CleftGeneDB-Search

Gene: WFIKKN1

Basic information

Tag	Content
Uniprot ID	Q96NZ8; Q7LDW0; Q8NBQ1; Q96S20;
Entrez ID	117166
Genbank protein ID	AAK61237.1; AAI01603.1; AAL18839.1; AAI01607.1; BAC11566.1;
Genbank nucleotide ID	NM_053284.2
Ensembl protein ID	ENSP00000324763
Ensembl nucleotide ID	ENSG00000127578
Gene name	WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 1
Gene symbol	WFIKKN1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Protease-inhibitor that contains multiple distinct protease inhibitor domains. Probably has serine protease- and metalloprotease-inhibitor activity (By similarity).
Sequence	MPALRPLLPL LLLLRLTSGA GLLPGLGSHP GVCPNQLSPN LWVDAQSTCE RECSRDQDCA 60 AAEKCCINVC GLHSCVAARF PGSPAAPTTA ASCEGFVCPQ QGSDCDIWDG QPVCRCRDRC 120 EKEPSFTCAS DGLTYYNRCY MDAEACLRGL HLHIVPCKHV LSWPPSSPGP PETTARPTPG 180 AAPVPPALYS SPSPQAVQVG GTASLHCDVS GRPPPAVTWE KQSHQRENLI MRPDQMYGNV 240 VVTSIGQLVL YNARPEDAGL YTCTARNAAG LLRADFPLSV VQREPARDAA PSIPAPAECL 300 PDVQACTGPT SPHLVLWHYD PQRGGCMTFP ARGCDGAARG FETYEACQQA CARGPGDACV 360 LPAVQGPCRG WEPRWAYSPL LQQCHPFVYG GCEGNGNNFH SRESCEDACP VPRTPPCRAC 420 RLRSKLALSL CRSDFAIVGR LTEVLEEPEA AGGIARVALE DVLKDDKMGL KFLGTKYLEV 480 TLSGMDWACP CPNMTAGDGP LVIMGEVRDG VAVLDAGSYV RAASEKRVKK ILELLEKQAC 540 ELLNRFQD 548

