CleftGeneDB-Search

Gene: ERMP1

Basic information

Tag	Content
Uniprot ID	Q7Z2K6; B2RNA4; B3KSB1; Q8N5T5; Q9H5M1;
Entrez ID	79956
Genbank protein ID	AAH31630.2; BAG52673.1; AAI36774.1; BAB47444.2; BAG54455.1; AAI36772.1; BAB15604.1;
Genbank nucleotide ID	NM_024896.2
Ensembl protein ID	ENSP00000340427; ENSP00000417160;
Ensembl nucleotide ID	ENSG00000099219
Gene name	Endoplasmic reticulum metallopeptidase 1
Gene symbol	ERMP1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Within the ovary, required for the organization of somatic cells and oocytes into discrete follicular structures.
Sequence	MEWGSESAAV RRHRVGVERR EGAAAAPPPE REARAQEPLV DGCSGGGRTR KRSPGGSGGA 60 SRGAGTGLSE VRAALGLALY LIALRTLVQL SLQQLVLRGA AGHRGEFDAL QARDYLEHIT 120 SIGPRTTGSP ENEILTVHYL LEQIKLIEVQ SNSLHKISVD VQRPTGSFSI DFLGGFTSYY 180 DNITNVVVKL EPRDGAQHAV LANCHFDSVA NSPGASDDAV SCSVMLEVLR VLSTSSEALH 240 HAVIFLFNGA EENVLQASHG FITQHPWASL IRAFINLEAA GVGGKELVFQ TGPENPWLVQ 300 AYVSAAKHPF ASVVAQEVFQ SGIIPSDTDF RIYRDFGNIP GIDLAFIENG YIYHTKYDTA 360 DRILTDSIQR AGDNILAVLK HLATSDMLAA ASKYRHGNMV FFDVLGLFVI AYPSRIGSII 420 NYMVVMGVVL YLGKKFLQPK HKTGNYKKDF LCGLGITLIS WFTSLVTVLI IAVFISLIGQ 480 SLSWYNHFYV SVCLYGTATV AKIILIHTLA KRFYYMNASA QYLGEVFFDI SLFVHCCFLV 540 TLTYQGLCSA FISAVWVAFP LLTKLCVHKD FKQHGAQGKF IAFYLLGMFI PYLYALYLIW 600 AVFEMFTPIL GRSGSEIPPD VVLASILAGC TMILSSYFIN FIYLAKSTKK TMLTLTLVCA 660 ITFLLVCSGT FFPYSSNPAN PKPKRVFLQH MTRTFHDLEG NAVKRDSGIW INGFDYTGIS 720 HITPHIPEIN DSIRAHCEEN APLCGFPWYL PVHFLIRKNW YLPAPEVSPR NPPHFRLISK 780 EQTPWDSIKL TFEATGPSHM SFYVRAHKGS TLSQWSLGNG TPVTSKGGDY FVFYSHGLQA 840 SAWQFWIEVQ VSEEHPEGMV TVAIAAHYLS GEDKRSPQLD ALKEKFPDWT FPSAWVCTYD 900 LFVF 904

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	ERMP1		A0A452G9M4		Capra hircus	Prediction	More>>
1:1 ortholog	ERMP1	79956	Q7Z2K6		Homo sapiens	Prediction	More>>
1:1 ortholog	Ermp1	226090	Q3UVK0	CPO,CLP,CLO	Mus musculus	Publication	More>>
1:1 ortholog	ERMP1	464983	H2QX00		Pan troglodytes	Prediction	More>>
1:1 ortholog	ERMP1		F1SMM0		Sus scrofa	Prediction	More>>
1:1 ortholog	Ermp1		F1M6W2		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs755968458	p.Glu2Asp	missense variant	-	NC_000009.12:g.5833022C>G	ExAC,TOPMed,gnomAD
rs1387222073	p.Glu2Gln	missense variant	-	NC_000009.12:g.5833024C>G	TOPMed,gnomAD
rs1432745654	p.Glu2Gly	missense variant	-	NC_000009.12:g.5833023T>C	TOPMed
rs750298178	p.Trp3Cys	missense variant	-	NC_000009.12:g.5833019C>A	ExAC,gnomAD
rs889264438	p.Trp3Ter	stop gained	-	NC_000009.12:g.5833020C>T	gnomAD
rs889264438	p.Trp3Leu	missense variant	-	NC_000009.12:g.5833020C>A	gnomAD
rs1378009856	p.Gly4Ser	missense variant	-	NC_000009.12:g.5833018C>T	gnomAD
rs1177461893	p.Gly4Ala	missense variant	-	NC_000009.12:g.5833017C>G	gnomAD
rs756748361	p.Glu6Asp	missense variant	-	NC_000009.12:g.5833010C>G	ExAC,gnomAD
rs781157785	p.Glu6Gln	missense variant	-	NC_000009.12:g.5833012C>G	ExAC,TOPMed,gnomAD
rs1185893113	p.Ser7Leu	missense variant	-	NC_000009.12:g.5833008G>A	TOPMed,gnomAD
rs1185893113	p.Ser7Trp	missense variant	-	NC_000009.12:g.5833008G>C	TOPMed,gnomAD
rs757934536	p.Ala8Gly	missense variant	-	NC_000009.12:g.5833005G>C	ExAC,TOPMed,gnomAD
rs751140231	p.Ala8Thr	missense variant	-	NC_000009.12:g.5833006C>T	ExAC,TOPMed,gnomAD
rs757934536	p.Ala8Val	missense variant	-	NC_000009.12:g.5833005G>A	ExAC,TOPMed,gnomAD
rs1159293426	p.Ala9Thr	missense variant	-	NC_000009.12:g.5833003C>T	TOPMed,gnomAD
rs1352125261	p.Val10Leu	missense variant	-	NC_000009.12:g.5833000C>G	gnomAD
rs1375830180	p.His13Arg	missense variant	-	NC_000009.12:g.5832990T>C	TOPMed,gnomAD
rs759981818	p.His13Gln	missense variant	-	NC_000009.12:g.5832989G>C	ExAC,TOPMed,gnomAD
rs1375830180	p.His13Pro	missense variant	-	NC_000009.12:g.5832990T>G	TOPMed,gnomAD
rs1240898321	p.His13Tyr	missense variant	-	NC_000009.12:g.5832991G>A	gnomAD
rs759981818	p.His13Gln	missense variant	-	NC_000009.12:g.5832989G>T	ExAC,TOPMed,gnomAD
rs1037024464	p.Arg14His	missense variant	-	NC_000009.12:g.5832987C>T	gnomAD
rs777252952	p.Arg14Cys	missense variant	-	NC_000009.12:g.5832988G>A	ExAC,gnomAD
rs1313249324	p.Val15Ile	missense variant	-	NC_000009.12:g.5832985C>T	gnomAD
rs1436576077	p.Val15Asp	missense variant	-	NC_000009.12:g.5832984A>T	gnomAD
rs1358473891	p.Gly16Arg	missense variant	-	NC_000009.12:g.5832982C>T	gnomAD
rs767049203	p.Val17Ala	missense variant	-	NC_000009.12:g.5832978A>G	ExAC,gnomAD
rs760830703	p.Glu18Asp	missense variant	-	NC_000009.12:g.5832974C>A	ExAC,gnomAD
rs1461094893	p.Glu18Gln	missense variant	-	NC_000009.12:g.5832976C>G	TOPMed
rs1161699419	p.Arg20Gln	missense variant	-	NC_000009.12:g.5832969C>T	TOPMed
rs772206301	p.Gly22Ter	stop gained	-	NC_000009.12:g.5832964C>A	ExAC,gnomAD
rs372868521	p.Gly22Ala	missense variant	-	NC_000009.12:g.5832963C>G	ESP,ExAC,TOPMed,gnomAD
rs372868521	p.Gly22Glu	missense variant	-	NC_000009.12:g.5832963C>T	ESP,ExAC,TOPMed,gnomAD
rs865822475	p.Ala23Glu	missense variant	-	NC_000009.12:g.5832960G>T	TOPMed,gnomAD
rs865822475	p.Ala23Val	missense variant	-	NC_000009.12:g.5832960G>A	TOPMed,gnomAD
rs774674602	p.Ala24Val	missense variant	-	NC_000009.12:g.5832957G>A	ExAC,TOPMed,gnomAD
rs925954419	p.Ala25Thr	missense variant	-	NC_000009.12:g.5832955C>T	TOPMed
rs769454676	p.Ala26Pro	missense variant	-	NC_000009.12:g.5832952C>G	ExAC
rs1263043580	p.Pro28Thr	missense variant	-	NC_000009.12:g.5832946G>T	gnomAD
rs1263043580	p.Pro28Ser	missense variant	-	NC_000009.12:g.5832946G>A	gnomAD
rs745722281	p.Glu30Asp	missense variant	-	NC_000009.12:g.5832938C>G	ExAC,gnomAD
rs1318856038	p.Glu30Gly	missense variant	-	NC_000009.12:g.5832939T>C	gnomAD
NCI-TCGA novel	p.Glu30Lys	missense variant	-	NC_000009.12:g.5832940C>T	NCI-TCGA
rs1357315526	p.Glu32Gln	missense variant	-	NC_000009.12:g.5832934C>G	TOPMed,gnomAD
rs757122204	p.Ala33Val	missense variant	-	NC_000009.12:g.5832930G>A	ExAC,gnomAD
rs13283149	p.Arg34Gly	missense variant	-	NC_000009.12:g.5832928G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1297459400	p.Ala35Ser	missense variant	-	NC_000009.12:g.5832925C>A	TOPMed,gnomAD
rs1297459400	p.Ala35Thr	missense variant	-	NC_000009.12:g.5832925C>T	TOPMed,gnomAD
rs1487575209	p.Gln36Glu	missense variant	-	NC_000009.12:g.5832922G>C	TOPMed
rs981309008	p.Glu37Lys	missense variant	-	NC_000009.12:g.5832919C>T	gnomAD
rs971219340	p.Pro38Ala	missense variant	-	NC_000009.12:g.5832916G>C	gnomAD
rs971219340	p.Pro38Ser	missense variant	-	NC_000009.12:g.5832916G>A	gnomAD
rs1418058343	p.Leu39Val	missense variant	-	NC_000009.12:g.5832913G>C	gnomAD
rs986669443	p.Val40Leu	missense variant	-	NC_000009.12:g.5832910C>A	TOPMed,gnomAD
rs1187668750	p.Gly42Glu	missense variant	-	NC_000009.12:g.5832903C>T	gnomAD
rs1185601808	p.Cys43Phe	missense variant	-	NC_000009.12:g.5832900C>A	TOPMed
rs1220842866	p.Gly46Cys	missense variant	-	NC_000009.12:g.5832892C>A	gnomAD
rs1469085427	p.Arg48Gly	missense variant	-	NC_000009.12:g.5832886T>C	gnomAD
rs1275228842	p.Arg48Thr	missense variant	-	NC_000009.12:g.5832885C>G	gnomAD
rs1234937879	p.Thr49Ala	missense variant	-	NC_000009.12:g.5832883T>C	gnomAD
rs764987253	p.Thr49Met	missense variant	-	NC_000009.12:g.5832882G>A	ExAC,TOPMed,gnomAD
rs764987253	p.Thr49Lys	missense variant	-	NC_000009.12:g.5832882G>T	ExAC,TOPMed,gnomAD
rs1294554133	p.Arg50Leu	missense variant	-	NC_000009.12:g.5832879C>A	gnomAD
rs1359722006	p.Gly55Arg	missense variant	-	NC_000009.12:g.5832865C>T	TOPMed
rs1417733935	p.Gly55Val	missense variant	-	NC_000009.12:g.5832864C>A	TOPMed
rs1423427821	p.Gly56Asp	missense variant	-	NC_000009.12:g.5832861C>T	TOPMed,gnomAD
rs773878188	p.Gly56Cys	missense variant	-	NC_000009.12:g.5832862C>A	ExAC,TOPMed,gnomAD
rs773878188	p.Gly56Ser	missense variant	-	NC_000009.12:g.5832862C>T	ExAC,TOPMed,gnomAD
rs1423427821	p.Gly56Ala	missense variant	-	NC_000009.12:g.5832861C>G	TOPMed,gnomAD
rs1423427821	p.Gly56Val	missense variant	-	NC_000009.12:g.5832861C>A	TOPMed,gnomAD
rs1423611246	p.Ser57Thr	missense variant	-	NC_000009.12:g.5832858C>G	TOPMed,gnomAD
rs1430814466	p.Ser57Gly	missense variant	-	NC_000009.12:g.5832859T>C	gnomAD
rs767463497	p.Ser57Arg	missense variant	-	NC_000009.12:g.5832857G>C	ExAC,TOPMed,gnomAD
rs1423611246	p.Ser57Ile	missense variant	-	NC_000009.12:g.5832858C>A	TOPMed,gnomAD
rs762003092	p.Gly58Arg	missense variant	-	NC_000009.12:g.5832856C>G	ExAC,TOPMed,gnomAD
rs1197037189	p.Gly59Ser	missense variant	-	NC_000009.12:g.5832853C>T	TOPMed,gnomAD
rs1004269145	p.Gly59Asp	missense variant	-	NC_000009.12:g.5832852C>T	TOPMed
rs1197037189	p.Gly59Cys	missense variant	-	NC_000009.12:g.5832853C>A	TOPMed,gnomAD
rs528252782	p.Ala60Val	missense variant	-	NC_000009.12:g.5832849G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs774424647	p.Ala60Pro	missense variant	-	NC_000009.12:g.5832850C>G	ExAC,gnomAD
rs774424647	p.Ala60Ser	missense variant	-	NC_000009.12:g.5832850C>A	ExAC,gnomAD
rs774424647	p.Ala60Thr	missense variant	-	NC_000009.12:g.5832850C>T	ExAC,gnomAD
rs1309214048	p.Ser61Ile	missense variant	-	NC_000009.12:g.5832846C>A	gnomAD
rs1299061061	p.Ser61Arg	missense variant	-	NC_000009.12:g.5832845G>C	gnomAD
rs1198801022	p.Arg62Ser	missense variant	-	NC_000009.12:g.5832842C>G	TOPMed
rs1233438350	p.Gly63Ser	missense variant	-	NC_000009.12:g.5832841C>T	gnomAD
rs62638713	p.Gly63Ala	missense variant	-	NC_000009.12:g.5832840C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs62638713	p.Gly63Val	missense variant	-	NC_000009.12:g.5832840C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs62638713	p.Gly63Asp	missense variant	-	NC_000009.12:g.5832840C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs902016612	p.Ala64Ser	missense variant	-	NC_000009.12:g.5832838C>A	TOPMed,gnomAD
rs902016612	p.Ala64Thr	missense variant	-	NC_000009.12:g.5832838C>T	TOPMed,gnomAD
rs777802278	p.Ala64Val	missense variant	-	NC_000009.12:g.5832837G>A	ExAC,gnomAD
rs1299114366	p.Gly65Glu	missense variant	-	NC_000009.12:g.5832834C>T	gnomAD
rs1181390930	p.Gly67Arg	missense variant	-	NC_000009.12:g.5832829C>G	TOPMed
rs1437599106	p.Leu68Pro	missense variant	-	NC_000009.12:g.5832825A>G	TOPMed
rs1176022949	p.Leu68Val	missense variant	-	NC_000009.12:g.5832826G>C	TOPMed,gnomAD
rs747748510	p.Ser69Cys	missense variant	-	NC_000009.12:g.5832822G>C	ExAC,TOPMed,gnomAD
