AiPD: Autoinhibited Protein Database

Q9NPA2

Gene name	MMP25 (MMP20, MMPL1, MT6MMP)
Protein name	Matrix metalloproteinase-25
Names	MMP-25, Leukolysin, Membrane-type matrix metalloproteinase 6, MT-MMP 6, MTMMP6, Membrane-type-6 matrix metalloproteinase, MT6-MMP, MT6MMP
Species	Homo sapiens (Human)
KEGG Pathway	hsa:64386
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

4-76 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

4-76 (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 Q9NPA2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9NPA2-F1	Predicted				AlphaFoldDB

683 variants for Q9NPA2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA276893400 rs961456599	2	R>W		No	ClinGen TOPMed gnomAD
CA394496157 rs976518420	4	R>G		No	ClinGen TOPMed
rs1250353504 CA394496158	4	R>Q		No	ClinGen TOPMed gnomAD
CA276893403 rs976518420	4	R>W		No	ClinGen TOPMed
CA394496167 rs1213324691	5	L>H		No	ClinGen TOPMed
CA394496175 rs1318818390	6	R>Q		No	ClinGen TOPMed
rs755934127 CA7855892	7	L>F		No	ClinGen ExAC TOPMed gnomAD
rs917304116 CA276893441	8	L>Q		No	ClinGen TOPMed gnomAD
CA276893444 rs985384235	9	A>V		No	ClinGen TOPMed gnomAD
rs1392711629 CA394496263	16	A>T		No	ClinGen TOPMed
rs925891256 CA276893446	17	P>L		No	ClinGen TOPMed gnomAD
rs1467354552 CA394496307	19	A>G		No	ClinGen gnomAD
rs1457949195 CA394496300	19	A>S		No	ClinGen TOPMed gnomAD
CA394496311 rs1174617588	20	R>C		No	ClinGen gnomAD
CA394496314 rs1405788621	20	R>H		No	ClinGen gnomAD
CA394496347 rs1171974660	22	P>R		No	ClinGen TOPMed
rs12935256 CA276893452	23	K>Q		No	ClinGen Ensembl
CA276893462 rs935661359	24	P>L		No	ClinGen TOPMed gnomAD
rs1305037603 CA394496365	24	P>T		No	ClinGen gnomAD
rs1053215937 CA276893468	26	A>E		No	ClinGen Ensembl
rs912951660 CA276893475	27	Q>R		No	ClinGen Ensembl
CA394496420 rs1250939695	28	D>E		No	ClinGen TOPMed
TCGA novel	28	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1455493246 CA394496418	28	D>V		No	ClinGen TOPMed
rs146142284 CA394496424	29	V>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs146142284 CA276893478	29	V>M		No	ClinGen 1000Genomes TOPMed gnomAD
CA276893482 rs1041201180	31	L>P		No	ClinGen TOPMed
rs1253284087 CA394496467	33	V>M		No	ClinGen TOPMed
CA394496542 rs1193184303	34	D>G		No	ClinGen gnomAD
rs1488946616 CA394496534	34	D>N		No	ClinGen gnomAD
rs1488946616 CA394496538	34	D>Y		No	ClinGen gnomAD
CA394496559 rs1330804976	35	W>*		No	ClinGen TOPMed
rs909594718 CA276893737	35	W>R		No	ClinGen TOPMed
rs201175024 CA7855910	37	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA394496586 rs760682820	38	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7855911 rs760682820	38	R>S		No	ClinGen ExAC TOPMed gnomAD
rs763977286 CA7855912	39	Y>*		No	ClinGen ExAC gnomAD
rs941609555 CA394496598	39	Y>C		No	ClinGen TOPMed
rs941609555 CA276893757	39	Y>S		No	ClinGen TOPMed
rs1596490170 CA394496623	41	Y>S		No	ClinGen Ensembl
CA7855913 rs753743584	43	P>R		No	ClinGen ExAC gnomAD
rs367986982 CA7855916 CA7855915	46	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	46	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394496697 rs1348837336	47	P>A		No	ClinGen gnomAD
CA276893768 rs2142477	47	P>R		No	ClinGen Ensembl
rs1037324197 CA276893774	48	A>T		No	ClinGen Ensembl
rs897152812 CA276893777	49	Q>K		No	ClinGen TOPMed gnomAD
rs1294987627 CA394496733	50	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs769320311 CA7855920	53	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1172229258 CA394496781	54	S>G		No	ClinGen TOPMed
rs1596490203 CA394496785	54	S>N		No	ClinGen Ensembl
CA394496796 rs1055358500	55	P>S		No	ClinGen TOPMed gnomAD
CA276893781 rs1055358500	55	P>T		No	ClinGen TOPMed gnomAD
CA394496812 rs1243818400	56	E>G		No	ClinGen gnomAD
rs781775681 CA7855921	57	K>E		No	ClinGen ExAC TOPMed gnomAD
CA7855922 rs113554787	59	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7855923 rs770628753	60	D>H		No	ClinGen ExAC gnomAD
rs770628753 CA394496859	60	D>N		No	ClinGen ExAC gnomAD
CA394496872 rs1231400878	61	A>T		No	ClinGen gnomAD
CA276893790 rs949978677	62	I>V		No	ClinGen TOPMed gnomAD
CA7855924 rs138348812	63	K>E		No	ClinGen ESP ExAC TOPMed
CA7855925 rs759236437	63	K>R		No	ClinGen ExAC gnomAD
rs182726353 CA7855926	64	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs889885905 CA276893816	65	M>I		No	ClinGen Ensembl
rs775384408 CA7855927	65	M>R		No	ClinGen ExAC gnomAD
CA276893827 rs1006695106	66	Q>R		No	ClinGen Ensembl
CA394496965 rs1490009565	68	F>L		No	ClinGen gnomAD
CA919641775 rs1596490257	68	F>NL*		No	ClinGen Ensembl
rs377224522 CA7855928	69	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1596490275 CA394496991	71	L>P		No	ClinGen Ensembl
rs200601704 CA394497004	72	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs200601704 CA7855931	72	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7855933 rs750412963	74	T>I		No	ClinGen ExAC TOPMed gnomAD
rs780102636 CA7855935	75	G>C		No	ClinGen ExAC TOPMed gnomAD
rs1450328924 CA394497044	75	G>D		No	ClinGen gnomAD
rs780102636 CA7855936	75	G>R		No	ClinGen ExAC TOPMed gnomAD
CA919641785 rs1596490311	75	G>V		No	ClinGen Ensembl
rs781683971 CA7855938	76	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1596490325 CA394497071	77	M>I		No	ClinGen Ensembl
CA394433074 rs1596491690	78	D>A		No	ClinGen Ensembl
CA394497075 rs1230115486	78	D>H		No	ClinGen gnomAD
TCGA novel rs1230115486 CA394497073	78	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA276852975 rs762067727	79	P>L		No	ClinGen TOPMed gnomAD
rs1197780579 CA394433084	80	G>R		No	ClinGen gnomAD
rs1478923905 CA394433095	81	T>I		No	ClinGen gnomAD
CA394433099 rs1406313122	82	V>A		No	ClinGen TOPMed
CA7855976 CA394433097 rs756482489	82	V>L		No	ClinGen ExAC gnomAD
rs184106582 CA7855977	84	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7855978 rs754369013	85	M>K		No	ClinGen ExAC TOPMed gnomAD
CA276853039 rs754369013	85	M>T		No	ClinGen ExAC TOPMed gnomAD
CA7855980 rs201498747	86	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7855981 rs188452358	86	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs188452358 CA394433121	86	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7855979 rs201498747	86	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1441679805 CA394433132	88	P>S		No	ClinGen gnomAD