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

PDB ID
2DDI
2DDJ
2DDI

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	WFIKKN1	540233	E1BKQ4		Bos taurus	Prediction	More>>
1:1 ortholog	WFIKKN1	102172587	A0A452E4Z1		Capra hircus	Prediction	More>>
1:1 ortholog	WFIKKN1	117166	Q96NZ8		Homo sapiens	Prediction	More>>
1:1 ortholog	Wfikkn1	215001	Q8R0S6	CPO	Mus musculus	Publication	More>>
1:1 ortholog	WFIKKN1	107968756	A0A2I3S3H3		Pan troglodytes	Prediction	More>>
1:1 ortholog	WFIKKN1		A0A286ZU02		Sus scrofa	Prediction	More>>
1:1 ortholog	Wfikkn1	363555	P0C5J5		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
NCI-TCGA novel	p.Pro2Thr	missense variant	-	NC_000016.10:g.631257C>A	NCI-TCGA
rs376127399	p.Ala3Pro	missense variant	-	NC_000016.10:g.631260G>C	1000Genomes,ESP,TOPMed,gnomAD
rs376127399	p.Ala3Thr	missense variant	-	NC_000016.10:g.631260G>A	1000Genomes,ESP,TOPMed,gnomAD
rs1245938854	p.Arg5Cys	missense variant	-	NC_000016.10:g.631266C>T	TOPMed,gnomAD
rs370788184	p.Arg5His	missense variant	-	NC_000016.10:g.631267G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762714937	p.Pro6Thr	missense variant	-	NC_000016.10:g.631269C>A	ExAC,TOPMed,gnomAD
rs531854176	p.Leu7Pro	missense variant	-	NC_000016.10:g.631273T>C	1000Genomes,ExAC,gnomAD
rs766998885	p.Leu8Gln	missense variant	-	NC_000016.10:g.631276T>A	ExAC,gnomAD
rs766998885	p.Leu8Pro	missense variant	-	NC_000016.10:g.631276T>C	ExAC,gnomAD
rs750335031	p.Pro9Thr	missense variant	-	NC_000016.10:g.631278C>A	ExAC
rs141017859	p.Pro9Arg	missense variant	-	NC_000016.10:g.631279C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141017859	p.Pro9Leu	missense variant	-	NC_000016.10:g.631279C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751793337	p.Leu11Pro	missense variant	-	NC_000016.10:g.631285T>C	ExAC,gnomAD
rs1274637395	p.Leu12Phe	missense variant	-	NC_000016.10:g.631287C>T	gnomAD
rs1417777172	p.Leu12His	missense variant	-	NC_000016.10:g.631288T>A	TOPMed,gnomAD
rs547572981	p.Arg15Trp	missense variant	-	NC_000016.10:g.631296C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs746390568	p.Arg15Pro	missense variant	-	NC_000016.10:g.631297G>C	ExAC,TOPMed,gnomAD
rs746390568	p.Arg15Gln	missense variant	-	NC_000016.10:g.631297G>A	ExAC,TOPMed,gnomAD
rs1359672239	p.Leu16Pro	missense variant	-	NC_000016.10:g.631300T>C	TOPMed,gnomAD
rs373808690	p.Ser18Leu	missense variant	-	NC_000016.10:g.631306C>T	ESP,ExAC,TOPMed,gnomAD
rs1216165752	p.Gly19Arg	missense variant	-	NC_000016.10:g.631308G>C	gnomAD
rs771516875	p.Ala20Val	missense variant	-	NC_000016.10:g.631312C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala20LeuPheSerTerUnkUnkUnk	frameshift	-	NC_000016.10:g.631307G>-	NCI-TCGA
rs772731030	p.Gly21Ala	missense variant	-	NC_000016.10:g.631315G>C	ExAC,TOPMed,gnomAD
rs1192901671	p.Leu22Ser	missense variant	-	NC_000016.10:g.631318T>C	TOPMed
rs147569364	p.Pro24Ser	missense variant	-	NC_000016.10:g.631323C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs960064053	p.Leu26Pro	missense variant	-	NC_000016.10:g.631330T>C	TOPMed
rs1458243361	p.Ser28Arg	missense variant	-	NC_000016.10:g.631337C>G	gnomAD
rs144348316	p.Ser28Asn	missense variant	-	NC_000016.10:g.631336G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1458243361	p.Ser28Arg	missense variant	-	NC_000016.10:g.631337C>A	gnomAD
rs1323250609	p.His29Gln	missense variant	-	NC_000016.10:g.631340C>A	TOPMed,gnomAD
rs80030357	p.Pro30Leu	missense variant	-	NC_000016.10:g.631342C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs80030357	p.Pro30Arg	missense variant	-	NC_000016.10:g.631342C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs80030357	p.Pro30Gln	missense variant	-	NC_000016.10:g.631342C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs962814893	p.Gly31Ser	missense variant	-	NC_000016.10:g.631344G>A	gnomAD
rs767514197	p.Gly31Ala	missense variant	-	NC_000016.10:g.631345G>C	ExAC,gnomAD
rs1023147765	p.Val32Met	missense variant	-	NC_000016.10:g.631347G>A	TOPMed,gnomAD
rs756227828	p.Pro34Ser	missense variant	-	NC_000016.10:g.631353C>T	ExAC,gnomAD
rs1223301653	p.Gln36Arg	missense variant	-	NC_000016.10:g.631360A>G	gnomAD
rs755402719	p.Leu37Pro	missense variant	-	NC_000016.10:g.631363T>C	ExAC,gnomAD
rs1419148251	p.Leu41Pro	missense variant	-	NC_000016.10:g.631375T>C	TOPMed
NCI-TCGA novel	p.Leu41Met	missense variant	-	NC_000016.10:g.631374C>A	NCI-TCGA
rs747781969	p.Val43Leu	missense variant	-	NC_000016.10:g.631380G>C	ExAC,TOPMed,gnomAD
rs143772631	p.Asp44Asn	missense variant	-	NC_000016.10:g.631383G>A	ESP,ExAC,TOPMed,gnomAD
rs1424399431	p.Ala45Val	missense variant	-	NC_000016.10:g.631387C>T	TOPMed
rs1412058920	p.Gln46His	missense variant	-	NC_000016.10:g.631391G>C	gnomAD
rs1407501814	p.Ser47Asn	missense variant	-	NC_000016.10:g.631393G>A	gnomAD
rs1165933336	p.Thr48Asn	missense variant	-	NC_000016.10:g.631396C>A	gnomAD
rs934849628	p.CysGlu49Ter	stop gained	-	NC_000016.10:g.631400_631401del	TOPMed
rs141113456	p.Glu50Asp	missense variant	-	NC_000016.10:g.631403G>T	ESP,TOPMed
rs746596297	p.Glu50Lys	missense variant	-	NC_000016.10:g.631401G>A	ExAC,gnomAD
rs770412943	p.Arg51Cys	missense variant	-	NC_000016.10:g.631404C>T	ExAC,TOPMed
rs574160125	p.Arg51His	missense variant	-	NC_000016.10:g.631405G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs775302766	p.Glu52Gln	missense variant	-	NC_000016.10:g.631407G>C	ExAC,TOPMed,gnomAD
rs775302766	p.Glu52Lys	missense variant	-	NC_000016.10:g.631407G>A	ExAC,TOPMed,gnomAD
rs762630871	p.Glu52Ala	missense variant	-	NC_000016.10:g.631408A>C	ExAC,TOPMed,gnomAD
rs775302766	p.Glu52Ter	stop gained	-	NC_000016.10:g.631407G>T	ExAC,TOPMed,gnomAD
rs750602339	p.Cys53Tyr	missense variant	-	NC_000016.10:g.631411G>A	ExAC,gnomAD
rs767816444	p.Cys53Arg	missense variant	-	NC_000016.10:g.631410T>C	ExAC,gnomAD
rs138836137	p.Ser54Ile	missense variant	-	NC_000016.10:g.631414G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138836137	p.Ser54Asn	missense variant	-	NC_000016.10:g.631414G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141968670	p.Asp56Glu	missense variant	-	NC_000016.10:g.631421C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3361858	p.Gln57Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.631423A>T	NCI-TCGA Cosmic
rs1186038150	p.Asp58Asn	missense variant	-	NC_000016.10:g.632582G>A	TOPMed
rs1275541985	p.Cys59Arg	missense variant	-	NC_000016.10:g.632585T>C	gnomAD
rs780094283	p.Ala60Val	missense variant	-	NC_000016.10:g.632589C>T	ExAC,gnomAD
rs1322314813	p.Glu63Lys	missense variant	-	NC_000016.10:g.632597G>A	gnomAD
COSM4834320	p.Glu63Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.632597G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu63GlyPheSerTerUnkUnkUnk	frameshift	-	NC_000016.10:g.632598A>-	NCI-TCGA
NCI-TCGA novel	p.Lys64SerPheSerTerUnkUnkUnk	frameshift	-	NC_000016.10:g.632600A>-	NCI-TCGA
rs373322157	p.Cys65Ter	stop gained	-	NC_000016.10:g.632605C>A	ESP,ExAC,TOPMed,gnomAD
rs768530158	p.Cys65Arg	missense variant	-	NC_000016.10:g.632603T>C	ExAC,gnomAD
rs1481719747	p.Cys66Ser	missense variant	-	NC_000016.10:g.632607G>C	TOPMed
rs776989382	p.Val69Met	missense variant	-	NC_000016.10:g.632615G>A	ExAC,gnomAD
rs1203890065	p.Val69Ala	missense variant	-	NC_000016.10:g.632616T>C	TOPMed
COSM972697	p.Val69Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.632616T>A	NCI-TCGA Cosmic
rs1210913861	p.Leu72Pro	missense variant	-	NC_000016.10:g.632625T>C	TOPMed,gnomAD
rs138345591	p.His73Tyr	missense variant	-	NC_000016.10:g.632627C>T	ESP,ExAC,TOPMed,gnomAD
rs1243604676	p.Ser74Asn	missense variant	-	NC_000016.10:g.632631G>A	TOPMed
rs765174836	p.Cys75Ter	stop gained	-	NC_000016.10:g.632635C>A	ExAC,TOPMed,gnomAD
rs1451215215	p.Cys75Gly	missense variant	-	NC_000016.10:g.632633T>G	gnomAD
rs753250560	p.Val76Met	missense variant	-	NC_000016.10:g.632636G>A	ExAC,gnomAD
rs757780773	p.Arg79Ser	missense variant	-	NC_000016.10:g.632645C>A	ExAC,TOPMed,gnomAD
rs1158527369	p.Arg79His	missense variant	-	NC_000016.10:g.632646G>A	TOPMed,gnomAD
rs757780773	p.Arg79Cys	missense variant	-	NC_000016.10:g.632645C>T	ExAC,TOPMed,gnomAD
rs149287908	p.Gly82Ser	missense variant	-	NC_000016.10:g.632654G>A	ESP,ExAC,TOPMed,gnomAD
rs767220342	p.Ser83Asn	missense variant	-	NC_000016.10:g.632658G>A	ExAC,gnomAD
rs755659397	p.Pro84Gln	missense variant	-	NC_000016.10:g.632661C>A	ExAC,gnomAD
rs779393776	p.Ala86Val	missense variant	-	NC_000016.10:g.632667C>T	ExAC,TOPMed,gnomAD
rs1332320046	p.Ala86Thr	missense variant	-	NC_000016.10:g.632666G>A	gnomAD
rs144565157	p.Pro87Leu	missense variant	-	NC_000016.10:g.632670C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148475508	p.Thr88Lys	missense variant	-	NC_000016.10:g.632673C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148475508	p.Thr88Met	missense variant	-	NC_000016.10:g.632673C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1356151197	p.Thr88Pro	missense variant	-	NC_000016.10:g.632672A>C	TOPMed,gnomAD
rs973217087	p.Thr89Ile	missense variant	-	NC_000016.10:g.632676C>T	gnomAD
rs769947524	p.Ala90Val	missense variant	-	NC_000016.10:g.632679C>T	ExAC,TOPMed,gnomAD
COSM972714	p.Ala90Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.632678G>A	NCI-TCGA Cosmic
rs1471550417	p.Ala91Ser	missense variant	-	NC_000016.10:g.632681G>T	gnomAD
rs1220392703	p.Cys93Phe	missense variant	-	NC_000016.10:g.632688G>T	TOPMed
rs762221711	p.Glu94Lys	missense variant	-	NC_000016.10:g.632690G>A	ExAC,TOPMed,gnomAD
rs767809202	p.Gly95Ser	missense variant	-	NC_000016.10:g.632693G>A	ExAC,gnomAD
rs1424931976	p.Val97Ala	missense variant	-	NC_000016.10:g.632700T>C	gnomAD
rs866647250	p.Val97Met	missense variant	-	NC_000016.10:g.632699G>A	TOPMed,gnomAD
rs1023949395	p.Cys98Ter	stop gained	-	NC_000016.10:g.632704C>A	TOPMed,gnomAD
rs1393624182	p.Pro99Thr	missense variant	-	NC_000016.10:g.632705C>A	gnomAD
rs755676019	p.Gln101Pro	missense variant	-	NC_000016.10:g.632712A>C	ExAC,gnomAD
rs1242995004	p.Gly102Asp	missense variant	-	NC_000016.10:g.632715G>A	gnomAD
rs753331799	p.Ser103Leu	missense variant	-	NC_000016.10:g.632718C>T	ExAC,gnomAD
rs754507333	p.Asp104Glu	missense variant	-	NC_000016.10:g.632722C>G	ExAC,TOPMed,gnomAD
rs1484108436	p.Cys105Tyr	missense variant	-	NC_000016.10:g.632724G>A	TOPMed,gnomAD
rs748042677	p.Asp106Asn	missense variant	-	NC_000016.10:g.632726G>A	ExAC,TOPMed,gnomAD
rs147137382	p.Asp106Glu	missense variant	-	NC_000016.10:g.632728C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746121925	p.Asp109Asn	missense variant	-	NC_000016.10:g.632735G>A	ExAC,gnomAD
rs140254693	p.Gly110Arg	missense variant	-	NC_000016.10:g.632738G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140254693	p.Gly110Arg	missense variant	-	NC_000016.10:g.632738G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1197335179	p.Gln111Arg	missense variant	-	NC_000016.10:g.632742A>G	TOPMed
rs184792782	p.Val113Met	missense variant	-	NC_000016.10:g.632747G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs913056684	p.Cys114Gly	missense variant	-	NC_000016.10:g.632750T>G	TOPMed,gnomAD
rs1259881766	p.Cys114Tyr	missense variant	-	NC_000016.10:g.632751G>A	TOPMed
rs761073437	p.Arg115His	missense variant	-	NC_000016.10:g.632754G>A	ExAC,TOPMed,gnomAD