rs950227442	p.Ser69Pro	missense variant	-	NC_000009.12:g.5832823A>G	TOPMed,gnomAD
rs1005565745	p.Val71Leu	missense variant	-	NC_000009.12:g.5832817C>A	gnomAD
rs1005565745	p.Val71Met	missense variant	-	NC_000009.12:g.5832817C>T	gnomAD
rs1177605480	p.Arg72Cys	missense variant	-	NC_000009.12:g.5832814G>A	gnomAD
rs910451071	p.Ala73Pro	missense variant	-	NC_000009.12:g.5832811C>G	TOPMed
rs910451071	p.Ala73Ser	missense variant	-	NC_000009.12:g.5832811C>A	TOPMed
rs1330298865	p.Ala73Val	missense variant	-	NC_000009.12:g.5832810G>A	TOPMed
rs4145822	p.Ala74Gly	missense variant	-	NC_000009.12:g.5832807G>C	TOPMed,gnomAD
rs4145822	p.Ala74Val	missense variant	-	NC_000009.12:g.5832807G>A	TOPMed,gnomAD
rs1254005250	p.Leu75Met	missense variant	-	NC_000009.12:g.5832805G>T	gnomAD
rs1254005250	p.Leu75Val	missense variant	-	NC_000009.12:g.5832805G>C	gnomAD
rs1210152808	p.Gly76Arg	missense variant	-	NC_000009.12:g.5832802C>T	gnomAD
rs1281849099	p.Ala78Ser	missense variant	-	NC_000009.12:g.5832796C>A	TOPMed,gnomAD
rs754608712	p.Ala78Val	missense variant	-	NC_000009.12:g.5832795G>A	ExAC,gnomAD
rs753557373	p.Tyr80Cys	missense variant	-	NC_000009.12:g.5832789T>C	ExAC,TOPMed,gnomAD
rs1392739572	p.Tyr80Ter	stop gained	-	NC_000009.12:g.5832788G>T	TOPMed,gnomAD
rs753557373	p.Tyr80Ser	missense variant	-	NC_000009.12:g.5832789T>G	ExAC,TOPMed,gnomAD
rs559155223	p.Ile82Met	missense variant	-	NC_000009.12:g.5832782G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs768129459	p.Ala83Thr	missense variant	-	NC_000009.12:g.5832781C>T	ExAC,TOPMed,gnomAD
rs1156942274	p.Leu84Val	missense variant	-	NC_000009.12:g.5832778G>C	gnomAD
rs1161620750	p.Arg85Gln	missense variant	-	NC_000009.12:g.5832774C>T	gnomAD
rs1364428511	p.Arg85Trp	missense variant	-	NC_000009.12:g.5832775G>A	gnomAD
rs1422273090	p.Thr86Met	missense variant	-	NC_000009.12:g.5832771G>A	gnomAD
rs1253901527	p.Leu87Val	missense variant	-	NC_000009.12:g.5832769G>C	gnomAD
rs1462052385	p.Gln89Arg	missense variant	-	NC_000009.12:g.5832762T>C	TOPMed
rs1259468215	p.Leu90Pro	missense variant	-	NC_000009.12:g.5832759A>G	gnomAD
rs1397652858	p.Ser91Ala	missense variant	-	NC_000009.12:g.5832757A>C	TOPMed
rs949833495	p.Leu92Pro	missense variant	-	NC_000009.12:g.5832753A>G	gnomAD
rs949833495	p.Leu92Gln	missense variant	-	NC_000009.12:g.5832753A>T	gnomAD
rs775716980	p.Gln94Ter	stop gained	-	NC_000009.12:g.5832748G>A	ExAC,gnomAD
rs1362513738	p.Leu95Phe	missense variant	-	NC_000009.12:g.5832745G>A	gnomAD
rs554983063	p.Val96Leu	missense variant	-	NC_000009.12:g.5832742C>G	1000Genomes,ExAC
rs1240814042	p.Val96Ala	missense variant	-	NC_000009.12:g.5832741A>G	gnomAD
rs987517490	p.Leu97Pro	missense variant	-	NC_000009.12:g.5832738A>G	TOPMed
rs1293064392	p.Arg98Leu	missense variant	-	NC_000009.12:g.5832735C>A	gnomAD
rs1293064392	p.Arg98His	missense variant	-	NC_000009.12:g.5832735C>T	gnomAD
rs1319545456	p.Arg98Cys	missense variant	-	NC_000009.12:g.5832736G>A	TOPMed,gnomAD
rs1296935295	p.Gly99Val	missense variant	-	NC_000009.12:g.5832732C>A	gnomAD
rs1357937089	p.Gly99Trp	missense variant	-	NC_000009.12:g.5832733C>A	TOPMed,gnomAD
rs1357937089	p.Gly99Arg	missense variant	-	NC_000009.12:g.5832733C>T	TOPMed,gnomAD
rs1296935295	p.Gly99Glu	missense variant	-	NC_000009.12:g.5832732C>T	gnomAD
rs1385837680	p.Ala100Asp	missense variant	-	NC_000009.12:g.5832729G>T	gnomAD
rs1385837680	p.Ala100Val	missense variant	-	NC_000009.12:g.5832729G>A	gnomAD
rs1382138181	p.Ala100Thr	missense variant	-	NC_000009.12:g.5832730C>T	gnomAD
rs1417349539	p.Ala101Asp	missense variant	-	NC_000009.12:g.5832726G>T	gnomAD
rs778430803	p.Ala101Pro	missense variant	-	NC_000009.12:g.5832727C>G	ExAC,TOPMed,gnomAD
rs778430803	p.Ala101Ser	missense variant	-	NC_000009.12:g.5832727C>A	ExAC,TOPMed,gnomAD
rs778430803	p.Ala101Thr	missense variant	-	NC_000009.12:g.5832727C>T	ExAC,TOPMed,gnomAD
rs569339868	p.His103Tyr	missense variant	-	NC_000009.12:g.5832721G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs13302671	p.His103Gln	missense variant	-	NC_000009.12:g.5832719G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1488051500	p.His103Arg	missense variant	-	NC_000009.12:g.5832720T>C	TOPMed
rs750864682	p.Arg104Ser	missense variant	-	NC_000009.12:g.5832718G>T	ExAC,gnomAD
rs750864682	p.Arg104Cys	missense variant	-	NC_000009.12:g.5832718G>A	ExAC,gnomAD
rs538779481	p.Gly105Arg	missense variant	-	NC_000009.12:g.5832715C>T	1000Genomes,ExAC,gnomAD
rs538779481	p.Gly105Trp	missense variant	-	NC_000009.12:g.5832715C>A	1000Genomes,ExAC,gnomAD
rs1192268366	p.Phe107Val	missense variant	-	NC_000009.12:g.5832709A>C	TOPMed
rs1272090139	p.Phe107Leu	missense variant	-	NC_000009.12:g.5832707G>C	gnomAD
rs571350661	p.Ala109Glu	missense variant	-	NC_000009.12:g.5832702G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs571350661	p.Ala109Gly	missense variant	-	NC_000009.12:g.5832702G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1412024999	p.Ala112Val	missense variant	-	NC_000009.12:g.5832693G>A	gnomAD
rs761553950	p.Arg113Ser	missense variant	-	NC_000009.12:g.5831028C>G	ExAC,gnomAD
rs1438797989	p.Asp114Tyr	missense variant	-	NC_000009.12:g.5831027C>A	TOPMed,gnomAD
rs1438797989	p.Asp114Asn	missense variant	-	NC_000009.12:g.5831027C>T	TOPMed,gnomAD
rs774417762	p.Asp114Val	missense variant	-	NC_000009.12:g.5831026T>A	ExAC,TOPMed,gnomAD
rs749861383	p.Tyr115His	missense variant	-	NC_000009.12:g.5831024A>G	ExAC,gnomAD
rs1225611819	p.Leu116Pro	missense variant	-	NC_000009.12:g.5831020A>G	TOPMed
rs762987060	p.Glu117Lys	missense variant	-	NC_000009.12:g.5831018C>T	ExAC,TOPMed,gnomAD
rs1461612251	p.Ser121Cys	missense variant	-	NC_000009.12:g.5831005G>C	TOPMed
rs1281132438	p.Ile122Val	missense variant	-	NC_000009.12:g.5831003T>C	gnomAD
rs1202863576	p.Thr126Ser	missense variant	-	NC_000009.12:g.5830990G>C	TOPMed
rs1351806649	p.Glu131Gln	missense variant	-	NC_000009.12:g.5830976C>G	gnomAD
rs1443163191	p.Leu135Val	missense variant	-	NC_000009.12:g.5830964G>C	TOPMed,gnomAD
rs776183114	p.Val137Leu	missense variant	-	NC_000009.12:g.5830958C>G	ExAC,gnomAD
rs1173743615	p.His138Pro	missense variant	-	NC_000009.12:g.5830954T>G	TOPMed,gnomAD
rs990176768	p.His138Gln	missense variant	-	NC_000009.12:g.5830953G>C	TOPMed,gnomAD
rs1173743615	p.His138Arg	missense variant	-	NC_000009.12:g.5830954T>C	TOPMed,gnomAD
rs1181843141	p.His138Tyr	missense variant	-	NC_000009.12:g.5830955G>A	TOPMed
rs1405125224	p.Tyr139Cys	missense variant	-	NC_000009.12:g.5830951T>C	gnomAD
rs140054744	p.Leu140Phe	missense variant	-	NC_000009.12:g.5830949G>A	ESP,ExAC,TOPMed,gnomAD
rs1186172857	p.Leu146Val	missense variant	-	NC_000009.12:g.5830931G>C	TOPMed,gnomAD
rs1471997068	p.Ile147Thr	missense variant	-	NC_000009.12:g.5830927A>G	TOPMed,gnomAD
COSM1490051	p.Val149Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5830922C>G	NCI-TCGA Cosmic
rs1485636624	p.Gln150Glu	missense variant	-	NC_000009.12:g.5830919G>C	gnomAD
rs1258767540	p.Ser151Gly	missense variant	-	NC_000009.12:g.5830916T>C	TOPMed,gnomAD
rs147487541	p.Ser151Arg	missense variant	-	NC_000009.12:g.5830914G>C	ESP,ExAC,gnomAD
rs748669425	p.Asn152Asp	missense variant	-	NC_000009.12:g.5830913T>C	ExAC,gnomAD
rs1224612765	p.Asn152Lys	missense variant	-	NC_000009.12:g.5830911G>C	gnomAD
rs1283635950	p.Asn152Ser	missense variant	-	NC_000009.12:g.5830912T>C	gnomAD
rs1406931015	p.Ser153Gly	missense variant	-	NC_000009.12:g.5830910T>C	TOPMed
rs529357728	p.Ser153Asn	missense variant	-	NC_000009.12:g.5830909C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1281088411	p.Ser153Arg	missense variant	-	NC_000009.12:g.5830908G>C	TOPMed,gnomAD
rs1178591469	p.Leu154Arg	missense variant	-	NC_000009.12:g.5830906A>C	TOPMed,gnomAD
rs377629831	p.Leu154Val	missense variant	-	NC_000009.12:g.5830907G>C	ESP,ExAC,TOPMed,gnomAD
rs191439805	p.His155Tyr	missense variant	-	NC_000009.12:g.5830904G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs757070166	p.His155Arg	missense variant	-	NC_000009.12:g.5830903T>C	ExAC,TOPMed,gnomAD
rs757070166	p.His155Pro	missense variant	-	NC_000009.12:g.5830903T>G	ExAC,TOPMed,gnomAD
rs1416522687	p.Lys156Glu	missense variant	-	NC_000009.12:g.5830901T>C	gnomAD
NCI-TCGA novel	p.Lys156Thr	missense variant	-	NC_000009.12:g.5830900T>G	NCI-TCGA
rs751332099	p.Ser158Leu	missense variant	-	NC_000009.12:g.5830894G>A	ExAC,TOPMed,gnomAD
rs763992747	p.Val159Ala	missense variant	-	NC_000009.12:g.5830891A>G	ExAC,gnomAD
rs762934035	p.Asp160Gly	missense variant	-	NC_000009.12:g.5830888T>C	ExAC,gnomAD
rs1400935281	p.Asp160Asn	missense variant	-	NC_000009.12:g.5830889C>T	gnomAD
rs1163248177	p.Asp160Glu	missense variant	-	NC_000009.12:g.5830887A>C	gnomAD
rs1201047789	p.Val161Ala	missense variant	-	NC_000009.12:g.5830885A>G	TOPMed
rs1269121386	p.Gln162Glu	missense variant	-	NC_000009.12:g.5830883G>C	TOPMed
rs1174664553	p.Arg163Gln	missense variant	-	NC_000009.12:g.5830879C>T	TOPMed
rs1418986910	p.Arg163Trp	missense variant	-	NC_000009.12:g.5830880G>A	gnomAD
rs759013483	p.Pro164Leu	missense variant	-	NC_000009.12:g.5830876G>A	ExAC,TOPMed,gnomAD
rs764770709	p.Pro164Ser	missense variant	-	NC_000009.12:g.5830877G>A	ExAC,TOPMed,gnomAD
rs1207814867	p.Gly166Val	missense variant	-	NC_000009.12:g.5830870C>A	gnomAD
NCI-TCGA novel	p.Ser169Asn	missense variant	-	NC_000009.12:g.5830861C>T	NCI-TCGA
rs199943247	p.Ile170Met	missense variant	-	NC_000009.12:g.5830857A>C	TOPMed
rs141447627	p.Asp171Asn	missense variant	-	NC_000009.12:g.5830856C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp171Tyr	missense variant	-	NC_000009.12:g.5830856C>A	NCI-TCGA
rs898148275	p.Phe172Ser	missense variant	-	NC_000009.12:g.5830852A>G	gnomAD
rs1271463989	p.Phe172Ile	missense variant	-	NC_000009.12:g.5830853A>T	gnomAD
NCI-TCGA novel	p.Phe172Leu	missense variant	-	NC_000009.12:g.5830851G>T	NCI-TCGA
rs148300043	p.Gly174Glu	missense variant	-	NC_000009.12:g.5830846C>T	ESP,ExAC,TOPMed,gnomAD
rs773511760	p.Gly175Ser	missense variant	-	NC_000009.12:g.5830844C>T	ExAC,gnomAD
rs772450366	p.Thr177Arg	missense variant	-	NC_000009.12:g.5830837G>C	ExAC,gnomAD
rs748615944	p.Tyr179His	missense variant	-	NC_000009.12:g.5830832A>G	ExAC,TOPMed,gnomAD
rs779437476	p.Tyr179Cys	missense variant	-	NC_000009.12:g.5830831T>C	ExAC,TOPMed,gnomAD