CA7855983 rs780865515	89	R>C		No	ClinGen ExAC TOPMed gnomAD
rs747779520 CA7855984	89	R>H		No	ClinGen ExAC TOPMed gnomAD
CA394433141 rs1242999757	90	C>R		No	ClinGen gnomAD
rs556019849 CA7855985	90	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs773059268 CA7855986	91	S>P		No	ClinGen ExAC gnomAD
CA394433155 rs1056332627	92	L>P		No	ClinGen TOPMed gnomAD
rs1056332627 CA276853149	92	L>R		No	ClinGen TOPMed gnomAD
CA276853150 rs138027517	94	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA394433162 rs1237456703	94	D>N		No	ClinGen gnomAD
rs149544499 CA7855988	95	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs774600148 CA7855989	98	V>M		No	ClinGen ExAC TOPMed gnomAD
CA276853160 rs999436279	99	A>T		No	ClinGen Ensembl
rs762543693 CA7855990	99	A>V		No	ClinGen ExAC TOPMed gnomAD
rs775912542 CA7855992	101	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1157841723 CA394433268	103	R>S		No	ClinGen TOPMed
rs148613771 CA7855994	104	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7855993 rs376635558	104	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7855996 rs200558581 COSM178555	105	R>C	Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs146181243 CA7855997	105	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs750900917 CA7855998	106	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7855999 rs754535765	106	R>H		No	ClinGen ExAC gnomAD
rs750900917 CA394433309	106	R>S		No	ClinGen ExAC TOPMed gnomAD
CA394433327 rs755730588	107	R>P		No	ClinGen ExAC TOPMed gnomAD
rs755730588 CA7856002	107	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7856001 rs752362899	107	R>W		No	ClinGen ExAC TOPMed gnomAD
rs766057587 CA7856003	108	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1381550083 CA394433346	108	Y>C		No	ClinGen TOPMed
CA7856006 rs770815168	109	A>G		No	ClinGen ExAC gnomAD
rs749067434 CA7856005	109	A>T		No	ClinGen ExAC TOPMed gnomAD
rs144033734 CA276853313	110	L>P		No	ClinGen ESP
CA394433380 rs1370312073	110	L>V		No	ClinGen gnomAD
rs745785298 CA7856008	111	S>G		No	ClinGen ExAC TOPMed gnomAD
CA7856009 rs146614659	111	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1432274924 CA719819493	112	G>*		No	ClinGen TOPMed
CA394433421 rs760821624	112	G>R		No	ClinGen ExAC gnomAD
CA7856011 rs760821624	112	G>S		No	ClinGen ExAC gnomAD
CA394433493 rs1596212271	114	V>G		No	ClinGen Ensembl
CA7856014 rs541094689	114	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7856013 rs541094689	114	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA276853431 rs867780654	116	K>*		No	ClinGen Ensembl
TCGA novel	116	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149856253 CA7856017	118	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394433566 rs1277255626	118	R>Q		No	ClinGen TOPMed gnomAD
CA276853470 rs766840038	119	T>N		No	ClinGen Ensembl
CA7856018 rs767022498	119	T>P		No	ClinGen ExAC gnomAD
rs752197839 CA7856019	121	T>S		No	ClinGen ExAC gnomAD
CA7856049 rs748377167	124	V>I		No	ClinGen ExAC gnomAD
CA7856050 rs200080855	125	R>C		No	ClinGen ExAC TOPMed gnomAD
rs773593803 CA7856051	125	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7856052 rs773593803	125	R>L		No	ClinGen ExAC TOPMed gnomAD
rs563170644 CA276853766	126	S>Y		No	ClinGen TOPMed gnomAD
rs771175512 CA7856053	128	P>S		No	ClinGen ExAC gnomAD
CA276853808 rs774978946	129	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA394433882 rs774978946	129	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA7856056 rs774978946	129	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA7856057 rs759954307	131	S>C		No	ClinGen ExAC gnomAD
TCGA novel	136	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7856067 rs766076071	138	V>E		No	ClinGen ExAC gnomAD
CA7856065 rs568491292	138	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs568491292 CA7856066 COSM3707013	138	V>M	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA7856070 rs200216387	139	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376047713 CA7856073 COSM1166009	139	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA7856072 rs200216387	139	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	140	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7856075 rs771391082	142	M>K		No	ClinGen ExAC gnomAD
CA394434182 rs771391082	142	M>T		No	ClinGen ExAC gnomAD
rs370370210 CA7856074	142	M>V		No	ClinGen ESP ExAC TOPMed
CA276853920 rs912621526	144	Y>C		No	ClinGen TOPMed gnomAD
rs527372861 CA7856076	145	A>D		No	ClinGen ExAC TOPMed gnomAD
rs1348962500 CA394434273	145	A>T		No	ClinGen gnomAD
CA7856079 rs772409802	147	M>I		No	ClinGen ExAC gnomAD
rs1567431735 CA394434328	147	M>R		No	ClinGen Ensembl
CA394434400 rs1567431743	149	W>C		No	ClinGen Ensembl
rs761450665 CA7856081	150	G>V		No	ClinGen ExAC gnomAD
CA7856082 rs769408100	151	M>V		No	ClinGen ExAC TOPMed gnomAD
CA394434485 rs141989362	152	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762692740 CA7856084	153	S>*		No	ClinGen ExAC gnomAD
CA394434493 rs762692740	153	S>L		No	ClinGen ExAC gnomAD
TCGA novel	153	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	154	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1316000907 CA394434510	154	G>V		No	ClinGen TOPMed
CA7856086 rs751258156	156	T>P		No	ClinGen ExAC gnomAD
CA394434568 rs1457652244	157	F>Y		No	ClinGen gnomAD
TCGA novel	158	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1199745075 CA394434618	160	V>M		No	ClinGen gnomAD
rs550602066 CA7856091	161	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201922977 CA7856089	161	D>G		No	ClinGen ExAC gnomAD
CA7856088 rs767391650	161	D>Y		No	ClinGen ExAC gnomAD
rs757408855 CA394434662	163	P>L		No	ClinGen ExAC TOPMed gnomAD
rs757408855 CA7856093	163	P>R		No	ClinGen ExAC TOPMed gnomAD
CA7856092 rs757157877	163	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1157448643 CA394434678	164	Q>H		No	ClinGen TOPMed
rs1052278118 CA276854101	165	G>C		No	ClinGen TOPMed gnomAD
rs746188090 CA7856095	165	G>D		No	ClinGen ExAC gnomAD
