensitive aminopeptidase	Homo sapiens (Human)	PR
Q11011	Npepps	Puromycin-sensitive aminopeptidase	Mus musculus (Mouse)	PR
Q8C129	Lnpep	Leucyl-cystinyl aminopeptidase	Mus musculus (Mouse)	PR
Q8K093	Trhde	Thyrotropin-releasing hormone-degrading ectoenzyme	Mus musculus (Mouse)	PR
P97449	Anpep	Aminopeptidase N	Mus musculus (Mouse)	PR
Q9EQH2	Erap1	Endoplasmic reticulum aminopeptidase 1	Mus musculus (Mouse)	PR
P15145	ANPEP	Aminopeptidase N	Sus scrofa (Pig)	PR
Q10836	Trhde	Thyrotropin-releasing hormone-degrading ectoenzyme	Rattus norvegicus (Rat)	PR
P97629	Lnpep	Leucyl-cystinyl aminopeptidase	Rattus norvegicus (Rat)	PR
P15684	Anpep	Aminopeptidase N	Rattus norvegicus (Rat)	PR
Q9JJ22	Erap1	Endoplasmic reticulum aminopeptidase 1	Rattus norvegicus (Rat)	PR
Q0J5V5	Os08g0398700	Aminopeptidase M1-B	Oryza sativa subsp japonica (Rice)	PR
Q6Z6L4	Os02g0218200	Aminopeptidase M1-A	Oryza sativa subsp japonica (Rice)	PR
Q6K4E7	Os09g0362800	Aminopeptidase M1-D	Oryza sativa subsp japonica (Rice)	PR
Q17405	AC3.5	Aminopeptidase-like protein AC3.5	Caenorhabditis elegans	PR
Q8VZH2	APM1	Aminopeptidase M1	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MVFLPLKWSL	ATMSFLLSSL	LALLTVSTPS	WCQSTEASPK	RSDGTPFPWN	KIRLPEYVIP
70	80	90	100	110	120
VHYDLLIHAN	LTTLTFWGTT	KVEITASQPT	STIILHSHHL	QISRATLRKG	AGERLSEEPL
130	140	150	160	170	180
QVLEHPRQEQ	IALLAPEPLL	VGLPYTVVIH	YAGNLSETFH	GFYKSTYRTK	EGELRILAST
190	200	210	220	230	240
QFEPTAARMA	FPCFDEPAFK	ASFSIKIRRE	PRHLAISNMP	LVKSVTVAEG	LIEDHFDVTV
250	260	270	280	290	300
KMSTYLVAFI	ISDFESVSKI	TKSGVKVSVY	AVPDKINQAD	YALDAAVTLL	EFYEDYFSIP
310	320	330	340	350	360
YPLPKQDLAA	IPDFQSGAME	NWGLTTYRES	ALLFDAEKSS	ASSKLGITMT	VAHELAHQWF
370	380	390	400	410	420
GNLVTMEWWN	DLWLNEGFAK	FMEFVSVSVT	HPELKVGDYF	FGKCFDAMEV	DALNSSHPVS
430	440	450	460	470	480
TPVENPAQIR	EMFDDVSYDK	GACILNMLRE	YLSADAFKSG	IVQYLQKHSY	KNTKNEDLWD
490	500	510	520	530	540
SMASICPTDG	VKGMDGFCSR	SQHSSSSSHW	HQEGVDVKTM	MNTWTLQKGF	PLITITVRGR
550	560	570	580	590	600
NVHMKQEHYM	KGSDGAPDTG	YLWHVPLTFI	TSKSDMVHRF	LLKTKTDVLI	LPEEVEWIKF
610	620	630	640	650	660
NVGMNGYYIV	HYEDDGWDSL	TGLLKGTHTA	VSSNDRASLI	NNAFQLVSIG	KLSIEKALDL
670	680	690	700	710	720
SLYLKHETEI	MPVFQGLNEL	IPMYKLMEKR	DMNEVETQFK	AFLIRLLRDL	IDKQTWTDEG
730	740	750	760	770	780
SVSERMLRSQ	LLLLACVHNY	QPCVQRAEGY	FRKWKESNGN	LSLPVDVTLA	VFAVGAQSTE
790	800	810	820	830	840
GWDFLYSKYQ	FSLSSTEKSQ	IEFALCRTQN	KEKLQWLLDE	SFKGDKIKTQ	EFPQILTLIG
850	860	870	880	890	900
RNPVGYPLAW	QFLRKNWNKL	VQKFELGSSS	IAHMVMGTTN	QFSTRTRLEE	VKGFFSSLKE
910	920	930	940
NGSQLRCVQQ	TIETIEENIG	WMDKNFDKIR	VWLQSEKLER	M