AiPD: Autoinhibited Protein Database

Q6P2P2

Gene name	PRMT9
Protein name	Protein arginine N-methyltransferase 9
Names	Protein arginine N-methyltransferase 10
Species	Homo sapiens (Human)
KEGG Pathway	hsa:90826
EC number	2.1.1.320: Methyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-50 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-50 (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

4 structures for Q6P2P2

Entry ID	Method	Resolution	Chain	Position	Source
6PDM	X-ray	245 A	A	127-845	PDB
7RBQ	X-ray	220 A	A	127-845	PDB
7T39	X-ray	281 A	A	127-845	PDB
AF-Q6P2P2-F1	Predicted				AlphaFoldDB

633 variants for Q6P2P2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1017649553 CA108411011	3	N>Y		No	ClinGen TOPMed
rs757738647 CA358421553	4	S>L		No	ClinGen ExAC gnomAD
CA3098963 rs757738647	4	S>W		No	ClinGen ExAC gnomAD
rs1322429655 CA358421551	5	R>G		No	ClinGen TOPMed
rs1294835217 CA358421545	6	P>A		No	ClinGen gnomAD
rs367977825 CA3098962	6	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs573126682 CA108411005	8	S>Y		No	ClinGen Ensembl
CA3098960 rs760339740	9	R>H		No	ClinGen ExAC TOPMed gnomAD
rs760339740 CA358421526	9	R>P		No	ClinGen ExAC TOPMed gnomAD
rs775350594 CA3098959	10	R>G		No	ClinGen ExAC TOPMed gnomAD
rs766921728 CA3098958	10	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs945187083 CA108410999	11	D>V		No	ClinGen Ensembl
rs554850100 CA3098957	13	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA358421504 rs554850100	13	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770861513 CA3098955	14	G>A		No	ClinGen ExAC gnomAD
rs78226695 CA3098956	14	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA358421502 rs770861513	14	G>D		No	ClinGen ExAC gnomAD
CA108410987 rs78226695	14	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA108410984 rs770861513	14	G>V		No	ClinGen ExAC gnomAD
CA3098954 rs772930739	15	G>A		No	ClinGen ExAC gnomAD
CA3098953 rs772930739	15	G>D		No	ClinGen ExAC gnomAD
CA3098951 rs201765298	16	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3098952 rs201765298	16	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3098950 rs780307019	17	G>V		No	ClinGen ExAC gnomAD
CA3098949 rs139397245	18	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs139397245 CA108410976	18	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs745923861 CA3098948	18	A>V		No	ClinGen ExAC gnomAD
CA358421471 rs1302891736	21	R>P		No	ClinGen TOPMed
rs754402059 CA3098945	21	R>W		No	ClinGen ExAC TOPMed gnomAD
rs368827182 CA3098943	22	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs569321947 CA3098941	23	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA358421462 rs1296170639	23	E>K		No	ClinGen gnomAD
CA3098940 rs767237981	25	V>L		No	ClinGen ExAC gnomAD
rs909755468 CA108410957	26	S>W		No	ClinGen gnomAD
CA358421439 rs1460169705	27	R>Q		No	ClinGen gnomAD
CA3098938 rs375660937	27	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA3098936 rs186529029	28	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA358421432 rs186529029	28	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3098935 rs773196889	29	L>S		No	ClinGen ExAC gnomAD
CA358421424 rs769561039	30	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA3098934 rs769561039	30	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1201206842 CA358421411	31	S>R		No	ClinGen TOPMed
CA3098933 rs761638869	33	E>D		No	ClinGen ExAC
rs1560713461 CA358421399	33	E>V		No	ClinGen Ensembl
rs776325388 CA3098932	34	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1454888101 CA358421393	34	H>R		No	ClinGen gnomAD
rs772292425 CA3098931	35	C>G		No	ClinGen ExAC gnomAD
CA3098930 rs746092147	35	C>S		No	ClinGen ExAC TOPMed gnomAD
rs536598109 CA108410940	37	G>D		No	ClinGen 1000Genomes
CA358421379 rs1294256245	37	G>S		No	ClinGen gnomAD
rs749802393 CA3098926	39	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1388950942 CA358421366	39	Q>R		No	ClinGen TOPMed
CA358421361 rs1300796246	40	D>N		No	ClinGen TOPMed gnomAD
rs547710546 CA3098925	41	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA358421339 rs1390479900	43	T>A		No	ClinGen gnomAD
rs1325063070 CA358421335	43	T>I		No	ClinGen TOPMed
CA358421332 rs1465329967	44	A>S		No	ClinGen TOPMed gnomAD
CA358421334 rs1465329967	44	A>T		No	ClinGen TOPMed gnomAD
CA3098924 rs756514318	44	A>V		No	ClinGen ExAC gnomAD
CA358421325 rs1353218347	45	Y>C		No	ClinGen TOPMed gnomAD
rs1353218347 CA358421324	45	Y>F		No	ClinGen TOPMed gnomAD
TCGA novel	46	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3098923 rs753069673	47	H>P		No	ClinGen ExAC TOPMed gnomAD
CA358421312 rs753069673	47	H>R		No	ClinGen ExAC TOPMed gnomAD
CA358421275 rs1191973499	53	S>G		No	ClinGen gnomAD
rs146901013 CA3098920	53	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762505946 CA358421268	54	L>V		No	ClinGen ExAC TOPMed gnomAD
rs750333318 CA3098917	55	A>T		No	ClinGen ExAC TOPMed gnomAD
rs765123258 CA3098916	55	A>V		No	ClinGen ExAC gnomAD
CA3098915 rs144054978	56	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA358421255 rs1458280729	57	E>K		No	ClinGen TOPMed
CA358421247 rs776433737	58	L>V		No	ClinGen ExAC TOPMed gnomAD
rs768340656 CA3098913	60	H>N		No	ClinGen ExAC gnomAD
CA3098911 rs774496946	63	K>M		No	ClinGen ExAC gnomAD
rs1165328672 CA358420495	64	E>K		No	ClinGen TOPMed gnomAD
rs1165328672 CA358420492	64	E>Q		No	ClinGen TOPMed gnomAD
rs763290300 CA3098888	65	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1186277127 CA358420463	66	F>L		No	ClinGen gnomAD
rs1447075589 CA358420448	66	F>L		No	ClinGen gnomAD
rs915818864 CA108410030	67	Q>L		No	ClinGen Ensembl