rs780186073	p.Asn182Thr	missense variant	-	NC_000009.12:g.5830822T>G	ExAC,TOPMed,gnomAD
rs780186073	p.Asn182Ser	missense variant	-	NC_000009.12:g.5830822T>C	ExAC,TOPMed,gnomAD
rs1460570334	p.Ile183Val	missense variant	-	NC_000009.12:g.5830820T>C	gnomAD
rs756231116	p.Asn185Lys	missense variant	-	NC_000009.12:g.5830812A>T	ExAC,gnomAD
rs1250691213	p.Val186Ile	missense variant	-	NC_000009.12:g.5830811C>T	TOPMed
rs777668094	p.Lys189Met	missense variant	-	NC_000009.12:g.5830801T>A	ExAC
rs1305029251	p.Leu190Val	missense variant	-	NC_000009.12:g.5830799G>C	gnomAD
rs758305961	p.Pro192Leu	missense variant	-	NC_000009.12:g.5830792G>A	ExAC,TOPMed,gnomAD
rs1189102198	p.Arg193Ser	missense variant	-	NC_000009.12:g.5830788T>G	TOPMed
rs62638714	p.Arg193Thr	missense variant	-	NC_000009.12:g.5830789C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149335278	p.Asp194Gly	missense variant	-	NC_000009.12:g.5830786T>C	ESP,ExAC,TOPMed,gnomAD
rs187506460	p.Gly195Glu	missense variant	-	NC_000009.12:g.5830783C>T	1000Genomes,ESP,ExAC,gnomAD
rs765930579	p.Ala196Ser	missense variant	-	NC_000009.12:g.5830781C>A	ExAC,gnomAD
rs1283954909	p.Ala196Gly	missense variant	-	NC_000009.12:g.5830780G>C	gnomAD
rs1215052182	p.His198Arg	missense variant	-	NC_000009.12:g.5830774T>C	gnomAD
rs772884929	p.His198Tyr	missense variant	-	NC_000009.12:g.5830775G>A	ExAC,gnomAD
rs1193002265	p.Ala199Gly	missense variant	-	NC_000009.12:g.5830771G>C	TOPMed
rs545806699	p.Ala202Thr	missense variant	-	NC_000009.12:g.5830763C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201638481	p.Asn203His	missense variant	-	NC_000009.12:g.5830760T>G	ExAC,gnomAD
rs961810084	p.Cys204Ser	missense variant	-	NC_000009.12:g.5830757A>T	TOPMed
NCI-TCGA novel	p.His205Pro	missense variant	-	NC_000009.12:g.5830753T>G	NCI-TCGA
rs1460755263	p.Phe206Ser	missense variant	-	NC_000009.12:g.5830750A>G	gnomAD
rs1337969653	p.Ser212Ter	stop gained	-	NC_000009.12:g.5830732G>C	gnomAD
rs1003724145	p.Pro213Thr	missense variant	-	NC_000009.12:g.5830730G>T	TOPMed
rs574548226	p.Ser216Ile	missense variant	-	NC_000009.12:g.5825213C>A	1000Genomes,ExAC,gnomAD
rs898857061	p.Val220Gly	missense variant	-	NC_000009.12:g.5825201A>C	TOPMed
rs745999520	p.Cys222Phe	missense variant	-	NC_000009.12:g.5825195C>A	ExAC,gnomAD
rs776985295	p.Ser223Ala	missense variant	-	NC_000009.12:g.5825193A>C	ExAC,gnomAD
rs1440470790	p.Ser223Ter	stop gained	-	NC_000009.12:g.5825192G>C	TOPMed
rs199615496	p.Met225Thr	missense variant	-	NC_000009.12:g.5825186A>G	ExAC,gnomAD
rs1346715604	p.Leu226Val	missense variant	-	NC_000009.12:g.5825184G>C	TOPMed
rs1315893742	p.Val228Leu	missense variant	-	NC_000009.12:g.5825178C>G	gnomAD
rs778526397	p.Arg230His	missense variant	-	NC_000009.12:g.5825171C>T	ExAC,TOPMed,gnomAD
rs747273080	p.Arg230Cys	missense variant	-	NC_000009.12:g.5825172G>A	ExAC,gnomAD
rs1312842998	p.Val231Ile	missense variant	-	NC_000009.12:g.5825169C>T	gnomAD
rs1404508834	p.Thr234Ala	missense variant	-	NC_000009.12:g.5825160T>C	gnomAD
rs1199491121	p.Ala238Pro	missense variant	-	NC_000009.12:g.5825148C>G	TOPMed
rs982284124	p.His240Asp	missense variant	-	NC_000009.12:g.5825142G>C	TOPMed,gnomAD
rs1159605873	p.His240Arg	missense variant	-	NC_000009.12:g.5825141T>C	gnomAD
rs982284124	p.His240Tyr	missense variant	-	NC_000009.12:g.5825142G>A	TOPMed,gnomAD
COSM280857	p.Val243Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5825132A>G	NCI-TCGA Cosmic
rs144810528	p.Ile244Met	missense variant	-	NC_000009.12:g.5825128T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs948164910	p.Ile244Val	missense variant	-	NC_000009.12:g.5825130T>C	TOPMed
rs1426578376	p.Leu246Val	missense variant	-	NC_000009.12:g.5825124G>C	TOPMed
rs750003692	p.Phe247Leu	missense variant	-	NC_000009.12:g.5825121A>G	ExAC,TOPMed,gnomAD
rs989702728	p.Asn248Lys	missense variant	-	NC_000009.12:g.5825116A>T	TOPMed
rs1395361795	p.Gly249Asp	missense variant	-	NC_000009.12:g.5825114C>T	TOPMed
rs767026505	p.Gly249Ser	missense variant	-	NC_000009.12:g.5825115C>T	ExAC,gnomAD
rs1475492990	p.Glu252Gly	missense variant	-	NC_000009.12:g.5825105T>C	gnomAD
rs1257666769	p.Val254Ile	missense variant	-	NC_000009.12:g.5825100C>T	gnomAD
rs751253546	p.Leu255Trp	missense variant	-	NC_000009.12:g.5825096A>C	ExAC,TOPMed,gnomAD
rs1190174091	p.Ser258Gly	missense variant	-	NC_000009.12:g.5823998T>C	gnomAD
rs372144973	p.His259Asp	missense variant	-	NC_000009.12:g.5823995G>C	ESP,ExAC,TOPMed,gnomAD
rs372144973	p.His259Tyr	missense variant	-	NC_000009.12:g.5823995G>A	ESP,ExAC,TOPMed,gnomAD
rs1290062631	p.Ile262Val	missense variant	-	NC_000009.12:g.5823986T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gln264Ter	stop gained	-	NC_000009.12:g.5823980G>A	NCI-TCGA
rs1214655274	p.His265Tyr	missense variant	-	NC_000009.12:g.5823977G>A	gnomAD
rs756799204	p.Pro266Thr	missense variant	-	NC_000009.12:g.5823974G>T	ExAC,TOPMed,gnomAD
rs756799204	p.Pro266Ala	missense variant	-	NC_000009.12:g.5823974G>C	ExAC,TOPMed,gnomAD
rs570813201	p.Trp267Ser	missense variant	-	NC_000009.12:g.5823970C>G	1000Genomes
rs751147418	p.Ser269Ile	missense variant	-	NC_000009.12:g.5823964C>A	ExAC,TOPMed,gnomAD
rs751147418	p.Ser269Asn	missense variant	-	NC_000009.12:g.5823964C>T	ExAC,TOPMed,gnomAD
rs1327165964	p.Ser269Gly	missense variant	-	NC_000009.12:g.5823965T>C	gnomAD
rs141023353	p.Arg272Pro	missense variant	-	NC_000009.12:g.5823955C>G	ESP,ExAC,TOPMed,gnomAD
rs141023353	p.Arg272His	missense variant	-	NC_000009.12:g.5823955C>T	ESP,ExAC,TOPMed,gnomAD
rs199525036	p.Arg272Gly	missense variant	-	NC_000009.12:g.5823956G>C	ESP,ExAC,TOPMed,gnomAD
rs199525036	p.Arg272Cys	missense variant	-	NC_000009.12:g.5823956G>A	ESP,ExAC,TOPMed,gnomAD
rs753035519	p.Ala273Thr	missense variant	-	NC_000009.12:g.5823953C>T	ExAC,gnomAD
rs1166133707	p.Ile275Leu	missense variant	-	NC_000009.12:g.5823947T>G	TOPMed,gnomAD
rs1166133707	p.Ile275Val	missense variant	-	NC_000009.12:g.5823947T>C	TOPMed,gnomAD
rs1390320586	p.Asn276Ile	missense variant	-	NC_000009.12:g.5823943T>A	gnomAD
rs1161297052	p.Leu277Val	missense variant	-	NC_000009.12:g.5823941G>C	TOPMed,gnomAD
rs1193847157	p.Val282Ala	missense variant	-	NC_000009.12:g.5823925A>G	gnomAD
rs1251948382	p.Val282Ile	missense variant	-	NC_000009.12:g.5823926C>T	gnomAD
rs1453737562	p.Gly284Arg	missense variant	-	NC_000009.12:g.5823920C>T	gnomAD
rs760859531	p.Gln290Lys	missense variant	-	NC_000009.12:g.5823902G>T	ExAC,gnomAD
rs956581420	p.Gln290His	missense variant	-	NC_000009.12:g.5823900T>A	TOPMed
rs773294457	p.Thr291Ser	missense variant	-	NC_000009.12:g.5823899T>A	ExAC,gnomAD
rs1276884433	p.Gly292Arg	missense variant	-	NC_000009.12:g.5823896C>G	gnomAD
rs146473341	p.Asn295Ser	missense variant	-	NC_000009.12:g.5813026T>C	ESP,ExAC,TOPMed,gnomAD
rs1480559001	p.Trp297Cys	missense variant	-	NC_000009.12:g.5813019C>G	TOPMed
rs778760469	p.Trp297Leu	missense variant	-	NC_000009.12:g.5813020C>A	ExAC,gnomAD
rs1175342070	p.Leu298Val	missense variant	-	NC_000009.12:g.5813018A>C	TOPMed
rs755382310	p.Val299Phe	missense variant	-	NC_000009.12:g.5813015C>A	ExAC,gnomAD
rs754322557	p.Gln300Pro	missense variant	-	NC_000009.12:g.5813011T>G	ExAC,gnomAD
rs374951871	p.Ala301Val	missense variant	-	NC_000009.12:g.5813008G>A	ESP,ExAC,gnomAD
rs1467549481	p.Val303Leu	missense variant	-	NC_000009.12:g.5813003C>G	TOPMed
rs1292928920	p.Ser304Ter	stop gained	-	NC_000009.12:g.5812999G>C	gnomAD
rs1283877168	p.Ala305Thr	missense variant	-	NC_000009.12:g.5812997C>T	gnomAD
rs756586390	p.Ala306Val	missense variant	-	NC_000009.12:g.5812993G>A	ExAC,gnomAD
rs1289978365	p.Lys307Thr	missense variant	-	NC_000009.12:g.5812990T>G	gnomAD
rs750924259	p.Lys307Glu	missense variant	-	NC_000009.12:g.5812991T>C	ExAC,gnomAD
rs1231388260	p.His308Pro	missense variant	-	NC_000009.12:g.5812987T>G	gnomAD
rs767603607	p.Ala311Ser	missense variant	-	NC_000009.12:g.5812979C>A	ExAC,gnomAD
rs1324139720	p.Ser312Phe	missense variant	-	NC_000009.12:g.5812975G>A	gnomAD
rs764363850	p.Val313Leu	missense variant	-	NC_000009.12:g.5812973C>G	ExAC,gnomAD
rs150323907	p.Val314Met	missense variant	-	NC_000009.12:g.5812970C>T	ESP
rs947998523	p.Gln316Ter	stop gained	-	NC_000009.12:g.5812964G>A	gnomAD
rs1183701730	p.Phe319Val	missense variant	-	NC_000009.12:g.5812955A>C	TOPMed,gnomAD
rs140191022	p.Gln320His	missense variant	-	NC_000009.12:g.5812950C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1346302449	p.Ile324Val	missense variant	-	NC_000009.12:g.5812940T>C	TOPMed
rs151153615	p.Ser326Leu	missense variant	-	NC_000009.12:g.5812933G>A	ESP,TOPMed
rs1321107652	p.Asp327Gly	missense variant	-	NC_000009.12:g.5812930T>C	TOPMed
rs773065056	p.Arg331Gly	missense variant	-	NC_000009.12:g.5812919G>C	ExAC,gnomAD
rs773065056	p.Arg331Cys	missense variant	-	NC_000009.12:g.5812919G>A	ExAC,gnomAD
rs771593182	p.Arg331His	missense variant	-	NC_000009.12:g.5812918C>T	ExAC,TOPMed,gnomAD
rs771593182	p.Arg331Leu	missense variant	-	NC_000009.12:g.5812918C>A	ExAC,TOPMed,gnomAD
rs773065056	p.Arg331Ser	missense variant	-	NC_000009.12:g.5812919G>T	ExAC,gnomAD
rs747721438	p.Tyr333Cys	missense variant	-	NC_000009.12:g.5812912T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp335Asn	missense variant	-	NC_000009.12:g.5812907C>T	NCI-TCGA
rs1290559975	p.Phe336Ser	missense variant	-	NC_000009.12:g.5812903A>G	gnomAD
rs142052069	p.Asn338Ser	missense variant	-	NC_000009.12:g.5812897T>C	ESP,ExAC,TOPMed,gnomAD
rs142052069	p.Asn338Thr	missense variant	-	NC_000009.12:g.5812897T>G	ESP,ExAC,TOPMed,gnomAD
rs748964454	p.Ile339Met	missense variant	-	NC_000009.12:g.5812893A>C	ExAC,TOPMed,gnomAD
rs780418996	p.Pro340Leu	missense variant	-	NC_000009.12:g.5812891G>A	ExAC,TOPMed,gnomAD
rs199952799	p.Ile342Val	missense variant	-	NC_000009.12:g.5812215T>C	TOPMed,gnomAD
rs377105796	p.Ile342Thr	missense variant	-	NC_000009.12:g.5812214A>G	ESP,ExAC,TOPMed,gnomAD
rs747485935	p.Asp343Gly	missense variant	-	NC_000009.12:g.5812211T>C	ExAC,gnomAD
rs1372772801	p.Ile347Thr	missense variant	-	NC_000009.12:g.5812199A>G	TOPMed
COSM1109418	p.Glu348Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5812195C>A	NCI-TCGA Cosmic
rs141049730	p.Asn349Ser	missense variant	-	NC_000009.12:g.5812193T>C	ESP
rs778303333	p.Gly350Ter	stop gained	-	NC_000009.12:g.5812191C>A	ExAC,gnomAD
