AiPD: Autoinhibited Protein Database

P19021

Gene name	PAM
Protein name	Peptidyl-glycine alpha-amidating monooxygenase
Names	PAM
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5066
EC number	1.14.17.3: With reduced ascorbate as one donor, and incorporation of one atom of oxygen
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

910-973 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

910-973 (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 P19021

Entry ID	Method	Resolution	Chain	Position	Source
AF-P19021-F1	Predicted				AlphaFoldDB

770 variants for P19021

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs763659102 CA3358489	2	A>V		No	ClinGen ExAC gnomAD
CA3358490 rs751303365	3	G>S		No	ClinGen ExAC gnomAD
CA3358493 rs750236576	6	P>L		No	ClinGen ExAC gnomAD
CA360598505 rs1423603194	7	S>G		No	ClinGen gnomAD
CA3358495 rs755806888	10	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3358494 rs755806888	10	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3358496 rs753676562	13	V>A		No	ClinGen ExAC gnomAD
CA360598559 rs1214377158	15	P>L		No	ClinGen gnomAD
CA360598569 rs1374585583	17	S>G		No	ClinGen gnomAD
CA124182030 rs930589921	18	C>R		No	ClinGen TOPMed
rs1454314292 CA360598592	20	A>S		No	ClinGen gnomAD
CA360598605 rs1581112269	22	R>*		No	ClinGen Ensembl
rs747290879 CA3358499	23	S>G		No	ClinGen ExAC gnomAD
CA3358500 rs771138335	26	S>A		No	ClinGen ExAC gnomAD
rs199856250 CA3358501	27	V>I		No	ClinGen ExAC gnomAD
rs1195326474 CA360598654	30	R>G		No	ClinGen gnomAD
rs1581112567 CA360598656	30	R>K		No	ClinGen Ensembl
CA3358513 RCV000961626 rs114014768	31	F>Y		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA124182117 rs200926087	32	K>Q		No	ClinGen gnomAD
rs754897780 CA3358514	33	E>D		No	ClinGen ExAC gnomAD
CA3358515 rs764225314	35	T>A		No	ClinGen ExAC gnomAD
CA124182118 rs368145272	35	T>N		No	ClinGen ESP gnomAD
CA360598708 rs1428739936	36	R>G		No	ClinGen gnomAD
rs539783478 CA124182120	36	R>I		No	ClinGen Ensembl
CA360598711 rs1365555127	36	R>S		No	ClinGen TOPMed
rs539783478 CA124182119	36	R>T		No	ClinGen Ensembl
rs1055319357 CA360598714	37	P>S		No	ClinGen TOPMed gnomAD
rs1055319357 CA124182121	37	P>T		No	ClinGen TOPMed gnomAD
rs1470690578 CA360598761	43	L>R		No	ClinGen gnomAD
CA360598766 rs1329064623	44	G>A		No	ClinGen gnomAD
rs751643681 CA3358516	45	T>S		No	ClinGen ExAC TOPMed gnomAD
CA360598787 rs1464307885	48	P>S		No	ClinGen TOPMed gnomAD
CA360598786 rs1464307885	48	P>T		No	ClinGen TOPMed gnomAD
rs2230458 CA3358521	49	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3358520 RCV000952877 rs2230458 VAR_055694	49	V>L		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA124182122 rs772566153	50	V>A		No	ClinGen TOPMed gnomAD
rs140503241 CA124182123	51	P>S		No	ClinGen ESP TOPMed
CA3358524 rs774941196	52	I>T		No	ClinGen ExAC gnomAD
rs769287452 CA3358523	52	I>V		No	ClinGen ExAC gnomAD
TCGA novel	53	D>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs979885641 CA124182124	53	D>N		No	ClinGen gnomAD
rs200066052 CA3358525	54	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA360598831 rs1218642123	56	D>N		No	ClinGen gnomAD
rs201199380 CA3358527	58	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs201199380 CA3358526	58	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1260635898 CA360598865	61	I>V		No	ClinGen gnomAD
COSM3826496 COSM3826495 rs776407655 CA3358530	62	R>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA360598873 rs1199532511	62	R>H		No	ClinGen TOPMed gnomAD
rs1199532511 CA360598875	62	R>L		No	ClinGen TOPMed gnomAD
CA3358531 rs759259940	63	M>L		No	ClinGen ExAC gnomAD
CA360598885 rs1431366636	64	P>A		No	ClinGen TOPMed gnomAD
CA360598893 rs537531279	65	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs537531279 CA3358532	65	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3358535 rs757392901	68	P>L		No	ClinGen ExAC gnomAD
rs750713150 CA3358537	70	Q>P		No	ClinGen ExAC gnomAD
rs1474574346 CA360573151	71	S>T		No	ClinGen TOPMed gnomAD
rs1375376565 CA360573171	74	Y>H		No	ClinGen TOPMed
CA123831932 rs765607174	75	F>L		No	ClinGen TOPMed
rs1360689913 CA360573180	75	F>V		No	ClinGen gnomAD
rs1168179237 CA360573187	76	C>R		No	ClinGen gnomAD
rs1319362627 CA360573200	77	M>I		No	ClinGen gnomAD
CA3358562 rs754072884	77	M>T		No	ClinGen ExAC gnomAD
rs1265330086 CA360573207	78	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3358563 rs552041810	79	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3358564 rs552041810	79	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1233318771 CA360573215 COSM1059250 COSM1059251	80	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA3358565 rs753307443	80	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	81	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA123831971 rs777241437	81	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs771308346 CA123831970	81	I>T		No	ClinGen gnomAD
rs1445057506 CA360573231	83	V>L		No	ClinGen gnomAD
CA360573236 rs1581505810	84	D>N		No	ClinGen Ensembl
CA123831972 rs908238506	84	D>V		No	ClinGen Ensembl
CA123831987 rs939692788	87	A>D		No	ClinGen gnomAD
CA360573262 rs939692788	87	A>G		No	ClinGen gnomAD
COSM3661292 CA3358566 rs758827425 COSM3661293	87	A>T	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs778277403 CA3358567	88	F>C		No	ClinGen ExAC gnomAD
rs1354082143 CA360573273	89	V>A		No	ClinGen gnomAD
rs746515192 CA3358569	89	V>L		No	ClinGen ExAC TOPMed gnomAD
rs746515192 COSM1219167 COSM1219166 CA3358568	89	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs201408910 CA3358586	91	D>G		No	ClinGen ExAC gnomAD
CA3358587 rs778166481	94	P>A		No	ClinGen ExAC gnomAD
CA3358588 rs752070769	94	P>R		No	ClinGen ExAC gnomAD
rs201670392 CA3358589	95	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3358590 rs780661071	96	A>G		No	ClinGen ExAC gnomAD
rs1193264973 CA360575020	97	S>G		No	ClinGen TOPMed gnomAD
TCGA novel	97	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360575072 rs1474228690	101	V>I		No	ClinGen gnomAD
rs769437400 CA3358592	102	H>P		No	ClinGen ExAC gnomAD
TCGA novel	102	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368899584 CA123841605	104	M>L		No	ClinGen ESP
CA123841622 rs895419787	109	C>S		No	ClinGen TOPMed
rs1426715630 CA360575201	111	M>I		No	ClinGen TOPMed
rs1366967159 CA360575205	112	P>T		No	ClinGen TOPMed
CA123841649 rs868313758	113	S>L		No	ClinGen Ensembl
rs768454476 CA3358595	113	S>P		No	ClinGen ExAC TOPMed gnomAD
rs774193853 CA3358596	114	S>P		No	ClinGen ExAC TOPMed gnomAD
CA360575234 rs1401678430	115	T>S		No	ClinGen gnomAD
CA360575256 rs1298371174	117	S>R		No	ClinGen gnomAD
rs188721705 CA3358597	118	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
CA360575261 rs1397512721	118	Y>S		No	ClinGen gnomAD
rs1355665472 CA360575287	120	F>I		No	ClinGen gnomAD