CA358420404 rs1203022941	69	T>A		No	ClinGen TOPMed gnomAD
CA358420406 rs1203022941	69	T>P		No	ClinGen TOPMed gnomAD
CA358420408 rs1203022941	69	T>S		No	ClinGen TOPMed gnomAD
CA3098886 rs201893952	71	F>L		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	71	F>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3098884 rs748680852	72	R>G		No	ClinGen ExAC
rs1388654105 CA358420313	75	E>G		No	ClinGen TOPMed
TCGA novel	76	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3098883 rs777058570	76	E>G		No	ClinGen ExAC gnomAD
rs1451717593 CA358420232	80	L>P		No	ClinGen TOPMed gnomAD
rs747298240 CA3098881	80	L>V		No	ClinGen ExAC TOPMed gnomAD
CA108410022 rs200387613	81	S>C		No	ClinGen Ensembl
CA358420212 rs1320293946	81	S>R		No	ClinGen gnomAD
CA3098878 rs140506210	82	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3098879 rs757991114	82	R>W		No	ClinGen ExAC gnomAD
CA3098877 rs375252064	83	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA108410013 rs908820405	83	I>T		No	ClinGen TOPMed gnomAD
rs1406495802 CA358420169	84	Q>H		No	ClinGen Ensembl
CA358420176 rs1380728127	84	Q>P		No	ClinGen TOPMed
CA3098876 rs756776268	85	D>V		No	ClinGen ExAC gnomAD
rs1392285676 CA358420143	86	L>*		No	ClinGen TOPMed gnomAD
rs1162576483 CA358420136	86	L>F		No	ClinGen gnomAD
CA108410009 rs920697274	87	L>I		No	ClinGen Ensembl
CA3098873 rs756105948	90	Y>*		No	ClinGen ExAC gnomAD
rs763980752 CA3098874	90	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA358420061 rs1253201683	93	A>G		No	ClinGen gnomAD
CA358420060 rs1253201683	93	A>V		No	ClinGen gnomAD
CA358420053 rs1578945972	94	L>F		No	ClinGen Ensembl
CA358420030 rs1470093930	98	P>A		No	ClinGen gnomAD
rs1230308694 CA358420026	98	P>L		No	ClinGen TOPMed
rs763201418 CA3098870	100	D>E		No	ClinGen ExAC TOPMed gnomAD
CA108409997 rs868015832	105	N>H		No	ClinGen Ensembl
rs987418222 CA108409995	105	N>S		No	ClinGen TOPMed gnomAD
CA358419964 rs1186401251	107	M>T		No	ClinGen TOPMed
rs377311434 CA3098868	107	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	109	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs151270359 CA3098867	111	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777161780 CA3098866	113	R>*		No	ClinGen ExAC gnomAD
CA3098850 rs762119320	114	M>V		No	ClinGen ExAC gnomAD
CA3098849 rs753803905	116	F>L		No	ClinGen ExAC gnomAD
rs145016611 CA3098848	118	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs145016611 CA107770203	118	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1460262080 CA358371414	119	E>D		No	ClinGen TOPMed
rs1039048311 CA107770202	120	A>P		No	ClinGen TOPMed
CA358371392 rs1172399300	123	Y>C		No	ClinGen gnomAD
CA3098847 rs761082081	126	K>E		No	ClinGen ExAC gnomAD
CA358371356 rs1180668376	128	V>A		No	ClinGen gnomAD
CA107770176 rs1054335624	133	D>A		No	ClinGen Ensembl
rs376456579 CA3098845	135	S>G		No	ClinGen ESP ExAC gnomAD
CA358371311 rs376456579	135	S>R		No	ClinGen ESP ExAC gnomAD
CA358371294 rs1436508010	137	A>T		No	ClinGen TOPMed
CA107770164 rs1004460889	137	A>V		No	ClinGen TOPMed
rs924474397 COSM1051862 CA107770131	139	E>D	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs747281440 CA107770132	139	E>K		No	ClinGen Ensembl
rs780352769 CA3098842	143	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM1427437 CA3098841 rs748981195	143	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA358371245 rs1194215774	144	V>A		No	ClinGen TOPMed gnomAD
CA3098840 rs777076809	145	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs373562511 CA3098839	146	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs373562511 CA358371238	146	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA3098838 rs748085396	149	V>L		No	ClinGen ExAC TOPMed gnomAD
rs781327484 CA3098837	151	R>C		No	ClinGen ExAC gnomAD
rs754788212 CA3098836	151	R>H		No	ClinGen ExAC gnomAD
rs1203860976 CA358371190	152	W>*		No	ClinGen TOPMed
CA3098834 rs779915081	156	M>I		No	ClinGen ExAC TOPMed gnomAD
rs758562120 CA107770068	156	M>V		No	ClinGen Ensembl
rs1257517936 CA358371157	157	L>F		No	ClinGen TOPMed
rs757355823 CA3098833	158	N>S		No	ClinGen ExAC gnomAD
CA358371137 rs1474394479	160	T>A		No	ClinGen TOPMed
rs754157647 CA3098831	165	I>V		No	ClinGen ExAC TOPMed gnomAD
CA107770051 rs920591778	166	Y>C		No	ClinGen gnomAD
rs866825590 CA107770048	167	N>D		No	ClinGen Ensembl
CA3098830 rs764068485	168	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1169363736 CA358371068	170	I>T		No	ClinGen TOPMed
CA358371060 rs1419188213	171	Q>R		No	ClinGen gnomAD
CA358371054 rs1578933255	172	K>T		No	ClinGen Ensembl
CA107770042 rs750514158	174	V>A		No	ClinGen Ensembl
rs760796885 CA3098829	175	C>R		No	ClinGen ExAC gnomAD
rs753175106 CA3098828	176	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1236914489 CA358371028	176	L>W		No	ClinGen gnomAD
rs1245154499 CA358371025	177	G>R		No	ClinGen gnomAD
rs1463128138 CA358371012	179	K>E		No	ClinGen TOPMed
rs760056625 CA3098826	179	K>R		No	ClinGen ExAC gnomAD
rs1308487828 CA358370996	181	V>I		No	ClinGen TOPMed
CA3098824 rs141216537	185	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1335434111 CA358370963	186	A>S		No	ClinGen TOPMed gnomAD
rs1335434111 CA358370965	186	A>T		No	ClinGen TOPMed gnomAD
rs762504536 CA3098823	187	G>*		No	ClinGen ExAC gnomAD
rs772975407 CA3098822	187	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1334878813 CA358370946	189	G>A		No	ClinGen gnomAD
CA3098821 rs769164317	189	G>R		No	ClinGen ExAC gnomAD
CA358370942 rs1432501057	190	I>V		No	ClinGen gnomAD
rs747700633 CA3098820	191	L>P		No	ClinGen ExAC gnomAD
rs953533087 CA107769679	192	S>R		No	ClinGen TOPMed
rs776309889 CA3098819	192	S>T		No	ClinGen ExAC gnomAD