NCI-TCGA novel	p.Tyr351Cys	missense variant	-	NC_000009.12:g.5812187T>C	NCI-TCGA
rs568490069	p.Ile352Thr	missense variant	-	NC_000009.12:g.5812184A>G	1000Genomes
rs1285472083	p.His354Pro	missense variant	-	NC_000009.12:g.5812178T>G	TOPMed
rs748246627	p.His354Asp	missense variant	-	NC_000009.12:g.5812179G>C	ExAC,gnomAD
rs1230776205	p.Asp358His	missense variant	-	NC_000009.12:g.5812167C>G	gnomAD
rs755097681	p.Ala360Val	missense variant	-	NC_000009.12:g.5812160G>A	ExAC,TOPMed,gnomAD
rs1277668315	p.Ala360Thr	missense variant	-	NC_000009.12:g.5812161C>T	TOPMed
rs758598311	p.Ile363Val	missense variant	-	NC_000009.12:g.5812152T>C	ExAC,gnomAD
rs1159552214	p.Thr365Ala	missense variant	-	NC_000009.12:g.5812146T>C	gnomAD
rs751526437	p.Asp366Gly	missense variant	-	NC_000009.12:g.5812142T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp366Tyr	missense variant	-	NC_000009.12:g.5812143C>A	NCI-TCGA
rs147751201	p.Ser367Cys	missense variant	-	NC_000009.12:g.5812139G>C	ESP,ExAC,gnomAD
rs538690277	p.Ser367Ala	missense variant	-	NC_000009.12:g.5812140A>C	1000Genomes,ExAC,gnomAD
rs935231853	p.Gln369Glu	missense variant	-	NC_000009.12:g.5812134G>C	TOPMed
rs935231853	p.Gln369Lys	missense variant	-	NC_000009.12:g.5812134G>T	TOPMed
NCI-TCGA novel	p.Arg370Ile	missense variant	-	NC_000009.12:g.5812130C>A	NCI-TCGA
rs1392728978	p.Gly372Val	missense variant	-	NC_000009.12:g.5811323C>A	gnomAD
rs1465463336	p.Gly372Arg	missense variant	-	NC_000009.12:g.5812125C>G	gnomAD
rs1436354752	p.Asp373Asn	missense variant	-	NC_000009.12:g.5811321C>T	TOPMed,gnomAD
rs1170155121	p.Val378Phe	missense variant	-	NC_000009.12:g.5811306C>A	gnomAD
rs770083260	p.Leu379Val	missense variant	-	NC_000009.12:g.5811303G>C	ExAC,gnomAD
rs746110746	p.Lys380Glu	missense variant	-	NC_000009.12:g.5811300T>C	ExAC,gnomAD
rs777667883	p.Lys380Thr	missense variant	-	NC_000009.12:g.5811299T>G	ExAC,gnomAD
rs145625113	p.His381Arg	missense variant	-	NC_000009.12:g.5811296T>C	ESP,ExAC,TOPMed,gnomAD
rs1249087343	p.Leu382Val	missense variant	-	NC_000009.12:g.5811294G>C	gnomAD
rs907366984	p.Ala383Gly	missense variant	-	NC_000009.12:g.5811290G>C	TOPMed
rs375663214	p.Ser385Cys	missense variant	-	NC_000009.12:g.5811284G>C	ESP,ExAC,TOPMed,gnomAD
rs1276864317	p.Asp386Gly	missense variant	-	NC_000009.12:g.5811281T>C	gnomAD
rs1350714305	p.Asp386Glu	missense variant	-	NC_000009.12:g.5811280A>C	TOPMed
rs1305226915	p.Asp386Asn	missense variant	-	NC_000009.12:g.5811282C>T	TOPMed
COSM1109417	p.Met387Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5811277C>T	NCI-TCGA Cosmic
rs1209008069	p.Met387Thr	missense variant	-	NC_000009.12:g.5811278A>G	gnomAD
rs1436868542	p.Leu388Pro	missense variant	-	NC_000009.12:g.5811275A>G	TOPMed
rs199811536	p.Ala389Gly	missense variant	-	NC_000009.12:g.5811272G>C	TOPMed,gnomAD
rs866325120	p.Ala389Thr	missense variant	-	NC_000009.12:g.5811273C>T	-
rs765891108	p.Ala390Gly	missense variant	-	NC_000009.12:g.5811269G>C	ExAC
rs753281616	p.Ala390Thr	missense variant	-	NC_000009.12:g.5811270C>T	ExAC,gnomAD
rs755714058	p.Ala391Thr	missense variant	-	NC_000009.12:g.5811267C>T	ExAC,gnomAD
rs750108536	p.Ser392Phe	missense variant	-	NC_000009.12:g.5811263G>A	ExAC,gnomAD
rs1286432829	p.Ser392Ala	missense variant	-	NC_000009.12:g.5811264A>C	gnomAD
NCI-TCGA novel	p.Ser392Cys	missense variant	-	NC_000009.12:g.5811263G>C	NCI-TCGA
rs767743378	p.Lys393Gln	missense variant	-	NC_000009.12:g.5811261T>G	ExAC,TOPMed,gnomAD
rs1309245369	p.Lys393Thr	missense variant	-	NC_000009.12:g.5811260T>G	gnomAD
rs767743378	p.Lys393Glu	missense variant	-	NC_000009.12:g.5811261T>C	ExAC,TOPMed,gnomAD
rs1309245369	p.Lys393Arg	missense variant	-	NC_000009.12:g.5811260T>C	gnomAD
rs140094646	p.Tyr394Cys	missense variant	-	NC_000009.12:g.5811257T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774713963	p.Arg395Gln	missense variant	-	NC_000009.12:g.5811254C>T	ExAC,gnomAD
rs1401003887	p.Arg395Ter	stop gained	-	NC_000009.12:g.5811255G>A	gnomAD
rs1479238729	p.His396Tyr	missense variant	-	NC_000009.12:g.5811252G>A	gnomAD
rs1323645914	p.Gly397Arg	missense variant	-	NC_000009.12:g.5811249C>G	TOPMed,gnomAD
rs201496581	p.Asn398His	missense variant	-	NC_000009.12:g.5811246T>G	1000Genomes,ExAC,gnomAD
rs1182179750	p.Met399Thr	missense variant	-	NC_000009.12:g.5811242A>G	gnomAD
rs1225589487	p.Met399Val	missense variant	-	NC_000009.12:g.5811243T>C	TOPMed
rs763567359	p.Phe401Val	missense variant	-	NC_000009.12:g.5811237A>C	ExAC,TOPMed,gnomAD
rs775659029	p.Phe402Ile	missense variant	-	NC_000009.12:g.5811234A>T	ExAC,gnomAD
rs1346929169	p.Phe408Ser	missense variant	-	NC_000009.12:g.5811215A>G	gnomAD
rs1346929169	p.Phe408Cys	missense variant	-	NC_000009.12:g.5811215A>C	gnomAD
rs776959101	p.Ile410Val	missense variant	-	NC_000009.12:g.5811210T>C	ExAC,TOPMed,gnomAD
rs532414900	p.Tyr412Cys	missense variant	-	NC_000009.12:g.5811203T>C	ExAC
rs1227714279	p.Tyr412His	missense variant	-	NC_000009.12:g.5811204A>G	gnomAD
rs532414900	p.Tyr412Ser	missense variant	-	NC_000009.12:g.5811203T>G	ExAC
rs1395269132	p.Pro413Ala	missense variant	-	NC_000009.12:g.5811201G>C	TOPMed,gnomAD
rs1054701833	p.Pro413Leu	missense variant	-	NC_000009.12:g.5811200G>A	TOPMed
rs1289715055	p.Ser414Thr	missense variant	-	NC_000009.12:g.5811198A>T	gnomAD
rs573494515	p.Ser414Cys	missense variant	-	NC_000009.12:g.5811197G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs200294638	p.Arg415Ser	missense variant	-	NC_000009.12:g.5811195G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200294638	p.Arg415Cys	missense variant	-	NC_000009.12:g.5811195G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749246662	p.Arg415His	missense variant	-	NC_000009.12:g.5811194C>T	ExAC,TOPMed,gnomAD
rs149390224	p.Ile419Phe	missense variant	-	NC_000009.12:g.5811183T>A	ESP,ExAC,TOPMed,gnomAD
rs149390224	p.Ile419Val	missense variant	-	NC_000009.12:g.5811183T>C	ESP,ExAC,TOPMed,gnomAD
rs1158818953	p.Ile420Val	missense variant	-	NC_000009.12:g.5811180T>C	gnomAD
rs1458247075	p.Asn421Asp	missense variant	-	NC_000009.12:g.5811177T>C	gnomAD
rs751893530	p.Tyr422Ser	missense variant	-	NC_000009.12:g.5811173T>G	ExAC,TOPMed,gnomAD
rs751893530	p.Tyr422Cys	missense variant	-	NC_000009.12:g.5811173T>C	ExAC,TOPMed,gnomAD
rs369837590	p.Met423Ile	missense variant	-	NC_000009.12:g.5811169C>G	ESP,ExAC,gnomAD
rs536948751	p.Met423Val	missense variant	-	NC_000009.12:g.5811171T>C	1000Genomes,ExAC,gnomAD
rs765382489	p.Val425Ile	missense variant	-	NC_000009.12:g.5811165C>T	ExAC,TOPMed,gnomAD
rs1285456822	p.Met426Ile	missense variant	-	NC_000009.12:g.5811160C>A	TOPMed
rs776716376	p.Gly427Asp	missense variant	-	NC_000009.12:g.5811158C>T	ExAC,gnomAD
rs192189369	p.Val428Gly	missense variant	-	NC_000009.12:g.5811155A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1286322291	p.Val428Leu	missense variant	-	NC_000009.12:g.5811156C>G	gnomAD
rs754823307	p.Tyr431Asn	missense variant	-	NC_000009.12:g.5811147A>T	ExAC,gnomAD
rs1284211133	p.Tyr431Ser	missense variant	-	NC_000009.12:g.5811146T>G	gnomAD
rs139768756	p.Leu432Val	missense variant	-	NC_000009.12:g.5811144G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1362515104	p.Lys434Arg	missense variant	-	NC_000009.12:g.5811137T>C	TOPMed,gnomAD
COSM1462634	p.Lys435Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5811134T>G	NCI-TCGA Cosmic
rs202014818	p.Lys435Gln	missense variant	-	NC_000009.12:g.5811135T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs371168276	p.Phe436Leu	missense variant	-	NC_000009.12:g.5811132A>G	TOPMed,gnomAD
rs749193439	p.Pro439Leu	missense variant	-	NC_000009.12:g.5811122G>A	ExAC,TOPMed,gnomAD
rs749193439	p.Pro439Arg	missense variant	-	NC_000009.12:g.5811122G>C	ExAC,TOPMed,gnomAD
rs77475899	p.Lys440Asn	missense variant	-	NC_000009.12:g.5811118T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs769282050	p.His441Arg	missense variant	-	NC_000009.12:g.5811116T>C	ExAC,TOPMed,gnomAD
rs745308242	p.Lys442Ter	stop gained	-	NC_000009.12:g.5811114T>A	ExAC,TOPMed,gnomAD
rs745308242	p.Lys442Glu	missense variant	-	NC_000009.12:g.5811114T>C	ExAC,TOPMed,gnomAD
rs1163967080	p.Thr443Ile	missense variant	-	NC_000009.12:g.5810231G>A	TOPMed
rs1205433037	p.Lys448Glu	missense variant	-	NC_000009.12:g.5810217T>C	gnomAD
rs1308835098	p.Lys448Asn	missense variant	-	NC_000009.12:g.5810215C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Lys448Asn	missense variant	-	NC_000009.12:g.5810215C>A	NCI-TCGA
rs150624756	p.Asp449Val	missense variant	-	NC_000009.12:g.5810213T>A	ESP,ExAC,TOPMed,gnomAD
rs376532967	p.Leu451Ser	missense variant	-	NC_000009.12:g.5810207A>G	ESP,ExAC,TOPMed,gnomAD
rs777623107	p.Leu454Pro	missense variant	-	NC_000009.12:g.5810198A>G	ExAC
rs758828525	p.Thr457Ser	missense variant	-	NC_000009.12:g.5810189G>C	ExAC,TOPMed,gnomAD
rs748459724	p.Leu458Ser	missense variant	-	NC_000009.12:g.5810186A>G	ExAC,gnomAD
rs1379458412	p.Leu458Phe	missense variant	-	NC_000009.12:g.5810185C>G	TOPMed
rs768950275	p.Phe462Leu	missense variant	-	NC_000009.12:g.5810173G>T	ExAC,gnomAD
rs1308655957	p.Phe462Cys	missense variant	-	NC_000009.12:g.5810174A>C	TOPMed,gnomAD
rs755468335	p.Thr463Ile	missense variant	-	NC_000009.12:g.5810171G>A	ExAC,TOPMed,gnomAD
rs754338131	p.Leu465Phe	missense variant	-	NC_000009.12:g.5810166G>A	ExAC,gnomAD
rs766451152	p.Thr467Ile	missense variant	-	NC_000009.12:g.5810159G>A	ExAC,gnomAD
rs1182208588	p.Val468Gly	missense variant	-	NC_000009.12:g.5810156A>C	gnomAD
rs750645912	p.Val468Ile	missense variant	-	NC_000009.12:g.5810157C>T	ExAC,TOPMed,gnomAD
rs762033614	p.Ile470Asn	missense variant	-	NC_000009.12:g.5810150A>T	ExAC,TOPMed,gnomAD
rs767796823	p.Ile470Val	missense variant	-	NC_000009.12:g.5810151T>C	ExAC,TOPMed,gnomAD
rs1265316327	p.Phe474Leu	missense variant	-	NC_000009.12:g.5810137G>C	gnomAD
rs1227107615	p.Leu477Pro	missense variant	-	NC_000009.12:g.5810129A>G	gnomAD
rs1289105399	p.Ile478Met	missense variant	-	NC_000009.12:g.5810125A>C	gnomAD
rs765047672	p.Ile478Thr	missense variant	-	NC_000009.12:g.5810126A>G	ExAC,TOPMed,gnomAD
rs1393251268	p.Gly479Glu	missense variant	-	NC_000009.12:g.5810123C>T	gnomAD
rs776477983	p.Gln480Leu	missense variant	-	NC_000009.12:g.5810120T>A	ExAC,gnomAD
rs759485756	p.Gln480Ter	stop gained	-	NC_000009.12:g.5810121G>A	ExAC,TOPMed,gnomAD