TCGA novel	120	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1189495817 CA360575296	121	C>R		No	ClinGen TOPMed
CA123849967 rs972457576	122	D>N		No	ClinGen TOPMed gnomAD
rs769878323 CA3358619	124	G>R		No	ClinGen ExAC gnomAD
rs1178630672 CA360575352	127	T>A		No	ClinGen TOPMed gnomAD
CA3358620 rs775617960	127	T>I		No	ClinGen ExAC TOPMed gnomAD
rs931060307 CA123849984	129	K>T		No	ClinGen Ensembl
CA360575400 rs1446867984	131	N>S		No	ClinGen gnomAD
rs764426860 CA3358622	132	I>N		No	ClinGen ExAC TOPMed gnomAD
rs764426860 CA360575413	132	I>S		No	ClinGen ExAC TOPMed gnomAD
rs1258301025 CA360575409	132	I>V		No	ClinGen TOPMed
TCGA novel	133	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768032395 CA360575469	137	A>G		No	ClinGen ExAC TOPMed gnomAD
CA3358625 rs768032395	137	A>V		No	ClinGen ExAC TOPMed gnomAD
CA360575476 rs1187579447	138	R>K		No	ClinGen gnomAD
CA3358626 rs750886218	139	N>D		No	ClinGen ExAC gnomAD
rs1253215131 CA360575504	140	A>V		No	ClinGen gnomAD
CA3358629 rs753491201	141	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1313632493 CA360575523	142	P>L		No	ClinGen gnomAD
rs1313632493 CA360575521	142	P>R		No	ClinGen gnomAD
rs181340861 CA3358633	144	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3358632 RCV000909069 rs181340861	144	R>Q		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA3358631 rs778364854	144	R>W		No	ClinGen ExAC gnomAD
rs1340212688 CA360575553	146	P>A		No	ClinGen gnomAD
rs777884799 CA3358634	147	K>R		No	ClinGen ExAC TOPMed gnomAD
rs776029956 CA123851330	149	V>D		No	ClinGen Ensembl
rs1198330712 CA360575660	149	V>I		No	ClinGen gnomAD
CA123851365 rs763456543	152	R>S		No	ClinGen gnomAD
CA3358655 rs780927711	154	G>E		No	ClinGen ExAC gnomAD
CA3358654 rs757217194 CA360575715	154	G>R		No	ClinGen ExAC TOPMed gnomAD
rs749405857 CA3358656	155	G>R		No	ClinGen ExAC gnomAD
rs1443661313 CA360575742	156	E>D		No	ClinGen gnomAD
rs1376827174 CA360575761	158	G>V		No	ClinGen gnomAD
CA360575821 rs1290808604	163	V>I		No	ClinGen gnomAD
rs772482385 CA3358660	165	Q>*		No	ClinGen ExAC gnomAD
rs1347532137 CA360575839	165	Q>R		No	ClinGen gnomAD
rs773561165 CA3358661	167	H>R		No	ClinGen ExAC gnomAD
CA3358662 rs760879285	168	Y>C		No	ClinGen ExAC gnomAD
CA3358664 rs776956151	170	D>A		No	ClinGen ExAC gnomAD
rs536351235 CA3358663	170	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA3358665 rs759117198	172	S>G		No	ClinGen ExAC TOPMed gnomAD
CA3358666 rs141331459	173	A>T		No	ClinGen ESP ExAC gnomAD
rs752450079 CA3358667	174	F>L		No	ClinGen ExAC gnomAD
rs1387326959 CA360577645	176	D>E		No	ClinGen gnomAD
rs767784777 CA3358668	176	D>N		No	ClinGen ExAC TOPMed gnomAD
rs368097742 CA3358686	177	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1348265207 CA360577656	178	N>D		No	ClinGen gnomAD
rs1582025381 CA360577671	180	D>Y		No	ClinGen Ensembl
CA360577682 rs1332674258	181	C>F		No	ClinGen gnomAD
rs762918878 CA123814149	181	C>R		No	ClinGen Ensembl
CA360577681 rs1332674258	181	C>S		No	ClinGen gnomAD
CA360577689 rs762490535	182	S>F		No	ClinGen ExAC TOPMed gnomAD
rs762490535 CA3358688	182	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1201437458 CA360577703	185	S>P		No	ClinGen TOPMed
CA360577715 rs1211372636	187	H>N		No	ClinGen gnomAD
CA360577718 rs1582025690	187	H>P		No	ClinGen Ensembl
rs1445060014 CA360577725	188	L>F		No	ClinGen TOPMed gnomAD
rs1445060014 CA360577723	188	L>I		No	ClinGen TOPMed gnomAD
rs1561988158 CA360577733	189	T>R		No	ClinGen Ensembl
CA3358689 rs763855719	190	R>C		No	ClinGen ExAC TOPMed gnomAD
CA360577735 rs763855719	190	R>G		No	ClinGen ExAC TOPMed gnomAD
rs145099851 CA3358691 COSM1619279 COSM1619278	190	R>H	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA3358690 rs763855719	190	R>S		No	ClinGen ExAC TOPMed gnomAD
rs78753846 RCV000958542 CA3358692	192	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs78753846 CA3358693	192	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1582026039 CA360577745	192	P>S		No	ClinGen Ensembl
rs1216778690 CA360577768	194	P>A		No	ClinGen gnomAD
CA3358707 rs748835676	197	A>V		No	ClinGen ExAC gnomAD
rs186648161 CA3358708	198	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA3358709 rs774099234	199	M>R		No	ClinGen ExAC
CA801061804 rs1293324883	200	Y>*		No	ClinGen TOPMed
rs1463230144 CA360577804	200	Y>H		No	ClinGen gnomAD
rs1057160846 CA123816286	201	L>F		No	ClinGen Ensembl
rs778057180 CA360577817	202	M>L		No	ClinGen TOPMed gnomAD
rs778057180 CA123816287	202	M>V		No	ClinGen TOPMed gnomAD
rs934543988 CA123816301	203	M>I		No	ClinGen TOPMed gnomAD
rs1582045215 CA360577856	207	T>I		No	ClinGen Ensembl
CA3358712 rs772885566	210	P>S		No	ClinGen ExAC gnomAD
CA3358713 rs149429551	211	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1005005581 CA123816338	213	E>G		No	ClinGen TOPMed gnomAD
rs1015017069 CA123816359	215	V>M		No	ClinGen Ensembl
rs771635374 CA3358730	216	V>M		No	ClinGen ExAC gnomAD
CA360577931 rs1378904882	217	N>K		No	ClinGen gnomAD
rs1418699541 CA360577972	223	H>R		No	ClinGen gnomAD
CA3358731 rs772872132	224	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1451520877 CA360578011	228	P>L		No	ClinGen gnomAD
rs1561998437 CA360578007	228	P>T		No	ClinGen Ensembl
rs920557545 CA123817361	229	M>V		No	ClinGen Ensembl
CA3358733 rs770682634	230	H>N		No	ClinGen ExAC TOPMed gnomAD
rs1468098645 CA360578078	238	T>A		No	ClinGen gnomAD
CA123817405 rs1050506532	240	H>R		No	ClinGen Ensembl
rs761898981 CA3358738	240	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA3358739 rs767659383	241	L>S		No	ClinGen ExAC gnomAD
CA3358759 rs750728491	243	K>N		No	ClinGen ExAC gnomAD
CA3358761 rs201009674	244	V>A		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs760971736 CA3358760	244	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1344778345 CA360578133	245	V>I		No	ClinGen TOPMed
rs766639408 CA3358763	249	R>T		No	ClinGen ExAC gnomAD
rs972277991 CA123817773	255	W>L		No	ClinGen Ensembl
CA123817783 rs912071209	256	T>A		No	ClinGen TOPMed gnomAD
rs1224831295 CA360578210	256	T>K		No	ClinGen TOPMed
rs1256536395 CA360578216	257	L>P		No	ClinGen gnomAD
rs1256536395 CA360578215	257	L>Q		No	ClinGen gnomAD
CA3358766 rs755319362	258	I>T		No	ClinGen ExAC gnomAD
CA360578232 rs376009666	260	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3358768 COSM1059255 rs376009666 COSM1059254	260	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3358767 rs199746245	260	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1185150305 CA360578239	261	Q>H		No	ClinGen gnomAD
TCGA novel	262	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs986561885 CA123817793	263	P>T		No	ClinGen Ensembl
CA360578412 rs1160723694	269	F>L		No	ClinGen TOPMed gnomAD
TCGA novel	271	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752879030 CA123818571	271	P>S		No	ClinGen Ensembl