CA107769676 rs954349790	193	M>I		No	ClinGen TOPMed gnomAD
CA358370915 rs1454830133	193	M>L		No	ClinGen gnomAD
CA107769674 rs1029163761	196	K>E		No	ClinGen gnomAD
CA358370890 rs1363494625	196	K>R		No	ClinGen gnomAD
rs1029945619 CA107769673	197	K>E		No	ClinGen TOPMed
CA3098800 rs746930814	197	K>N		No	ClinGen ExAC gnomAD
CA107769671 rs975193980	197	K>R		No	ClinGen Ensembl
TCGA novel	198	A>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	199	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3098798 rs199629261	200	A>T		No	ClinGen ExAC gnomAD
CA107769663 rs998437013	200	A>V		No	ClinGen TOPMed
CA3098797 rs371998541	202	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA358370848 rs1234602852	203	V>E		No	ClinGen gnomAD
rs1273215301 CA358370852	203	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3098793 rs781241677	209	S>A		No	ClinGen ExAC gnomAD
TCGA novel	210	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1221818555 CA358370797	210	K>N		No	ClinGen gnomAD
CA358370786 rs1560704666	212	M>T		No	ClinGen Ensembl
CA358370789 rs1299240593	212	M>V		No	ClinGen gnomAD
TCGA novel	213	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA107769647 rs377219182	218	D>G		No	ClinGen ESP TOPMed
rs533863297 CA3098790	220	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1000730763 CA107769627	221	A>G		No	ClinGen TOPMed gnomAD
rs904622201 CA107769620	222	A>T		No	ClinGen TOPMed
CA358370693 rs1399089112	223	N>S		No	ClinGen Ensembl
CA358370683 rs1173751075	224	K>*		No	ClinGen TOPMed gnomAD
CA358370680 rs1432370030	224	K>R		No	ClinGen gnomAD
rs1284433343 CA358370664	225	M>I		No	ClinGen TOPMed
CA358370672 rs1223030356	225	M>V		No	ClinGen gnomAD
CA3098789 rs73853975	226	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3098788 rs750748145	228	G>V		No	ClinGen ExAC gnomAD
rs765702962 CA3098787	229	I>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	229	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358370626 rs1560704551	230	K>E		No	ClinGen Ensembl
CA3098786 rs761554573	230	K>N		No	ClinGen ExAC TOPMed gnomAD
rs776485785 CA3098785	233	H>R		No	ClinGen ExAC TOPMed gnomAD
rs148469906 CA3098784	234	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1231617406 CA358370558	237	L>I		No	ClinGen gnomAD
CA3098782 rs188951118	238	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA107769553 rs548812349	239	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
CA3098781 rs370622333	239	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs183952880 CA3098780	240	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs149710769 CA107769524	243	K>E		No	ClinGen ESP TOPMed gnomAD
rs1434596422 CA358370489	243	K>N		No	ClinGen TOPMed
CA358370451 rs1415449649	247	E>*		No	ClinGen TOPMed gnomAD
rs1415449649 CA358370453	247	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1301309209 CA358370441	248	R>G		No	ClinGen gnomAD
CA3098757 rs770686854	248	R>S		No	ClinGen ExAC TOPMed gnomAD
CA107768139 COSM3409080 rs201783758	250	S>F	central_nervous_system [Cosmic]	No	ClinGen cosmic curated Ensembl
CA3098756 rs532465857	250	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA358370278 rs1265871195	254	T>S		No	ClinGen gnomAD
CA358370252 rs1209389535	256	T>I		No	ClinGen gnomAD
TCGA novel	256	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1276792913 CA358370238	258	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
RCV003126662 rs200956405 CA3098754 RCV000376426	258	D>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA107768124 rs886142187	260	G>V		No	ClinGen Ensembl
TCGA novel	265	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1350992581 CA358370162	265	G>E		No	ClinGen gnomAD
rs1303930480 CA358370149	267	V>M		No	ClinGen gnomAD
CA3098752 rs780179891	268	E>K		No	ClinGen ExAC gnomAD
CA107768102 rs779886610	269	S>R		No	ClinGen Ensembl
rs1262112147 CA358370128	269	S>R		No	ClinGen gnomAD
rs200390614 CA3098751	269	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147164877 CA3098750	271	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA358370109 rs1283295022	272	H>D		No	ClinGen gnomAD
CA107768071 rs370775299	276	H>R		No	ClinGen ESP
rs1166116509 CA358370076	276	H>Y		No	ClinGen gnomAD
CA358370049 rs1479208450	280	Q>*		No	ClinGen gnomAD
CA358369990 rs1168181051	286	E>D		No	ClinGen TOPMed
CA3098728 rs139463307	286	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	287	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358369980 rs1191797239	288	A>T		No	ClinGen gnomAD
rs147339843 CA3098727	290	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA358369960 rs1465736648	291	E>K		No	ClinGen TOPMed
rs766688278 CA107766241	292	K>Q		No	ClinGen gnomAD
CA358369934 rs1578922814	294	G>E		No	ClinGen Ensembl
rs1175580342 CA358369927	295	K>R		No	ClinGen TOPMed
rs756490708 CA3098725	298	P>T		No	ClinGen ExAC gnomAD
rs780743868 CA3098723	299	A>G		No	ClinGen ExAC gnomAD
rs747809826 CA3098724	299	A>P		No	ClinGen ExAC gnomAD
CA358369888 rs1334488660	301	A>V		No	ClinGen TOPMed
CA358369878 rs1331216820	303	I>K		No	ClinGen gnomAD
CA3098722 rs754690608	303	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1331216820 CA358369877	303	I>T		No	ClinGen gnomAD
CA358369880 rs1209101756	303	I>V		No	ClinGen gnomAD
CA3098721 rs751021005	307	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3098720 rs146854725	311	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA358369806 rs1285401721	313	I>M		No	ClinGen gnomAD
COSM586115 CA3098719 rs376530430	314	R>G	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs750419549 CA3098718	316	H>D		No	ClinGen ExAC gnomAD
CA3098716 rs765061081	316	H>Q		No	ClinGen ExAC gnomAD