rs773500880	p.Arg115Cys	missense variant	-	NC_000016.10:g.632753C>T	ExAC,TOPMed,gnomAD
rs753516170	p.Arg117His	missense variant	-	NC_000016.10:g.632760G>A	ExAC,TOPMed,gnomAD
rs753516170	p.Arg117Leu	missense variant	-	NC_000016.10:g.632760G>T	ExAC,TOPMed,gnomAD
rs766016577	p.Arg117Cys	missense variant	-	NC_000016.10:g.632759C>T	ExAC,TOPMed,gnomAD
rs766016577	p.Arg117Ser	missense variant	-	NC_000016.10:g.632759C>A	ExAC,TOPMed,gnomAD
rs764775455	p.Asp118His	missense variant	-	NC_000016.10:g.632762G>C	ExAC,TOPMed,gnomAD
rs1205241348	p.Asp118Ala	missense variant	-	NC_000016.10:g.632763A>C	gnomAD
rs752714028	p.Arg119Cys	missense variant	-	NC_000016.10:g.632765C>T	ExAC,TOPMed
rs1008899748	p.Arg119His	missense variant	-	NC_000016.10:g.632766G>A	gnomAD
rs752714028	p.Arg119Gly	missense variant	-	NC_000016.10:g.632765C>G	ExAC,TOPMed
rs758361279	p.Cys120Phe	missense variant	-	NC_000016.10:g.632769G>T	ExAC
rs777829410	p.Glu121Gln	missense variant	-	NC_000016.10:g.632771G>C	ExAC,gnomAD
rs1383474895	p.Glu121Gly	missense variant	-	NC_000016.10:g.632772A>G	TOPMed
rs777829410	p.Glu121Lys	missense variant	-	NC_000016.10:g.632771G>A	ExAC,gnomAD
rs751349958	p.Lys122Glu	missense variant	-	NC_000016.10:g.632774A>G	ExAC,TOPMed,gnomAD
rs1244725700	p.Glu123Lys	missense variant	-	NC_000016.10:g.632777G>A	gnomAD
rs757066205	p.Pro124Leu	missense variant	-	NC_000016.10:g.632781C>T	ExAC,TOPMed,gnomAD
rs139111724	p.Thr127Ser	missense variant	-	NC_000016.10:g.632790C>G	ESP,ExAC,TOPMed,gnomAD
rs1015387816	p.Thr127Pro	missense variant	-	NC_000016.10:g.632789A>C	TOPMed,gnomAD
rs139111724	p.Thr127Ile	missense variant	-	NC_000016.10:g.632790C>T	ESP,ExAC,TOPMed,gnomAD
rs1015387816	p.Thr127Ala	missense variant	-	NC_000016.10:g.632789A>G	TOPMed,gnomAD
rs768723920	p.Cys128Ter	stop gained	-	NC_000016.10:g.632794C>A	ExAC,TOPMed,gnomAD
rs1170484195	p.Ala129Thr	missense variant	-	NC_000016.10:g.632795G>A	gnomAD
rs994605718	p.Ser130Leu	missense variant	-	NC_000016.10:g.632799C>T	gnomAD
rs773768921	p.Asp131His	missense variant	-	NC_000016.10:g.632801G>C	ExAC,gnomAD
rs776155166	p.Gly132Val	missense variant	-	NC_000016.10:g.632805G>T	ExAC,gnomAD
rs771270085	p.Gly132Ser	missense variant	-	NC_000016.10:g.632804G>A	ExAC,TOPMed,gnomAD
rs759225515	p.Leu133Phe	missense variant	-	NC_000016.10:g.632807C>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr134Ala	missense variant	-	NC_000016.10:g.632810A>G	NCI-TCGA
rs1034946475	p.Asn137Ser	missense variant	-	NC_000016.10:g.632820A>G	TOPMed,gnomAD
rs762521285	p.Arg138Cys	missense variant	-	NC_000016.10:g.632822C>T	ExAC,TOPMed,gnomAD
rs751498446	p.Arg138His	missense variant	-	NC_000016.10:g.632823G>A	ExAC,TOPMed,gnomAD
rs762521285	p.Arg138Gly	missense variant	-	NC_000016.10:g.632822C>G	ExAC,TOPMed,gnomAD
rs373234795	p.Cys139Ser	missense variant	-	NC_000016.10:g.632825T>A	ESP,TOPMed,gnomAD
rs373234795	p.Cys139Arg	missense variant	-	NC_000016.10:g.632825T>C	ESP,TOPMed,gnomAD
rs1461721898	p.Met141Ile	missense variant	-	NC_000016.10:g.632833G>T	TOPMed,gnomAD
rs780971121	p.Ala143Ser	missense variant	-	NC_000016.10:g.632837G>T	ExAC,gnomAD
COSM435572	p.Ala143Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.632837G>A	NCI-TCGA Cosmic
COSM379076	p.Ala143Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.632838C>T	NCI-TCGA Cosmic
rs779079658	p.Glu144Gln	missense variant	-	NC_000016.10:g.632840G>C	ExAC,TOPMed,gnomAD
rs779079658	p.Glu144Lys	missense variant	-	NC_000016.10:g.632840G>A	ExAC,TOPMed,gnomAD
rs1431016184	p.Ala145Pro	missense variant	-	NC_000016.10:g.632843G>C	gnomAD
rs748297233	p.Ala145Asp	missense variant	-	NC_000016.10:g.632844C>A	ExAC,TOPMed,gnomAD
rs748297233	p.Ala145Val	missense variant	-	NC_000016.10:g.632844C>T	ExAC,TOPMed,gnomAD
rs913631372	p.Cys146Tyr	missense variant	-	NC_000016.10:g.632847G>A	gnomAD
rs772129778	p.Arg148Trp	missense variant	-	NC_000016.10:g.632852C>T	ExAC,TOPMed,gnomAD
rs778156475	p.Arg148Gln	missense variant	-	NC_000016.10:g.632853G>A	ExAC,TOPMed,gnomAD
rs149216334	p.Gly149Ser	missense variant	-	NC_000016.10:g.632855G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1365577663	p.Gly149Asp	missense variant	-	NC_000016.10:g.632856G>A	TOPMed,gnomAD
rs759955599	p.Leu150Met	missense variant	-	NC_000016.10:g.632858C>A	ExAC,gnomAD
COSM3511201	p.Leu152Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.632864C>T	NCI-TCGA Cosmic
rs1340929297	p.His153Arg	missense variant	-	NC_000016.10:g.632868A>G	TOPMed
rs544104251	p.Ile154Met	missense variant	-	NC_000016.10:g.632872C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs775276803	p.Ile154Val	missense variant	-	NC_000016.10:g.632870A>G	ExAC,gnomAD
rs774157032	p.Val155Met	missense variant	-	NC_000016.10:g.632873G>A	ExAC,TOPMed,gnomAD
rs774157032	p.Val155Leu	missense variant	-	NC_000016.10:g.632873G>C	ExAC,TOPMed,gnomAD
rs761768121	p.Pro156Leu	missense variant	-	NC_000016.10:g.632877C>T	ExAC,gnomAD
rs374279728	p.His159Gln	missense variant	-	NC_000016.10:g.632887C>A	ExAC,TOPMed,gnomAD
rs1200903477	p.Val160Met	missense variant	-	NC_000016.10:g.632888G>A	TOPMed,gnomAD
rs750262036	p.Leu161Pro	missense variant	-	NC_000016.10:g.632892T>C	ExAC,gnomAD
rs1426425875	p.Ser162Cys	missense variant	-	NC_000016.10:g.632894A>T	TOPMed
rs755902478	p.Ser162Arg	missense variant	-	NC_000016.10:g.632896C>G	ExAC,gnomAD
rs1383349778	p.Trp163Leu	missense variant	-	NC_000016.10:g.632898G>T	TOPMed
rs374779276	p.Pro164Gln	missense variant	-	NC_000016.10:g.632901C>A	ESP,ExAC,TOPMed,gnomAD
rs374779276	p.Pro164Leu	missense variant	-	NC_000016.10:g.632901C>T	ESP,ExAC,TOPMed,gnomAD
rs777871655	p.Pro165Ser	missense variant	-	NC_000016.10:g.632903C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro165His	missense variant	-	NC_000016.10:g.632904C>A	NCI-TCGA
rs1179144052	p.Ser166Gly	missense variant	-	NC_000016.10:g.632906A>G	TOPMed
rs562663373	p.Pro168Leu	missense variant	-	NC_000016.10:g.632913C>T	1000Genomes,TOPMed
rs746301177	p.Pro170Arg	missense variant	-	NC_000016.10:g.632919C>G	ExAC,TOPMed,gnomAD
rs746301177	p.Pro170Leu	missense variant	-	NC_000016.10:g.632919C>T	ExAC,TOPMed,gnomAD
rs199891171	p.Pro171Leu	missense variant	-	NC_000016.10:g.632922C>T	1000Genomes,ExAC,TOPMed
rs199891171	p.Pro171Arg	missense variant	-	NC_000016.10:g.632922C>G	1000Genomes,ExAC,TOPMed
rs368611876	p.Glu172Asp	missense variant	-	NC_000016.10:g.632926G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1303802738	p.Ala175Thr	missense variant	-	NC_000016.10:g.632933G>A	TOPMed
rs761200334	p.Arg176Cys	missense variant	-	NC_000016.10:g.632936C>T	ExAC,TOPMed,gnomAD
rs767560879	p.Arg176His	missense variant	-	NC_000016.10:g.632937G>A	ExAC,TOPMed,gnomAD
rs1291847637	p.Pro179Arg	missense variant	-	NC_000016.10:g.632946C>G	TOPMed,gnomAD
rs1291847637	p.Pro179Leu	missense variant	-	NC_000016.10:g.632946C>T	TOPMed,gnomAD
rs1482476501	p.Gly180Glu	missense variant	-	NC_000016.10:g.632949G>A	gnomAD
rs760480149	p.Ala181Asp	missense variant	-	NC_000016.10:g.632952C>A	ExAC,gnomAD
rs1203030723	p.Ala181Pro	missense variant	-	NC_000016.10:g.632951G>C	gnomAD
rs752948422	p.Ala182Val	missense variant	-	NC_000016.10:g.632955C>T	ExAC,TOPMed,gnomAD
rs372338381	p.Ala182Thr	missense variant	-	NC_000016.10:g.632954G>A	ESP,ExAC,TOPMed,gnomAD
rs1164511205	p.Pro183Leu	missense variant	-	NC_000016.10:g.632958C>T	gnomAD
rs751035842	p.Val184Met	missense variant	-	NC_000016.10:g.632960G>A	ExAC,TOPMed,gnomAD
rs751699283	p.Pro185Leu	missense variant	-	NC_000016.10:g.632964C>T	ExAC,gnomAD
rs1489673468	p.Leu188Arg	missense variant	-	NC_000016.10:g.632973T>G	TOPMed
rs1221398438	p.Ser190Asn	missense variant	-	NC_000016.10:g.632979G>A	TOPMed
rs1380376791	p.Ser191Asn	missense variant	-	NC_000016.10:g.632982G>A	gnomAD
rs781778911	p.Pro192Leu	missense variant	-	NC_000016.10:g.632985C>T	ExAC,TOPMed,gnomAD
rs756548699	p.Pro194Ser	missense variant	-	NC_000016.10:g.632990C>T	ExAC,TOPMed,gnomAD
rs1333960252	p.Pro194Leu	missense variant	-	NC_000016.10:g.632991C>T	gnomAD
rs1284231558	p.Gln195Glu	missense variant	-	NC_000016.10:g.632993C>G	TOPMed
rs199871787	p.Ala196Glu	missense variant	-	NC_000016.10:g.632997C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199871787	p.Ala196Val	missense variant	-	NC_000016.10:g.632997C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1438866620	p.Val197Met	missense variant	-	NC_000016.10:g.632999G>A	gnomAD
rs1241668630	p.Gln198Lys	missense variant	-	NC_000016.10:g.633002C>A	gnomAD
rs773874567	p.Val199Ala	missense variant	-	NC_000016.10:g.633006T>C	ExAC,gnomAD
rs747756333	p.Gly200Glu	missense variant	-	NC_000016.10:g.633009G>A	ExAC,gnomAD
rs1346928367	p.Gly200Arg	missense variant	-	NC_000016.10:g.633008G>C	TOPMed
rs747756333	p.Gly200Val	missense variant	-	NC_000016.10:g.633009G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala203Val	missense variant	-	NC_000016.10:g.633018C>T	NCI-TCGA
rs1420370298	p.Ser204Asn	missense variant	-	NC_000016.10:g.633021G>A	gnomAD
rs1410448199	p.Ser204Arg	missense variant	-	NC_000016.10:g.633022C>A	gnomAD
rs145141720	p.Cys207Ter	stop gained	-	NC_000016.10:g.633031C>A	ESP,ExAC,TOPMed,gnomAD
rs1045502266	p.Cys207Arg	missense variant	-	NC_000016.10:g.633029T>C	TOPMed,gnomAD
rs1353884843	p.Cys207Ser	missense variant	-	NC_000016.10:g.633030G>C	gnomAD
rs776460966	p.Asp208Gly	missense variant	-	NC_000016.10:g.633033A>G	ExAC,TOPMed,gnomAD
rs770735856	p.Asp208Asn	missense variant	-	NC_000016.10:g.633032G>A	ExAC,TOPMed,gnomAD
rs368851660	p.Asp208Glu	missense variant	-	NC_000016.10:g.633034C>A	ESP,ExAC,gnomAD
rs764442657	p.Val209Phe	missense variant	-	NC_000016.10:g.633035G>T	ExAC,TOPMed,gnomAD
rs764442657	p.Val209Ile	missense variant	-	NC_000016.10:g.633035G>A	ExAC,TOPMed,gnomAD
rs1033993145	p.Ser210Asn	missense variant	-	NC_000016.10:g.633039G>A	TOPMed,gnomAD
rs751716442	p.Gly211Ser	missense variant	-	NC_000016.10:g.633041G>A	ExAC,TOPMed,gnomAD
rs761966291	p.Gly211Asp	missense variant	-	NC_000016.10:g.633042G>A	ExAC,gnomAD
rs767633977	p.Arg212Cys	missense variant	-	NC_000016.10:g.633044C>T	ExAC,gnomAD
rs146880296	p.Arg212His	missense variant	-	NC_000016.10:g.633045G>A	ESP,ExAC,TOPMed,gnomAD
rs780681967	p.Pro213Leu	missense variant	-	NC_000016.10:g.633048C>T	ExAC,TOPMed,gnomAD
rs536112903	p.Pro214Arg	missense variant	-	NC_000016.10:g.633051C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs536112903	p.Pro214Leu	missense variant	-	NC_000016.10:g.633051C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs778645385	p.Ala216Val	missense variant	-	NC_000016.10:g.633057C>T	ExAC,gnomAD
rs1427046809	p.Ala216Pro	missense variant	-	NC_000016.10:g.633056G>C	TOPMed,gnomAD
rs747694020	p.Val217Ala	missense variant	-	NC_000016.10:g.633060T>C	ExAC,gnomAD
rs1380157165	p.Thr218Ile	missense variant	-	NC_000016.10:g.633063C>T	gnomAD
rs919250632	p.Trp219Ter	stop gained	-	NC_000016.10:g.633067G>A	gnomAD
rs919250632	p.Trp219Cys	missense variant	-	NC_000016.10:g.633067G>C	gnomAD
rs777217246	p.Trp219Ter	stop gained	-	NC_000016.10:g.633066G>A	ExAC,gnomAD
rs746502397	p.Gln222Arg	missense variant	-	NC_000016.10:g.633075A>G	ExAC,gnomAD
rs930684092	p.Gln222His	missense variant	-	NC_000016.10:g.633076G>T	TOPMed,gnomAD