CA3358788 rs551663339	272	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA123818599 rs1045453819	273	G>E		No	ClinGen TOPMed
CA3358791 rs780857262	276	V>L		No	ClinGen ExAC gnomAD
rs755915818 CA3358793	277	D>G		No	ClinGen ExAC TOPMed gnomAD
rs745506725 CA3358792	277	D>N		No	ClinGen ExAC gnomAD
CA360578557 rs1231568902	278	V>A		No	ClinGen gnomAD
rs1369288541 CA360578546	278	V>I		No	ClinGen gnomAD
CA3358794 rs779890802	281	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3358795 rs748966205	282	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	283	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747114925 CA3358798	284	L>P		No	ClinGen ExAC gnomAD
CA3358797 rs774379347	284	L>V		No	ClinGen ExAC gnomAD
rs1562005324 CA360578633	285	A>G		No	ClinGen Ensembl
CA3358800 rs777042365	288	C>W		No	ClinGen ExAC gnomAD
rs560723457 CA3358801	289	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs765588739 CA3358802	291	T>I		No	ClinGen ExAC TOPMed gnomAD
rs765588739 CA123818697	291	T>S		No	ClinGen ExAC TOPMed gnomAD
rs763173202 CA3358804	294	G>R		No	ClinGen ExAC gnomAD
rs1377784681 CA360578875	296	T>K		No	ClinGen TOPMed gnomAD
CA360578878 rs1377784681	296	T>R		No	ClinGen TOPMed gnomAD
rs752026228 CA3358806	297	E>K		No	ClinGen ExAC gnomAD
CA360578992 rs1351734912	301	I>T		No	ClinGen gnomAD
CA3358826 rs148182169	304	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA3358827 rs148182169	304	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA3358829 rs368028632	305	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA360580865 rs1562038441	312	L>F		No	ClinGen Ensembl
rs1440989132 CA360580891	314	I>T		No	ClinGen gnomAD
rs749960265 CA3358830	314	I>V		No	ClinGen ExAC TOPMed gnomAD
rs200857453 CA123826217	315	M>T		No	ClinGen 1000Genomes
rs760052249 CA3358831	316	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs147370276 CA3358833	319	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1011132045 CA123826234	323	A>T		No	ClinGen Ensembl
rs754868257 CA3358834	323	A>V		No	ClinGen ExAC gnomAD
rs1023910255 CA360581095	325	S>F		No	ClinGen gnomAD
rs1023910255 CA123826237	325	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	326	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs969358918 CA123826245	328	T>A		No	ClinGen Ensembl
rs964565503 CA123826278	330	T>S		No	ClinGen TOPMed
CA360581202 rs1202629396	331	Q>L		No	ClinGen gnomAD
rs777515576 CA3358838	332	N>H		No	ClinGen ExAC gnomAD
CA360581346 rs769725394	337	M>K		No	ClinGen ExAC TOPMed gnomAD
CA3358840 rs769725394	337	M>T		No	ClinGen ExAC TOPMed gnomAD
COSM1732744 CA360581363 COSM1732745 rs1486211347	338	F>L	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1255565504 CA360581367	338	F>Y		No	ClinGen gnomAD
rs780367921 CA3358841	339	R>I		No	ClinGen ExAC gnomAD
CA360581410 rs1172067194	341	I>L		No	ClinGen gnomAD
rs749493621 CA123826312	342	P>A		No	ClinGen ExAC gnomAD
CA360581436 rs1562039574	342	P>L		No	ClinGen Ensembl
CA3358842 rs749493621	342	P>T		No	ClinGen ExAC gnomAD
rs774698634 CA3358844	343	P>S		No	ClinGen ExAC gnomAD
rs772653516 CA3358846	346	N>K		No	ClinGen ExAC gnomAD
CA3358847 rs773549904	348	P>A		No	ClinGen ExAC TOPMed gnomAD
rs773549904 CA360581524	348	P>T		No	ClinGen ExAC TOPMed gnomAD
CA360581541 rs1353059982	349	I>V		No	ClinGen gnomAD
rs1401720917 CA360581562	350	P>H		No	ClinGen gnomAD
rs61729214 CA3358849	351	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1562039943 CA360581613	353	S>Y		No	ClinGen Ensembl
rs1212591326 CA360581628	354	D>V		No	ClinGen TOPMed gnomAD
rs983280146 CA123826376	355	M>I		No	ClinGen Ensembl
CA360581643 rs1312980357	355	M>T		No	ClinGen TOPMed gnomAD
rs753602390 CA3358850	355	M>V		No	ClinGen ExAC gnomAD
rs759258064 CA3358852	356	V>F		No	ClinGen ExAC TOPMed gnomAD
rs759258064 CA3358851	356	V>I		No	ClinGen ExAC TOPMed gnomAD
CA360581669 rs1278245258	357	M>V		No	ClinGen gnomAD
CA360581725 rs1194970907	359	H>Q		No	ClinGen gnomAD
rs752554525 CA3358853	359	H>R		No	ClinGen ExAC gnomAD
CA123826433 rs924927079	360	E>*		No	ClinGen TOPMed
TCGA novel	360	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360581755 rs1242060363	361	H>L		No	ClinGen gnomAD
rs907685527 CA123826448	361	H>Y		No	ClinGen Ensembl
rs758220321 CA3358854	362	H>R		No	ClinGen ExAC gnomAD
rs1333488885 CA360582727	366	E>D		No	ClinGen TOPMed
CA3358872 rs763778000	367	Y>D		No	ClinGen ExAC TOPMed gnomAD
CA360582755 rs187560698	370	K>R		No	ClinGen 1000Genomes gnomAD
rs187560698 CA123827384	370	K>T		No	ClinGen 1000Genomes gnomAD
CA123827414 rs922828249	374	L>P		No	ClinGen TOPMed
CA360582845 rs1309377618	376	Q>H		No	ClinGen Ensembl
rs908822781 CA123827424	377	P>L		No	ClinGen Ensembl
rs940025012 CA123827436	379	R>Q		No	ClinGen Ensembl
rs1383677920 CA360582903	380	E>K		No	ClinGen gnomAD
rs1038296879 CA360582921	381	E>K		No	ClinGen gnomAD
rs1038296879 CA123827462	381	E>Q		No	ClinGen gnomAD
CA3358876 rs767427861	382	E>K		No	ClinGen ExAC gnomAD
CA360582964 rs1582215471	383	E>*		No	ClinGen Ensembl
CA3358878 rs371496728	384	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA3358877 rs371496728	384	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA360582982 rs1582215591	384	V>M		No	ClinGen Ensembl
CA3358880 rs748346231	387	Q>P		No	ClinGen ExAC gnomAD
CA360583043 rs748346231	387	Q>R		No	ClinGen ExAC gnomAD
rs751986721 CA3358906	388	G>D		No	ClinGen ExAC
rs758854114 CA3358881	388	G>S		No	ClinGen ExAC gnomAD
rs377439352 CA123838755 COSM3669356 COSM3669355	390	F>L	liver Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed
CA360586109 rs1420421974	391	Y>C		No	ClinGen TOPMed gnomAD
rs1394598915 CA360586141	393	L>P		No	ClinGen gnomAD
rs1354943778 CA360586198	395	S>C		No	ClinGen TOPMed gnomAD
rs781653482 CA3358908	395	S>P		No	ClinGen ExAC TOPMed gnomAD
CA360586215 rs1562095241	396	K>E		No	ClinGen Ensembl
rs111855745 CA3358909	396	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA360586242 rs1582403082	397	L>M		No	ClinGen Ensembl
rs769510291 CA3358910	399	G>A		No	ClinGen ExAC gnomAD
CA3358911 rs139660283	401	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3358912 rs749032375	402	E>K		No	ClinGen ExAC gnomAD
rs768032260 CA3358913	403	D>N		No	ClinGen ExAC gnomAD
CA360586426 rs1280384591	404	V>D		No	ClinGen gnomAD
CA360586421 rs1381281913	404	V>I		No	ClinGen Ensembl
rs1327451075 CA360586436	405	V>I		No	ClinGen gnomAD
rs1377961347 CA360586466	406	H>Q		No	ClinGen Ensembl
rs1276809189 CA360586462	406	H>R		No	ClinGen TOPMed
rs559246726 CA123838785	407	V>M		No	ClinGen 1000Genomes
CA123838787 rs149734778	408	H>R		No	ClinGen ESP TOPMed gnomAD
CA3358914 rs113748233	409	K>N		No	ClinGen ExAC TOPMed gnomAD
CA3358915 rs761619241	412	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3358916 rs772021374	413	T>A		No	ClinGen ExAC gnomAD