CA107766173 rs1006870781	316	H>R		No	ClinGen TOPMed gnomAD
rs761553983 CA3098715	317	H>R		No	ClinGen ExAC TOPMed
CA358369785 rs1458083661	317	H>Y		No	ClinGen TOPMed gnomAD
rs1201539456 CA358369780	318	R>G		No	ClinGen TOPMed
CA358369777 rs1391553285	318	R>K		No	ClinGen gnomAD
CA3098691 rs766541547	320	G>D		No	ClinGen ExAC gnomAD
TCGA novel	321	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358369632 rs1578908839	322	K>E		No	ClinGen Ensembl
rs763160812 CA3098690	324	I>V		No	ClinGen ExAC gnomAD
CA107760894 rs1015814831	327	I>T		No	ClinGen Ensembl
rs1331536965 CA358369562	328	H>Y		No	ClinGen TOPMed
CA3098688 rs148157633	331	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA3098687 rs547796015	332	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1268923518 CA358369507	333	V>L		No	ClinGen gnomAD
rs201773261 CA107760880	334	K>*		No	ClinGen Ensembl
rs184709167 CA107760876	336	Q>L		No	ClinGen 1000Genomes
rs527651670 CA3098686	337	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs143783342 CA3098685	338	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745314340 CA3098681	343	V>I		No	ClinGen ExAC gnomAD
CA107760861 COSM3660915 rs1049828704	345	T>I	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
CA3098680 rs149398115	346	E>K		No	ClinGen ESP ExAC gnomAD
rs753882873 CA3098678	349	I>L		No	ClinGen ExAC TOPMed gnomAD
rs753882873 CA3098679	349	I>V		No	ClinGen ExAC TOPMed gnomAD
rs756018644 CA3098676	353	T>K		No	ClinGen ExAC gnomAD
rs751798445 CA3098675	354	T>A		No	ClinGen ExAC gnomAD
rs1251942167 CA358369341	357	M>V		No	ClinGen gnomAD
rs934886243 CA107760855	358	S>C		No	ClinGen gnomAD
rs552399598 CA3098674	359	R>*		No	ClinGen 1000Genomes ExAC gnomAD
rs552399598 CA358369326	359	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs763286581 CA3098673 COSM1051854	359	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs750410920 CA3098672	360	V>A		No	ClinGen ExAC gnomAD
CA358369307 rs1313170703	362	G>E		No	ClinGen gnomAD
CA3098671 rs765363528	364	Y>H		No	ClinGen ExAC gnomAD
rs370172285 CA3098670	366	A>V		No	ClinGen ESP ExAC gnomAD
CA107760837 rs532214104	370	C>Y		No	ClinGen 1000Genomes
rs1345401684 CA358369224	374	M>I		No	ClinGen gnomAD
rs768979368 CA3098668	379	N>S		No	ClinGen ExAC gnomAD
CA107760826 rs139600323	380	N>S		No	ClinGen 1000Genomes TOPMed
CA358369177 rs1369017713	381	L>F		No	ClinGen gnomAD
rs543162347 CA358369173	382	Q>E		No	ClinGen 1000Genomes TOPMed
CA3098666 rs543162347	382	Q>K		No	ClinGen 1000Genomes TOPMed
rs1466692094 CA358369170	382	Q>R		No	ClinGen gnomAD
CA3098653 rs758481084	385	K>R		No	ClinGen ExAC gnomAD
rs750723678 CA3098652	387	L>F		No	ClinGen ExAC TOPMed gnomAD
CA107759045 rs750723678	387	L>I		No	ClinGen ExAC TOPMed gnomAD
CA107759039 rs1019955531	387	L>P		No	ClinGen Ensembl
rs78250904 CA3098650	388	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3098651 rs145050413	388	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753950462 CA3098649	389	T>A		No	ClinGen ExAC gnomAD
rs1362745089 CA358369098	391	K>N		No	ClinGen gnomAD
rs1187603195 CA358369097	392	P>S		No	ClinGen gnomAD
rs1253630189 CA358369086	393	D>V		No	ClinGen gnomAD
rs764537941 CA3098648	395	I>T		No	ClinGen ExAC gnomAD
rs1486544741 CA358369066	396	G>D		No	ClinGen TOPMed
TCGA novel	396	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1186649538 CA358369051	398	P>L		No	ClinGen TOPMed
rs1269099730 CA358369054	398	P>S		No	ClinGen gnomAD
rs200580518 CA3098646	399	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs200580518 CA3098645	399	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA3098644 rs759101382	400	I>M		No	ClinGen ExAC gnomAD
rs1181471663 CA358369042 COSM1427432	400	I>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1175449195 CA358369028	402	E>G		No	ClinGen TOPMed
rs774105438 CA3098643	403	G>A		No	ClinGen ExAC gnomAD
rs1462413595 CA358369012	405	L>I		No	ClinGen TOPMed gnomAD
CA358369008 rs1237692896	405	L>R		No	ClinGen TOPMed gnomAD
CA3098640 rs748787452	407	A>T		No	ClinGen ExAC gnomAD
CA3098639 rs146548501	407	A>V		No	ClinGen ESP ExAC gnomAD
CA107758946 rs947463160 COSM1618462	408	I>V	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
CA358368987 rs1322257314	409	M>L		No	ClinGen gnomAD
rs1292969661 CA358368951	414	L>F		No	ClinGen TOPMed
CA358368939 rs1432866948	415	Q>H		No	ClinGen gnomAD
CA358368918 rs781127580 CA3098636	418	D>E		No	ClinGen ExAC gnomAD
rs145625390 CA3098637	418	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA107758932 rs533582739	419	E>Q		No	ClinGen 1000Genomes
CA3098635 rs754860338	420	H>N		No	ClinGen ExAC TOPMed gnomAD
CA107758919 rs776220581	420	H>R		No	ClinGen Ensembl
CA3098634 rs746055218	422	L>F		No	ClinGen ExAC TOPMed gnomAD
CA358368889 rs1162551238	423	S>P		No	ClinGen gnomAD
rs755750787 CA107758917	425	S>N		No	ClinGen Ensembl
rs151215653 CA3098633	426	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1281672087 CA358368858	428	E>K		No	ClinGen TOPMed
rs1318299002 CA358368841	430	T>A		No	ClinGen TOPMed
CA358368837 rs1249067654	430	T>I		No	ClinGen TOPMed gnomAD
rs878998028 CA107758902	433	E>Q		No	ClinGen TOPMed
CA358368810 rs1445819354	434	Q>*		No	ClinGen gnomAD
rs753858127 CA3098631	436	V>I		No	ClinGen ExAC gnomAD
CA3098630 rs764165609	437	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs564517370 CA3098628	439	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs142189908 CA3098627	440	Q>*		No	ClinGen ESP ExAC TOPMed
CA358368730 rs1437419814	444	D>A		No	ClinGen gnomAD
rs1201941190 CA358368719	445	Y>*		No	ClinGen gnomAD
rs761448742 CA3098596	445	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA358368702 rs1321395480	448	K>E		No	ClinGen gnomAD