rs772441481 COSM3712015 CA7856096	167	E>K	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs61747721 CA7856097	168	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7856098 rs61747721	168	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781135595 CA276854183	169	D>N		No	ClinGen TOPMed gnomAD
CA7856100 rs772841152	170	I>L		No	ClinGen ExAC gnomAD
COSM1215290 rs538501940 CA7856101	173	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA394434801 rs1596212768	174	F>L		No	ClinGen Ensembl
CA7856102 rs368444509	176	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs774019392 CA7856103	176	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7856105 rs138287671	177	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7856106 rs752637822	177	A>V		No	ClinGen ExAC gnomAD
CA394434867 rs1312183317	181	D>G		No	ClinGen TOPMed
CA7856107 rs200603611	181	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs764217127 CA7856108	184	P>A		No	ClinGen ExAC gnomAD
rs764217127 CA7856109	184	P>T		No	ClinGen ExAC gnomAD
CA276854211 rs374014120 CA394434954	186	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA7856110 COSM1301901 rs757540476	186	D>N	urinary_tract Variant assessed as Somatic; 4.629e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7856112 rs202155408	187	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1421440926 CA394434967	187	G>V		No	ClinGen gnomAD
rs202155408 CA276854221	187	G>W		No	ClinGen ExAC TOPMed gnomAD
rs747582945 CA7856115	188	L>F		No	ClinGen ExAC TOPMed gnomAD
rs780497795 CA7856114	188	L>V		No	ClinGen ExAC gnomAD
rs1382995646 CA394434994	190	G>S		No	ClinGen TOPMed
CA7856116 rs755526133	191	T>N		No	ClinGen ExAC gnomAD
rs1291915981 CA394435030	192	L>V		No	ClinGen TOPMed gnomAD
rs572174175 CA276854266	193	A>T		No	ClinGen 1000Genomes gnomAD
rs770430143 CA7856119	193	A>V		No	ClinGen ExAC gnomAD
rs773892966 CA7856120	194	H>R		No	ClinGen ExAC gnomAD
rs1004972120 CA276854270	194	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA7856122 rs771923378	196	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1260539871 CA394435165	198	P>A		No	ClinGen TOPMed gnomAD
COSM333273 CA7856123 rs775254400	198	P>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM1708650 rs1260539871 CA394435167	198	P>S	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs201651138 CA276854288	199	G>V		No	ClinGen 1000Genomes gnomAD
CA7856126 rs61753772	200	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7856125 rs368120528	200	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA394435220 rs761819955	201	H>D		No	ClinGen ExAC gnomAD
rs761819955 CA7856127	201	H>N		No	ClinGen ExAC gnomAD
rs765302161 CA7856128	201	H>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
CA7856129 rs574492122	202	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA276854308 rs985290664	203	I>T		No	ClinGen TOPMed gnomAD
CA7856130 rs758686087	203	I>V		No	ClinGen ExAC gnomAD
CA394435295 rs1320610581	204	S>F		No	ClinGen TOPMed gnomAD
rs766904499 CA7856131	204	S>T		No	ClinGen ExAC gnomAD
CA7856133 rs755577652	205	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7856135 rs748634190	206	D>E		No	ClinGen ExAC gnomAD
CA276854314 rs912661940	206	D>Y		No	ClinGen TOPMed gnomAD
CA394435343 rs1403511045	207	T>A		No	ClinGen TOPMed
TCGA novel	210	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778484081 COSM471656 CA7856138	211	D>N	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA276854332 rs748873050	212	E>*		No	ClinGen Ensembl
rs997765901 CA276854349	212	E>D		No	ClinGen Ensembl
CA276854325 rs748873050	212	E>K		No	ClinGen Ensembl
CA276854350 rs1029683445	213	E>A		No	ClinGen Ensembl
rs972743873 CA276854354	215	W>R		No	ClinGen TOPMed gnomAD
CA7856139 rs148040455	216	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA394435498 rs148040455	216	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA394435499 rs148040455	216	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA394439855 CA394439854 rs141712835	221	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1176761318 CA394435568	221	D>H		No	ClinGen gnomAD
rs762354889 CA7856214	222	G>C		No	ClinGen ExAC TOPMed gnomAD
rs762354889 CA7856213	222	G>S		No	ClinGen ExAC TOPMed gnomAD
CA7856215 rs150589325	222	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375193851 CA7856218	223	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7856220 rs755712834	223	E>D		No	ClinGen ExAC TOPMed gnomAD
CA7856217 rs375193851	223	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1444156559 CA394439867	224	G>E		No	ClinGen TOPMed
rs1475388915 CA394439873	225	T>N		No	ClinGen gnomAD
rs757079699 CA7856222	226	D>E		No	ClinGen ExAC gnomAD
CA394439879 rs1596220691	226	D>G		No	ClinGen Ensembl
rs61747718 CA7856221	226	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394439877 rs61747718	226	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7856223 rs200058415	228	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1445931404 CA394439900	230	V>M		No	ClinGen TOPMed gnomAD
CA394439925 rs1356375574	232	V>A		No	ClinGen gnomAD
CA394439919 rs1312451355	232	V>L		No	ClinGen gnomAD
rs779993445 CA276860545	233	H>L		No	ClinGen ExAC TOPMed gnomAD
rs779993445 CA394439936	233	H>P		No	ClinGen ExAC TOPMed gnomAD
CA7856226 rs779993445	233	H>R		No	ClinGen ExAC TOPMed gnomAD
rs146192671 CA394440024	237	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA394440012 rs1276682870	237	H>Y		No	ClinGen TOPMed gnomAD
CA394440043 rs1275733886	238	A>D		No	ClinGen gnomAD
CA7856228 rs139070896	238	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1279044495 CA394440057	239	L>P		No	ClinGen gnomAD
rs1279044495 CA394440059	239	L>R		No	ClinGen gnomAD
rs777017049 CA394440049	239	L>V		No	ClinGen ExAC gnomAD
CA7856231 rs770091728	240	G>D		No	ClinGen ExAC gnomAD
CA394440065 rs1189704282	240	G>R		No	ClinGen gnomAD
CA394440064 rs1189704282	240	G>S		No	ClinGen gnomAD
rs773718466 CA7856232	241	L>P		No	ClinGen ExAC gnomAD
CA7856233 rs150670162	242	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771674942 CA7856234	243	H>Y		No	ClinGen ExAC gnomAD
CA276860604 rs868820868	244	S>F		No	ClinGen Ensembl