rs1192180786 CA360586563	414	E>K		No	ClinGen gnomAD
CA360586589 rs1230362224	415	K>M		No	ClinGen TOPMed
rs1371175559 CA360586626	420	S>T		No	ClinGen gnomAD
CA3358917 rs772935065	422	L>Q		No	ClinGen ExAC gnomAD
rs760467926 CA360586674	425	E>D		No	ClinGen ExAC gnomAD
rs1374876111 CA360586660	425	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs766228923 CA3358919	426	I>F		No	ClinGen ExAC gnomAD
CA360586682 rs1282096394	426	I>T		No	ClinGen TOPMed
CA3358920 rs752849300	427	A>E		No	ClinGen ExAC gnomAD
rs752849300 CA360586697	427	A>V		No	ClinGen ExAC gnomAD
CA360586700 rs191907390	428	N>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1382215819 CA360586706	428	N>S		No	ClinGen gnomAD
rs191907390 CA3358921	428	N>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1293858258 CA360586725	429	V>G		No	ClinGen gnomAD
CA360586766 rs1427814804	432	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs932205582 CA123838899	433	K>E		No	ClinGen Ensembl
COSM1541372 CA3358923 COSM1541373 rs751689373	433	K>N	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1235994663	433	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs757787164 CA3358924	434	D>G		No	ClinGen ExAC TOPMed gnomAD
rs757787164 CA3358925	434	D>V		No	ClinGen ExAC TOPMed gnomAD
CA360586797 rs1208090379	435	L>V		No	ClinGen gnomAD
rs1425303649 CA360586819	437	R>*		No	ClinGen TOPMed
rs750747001 CA360586827	437	R>L		No	ClinGen ExAC gnomAD
rs750747001 CA3358926	437	R>Q		No	ClinGen ExAC gnomAD
CA3358928 rs183999612	441	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373495667 CA3358929	442	E>D		No	ClinGen ESP ExAC gnomAD
CA123838941 rs911872280	442	E>Q		No	ClinGen Ensembl
CA123838968 rs556189733	444	A>T		No	ClinGen Ensembl
rs768389214 CA3358930	446	H>R		No	ClinGen ExAC gnomAD
CA360586938 rs1194442483	447	E>*		No	ClinGen gnomAD
rs778240163 CA3358931	448	R>K		No	ClinGen ExAC TOPMed gnomAD
rs778240163 CA123839007	448	R>M		No	ClinGen ExAC TOPMed gnomAD
rs778240163 CA360586946	448	R>T		No	ClinGen ExAC TOPMed gnomAD
rs935384800 CA123839013	449	G>D		No	ClinGen TOPMed
rs935384800 CA123839018	449	G>V		No	ClinGen TOPMed
CA123839034 rs1052389372	451	A>G		No	ClinGen TOPMed gnomAD
CA360586965 rs1052389372	451	A>V		No	ClinGen TOPMed gnomAD
rs145710876 CA3358932	452	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA3358934 rs571218167	452	I>S		No	ClinGen 1000Genomes ExAC gnomAD
rs145710876 CA3358933	452	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA360586982 rs1226429779	454	V>L		No	ClinGen gnomAD
rs1320311178 CA360587027	457	R>K		No	ClinGen TOPMed
CA360587062 rs1289539731	460	K>E		No	ClinGen TOPMed
rs1289539731 CA360587063	460	K>Q		No	ClinGen TOPMed
rs946815929 CA123839120	463	R>S		No	ClinGen TOPMed gnomAD
CA360587130 rs1442101614	464	L>P		No	ClinGen gnomAD
rs373372286 CA3358938	466	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs772486046 CA123839145	468	L>M		No	ClinGen Ensembl
CA3358939 rs144310649	468	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs144310649 CA3358940	468	L>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA360587189 rs1407432622	470	P>S		No	ClinGen TOPMed
CA360587202 rs1275252916	471	P>L		No	ClinGen TOPMed gnomAD
CA123839152 rs867781331	472	E>D		No	ClinGen Ensembl
CA360587306 rs1308478739	480	Q>K		No	ClinGen gnomAD
CA3358941 rs761985864	482	P>R		No	ClinGen ExAC gnomAD
CA3358942 rs376950366	483	P>S		No	ClinGen ESP ExAC gnomAD
rs1001847422 CA123839187	484	G>R		No	ClinGen Ensembl
rs1057085431 CA123839199	484	G>V		No	ClinGen TOPMed gnomAD
CA360587377 rs1469594852	486	G>S		No	ClinGen gnomAD
rs61736661 RCV000958544 CA3358946	491	E>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs766615993 CA3358945	491	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3358947 rs754530613	493	T>A		No	ClinGen ExAC gnomAD
rs114049029 CA3358948	493	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1414452954 COSM3661295 CA360587478 COSM3661294	494	G>R	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1270517214 CA360590169	496	F>L		No	ClinGen gnomAD
CA3358977 rs772448999	497	H>Y		No	ClinGen ExAC gnomAD
CA3358980 rs368149422	498	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs530993035 CA3358979	498	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA3358981 rs200635625	500	E>A		No	ClinGen 1000Genomes ExAC gnomAD
CA360590198 rs1449215981	500	E>D		No	ClinGen gnomAD
rs1367420421 CA360590210	502	L>R		No	ClinGen TOPMed
TCGA novel	502	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1696008 CA360590211 COSM1696007 rs1241854107	503	D>N	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs760011165 COSM481717 CA3358982 COSM481716	506	G>R	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA123853743 rs567819958	512	G>A		No	ClinGen 1000Genomes TOPMed
rs762542657 CA3358985	513	Q>*		No	ClinGen ExAC gnomAD
CA360590283 rs1402327898	513	Q>H		No	ClinGen gnomAD
rs201041480 CA123853765	514	V>I		No	ClinGen TOPMed gnomAD
CA3358987 rs751002194	518	A>T		No	ClinGen ExAC TOPMed gnomAD
rs780621020 CA3358989	519	L>V		No	ClinGen ExAC gnomAD
CA123853833 rs1804119	520	D>E		No	ClinGen TOPMed gnomAD
CA360590322 rs1562160434	520	D>G		No	ClinGen Ensembl
rs151297381 CA3358990	521	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3358992 rs779949733	522	K>N		No	ClinGen ExAC gnomAD
rs756040485 CA3358991	522	K>R		No	ClinGen ExAC gnomAD
rs1582635133 CA360590357	526	V>L		No	ClinGen Ensembl
rs749110876 CA3358993	529	H>L		No	ClinGen ExAC gnomAD
CA123853880 rs923564659	530	R>T		No	ClinGen Ensembl
rs772356278 CA3358995	531	G>C		No	ClinGen ExAC TOPMed gnomAD
CA3358994 rs772356278	531	G>R		No	ClinGen ExAC TOPMed gnomAD
rs772356278 CA360590391	531	G>S		No	ClinGen ExAC TOPMed gnomAD
CA360590394 rs1321948943	531	G>V		No	ClinGen TOPMed
CA3358996 rs747255186	533	H>R		No	ClinGen ExAC gnomAD
rs771021023 CA3358997	534	V>F		No	ClinGen ExAC gnomAD
CA360590420 rs1244435682	535	W>*		No	ClinGen TOPMed gnomAD
CA360590422 rs1244435682	535	W>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1235174616 CA360590427	536	D>Y		No	ClinGen gnomAD
CA123853991 rs868186246	537	G>E		No	ClinGen Ensembl
rs78408340 CA3359025	539	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA123862757 rs887987117	539	S>P		No	ClinGen Ensembl
rs78408340 CA3359024	539	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3359027 rs766046657	541	D>N		No	ClinGen ExAC gnomAD
CA360592289 rs1417106288	544	F>V		No	ClinGen TOPMed
CA3359028 rs753806335	546	Y>C		No	ClinGen ExAC gnomAD
CA360592390 rs1374055613	547	Q>R		No	ClinGen TOPMed
rs755006071 CA3359029	548	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs765085875 CA3359031	549	I>R		No	ClinGen ExAC TOPMed gnomAD
rs765085875 CA3359030	549	I>T		No	ClinGen ExAC TOPMed gnomAD
rs757442246 CA3359032	550	G>R		No	ClinGen ExAC TOPMed gnomAD