CA358368697 rs754447510 CA107756964	448	K>N		No	ClinGen gnomAD
CA3098595 rs148661515	448	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1184551286 CA358368674	452	H>Y		No	ClinGen TOPMed
rs867679649 CA107756960	456	E>D		No	ClinGen Ensembl
CA358368644 rs1389970527	456	E>K		No	ClinGen TOPMed
rs372927933 CA358368637	457	V>I		No	ClinGen ESP TOPMed gnomAD
rs372927933 CA107756959	457	V>L		No	ClinGen ESP TOPMed gnomAD
CA358368619 rs1335347669	459	C>W		No	ClinGen gnomAD
rs1416514885 CA358368616	460	Q>*		No	ClinGen gnomAD
rs1421016521 CA358368614	460	Q>R		No	ClinGen TOPMed
CA358368603 rs1410096134	461	D>E		No	ClinGen TOPMed
rs768581346 CA3098594	462	C>F		No	ClinGen ExAC gnomAD
rs147603635 CA3098593	463	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747171225 CA3098592	463	Y>*		No	ClinGen ExAC
CA3098590 rs771823588	466	I>N		No	ClinGen ExAC gnomAD
CA3098589 rs145133883	467	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3098588 rs200858338	470	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA107756922 rs1025134447	473	G>S		No	ClinGen TOPMed
CA3098586 rs199919200	476	C>R		No	ClinGen ExAC gnomAD
rs1364249852 CA358368488	478	M>T		No	ClinGen TOPMed
CA3098585 rs781141997	478	M>V		No	ClinGen ExAC gnomAD
CA358368480 rs1242240893	479	D>G		No	ClinGen TOPMed gnomAD
CA358368482 rs1226460034	479	D>H		No	ClinGen TOPMed
rs548422720 CA3098584	480	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1331098655 CA358368468	481	A>S		No	ClinGen gnomAD
rs1340339188 CA358368463	482	K>E		No	ClinGen TOPMed
VAR_039954 CA3098583 rs17023638	483	S>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs17023638 CA358368456	483	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1276629655 CA358368438	485	T>N		No	ClinGen TOPMed
CA107756881 rs1037261522	486	Q>H		No	ClinGen gnomAD
CA358368419 rs1285599905	488	K>E		No	ClinGen gnomAD
CA358368399 rs1449941601	490	L>F		No	ClinGen gnomAD
CA107756873 rs944272685	492	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA358368386 rs944272685	492	S>W		No	ClinGen TOPMed gnomAD
CA3098578 rs764934847	494	G>E	Variant assessed as Somatic; 0.0001387 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs995070350 CA107756852	496	E>K		No	ClinGen TOPMed
CA3098577 rs761571001	498	E>G		No	ClinGen ExAC gnomAD
TCGA novel	498	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1176271058 CA358368326	501	S>N		No	ClinGen TOPMed gnomAD
CA358368323 rs1157085649	502	A>T		No	ClinGen gnomAD
CA3098576 rs753324013	503	L>P		No	ClinGen ExAC gnomAD
rs775341687 CA3098573	504	A>T		No	ClinGen ExAC TOPMed gnomAD
rs542882645 CA3098571	505	N>D		No	ClinGen ExAC TOPMed gnomAD
CA358368306 rs542882645	505	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA3098569 rs769941986	508	T>S		No	ClinGen ExAC TOPMed gnomAD
rs112470944 CA107756814	511	P>L		No	ClinGen Ensembl
rs1177154207 CA358368260	512	D>H		No	ClinGen TOPMed
rs748371032 CA3098568	513	A>V		No	ClinGen ExAC TOPMed gnomAD
CA358368241 rs1560978443	515	E>*		No	ClinGen Ensembl
rs1214902988 CA358368227	516	Q>H		No	ClinGen gnomAD
rs1205230785 CA358368218	518	C>R		No	ClinGen gnomAD
rs1291346039 CA358368208	519	I>T		No	ClinGen gnomAD
CA3098567 rs149240722	519	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA107756760 rs774566430	525	I>M		No	ClinGen Ensembl
CA3098565 rs747526289	525	I>V		No	ClinGen ExAC gnomAD
CA3098564 rs371609584	526	A>S		No	ClinGen ESP ExAC
CA3098563 rs759003872	532	P>A		No	ClinGen ExAC gnomAD
CA358368115 rs1430566726	533	Y>C		No	ClinGen gnomAD
TCGA novel	534	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358368107 rs1578894688	534	H>R		No	ClinGen Ensembl
CA358368101 rs1350560404	535	E>K		No	ClinGen gnomAD
CA107756739 rs878944258	536	G>S		No	ClinGen gnomAD
CA358368070 rs1325802729	539	M>I		No	ClinGen TOPMed
rs1024888817 CA107756725	539	M>R		No	ClinGen gnomAD
CA107756729 rs202062787	539	M>V		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA358368067 rs1451103385	540	A>T		No	ClinGen gnomAD
rs1224655986 CA358368053	541	M>I		No	ClinGen TOPMed
CA358368059 rs1578894596	541	M>V		No	ClinGen Ensembl
rs113446925 CA107756721	542	S>G		No	ClinGen Ensembl
rs766002384 CA3098560	543	K>E		No	ClinGen ExAC
rs766002384 CA107756716	543	K>Q		No	ClinGen ExAC
CA3098559 rs199827425	544	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA358368028 rs1185883159	545	L>F		No	ClinGen TOPMed gnomAD
CA358367991 rs1207193329	551	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs752287364 CA3098557	552	K>I		No	ClinGen ExAC gnomAD
rs752287364 CA3098556	552	K>R		No	ClinGen ExAC gnomAD
rs752287364 CA107756707	552	K>T		No	ClinGen ExAC gnomAD
rs1219591995 CA358367982	553	L>P		No	ClinGen gnomAD
rs188327569 CA3098555	554	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs112950828 CA107756700	555	Q>R		No	ClinGen Ensembl
rs759478496 CA3098554	556	T>I		No	ClinGen ExAC gnomAD
rs774061559 CA3098553	557	M>T		No	ClinGen ExAC gnomAD
CA107756689 rs147098467	559	T>A		No	ClinGen 1000Genomes gnomAD
CA358367939 rs1293818106	560	H>D		No	ClinGen gnomAD
TCGA novel	560	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766224844 CA3098552	563	N>S		No	ClinGen ExAC gnomAD
CA358367903 rs1560978047	564	E>D		No	ClinGen Ensembl
rs1368891149 CA358367909	564	E>K		No	ClinGen TOPMed gnomAD
rs1560978058 CA555545199	565	M>*		No	ClinGen Ensembl
rs1285339736 CA358367886	566	S>R		No	ClinGen gnomAD
rs112218554 CA107756677	567	S>P		No	ClinGen Ensembl
CA3098551 rs368438347	568	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	570	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	570	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358367861 rs1364967340	571	Q>E		No	ClinGen gnomAD