rs1173059925 CA394440156	246	A>S		No	ClinGen gnomAD
rs1376200725 CA394440181	247	P>H		No	ClinGen gnomAD
CA7856235 CA7856236 rs774842752	248	N>K		No	ClinGen ExAC gnomAD
CA394440201 rs1255419852	248	N>S		No	ClinGen TOPMed
rs754304077 CA394440230	250	I>S		No	ClinGen ExAC gnomAD
rs754304077 CA7856238	250	I>T		No	ClinGen ExAC gnomAD
rs1431959403 CA394440239	251	M>L		No	ClinGen gnomAD
rs1431959403 CA394440236	251	M>V		No	ClinGen gnomAD
CA7856239 rs761714073	252	R>K		No	ClinGen ExAC gnomAD
CA394440275 rs1366071619	252	R>S		No	ClinGen TOPMed gnomAD
CA7856240 rs765059305	254	F>Y		No	ClinGen ExAC gnomAD
TCGA novel	255	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1348062787 CA394440340	256	Q>*		No	ClinGen gnomAD
rs1212493061 CA394440348	256	Q>R		No	ClinGen gnomAD
rs1356414032 CA394440360	257	G>S		No	ClinGen TOPMed
CA7856243 rs143925847	258	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7856244 rs143925847	258	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1243675412 CA394440404	259	V>M		No	ClinGen gnomAD
rs1193000968 CA394440416	260	G>R		No	ClinGen gnomAD
rs777990462 CA394440434	261	D>A		No	ClinGen ExAC gnomAD
rs1376345142 CA394440436	261	D>E		No	ClinGen TOPMed
rs777990462 CA7856249	261	D>G		No	ClinGen ExAC gnomAD
rs770145033 CA7856248	261	D>N		No	ClinGen ExAC gnomAD
rs1259639223 CA394440447	262	P>R		No	ClinGen TOPMed gnomAD
rs749860230 CA7856250	262	P>T		No	ClinGen ExAC TOPMed gnomAD
rs915980854 CA394440465	263	D>E		No	ClinGen TOPMed gnomAD
rs771314509 CA7856251	264	K>E		No	ClinGen ExAC gnomAD
rs1348563322 CA394440489	265	Y>H		No	ClinGen gnomAD
CA7856252 rs192194204	266	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760286558 CA7856254	266	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7856253 rs760286558	266	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7856257 rs201815738	267	L>P		No	ClinGen ExAC TOPMed gnomAD
CA394440534 rs1349469020	268	S>C		No	ClinGen gnomAD
rs1192100090 CA394440558	270	D>E		No	ClinGen gnomAD
rs750161184 CA7856258	270	D>G		No	ClinGen ExAC gnomAD
CA394440575 rs1361734416	271	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1286077191 CA394440563	271	D>Y		No	ClinGen gnomAD
CA7856259 rs374797521	272	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7856260 rs766255727	272	R>H		No	ClinGen ExAC TOPMed gnomAD
rs766255727 CA394440585	272	R>L		No	ClinGen ExAC TOPMed gnomAD
CA394440591 rs755060073	273	D>H		No	ClinGen ExAC gnomAD
rs755060073 CA7856262 COSM1708652	273	D>N	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA7856264 rs151299530	275	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA7856265 rs756311096	276	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs778242846 CA7856266	276	Q>L		No	ClinGen ExAC gnomAD
rs201126272 CA276860786	277	Q>P		No	ClinGen TOPMed
rs755424909 CA7856268	279	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1397365961 CA394440699	280	G>R		No	ClinGen gnomAD
CA394440704 rs1397365961	280	G>W		No	ClinGen gnomAD
CA276861047 rs765568487	282	A>E		No	ClinGen ExAC TOPMed gnomAD
rs140235913 CA276861024 COSM269604	282	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
CA7856303 rs765568487	282	A>V		No	ClinGen ExAC TOPMed gnomAD
CA394440946 rs1229590714	283	P>L		No	ClinGen TOPMed gnomAD
CA7856305 rs758796076	287	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1211793876 CA394441063	288	D>E		No	ClinGen gnomAD
rs1282761020 CA394441083	289	K>N		No	ClinGen gnomAD
rs780728650 CA7856306	290	P>S		No	ClinGen ExAC gnomAD
rs780728650 CA394441092	290	P>T		No	ClinGen ExAC gnomAD
CA7856307 rs747456830	292	R>G		No	ClinGen ExAC gnomAD
CA7856309 rs377077970	294	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7856310 rs377077970	294	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs755580283 CA7856308	294	P>T		No	ClinGen ExAC TOPMed gnomAD
rs770589525 CA7856311	297	P>L		No	ClinGen ExAC gnomAD
CA7856312 rs199763197	298	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7856315 rs775412196	299	P>T		No	ClinGen ExAC TOPMed gnomAD
rs760658044 CA7856316	301	P>L		No	ClinGen ExAC gnomAD
CA7856317 rs768677990	302	P>L		No	ClinGen ExAC TOPMed gnomAD
rs768677990 CA7856318	302	P>R		No	ClinGen ExAC TOPMed gnomAD
rs370333247 CA7856320	304	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1370271604 CA394441591	308	S>G		No	ClinGen gnomAD
CA276861438 rs1032151232	309	P>A		No	ClinGen TOPMed gnomAD
rs372114614 CA7856348	311	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA394441959 rs1232728711	313	I>N		No	ClinGen TOPMed
CA394441983 rs1375760919	314	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7856350 rs756768550	316	R>G		No	ClinGen ExAC TOPMed gnomAD
CA394442052 rs1341746724	316	R>L		No	ClinGen TOPMed
rs778391131 CA7856351	317	C>R		No	ClinGen ExAC TOPMed gnomAD
CA394442072 rs1356581391	317	C>Y		No	ClinGen gnomAD
rs1235611940 CA394442083	318	E>K		No	ClinGen gnomAD
CA7856353 rs758025741	319	G>D		No	ClinGen ExAC TOPMed gnomAD
CA394442200 rs1251431431	321	F>V		No	ClinGen gnomAD
rs557799311 CA276861465	322	D>E		No	ClinGen 1000Genomes TOPMed gnomAD
rs146563349 CA394442254	323	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs146563349 CA7856356	323	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs146563349 CA7856355	323	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs781202606 CA7856357	324	I>V		No	ClinGen ExAC gnomAD
CA394442294 rs1183477855	325	A>S		No	ClinGen TOPMed gnomAD
rs1183477855 CA394442291	325	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA394442299 rs1417336355	325	A>V		No	ClinGen gnomAD
rs1041610040 CA276861493	326	N>S		No	ClinGen Ensembl
rs770060905 CA7856359	327	I>N		No	ClinGen ExAC gnomAD
rs145736176 CA7856362	328	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1312505851 CA394442365	328	R>Q		No	ClinGen gnomAD
rs774389844 CA7856363	329	G>R		No	ClinGen ExAC gnomAD
CA7856364 rs759963138	330	E>D		No	ClinGen ExAC gnomAD
CA394442419 rs1268826522	331	T>S		No	ClinGen gnomAD
TCGA novel	332	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394443976 rs778845474	336	G>D		No	ClinGen ExAC TOPMed gnomAD
CA7856400 rs778845474	336	G>V		No	ClinGen ExAC TOPMed gnomAD