rs913395669	p.Ser481Cys	missense variant	-	NC_000009.12:g.5810117G>C	gnomAD
rs1449023291	p.Ser483Leu	missense variant	-	NC_000009.12:g.5810111G>A	gnomAD
NCI-TCGA novel	p.Ser483MetPheSerTerUnk	frameshift	-	NC_000009.12:g.5810111_5810112GA>-	NCI-TCGA
rs770458720	p.Tyr485Cys	missense variant	-	NC_000009.12:g.5810105T>C	ExAC,TOPMed,gnomAD
rs772855387	p.Asn486Lys	missense variant	-	NC_000009.12:g.5810101G>C	ExAC,TOPMed,gnomAD
rs141830507	p.Asn486Asp	missense variant	-	NC_000009.12:g.5810103T>C	ESP,ExAC,TOPMed,gnomAD
rs1411090503	p.Phe488Leu	missense variant	-	NC_000009.12:g.5810097A>G	gnomAD
rs200917902	p.Tyr489Cys	missense variant	-	NC_000009.12:g.5810093T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr489His	missense variant	-	NC_000009.12:g.5810094A>G	NCI-TCGA
rs1253459996	p.Ser491Cys	missense variant	-	NC_000009.12:g.5810087G>C	gnomAD
rs1352762953	p.Val492Ile	missense variant	-	NC_000009.12:g.5810085C>T	TOPMed
rs144889308	p.Cys493Ter	stop gained	-	NC_000009.12:g.5810080A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs559305338	p.Cys493Phe	missense variant	-	NC_000009.12:g.5810081C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs780485865	p.Leu494Val	missense variant	-	NC_000009.12:g.5810079G>C	ExAC,TOPMed,gnomAD
rs935689284	p.Tyr495Cys	missense variant	-	NC_000009.12:g.5810075T>C	TOPMed,gnomAD
COSM1109415	p.Gly496Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5810072C>T	NCI-TCGA Cosmic
rs865803163	p.Thr497Ala	missense variant	-	NC_000009.12:g.5810070T>C	TOPMed,gnomAD
rs1328878845	p.Ala498Pro	missense variant	-	NC_000009.12:g.5810067C>G	gnomAD
rs925608780	p.Thr499Ala	missense variant	-	NC_000009.12:g.5810064T>C	TOPMed,gnomAD
rs528887474	p.Thr499Ile	missense variant	-	NC_000009.12:g.5810063G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs925608780	p.Thr499Pro	missense variant	-	NC_000009.12:g.5810064T>G	TOPMed,gnomAD
COSM1462632	p.Ala501Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5810057G>T	NCI-TCGA Cosmic
rs767603006	p.Ile503Val	missense variant	-	NC_000009.12:g.5810052T>C	ExAC,gnomAD
rs1383776232	p.Ile503Met	missense variant	-	NC_000009.12:g.5810050T>C	gnomAD
rs757428065	p.Ile504Met	missense variant	-	NC_000009.12:g.5810047T>C	ExAC,gnomAD
rs1338492209	p.Ile506Met	missense variant	-	NC_000009.12:g.5810041T>C	gnomAD
rs142615324	p.Ile506Lys	missense variant	-	NC_000009.12:g.5810042A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142615324	p.Ile506Thr	missense variant	-	NC_000009.12:g.5810042A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138074030	p.His507Asn	missense variant	-	NC_000009.12:g.5810040G>T	ESP,ExAC,TOPMed,gnomAD
rs776625042	p.Thr508Ser	missense variant	-	NC_000009.12:g.5810036G>C	ExAC,TOPMed,gnomAD
rs1387620728	p.Thr508Ala	missense variant	-	NC_000009.12:g.5810037T>C	gnomAD
rs745801198	p.Leu509Val	missense variant	-	NC_000009.12:g.5810034G>C	TOPMed
rs543515732	p.Ala510Gly	missense variant	-	NC_000009.12:g.5810030G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs543515732	p.Ala510Val	missense variant	-	NC_000009.12:g.5810030G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1163406845	p.Lys511Glu	missense variant	-	NC_000009.12:g.5810028T>C	TOPMed,gnomAD
rs374389047	p.Arg512Ile	missense variant	-	NC_000009.12:g.5810024C>A	ESP,ExAC,TOPMed,gnomAD
rs771740637	p.Phe513Leu	missense variant	-	NC_000009.12:g.5810022A>G	ExAC,TOPMed,gnomAD
rs761526137	p.Tyr515His	missense variant	-	NC_000009.12:g.5810016A>G	ExAC,gnomAD
rs368185505	p.Met516Leu	missense variant	-	NC_000009.12:g.5810013T>A	ESP,TOPMed,gnomAD
rs368185505	p.Met516Val	missense variant	-	NC_000009.12:g.5810013T>C	ESP,TOPMed,gnomAD
rs1346858505	p.Ala518Val	missense variant	-	NC_000009.12:g.5805781G>A	gnomAD
rs762687385	p.Gln521His	missense variant	-	NC_000009.12:g.5805771C>G	ExAC,gnomAD
rs202074914	p.Gly524Arg	missense variant	-	NC_000009.12:g.5805764C>G	ExAC,TOPMed,gnomAD
COSM3433175	p.Phe527Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5805753A>C	NCI-TCGA Cosmic
COSM4613787	p.Asp529Ter	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.5805749_5805750insA	NCI-TCGA Cosmic
rs781707680	p.Ser531Leu	missense variant	-	NC_000009.12:g.5805742G>A	ExAC,TOPMed,gnomAD
rs1249742161	p.Leu532Val	missense variant	-	NC_000009.12:g.5805740G>C	gnomAD
rs148859023	p.Phe538Leu	missense variant	-	NC_000009.12:g.5805722A>G	ESP,ExAC,TOPMed,gnomAD
rs752996649	p.Phe538Leu	missense variant	-	NC_000009.12:g.5805720A>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu539Ile	missense variant	-	NC_000009.12:g.5805719G>T	NCI-TCGA
COSM1109413	p.Val540Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5805715A>G	NCI-TCGA Cosmic
COSM456010	p.Val540Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5805716C>A	NCI-TCGA Cosmic
rs756022504	p.Thr541Ile	missense variant	-	NC_000009.12:g.5805712G>A	ExAC,gnomAD
rs767633711	p.Leu542Val	missense variant	-	NC_000009.12:g.5805710G>C	ExAC,gnomAD
rs1262822160	p.Thr543Pro	missense variant	-	NC_000009.12:g.5805707T>G	TOPMed
NCI-TCGA novel	p.Tyr544Ter	stop gained	-	NC_000009.12:g.5805702G>T	NCI-TCGA
rs761849108	p.Gln545Glu	missense variant	-	NC_000009.12:g.5805701G>C	ExAC,gnomAD
rs1482804626	p.Gln545His	missense variant	-	NC_000009.12:g.5805699T>G	TOPMed
NCI-TCGA novel	p.Gly546Val	missense variant	-	NC_000009.12:g.5805697C>A	NCI-TCGA
rs150106740	p.Ser549Leu	missense variant	-	NC_000009.12:g.5805688G>A	NCI-TCGA
rs763688629	p.Ser549Pro	missense variant	-	NC_000009.12:g.5805689A>G	ExAC,gnomAD
rs150106740	p.Ser549Leu	missense variant	-	NC_000009.12:g.5805688G>A	ESP,ExAC,TOPMed,gnomAD
rs763688629	p.Ser549Ala	missense variant	-	NC_000009.12:g.5805689A>C	ExAC,gnomAD
rs1252549250	p.Ala550Val	missense variant	-	NC_000009.12:g.5805685G>A	TOPMed
rs141976024	p.Phe551Ser	missense variant	-	NC_000009.12:g.5805682A>G	ESP,ExAC,TOPMed,gnomAD
rs1016741932	p.Phe551Leu	missense variant	-	NC_000009.12:g.5805681A>T	TOPMed,gnomAD
rs776984067	p.Ser553Ile	missense variant	-	NC_000009.12:g.5805676C>A	ExAC,gnomAD
rs1159042793	p.Ala554Thr	missense variant	-	NC_000009.12:g.5805674C>T	gnomAD
rs1470584641	p.Val555Phe	missense variant	-	NC_000009.12:g.5805671C>A	gnomAD
rs374260134	p.Ala558Val	missense variant	-	NC_000009.12:g.5805661G>A	ESP,ExAC,TOPMed,gnomAD
rs773126391	p.Phe559Tyr	missense variant	-	NC_000009.12:g.5805658A>T	ExAC,gnomAD
rs772234943	p.Leu561Trp	missense variant	-	NC_000009.12:g.5805652A>C	ExAC,gnomAD
rs1227696868	p.Thr563Ala	missense variant	-	NC_000009.12:g.5805647T>C	TOPMed,gnomAD
COSM1109412	p.Lys564Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5805644T>G	NCI-TCGA Cosmic
rs748295882	p.Leu565Phe	missense variant	-	NC_000009.12:g.5805641G>A	ExAC,gnomAD
rs745594980	p.Cys566Phe	missense variant	-	NC_000009.12:g.5805637C>A	ExAC,gnomAD
rs1397698309	p.Cys566Ter	stop gained	-	NC_000009.12:g.5805636A>T	TOPMed
rs1339468650	p.His568Pro	missense variant	-	NC_000009.12:g.5805631T>G	gnomAD
rs1339468650	p.His568Arg	missense variant	-	NC_000009.12:g.5805631T>C	gnomAD
rs971098304	p.Asp570Tyr	missense variant	-	NC_000009.12:g.5805626C>A	TOPMed,gnomAD
rs1306733781	p.Phe571Leu	missense variant	-	NC_000009.12:g.5805623A>G	TOPMed
rs781150056	p.Lys572Arg	missense variant	-	NC_000009.12:g.5805619T>C	ExAC,gnomAD
rs1243821528	p.Gly575Asp	missense variant	-	NC_000009.12:g.5805217C>T	gnomAD
rs777829058	p.Gln577Arg	missense variant	-	NC_000009.12:g.5805211T>C	ExAC,gnomAD
rs777829058	p.Gln577Pro	missense variant	-	NC_000009.12:g.5805211T>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly578Glu	missense variant	-	NC_000009.12:g.5805208C>T	NCI-TCGA
NCI-TCGA novel	p.Lys579Glu	missense variant	-	NC_000009.12:g.5805206T>C	NCI-TCGA
rs1036487068	p.Phe580Cys	missense variant	-	NC_000009.12:g.5805202A>C	TOPMed,gnomAD
rs752193550	p.Phe580Leu	missense variant	-	NC_000009.12:g.5805201A>C	ExAC,gnomAD
rs758273759	p.Phe580Ile	missense variant	-	NC_000009.12:g.5805203A>T	ExAC,TOPMed,gnomAD
rs1036487068	p.Phe580Tyr	missense variant	-	NC_000009.12:g.5805202A>T	TOPMed,gnomAD
rs1272783946	p.Ile581Phe	missense variant	-	NC_000009.12:g.5805200T>A	gnomAD
rs1215567183	p.Ala582Gly	missense variant	-	NC_000009.12:g.5805196G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Tyr584ThrPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.5805191A>-	NCI-TCGA
rs754583115	p.Leu585Phe	missense variant	-	NC_000009.12:g.5805188G>A	ExAC,TOPMed,gnomAD
rs1436384349	p.Gly587Glu	missense variant	-	NC_000009.12:g.5805181C>T	gnomAD
rs761159172	p.Met588Ile	missense variant	-	NC_000009.12:g.5805177C>T	ExAC
rs1304980285	p.Phe589Cys	missense variant	-	NC_000009.12:g.5805175A>C	gnomAD
rs750893707	p.Ile590Ser	missense variant	-	NC_000009.12:g.5805172A>C	ExAC,gnomAD
rs768004905	p.Pro591Ser	missense variant	-	NC_000009.12:g.5805170G>A	ExAC
rs769612809	p.Leu593Arg	missense variant	-	NC_000009.12:g.5805163A>C	ExAC,gnomAD
rs1410378053	p.Ala595Val	missense variant	-	NC_000009.12:g.5805157G>A	gnomAD
rs763243350	p.Leu596Ter	stop gained	-	NC_000009.12:g.5805154A>T	ExAC,gnomAD
rs763243350	p.Leu596Ser	missense variant	-	NC_000009.12:g.5805154A>G	ExAC,gnomAD
rs1269008326	p.Leu596Phe	missense variant	-	NC_000009.12:g.5805153C>G	gnomAD
rs1200916544	p.Ile599Met	missense variant	-	NC_000009.12:g.5805144G>C	gnomAD
rs746751350	p.Phe603Leu	missense variant	-	NC_000009.12:g.5805132A>C	ExAC,gnomAD
rs376656998	p.Phe603Leu	missense variant	-	NC_000009.12:g.5805134A>G	ESP,ExAC,TOPMed,gnomAD
rs746751350	p.Phe603Leu	missense variant	-	NC_000009.12:g.5805132A>T	ExAC,gnomAD
rs973454895	p.Met605Leu	missense variant	-	NC_000009.12:g.5805128T>A	TOPMed,gnomAD
rs1345337837	p.Phe606Val	missense variant	-	NC_000009.12:g.5805125A>C	TOPMed
rs145665493	p.Thr607Pro	missense variant	-	NC_000009.12:g.5805122T>G	ESP,ExAC,gnomAD
rs748066560	p.Thr607Ile	missense variant	-	NC_000009.12:g.5805121G>A	ExAC,TOPMed,gnomAD
rs868059008	p.Pro608Leu	missense variant	-	NC_000009.12:g.5805118G>A	gnomAD
rs1285711163	p.Pro608Ala	missense variant	-	NC_000009.12:g.5805119G>C	gnomAD
rs778364562	p.Leu610Phe	missense variant	-	NC_000009.12:g.5805113G>A	ExAC,TOPMed,gnomAD
rs778364562	p.Leu610Val	missense variant	-	NC_000009.12:g.5805113G>C	ExAC,TOPMed,gnomAD