CA358367858 rs1308885592	571	Q>R		No	ClinGen gnomAD
rs776765372 CA3098550	574	T>S		No	ClinGen ExAC gnomAD
CA358367833 rs1415017824	575	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1415017824 CA358367832	575	V>L		No	ClinGen gnomAD
CA3098547 rs374569514	577	N>D		No	ClinGen ESP ExAC gnomAD
rs746446242 CA3098545	583	Y>N		No	ClinGen ExAC gnomAD
CA3098543 rs371580166 COSM4135395	584	V>M	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1204253519 CA358367751	586	D>E		No	ClinGen gnomAD
rs367655758 CA3098542	587	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs755818378 CA3098540	589	E>K		No	ClinGen ExAC gnomAD
CA3098539 rs752086737	590	G>A		No	ClinGen ExAC TOPMed gnomAD
rs866338815 CA107756611	592	S>F		No	ClinGen Ensembl
CA3098538 rs767015993	593	V>A		No	ClinGen ExAC gnomAD
rs139425779 CA3098537	594	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs751553388 CA3098536	596	V>F		No	ClinGen ExAC TOPMed gnomAD
rs751553388 COSM302996 CA358367698	596	V>I	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs751553388 CA358367699	596	V>L		No	ClinGen ExAC TOPMed gnomAD
rs201607320 CA3098535	597	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs541704391 CA3098534	598	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs374390428 CA3098533	599	G>A		No	ClinGen ESP ExAC
rs1301595220 CA358367654	603	Q>H		No	ClinGen TOPMed
CA358367633 rs1407936840	606	P>L		No	ClinGen gnomAD
CA358367628 rs1287809549	607	Y>C		No	ClinGen TOPMed
CA358367631 rs1364950959	607	Y>H		No	ClinGen TOPMed gnomAD
rs1334463630 CA358367623	608	S>G		No	ClinGen TOPMed
CA358367600 rs1578893977	611	E>G		No	ClinGen Ensembl
CA358367581 rs775708248	613	D>E		No	ClinGen ExAC gnomAD
CA3098529 rs141544929	614	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs760098991 CA3098528	614	Q>R		No	ClinGen ExAC gnomAD
CA358367567 rs775041237	615	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA3098526 rs771503214	616	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM205908 rs1426399494 CA358367562	616	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA3098525 rs749570123	617	I>V		No	ClinGen ExAC TOPMed
rs778218066 CA3098524	618	A>T		No	ClinGen ExAC gnomAD
TCGA novel	618	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358367548 rs1560977485	619	L>P		No	ClinGen Ensembl
rs1289071481 CA358367549	619	L>V		No	ClinGen TOPMed
rs1490739794 CA358367545	620	D>N		No	ClinGen TOPMed
rs1250456137 CA358367528	622	I>T		No	ClinGen TOPMed
CA358367521 rs1417215586	623	S>Y		No	ClinGen TOPMed
rs1323416418 CA358367500	626	N>S		No	ClinGen TOPMed gnomAD
CA107756569 rs1049965186	627	H>Q		No	ClinGen TOPMed
CA3098522 rs747860731	628	F>V		No	ClinGen ExAC gnomAD
CA3098521 rs780664768	629	P>L		No	ClinGen ExAC TOPMed gnomAD
CA358367468 COSM732447 rs1161459556	631	E>Q	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA358367457 rs1367606458	632	T>I		No	ClinGen TOPMed
CA3098520 rs754529740	632	T>S		No	ClinGen ExAC gnomAD
CA107756564 rs917726892	634	E>D		No	ClinGen TOPMed gnomAD
CA358367410 rs1384754140	639	H>R		No	ClinGen TOPMed gnomAD
rs1396757577 CA358367412	639	H>Y		No	ClinGen gnomAD
CA3098519 rs751465462	640	V>M		No	ClinGen ExAC gnomAD
TCGA novel	645	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs990991506 CA107756561	646	M>V		No	ClinGen TOPMed
CA107756557 rs932840710	649	R>K		No	ClinGen Ensembl
CA358367333 rs1317648740	650	P>L		No	ClinGen TOPMed
rs779924735 CA3098517	650	P>S		No	ClinGen ExAC gnomAD
rs1361094605 CA358367330	651	K>E		No	ClinGen TOPMed
TCGA novel	651	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358367319 rs1053963742	652	S>*		No	ClinGen TOPMed gnomAD
CA107756547 rs1053963742	652	S>L		No	ClinGen TOPMed gnomAD
CA358367313 rs1273239882	653	D>E		No	ClinGen TOPMed
rs758383196 CA3098516	653	D>G		No	ClinGen ExAC gnomAD
CA107756534 rs936394458	657	S>R		No	ClinGen gnomAD
rs760795444 CA3098513	658	I>M		No	ClinGen ExAC gnomAD
TCGA novel	659	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3098511 rs767676759	660	I>V		No	ClinGen ExAC gnomAD
CA107756517 rs923607161	663	V>A		No	ClinGen Ensembl
CA107756514 rs977783806	664	I>V		No	ClinGen gnomAD
TCGA novel	665	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3098509 rs142877020	667	S>C		No	ClinGen ESP ExAC gnomAD
rs142877020 CA3098508	667	S>Y		No	ClinGen ESP ExAC gnomAD
CA3098507 rs763516738	668	G>R		No	ClinGen ExAC gnomAD
CA358367195 rs1260167973	671	Q>R		No	ClinGen gnomAD
CA358367190 rs1386881603	672	Q>*		No	ClinGen TOPMed
CA107756503 rs200063176	673	E>*		No	ClinGen gnomAD
rs200063176 CA358367183	673	E>K		No	ClinGen gnomAD
CA3098506 rs773441385	673	E>V		No	ClinGen ExAC gnomAD
rs199616123 CA3098505	674	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747773557 CA3098504	675	M>T		No	ClinGen ExAC gnomAD
CA358367160 rs1320223256	676	E>G		No	ClinGen gnomAD
rs538790926 CA3098503	676	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs139380764 CA107756483	681	S>Y		No	ClinGen 1000Genomes
rs765484865 CA3098485	686	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA3098484 rs762123829	690	K>R		No	ClinGen ExAC TOPMed
rs1343014794 CA358366677	691	I>T		No	ClinGen gnomAD
CA3098483 rs370967368	691	I>V		No	ClinGen ESP ExAC gnomAD
rs768239073 CA3098482	693	P>L		No	ClinGen ExAC gnomAD
COSM447459 rs1397695069 CA358366658	694	Q>*	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs112534940 CA107748107	697	L>P		No	ClinGen gnomAD
rs746731362 CA3098481 CA107748106	698	M>I		No	ClinGen ExAC gnomAD
rs1215488439 CA358366626	699	F>L		No	ClinGen gnomAD
rs200715429 CA3098480	703	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3098479 rs771662731	705	S>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel CA3098478 rs745763648	706	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
rs778872333 CA3098477	707	T>I		No	ClinGen ExAC TOPMed gnomAD
rs571257878 CA3098476	709	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1438582076 CA358366559	710	E>K		No	ClinGen gnomAD
rs777719111 CA3098474	711	E>Q		No	ClinGen ExAC
TCGA novel	711	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755243067 CA3098473	712	N>D		No	ClinGen ExAC gnomAD
CA358366524 rs1338746424	715	Q>*		No	ClinGen gnomAD
rs184142821 CA3098472	717	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766343764 CA358366509	717	T>I		No	ClinGen ExAC TOPMed gnomAD
CA3098471 rs766343764	717	T>R		No	ClinGen ExAC TOPMed gnomAD
CA3098470 rs138286974	719	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143676403 CA3098469	719	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA
CA107748082 rs148927587	720	T>A		No	ClinGen ESP TOPMed
CA3098468 rs569498787	722	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA358366472 rs1331361393	724	N>D		No	ClinGen gnomAD
CA3098465 rs559430033	725	I>M		No	ClinGen ExAC TOPMed gnomAD
CA3098466 rs776914600	725	I>T		No	ClinGen ExAC gnomAD
CA107748073 rs778865998	725	I>V		No	ClinGen Ensembl
CA3098438 rs770627113	734	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1204227422 CA358366384	735	P>R		No	ClinGen gnomAD
rs762965104 CA3098437	736	I>T		No	ClinGen ExAC TOPMed gnomAD
CA358366373 rs1316247794	737	R>C		No	ClinGen gnomAD
TCGA novel	737	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3098436 rs138669035	737	R>H	Variant assessed as Somatic; 4.625e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA358366342 rs34852471	741	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3098433 rs780864233	743	S>A		No	ClinGen ExAC TOPMed gnomAD
rs780864233 CA107746333	743	S>P		No	ClinGen ExAC TOPMed gnomAD
CA3098431 rs200951430	744	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3098430 rs142221362	746	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1296335180 CA358366310	747	C>*		No	ClinGen TOPMed
VAR_039955 rs11557361 CA3098429	747	C>Y		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1384328102 CA358366303	748	I>T		No	ClinGen gnomAD
rs1442548409 CA358366307	748	I>V		No	ClinGen gnomAD
CA3098428 rs753948433	749	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3098427 rs374848916	751	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3098426 rs756590512	754	V>A		No	ClinGen ExAC TOPMed gnomAD
CA358366259 rs1482870940	755	E>A		No	ClinGen TOPMed
rs1258002626 CA358366243	757	L>F		No	ClinGen TOPMed
CA107746300 rs983858347	762	M>I		No	ClinGen TOPMed
rs1293501023 CA358366202 COSM273153	763	T>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA358366196 rs1578868440	764	P>L		No	ClinGen Ensembl
TCGA novel	765	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767833597 CA3098423	766	L>W		No	ClinGen ExAC TOPMed gnomAD
CA358366162 rs1289560311	769	S>F		No	ClinGen TOPMed gnomAD
rs1374977580 CA358366166	769	S>P		No	ClinGen TOPMed
CA358366158 rs1215707254	770	N>T		No	ClinGen gnomAD
TCGA novel	771	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs76148346 CA3098407	775	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs77293186 CA3098405	777	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA358366100 rs77293186	777	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3098404 rs372543562	778	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA107746176 rs771551945	783	L>R		No	ClinGen Ensembl
rs1348894685 CA358366044	786	I>V		No	ClinGen TOPMed
rs1456100407 CA358366018	789	W>*		No	ClinGen TOPMed
CA3098400 rs758138750	791	H>R		No	ClinGen ExAC TOPMed gnomAD
CA3098398 rs764720937	792	M>V		No	ClinGen ExAC gnomAD
rs77210874 CA107746143	793	Y>C		No	ClinGen Ensembl
CA358365991 rs1367097310	793	Y>H		No	ClinGen gnomAD
rs1409128555 CA358365981	794	L>P		No	ClinGen TOPMed
rs760412418 CA3098394	798	I>M		No	ClinGen ExAC gnomAD
CA3098396 rs764121997	798	I>S		No	ClinGen ExAC TOPMed gnomAD
CA3098395 rs764121997	798	I>T		No	ClinGen ExAC TOPMed gnomAD
rs568159610 CA3098392	804	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1311613647 CA358365901	806	A>P		No	ClinGen gnomAD
rs142086610 CA107746126	807	S>T		No	ClinGen ESP gnomAD
TCGA novel	813	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3098391 rs749575395	816	L>F		No	ClinGen ExAC gnomAD
CA3098390 rs547875094	817	D>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1453344634 CA358365826	817	D>Y		No	ClinGen gnomAD
rs769809376 CA3098389	821	Q>R		No	ClinGen ExAC gnomAD
rs748662468 CA3098388	822	V>A		No	ClinGen ExAC TOPMed gnomAD
CA358365771 rs1320929234	825	G>R		No	ClinGen gnomAD
rs148609613 CA3098386	827	E>G		No	ClinGen ESP TOPMed gnomAD
CA3098385 rs201070103	829	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs114762309 CA3098384	831	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747323059 CA3098383	831	S>N		No	ClinGen ExAC gnomAD
rs747323059 CA358365731	831	S>T		No	ClinGen ExAC gnomAD
CA3098382 rs780573267	832	I>V		No	ClinGen ExAC gnomAD
rs149853203 CA3098381 CA358365715	833	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1560960449 CA358365694	836	K>R		No	ClinGen Ensembl
CA3098379 rs750409187	840	S>G		No	ClinGen ExAC TOPMed gnomAD
CA358365655 rs113855387	841	I>M		No	ClinGen gnomAD
CA3098377 rs140168370	842	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	846	Q>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1384636443 CA555546074	846	Q>C		No	ClinGen gnomAD

No associated diseases with Q6P2P2

1 regional properties for Q6P2P2

Type	Name	Position	InterPro Accession
repeat	Tetratricopeptide repeat	101 - 134	IPR019734

Functions

		Description
EC Number	2.1.1.320	Methyltransferases
Subcellular Localization	Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

3 GO annotations of molecular function

Name	Definition
protein-arginine N-methyltransferase activity	Catalysis of the reaction: S-adenosyl-L-methionine + (protein)-arginine = S-adenosyl-L-homocysteine + (protein)-N-methyl-arginine.
protein-arginine omega-N monomethyltransferase activity	Catalysis of the addition of a methyl group to either of the unmethylated terminal nitrogen atoms (also called omega nitrogen) in peptidyl-arginine to form an omega-N-G-monomethylated arginine residue. The reaction is S-adenosyl-L-methionine
protein-arginine omega-N symmetric methyltransferase activity	+Catalysis of the addition of a second methyl group to methylated peptidyl-arginine. Methylation is on the terminal nitrogen (omega nitrogen) residue that is not already methylated, resulting in symmetrical peptidyl-N(omega),N'(omega)-dimethyled arginine residues.

2 GO annotations of biological process

Name	Definition
mRNA processing	Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide.
peptidyl-arginine methylation	The addition of a methyl group to an arginine residue in a protein.

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A6QQV6	PRMT7	Protein arginine N-methyltransferase 7	Bos taurus (Bovine)	PR
Q5ZIB9	PRMT7	Protein arginine N-methyltransferase 7	Gallus gallus (Chicken)	PR
Q9W1V1	Art7	Protein arginine N-methyltransferase 7	Drosophila melanogaster (Fruit fly)	PR
Q9NVM4	PRMT7	Protein arginine N-methyltransferase 7	Homo sapiens (Human)	PR
Q922X9	Prmt7	Protein arginine N-methyltransferase 7	Mus musculus (Mouse)	PR
Q3U3W5	Prmt9	Protein arginine N-methyltransferase 9	Mus musculus (Mouse)	PR
Q5U4E8	Prmt7	Protein arginine N-methyltransferase 7	Rattus norvegicus (Rat)	PR
A2AV36	prmt7	Protein arginine N-methyltransferase 7	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MSNSRPRSRR	DAGGGAGAAG	RDELVSRSLQ	SAEHCLGVQD	FGTAYAHYLL	VLSLAPELKH
70	80	90	100	110	120
DVKETFQYTL	FRWAEELDAL	SRIQDLLGCY	EQALELFPDD	EVICNSMGEH	LFRMGFRDEA
130	140	150	160	170	180
AGYFHKAVKL	NPDFSDAKEN	FYRVANWLVE	RWHFIMLNDT	KRNTIYNAAI	QKAVCLGSKS
190	200	210	220	230	240
VLDIGAGTGI	LSMFAKKAGA	HSVYACELSK	TMYELACDVV	AANKMEAGIK	LLHTKSLDIE
250	260	270	280	290	300
IPKHIPERVS	LVVTETVDAG	LFGEGIVESL	IHAWEHLLLQ	PKTKGESANC	EKYGKVIPAS
310	320	330	340	350	360
AVIFGMAVEC	AEIRRHHRVG	IKDIAGIHLP	TNVKFQSPAY	SSVDTEETIE	PYTTEKMSRV
370	380	390	400	410	420
PGGYLALTEC	FEIMTVDFNN	LQELKSLATK	KPDKIGIPVI	KEGILDAIMV	WFVLQLDDEH
430	440	450	460	470	480
SLSTSPSEET	CWEQAVYPVQ	DLADYWIKPG	DHVMMEVSCQ	DCYLRIQSIS	VLGLECEMDV
490	500	510	520	530	540
AKSFTQNKDL	LSLGNEAELC	SALANLQTSK	PDAVEQTCIL	ESTEIALLNN	IPYHEGFKMA
550	560	570	580	590	600
MSKVLSSLTP	EKLYQTMDTH	CQNEMSSGTG	QSNTVQNILE	PFYVLDVSEG	FSVLPVIAGT
610	620	630	640	650	660
LGQVKPYSSV	EKDQHRIALD	LISEANHFPK	ETLEFWLRHV	EDESAMLQRP	KSDKLWSIII
670	680	690	700	710	720
LDVIEPSGLI	QQEIMEKAAI	SRCLLQSGGK	IFPQYVLMFG	LLVESQTLLE	ENAVQGTERT
730	740	750	760	770	780
LGLNIAPFIN	QFQVPIRVFL	DLSSLPCIPL	SKPVELLRLD	LMTPYLNTSN	REVKVYVCKS
790	800	810	820	830	840
GRLTAIPFWY	HMYLDEEIRL	DTSSEASHWK	QAAVVLDNPI	QVEMGEELVL	SIQHHKSNVS

ITVKQ