CA276862390 rs79355508	337	P>H		No	ClinGen TOPMed
CA394443988 rs79355508	337	P>L		No	ClinGen TOPMed
rs999334002 CA276862395	338	W>*		No	ClinGen Ensembl
rs780284435 CA7856403	338	W>*		No	ClinGen ExAC
CA7856402 rs772154857	338	W>R		No	ClinGen ExAC gnomAD
rs747395216 CA7856404	339	F>L		No	ClinGen ExAC TOPMed gnomAD
CA394444022 rs1269834913	340	W>*		No	ClinGen gnomAD
CA394444026 rs1269834913	340	W>L		No	ClinGen gnomAD
CA7856405 rs768950696	341	R>C		No	ClinGen ExAC gnomAD
CA276862444 rs373228557	344	P>L		No	ClinGen ESP TOPMed gnomAD
rs773709041 COSM1189153 CA7856409	345	S>F	lung Variant assessed as Somatic; 0.0 impact. breast [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA394444090 rs371136994	346	G>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs371136994 CA7856410	346	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7856411 rs767105329	348	L>V		No	ClinGen ExAC TOPMed gnomAD
rs777832748 CA7856412	351	P>L		No	ClinGen ExAC gnomAD
rs777832748 CA276862478	351	P>Q		No	ClinGen ExAC gnomAD
CA276862473 rs112131450	351	P>S		No	ClinGen Ensembl
rs59807543 CA394444155	352	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7856414 rs763980250	352	R>L		No	ClinGen ExAC gnomAD
CA394444164 rs1406628646	353	P>T		No	ClinGen gnomAD
rs1334779412 CA394444175	354	A>T		No	ClinGen gnomAD
rs143151689 CA7856417	355	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7856418 rs143151689	355	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA394444190 rs1335500816	355	R>W		No	ClinGen TOPMed gnomAD
CA7856419 rs758456987	356	L>R		No	ClinGen ExAC TOPMed gnomAD
CA394444211 rs1361599463	357	H>P		No	ClinGen TOPMed
CA7856420 rs780266361	357	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA394444222 rs1265981319	358	R>C		No	ClinGen TOPMed gnomAD
CA394444220 rs1265981319	358	R>G		No	ClinGen TOPMed gnomAD
rs1358509504 CA394444224	358	R>H		No	ClinGen gnomAD
rs1358509504 CA394444228	358	R>P		No	ClinGen gnomAD
CA394444218 rs1265981319	358	R>S		No	ClinGen TOPMed gnomAD
CA7856421 rs148242288	361	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394444285 rs1272441809	362	G>V		No	ClinGen gnomAD
rs1475244352 CA394444287	363	L>M		No	ClinGen TOPMed
CA394444298 rs769075380	364	P>A		No	ClinGen ExAC gnomAD
rs1475094921 CA394444305	364	P>R		No	ClinGen gnomAD
CA7856422 rs769075380	364	P>S		No	ClinGen ExAC gnomAD
rs781523004 CA394444313	365	A>D		No	ClinGen ExAC TOPMed gnomAD
CA7856426 rs781523004	365	A>G		No	ClinGen ExAC TOPMed gnomAD
CA7856424 rs1555440303	365	A>P		No	ClinGen Ensembl
CA7856423 rs1555440303	365	A>T		No	ClinGen Ensembl
CA276862576 rs865802671	366	Q>*		No	ClinGen Ensembl
CA7856429 rs527931927	366	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs527931927 CA276862580	366	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1596222573 CA394444342	367	V>G		No	ClinGen Ensembl
rs1283810276 CA394444353	368	R>S		No	ClinGen TOPMed
rs1596222589 CA394444365	369	V>G		No	ClinGen Ensembl
CA394444369 rs1309487718	370	V>L		No	ClinGen gnomAD
CA394444399 rs1313209293	372	A>D		No	ClinGen gnomAD
rs1413975261 CA394444395	372	A>T		No	ClinGen gnomAD
CA7856433 rs760395064	374	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA394444459 rs764029492	376	R>G		No	ClinGen ExAC TOPMed gnomAD
rs201851412 CA394444467	376	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7856437 rs201851412	376	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201851412 CA7856435	376	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394444461 rs764029492	376	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7856439 rs765111576	378	R>*		No	ClinGen ExAC gnomAD
CA394444509 rs561431578	378	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561431578 CA7856440	378	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1485528778 CA394444533	379	D>E		No	ClinGen gnomAD
rs1429051185 CA394444513	379	D>N		No	ClinGen TOPMed
CA7856441 rs758411367	380	G>C		No	ClinGen ExAC gnomAD
rs758411367 CA276862641	380	G>R		No	ClinGen ExAC gnomAD
rs758411367 CA394444539	380	G>S		No	ClinGen ExAC gnomAD
rs1324397220 CA394444545	380	G>V		No	ClinGen TOPMed
CA394444553 rs766441316	381	R>*		No	ClinGen ExAC gnomAD
CA7856443 rs751837693	381	R>P		No	ClinGen ExAC gnomAD
rs1317197379 CA394444582	383	L>I		No	ClinGen TOPMed
CA394444599 rs1449566330	384	L>H		No	ClinGen gnomAD
rs530350084 CA7856445	385	F>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1183866581 CA394444645	386	S>R		No	ClinGen TOPMed gnomAD
CA7856446 rs748489778	387	G>R		No	ClinGen ExAC gnomAD
CA394444745 rs1238741492	388	P>L		No	ClinGen gnomAD
CA276862857 rs1057455857	389	Q>L		No	ClinGen Ensembl
rs1331823109 CA394444821	392	V>E		No	ClinGen gnomAD
CA7856466 rs375829279	393	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs749813103 CA7856468	395	D>G		No	ClinGen ExAC TOPMed gnomAD
CA7856470 rs779523692	396	R>P		No	ClinGen ExAC gnomAD
rs779523692 CA276862875	396	R>Q		No	ClinGen ExAC gnomAD
rs566070465 CA7856469	396	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs899409659 CA276862876	397	Q>*		No	ClinGen TOPMed
CA394444899 rs1269064787	397	Q>H		No	ClinGen gnomAD
rs1416984374 CA394444914	398	L>R		No	ClinGen gnomAD
CA394444945 rs1412517369	400	G>D		No	ClinGen gnomAD
CA394444938 rs1596222945	400	G>S		No	ClinGen Ensembl
rs200636618 CA7856471	401	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA276862885 rs533810798	401	G>R		No	ClinGen 1000Genomes TOPMed gnomAD
CA394444955 rs533810798	401	G>W		No	ClinGen 1000Genomes TOPMed gnomAD
rs1458501160 CA394444972	402	A>P		No	ClinGen TOPMed gnomAD
rs1458501160 CA394444969	402	A>T		No	ClinGen TOPMed gnomAD
rs1295401052 CA394444976	402	A>V		No	ClinGen gnomAD
rs747830338 CA394445056	407	E>*		No	ClinGen ExAC TOPMed gnomAD
rs747830338 CA7856475	407	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1320552699 CA394445059	407	E>V		No	ClinGen TOPMed gnomAD
CA394445108 rs1369852880	409	G>R		No	ClinGen TOPMed
rs762914325 CA7856478	411	P>L		No	ClinGen ExAC gnomAD
rs762914325 CA394445143	411	P>R		No	ClinGen ExAC gnomAD
CA7856477 rs573486213	411	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1473461622 CA394445156	412	P>Q		No	ClinGen gnomAD
rs536071062 CA394445187	414	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs536071062 CA7856483	414	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7856485 rs764406521	415	E>D		No	ClinGen ExAC gnomAD
CA394445215 rs1166982595	415	E>K		No	ClinGen TOPMed gnomAD
CA7856486 rs369222076	416	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1173267248 CA394445238	416	V>M		No	ClinGen TOPMed
CA394445272 rs1372746657	417	D>E		No	ClinGen TOPMed gnomAD
CA394445263 rs1308881425	417	D>G		No	ClinGen gnomAD
rs757650170 CA7856487	419	V>G		No	ClinGen ExAC gnomAD
CA394445288 rs1196516567	419	V>M		No	ClinGen gnomAD
CA394445304 rs1258813686	420	F>L		No	ClinGen TOPMed
CA394445374 rs1314251055	422	W>*		No	ClinGen gnomAD
CA7856491 rs758772599	422	W>*		No	ClinGen ExAC gnomAD
CA7856492 rs780736213	423	P>S		No	ClinGen ExAC gnomAD
CA394445402 rs1227145741	424	Q>*		No	ClinGen gnomAD
CA394445439 rs1437169253	425	N>K		No	ClinGen TOPMed gnomAD
rs747800563 CA7856493	426	G>R		No	ClinGen ExAC gnomAD
CA7856495 rs769452177	428	T>I		No	ClinGen ExAC TOPMed gnomAD
CA7856494 rs769452177	428	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1567129417 CA394445542	431	V>D		No	ClinGen Ensembl
CA276862999 rs749103327	431	V>F		No	ClinGen ExAC TOPMed gnomAD
CA7856496 rs749103327	431	V>I		No	ClinGen ExAC TOPMed gnomAD
CA7856498 rs371274366	432	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs770653878 CA7856497	432	R>S		No	ClinGen ExAC TOPMed gnomAD
CA394445596 rs1392225414	434	R>P		No	ClinGen gnomAD
rs1169425296 CA394445590	434	R>W		No	ClinGen gnomAD
CA394445622 rs1360179846	435	Q>H		No	ClinGen gnomAD
CA394445603 rs1175785481	435	Q>K		No	ClinGen gnomAD
rs1293831385 CA394445665	437	W>*		No	ClinGen TOPMed
CA394445672 rs1287649952	438	R>C		No	ClinGen gnomAD
rs950404219 CA394445704	439	Y>*		No	ClinGen TOPMed gnomAD
rs764403741 CA7856504	440	D>E		No	ClinGen ExAC TOPMed gnomAD
rs760635037 CA394445709	440	D>H		No	ClinGen ExAC gnomAD
rs760635037 CA7856503	440	D>N	Variant assessed as Somatic; 0.0001485 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs913189493 CA276863040	441	E>*		No	ClinGen TOPMed gnomAD
rs754058762 CA7856505	441	E>D		No	ClinGen ExAC TOPMed gnomAD
rs913189493 CA276863030	441	E>K		No	ClinGen TOPMed gnomAD
rs913189493 CA394445734	441	E>Q		No	ClinGen TOPMed gnomAD
CA394445764 rs1426845461	442	A>V		No	ClinGen gnomAD
rs1418573772 CA394445786	444	A>T		No	ClinGen TOPMed
CA394445797 rs1418583637	444	A>V		No	ClinGen TOPMed
rs765690485 CA394445804	445	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1464421435 CA394445811	445	R>P		No	ClinGen gnomAD
CA7856507 rs765690485	445	R>S		No	ClinGen ExAC TOPMed gnomAD
CA7856508 rs751022068	446	P>A		No	ClinGen ExAC gnomAD
rs758948440 CA7856509	446	P>L		No	ClinGen ExAC TOPMed gnomAD
rs758948440 CA7856510	446	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs752283507 CA7856511	447	D>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	448	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394445859 rs1213126744	448	P>R		No	ClinGen TOPMed
rs1262116559 CA394445850	448	P>S		No	ClinGen TOPMed
CA7856514 rs748871459	449	G>V		No	ClinGen ExAC TOPMed gnomAD
CA276863088 rs974525981	451	P>T		No	ClinGen TOPMed gnomAD
rs1458243510 CA394445925	452	R>C		No	ClinGen gnomAD
rs1458243510 CA394445923	452	R>G		No	ClinGen gnomAD
rs202172974 CA7856515	453	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7856516 rs199631635	454	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA394445996 rs1287340409	455	S>R		No	ClinGen TOPMed
CA394446005 rs1273930283	456	L>F		No	ClinGen gnomAD
rs909214033 CA276863118	457	W>C		No	ClinGen Ensembl
CA394446039 rs1456858675	458	E>K		No	ClinGen TOPMed
rs1368001754 CA394446069	459	G>A		No	ClinGen gnomAD
CA7856518 rs772077744	460	A>T		No	ClinGen ExAC gnomAD
rs1281911650 CA394446084	460	A>V		No	ClinGen TOPMed gnomAD
CA276863131 rs979400890	461	P>A		No	ClinGen TOPMed gnomAD
CA394446095 rs979400890	461	P>T		No	ClinGen TOPMed gnomAD
CA7856521 rs760825102	462	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7856520 rs760825102	462	P>R		No	ClinGen ExAC TOPMed gnomAD
CA7856519 rs775245523	462	P>T		No	ClinGen ExAC gnomAD
CA276863152 rs934624761	463	S>C		No	ClinGen TOPMed gnomAD
rs1328316597	463	S>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA7856522 rs777062850	464	P>L		No	ClinGen ExAC gnomAD
rs564697763 CA7856524	466	D>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762110660 CA394446168	466	D>N		No	ClinGen ExAC gnomAD
CA7856523 rs762110660	466	D>Y		No	ClinGen ExAC gnomAD
rs899125802 CA276863193	468	T>I		No	ClinGen TOPMed gnomAD
rs763183526 CA7856527	469	V>A		No	ClinGen ExAC TOPMed gnomAD
rs763183526 CA7856526	469	V>D		No	ClinGen ExAC TOPMed gnomAD
CA7856525 rs773677833	469	V>F		No	ClinGen ExAC TOPMed gnomAD
CA394446230 rs1464134403	470	S>N		No	ClinGen TOPMed
CA7856528 CA7856530 rs751951982	470	S>R		No	ClinGen ExAC gnomAD
CA7856531 rs753539682	471	N>S		No	ClinGen ExAC gnomAD
CA7856532 rs756872857	472	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1438183906 CA394446270	472	A>T		No	ClinGen gnomAD
rs756872857 CA7856533	472	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1432938670 CA394446378	473	G>D		No	ClinGen gnomAD
CA394446412 rs1567129816	476	Y>C		No	ClinGen Ensembl
rs754837029 COSM557755 CA7856557	477	F>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA394446426 rs1476809919	477	F>S		No	ClinGen TOPMed
CA394446496 rs1230886722	480	G>V		No	ClinGen TOPMed gnomAD
rs781232240 CA7856558	481	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7856559 rs748257213	482	H>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1201501165 CA394446582	484	W>*		No	ClinGen gnomAD
CA394446640 rs1246889782	487	P>L		No	ClinGen gnomAD
rs1186061804 CA394446634	487	P>S		No	ClinGen TOPMed gnomAD
CA7856562 rs773571920	488	K>E		No	ClinGen ExAC gnomAD
TCGA novel	488	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7856564 rs771382761	489	N>K		No	ClinGen ExAC TOPMed gnomAD
CA276863471 rs1045751560	489	N>Y		No	ClinGen TOPMed
rs1344547461 CA394446705	491	I>S		No	ClinGen TOPMed
CA394446696 rs1172975271	491	I>V		No	ClinGen gnomAD
rs993068660 CA394446768	494	E>K		No	ClinGen gnomAD
CA276863478 rs993068660	494	E>Q		No	ClinGen gnomAD
CA276863483 rs201570902	495	P>L		No	ClinGen 1000Genomes gnomAD
rs201570902 CA394446818	495	P>Q		No	ClinGen 1000Genomes gnomAD
rs200340446 CA7856568	497	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs759906251 CA7856566	497	A>S		No	ClinGen ExAC TOPMed gnomAD
rs200340446 CA7856567	497	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7856569 rs761320147	498	P>R		No	ClinGen ExAC
CA394446865 rs1299524141	498	P>S		No	ClinGen gnomAD
CA394446876 rs750150544	499	Q>E		No	ClinGen ExAC gnomAD
rs1258151805 CA394446896	499	Q>H		No	ClinGen TOPMed gnomAD
rs750150544 CA7856571	499	Q>K		No	ClinGen ExAC gnomAD
CA7856572 rs762488230	500	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1266924341 CA394446938	501	M>I		No	ClinGen gnomAD
rs766234133 CA276863545 CA7856573	501	M>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	503	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394447005 rs1206496423	504	N>K		No	ClinGen gnomAD
CA394446990 rs1567129930	504	N>S		No	ClinGen Ensembl
CA276863549 rs948740319	505	W>R		No	ClinGen TOPMed gnomAD
CA394447101 rs1432258883	508	C>Y		No	ClinGen gnomAD
CA394447346 rs1454898173	509	P>L		No	ClinGen TOPMed
CA394447337 rs1158709874	509	P>S		No	ClinGen TOPMed
CA394447352 rs1199230829	510	A>P		No	ClinGen gnomAD
rs1199230829 CA394447354	510	A>S		No	ClinGen gnomAD
CA7856576 rs370097888	512	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA394448105 rs1389437133	513	S>A		No	ClinGen gnomAD
rs528502666 CA276863609	514	G>C		No	ClinGen 1000Genomes TOPMed gnomAD
CA276863589 rs528502666	514	G>S		No	ClinGen 1000Genomes TOPMed gnomAD
CA7856577 rs201420558	515	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7856578 rs567271071	516	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs199549053 CA7856579	516	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199549053 CA394448156	516	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394448161 rs1185119383	517	A>P		No	ClinGen TOPMed
CA394448163 rs1185119383	517	A>S		No	ClinGen TOPMed
rs556037619 CA7856580	517	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1289570429 CA394448187	518	P>L		No	ClinGen gnomAD
rs1263182130 CA394448191	519	R>K		No	ClinGen gnomAD
CA394448192 rs1263182130	519	R>T		No	ClinGen gnomAD
rs1210133100 CA394448210	520	P>L		No	ClinGen gnomAD
rs1487915346 CA394448200	520	P>S		No	ClinGen TOPMed gnomAD
CA7856585 rs569853317	521	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7856584 rs569853317	521	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7856583 rs746233138	521	P>S		No	ClinGen ExAC gnomAD
rs1420824665 CA394448237	522	K>I		No	ClinGen gnomAD
rs1412565967 CA394448223	522	K>Q		No	ClinGen TOPMed gnomAD
rs201557156 CA394448280	525	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201557156 CA7856588	525	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1291886326 CA394448276	525	P>S		No	ClinGen TOPMed
rs747774238	526	V>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs995856113 CA276863687	526	V>M		No	ClinGen gnomAD
CA276863688 rs1022019577	527	S>P		No	ClinGen TOPMed
CA394448300 rs1383504135	527	S>Y		No	ClinGen TOPMed
CA394448311 rs1385840335	528	E>A		No	ClinGen TOPMed
CA276863690 rs867374421	528	E>K		No	ClinGen Ensembl
CA394448337 rs1352806231	530	C>Y		No	ClinGen gnomAD
rs772562593 CA394448349	531	D>H		No	ClinGen ExAC TOPMed gnomAD
CA394448347 rs772562593	531	D>N		No	ClinGen ExAC TOPMed gnomAD
rs772562593 CA7856589	531	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs978285162 CA276863698	533	Q>P		No	ClinGen Ensembl
rs1245036230 CA394448397	534	C>*		No	ClinGen gnomAD
CA394448389 rs1320649800	534	C>G		No	ClinGen gnomAD
CA394448387 rs1320649800	534	C>R		No	ClinGen gnomAD
rs558651639 CA276863702	537	N>S		No	ClinGen 1000Genomes
CA394448451 rs1162004194	538	Q>E		No	ClinGen gnomAD
CA7856590 rs762482944	538	Q>H		No	ClinGen ExAC gnomAD
CA394448482 rs1161315812	540	A>G		No	ClinGen TOPMed
CA394448478 rs1252285217	540	A>T		No	ClinGen gnomAD
rs7188234 CA7856592	541	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7856593 rs541071753	542	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs541071753 CA394448499	542	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394448505 rs1424515319	542	R>H		No	ClinGen gnomAD
rs372753938 CA7856594	543	W>C		No	ClinGen ESP ExAC
CA276863725 rs555289844	544	P>L		No	ClinGen 1000Genomes gnomAD
CA394448533 rs555289844	544	P>R		No	ClinGen 1000Genomes gnomAD
rs1158203525 CA394448529	544	P>S		No	ClinGen gnomAD
CA394448544 rs1169547637	545	A>G		No	ClinGen gnomAD
CA7856595 rs752738148	545	A>T		No	ClinGen ExAC gnomAD
rs1446442707 CA394448574	548	P>S		No	ClinGen TOPMed gnomAD
CA394448571 rs1446442707	548	P>T		No	ClinGen TOPMed gnomAD
CA7856596 rs756097083	550	L>P		No	ClinGen ExAC
rs980793559 CA394448613	552	L>M		No	ClinGen TOPMed gnomAD
CA7856598 rs753887651	553	P>L		No	ClinGen ExAC gnomAD
CA394448629 rs575147898	553	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7856597 rs575147898	553	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1272246645 CA394448637	554	L>V		No	ClinGen TOPMed
CA394448646 rs1229201329	555	L>M		No	ClinGen TOPMed
CA394448653 rs1362548945	555	L>P		No	ClinGen TOPMed
CA276863779 rs939625737	556	V>G		No	ClinGen TOPMed
rs917512177 CA276863773	556	V>L		No	ClinGen Ensembl
CA394448671 rs544102381	557	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs544102381 CA7856601	557	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1207899429 CA394448664	557	G>R		No	ClinGen gnomAD
CA394448673 rs544102381	557	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs528328005 CA394448681	558	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7856602 rs758822516	558	G>S		No	ClinGen ExAC gnomAD
rs528328005 CA7856603	558	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA276863823 rs980072126	560	A>T		No	ClinGen TOPMed
CA394448697 rs1246268969	560	A>V		No	ClinGen gnomAD
rs1449084648 CA394448706	561	S>A		No	ClinGen gnomAD
rs1189517297 CA394448716	562	R>C		No	ClinGen gnomAD
CA394448718 rs1318499822	562	R>H		No	ClinGen TOPMed gnomAD

No associated diseases with Q9NPA2

9 regional properties for Q9NPA2

Type	Name	Position	InterPro Accession
domain	Hemopexin-like domain	314 - 508	IPR000585
domain	Peptidase M10, metallopeptidase	115 - 280	IPR001818
domain	Peptidoglycan binding-like	26 - 85	IPR002477
domain	Peptidase, metallopeptidase	111 - 281	IPR006026
repeat	Hemopexin-like repeats	314 - 365	IPR018487-1
repeat	Hemopexin-like repeats	367 - 412	IPR018487-2
repeat	Hemopexin-like repeats	413 - 462	IPR018487-3
repeat	Hemopexin-like repeats	462 - 508	IPR018487-4
domain	Peptidase M10A, catalytic domain	115 - 280	IPR033739

Functions

		Description
EC Number
Subcellular Localization	Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side Secreted, extracellular space, extracellular matrix
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
anchored component of membrane	The component of a membrane consisting of the gene products that are tethered to the membrane only by a covalently attached anchor, such as a lipid group that is embedded in the membrane. Gene products with peptide sequences that are embedded in the membrane are excluded from this grouping.
extracellular matrix	A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues.
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.
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.
specific granule membrane	The lipid bilayer surrounding a specific granule, a granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase.

2 GO annotations of molecular function

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

5 GO annotations of biological process

Name	Definition
collagen catabolic process	The proteolytic chemical reactions and pathways resulting in the breakdown of collagen in the extracellular matrix, usually carried out by proteases secreted by nearby cells.
extracellular matrix organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix.
hard palate development	The biological process whose specific outcome is the progression of the hard palate from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. The hard palate is the anterior portion of the palate consisting of bone and mucous membranes.
inflammatory response	The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
proteolysis	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.

17 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3SZV7	HPX	Hemopexin	Bos taurus (Bovine)	PR
O77656	MMP13	Collagenase 3	Bos taurus (Bovine)	PR
Q9GLE5	MMP2	72 kDa type IV collagenase	Bos taurus (Bovine)	PR
Q90611	MMP2	72 kDa type IV collagenase	Gallus gallus (Chicken)	PR
Q8MPP3	Mmp2	Matrix metalloproteinase-2	Drosophila melanogaster (Fruit fly)	PR
P04004	VTN	Vitronectin	Homo sapiens (Human)	PR
P45452	MMP13	Collagenase 3	Homo sapiens (Human)	PR
Q9H239	MMP28	Matrix metalloproteinase-28	Homo sapiens (Human)	PR
Q99542	MMP19	Matrix metalloproteinase-19	Homo sapiens (Human)	PR
P34960	Mmp12	Macrophage metalloelastase	Mus musculus (Mouse)	PR
P33435	Mmp13	Collagenase 3	Mus musculus (Mouse)	PR
P33434	Mmp2	72 kDa type IV collagenase	Mus musculus (Mouse)	PR
P28862	Mmp3	Stromelysin-1	Mus musculus (Mouse)	PR
P23097	Mmp13	Collagenase 3	Rattus norvegicus (Rat)	PR
Q63341	Mmp12	Macrophage metalloelastase	Rattus norvegicus (Rat)	PR
P33436	Mmp2	72 kDa type IV collagenase	Rattus norvegicus (Rat)	PR
Q6PHG2	hpx	Hemopexin	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MRLRLRLLAL	LLLLLAPPAR	APKPSAQDVS	LGVDWLTRYG	YLPPPHPAQA	QLQSPEKLRD
70	80	90	100	110	120
AIKVMQRFAG	LPETGRMDPG	TVATMRKPRC	SLPDVLGVAG	LVRRRRRYAL	SGSVWKKRTL
130	140	150	160	170	180
TWRVRSFPQS	SQLSQETVRV	LMSYALMAWG	MESGLTFHEV	DSPQGQEPDI	LIDFARAFHQ
190	200	210	220	230	240
DSYPFDGLGG	TLAHAFFPGE	HPISGDTHFD	DEETWTFGSK	DGEGTDLFAV	AVHEFGHALG
250	260	270	280	290	300
LGHSSAPNSI	MRPFYQGPVG	DPDKYRLSQD	DRDGLQQLYG	KAPQTPYDKP	TRKPLAPPPQ
310	320	330	340	350	360
PPASPTHSPS	FPIPDRCEGN	FDAIANIRGE	TFFFKGPWFW	RLQPSGQLVS	PRPARLHRFW
370	380	390	400	410	420
EGLPAQVRVV	QAAYARHRDG	RILLFSGPQF	WVFQDRQLEG	GARPLTELGL	PPGEEVDAVF
430	440	450	460	470	480
SWPQNGKTYL	VRGRQYWRYD	EAAARPDPGY	PRDLSLWEGA	PPSPDDVTVS	NAGDTYFFKG
490	500	510	520	530	540
AHYWRFPKNS	IKTEPDAPQP	MGPNWLDCPA	PSSGPRAPRP	PKATPVSETC	DCQCELNQAA
550	560
GRWPAPIPLL	LLPLLVGGVA	SR