rs781273537 CA3359033	551	L>F		No	ClinGen ExAC gnomAD
CA360592478 COSM1219168 rs1422213683 COSM1219169	552	G>E	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA3359035 rs201249509	552	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA123862886 rs751621944	553	P>Q		No	ClinGen Ensembl
rs1475924607 CA360592508	554	I>M		No	ClinGen TOPMed
rs150469595 CA3359036	554	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1172097021 CA360592537	556	E>V		No	ClinGen Ensembl
rs1368716536 CA360592560	557	D>A		No	ClinGen gnomAD
rs1254907379 CA360592558	557	D>H		No	ClinGen TOPMed
rs138392424 CA3359038	558	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1438691022 CA360592591	558	T>S		No	ClinGen TOPMed
CA360592599 rs1375370204	559	I>V		No	ClinGen gnomAD
rs375869205 CA123862898	560	L>F		No	ClinGen ESP
CA123862896 rs375869205	560	L>V		No	ClinGen ESP
rs748469656 CA360592649 CA360592646	562	I>L		No	ClinGen ExAC TOPMed gnomAD
CA360592660 rs1320668407	562	I>M		No	ClinGen TOPMed gnomAD
rs748469656 CA3359040	562	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1227648265 CA360592679	563	D>E		No	ClinGen gnomAD
CA3359041 rs35658696	563	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA360592693 rs1235173932	564	P>L		No	ClinGen TOPMed
CA3359042 rs772728053	566	N>D		No	ClinGen ExAC gnomAD
CA360592746 rs1353670142	570	L>H		No	ClinGen TOPMed
rs1353670142 CA360592747	570	L>P		No	ClinGen TOPMed
rs1339370972 CA360592755	571	Q>H		No	ClinGen gnomAD
rs1582789007 CA360592754	571	Q>P		No	ClinGen Ensembl
rs1280500459 CA360592766	573	S>N		No	ClinGen gnomAD
CA360592783 rs1330623687	575	K>N		No	ClinGen TOPMed
rs760406279	576	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360592790 rs1198688564	576	N>S		No	ClinGen gnomAD
rs1263540021 CA360592794	577	L>M		No	ClinGen gnomAD
TCGA novel	580	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1193510376 CA360592839	581	P>R		No	ClinGen gnomAD
CA360592836 rs1219190262	581	P>S		No	ClinGen TOPMed
rs1046509908 CA123863862	582	H>N		No	ClinGen TOPMed gnomAD
CA3359058 rs748750559	583	G>D		No	ClinGen ExAC gnomAD
CA360592862 rs1279422130	585	S>N		No	ClinGen TOPMed
rs146925861 CA360592893	589	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs146925861 CA3359059	589	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs770731012 CA360592916	592	Y>C		No	ClinGen ExAC gnomAD
CA3359062 rs770731012	592	Y>F		No	ClinGen ExAC gnomAD
rs372446275 CA3359061	592	Y>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	593	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3359064 rs759122085	595	T>A		No	ClinGen ExAC gnomAD
COSM1219173 COSM1219172 rs150662320 CA3359066	597	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA360592990 rs1421228463	598	A>P		No	ClinGen TOPMed
CA3359067 rs376782807	599	L>V		No	ClinGen ESP ExAC gnomAD
rs752845796 CA3359094	605	L>R		No	ClinGen ExAC gnomAD
CA360578727 rs1260216447	606	D>N		No	ClinGen gnomAD
CA360578752 rs1273553940	607	P>A		No	ClinGen gnomAD
TCGA novel	608	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764701703 CA3359096	609	N>K		No	ClinGen ExAC gnomAD
CA360578823 rs1412144636	610	K>E		No	ClinGen gnomAD
CA360578865 rs1172129293	612	G>D		No	ClinGen gnomAD
CA3359097 rs752176383	612	G>S		No	ClinGen ExAC gnomAD
rs1302891954 CA360578888	614	V>I		No	ClinGen TOPMed
rs1302891954 CA360578890	614	V>L		No	ClinGen TOPMed
CA360578931 rs1428555201	615	L>F		No	ClinGen gnomAD
rs745482590 CA3359100	621	M>T		No	ClinGen ExAC gnomAD
rs755818448 CA3359101	623	P>L		No	ClinGen ExAC gnomAD
rs1302019398 CA360579088	624	G>S		No	ClinGen gnomAD
TCGA novel	625	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3359103 rs748840563	627	Q>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	632	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748137547 CA3359106	636	V>A		No	ClinGen ExAC gnomAD
rs553935216 CA123813571	636	V>M		No	ClinGen Ensembl
CA360579205 rs1210060465	637	A>V		No	ClinGen gnomAD
rs200139987 CA3359108	638	V>G		No	ClinGen ExAC gnomAD
rs771827112 CA3359107	638	V>L		No	ClinGen ExAC TOPMed gnomAD
rs759631014 CA3359109	639	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1390388916 CA360579224	640	P>L		No	ClinGen gnomAD
rs765510948 CA3359110	640	P>T		No	ClinGen ExAC
rs775364358 CA3359111	641	G>R		No	ClinGen ExAC gnomAD
TCGA novel	642	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3359112 rs763082368	644	A>T		No	ClinGen ExAC gnomAD
CA360579269 rs1582833328	647	V>A		No	ClinGen Ensembl
CA360579276 rs1269403368	648	S>L		No	ClinGen TOPMed gnomAD
rs1357158902 CA360579288	650	G>D		No	ClinGen gnomAD
CA360579304 rs1289302005	652	C>*		No	ClinGen gnomAD
CA3359115 rs757875110	652	C>R		No	ClinGen ExAC TOPMed gnomAD
CA360579299 rs757875110	652	C>S		No	ClinGen ExAC TOPMed gnomAD
rs767949363 CA3359116	654	S>I		No	ClinGen ExAC gnomAD
CA360579337 rs1305661299	657	V>M		No	ClinGen gnomAD
rs755661759 CA3359118	660	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs912577593 CA123813654	661	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA360579366 rs912577593	661	P>R		No	ClinGen gnomAD
CA123813661 rs944020541	662	S>R		No	ClinGen Ensembl
rs144048598 CA3359121	664	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	666	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1213548036 CA360579406	667	T>R		No	ClinGen TOPMed
CA360579425 rs1434654033	670	G>R		No	ClinGen gnomAD
rs913284105 CA123813677	671	E>G		No	ClinGen Ensembl
rs1410870946 CA360579466	674	S>A		No	ClinGen gnomAD
CA3359142 rs778346197	674	S>L		No	ClinGen ExAC gnomAD
CA3359143 rs148652099	675	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	675	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141371288 CA3359144	676	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1321645084 CA360579484	677	S>N		No	ClinGen gnomAD
CA123814146 rs1006981033	678	P>R		No	ClinGen TOPMed
rs1356372889 CA360579505	681	G>S		No	ClinGen TOPMed gnomAD
rs1019735559 CA123814147	683	F>I		No	ClinGen Ensembl
CA3359145 rs777761223	684	T>A		No	ClinGen ExAC TOPMed gnomAD
CA360579537 rs1288273177	686	P>S		No	ClinGen gnomAD
rs1348952465 CA360579549	687	H>Q		No	ClinGen gnomAD
CA360579555 rs1235529352	688	S>I		No	ClinGen gnomAD
rs1235529352 CA360579556	688	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs965639294 CA360579558	688	S>R		No	ClinGen TOPMed gnomAD
CA360579569 rs1482885260	690	A>V		No	ClinGen TOPMed
CA3359147 rs770736888	693	P>L		No	ClinGen ExAC TOPMed gnomAD
CA360579591 rs1222991271	694	L>F		No	ClinGen TOPMed
rs769017819 CA3359150	698	L>F		No	ClinGen ExAC gnomAD
CA360579624 rs1250971902	699	C>G		No	ClinGen gnomAD
TCGA novel	699	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774512034 CA3359151	699	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs761985852 CA3359152	701	A>T		No	ClinGen ExAC gnomAD
CA360579645 rs1368884890	702	D>A		No	ClinGen gnomAD
CA3359155 rs761130902	703	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs368301013 CA3359154	703	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA360579651 rs1307557679	704	E>K		No	ClinGen gnomAD
CA360579666 rs759131026	705	N>K		No	ClinGen ExAC gnomAD
CA3359159 rs538941587	706	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs186632214 COSM200007 CA3359161 COSM200008	707	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA3359160 rs752414913	707	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA360579676 rs1282084675	708	I>V		No	ClinGen gnomAD
rs751482504 CA3359163	714	D>Y		No	ClinGen ExAC gnomAD
rs1212962888 CA360579729	715	T>A		No	ClinGen TOPMed gnomAD
CA123814254 rs773878299	716	K>E		No	ClinGen TOPMed
CA3359166 rs745666816	717	E>G		No	ClinGen ExAC TOPMed gnomAD
CA360579752 rs1185614974	718	F>S		No	ClinGen gnomAD
CA3359168 rs144216702	719	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs768930010 CA3359167	719	V>M		No	ClinGen ExAC gnomAD
rs1168015789 CA360579762	720	R>K		No	ClinGen gnomAD
rs748433228 CA3359170	724	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA3359171 rs773199980	727	F>C		No	ClinGen ExAC gnomAD
rs771355805 CA3359173	728	G>E		No	ClinGen ExAC gnomAD
CA3359172 rs200453170	728	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA123814291 rs146545390	729	R>G		No	ClinGen ESP
rs776987912 CA3359174	729	R>K		No	ClinGen ExAC gnomAD
rs1472363751 CA360579827	729	R>S		No	ClinGen TOPMed
rs1366877774 CA360579835	730	N>K		No	ClinGen gnomAD
rs1430272700 CA360579839	731	V>L		No	ClinGen TOPMed
rs1199802726 CA360579854	733	A>E		No	ClinGen TOPMed
rs1296164726 CA360579857	734	I>L		No	ClinGen gnomAD
TCGA novel	734	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	734	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA123814294 rs930936152	735	S>A		No	ClinGen Ensembl
rs555031278 CA3359178	737	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3359177 rs775101043	737	I>T		No	ClinGen ExAC gnomAD
rs1344291819 CA360579883	738	P>A		No	ClinGen TOPMed gnomAD
CA360579882 rs1344291819	738	P>T		No	ClinGen TOPMed gnomAD
rs1231009331 CA360580259	739	G>A		No	ClinGen gnomAD
CA360580257 rs1231009331	739	G>D		No	ClinGen gnomAD
CA360580261 rs1231009331	739	G>V		No	ClinGen gnomAD
rs1188475104 CA360580315	744	V>A		No	ClinGen TOPMed
CA3359193 rs771110817	744	V>M		No	ClinGen ExAC gnomAD
CA360580322 rs1208283399	745	N>S		No	ClinGen gnomAD
CA360580325 rs1266460610	746	G>R		No	ClinGen gnomAD
rs777111115 CA3359194	750	F>S		No	ClinGen ExAC TOPMed gnomAD
CA3359195 rs746420918	751	G>E		No	ClinGen ExAC gnomAD
CA360580361 rs1208497282	751	G>R		No	ClinGen TOPMed
rs1582868817 CA360580369	752	D>Y		No	ClinGen Ensembl
CA3359196 rs770112116	755	P>L		No	ClinGen ExAC gnomAD
rs762543056 CA3359198	756	V>A		No	ClinGen ExAC gnomAD
CA360580471 rs1413073496	759	F>L		No	ClinGen gnomAD
rs375364507 CA3359199	759	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	761	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3359200 rs773840784	762	N>K		No	ClinGen ExAC TOPMed gnomAD
CA360580527 rs1562235756	763	F>L		No	ClinGen Ensembl
COSM1059266 COSM1059267 rs1385984412 CA360580548	764	S>F	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA360580545 rs1385984412	764	S>Y		No	ClinGen TOPMed gnomAD
CA3359201 rs761221053	765	N>S		No	ClinGen ExAC TOPMed gnomAD
CA360580584 rs1293555905	767	E>D		No	ClinGen gnomAD
TCGA novel	767	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1389431016 CA360580595	768	I>T		No	ClinGen TOPMed gnomAD
CA360580610 rs2230457	769	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767111016 CA3359202	769	I>T		No	ClinGen ExAC TOPMed gnomAD
CA123815845 rs986154679	770	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs756154455 CA3359204	770	D>E		No	ClinGen ExAC gnomAD
CA360580627 rs1395820667	771	I>V		No	ClinGen TOPMed
CA3359205 rs766231657	772	F>L		No	ClinGen ExAC gnomAD
CA360580666 rs1286272649	774	P>T		No	ClinGen gnomAD
rs758579994 CA3359207	775	V>A		No	ClinGen ExAC gnomAD
rs1245825751 CA360580681	775	V>L		No	ClinGen gnomAD
COSM1431990 rs200646882 CA3359209 COSM1431989	776	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3359210 rs757260560	776	R>H		No	ClinGen ExAC TOPMed gnomAD
rs757260560 CA360580703	776	R>L		No	ClinGen ExAC TOPMed gnomAD
CA360580724 rs1180429071	777	K>T		No	ClinGen gnomAD
rs930798266 CA123821239	778	H>Y		No	ClinGen TOPMed gnomAD
TCGA novel	781	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753894215 CA3359225	782	P>L		No	ClinGen ExAC gnomAD
CA3359226 rs759238953	784	D>H		No	ClinGen ExAC gnomAD
CA123821280 rs1049355499	785	I>T		No	ClinGen TOPMed
rs376133594 CA3359228	787	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA360582130 rs1168411599	789	E>K		No	ClinGen TOPMed
rs199658261 CA123821299	791	G>E		No	ClinGen 1000Genomes
TCGA novel	792	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1360624986 CA360582249	794	Y>*		No	ClinGen gnomAD
CA3359230 rs375271861	795	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750515091 CA3359231	795	I>T		No	ClinGen ExAC gnomAD
rs375271861 CA123821314	795	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA360582311 rs1377207526	799	H>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA360582312 rs1377207526	799	H>Y		No	ClinGen gnomAD
rs1298375699 CA360582336	800	T>N		No	ClinGen gnomAD
CA3359233 rs780531887	802	T>N		No	ClinGen ExAC TOPMed gnomAD
CA3359235 rs190523734	803	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747708755 CA3359237	804	W>*		No	ClinGen ExAC gnomAD
rs1254678605 CA360582389	804	W>R		No	ClinGen gnomAD
TCGA novel	807	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3359238 rs771867797	807	T>I		No	ClinGen ExAC gnomAD
rs1562259982 CA360582468	809	T>S		No	ClinGen Ensembl
CA360582474 rs1448362162	809	T>S		No	ClinGen gnomAD
CA360583196 rs1268352047	812	L>S		No	ClinGen gnomAD
CA360583218 rs1393552543	815	R>*		No	ClinGen TOPMed
rs759560994 CA3359245	815	R>P		No	ClinGen ExAC gnomAD
CA360583219 rs759560994	815	R>Q	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1490575082 CA360583232	817	V>A		No	ClinGen Ensembl
CA3359246 rs201753852	818	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs868594150 CA123823112	820	A>D		No	ClinGen Ensembl
CA360583265 rs1331260223	820	A>T		No	ClinGen TOPMed
TCGA novel	820	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360583354 rs1396770754	826	E>G		No	ClinGen TOPMed
rs376556652 CA3359247	827	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1159716099 CA360583387	828	K>N		No	ClinGen TOPMed gnomAD
rs1473443416 CA360583383	828	K>R		No	ClinGen TOPMed gnomAD
rs763932104 CA3359268	831	E>K		No	ClinGen ExAC TOPMed gnomAD
rs763932104 CA360584025	831	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA3359269 rs773397667	836	T>N		No	ClinGen ExAC TOPMed
CA360584340 rs1439500536	843	T>S		No	ClinGen gnomAD
CA123827317 rs952243861	852	E>D		No	ClinGen TOPMed
rs1026478290 CA123827315	852	E>K		No	ClinGen TOPMed gnomAD
CA123827327 rs112455818	853	K>R		No	ClinGen gnomAD
rs112455818 CA360584585	853	K>T		No	ClinGen gnomAD
TCGA novel	855	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3359272 rs143756698	860	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs964946277 CA123827356	861	G>D		No	ClinGen TOPMed gnomAD
CA3359273 rs755377607	862	S>L		No	ClinGen ExAC TOPMed gnomAD
CA123827369 rs923300383	864	V>M		No	ClinGen TOPMed gnomAD
rs1238262104 CA360584827	866	V>A		No	ClinGen gnomAD
rs1471545731 CA360584816	866	V>I		No	ClinGen TOPMed
CA360584851 rs1250961473	868	L>F		No	ClinGen TOPMed
CA3359276 rs200016863	868	L>R		No	ClinGen 1000Genomes ExAC
rs1452832623 CA360584913	870	T>R		No	ClinGen TOPMed
rs778325139 CA3359277	871	T>I		No	ClinGen ExAC gnomAD
rs201324430 CA3359280	873	L>P		No	ClinGen ExAC gnomAD
CA3359279 rs746622238	873	L>V		No	ClinGen ExAC TOPMed gnomAD
CA123827415 rs978229239	874	V>A		No	ClinGen TOPMed
CA360585017 rs978229239	874	V>G		No	ClinGen TOPMed
rs745384454 CA3359281	875	I>S		No	ClinGen ExAC gnomAD
CA3359282 rs75521858	876	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs749271236 CA3359284	877	V>L		No	ClinGen ExAC TOPMed gnomAD
rs147753142 CA3359285	880	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3359286 rs774155541	882	A>D		No	ClinGen ExAC gnomAD
rs1401434994 CA360585175	882	A>T		No	ClinGen TOPMed
rs202230249 CA3359287	883	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3359288 rs766628985	884	A>T		No	ClinGen ExAC gnomAD
CA360585245 rs1337440549	885	I>V		No	ClinGen gnomAD
rs376124243 CA3359290	888	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3359289 rs371136481	888	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA3359292 rs765285558	890	K>R		No	ClinGen ExAC TOPMed gnomAD
rs774095881 CA123827529	891	K>I		No	ClinGen Ensembl
CA3359293 rs753227077	892	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA123827543 rs983638051	892	S>P		No	ClinGen Ensembl
CA360585402 rs983638051	892	S>T		No	ClinGen Ensembl
rs1177056426 CA360585420	893	R>T		No	ClinGen TOPMed
rs1478977284 CA360585440	894	A>V		No	ClinGen TOPMed
CA360585472 rs1256692881	896	G>E		No	ClinGen TOPMed gnomAD
CA3359294 rs759007766	897	D>N		No	ClinGen ExAC gnomAD
CA3359326 rs200219181	899	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1157920560 CA360586733	900	H>L		No	ClinGen gnomAD
TCGA novel	900	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1472690855 CA360586727	900	H>Y		No	ClinGen gnomAD
CA360586755 rs1361495181	902	L>I		No	ClinGen gnomAD
rs778809891 CA3359327	902	L>P		No	ClinGen ExAC gnomAD
rs771873156 COSM3826504 CA3359329	903	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
COSM1431998 rs113740014 CA3359330	904	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA360586788 rs113740014	904	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3359332 rs543056414	907	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA360586840 rs1301959238	909	V>I		No	ClinGen TOPMed gnomAD
rs775640951 CA360586852	910	L>V		No	ClinGen ExAC gnomAD
rs1377418825 CA360586898	914	R>G		No	ClinGen TOPMed
rs763117523 CA3359334	914	R>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	915	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA123829815 rs768911406 CA3359335	915	G>R		No	ClinGen ExAC gnomAD
rs137865834 CA3359357	917	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs137865834 CA3359358	917	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA360587033 rs1562296115 COSM1696010	919	G>R	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA3359360 rs573333374	920	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs201706500 CA123830326	921	L>*		No	ClinGen Ensembl
CA360587076 rs1167995160	922	N>T		No	ClinGen gnomAD
CA360587074 rs1487971572	922	N>Y		No	ClinGen TOPMed
rs760172098 CA123830328	924	G>A		No	ClinGen Ensembl
CA360587099 rs1258321137	924	G>S		No	ClinGen TOPMed
CA3359362 rs539266448	925	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA3359363 rs776239193	925	N>I		No	ClinGen ExAC gnomAD
rs764680594 CA3359366 CA3359365	927	F>L		No	ClinGen ExAC TOPMed gnomAD
CA3359368 rs201038282	928	A>E		No	ClinGen ExAC gnomAD
CA3359367 rs758286741	928	A>T		No	ClinGen ExAC TOPMed
rs751569153 CA3359370 COSM1219171	930	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs375491118 CA3359371	930	R>H		No	ClinGen ESP ExAC TOPMed
rs1213358388 CA360587188	931	K>*		No	ClinGen gnomAD
CA3359372 rs781172865	931	K>M		No	ClinGen ExAC gnomAD
rs749480659 CA3359373	932	G>S		No	ClinGen ExAC TOPMed gnomAD
rs755271884 CA3359374	932	G>V		No	ClinGen ExAC gnomAD
rs369667890 CA3359375	933	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs748174892 CA3359377 COSM1671789	935	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs748174892 CA3359376	935	R>G		No	ClinGen ExAC gnomAD
rs773572053 CA3359378 COSM1432000	935	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3359379 rs756178147	937	G>R		No	ClinGen ExAC gnomAD
CA3359380 rs771248845	939	D>V		No	ClinGen ExAC gnomAD
rs759133083 CA123830511	940	R>P		No	ClinGen ExAC TOPMed gnomAD
CA3359382 rs759133083	940	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777006635 CA3359381	940	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	942	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA360587356 rs1312982434	943	T>I		No	ClinGen TOPMed
rs775276077 CA3359384	946	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1333170336 CA360587418	948	Q>E		No	ClinGen TOPMed
rs1427421130 CA360587423	948	Q>P		No	ClinGen gnomAD
rs762353428 CA3359385	949	E>D		No	ClinGen ExAC gnomAD
rs558977904 CA123830550	951	E>K		No	ClinGen 1000Genomes gnomAD
CA123830552 rs911307541	952	D>N		No	ClinGen gnomAD
rs866514172 CA123830556	953	D>N		No	ClinGen Ensembl
CA123830563 rs979394002	956	E>Q		No	ClinGen TOPMed
CA3359390 rs201307023	957	S>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1281832945 CA360587529	957	S>T		No	ClinGen gnomAD
rs1284266812 CA360587550	960	E>K		No	ClinGen gnomAD
rs1248380729 CA360587587	965	L>P		No	ClinGen gnomAD
rs1248380729 CA360587586	965	L>Q		No	ClinGen gnomAD
rs1198362622 CA360587591	966	P>S		No	ClinGen gnomAD
rs778992360 COSM1059274 CA3359393	967	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3359395 rs377141909	969	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA360587613 rs1205502048	970	P>S		No	ClinGen TOPMed
CA3359397 rs747469558	971	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777944300 CA3359396	971	S>P		No	ClinGen ExAC TOPMed gnomAD
CA3359398 rs771444744	974	S>R		No	ClinGen ExAC gnomAD

No associated diseases with P19021

8 regional properties for P19021

Type	Name	Position	InterPro Accession
domain	Copper type II, ascorbate-dependent monooxygenase, N-terminal	60 - 171	IPR000323
repeat	NHL repeat	567 - 608	IPR001258-1
repeat	NHL repeat	617 - 662	IPR001258-2
repeat	NHL repeat	670 - 714	IPR001258-3
repeat	NHL repeat	766 - 809	IPR001258-4
conserved_site	Copper type II, ascorbate-dependent monooxygenase, histidine-cluster-2 conserved site	230 - 242	IPR014783
conserved_site	Copper type II, ascorbate-dependent monooxygenase, histidine-cluster-1 conserved site	102 - 109	IPR020611
domain	Copper type II ascorbate-dependent monooxygenase, C-terminal	197 - 340	IPR024548

Functions

		Description
EC Number	1.14.17.3	With reduced ascorbate as one donor, and incorporation of one atom of oxygen
Subcellular Localization	Cytoplasmic vesicle, secretory vesicle membrane ; Single-pass membrane protein	Secretory granules
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

12 GO annotations of cellular component

Name	Definition
cell surface	The external part of the cell wall and/or plasma membrane.
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.
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.
neuron projection	A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
perikaryon	The portion of the cell soma (neuronal cell body) that excludes the nucleus.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
secretory granule membrane	The lipid bilayer surrounding a secretory granule.
trans-Golgi network	The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination.
transport vesicle membrane	The lipid bilayer surrounding a transport vesicle.

8 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).
copper ion binding	Binding to a copper (Cu) ion.
identical protein binding	Binding to an identical protein or proteins.
L-ascorbic acid binding	Binding to L-ascorbic acid, (2R)-2-[(1S)-1,2-dihydroxyethyl]-4-hydroxy-5-oxo-2,5-dihydrofuran-3-olate; L-ascorbic acid is vitamin C and has co-factor and anti-oxidant activities in many species.
peptidylamidoglycolate lyase activity	Catalysis of the reaction: peptidylamidoglycolate = peptidyl amide + glyoxylate.
peptidylglycine monooxygenase activity	Catalysis of the reaction: peptidyl-glycine + ascorbate + O2 = peptidyl(2-hydroxyglycine) + dehydroascorbate + H2O.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
zinc ion binding	Binding to a zinc ion (Zn).

22 GO annotations of biological process

Name	Definition
central nervous system development	The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord.
fatty acid primary amide biosynthetic process	The chemical reactions and pathways resulting in the formation of a fatty acid primary amide.
heart development	The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.
lactation	The regulated release of milk from the mammary glands and the period of time that a mother lactates to feed her young.
limb development	The process whose specific outcome is the progression of a limb over time, from its formation to the mature structure. A limb is an appendage of an animal used for locomotion or grasping. Examples include legs, arms or some types of fin.
long-chain fatty acid metabolic process	The chemical reactions and pathways involving long-chain fatty acids, A long-chain fatty acid is a fatty acid with a chain length between C13 and C22.
maternal process involved in female pregnancy	A reproductive process occurring in the mother that allows an embryo or fetus to develop within it.
odontogenesis	The process whose specific outcome is the progression of a tooth or teeth over time, from formation to the mature structure(s). A tooth is any hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food.
ovulation cycle process	A process involved in the sexual cycle seen in females, often with physiologic changes in the endometrium that recur at regular intervals during the reproductive years.
peptide amidation	The posttranslational conversion of C-terminal glycine-extended peptides to C-terminal alpha-amidated peptides. Occurs to over half of all peptide hormones to give bioactive peptides. This is a two step process catalyzed by a peptidyl-glycine alpha-hydroxylating monooxygenase and a peptidyl-alpha-hydroxyglycine alpha-amidating lyase. In some organisms, this process is catalyzed by two separate enzymes, whereas in higher organisms, one polypeptide catalyzes both reactions.
protein amidation	Addition of an amide group from a glycine to a protein amino acid.
regulation of actin cytoskeleton organization	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
regulation of protein secretion	Any process that modulates the frequency, rate or extent of the controlled release of a protein from a cell.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
response to copper ion	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 copper ion stimulus.
response to estradiol	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 stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen.
response to glucocorticoid	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 glucocorticoid stimulus. Glucocorticoids are hormonal C21 corticosteroids synthesized from cholesterol with the ability to bind with the cortisol receptor and trigger similar effects. Glucocorticoids act primarily on carbohydrate and protein metabolism, and have anti-inflammatory effects.
response to hypoxia	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 indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.
response to pH	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 pH stimulus. pH is a measure of the acidity or basicity of an aqueous solution.
response to xenobiotic stimulus	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 xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
response to zinc ion	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 zinc ion stimulus.
toxin metabolic process	The chemical reactions and pathways involving a toxin, a poisonous compound (typically a protein) that is produced by cells or organisms and that can cause disease when introduced into the body or tissues of an organism.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P97467	Pam	Peptidyl-glycine alpha-amidating monooxygenase	Mus musculus (Mouse)	PR
P14925	Pam	Peptidylglycine alpha-amidating monooxygenase	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAGRVPSLLV	LLVFPSSCLA	FRSPLSVFKR	FKETTRPFSN	ECLGTTRPVV	PIDSSDFALD
70	80	90	100	110	120
IRMPGVTPKQ	SDTYFCMSMR	IPVDEEAFVI	DFKPRASMDT	VHHMLLFGCN	MPSSTGSYWF
130	140	150	160	170	180
CDEGTCTDKA	NILYAWARNA	PPTRLPKGVG	FRVGGETGSK	YFVLQVHYGD	ISAFRDNNKD
190	200	210	220	230	240
CSGVSLHLTR	LPQPLIAGMY	LMMSVDTVIP	AGEKVVNSDI	SCHYKNYPMH	VFAYRVHTHH
250	260	270	280	290	300
LGKVVSGYRV	RNGQWTLIGR	QSPQLPQAFY	PVGHPVDVSF	GDLLAARCVF	TGEGRTEATH
310	320	330	340	350	360
IGGTSSDEMC	NLYIMYYMEA	KHAVSFMTCT	QNVAPDMFRT	IPPEANIPIP	VKSDMVMMHE
370	380	390	400	410	420
HHKETEYKDK	IPLLQQPKRE	EEEVLDQGDF	YSLLSKLLGE	REDVVHVHKY	NPTEKAESES
430	440	450	460	470	480
DLVAEIANVV	QKKDLGRSDA	REGAEHERGN	AILVRDRIHK	FHRLVSTLRP	PESRVFSLQQ
490	500	510	520	530	540
PPPGEGTWEP	EHTGDFHMEE	ALDWPGVYLL	PGQVSGVALD	PKNNLVIFHR	GDHVWDGNSF
550	560	570	580	590	600
DSKFVYQQIG	LGPIEEDTIL	VIDPNNAAVL	QSSGKNLFYL	PHGLSIDKDG	NYWVTDVALH
610	620	630	640	650	660
QVFKLDPNNK	EGPVLILGRS	MQPGSDQNHF	CQPTDVAVDP	GTGAIYVSDG	YCNSRIVQFS
670	680	690	700	710	720
PSGKFITQWG	EESSGSSPLP	GQFTVPHSLA	LVPLLGQLCV	ADRENGRIQC	FKTDTKEFVR
730	740	750	760	770	780
EIKHSSFGRN	VFAISYIPGL	LFAVNGKPHF	GDQEPVQGFV	MNFSNGEIID	IFKPVRKHFD
790	800	810	820	830	840
MPHDIVASED	GTVYIGDAHT	NTVWKFTLTE	KLEHRSVKKA	GIEVQEIKEA	EAVVETKMEN
850	860	870	880	890	900
KPTSSELQKM	QEKQKLIKEP	GSGVPVVLIT	TLLVIPVVVL	LAIAIFIRWK	KSRAFGDSEH
910	920	930	940	950	960
KLETSSGRVL	GRFRGKGSGG	LNLGNFFASR	KGYSRKGFDR	LSTEGSDQEK	EDDGSESEEE
970
YSAPLPALAP	SSS