rs1444544681	p.Gly611Arg	missense variant	-	NC_000009.12:g.5805110C>G	TOPMed,gnomAD
rs1444544681	p.Gly611Arg	missense variant	-	NC_000009.12:g.5805110C>T	TOPMed,gnomAD
COSM5467719	p.Arg612Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5805106C>A	NCI-TCGA Cosmic
rs140187945	p.Glu616Ala	missense variant	-	NC_000009.12:g.5805094T>G	ESP,ExAC,TOPMed
rs937598519	p.Pro618Ala	missense variant	-	NC_000009.12:g.5805089G>C	TOPMed,gnomAD
rs1247390562	p.Val621Asp	missense variant	-	NC_000009.12:g.5805079A>T	TOPMed
rs755729354	p.Ala624Thr	missense variant	-	NC_000009.12:g.5805071C>T	ExAC,gnomAD
rs750745938	p.Ser625Tyr	missense variant	-	NC_000009.12:g.5805067G>T	ExAC,gnomAD
COSM1462631	p.Leu627TrpPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.5805061A>-	NCI-TCGA Cosmic
rs1177429137	p.Leu627Met	missense variant	-	NC_000009.12:g.5805062A>T	gnomAD
rs1431456504	p.Ala628Thr	missense variant	-	NC_000009.12:g.5805059C>T	TOPMed
COSM1490050	p.Gly629Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5805055C>A	NCI-TCGA Cosmic
rs752157842	p.Met632Val	missense variant	-	NC_000009.12:g.5805047T>C	ExAC,TOPMed,gnomAD
rs1369915258	p.Leu634Ile	missense variant	-	NC_000009.12:g.5805041G>T	TOPMed
NCI-TCGA novel	p.Leu634Phe	missense variant	-	NC_000009.12:g.5805041G>A	NCI-TCGA
rs763187395	p.Ser635Ter	stop gained	-	NC_000009.12:g.5805037G>T	ExAC,gnomAD
rs1427234531	p.Ser635Thr	missense variant	-	NC_000009.12:g.5805038A>T	TOPMed
rs763187395	p.Ser635Leu	missense variant	-	NC_000009.12:g.5805037G>A	ExAC,gnomAD
rs769999046	p.Tyr637Cys	missense variant	-	NC_000009.12:g.5805031T>C	ExAC,TOPMed,gnomAD
rs1227085129	p.Tyr637Ter	stop gained	-	NC_000009.12:g.5805030A>C	gnomAD
rs1378609052	p.Ile642Val	missense variant	-	NC_000009.12:g.5801319T>C	TOPMed
rs1314702950	p.Tyr643Cys	missense variant	-	NC_000009.12:g.5801315T>C	gnomAD
rs375166716	p.Lys646Met	missense variant	-	NC_000009.12:g.5801306T>A	ESP,TOPMed,gnomAD
COSM3367732	p.Ser647Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5801303C>T	NCI-TCGA Cosmic
rs371939957	p.Ser647Arg	missense variant	-	NC_000009.12:g.5801302G>C	ESP,ExAC,TOPMed,gnomAD
rs1289353824	p.Thr648Arg	missense variant	-	NC_000009.12:g.5801300G>C	TOPMed,gnomAD
rs745518655	p.Lys649Arg	missense variant	-	NC_000009.12:g.5801297T>C	ExAC,gnomAD
rs769231638	p.Lys649Gln	missense variant	-	NC_000009.12:g.5801298T>G	ExAC,gnomAD
rs769231638	p.Lys649Glu	missense variant	-	NC_000009.12:g.5801298T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys650AsnPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.5801292_5801293TT>-	NCI-TCGA
rs766083890	p.Thr651ProPheSerTerUnk	frameshift	-	NC_000009.12:g.5801292T>-	NCI-TCGA,NCI-TCGA Cosmic
rs550177754	p.Thr651Asn	missense variant	-	NC_000009.12:g.5801291G>T	1000Genomes,ExAC
rs753821453	p.Thr651AsnPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.5801291_5801292insT	NCI-TCGA
rs756970090	p.Met652Thr	missense variant	-	NC_000009.12:g.5801288A>G	ExAC,gnomAD
rs1447444865	p.Met652Leu	missense variant	-	NC_000009.12:g.5801289T>A	TOPMed
rs147318623	p.Thr654Ser	missense variant	-	NC_000009.12:g.5801283T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs367901085	p.Thr656Ile	missense variant	-	NC_000009.12:g.5801276G>A	ESP,ExAC,TOPMed,gnomAD
rs1428262071	p.Leu657Ser	missense variant	-	NC_000009.12:g.5801273A>G	TOPMed,gnomAD
rs1263114144	p.Cys659Tyr	missense variant	-	NC_000009.12:g.5801267C>T	TOPMed,gnomAD
rs753294459	p.Ile661Val	missense variant	-	NC_000009.12:g.5801262T>C	ExAC,TOPMed,gnomAD
rs753294459	p.Ile661Leu	missense variant	-	NC_000009.12:g.5801262T>G	ExAC,TOPMed,gnomAD
COSM1109411	p.Leu664Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5801252A>C	NCI-TCGA Cosmic
rs961536341	p.Ser668Ile	missense variant	-	NC_000009.12:g.5801240C>A	TOPMed
rs370310060	p.Thr670Ile	missense variant	-	NC_000009.12:g.5801234G>A	ESP,ExAC,TOPMed,gnomAD
COSM3996573	p.Phe671Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5801231A>T	NCI-TCGA Cosmic
rs766445800	p.Phe671Val	missense variant	-	NC_000009.12:g.5801232A>C	ExAC,gnomAD
rs1477166550	p.Phe672Leu	missense variant	-	NC_000009.12:g.5801229A>G	TOPMed
NCI-TCGA novel	p.Pro673HisPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.5801227A>-	NCI-TCGA
rs774087864	p.Ser675Gly	missense variant	-	NC_000009.12:g.5801220T>C	ExAC,gnomAD
rs763909889	p.Ser675Arg	missense variant	-	NC_000009.12:g.5801218G>C	ExAC,gnomAD
rs199887119	p.Asn677Thr	missense variant	-	NC_000009.12:g.5801213T>G	1000Genomes
rs199887119	p.Asn677Ser	missense variant	-	NC_000009.12:g.5801213T>C	1000Genomes
rs1343107211	p.Asn677Asp	missense variant	-	NC_000009.12:g.5801214T>C	gnomAD
rs1051566149	p.Pro678Thr	missense variant	-	NC_000009.12:g.5801211G>T	TOPMed
rs148751977	p.Pro678Leu	missense variant	-	NC_000009.12:g.5801210G>A	ESP,ExAC,TOPMed,gnomAD
rs769339810	p.Pro683Arg	missense variant	-	NC_000009.12:g.5801195G>C	ExAC,gnomAD
rs776214299	p.Val686Ala	missense variant	-	NC_000009.12:g.5801186A>G	ExAC,TOPMed,gnomAD
rs770657550	p.Phe687Leu	missense variant	-	NC_000009.12:g.5801184A>G	ExAC,gnomAD
rs367642040	p.Leu688Ile	missense variant	-	NC_000009.12:g.5801181G>T	ESP,TOPMed
rs746689747	p.Gln689Ter	stop gained	-	NC_000009.12:g.5801178G>A	ExAC,gnomAD
rs1224048750	p.Met691Leu	missense variant	-	NC_000009.12:g.5799005T>G	gnomAD
rs772562879	p.Met691Thr	missense variant	-	NC_000009.12:g.5799004A>G	ExAC,gnomAD
rs1050124214	p.Thr694Ile	missense variant	-	NC_000009.12:g.5798995G>A	gnomAD
rs1237906448	p.Phe695Leu	missense variant	-	NC_000009.12:g.5798991G>T	gnomAD
rs748397632	p.His696Arg	missense variant	-	NC_000009.12:g.5798989T>C	ExAC,gnomAD
rs768998842	p.Asp697Glu	missense variant	-	NC_000009.12:g.5798985G>C	ExAC,gnomAD
rs1450989019	p.Asp697Val	missense variant	-	NC_000009.12:g.5798986T>A	gnomAD
rs779349636	p.Asp697His	missense variant	-	NC_000009.12:g.5798987C>G	ExAC,gnomAD
rs530504237	p.Leu698Met	missense variant	-	NC_000009.12:g.5798984A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1471209144	p.Leu698Trp	missense variant	-	NC_000009.12:g.5798983A>C	gnomAD
rs370992190	p.Glu699Lys	missense variant	-	NC_000009.12:g.5798981C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu699Ter	stop gained	-	NC_000009.12:g.5798981C>A	NCI-TCGA
NCI-TCGA novel	p.Asn701ThrAsnThrThrGluLeuValTyrTerArgMet	stop gained	-	NC_000009.12:g.5798972_5798973insCATCCTTTAATATACAAGTTCAGTGGTGTTTGT	NCI-TCGA
NCI-TCGA novel	p.Ala702LysPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.5798972_5798973insCATCCTTT	NCI-TCGA
rs1365811625	p.Val703Leu	missense variant	-	NC_000009.12:g.5798969C>G	gnomAD
NCI-TCGA novel	p.Lys704IlePheSerTerUnk	frameshift	-	NC_000009.12:g.5798929_5798965TAATCAAACCCATTGATCCATATTCCAGAGTCCCGTT>-	NCI-TCGA
rs746484200	p.Arg705Trp	missense variant	-	NC_000009.12:g.5798963G>A	ExAC,TOPMed,gnomAD
rs746484200	p.Arg705Gly	missense variant	-	NC_000009.12:g.5798963G>C	ExAC,TOPMed,gnomAD
rs757511772	p.Arg705Gln	missense variant	-	NC_000009.12:g.5798962C>T	ExAC,TOPMed,gnomAD
rs765110202	p.Asp706Ala	missense variant	-	NC_000009.12:g.5798959T>G	ExAC,TOPMed,gnomAD
rs752383043	p.Asp706His	missense variant	-	NC_000009.12:g.5798960C>G	ExAC,gnomAD
rs759359238	p.Asn712Ser	missense variant	-	NC_000009.12:g.5798941T>C	ExAC,TOPMed,gnomAD
rs753862590	p.Gly713Glu	missense variant	-	NC_000009.12:g.5798938C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly713Arg	missense variant	-	NC_000009.12:g.5798939C>T	NCI-TCGA
rs144298724	p.Thr717Ser	missense variant	-	NC_000009.12:g.5798926G>C	ESP,ExAC,TOPMed,gnomAD
rs144298724	p.Thr717Ile	missense variant	-	NC_000009.12:g.5798926G>A	ESP,ExAC,TOPMed,gnomAD
rs1280994200	p.Ile719Met	missense variant	-	NC_000009.12:g.5798919A>C	gnomAD
NCI-TCGA novel	p.Ile719Phe	missense variant	-	NC_000009.12:g.5798921T>A	NCI-TCGA
rs772853391	p.Ser720Phe	missense variant	-	NC_000009.12:g.5798917G>A	ExAC
rs1378096672	p.Thr723Ser	missense variant	-	NC_000009.12:g.5798908G>C	TOPMed,gnomAD
rs1378096672	p.Thr723Ile	missense variant	-	NC_000009.12:g.5798908G>A	TOPMed,gnomAD
rs908005606	p.Pro724Leu	missense variant	-	NC_000009.12:g.5798905G>A	TOPMed
rs774542275	p.Pro724Ser	missense variant	-	NC_000009.12:g.5798906G>A	ExAC,TOPMed,gnomAD
rs774542275	p.Pro724Ala	missense variant	-	NC_000009.12:g.5798906G>C	ExAC,TOPMed,gnomAD
rs1455080367	p.His725Tyr	missense variant	-	NC_000009.12:g.5798903G>A	TOPMed,gnomAD
rs749739959	p.Ile726Thr	missense variant	-	NC_000009.12:g.5798899A>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro727Thr	missense variant	-	NC_000009.12:g.5798897G>T	NCI-TCGA
rs1432271087	p.Glu728Val	missense variant	-	NC_000009.12:g.5798893T>A	TOPMed
rs745885889	p.Asn730Lys	missense variant	-	NC_000009.12:g.5798886A>C	ExAC,TOPMed,gnomAD
rs138024406	p.Asn730Ser	missense variant	-	NC_000009.12:g.5798887T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs952225751	p.Ser732Gly	missense variant	-	NC_000009.12:g.5798882T>C	gnomAD
rs952225751	p.Ser732Arg	missense variant	-	NC_000009.12:g.5798882T>G	gnomAD
rs1183928912	p.Ile733Asn	missense variant	-	NC_000009.12:g.5798878A>T	gnomAD
rs777428417	p.Arg734Pro	missense variant	-	NC_000009.12:g.5798875C>G	ExAC,TOPMed,gnomAD
rs777428417	p.Arg734Gln	missense variant	-	NC_000009.12:g.5798875C>T	ExAC,TOPMed,gnomAD
rs1473639594	p.Arg734Ter	stop gained	-	NC_000009.12:g.5798876G>A	TOPMed,gnomAD
rs1247960695	p.Glu738Gln	missense variant	-	NC_000009.12:g.5798864C>G	TOPMed
rs1447082030	p.Glu738Asp	missense variant	-	NC_000009.12:g.5798862C>A	gnomAD
rs1185532626	p.Glu739Asp	missense variant	-	NC_000009.12:g.5798859C>G	TOPMed
rs1463543992	p.Glu739Lys	missense variant	-	NC_000009.12:g.5798861C>T	TOPMed
rs1287467347	p.Ala741Val	missense variant	-	NC_000009.12:g.5798854G>A	gnomAD
COSM1132473	p.Leu743Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5798848A>C	NCI-TCGA Cosmic
rs747293708	p.Leu743Val	missense variant	-	NC_000009.12:g.5798849G>C	ExAC,TOPMed,gnomAD
rs1248686010	p.Gly745Ala	missense variant	-	NC_000009.12:g.5798842C>G	TOPMed,gnomAD
rs1292008210	p.Gly745Cys	missense variant	-	NC_000009.12:g.5798843C>A	gnomAD
rs1337837253	p.Phe746Leu	missense variant	-	NC_000009.12:g.5798840A>G	gnomAD
rs1270199810	p.Trp748Ser	missense variant	-	NC_000009.12:g.5798833C>G	gnomAD