rs145644880	p.Ser223Thr	missense variant	-	NC_000016.10:g.633078G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1338434863	p.Ser223Arg	missense variant	-	NC_000016.10:g.633077A>C	TOPMed
rs201160815	p.Ser223Arg	missense variant	-	NC_000016.10:g.633079T>A	gnomAD
rs145644880	p.Ser223Asn	missense variant	-	NC_000016.10:g.633078G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201160815	p.Ser223Arg	missense variant	-	NC_000016.10:g.633079T>G	gnomAD
rs1267872551	p.His224Asp	missense variant	-	NC_000016.10:g.633080C>G	gnomAD
rs375372631	p.Arg226Gln	missense variant	-	NC_000016.10:g.633087G>A	ESP,ExAC,TOPMed,gnomAD
rs769417699	p.Arg226Ter	stop gained	-	NC_000016.10:g.633086C>T	ExAC,TOPMed,gnomAD
rs769417699	p.Arg226Gly	missense variant	-	NC_000016.10:g.633086C>G	ExAC,TOPMed,gnomAD
rs375372631	p.Arg226Leu	missense variant	-	NC_000016.10:g.633087G>T	ESP,ExAC,TOPMed,gnomAD
rs1451267134	p.Glu227Gln	missense variant	-	NC_000016.10:g.633089G>C	gnomAD
rs369959131	p.Leu229Pro	missense variant	-	NC_000016.10:g.633096T>C	ESP,ExAC,TOPMed
rs750577342	p.Ile230Val	missense variant	-	NC_000016.10:g.633098A>G	ExAC,TOPMed,gnomAD
rs760834766	p.Ile230Thr	missense variant	-	NC_000016.10:g.633099T>C	ExAC,gnomAD
rs767053633	p.Met231Thr	missense variant	-	NC_000016.10:g.633102T>C	ExAC,gnomAD
rs755378651	p.Arg232His	missense variant	-	NC_000016.10:g.633105G>A	ExAC,TOPMed,gnomAD
rs754244342	p.Arg232Cys	missense variant	-	NC_000016.10:g.633104C>T	ExAC,TOPMed,gnomAD
rs1185777171	p.Pro233Ala	missense variant	-	NC_000016.10:g.633107C>G	TOPMed
rs752418171	p.Gln235His	missense variant	-	NC_000016.10:g.633115G>T	ExAC,gnomAD
rs758097121	p.Met236Ile	missense variant	-	NC_000016.10:g.633118G>A	ExAC,TOPMed,gnomAD
rs1385160670	p.Met236Thr	missense variant	-	NC_000016.10:g.633117T>C	gnomAD
rs1300708116	p.Gly238Ala	missense variant	-	NC_000016.10:g.633123G>C	gnomAD
rs777374847	p.Asn239Lys	missense variant	-	NC_000016.10:g.633127C>A	ExAC,TOPMed
COSM6145235	p.Asn239Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.633127C>G	NCI-TCGA Cosmic
rs1272562414	p.Val241Leu	missense variant	-	NC_000016.10:g.633131G>T	TOPMed
NCI-TCGA novel	p.Val242Ala	missense variant	-	NC_000016.10:g.633135T>C	NCI-TCGA
rs746586513	p.Thr243Ser	missense variant	-	NC_000016.10:g.633138C>G	ExAC,TOPMed,gnomAD
rs896339917	p.Ile245Thr	missense variant	-	NC_000016.10:g.633144T>C	gnomAD
rs770412833	p.Ile245Val	missense variant	-	NC_000016.10:g.633143A>G	ExAC,TOPMed,gnomAD
rs756197830	p.Gly246Arg	missense variant	-	NC_000016.10:g.633146G>A	gnomAD
rs781202432	p.Gly246Glu	missense variant	-	NC_000016.10:g.633147G>A	ExAC,gnomAD
rs780040390	p.Gln247His	missense variant	-	NC_000016.10:g.633151G>C	ExAC,TOPMed,gnomAD
rs569430619	p.Val249Leu	missense variant	-	NC_000016.10:g.633155G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs569430619	p.Val249Leu	missense variant	-	NC_000016.10:g.633155G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs749086535	p.Tyr251Ter	stop gained	-	NC_000016.10:g.633163C>A	ExAC,gnomAD
rs1046564433	p.Tyr251Cys	missense variant	-	NC_000016.10:g.633162A>G	TOPMed,gnomAD
rs760852810	p.Ala253Val	missense variant	-	NC_000016.10:g.633168C>T	ExAC,TOPMed,gnomAD
rs558214896	p.Ala253Thr	missense variant	-	NC_000016.10:g.633167G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs373633253	p.Arg254Gln	missense variant	-	NC_000016.10:g.633171G>A	ESP,ExAC,gnomAD
rs373633253	p.Arg254Pro	missense variant	-	NC_000016.10:g.633171G>C	ESP,ExAC,gnomAD
rs1161349733	p.Arg254Trp	missense variant	-	NC_000016.10:g.633170C>T	TOPMed,gnomAD
rs573223486	p.Glu256Gln	missense variant	-	NC_000016.10:g.633176G>C	1000Genomes,ExAC,gnomAD
rs753045620	p.Glu256Ala	missense variant	-	NC_000016.10:g.633177A>C	ExAC,TOPMed,gnomAD
rs573223486	p.Glu256Lys	missense variant	-	NC_000016.10:g.633176G>A	1000Genomes,ExAC,gnomAD
rs1393678787	p.Asp257Gly	missense variant	-	NC_000016.10:g.633180A>G	gnomAD
rs1382575055	p.Ala258Thr	missense variant	-	NC_000016.10:g.633182G>A	gnomAD
rs751150830	p.Gly259Ser	missense variant	-	NC_000016.10:g.633185G>A	ExAC,TOPMed,gnomAD
rs1377206728	p.Gly259Asp	missense variant	-	NC_000016.10:g.633186G>A	gnomAD
rs780523153	p.Tyr261Cys	missense variant	-	NC_000016.10:g.633192A>G	ExAC,gnomAD
rs745839828	p.Thr262Asn	missense variant	-	NC_000016.10:g.633195C>A	ExAC,TOPMed,gnomAD
rs745839828	p.Thr262Ile	missense variant	-	NC_000016.10:g.633195C>T	ExAC,TOPMed,gnomAD
rs1479598189	p.Cys263Trp	missense variant	-	NC_000016.10:g.633199C>G	gnomAD
rs1306489371	p.Cys263Ser	missense variant	-	NC_000016.10:g.633197T>A	gnomAD
rs1011697016	p.Thr264Ser	missense variant	-	NC_000016.10:g.633201C>G	TOPMed
NCI-TCGA novel	p.Thr264Ile	missense variant	-	NC_000016.10:g.633201C>T	NCI-TCGA
rs534050552	p.Ala265Ser	missense variant	-	NC_000016.10:g.633203G>T	1000Genomes,ExAC,gnomAD
rs189663636	p.Ala265Val	missense variant	-	NC_000016.10:g.633204C>T	1000Genomes,TOPMed,gnomAD
rs534050552	p.Ala265Thr	missense variant	-	NC_000016.10:g.633203G>A	1000Genomes,ExAC,gnomAD
rs747194591	p.Arg266Cys	missense variant	-	NC_000016.10:g.633206C>T	ExAC,gnomAD
rs771069827	p.Arg266His	missense variant	-	NC_000016.10:g.633207G>A	ExAC,TOPMed,gnomAD
rs776626760	p.Asn267Asp	missense variant	-	NC_000016.10:g.633209A>G	ExAC,gnomAD
rs765734403	p.Ala268Thr	missense variant	-	NC_000016.10:g.633212G>A	ExAC,gnomAD
rs972285267	p.Ala269Pro	missense variant	-	NC_000016.10:g.633215G>C	TOPMed,gnomAD
rs972285267	p.Ala269Thr	missense variant	-	NC_000016.10:g.633215G>A	TOPMed,gnomAD
rs776050398	p.Gly270Arg	missense variant	-	NC_000016.10:g.633218G>C	ExAC,gnomAD
rs1339125951	p.Leu272Pro	missense variant	-	NC_000016.10:g.633225T>C	TOPMed,gnomAD
rs1381902003	p.Arg273Gln	missense variant	-	NC_000016.10:g.633228G>A	TOPMed,gnomAD
rs1383744970	p.Arg273Gly	missense variant	-	NC_000016.10:g.633227C>G	gnomAD
rs1342694696	p.Leu278Phe	missense variant	-	NC_000016.10:g.633242C>T	gnomAD
rs1473715397	p.Ser279Ala	missense variant	-	NC_000016.10:g.633245T>G	TOPMed
rs997406859	p.Val281Ile	missense variant	-	NC_000016.10:g.633251G>A	TOPMed,gnomAD
rs1251754075	p.Gln282Ter	stop gained	-	NC_000016.10:g.633254C>T	gnomAD
rs751240346	p.Arg283Ter	stop gained	-	NC_000016.10:g.633257C>T	ExAC,TOPMed,gnomAD
rs767176403	p.Arg283Gln	missense variant	-	NC_000016.10:g.633258G>A	ExAC,gnomAD
rs751240346	p.Arg283Gly	missense variant	-	NC_000016.10:g.633257C>G	ExAC,TOPMed,gnomAD
rs1461465556	p.Glu284Gln	missense variant	-	NC_000016.10:g.633260G>C	gnomAD
rs1185624952	p.Pro285Leu	missense variant	-	NC_000016.10:g.633264C>T	TOPMed,gnomAD
rs930617030	p.Arg287Lys	missense variant	-	NC_000016.10:g.633270G>A	TOPMed,gnomAD
rs930617030	p.Arg287Thr	missense variant	-	NC_000016.10:g.633270G>C	TOPMed,gnomAD
rs1429704108	p.Arg287Gly	missense variant	-	NC_000016.10:g.633269A>G	gnomAD
rs1016802547	p.Ala289Thr	missense variant	-	NC_000016.10:g.633275G>A	TOPMed,gnomAD
rs779870889	p.Ala290Asp	missense variant	-	NC_000016.10:g.633279C>A	ExAC,TOPMed,gnomAD
rs779870889	p.Ala290Val	missense variant	-	NC_000016.10:g.633279C>T	ExAC,TOPMed,gnomAD
rs754851833	p.Pro291Arg	missense variant	-	NC_000016.10:g.633282C>G	ExAC,TOPMed,gnomAD
rs753762927	p.Pro291Ser	missense variant	-	NC_000016.10:g.633281C>T	ExAC,gnomAD
rs778801563	p.Ser292Gly	missense variant	-	NC_000016.10:g.633284A>G	ExAC,gnomAD
rs1382792207	p.Ser292Thr	missense variant	-	NC_000016.10:g.633285G>C	gnomAD
rs1382792207	p.Ser292Asn	missense variant	-	NC_000016.10:g.633285G>A	gnomAD
rs1382792207	p.Ser292Ile	missense variant	-	NC_000016.10:g.633285G>T	gnomAD
rs771102109	p.Pro294Ala	missense variant	-	NC_000016.10:g.633290C>G	ExAC,gnomAD
rs771102109	p.Pro294Ser	missense variant	-	NC_000016.10:g.633290C>T	ExAC,gnomAD
rs919264022	p.Ala295Pro	missense variant	-	NC_000016.10:g.633293G>C	TOPMed,gnomAD
rs371241390	p.Pro296Leu	missense variant	-	NC_000016.10:g.633297C>T	ESP,ExAC,TOPMed,gnomAD
rs371241390	p.Pro296Gln	missense variant	-	NC_000016.10:g.633297C>A	ESP,ExAC,TOPMed,gnomAD
rs769026528	p.Ala297Val	missense variant	-	NC_000016.10:g.633300C>T	ExAC,gnomAD
rs769026528	p.Ala297Asp	missense variant	-	NC_000016.10:g.633300C>A	ExAC,gnomAD
rs573708114	p.Glu298Gln	missense variant	-	NC_000016.10:g.633302G>C	1000Genomes,gnomAD
rs573708114	p.Glu298Lys	missense variant	-	NC_000016.10:g.633302G>A	1000Genomes,gnomAD
rs777490530	p.Pro301Leu	missense variant	-	NC_000016.10:g.633312C>T	ExAC,TOPMed,gnomAD
rs777490530	p.Pro301Arg	missense variant	-	NC_000016.10:g.633312C>G	ExAC,TOPMed,gnomAD
rs1386737348	p.Pro301Ser	missense variant	-	NC_000016.10:g.633311C>T	TOPMed
rs1432553540	p.Val303Gly	missense variant	-	NC_000016.10:g.633318T>G	TOPMed
rs1157394072	p.Gln304Ter	stop gained	-	NC_000016.10:g.633320C>T	gnomAD
rs544094050	p.Ala305Asp	missense variant	-	NC_000016.10:g.633324C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs544094050	p.Ala305Val	missense variant	-	NC_000016.10:g.633324C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs778966841	p.Cys306Arg	missense variant	-	NC_000016.10:g.633326T>C	ExAC,gnomAD
rs1267251179	p.Cys306Tyr	missense variant	-	NC_000016.10:g.633327G>A	TOPMed
rs562689249	p.Thr307Met	missense variant	-	NC_000016.10:g.633330C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201425753	p.Gly308Asp	missense variant	-	NC_000016.10:g.633333G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1368226062	p.Pro309Leu	missense variant	-	NC_000016.10:g.633336C>T	TOPMed,gnomAD
rs377585241	p.Pro309Ser	missense variant	-	NC_000016.10:g.633335C>T	ESP,ExAC,gnomAD
rs1331050608	p.Thr310Ile	missense variant	-	NC_000016.10:g.633339C>T	TOPMed
rs769791088	p.Ser311Tyr	missense variant	-	NC_000016.10:g.633342C>A	ExAC,TOPMed,gnomAD
rs769791088	p.Ser311Phe	missense variant	-	NC_000016.10:g.633342C>T	ExAC,TOPMed,gnomAD
rs1318315460	p.Pro312Ser	missense variant	-	NC_000016.10:g.633344C>T	TOPMed,gnomAD
rs749348107	p.Pro312Gln	missense variant	-	NC_000016.10:g.633345C>A	ExAC,TOPMed,gnomAD
rs1170916752	p.His313Tyr	missense variant	-	NC_000016.10:g.633347C>T	TOPMed
rs772416822	p.Leu316His	missense variant	-	NC_000016.10:g.633357T>A	ExAC,gnomAD
rs762140596	p.Leu316Phe	missense variant	-	NC_000016.10:g.633356C>T	ExAC,gnomAD
rs1190505459	p.Trp317Arg	missense variant	-	NC_000016.10:g.633359T>C	TOPMed
rs1175809029	p.His318Tyr	missense variant	-	NC_000016.10:g.633362C>T	gnomAD
rs1419875009	p.Asp320His	missense variant	-	NC_000016.10:g.633368G>C	gnomAD
rs766108080	p.Pro321Leu	missense variant	-	NC_000016.10:g.633372C>T	ExAC,TOPMed,gnomAD
rs374981998	p.Gln322His	missense variant	-	NC_000016.10:g.633376G>T	ESP,ExAC,TOPMed,gnomAD
rs753443079	p.Gln322Ter	stop gained	-	NC_000016.10:g.633374C>T	ExAC,gnomAD
rs1441439422	p.Arg323Gln	missense variant	-	NC_000016.10:g.633378G>A	gnomAD
rs1350354172	p.Arg323Trp	missense variant	-	NC_000016.10:g.633377C>T	gnomAD
rs972218126	p.Gly324Asp	missense variant	-	NC_000016.10:g.633381G>A	gnomAD
rs752626044	p.Gly324Ser	missense variant	-	NC_000016.10:g.633380G>A	ExAC,TOPMed,gnomAD
rs1356842902	p.Gly325Ser	missense variant	-	NC_000016.10:g.633383G>A	TOPMed,gnomAD
rs1317496216	p.Met327Lys	missense variant	-	NC_000016.10:g.633390T>A	TOPMed,gnomAD
rs1317496216	p.Met327Thr	missense variant	-	NC_000016.10:g.633390T>C	TOPMed,gnomAD
rs1247473493	p.Thr328Ser	missense variant	-	NC_000016.10:g.633393C>G	gnomAD
rs199689725	p.Pro330Leu	missense variant	-	NC_000016.10:g.633399C>T	ExAC,TOPMed,gnomAD
rs1340619026	p.Pro330Ala	missense variant	-	NC_000016.10:g.633398C>G	TOPMed
rs750629032	p.Ala331Val	missense variant	-	NC_000016.10:g.633402C>T	ExAC,TOPMed,gnomAD
rs1458547741	p.Arg332His	missense variant	-	NC_000016.10:g.633405G>A	gnomAD
rs756404188	p.Arg332Cys	missense variant	-	NC_000016.10:g.633404C>T	ExAC,TOPMed,gnomAD
rs756404188	p.Arg332Ser	missense variant	-	NC_000016.10:g.633404C>A	ExAC,TOPMed,gnomAD
rs780217966	p.Gly333Cys	missense variant	-	NC_000016.10:g.633407G>T	ExAC,gnomAD
rs758376256	p.CysAsp334Ter	stop gained	-	NC_000016.10:g.633412_633413del	ExAC,TOPMed,gnomAD
rs1446702643	p.Gly336Arg	missense variant	-	NC_000016.10:g.633416G>A	gnomAD
rs1427781828	p.Ala338Pro	missense variant	-	NC_000016.10:g.633422G>C	TOPMed
rs755035873	p.Arg339Gly	missense variant	-	NC_000016.10:g.633425C>G	ExAC,TOPMed,gnomAD
rs888953321	p.Arg339His	missense variant	-	NC_000016.10:g.633426G>A	TOPMed,gnomAD
rs755035873	p.Arg339Cys	missense variant	-	NC_000016.10:g.633425C>T	ExAC,TOPMed,gnomAD
rs755035873	p.Arg339Ser	missense variant	-	NC_000016.10:g.633425C>A	ExAC,TOPMed,gnomAD
rs938048030	p.Gly340Ser	missense variant	-	NC_000016.10:g.633428G>A	TOPMed,gnomAD
rs1380072980	p.Glu342Asp	missense variant	-	NC_000016.10:g.633436G>C	gnomAD
rs772346726	p.Glu342Lys	missense variant	-	NC_000016.10:g.633434G>A	ExAC,TOPMed
rs770778011	p.Glu345Lys	missense variant	-	NC_000016.10:g.633443G>A	ExAC,TOPMed,gnomAD
rs776412951	p.Ala346Thr	missense variant	-	NC_000016.10:g.633446G>A	ExAC,TOPMed,gnomAD
COSM4062124	p.Ala346Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.633446G>T	NCI-TCGA Cosmic
rs1213322875	p.Cys347Arg	missense variant	-	NC_000016.10:g.633449T>C	gnomAD
rs759132631	p.Gln349Ter	stop gained	-	NC_000016.10:g.633455C>T	ExAC,TOPMed,gnomAD
rs775317491	p.Ala350Thr	missense variant	-	NC_000016.10:g.633458G>A	ExAC,TOPMed,gnomAD
rs1462806299	p.Cys351Arg	missense variant	-	NC_000016.10:g.633461T>C	gnomAD
rs751410634	p.Arg353His	missense variant	-	NC_000016.10:g.633468G>A	ExAC,TOPMed,gnomAD
rs763911373	p.Arg353Cys	missense variant	-	NC_000016.10:g.633467C>T	ExAC,TOPMed,gnomAD
rs1466107054	p.Gly354Asp	missense variant	-	NC_000016.10:g.633471G>A	gnomAD
rs766644116	p.Gly354Ser	missense variant	-	NC_000016.10:g.633470G>A	ExAC,gnomAD
rs1470746224	p.Gly356Ser	missense variant	-	NC_000016.10:g.633476G>A	TOPMed,gnomAD
rs778916519	p.Gly356Asp	missense variant	-	NC_000016.10:g.633477G>A	ExAC,gnomAD
rs758984490	p.Asp357Asn	missense variant	-	NC_000016.10:g.633479G>A	ExAC,TOPMed,gnomAD
rs747468855	p.Ala358Pro	missense variant	-	NC_000016.10:g.633482G>C	ExAC,TOPMed,gnomAD
rs747468855	p.Ala358Thr	missense variant	-	NC_000016.10:g.633482G>A	ExAC,TOPMed,gnomAD
rs531380350	p.Val360Met	missense variant	-	NC_000016.10:g.633488G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1326180881	p.Leu361Val	missense variant	-	NC_000016.10:g.633491C>G	gnomAD
rs1201392892	p.Pro362Arg	missense variant	-	NC_000016.10:g.633495C>G	gnomAD
rs1298568015	p.Ala363Pro	missense variant	-	NC_000016.10:g.633497G>C	gnomAD
rs745474912	p.Val364Leu	missense variant	-	NC_000016.10:g.633500G>T	ExAC,TOPMed,gnomAD
rs745474912	p.Val364Met	missense variant	-	NC_000016.10:g.633500G>A	ExAC,TOPMed,gnomAD
rs1217994412	p.Gly366Asp	missense variant	-	NC_000016.10:g.633507G>A	gnomAD
rs1288216222	p.Pro367Leu	missense variant	-	NC_000016.10:g.633510C>T	TOPMed
rs1209571796	p.Cys368Tyr	missense variant	-	NC_000016.10:g.633513G>A	TOPMed
rs1040764831	p.Arg369Gln	missense variant	-	NC_000016.10:g.633516G>A	TOPMed,gnomAD
rs375549368	p.Arg369Trp	missense variant	-	NC_000016.10:g.633515C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs933028005	p.Gly370Ala	missense variant	-	NC_000016.10:g.633519G>C	TOPMed
rs896927364	p.Trp371Arg	missense variant	-	NC_000016.10:g.633521T>C	TOPMed
rs1426941663	p.Trp371Ter	stop gained	-	NC_000016.10:g.633522G>A	gnomAD
rs1478850658	p.Glu372Ter	stop gained	-	NC_000016.10:g.633524G>T	gnomAD
rs569482474	p.Pro373Gln	missense variant	-	NC_000016.10:g.633528C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs569482474	p.Pro373Leu	missense variant	-	NC_000016.10:g.633528C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs540140699	p.Arg374Cys	missense variant	-	NC_000016.10:g.633530C>T	1000Genomes,ExAC,gnomAD
rs1319688510	p.Arg374His	missense variant	-	NC_000016.10:g.633531G>A	gnomAD
rs1360672574	p.Tyr377Cys	missense variant	-	NC_000016.10:g.633540A>G	gnomAD
rs1404874060	p.Tyr377Ter	stop gained	-	NC_000016.10:g.633541C>G	gnomAD
rs952246918	p.Ser378Gly	missense variant	-	NC_000016.10:g.633542A>G	TOPMed,gnomAD
rs551656103	p.Pro379Ser	missense variant	-	NC_000016.10:g.633545C>T	1000Genomes,gnomAD
rs566727225	p.Pro379Leu	missense variant	-	NC_000016.10:g.633546C>T	1000Genomes,ExAC,TOPMed
rs1225736474	p.Cys384Tyr	missense variant	-	NC_000016.10:g.633561G>A	gnomAD
rs1490227520	p.His385Gln	missense variant	-	NC_000016.10:g.633565T>G	gnomAD
rs1286813892	p.His385Tyr	missense variant	-	NC_000016.10:g.633563C>T	gnomAD
rs767230961	p.Pro386Leu	missense variant	-	NC_000016.10:g.633567C>T	ExAC,gnomAD
rs754083591	p.Phe387Leu	missense variant	-	NC_000016.10:g.633571C>A	ExAC,TOPMed,gnomAD
rs1244099850	p.Val388Met	missense variant	-	NC_000016.10:g.633572G>A	TOPMed,gnomAD
rs1453284230	p.Val388Ala	missense variant	-	NC_000016.10:g.633573T>C	TOPMed,gnomAD
rs765346881	p.Gly390Arg	missense variant	-	NC_000016.10:g.633578G>C	ExAC,gnomAD
rs765346881	p.Gly390Ser	missense variant	-	NC_000016.10:g.633578G>A	ExAC,gnomAD
rs1479306014	p.Cys392Tyr	missense variant	-	NC_000016.10:g.633585G>A	TOPMed
rs372514202	p.Glu393Gln	missense variant	-	NC_000016.10:g.633587G>C	ESP,ExAC,TOPMed,gnomAD
rs372514202	p.Glu393Lys	missense variant	-	NC_000016.10:g.633587G>A	ESP,ExAC,TOPMed,gnomAD
rs778359474	p.Gly394Asp	missense variant	-	NC_000016.10:g.633591G>A	ExAC,gnomAD
rs1380532903	p.Gly394Ser	missense variant	-	NC_000016.10:g.633590G>A	gnomAD
rs751947744	p.Asn395Lys	missense variant	-	NC_000016.10:g.633595C>A	ExAC,TOPMed,gnomAD
rs757725451	p.Gly396Ser	missense variant	-	NC_000016.10:g.633596G>A	ExAC,TOPMed,gnomAD
rs781647041	p.Gly396Asp	missense variant	-	NC_000016.10:g.633597G>A	ExAC,TOPMed,gnomAD
rs567320565	p.Asn398Lys	missense variant	-	NC_000016.10:g.633604C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs567320565	p.Asn398Lys	missense variant	-	NC_000016.10:g.633604C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1241449989	p.Phe399Leu	missense variant	-	NC_000016.10:g.633607C>A	gnomAD
rs1310182043	p.His400Pro	missense variant	-	NC_000016.10:g.633609A>C	gnomAD
rs1243812328	p.Arg402Leu	missense variant	-	NC_000016.10:g.633615G>T	TOPMed,gnomAD
rs537883613	p.Arg402Cys	missense variant	-	NC_000016.10:g.633614C>T	1000Genomes,ExAC
rs1243812328	p.Arg402His	missense variant	-	NC_000016.10:g.633615G>A	TOPMed,gnomAD
rs748887303	p.Glu403Lys	missense variant	-	NC_000016.10:g.633617G>A	ExAC,TOPMed,gnomAD
rs1210414250	p.Ser404Asn	missense variant	-	NC_000016.10:g.633621G>A	gnomAD
rs767991257	p.Ser404Arg	missense variant	-	NC_000016.10:g.633622C>A	ExAC,gnomAD
rs774348196	p.Cys405Tyr	missense variant	-	NC_000016.10:g.633624G>A	ExAC,gnomAD
rs774889768	p.Cys405Ter	stop gained	-	NC_000016.10:g.633625C>A	ExAC,TOPMed,gnomAD
rs773031156	p.Glu406Lys	missense variant	-	NC_000016.10:g.633626G>A	ExAC,TOPMed,gnomAD
rs1003578086	p.Val411Leu	missense variant	-	NC_000016.10:g.633641G>C	TOPMed,gnomAD
rs1003578086	p.Val411Met	missense variant	-	NC_000016.10:g.633641G>A	TOPMed,gnomAD
rs1458855344	p.Pro412Leu	missense variant	-	NC_000016.10:g.633645C>T	TOPMed,gnomAD
rs752131312	p.Arg413His	missense variant	-	NC_000016.10:g.633648G>A	ExAC,TOPMed,gnomAD
rs763100479	p.Arg413Cys	missense variant	-	NC_000016.10:g.633647C>T	ExAC,gnomAD
rs763100479	p.Arg413Gly	missense variant	-	NC_000016.10:g.633647C>G	ExAC,gnomAD
rs943693707	p.Pro415Ser	missense variant	-	NC_000016.10:g.633653C>T	gnomAD
rs781753173	p.Pro415Leu	missense variant	-	NC_000016.10:g.633654C>T	ExAC,TOPMed,gnomAD
rs1226790193	p.Cys417Tyr	missense variant	-	NC_000016.10:g.633660G>A	gnomAD
rs1226790193	p.Cys417Ser	missense variant	-	NC_000016.10:g.633660G>C	gnomAD
rs750881697	p.Arg418Gly	missense variant	-	NC_000016.10:g.633662C>G	ExAC,TOPMed,gnomAD
rs750881697	p.Arg418Cys	missense variant	-	NC_000016.10:g.633662C>T	ExAC,TOPMed,gnomAD
rs750881697	p.Arg418Ser	missense variant	-	NC_000016.10:g.633662C>A	ExAC,TOPMed,gnomAD
rs756420931	p.Arg418His	missense variant	-	NC_000016.10:g.633663G>A	ExAC,gnomAD
rs545289227	p.Ala419Thr	missense variant	-	NC_000016.10:g.633665G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs545289227	p.Ala419Ser	missense variant	-	NC_000016.10:g.633665G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1181432070	p.Cys420Ser	missense variant	-	NC_000016.10:g.633669G>C	TOPMed,gnomAD
rs778336555	p.Arg421Cys	missense variant	-	NC_000016.10:g.633671C>T	ExAC,TOPMed,gnomAD
rs374840117	p.Arg421His	missense variant	-	NC_000016.10:g.633672G>A	ESP,ExAC,TOPMed,gnomAD
rs778336555	p.Arg421Ser	missense variant	-	NC_000016.10:g.633671C>A	ExAC,TOPMed,gnomAD
rs1358124528	p.Leu422Phe	missense variant	-	NC_000016.10:g.633674C>T	TOPMed
rs200981073	p.Arg423Trp	missense variant	-	NC_000016.10:g.633677C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1171800983	p.Lys425Asn	missense variant	-	NC_000016.10:g.633685G>C	TOPMed,gnomAD
rs1405880421	p.Leu426Val	missense variant	-	NC_000016.10:g.633686C>G	gnomAD
rs1468423471	p.Leu426Arg	missense variant	-	NC_000016.10:g.633687T>G	gnomAD
rs770568426	p.Ala427Val	missense variant	-	NC_000016.10:g.633690C>T	ExAC
rs1381667184	p.Ser429Gly	missense variant	-	NC_000016.10:g.633695A>G	gnomAD
rs763034270	p.Ser429Arg	missense variant	-	NC_000016.10:g.633697C>A	ExAC,TOPMed,gnomAD
rs761975795	p.Arg432His	missense variant	-	NC_000016.10:g.633705G>A	ExAC,gnomAD
rs774608339	p.Arg432Cys	missense variant	-	NC_000016.10:g.633704C>T	ExAC,gnomAD
rs1322632195	p.Ser433Asn	missense variant	-	NC_000016.10:g.633708G>A	TOPMed,gnomAD
rs768196337	p.Asp434Asn	missense variant	-	NC_000016.10:g.633710G>A	ExAC,gnomAD
rs1292603263	p.Ala436Thr	missense variant	-	NC_000016.10:g.633716G>A	-
rs376775633	p.Val438Ala	missense variant	-	NC_000016.10:g.633723T>C	ESP,ExAC,TOPMed,gnomAD
rs572309026	p.Val438Met	missense variant	-	NC_000016.10:g.633722G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs572309026	p.Val438Leu	missense variant	-	NC_000016.10:g.633722G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs866967066	p.Gly439Arg	missense variant	-	NC_000016.10:g.633725G>C	TOPMed
rs866967066	p.Gly439Trp	missense variant	-	NC_000016.10:g.633725G>T	TOPMed
rs747716027	p.Arg440Trp	missense variant	-	NC_000016.10:g.633728C>T	ExAC,TOPMed,gnomAD
rs929161621	p.Arg440Gln	missense variant	-	NC_000016.10:g.633729G>A	TOPMed
rs1429201336	p.Leu441Phe	missense variant	-	NC_000016.10:g.633731C>T	gnomAD
rs1461906568	p.Thr442Met	missense variant	-	NC_000016.10:g.633735C>T	TOPMed
rs1047833586	p.Glu443Ter	stop gained	-	NC_000016.10:g.633737G>T	TOPMed
rs1183001923	p.Glu447Gly	missense variant	-	NC_000016.10:g.633750A>G	TOPMed
rs1287168473	p.Pro448His	missense variant	-	NC_000016.10:g.633753C>A	TOPMed,gnomAD
rs770785722	p.Pro448Ser	missense variant	-	NC_000016.10:g.633752C>T	ExAC,gnomAD
rs1287168473	p.Pro448Arg	missense variant	-	NC_000016.10:g.633753C>G	TOPMed,gnomAD
rs745641747	p.Glu449Asp	missense variant	-	NC_000016.10:g.633757G>C	ExAC,TOPMed,gnomAD
rs531316698	p.Ala451Pro	missense variant	-	NC_000016.10:g.633761G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs531316698	p.Ala451Thr	missense variant	-	NC_000016.10:g.633761G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs761997933	p.Gly452Cys	missense variant	-	NC_000016.10:g.633764G>T	ExAC,TOPMed,gnomAD
rs761997933	p.Gly452Ser	missense variant	-	NC_000016.10:g.633764G>A	ExAC,TOPMed,gnomAD
rs761037038	p.Gly453Ser	missense variant	-	NC_000016.10:g.633767G>A	ExAC,TOPMed,gnomAD
rs1229850753	p.Gly453Asp	missense variant	-	NC_000016.10:g.633768G>A	TOPMed
rs1283252396	p.Ile454Asn	missense variant	-	NC_000016.10:g.633771T>A	gnomAD
rs754225608	p.Ala455Val	missense variant	-	NC_000016.10:g.633774C>T	ExAC,TOPMed,gnomAD
rs978169443	p.Ala455Thr	missense variant	-	NC_000016.10:g.633773G>A	gnomAD
rs764887078	p.Arg456His	missense variant	-	NC_000016.10:g.633777G>A	ExAC,TOPMed,gnomAD
rs755357985	p.Arg456Cys	missense variant	-	NC_000016.10:g.633776C>T	ExAC,gnomAD
rs752283984	p.Val457Met	missense variant	-	NC_000016.10:g.633779G>A	ExAC,gnomAD
rs777219214	p.Ala458Glu	missense variant	-	NC_000016.10:g.633783C>A	ExAC,TOPMed,gnomAD
rs925362090	p.Ala458Ser	missense variant	-	NC_000016.10:g.633782G>T	TOPMed,gnomAD
rs777219214	p.Ala458Val	missense variant	-	NC_000016.10:g.633783C>T	ExAC,TOPMed,gnomAD
rs925362090	p.Ala458Thr	missense variant	-	NC_000016.10:g.633782G>A	TOPMed,gnomAD
rs925362090	p.Ala458Pro	missense variant	-	NC_000016.10:g.633782G>C	TOPMed,gnomAD
rs781180224	p.Leu459Val	missense variant	-	NC_000016.10:g.633785C>G	ExAC,gnomAD
rs1483364756	p.Glu460Lys	missense variant	-	NC_000016.10:g.633788G>A	TOPMed,gnomAD
rs911081394	p.Asp461Glu	missense variant	-	NC_000016.10:g.633793C>G	TOPMed,gnomAD
rs533413955	p.Asp461Asn	missense variant	-	NC_000016.10:g.633791G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val462Met	missense variant	-	NC_000016.10:g.633794G>A	NCI-TCGA
rs1295053894	p.Leu463Phe	missense variant	-	NC_000016.10:g.633797C>T	gnomAD
rs1210260061	p.Asp465Asn	missense variant	-	NC_000016.10:g.633803G>A	TOPMed
rs748341020	p.Lys467Glu	missense variant	-	NC_000016.10:g.633809A>G	ExAC,TOPMed,gnomAD
rs1040998898	p.Met468Thr	missense variant	-	NC_000016.10:g.633813T>C	TOPMed,gnomAD
rs772300719	p.Met468Ile	missense variant	-	NC_000016.10:g.633814G>T	ExAC,TOPMed,gnomAD
rs202136863	p.Leu470Phe	missense variant	-	NC_000016.10:g.633818C>T	1000Genomes,ExAC,gnomAD
rs202136863	p.Leu470Val	missense variant	-	NC_000016.10:g.633818C>G	1000Genomes,ExAC,gnomAD
rs973723994	p.Phe472Leu	missense variant	-	NC_000016.10:g.633826C>G	TOPMed,gnomAD
rs1224503947	p.Phe472Leu	missense variant	-	NC_000016.10:g.633824T>C	gnomAD
rs760804546	p.Gly474Cys	missense variant	-	NC_000016.10:g.633830G>T	ExAC,gnomAD
rs760804546	p.Gly474Arg	missense variant	-	NC_000016.10:g.633830G>C	ExAC,gnomAD
rs929215562	p.Thr475Ser	missense variant	-	NC_000016.10:g.633833A>T	TOPMed,gnomAD
rs1440586435	p.Lys476Arg	missense variant	-	NC_000016.10:g.633837A>G	TOPMed,gnomAD
rs771402329	p.Lys476Asn	missense variant	-	NC_000016.10:g.633838G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys476Glu	missense variant	-	NC_000016.10:g.633836A>G	NCI-TCGA
rs1166744735	p.Leu478Pro	missense variant	-	NC_000016.10:g.633843T>C	gnomAD
NCI-TCGA novel	p.Glu479Lys	missense variant	-	NC_000016.10:g.633845G>A	NCI-TCGA
rs148108779	p.Thr481Met	missense variant	-	NC_000016.10:g.633852C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs752373758	p.Leu482Arg	missense variant	-	NC_000016.10:g.633855T>G	ExAC
rs200601222	p.Ser483Arg	missense variant	-	NC_000016.10:g.633857A>C	1000Genomes,ExAC,gnomAD
rs567457672	p.Met485Ile	missense variant	-	NC_000016.10:g.633865G>T	1000Genomes,ExAC,gnomAD
rs567457672	p.Met485Ile	missense variant	-	NC_000016.10:g.633865G>C	1000Genomes,ExAC,gnomAD
rs1376424135	p.Asp486Glu	missense variant	-	NC_000016.10:g.633868C>A	gnomAD
rs1229544971	p.Trp487Cys	missense variant	-	NC_000016.10:g.633871G>C	gnomAD
rs1291148591	p.Ala488Val	missense variant	-	NC_000016.10:g.633873C>T	gnomAD
rs939387333	p.Ala488Thr	missense variant	-	NC_000016.10:g.633872G>A	TOPMed
rs781003010	p.Pro490Thr	missense variant	-	NC_000016.10:g.633878C>A	ExAC,TOPMed,gnomAD
rs1463285963	p.Cys491Ter	stop gained	-	NC_000016.10:g.633883C>A	TOPMed
rs1458368305	p.Pro492Leu	missense variant	-	NC_000016.10:g.633885C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Pro492Ser	missense variant	-	NC_000016.10:g.633884C>T	NCI-TCGA
rs750306090	p.Asn493Lys	missense variant	-	NC_000016.10:g.633889C>A	ExAC,TOPMed,gnomAD
rs756002145	p.Thr495Met	missense variant	-	NC_000016.10:g.633894C>T	ExAC,TOPMed,gnomAD
rs1182540279	p.Ala496Thr	missense variant	-	NC_000016.10:g.633896G>A	TOPMed,gnomAD
rs865824247	p.Ala496Glu	missense variant	-	NC_000016.10:g.633897C>A	gnomAD
rs865824247	p.Ala496Val	missense variant	-	NC_000016.10:g.633897C>T	gnomAD
rs1168242962	p.Gly497Ser	missense variant	-	NC_000016.10:g.633899G>A	TOPMed,gnomAD
rs778042658	p.Asp498Asn	missense variant	-	NC_000016.10:g.633902G>A	ExAC,TOPMed,gnomAD
rs747075183	p.Asp498Val	missense variant	-	NC_000016.10:g.633903A>T	ExAC,gnomAD
rs759991504	p.Gly499Glu	missense variant	-	NC_000016.10:g.633906G>A	ExAC,gnomAD
rs150348691	p.Gly499Arg	missense variant	-	NC_000016.10:g.633905G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138055478	p.Pro500Leu	missense variant	-	NC_000016.10:g.633909C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763295932	p.Val502Ile	missense variant	-	NC_000016.10:g.633914G>A	ExAC,gnomAD
rs763791367	p.Val502Asp	missense variant	-	NC_000016.10:g.633915T>A	ExAC,gnomAD
rs1434060660	p.Ile503Met	missense variant	-	NC_000016.10:g.633919C>G	TOPMed
rs1203443780	p.Ile503Val	missense variant	-	NC_000016.10:g.633917A>G	gnomAD
rs1276703731	p.Met504Thr	missense variant	-	NC_000016.10:g.633921T>C	gnomAD
rs1447547849	p.Val507Leu	missense variant	-	NC_000016.10:g.633929G>C	gnomAD
rs751163318	p.Val507Ala	missense variant	-	NC_000016.10:g.633930T>C	ExAC,gnomAD
rs201006114	p.Arg508Cys	missense variant	-	NC_000016.10:g.633932C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143797074	p.Arg508Pro	missense variant	-	NC_000016.10:g.633933G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143797074	p.Arg508His	missense variant	-	NC_000016.10:g.633933G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370450280	p.Asp509Asn	missense variant	-	NC_000016.10:g.633935G>A	ESP,ExAC,TOPMed,gnomAD
rs370450280	p.Asp509His	missense variant	-	NC_000016.10:g.633935G>C	ESP,ExAC,TOPMed,gnomAD
rs756168741	p.Gly510Asp	missense variant	-	NC_000016.10:g.633939G>A	ExAC,TOPMed,gnomAD
rs572246113	p.Val511Met	missense variant	-	NC_000016.10:g.633941G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs572246113	p.Val511Leu	missense variant	-	NC_000016.10:g.633941G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs747217977	p.Val513Met	missense variant	-	NC_000016.10:g.633947G>A	ExAC,TOPMed,gnomAD
rs1269957910	p.Asp515Val	missense variant	-	NC_000016.10:g.633954A>T	TOPMed
rs1344154639	p.Ala516Gly	missense variant	-	NC_000016.10:g.633957C>G	gnomAD
rs770940609	p.Ala516Thr	missense variant	-	NC_000016.10:g.633956G>A	ExAC,TOPMed,gnomAD
rs149512324	p.Gly517Ser	missense variant	-	NC_000016.10:g.633959G>A	ESP,ExAC,TOPMed,gnomAD
rs770349267	p.Gly517Asp	missense variant	-	NC_000016.10:g.633960G>A	ExAC,gnomAD
rs149512324	p.Gly517Cys	missense variant	-	NC_000016.10:g.633959G>T	ESP,ExAC,TOPMed,gnomAD
rs374492045	p.Tyr519Ter	stop gained	-	NC_000016.10:g.633967C>G	ESP,ExAC,TOPMed,gnomAD
rs1347368501	p.Val520Asp	missense variant	-	NC_000016.10:g.633969T>A	gnomAD
rs377538077	p.Val520Leu	missense variant	-	NC_000016.10:g.633968G>C	ESP,ExAC,TOPMed,gnomAD
rs377538077	p.Val520Ile	missense variant	-	NC_000016.10:g.633968G>A	ESP,ExAC,TOPMed,gnomAD
rs1283644595	p.Arg521His	missense variant	-	NC_000016.10:g.633972G>A	TOPMed,gnomAD
rs761476941	p.Arg521Cys	missense variant	-	NC_000016.10:g.633971C>T	ExAC,gnomAD
rs542877970	p.Ala522Thr	missense variant	-	NC_000016.10:g.633974G>A	1000Genomes,ExAC,gnomAD
rs760249916	p.Ala523Thr	missense variant	-	NC_000016.10:g.633977G>A	ExAC,TOPMed,gnomAD
rs1197866710	p.Ser524Arg	missense variant	-	NC_000016.10:g.633982C>A	TOPMed,gnomAD
rs370746314	p.Glu525Lys	missense variant	-	NC_000016.10:g.633983G>A	ESP,ExAC,gnomAD
rs370746314	p.Glu525Gln	missense variant	-	NC_000016.10:g.633983G>C	ESP,ExAC,gnomAD
rs374395816	p.Arg527Cys	missense variant	-	NC_000016.10:g.633989C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs576026786	p.Arg527His	missense variant	-	NC_000016.10:g.633990G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs781263225	p.Val528Leu	missense variant	-	NC_000016.10:g.633992G>C	ExAC,TOPMed,gnomAD
rs781263225	p.Val528Ile	missense variant	-	NC_000016.10:g.633992G>A	ExAC,TOPMed,gnomAD
rs781263225	p.Val528Phe	missense variant	-	NC_000016.10:g.633992G>T	ExAC,TOPMed,gnomAD
rs1185038516	p.Lys529Arg	missense variant	-	NC_000016.10:g.633996A>G	TOPMed
rs756127097	p.Lys530Glu	missense variant	-	NC_000016.10:g.633998A>G	ExAC,gnomAD
rs780540369	p.Lys530Met	missense variant	-	NC_000016.10:g.633999A>T	ExAC,gnomAD
rs1413642772	p.Leu532Phe	missense variant	-	NC_000016.10:g.634006G>C	gnomAD
rs181304210	p.Gln538Glu	missense variant	-	NC_000016.10:g.634022C>G	1000Genomes,ExAC,gnomAD
rs1242359924	p.Gln538His	missense variant	-	NC_000016.10:g.634024G>C	gnomAD
rs748428713	p.Ala539Val	missense variant	-	NC_000016.10:g.634026C>T	ExAC,gnomAD
rs927764568	p.Cys540Gly	missense variant	-	NC_000016.10:g.634028T>G	TOPMed,gnomAD
rs1354304168	p.Cys540Ter	stop gained	-	NC_000016.10:g.634030C>A	TOPMed,gnomAD
rs564687456	p.Glu541Lys	missense variant	-	NC_000016.10:g.634031G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs564687456	p.Glu541Gln	missense variant	-	NC_000016.10:g.634031G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1453053998	p.Leu542Pro	missense variant	-	NC_000016.10:g.634035T>C	gnomAD
rs772941811	p.Leu542Val	missense variant	-	NC_000016.10:g.634034C>G	ExAC,TOPMed,gnomAD
rs186832772	p.Asn544Ser	missense variant	-	NC_000016.10:g.634041A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765058624	p.Arg545Leu	missense variant	-	NC_000016.10:g.634044G>T	ExAC,TOPMed,gnomAD
rs759569413	p.Arg545Gly	missense variant	-	NC_000016.10:g.634043C>G	ExAC,TOPMed,gnomAD
rs759569413	p.Arg545Cys	missense variant	-	NC_000016.10:g.634043C>T	ExAC,TOPMed,gnomAD
rs765058624	p.Arg545His	missense variant	-	NC_000016.10:g.634044G>A	ExAC,TOPMed,gnomAD
rs1393534207	p.Phe546Tyr	missense variant	-	NC_000016.10:g.634047T>A	gnomAD
rs752608384	p.Phe546Leu	missense variant	-	NC_000016.10:g.634048C>G	ExAC,TOPMed,gnomAD
rs758112355	p.Gln547Glu	missense variant	-	NC_000016.10:g.634049C>G	ExAC,TOPMed,gnomAD
rs758112355	p.Gln547Ter	stop gained	-	NC_000016.10:g.634049C>T	ExAC,TOPMed,gnomAD
rs767789787	p.Asp548Gly	missense variant	-	NC_000016.10:g.634053A>G	ExAC,gnomAD
rs1457424191	p.Ter549Glu	stop lost	-	NC_000016.10:g.634055T>G	TOPMed

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004867	serine-type endopeptidase inhibitor activity	IEA
GO:0005515	protein binding	IPI
GO:0008191	metalloendopeptidase inhibitor activity	IEA
GO:0048019	receptor antagonist activity	IDA
GO:0048019	receptor antagonist activity	IBA
GO:0050431	transforming growth factor beta binding	IDA
GO:0050431	transforming growth factor beta binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001501	skeletal system development	IEA
GO:0010951	negative regulation of endopeptidase activity	IEA
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IDA
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IBA
GO:0032091	negative regulation of protein binding	IEA
GO:0043392	negative regulation of DNA binding	IEA
GO:0048747	muscle fiber development	IEA
GO:0060021	roof of mouth development	IEA
GO:2000272	negative regulation of signaling receptor activity	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in decreased expression of WFIKKN1 mRNA	28801915
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 decreased expression of WFIKKN1 mRNA	27188386
C077646	7,12-benz(a)anthraquinone	7,12-benz(a)anthraquinone results in increased expression of WFIKKN1 mRNA	26141390
C077646	7,12-benz(a)anthraquinone	AHR2 affects the reaction [7,12-benz(a)anthraquinone results in increased expression of WFIKKN1 mRNA]	26141390
C496492	abrine	abrine results in decreased expression of WFIKKN1 mRNA	31054353
C030935	benz(a)anthracene	benz(a)anthracene results in increased expression of WFIKKN1 mRNA	23656968
C012768	benzanthrone	benzanthrone results in increased expression of WFIKKN1 mRNA	26141390
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased methylation of WFIKKN1 promoter	28329817
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of WFIKKN1 mRNA	26238291
C006780	bisphenol A	bisphenol A results in increased expression of WFIKKN1 mRNA	25181051
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of WFIKKN1 mRNA	20938992
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of WFIKKN1 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of WFIKKN1 mRNA	27392435
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of WFIKKN1 mRNA	19549813
C016366	dibenzothiophene	dibenzothiophene results in increased expression of WFIKKN1 mRNA	23656968
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 decreased expression of WFIKKN1 mRNA	27188386
D004726	Endosulfan	Endosulfan results in increased expression of WFIKKN1 mRNA	29391264
D004958	Estradiol	Estradiol results in decreased expression of WFIKKN1 mRNA	19484750
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of WFIKKN1 mRNA	29458080
C000591741	Firemaster 550	Firemaster 550 results in increased expression of WFIKKN1 mRNA	27957850
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of WFIKKN1 mRNA	20938992
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of WFIKKN1 mRNA	27392435
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of WFIKKN1 mRNA	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of WFIKKN1 mRNA	23103053
C030984	pyrene	pyrene results in increased expression of WFIKKN1 mRNA	23656968
D012834	Silver	Silver results in increased expression of WFIKKN1 mRNA	27131904
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of WFIKKN1 mRNA	30398377
C011126	tetraiodothyroacetic acid	tetraiodothyroacetic acid results in increased expression of WFIKKN1 mRNA	29458080
D014212	Tretinoin	Tretinoin results in increased expression of WFIKKN1 mRNA	20488242
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 decreased expression of WFIKKN1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of WFIKKN1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of WFIKKN1 mRNA	23179753; 24383497; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased methylation of WFIKKN1 gene	29154799

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0393	Immunoglobulin domain
KW-0481	Metalloenzyme inhibitor
KW-0483	Metalloprotease inhibitor
KW-0646	Protease inhibitor
KW-1185	Reference proteome
KW-0677	Repeat
KW-0964	Secreted
KW-0722	Serine protease inhibitor
KW-0732	Signal

Interpro

InterPro ID	InterPro Term
IPR036645	Elafin-like_sf
IPR007110	Ig-like_dom
IPR036179	Ig-like_dom_sf
IPR013783	Ig-like_fold
IPR003599	Ig_sub
IPR003598	Ig_sub2
IPR002350	Kazal_dom
IPR036058	Kazal_dom_sf
IPR002223	Kunitz_BPTI
IPR036880	Kunitz_BPTI_sf
IPR001134	Netrin_domain
IPR020901	Prtase_inh_Kunz-CS
IPR008993	TIMP-like_OB-fold
IPR008197	WAP_dom
IPR033638	WFIKKN1

PROSITE

PROSITE ID	PROSITE Term
PS00280	BPTI_KUNITZ_1
PS50279	BPTI_KUNITZ_2
PS50835	IG_LIKE
PS51465	KAZAL_2
PS50189	NTR
PS51390	WAP

Pfam

Pfam ID	Pfam Term
PF00014	Kunitz_BPTI
PF00095	WAP

Gene: WFIKKN1

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

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