rs778548813	p.His753Tyr	missense variant	-	NC_000009.12:g.5798819G>A	ExAC,gnomAD
rs753822433	p.Phe754Leu	missense variant	-	NC_000009.12:g.5798814A>C	ExAC,gnomAD
rs749034080	p.Lys758Arg	missense variant	-	NC_000009.12:g.5797930T>C	ExAC,gnomAD
rs1232699698	p.Asn759Lys	missense variant	-	NC_000009.12:g.5797926G>C	gnomAD
rs146300402	p.Trp760Cys	missense variant	-	NC_000009.12:g.5797923C>G	ESP
rs1255212645	p.Tyr761Ser	missense variant	-	NC_000009.12:g.5797921T>G	TOPMed
rs780019177	p.Leu762Ile	missense variant	-	NC_000009.12:g.5797919G>T	ExAC,gnomAD
rs756080682	p.Pro763Ser	missense variant	-	NC_000009.12:g.5797916G>A	ExAC,TOPMed,gnomAD
rs750429948	p.Ala764Val	missense variant	-	NC_000009.12:g.5797912G>A	ExAC,TOPMed,gnomAD
rs374916253	p.Pro765Leu	missense variant	-	NC_000009.12:g.5797909G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu766Ter	stop gained	-	NC_000009.12:g.5797907C>A	NCI-TCGA
COSM3657683	p.Ser768Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5797900G>A	NCI-TCGA Cosmic
rs145639054	p.Arg770Lys	missense variant	-	NC_000009.12:g.5797894C>T	1000Genomes,TOPMed,gnomAD
rs201555586	p.Asn771Ser	missense variant	-	NC_000009.12:g.5797891T>C	1000Genomes,ExAC,gnomAD
rs775790386	p.Pro772Leu	missense variant	-	NC_000009.12:g.5797888G>A	ExAC,gnomAD
rs1173873666	p.Pro773Arg	missense variant	-	NC_000009.12:g.5797885G>C	TOPMed
rs1334617928	p.His774Arg	missense variant	-	NC_000009.12:g.5797882T>C	gnomAD
NCI-TCGA novel	p.His774Tyr	missense variant	-	NC_000009.12:g.5797883G>A	NCI-TCGA
rs1469179934	p.Phe775Cys	missense variant	-	NC_000009.12:g.5797879A>C	gnomAD
rs1413618366	p.Phe775Leu	missense variant	-	NC_000009.12:g.5797878G>C	TOPMed
rs777251448	p.Arg776Gln	missense variant	-	NC_000009.12:g.5797876C>T	ExAC,gnomAD
rs777251448	p.Arg776Leu	missense variant	-	NC_000009.12:g.5797876C>A	ExAC,gnomAD
rs765626934	p.Arg776Ter	stop gained	-	NC_000009.12:g.5797877G>A	ExAC,TOPMed,gnomAD
rs760741004	p.Ile778Lys	missense variant	-	NC_000009.12:g.5797870A>T	ExAC,gnomAD
rs760741004	p.Ile778Thr	missense variant	-	NC_000009.12:g.5797870A>G	ExAC,gnomAD
rs1416759628	p.Ile778Val	missense variant	-	NC_000009.12:g.5797871T>C	gnomAD
rs772288398	p.Ser779Cys	missense variant	-	NC_000009.12:g.5797867G>C	ExAC,gnomAD
rs547444284	p.Ser779Ala	missense variant	-	NC_000009.12:g.5797868A>C	1000Genomes,ExAC,gnomAD
rs748414672	p.Gln782His	missense variant	-	NC_000009.12:g.5797857C>G	ExAC,TOPMed,gnomAD
rs1258252882	p.Pro784Leu	missense variant	-	NC_000009.12:g.5797852G>A	gnomAD
rs779965849	p.Pro784Thr	missense variant	-	NC_000009.12:g.5797853G>T	ExAC,gnomAD
COSM3907564	p.Ser787Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5797844A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser787Tyr	missense variant	-	NC_000009.12:g.5797843G>T	NCI-TCGA
rs142701582	p.Ile788Leu	missense variant	-	NC_000009.12:g.5797841T>G	ESP,ExAC,gnomAD
rs745791309	p.Ile788Met	missense variant	-	NC_000009.12:g.5797839T>C	ExAC,gnomAD
COSM288484	p.Lys789Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5797837T>G	NCI-TCGA Cosmic
rs757152177	p.Thr791Ile	missense variant	-	NC_000009.12:g.5797831G>A	ExAC,gnomAD
rs751027218	p.Thr795Ile	missense variant	-	NC_000009.12:g.5797819G>A	ExAC,TOPMed,gnomAD
rs140132784	p.Thr795Ser	missense variant	-	NC_000009.12:g.5797820T>A	1000Genomes
COSM1462625	p.Gly796Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5787593C>T	NCI-TCGA Cosmic
rs1320816861	p.His799Arg	missense variant	-	NC_000009.12:g.5787584T>C	gnomAD
rs762053505	p.Phe802Leu	missense variant	-	NC_000009.12:g.5787574G>C	ExAC,gnomAD
rs138113241	p.Tyr803Cys	missense variant	-	NC_000009.12:g.5787572T>C	ESP,TOPMed,gnomAD
rs774581636	p.Arg805Ter	stop gained	-	NC_000009.12:g.5787567G>A	ExAC,TOPMed,gnomAD
rs185549934	p.Arg805Gln	missense variant	-	NC_000009.12:g.5787566C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs185549934	p.Arg805Pro	missense variant	-	NC_000009.12:g.5787566C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1333960756	p.His807Tyr	missense variant	-	NC_000009.12:g.5787561G>A	gnomAD
rs982099327	p.His807Pro	missense variant	-	NC_000009.12:g.5787560T>G	TOPMed
rs763112098	p.Lys808Arg	missense variant	-	NC_000009.12:g.5787557T>C	ExAC,gnomAD
rs776452424	p.Gly809Arg	missense variant	-	NC_000009.12:g.5787555C>G	ExAC,gnomAD
rs770678871	p.Gly809Glu	missense variant	-	NC_000009.12:g.5787554C>T	ExAC,gnomAD
rs1238500768	p.Ser813Pro	missense variant	-	NC_000009.12:g.5787543A>G	gnomAD
rs1262456619	p.Ser813Cys	missense variant	-	NC_000009.12:g.5787542G>C	TOPMed
rs1010970108	p.Gln814Arg	missense variant	-	NC_000009.12:g.5787539T>C	TOPMed
rs747599955	p.Trp815Ter	stop gained	-	NC_000009.12:g.5787536C>T	ExAC,gnomAD
NCI-TCGA novel	p.Trp815Ter	missense variant	-	NC_000009.12:g.5787535C>T	NCI-TCGA
rs778417508	p.Asn819Ser	missense variant	-	NC_000009.12:g.5787524T>C	ExAC,TOPMed,gnomAD
COSM1109408	p.Gly820Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5787521C>T	NCI-TCGA Cosmic
rs963841784	p.Thr821Ser	missense variant	-	NC_000009.12:g.5787518G>C	TOPMed
rs754585284	p.Pro822Ser	missense variant	-	NC_000009.12:g.5787516G>A	ExAC,gnomAD
rs1032813687	p.Val823Leu	missense variant	-	NC_000009.12:g.5787513C>G	TOPMed,gnomAD
rs1237802408	p.Thr824Ile	missense variant	-	NC_000009.12:g.5787509G>A	gnomAD
rs748935287	p.Thr824Ser	missense variant	-	NC_000009.12:g.5787510T>A	ExAC,gnomAD
rs1311856770	p.Lys826Asn	missense variant	-	NC_000009.12:g.5787502T>G	TOPMed,gnomAD
rs780445945	p.Lys826Arg	missense variant	-	NC_000009.12:g.5787503T>C	ExAC,gnomAD
rs1450869512	p.Gly828Arg	missense variant	-	NC_000009.12:g.5787498C>G	gnomAD
rs1382759171	p.Gly828Val	missense variant	-	NC_000009.12:g.5787497C>A	gnomAD
rs750938774	p.Asp829Glu	missense variant	-	NC_000009.12:g.5787493G>C	ExAC,TOPMed,gnomAD
rs756496609	p.Asp829His	missense variant	-	NC_000009.12:g.5787495C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp829Asn	missense variant	-	NC_000009.12:g.5787495C>T	NCI-TCGA
rs768074009	p.Ser835Pro	missense variant	-	NC_000009.12:g.5787477A>G	ExAC,gnomAD
rs757856558	p.Ser835Cys	missense variant	-	NC_000009.12:g.5787476G>C	ExAC,TOPMed,gnomAD
rs757856558	p.Ser835Phe	missense variant	-	NC_000009.12:g.5787476G>A	ExAC,TOPMed,gnomAD
rs1297435649	p.Leu838Arg	missense variant	-	NC_000009.12:g.5787467A>C	gnomAD
rs1442524051	p.Gln839Leu	missense variant	-	NC_000009.12:g.5787464T>A	gnomAD
rs1470334978	p.Ala840Val	missense variant	-	NC_000009.12:g.5787461G>A	TOPMed
NCI-TCGA novel	p.Ala840Pro	missense variant	-	NC_000009.12:g.5787462C>G	NCI-TCGA
COSM4852419	p.Ser841Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5787458G>C	NCI-TCGA Cosmic
rs763208849	p.Ala842Val	missense variant	-	NC_000009.12:g.5787455G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala842Thr	missense variant	-	NC_000009.12:g.5787456C>T	NCI-TCGA
rs944363084	p.Trp846Cys	missense variant	-	NC_000009.12:g.5787442C>A	TOPMed
rs202211189	p.Trp846Ter	stop gained	-	NC_000009.12:g.5787443C>T	gnomAD
rs780092149	p.TrpIleGlu846TrpIleGlyTerUnk	stop gained	-	NC_000009.12:g.5787443_5787444insTATCC	ExAC
rs148237651	p.Ile847Met	missense variant	-	NC_000009.12:g.5787439T>C	ESP,ExAC,TOPMed,gnomAD
rs775630065	p.Ile847Leu	missense variant	-	NC_000009.12:g.5787441T>A	ExAC,gnomAD
rs781367038	p.Ile847Thr	missense variant	-	NC_000009.12:g.5787440A>G	TOPMed
NCI-TCGA novel	p.Glu848Gln	missense variant	-	NC_000009.12:g.5787438C>G	NCI-TCGA
rs1169863450	p.Val851Ala	missense variant	-	NC_000009.12:g.5787307A>G	gnomAD
rs768209570	p.Ser852Ala	missense variant	-	NC_000009.12:g.5787305A>C	ExAC,gnomAD
rs762306191	p.Glu853Asp	missense variant	-	NC_000009.12:g.5787300T>G	ExAC,TOPMed,gnomAD
rs143084337	p.His855Tyr	missense variant	-	NC_000009.12:g.5787296G>A	ESP,ExAC
rs769285252	p.Gly858Arg	missense variant	-	NC_000009.12:g.5787287C>T	ExAC,gnomAD
rs1246894788	p.Thr861Asn	missense variant	-	NC_000009.12:g.5787277G>T	gnomAD
rs551188786	p.Val862Leu	missense variant	-	NC_000009.12:g.5787275C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs551188786	p.Val862Met	missense variant	-	NC_000009.12:g.5787275C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs778072786	p.Ala863Gly	missense variant	-	NC_000009.12:g.5787271G>C	ExAC,gnomAD
rs1258054624	p.Ala863Thr	missense variant	-	NC_000009.12:g.5787272C>T	gnomAD
rs758955887	p.Ile864Thr	missense variant	-	NC_000009.12:g.5787268A>G	ExAC,TOPMed,gnomAD
rs919353141	p.Ala866Val	missense variant	-	NC_000009.12:g.5787262G>A	TOPMed,gnomAD
rs371806673	p.Tyr868Cys	missense variant	-	NC_000009.12:g.5787256T>C	ESP,ExAC,TOPMed,gnomAD
rs371806673	p.Tyr868Phe	missense variant	-	NC_000009.12:g.5787256T>A	ESP,ExAC,TOPMed,gnomAD
rs371806673	p.Tyr868Ser	missense variant	-	NC_000009.12:g.5787256T>G	ESP,ExAC,TOPMed,gnomAD
rs1438424023	p.Ser870Pro	missense variant	-	NC_000009.12:g.5787251A>G	gnomAD
rs369191414	p.Ser870Cys	missense variant	-	NC_000009.12:g.5787250G>C	ExAC,TOPMed,gnomAD
rs761665438	p.Gly871Glu	missense variant	-	NC_000009.12:g.5787247C>T	ExAC,TOPMed,gnomAD
rs1271715392	p.Gly871Arg	missense variant	-	NC_000009.12:g.5787248C>G	TOPMed
rs761665438	p.Gly871Val	missense variant	-	NC_000009.12:g.5787247C>A	ExAC,TOPMed,gnomAD
rs200810811	p.Asp873Asn	missense variant	-	NC_000009.12:g.5787242C>T	ExAC,TOPMed,gnomAD
rs763882864	p.Lys874Asn	missense variant	-	NC_000009.12:g.5787237C>A	ExAC,gnomAD
rs1173683019	p.Lys874Glu	missense variant	-	NC_000009.12:g.5787239T>C	gnomAD
rs1280887382	p.Arg875Thr	missense variant	-	NC_000009.12:g.5787235C>G	gnomAD
rs368422058	p.Ser876Cys	missense variant	-	NC_000009.12:g.5787232G>C	ESP,ExAC,TOPMed,gnomAD
rs368422058	p.Ser876Phe	missense variant	-	NC_000009.12:g.5787232G>A	ESP,ExAC,TOPMed,gnomAD
rs1468927854	p.Pro877His	missense variant	-	NC_000009.12:g.5787229G>T	TOPMed,gnomAD
COSM3848622	p.Gln878Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5787227G>C	NCI-TCGA Cosmic
rs774826469	p.Gln878Pro	missense variant	-	NC_000009.12:g.5787226T>G	ExAC,gnomAD
rs1461321776	p.Gln878Ter	stop gained	-	NC_000009.12:g.5787227G>A	TOPMed
rs1261783479	p.Asp880Gly	missense variant	-	NC_000009.12:g.5787220T>C	gnomAD
rs759247426	p.Asp880Asn	missense variant	-	NC_000009.12:g.5787221C>T	ExAC,gnomAD
rs759247426	p.Asp880His	missense variant	-	NC_000009.12:g.5787221C>G	ExAC,gnomAD
rs776490244	p.Ala881Val	missense variant	-	NC_000009.12:g.5787217G>A	ExAC,gnomAD
rs770710463	p.Leu882Val	missense variant	-	NC_000009.12:g.5787215G>C	ExAC,TOPMed,gnomAD
rs1280999948	p.Lys885Glu	missense variant	-	NC_000009.12:g.5787206T>C	gnomAD
rs1035894014	p.Pro887Gln	missense variant	-	NC_000009.12:g.5787199G>T	TOPMed
NCI-TCGA novel	p.Asp888Ter	frameshift	-	NC_000009.12:g.5787197_5787198insA	NCI-TCGA
rs778220532	p.Thr890Ile	missense variant	-	NC_000009.12:g.5787190G>A	ExAC,gnomAD
rs772417997	p.Phe891Leu	missense variant	-	NC_000009.12:g.5787188A>G	ExAC,gnomAD
rs748729945	p.Pro892Ser	missense variant	-	NC_000009.12:g.5787185G>A	ExAC,TOPMed,gnomAD
rs755109522	p.Ser893Pro	missense variant	-	NC_000009.12:g.5787182A>G	ExAC,gnomAD
rs146929158	p.Ser893Cys	missense variant	-	NC_000009.12:g.5787181G>C	ESP,ExAC,gnomAD
rs148691186	p.Thr898Ala	missense variant	-	NC_000009.12:g.5787167T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs758241482	p.Thr898Ile	missense variant	-	NC_000009.12:g.5787166G>A	ExAC,gnomAD
rs758241482	p.Thr898Ser	missense variant	-	NC_000009.12:g.5787166G>C	ExAC,gnomAD
rs759046818	p.Asp900Asn	missense variant	-	NC_000009.12:g.5787161C>T	ExAC,TOPMed,gnomAD
rs1331977798	p.Leu901Ile	missense variant	-	NC_000009.12:g.5787158G>T	gnomAD
rs776293176	p.Phe902Ser	missense variant	-	NC_000009.12:g.5787154A>G	ExAC,gnomAD
rs773417186	p.Val903Ala	missense variant	-	NC_000009.12:g.5787151A>G	ExAC,gnomAD
rs200756546	p.Val903Leu	missense variant	-	NC_000009.12:g.5787152C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200756546	p.Val903Ile	missense variant	-	NC_000009.12:g.5787152C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369820037	p.Ter905Lys	stop lost	-	NC_000009.12:g.5787146A>T	ESP,TOPMed

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0008237	metallopeptidase activity	IEA
GO:0046872	metal ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006508	proteolysis	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005789	endoplasmic reticulum membrane	IEA
GO:0016020	membrane	HDA
GO:0016021	integral component of membrane	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C070055	2,3',4,4',5-pentachlorobiphenyl	2,3',4,4',5-pentachlorobiphenyl results in increased expression of ERMP1 mRNA	31388691
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of ERMP1 mRNA	21346803
C472791	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in increased expression of ERMP1 mRNA	16788091
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ERMP1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ERMP1 mRNA	27188386
C029370	4-toluidine	4-toluidine results in increased expression of ERMP1 mRNA	27638505
C496492	abrine	abrine results in decreased expression of ERMP1 mRNA	31054353
D000082	Acetaminophen	[Clofibrate co-treated with Acetaminophen] affects the expression of ERMP1 mRNA	17585979
D000082	Acetaminophen	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of ERMP1 mRNA]	17585979
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of ERMP1 mRNA	19770486
D001151	Arsenic	Arsenic affects the expression of ERMP1 mRNA	18414638
D001280	Atrazine	Atrazine results in increased expression of ERMP1 mRNA	22378314
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of ERMP1 mRNA	19770486
C023888	beta-hexachlorocyclohexane	beta-hexachlorocyclohexane results in decreased expression of ERMP1 mRNA	25270620
C006780	bisphenol A	bisphenol A results in decreased expression of ERMP1 mRNA	30816183
C006780	bisphenol A	bisphenol A results in increased expression of ERMP1 mRNA	25181051
D002117	Calcitriol	Calcitriol results in increased expression of ERMP1 mRNA	16002434; 26485663;
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of ERMP1 mRNA	31150632
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of ERMP1 mRNA	30723492
D002794	Choline	[Dietary Fats co-treated with Choline deficiency] results in increased expression of ERMP1 mRNA	29246445
D002794	Choline	PANX1 gene mutant form inhibits the reaction [[Dietary Fats co-treated with Choline deficiency] results in increased expression of ERMP1 mRNA]	29246445
D002945	Cisplatin	Cisplatin affects the expression of ERMP1 mRNA	23300844
D002994	Clofibrate	[Clofibrate co-treated with Acetaminophen] affects the expression of ERMP1 mRNA	17585979
D002994	Clofibrate	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of ERMP1 mRNA]	17585979
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of ERMP1 mRNA	19549813
C009160	cyclonite	cyclonite results in decreased expression of ERMP1 mRNA	25559034
D016572	Cyclosporine	Cyclosporine results in decreased expression of ERMP1 mRNA	20106945; 25562108; 27989131;
D000077209	Decitabine	Decitabine affects the expression of ERMP1 mRNA	23300844
D004041	Dietary Fats	[Dietary Fats co-treated with Choline deficiency] results in increased expression of ERMP1 mRNA	29246445
D004041	Dietary Fats	Dietary Fats results in increased expression of ERMP1 mRNA	19030233; 30120929;
D004041	Dietary Fats	PANX1 gene mutant form inhibits the reaction [[Dietary Fats co-treated with Choline deficiency] results in increased expression of ERMP1 mRNA]	29246445
D004041	Dietary Fats	Rimonabant inhibits the reaction [Dietary Fats results in increased expression of ERMP1 mRNA]	19030233
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ERMP1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ERMP1 mRNA	27188386
D018120	Finasteride	Finasteride results in increased expression of ERMP1 mRNA	24136188
D005485	Flutamide	Flutamide results in increased expression of ERMP1 mRNA	24136188
D005839	Gentamicins	Gentamicins results in decreased expression of ERMP1 mRNA	22061828
C000593030	GSK-J4	GSK-J4 results in increased expression of ERMP1 mRNA	29301935
D007649	Ketamine	Ketamine results in increased expression of ERMP1 mRNA	20080153
D007657	Ketone Bodies	Ketone Bodies results in decreased expression of ERMP1 mRNA	16807920
C482199	lipopolysaccharide, E coli O55-B5	lipopolysaccharide, E coli O55-B5 results in increased expression of ERMP1 mRNA	24972896
D008727	Methotrexate	Methotrexate results in decreased expression of ERMP1 mRNA	24449571
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of ERMP1 mRNA	23179753; 27188386;
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of ERMP1 mRNA	23649840
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate results in decreased expression of ERMP1 mRNA	31059758
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of ERMP1 mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of ERMP1 mRNA	25620056
C051752	nefazodone	nefazodone results in increased expression of ERMP1 mRNA	24136188
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of ERMP1 mRNA	26251327
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased methylation of ERMP1 promoter	26251327
D010269	Paraquat	Paraquat results in increased expression of ERMP1 mRNA	21371552
D010416	Pentachlorophenol	Pentachlorophenol affects the expression of ERMP1 mRNA	23892564
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of ERMP1 protein	26879310
D010634	Phenobarbital	NR1I3 protein affects the reaction [Phenobarbital results in increased expression of ERMP1 mRNA]	19482888
D010634	Phenobarbital	Phenobarbital results in increased expression of ERMP1 mRNA	19482888
D010795	Phthalic Acids	Phthalic Acids results in increased expression of ERMP1 mRNA	21061450
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of ERMP1 mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in increased expression of ERMP1 mRNA	17426115; 18301758; 23811191;
C027373	potassium chromate(VI)	potassium chromate(VI) results in increased expression of ERMP1 mRNA	22714537
D000077185	Resveratrol	Resveratrol results in increased expression of ERMP1 protein	25505154
D000077285	Rimonabant	Rimonabant inhibits the reaction [Dietary Fats results in increased expression of ERMP1 mRNA]	19030233
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of ERMP1 mRNA	25895662
D012906	Smoke	Smoke results in decreased expression of ERMP1 mRNA	21095227
D000077210	Sunitinib	Sunitinib results in decreased expression of ERMP1 mRNA	31533062
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of ERMP1 mRNA	26141394
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of ERMP1 mRNA	22574217
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of ERMP1 mRNA	20106945; 21632981;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of ERMP1 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[TIPARP gene mutant form results in increased susceptibility to Tetrachlorodibenzodioxin] which results in increased expression of ERMP1 mRNA	25975270
D014212	Tretinoin	Tretinoin results in increased expression of ERMP1 mRNA	16249480
D014212	Tretinoin	Tretinoin results in increased expression of ERMP1 mRNA	16788091
D014241	Trichloroethylene	Trichloroethylene results in increased expression of ERMP1 mRNA	19448997
D014241	Trichloroethylene	Trichloroethylene results in increased methylation of ERMP1 gene	27618143
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ERMP1 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of ERMP1 mRNA	24935251; 26272509;
D000077288	Troglitazone	Troglitazone results in increased expression of ERMP1 mRNA	28973697
D014580	Ursodeoxycholic Acid	Ursodeoxycholic Acid affects the expression of ERMP1 mRNA	18422935
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ERMP1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of ERMP1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of ERMP1 mRNA	19101580; 23179753; 24383497; 26272509;
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of ERMP1 gene	25560391

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-1015	Disulfide bond
KW-0256	Endoplasmic reticulum
KW-0325	Glycoprotein
KW-0378	Hydrolase
KW-0472	Membrane
KW-0479	Metal-binding
KW-0482	Metalloprotease
KW-0621	Polymorphism
KW-0645	Protease
KW-1185	Reference proteome
KW-0812	Transmembrane
KW-1133	Transmembrane helix
KW-0862	Zinc

Interpro

InterPro ID	InterPro Term
IPR007484	Peptidase_M28

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF04389	Peptidase_M28

Gene: ERMP1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction