CleftGeneDB-Search

Gene: AXIN2

Basic information

Tag	Content
Uniprot ID	Q9Y2T1; Q3MJ88; Q9H3M6; Q9UH84;
Entrez ID	8313
Genbank protein ID	AAD20976.1; AAI01534.1; AAF22799.1; BAB19762.1;
Genbank nucleotide ID	NM_004655.3
Ensembl protein ID	ENSP00000302625
Ensembl nucleotide ID	ENSG00000168646
Gene name	Axin-2
Gene symbol	AXIN2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	28376813; 24484320; 26602496; 22370446;
Functional description	Inhibitor of the Wnt signaling pathway. Down-regulates beta-catenin. Probably facilitate the phosphorylation of beta-catenin and APC by GSK3B.
Sequence	MSSAMLVTCL PDPSSSFRED APRPPVPGEE GETPPCQPGV GKGQVTKPMS VSSNTRRNED 60 GLGEPEGRAS PDSPLTRWTK SLHSLLGDQD GAYLFRTFLE REKCVDTLDF WFACNGFRQM 120 NLKDTKTLRV AKAIYKRYIE NNSIVSKQLK PATKTYIRDG IKKQQIDSIM FDQAQTEIQS 180 VMEENAYQMF LTSDIYLEYV RSGGENTAYM SNGGLGSLKV VCGYLPTLNE EEEWTCADFK 240 CKLSPTVVGL SSKTLRATAS VRSTETVDSG YRSFKRSDPV NPYHIGSGYV FAPATSANDS 300 EISSDALTDD SMSMTDSSVD GIPPYRVGSK KQLQREMHRS VKANGQVSLP HFPRTHRLPK 360 EMTPVEPATF AAELISRLEK LKLELESRHS LEERLQQIRE DEEREGSELT LNSREGAPTQ 420 HPLSLLPSGS YEEDPQTILD DHLSRVLKTP GCQSPGVGRY SPRSRSPDHH HHHHSQYHSL 480 LPPGGKLPPA AASPGACPLL GGKGFVTKQT TKHVHHHYIH HHAVPKTKEE IEAEATQRVH 540 CFCPGGSEYY CYSKCKSHSK APETMPSEQF GGSRGSTLPK RNGKGTEPGL ALPAREGGAP 600 GGAGALQLPR EEGDRSQDVW QWMLESERQS KPKPHSAQST KKAYPLESAR SSPGERASRH 660 HLWGGNSGHP RTTPRAHLFT QDPAMPPLTP PNTLAQLEEA CRRLAEVSKP PKQRCCVASQ 720 QRDRNHSATV QTGATPFSNP SLAPEDHKEP KKLAGVHALQ ASELVVTYFF CGEEIPYRRM 780 LKAQSLTLGH FKEQLSKKGN YRYYFKKASD EFACGAVFEE IWEDETVLPM YEGRILGKVE 840 RID 843

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	Developmental stage	Species	Evidence	Details
1:1 ortholog	AXIN2	490903	E2R9F8		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	AXIN2	102180348	A0A452FEH8		Capra hircus	Prediction	More>>
1:1 ortholog	AXIN2	8313	Q9Y2T1		Homo sapiens	Publication	More>>
1:1 ortholog	Axin2	12006	O88566	E13.5	Mus musculus	Prediction	More>>
1:1 ortholog	AXIN2	468301	A0A2I3SZU8		Pan troglodytes	Prediction	More>>
1:1 ortholog	AXIN2		A0A287BFQ6		Sus scrofa	Prediction	More>>
1:1 ortholog	Axin2		A0A0G2K4L4		Rattus norvegicus	Prediction	More>>
1:1 ortholog	axin2	58080	P57095		Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
AXIN2	rs2240307	PCR	24484320
AXIN2	rs7224837	Family-based Association Test	22370446
AXIN2	rs1133683C>T (homozygous; increase risk)	PCR-RFLP	31268379
AXIN2	rs7210356G>A	Genontyping; TDT	28376813
AXIN2	rs11655966*T	Genotyping	26602496

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1475337539	p.Ser2Arg	missense variant	-	NC_000017.11:g.65558615A>C	gnomAD
rs762626041	p.Ser3Gly	missense variant	-	NC_000017.11:g.65558614T>C	ExAC,gnomAD
rs553412612	p.Ser3Arg	missense variant	-	NC_000017.11:g.65558612G>C	1000Genomes
rs1175877868	p.Ala4Thr	missense variant	-	NC_000017.11:g.65558611C>T	gnomAD
rs148691166	p.Met5Val	missense variant	-	NC_000017.11:g.65558608T>C	ESP,ExAC,TOPMed,gnomAD
rs730881397	p.Met5Arg	missense variant	-	NC_000017.11:g.65558607A>C	gnomAD
NCI-TCGA novel	p.Met5CysPheSerTerUnk	frameshift	-	NC_000017.11:g.65558609A>-	NCI-TCGA
rs730881397	p.Met5Lys	missense variant	-	NC_000017.11:g.65558607A>T	gnomAD
rs878854723	p.Val7Leu	missense variant	-	NC_000017.11:g.65558602C>A	TOPMed,gnomAD
rs878854723	p.Val7Met	missense variant	-	NC_000017.11:g.65558602C>T	TOPMed,gnomAD
rs1275134450	p.Thr8Ser	missense variant	-	NC_000017.11:g.65558599T>A	gnomAD
rs765173791	p.Cys9Phe	missense variant	-	NC_000017.11:g.65558595C>A	ExAC,gnomAD
rs776778201	p.Pro11Leu	missense variant	-	NC_000017.11:g.65558589G>A	ExAC,gnomAD
rs1064793821	p.Asp12His	missense variant	-	NC_000017.11:g.65558587C>G	-
rs1375330430	p.Pro13Ser	missense variant	-	NC_000017.11:g.65558584G>A	gnomAD
rs759551291	p.Ser15Gly	missense variant	-	NC_000017.11:g.65558578T>C	ExAC,gnomAD
rs878854732	p.Arg18Leu	missense variant	-	NC_000017.11:g.65558568C>A	gnomAD
rs878854732	p.Arg18Pro	missense variant	-	NC_000017.11:g.65558568C>G	gnomAD
rs878854732	p.Arg18His	missense variant	-	NC_000017.11:g.65558568C>T	gnomAD
COSM3820283	p.Arg18Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65558569G>A	NCI-TCGA Cosmic
rs768267292	p.Asp20Asn	missense variant	-	NC_000017.11:g.65558563C>T	gnomAD
rs768267292	p.Asp20His	missense variant	-	NC_000017.11:g.65558563C>G	gnomAD
NCI-TCGA novel	p.Ala21Val	missense variant	-	NC_000017.11:g.65558559G>A	NCI-TCGA
rs1343964499	p.Pro22Leu	missense variant	-	NC_000017.11:g.65558556G>A	gnomAD
NCI-TCGA novel	p.Arg23AlaPheSerTerUnkUnkUnk	frameshift	-	NC_000017.11:g.65558555_65558556insG	NCI-TCGA
COSM983049	p.Arg23Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65558554G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro27GlnPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.65558541G>-	NCI-TCGA
NCI-TCGA novel	p.Glu30Asp	missense variant	-	NC_000017.11:g.65558531T>G	NCI-TCGA
rs1381395730	p.Gly31Arg	missense variant	-	NC_000017.11:g.65558530C>G	gnomAD
rs1381395730	p.Gly31Arg	missense variant	-	NC_000017.11:g.65558530C>T	gnomAD
rs1173490917	p.Glu32Lys	missense variant	-	NC_000017.11:g.65558527C>T	gnomAD
rs1453134737	p.Glu32Asp	missense variant	-	NC_000017.11:g.65558525C>A	gnomAD
rs1453134737	p.Glu32Asp	missense variant	-	NC_000017.11:g.65558525C>G	gnomAD
rs771093792	p.Thr33Ser	missense variant	-	NC_000017.11:g.65558523G>C	ExAC,gnomAD
rs771093792	p.Thr33Asn	missense variant	-	NC_000017.11:g.65558523G>T	ExAC,gnomAD
rs574154714	p.Pro34Ala	missense variant	-	NC_000017.11:g.65558521G>C	1000Genomes,ExAC,gnomAD
rs574154714	p.Pro34Ser	missense variant	-	NC_000017.11:g.65558521G>A	1000Genomes,ExAC,gnomAD
rs770206565	p.Pro34Gln	missense variant	-	NC_000017.11:g.65558520G>T	ExAC,gnomAD
rs748495558	p.Pro35Leu	missense variant	-	NC_000017.11:g.65558517G>A	ExAC,gnomAD
rs1555583751	p.Cys36Tyr	missense variant	-	NC_000017.11:g.65558514C>T	-
rs1555583747	p.Gln37Ter	stop gained	-	NC_000017.11:g.65558512G>A	-
rs1555583744	p.Pro38Leu	missense variant	-	NC_000017.11:g.65558508G>A	-
rs878854716	p.Pro38Ala	missense variant	-	NC_000017.11:g.65558509G>C	-
rs1555583743	p.Val40Met	missense variant	-	NC_000017.11:g.65558503C>T	-
rs781560435	p.Val40Gly	missense variant	-	NC_000017.11:g.65558502A>C	ExAC,gnomAD
rs755444120	p.Gly41Cys	missense variant	-	NC_000017.11:g.65558500C>A	ExAC
rs751061508	p.Gly41Val	missense variant	-	NC_000017.11:g.65558499C>A	ExAC,gnomAD
rs751061508	p.Gly41Asp	missense variant	-	NC_000017.11:g.65558499C>T	ExAC,gnomAD
rs1555583730	p.Lys42Asn	missense variant	-	NC_000017.11:g.65558495C>G	-
rs779567219	p.Lys42Arg	missense variant	-	NC_000017.11:g.65558496T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly43Asp	missense variant	-	NC_000017.11:g.65558493C>T	NCI-TCGA
rs1345677890	p.Gly43Ser	missense variant	-	NC_000017.11:g.65558494C>T	gnomAD
rs1060502131	p.Gln44Leu	missense variant	-	NC_000017.11:g.65558490T>A	gnomAD
rs1555583721	p.Thr46Ala	missense variant	-	NC_000017.11:g.65558485T>C	-
rs1555583718	p.Pro48Leu	missense variant	-	NC_000017.11:g.65558478G>A	-
rs373435521	p.Pro48Ser	missense variant	-	NC_000017.11:g.65558479G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met49ProPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.65558476_65558477insGG	NCI-TCGA
rs1433573233	p.Met49Leu	missense variant	-	NC_000017.11:g.65558476T>G	TOPMed
rs2240308	p.Ser50Pro	missense variant	-	NC_000017.11:g.65558473G>A	UniProt,dbSNP
VAR_054860	p.Ser50Pro	missense variant	-	NC_000017.11:g.65558473G>A	UniProt
rs2240308	p.Pro50Ser	missense variant	-	NC_000017.11:g.65558473G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAR_054860	p.Ser50Pro	Missense	-	-	UniProt
rs753631236	p.Val51Leu	missense variant	-	NC_000017.11:g.65558470C>G	ExAC,gnomAD
rs760625400	p.Ser53Cys	missense variant	-	NC_000017.11:g.65558463G>C	ExAC,gnomAD
rs876661194	p.Asn54Ser	missense variant	-	NC_000017.11:g.65558460T>C	-
rs1427989179	p.Asn54Lys	missense variant	-	NC_000017.11:g.65558459G>T	gnomAD
rs899824837	p.Arg56Ser	missense variant	-	NC_000017.11:g.65558453C>A	TOPMed
rs1431601772	p.Arg56Gly	missense variant	-	NC_000017.11:g.65558455T>C	TOPMed
rs1555583686	p.Arg57Trp	missense variant	-	NC_000017.11:g.65558452G>A	-
rs771078276	p.Arg57Gln	missense variant	-	NC_000017.11:g.65558451C>T	ExAC,gnomAD
rs763012548	p.Asn58Lys	missense variant	-	NC_000017.11:g.65558447G>C	ExAC,TOPMed,gnomAD
rs773477442	p.Glu59Gln	missense variant	-	NC_000017.11:g.65558446C>G	ExAC,gnomAD
rs1555583673	p.Asp60Gly	missense variant	-	NC_000017.11:g.65558442T>C	-
rs1018815193	p.Gly61Glu	missense variant	-	NC_000017.11:g.65558439C>T	TOPMed,gnomAD
rs1018815193	p.Gly61Ala	missense variant	-	NC_000017.11:g.65558439C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Leu62Ser	missense variant	-	NC_000017.11:g.65558436A>G	NCI-TCGA
rs1060502158	p.Gly63Arg	missense variant	-	NC_000017.11:g.65558434C>G	-
COSM983047	p.Pro65Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65558427G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg68Trp	missense variant	-	NC_000017.11:g.65558419G>A	NCI-TCGA
rs138056036	p.Arg68Gln	missense variant	-	NC_000017.11:g.65558418C>T	ESP,ExAC,TOPMed,gnomAD
rs1555583645	p.Ser70Phe	missense variant	-	NC_000017.11:g.65558412G>A	-
rs1060502145	p.Pro71Leu	missense variant	-	NC_000017.11:g.65558409G>A	-
rs769064498	p.Pro71Ser	missense variant	-	NC_000017.11:g.65558410G>A	ExAC,TOPMed,gnomAD
rs747599888	p.Asp72His	missense variant	-	NC_000017.11:g.65558407C>G	ExAC,gnomAD
rs1306348080	p.Ser73Cys	missense variant	-	NC_000017.11:g.65558403G>C	gnomAD
rs780394272	p.Leu75Val	missense variant	-	NC_000017.11:g.65558398G>C	ExAC,gnomAD
rs730881402	p.Thr76Ser	missense variant	-	NC_000017.11:g.65558394G>C	ExAC,TOPMed,gnomAD
rs778517452	p.Arg77Gln	missense variant	-	NC_000017.11:g.65558391C>T	ExAC,TOPMed,gnomAD
rs1202629263	p.Thr79Ile	missense variant	-	NC_000017.11:g.65558385G>A	TOPMed
rs369009135	p.Lys80Arg	missense variant	-	NC_000017.11:g.65558382T>C	ESP
rs756904728	p.Ser81Ala	missense variant	-	NC_000017.11:g.65558380A>C	ExAC,gnomAD
rs146238336	p.Ser81Phe	missense variant	-	NC_000017.11:g.65558379G>A	ESP,ExAC,TOPMed,gnomAD
rs1488655314	p.His83Tyr	missense variant	-	NC_000017.11:g.65558374G>A	TOPMed
rs878854729	p.Ser84Cys	missense variant	-	NC_000017.11:g.65558370G>C	TOPMed
rs1060502137	p.Leu85Ser	missense variant	-	NC_000017.11:g.65558367A>G	-
rs1186148018	p.Asp88Gly	missense variant	-	NC_000017.11:g.65558358T>C	gnomAD
rs752743306	p.Asp88His	missense variant	-	NC_000017.11:g.65558359C>G	ExAC,gnomAD
rs767340577	p.Asp88Glu	missense variant	-	NC_000017.11:g.65558357A>T	ExAC,gnomAD
rs1258020418	p.Gln89Arg	missense variant	-	NC_000017.11:g.65558355T>C	gnomAD
rs1250947526	p.Gln89Lys	missense variant	-	NC_000017.11:g.65558356G>T	TOPMed
rs141655687	p.Asp90Glu	missense variant	-	NC_000017.11:g.65558351G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1480283302	p.Gly91Ser	missense variant	-	NC_000017.11:g.65558350C>T	gnomAD
COSM1324898	p.Tyr93Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65558343T>A	NCI-TCGA Cosmic
rs1555583568	p.Phe95Leu	missense variant	-	NC_000017.11:g.65558336G>T	-
COSM983045	p.Arg96Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65558334C>T	NCI-TCGA Cosmic
COSM5889324	p.Arg96Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.65558335G>A	NCI-TCGA Cosmic
rs1555583566	p.Thr97Ile	missense variant	-	NC_000017.11:g.65558331G>A	-
COSM1385337	p.Thr97PhePheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.65558332_65558333TT>-	NCI-TCGA Cosmic
rs773206945	p.Phe98Leu	missense variant	-	NC_000017.11:g.65558329A>G	ExAC,gnomAD
rs769104629	p.Glu102Lys	missense variant	-	NC_000017.11:g.65558317C>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys103AsnPheSerTerUnk	frameshift	-	NC_000017.11:g.65558315C>-	NCI-TCGA
rs186514805	p.Lys103Arg	missense variant	-	NC_000017.11:g.65558313T>C	1000Genomes,ExAC,gnomAD
rs373628863	p.Cys104Trp	missense variant	-	NC_000017.11:g.65558309G>C	ESP,ExAC,TOPMed
rs752881223	p.Val105Gly	missense variant	-	NC_000017.11:g.65558307A>C	-
rs1555583537	p.Thr107Ala	missense variant	-	NC_000017.11:g.65558302T>C	-
rs112058150	p.Leu108Val	missense variant	-	NC_000017.11:g.65558299A>C	-
rs1176996295	p.Asp109Glu	missense variant	-	NC_000017.11:g.65558294G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Trp111GlyPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.65558290A>-	NCI-TCGA
NCI-TCGA novel	p.Cys114Gly	missense variant	-	NC_000017.11:g.65558281A>C	NCI-TCGA
COSM3421803	p.Cys114Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65558280C>A	NCI-TCGA Cosmic
rs370257532	p.Asn115Ser	missense variant	-	NC_000017.11:g.65558277T>C	ESP,ExAC,TOPMed,gnomAD
rs756996397	p.Arg118Lys	missense variant	-	NC_000017.11:g.65558268C>T	ExAC,gnomAD
rs777282977	p.Gln119Pro	missense variant	-	NC_000017.11:g.65558265T>G	ExAC,TOPMed,gnomAD
rs777282977	p.Gln119Arg	missense variant	-	NC_000017.11:g.65558265T>C	ExAC,TOPMed,gnomAD
COSM983041	p.Gln119His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65558264C>A	NCI-TCGA Cosmic
COSM1184282	p.Met120Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65558261C>A	NCI-TCGA Cosmic
rs1162974793	p.Leu122Arg	missense variant	-	NC_000017.11:g.65558256A>C	TOPMed,gnomAD
rs755990979	p.Asp124Asn	missense variant	-	NC_000017.11:g.65558251C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr125SerPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.65558231_65558247TACTCGTAAAGTTTTGG>-	NCI-TCGA
COSM983039	p.Arg129Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65558235C>A	NCI-TCGA Cosmic
COSM4837262	p.Arg129Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65558235C>T	NCI-TCGA Cosmic
rs947743204	p.Ala131Gly	missense variant	-	NC_000017.11:g.65558229G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ala131Ser	missense variant	-	NC_000017.11:g.65558230C>A	NCI-TCGA
rs767445163	p.Ala133Val	missense variant	-	NC_000017.11:g.65558223G>A	ExAC,gnomAD
rs916243872	p.Ile134Val	missense variant	-	NC_000017.11:g.65558221T>C	TOPMed
rs144607215	p.Tyr135Asn	missense variant	-	NC_000017.11:g.65558218A>T	ESP
rs1457819815	p.Lys136Arg	missense variant	-	NC_000017.11:g.65558214T>C	gnomAD
rs1060502146	p.Ile139Val	missense variant	-	NC_000017.11:g.65558206T>C	-
NCI-TCGA novel	p.Glu140Gln	missense variant	-	NC_000017.11:g.65558203C>G	NCI-TCGA
rs1211381343	p.Asn141Ser	missense variant	-	NC_000017.11:g.65558199T>C	gnomAD
rs765336893	p.Asn142Ser	missense variant	-	NC_000017.11:g.65558196T>C	gnomAD
rs765348456	p.Ser143Gly	missense variant	-	NC_000017.11:g.65558194T>C	ExAC,gnomAD
rs761849564	p.Ser143Asn	missense variant	-	NC_000017.11:g.65558193C>T	ExAC,gnomAD
rs1555583470	p.Ile144Val	missense variant	-	NC_000017.11:g.65558191T>C	-
rs1309778870	p.Gln148Arg	missense variant	-	NC_000017.11:g.65558178T>C	gnomAD
rs772740656	p.Ala152Thr	missense variant	-	NC_000017.11:g.65558167C>T	ExAC,TOPMed,gnomAD
rs1555583456	p.Thr153Ile	missense variant	-	NC_000017.11:g.65558163G>A	-
rs1443332884	p.Thr155Ala	missense variant	-	NC_000017.11:g.65558158T>C	gnomAD
rs1060502159	p.Tyr156Cys	missense variant	-	NC_000017.11:g.65558154T>C	gnomAD
COSM6081719	p.Tyr156Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.65558153G>T	NCI-TCGA Cosmic
rs951973598	p.Ile157Val	missense variant	-	NC_000017.11:g.65558152T>C	TOPMed
rs748730853	p.Arg158Thr	missense variant	-	NC_000017.11:g.65558148C>G	ExAC,TOPMed,gnomAD
rs753036084	p.Asp159His	missense variant	-	NC_000017.11:g.65558146C>G	ExAC,TOPMed,gnomAD
rs753036084	p.Asp159Tyr	missense variant	-	NC_000017.11:g.65558146C>A	ExAC,TOPMed,gnomAD
rs753036084	p.Asp159Asn	missense variant	-	NC_000017.11:g.65558146C>T	ExAC,TOPMed,gnomAD
rs1162424416	p.Gly160Asp	missense variant	-	NC_000017.11:g.65558142C>T	TOPMed
rs1160324143	p.Ile161Met	missense variant	-	NC_000017.11:g.65558138G>C	gnomAD
rs370606806	p.Lys162Arg	missense variant	-	NC_000017.11:g.65558136T>C	ESP,TOPMed
rs748004347	p.Lys162Glu	missense variant	-	NC_000017.11:g.65558137T>C	ExAC,gnomAD
rs370606806	p.Lys162Thr	missense variant	-	NC_000017.11:g.65558136T>G	ESP,TOPMed
NCI-TCGA novel	p.Gln164Glu	missense variant	-	NC_000017.11:g.65558131G>C	NCI-TCGA
rs1555583424	p.Ile166Thr	missense variant	-	NC_000017.11:g.65558124A>G	-
rs375603095	p.Asp167Glu	missense variant	-	NC_000017.11:g.65558120A>C	ESP,TOPMed
NCI-TCGA novel	p.Asp167His	missense variant	-	NC_000017.11:g.65558122C>G	NCI-TCGA
rs1060502155	p.Ile169Val	missense variant	-	NC_000017.11:g.65558116T>C	-
NCI-TCGA novel	p.Phe171Cys	missense variant	-	NC_000017.11:g.65558109A>C	NCI-TCGA
NCI-TCGA novel	p.Phe171Ser	missense variant	-	NC_000017.11:g.65558109A>G	NCI-TCGA
COSM1479877	p.Asp172His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65558107C>G	NCI-TCGA Cosmic
rs886053281	p.Gln173Lys	missense variant	-	NC_000017.11:g.65558104G>T	-
rs1555583417	p.Ala174Val	missense variant	-	NC_000017.11:g.65558100G>A	-
NCI-TCGA novel	p.Gln175Ter	stop gained	-	NC_000017.11:g.65558098G>A	NCI-TCGA
rs878854731	p.Thr176Ile	missense variant	-	NC_000017.11:g.65558094G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu177Ala	missense variant	-	NC_000017.11:g.65558091T>G	NCI-TCGA
NCI-TCGA novel	p.Glu177Asp	missense variant	-	NC_000017.11:g.65558090C>G	NCI-TCGA
rs1555583409	p.Gln179Arg	missense variant	-	NC_000017.11:g.65558085T>C	-
rs1348898769	p.Val181Met	missense variant	-	NC_000017.11:g.65558080C>T	TOPMed,gnomAD
rs976524379	p.Met182Val	missense variant	-	NC_000017.11:g.65558077T>C	TOPMed,gnomAD
rs1241449133	p.Met182Thr	missense variant	-	NC_000017.11:g.65558076A>G	gnomAD
rs538659423	p.Glu184Lys	missense variant	-	NC_000017.11:g.65558071C>T	1000Genomes
rs1301940236	p.Asn185His	missense variant	-	NC_000017.11:g.65558068T>G	gnomAD
rs757415705	p.Ala186Val	missense variant	-	NC_000017.11:g.65558064G>A	ExAC,gnomAD
rs753137017	p.Gln188His	missense variant	-	NC_000017.11:g.65558057C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln188Pro	missense variant	-	NC_000017.11:g.65558058T>G	NCI-TCGA
rs753803824	p.Gln188Glu	missense variant	-	NC_000017.11:g.65558059G>C	ExAC,gnomAD
rs149000772	p.Gln188Arg	missense variant	-	NC_000017.11:g.65558058T>C	ESP,ExAC,TOPMed,gnomAD
rs759953633	p.Met189Lys	missense variant	-	NC_000017.11:g.65558055A>T	ExAC,gnomAD
rs768030934	p.Met189Leu	missense variant	-	NC_000017.11:g.65558056T>A	ExAC,gnomAD
rs762082964	p.Met189Ile	missense variant	-	NC_000017.11:g.65558054C>T	-
NCI-TCGA novel	p.Phe190Cys	missense variant	-	NC_000017.11:g.65558052A>C	NCI-TCGA
rs1337342790	p.Phe190Leu	missense variant	-	NC_000017.11:g.65558051A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Leu191Phe	missense variant	-	NC_000017.11:g.65558048C>A	NCI-TCGA
COSM1385335	p.Leu191Ter	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.65558049A>-	NCI-TCGA Cosmic
rs1413763058	p.Thr192Ile	missense variant	-	NC_000017.11:g.65558046G>A	TOPMed
rs775069864	p.Ile195Thr	missense variant	-	NC_000017.11:g.65558037A>G	ExAC,TOPMed,gnomAD
rs771501783	p.Ile195Met	missense variant	-	NC_000017.11:g.65558036T>C	ExAC
rs762542140	p.Tyr196His	missense variant	-	NC_000017.11:g.65558035A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu198Lys	missense variant	-	NC_000017.11:g.65558029C>T	NCI-TCGA
rs1478720065	p.Glu198Asp	missense variant	-	NC_000017.11:g.65558027T>A	gnomAD
rs1555583360	p.Glu198Ala	missense variant	-	NC_000017.11:g.65558028T>G	-
rs772550463	p.Glu198Gln	missense variant	-	NC_000017.11:g.65558029C>G	ExAC,gnomAD
rs752081909	p.Val200Met	missense variant	-	NC_000017.11:g.65558023C>T	ExAC,TOPMed,gnomAD
rs999658623	p.Arg201Lys	missense variant	-	NC_000017.11:g.65558019C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser202Arg	missense variant	-	NC_000017.11:g.65558015A>T	NCI-TCGA
NCI-TCGA novel	p.Ser202Asn	missense variant	-	NC_000017.11:g.65558016C>T	NCI-TCGA
rs780801809	p.Ser202Arg	missense variant	-	NC_000017.11:g.65558017T>G	ExAC,TOPMed,gnomAD
rs62640027	p.Gly203Arg	missense variant	-	NC_000017.11:g.65558014C>T	ExAC,TOPMed,gnomAD
rs62640027	p.Gly203Arg	missense variant	-	NC_000017.11:g.65558014C>G	ExAC,TOPMed,gnomAD
rs62640027	p.Gly203Trp	missense variant	-	NC_000017.11:g.65558014C>A	ExAC,TOPMed,gnomAD
rs1555583340	p.Gly203Ala	missense variant	-	NC_000017.11:g.65558013C>G	-
NCI-TCGA novel	p.Gly204GluPheSerTerUnk	frameshift	-	NC_000017.11:g.65558010C>-	NCI-TCGA
rs201531372	p.Ala208Val	missense variant	-	NC_000017.11:g.65557998G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs529954883	p.Met210Thr	missense variant	-	NC_000017.11:g.65557992A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs756185275	p.Met210Ile	missense variant	-	NC_000017.11:g.65557991C>G	ExAC
rs201399449	p.Ser211Thr	missense variant	-	NC_000017.11:g.65557989C>G	1000Genomes,gnomAD
rs201399449	p.Ser211Asn	missense variant	-	NC_000017.11:g.65557989C>T	1000Genomes,gnomAD
rs368610577	p.Asn212Ser	missense variant	-	NC_000017.11:g.65557986T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly214AspPheSerTerUnk	frameshift	-	NC_000017.11:g.65557980C>-	NCI-TCGA
rs1419378216	p.Gly214Val	missense variant	-	NC_000017.11:g.65557980C>A	gnomAD
rs1555583315	p.Gly216Arg	missense variant	-	NC_000017.11:g.65557975C>T	-
rs1044406215	p.Gly216Glu	missense variant	-	NC_000017.11:g.65557974C>T	TOPMed
rs759988180	p.Ser217Arg	missense variant	-	NC_000017.11:g.65557970G>C	ExAC,gnomAD
rs766935285	p.Leu218Val	missense variant	-	NC_000017.11:g.65557969G>C	ExAC,TOPMed,gnomAD
rs766935285	p.Leu218Ile	missense variant	-	NC_000017.11:g.65557969G>T	ExAC,TOPMed,gnomAD
rs1310922131	p.Val220Ile	missense variant	-	NC_000017.11:g.65557963C>T	gnomAD
rs1402235122	p.Val221Leu	missense variant	-	NC_000017.11:g.65557960C>G	gnomAD
rs878854733	p.Gly223Arg	missense variant	-	NC_000017.11:g.65557954C>G	TOPMed,gnomAD
rs878854733	p.Gly223Ser	missense variant	-	NC_000017.11:g.65557954C>T	TOPMed,gnomAD
rs1166843937	p.Tyr224Cys	missense variant	-	NC_000017.11:g.65557950T>C	TOPMed,gnomAD
rs1243178407	p.Pro226His	missense variant	-	NC_000017.11:g.65557944G>T	TOPMed,gnomAD
rs1483174622	p.Thr227Ala	missense variant	-	NC_000017.11:g.65557942T>C	TOPMed
rs1180715732	p.Thr227Ile	missense variant	-	NC_000017.11:g.65557941G>A	TOPMed
rs764704332	p.Asn229Ile	missense variant	-	NC_000017.11:g.65557935T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn229Asp	missense variant	-	NC_000017.11:g.65557936T>C	NCI-TCGA
rs764704332	p.Asn229Ser	missense variant	-	NC_000017.11:g.65557935T>C	ExAC,TOPMed,gnomAD
rs761299800	p.Glu231Lys	missense variant	-	NC_000017.11:g.65557930C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu232Gln	missense variant	-	NC_000017.11:g.65557927C>G	NCI-TCGA
rs776333136	p.Thr235Ile	missense variant	-	NC_000017.11:g.65557917G>A	ExAC,gnomAD
rs1194128028	p.Cys236Tyr	missense variant	-	NC_000017.11:g.65557914C>T	gnomAD
NCI-TCGA novel	p.Asp238His	missense variant	-	NC_000017.11:g.65557909C>G	NCI-TCGA
rs1279069233	p.Asp238Asn	missense variant	-	NC_000017.11:g.65557909C>T	TOPMed,gnomAD
rs746819327	p.Lys240Arg	missense variant	-	NC_000017.11:g.65557902T>C	ExAC,TOPMed,gnomAD
rs1372561560	p.Lys240Asn	missense variant	-	NC_000017.11:g.65557901C>G	TOPMed
rs370549410	p.Cys241Gly	missense variant	-	NC_000017.11:g.65557900A>C	ExAC,gnomAD
rs1410654676	p.Cys241Tyr	missense variant	-	NC_000017.11:g.65557899C>T	TOPMed
rs1060502152	p.Leu243Val	missense variant	-	NC_000017.11:g.65557894G>C	TOPMed
rs199798353	p.Ser244Leu	missense variant	-	NC_000017.11:g.65557890G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199798353	p.Ser244Trp	missense variant	-	NC_000017.11:g.65557890G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs62640028	p.Pro245Ser	missense variant	-	NC_000017.11:g.65557888G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs62640028	p.Pro245Ala	missense variant	-	NC_000017.11:g.65557888G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1555583222	p.Thr246Ser	missense variant	-	NC_000017.11:g.65557885T>A	-
rs755206242	p.Val247Met	missense variant	-	NC_000017.11:g.65557882C>T	ExAC,TOPMed,gnomAD
rs755206242	p.Val247Leu	missense variant	-	NC_000017.11:g.65557882C>G	ExAC,TOPMed,gnomAD
rs755206242	p.Val247Leu	missense variant	-	NC_000017.11:g.65557882C>A	ExAC,TOPMed,gnomAD
rs758769942	p.Val248Ile	missense variant	-	NC_000017.11:g.65557879C>T	ExAC,TOPMed,gnomAD
rs1555583211	p.Val248Gly	missense variant	-	NC_000017.11:g.65557878A>C	-
rs758769942	p.Val248Phe	missense variant	-	NC_000017.11:g.65557879C>A	ExAC,TOPMed,gnomAD
rs1060502149	p.Leu250Phe	missense variant	-	NC_000017.11:g.65557871C>A	TOPMed
rs750951236	p.Ser252Ile	missense variant	-	NC_000017.11:g.65557866C>A	ExAC,TOPMed,gnomAD
rs1064796197	p.Ser252Pro	missense variant	-	NC_000017.11:g.65557866_65557867delinsGG	-
NCI-TCGA novel	p.Thr254ProPheSerTerUnk	frameshift	-	NC_000017.11:g.65557852_65557861CCCTCAGAGT>-	NCI-TCGA
rs142454363	p.Arg256Ser	missense variant	-	NC_000017.11:g.65557853C>A	ESP,ExAC
NCI-TCGA novel	p.Arg256GluPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.65557856_65557857insA	NCI-TCGA
rs761317788	p.Ala257Val	missense variant	-	NC_000017.11:g.65557851G>A	ExAC,gnomAD
rs1183931601	p.Thr258Ala	missense variant	-	NC_000017.11:g.65557849T>C	gnomAD
rs1473358053	p.Thr258Met	missense variant	-	NC_000017.11:g.65557848G>A	gnomAD
NCI-TCGA novel	p.Ala259ArgPheSerTerUnk	frameshift	-	NC_000017.11:g.65557846C>-	NCI-TCGA
rs1239640498	p.Ala259Val	missense variant	-	NC_000017.11:g.65557845G>A	gnomAD
rs760279483	p.Val261Glu	missense variant	-	NC_000017.11:g.65557839A>T	ExAC,gnomAD
rs878854734	p.Arg262Lys	missense variant	-	NC_000017.11:g.65557836C>T	-
rs377293563	p.Ser263Tyr	missense variant	-	NC_000017.11:g.65557833G>T	ESP,ExAC,gnomAD
rs771809149	p.Thr264Met	missense variant	-	NC_000017.11:g.65557830G>A	ExAC,gnomAD
rs1064794876	p.Thr264Ala	missense variant	-	NC_000017.11:g.65557831T>C	TOPMed
NCI-TCGA novel	p.Glu265Lys	missense variant	-	NC_000017.11:g.65557828C>T	NCI-TCGA
rs1555583178	p.Thr266Ala	missense variant	-	NC_000017.11:g.65557825T>C	-
rs878854735	p.Val267Leu	missense variant	-	NC_000017.11:g.65557822C>G	TOPMed
NCI-TCGA novel	p.Asp268Tyr	missense variant	-	NC_000017.11:g.65557819C>A	NCI-TCGA
rs745659837	p.Asp268Asn	missense variant	-	NC_000017.11:g.65557819C>T	ExAC,gnomAD
rs1229801064	p.Ser269Gly	missense variant	-	NC_000017.11:g.65557816T>C	gnomAD
rs770848938	p.Tyr271Ter	stop gained	-	NC_000017.11:g.65557808G>T	ExAC,gnomAD
rs748265281	p.Arg272Lys	missense variant	-	NC_000017.11:g.65557806C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg272Trp	missense variant	-	NC_000017.11:g.65557807T>A	NCI-TCGA
rs748265281	p.Arg272Thr	missense variant	-	NC_000017.11:g.65557806C>G	ExAC,gnomAD
COSM3521038	p.Lys275Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65549652T>C	NCI-TCGA Cosmic
rs1173628990	p.Arg276Thr	missense variant	-	NC_000017.11:g.65549649C>G	gnomAD
NCI-TCGA novel	p.Ser277ArgPheSerTerUnk	frameshift	-	NC_000017.11:g.65549646_65549647CT>-	NCI-TCGA
rs763027598	p.Ser277Asn	missense variant	-	NC_000017.11:g.65549646C>T	ExAC,gnomAD
rs878854737	p.Asp278Asn	missense variant	-	NC_000017.11:g.65549644C>T	TOPMed,gnomAD
rs768915721	p.Pro279Arg	missense variant	-	NC_000017.11:g.65549640G>C	ExAC,gnomAD
rs768915721	p.Pro279Leu	missense variant	-	NC_000017.11:g.65549640G>A	ExAC,gnomAD
rs1214147932	p.Val280Ile	missense variant	-	NC_000017.11:g.65549638C>T	gnomAD
rs1489180181	p.Val280Ala	missense variant	-	NC_000017.11:g.65549637A>G	TOPMed,gnomAD
rs747107796	p.Asn281Tyr	missense variant	-	NC_000017.11:g.65549635T>A	ExAC,TOPMed
rs780143881	p.Pro282Ser	missense variant	-	NC_000017.11:g.65549632G>A	ExAC,gnomAD
rs772279739	p.Pro282Leu	missense variant	-	NC_000017.11:g.65549631G>A	ExAC,gnomAD
rs1309872479	p.Tyr283Cys	missense variant	-	NC_000017.11:g.65549628T>C	gnomAD
COSM3795973	p.His284Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65549626G>A	NCI-TCGA Cosmic
rs746239590	p.Ile285Val	missense variant	-	NC_000017.11:g.65549623T>C	ExAC,gnomAD
rs779294675	p.Ile285Met	missense variant	-	NC_000017.11:g.65549621T>C	ExAC,gnomAD
rs371327205	p.Gly286Asp	missense variant	-	NC_000017.11:g.65549619C>T	ESP,ExAC,TOPMed,gnomAD
rs754388559	p.Gly288Ala	missense variant	-	NC_000017.11:g.65549613C>G	ExAC,TOPMed,gnomAD
rs1060502148	p.Tyr289Cys	missense variant	-	NC_000017.11:g.65549610T>C	-
rs1361649860	p.Val290Ile	missense variant	-	NC_000017.11:g.65549608C>T	gnomAD
rs376949421	p.Phe291Cys	missense variant	-	NC_000017.11:g.65549604A>C	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Ala292CysPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.65549602_65549603insA	NCI-TCGA
rs1360920012	p.Ala292Pro	missense variant	-	NC_000017.11:g.65549602C>G	gnomAD
rs1060502154	p.Pro293Gln	missense variant	-	NC_000017.11:g.65549598G>T	-
rs751143605	p.Ala297Thr	missense variant	-	NC_000017.11:g.65549587C>T	ExAC,TOPMed,gnomAD
rs139274803	p.Asn298Ser	missense variant	-	NC_000017.11:g.65549583T>C	ESP,ExAC,TOPMed
rs773351166	p.Asp299Asn	missense variant	-	NC_000017.11:g.65549581C>T	ExAC,TOPMed,gnomAD
rs1333766927	p.Ser300Ile	missense variant	-	NC_000017.11:g.65549577C>A	TOPMed
NCI-TCGA novel	p.Ser303IlePheSerTerUnk	frameshift	-	NC_000017.11:g.65549570_65549571insA	NCI-TCGA
rs577812215	p.Ser304Asn	missense variant	-	NC_000017.11:g.65549565C>T	1000Genomes,ExAC,gnomAD
rs577812215	p.Ser304Ile	missense variant	-	NC_000017.11:g.65549565C>A	1000Genomes,ExAC,gnomAD
rs151247101	p.Ala306Val	missense variant	-	NC_000017.11:g.65549559G>A	ESP,ExAC,TOPMed,gnomAD
rs151247101	p.Ala306Gly	missense variant	-	NC_000017.11:g.65549559G>C	ESP,ExAC,TOPMed,gnomAD
rs1064795416	p.Leu307Arg	missense variant	-	NC_000017.11:g.65549556A>C	-
NCI-TCGA novel	p.Leu307Pro	missense variant	-	NC_000017.11:g.65549556A>G	NCI-TCGA
rs779083840	p.Thr308Met	missense variant	-	NC_000017.11:g.65549553G>A	ExAC,TOPMed,gnomAD
rs1341462069	p.Asp309Asn	missense variant	-	NC_000017.11:g.65549551C>T	gnomAD
rs1394762778	p.Met312Ile	missense variant	-	NC_000017.11:g.65549540C>T	gnomAD
rs749646558	p.Met312Val	missense variant	-	NC_000017.11:g.65549542T>C	ExAC,gnomAD
rs1394762778	p.Met312Ile	missense variant	-	NC_000017.11:g.65549540C>A	gnomAD
NCI-TCGA novel	p.Met314Ile	missense variant	-	NC_000017.11:g.65549534C>T	NCI-TCGA
rs945493883	p.Met314Ile	missense variant	-	NC_000017.11:g.65549534C>A	TOPMed,gnomAD
rs778252248	p.Met314Val	missense variant	-	NC_000017.11:g.65549536T>C	ExAC,TOPMed,gnomAD
rs747647668	p.Thr315Arg	missense variant	-	NC_000017.11:g.65549532G>C	ExAC,TOPMed,gnomAD
rs747647668	p.Thr315Met	missense variant	-	NC_000017.11:g.65549532G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp316His	missense variant	-	NC_000017.11:g.65549530C>G	NCI-TCGA
rs1555581191	p.Ser318Gly	missense variant	-	NC_000017.11:g.65549524T>C	-
rs913060347	p.Val319Ile	missense variant	-	NC_000017.11:g.65549521C>T	TOPMed,gnomAD
rs1060502136	p.Asp320His	missense variant	-	NC_000017.11:g.65541556C>G	-
rs1462955225	p.Asp320Val	missense variant	-	NC_000017.11:g.65541555T>A	TOPMed
NCI-TCGA novel	p.Gly321Arg	missense variant	-	NC_000017.11:g.65541553C>T	NCI-TCGA
rs202108391	p.Pro324Leu	missense variant	-	NC_000017.11:g.65541543G>A	1000Genomes,ExAC,gnomAD
COSM4068783	p.Pro324Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65541544G>A	NCI-TCGA Cosmic
rs758075343	p.Tyr325Asp	missense variant	-	NC_000017.11:g.65541541A>C	ExAC,TOPMed,gnomAD
rs758075343	p.Tyr325His	missense variant	-	NC_000017.11:g.65541541A>G	ExAC,TOPMed,gnomAD
rs750274537	p.Arg326His	missense variant	-	NC_000017.11:g.65541537C>T	ExAC,TOPMed,gnomAD
rs201387209	p.Arg326Cys	missense variant	-	NC_000017.11:g.65541538G>A	gnomAD
rs372255441	p.Val327Met	missense variant	-	NC_000017.11:g.65541535C>T	ESP,ExAC,TOPMed,gnomAD
rs756978497	p.Val327Ala	missense variant	-	NC_000017.11:g.65541534A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly328Ser	missense variant	-	NC_000017.11:g.65541532C>T	NCI-TCGA
rs774353403	p.Ser329Asn	missense variant	-	NC_000017.11:g.65541528C>T	ExAC,TOPMed,gnomAD
rs763931522	p.Ser329Cys	missense variant	-	NC_000017.11:g.65541529T>A	ExAC,gnomAD
rs774353403	p.Ser329Thr	missense variant	-	NC_000017.11:g.65541528C>G	ExAC,TOPMed,gnomAD
rs763931522	p.Ser329Arg	missense variant	-	NC_000017.11:g.65541529T>G	ExAC,gnomAD
rs766607261	p.Lys330Glu	missense variant	-	NC_000017.11:g.65541526T>C	ExAC,TOPMed,gnomAD
rs1431858462	p.Lys331Arg	missense variant	-	NC_000017.11:g.65541522T>C	TOPMed
rs763207034	p.Gln332Arg	missense variant	-	NC_000017.11:g.65541519T>C	ExAC,gnomAD
rs773403638	p.Gln332His	missense variant	-	NC_000017.11:g.65541518C>A	ExAC,gnomAD
rs1277969472	p.Leu333Phe	missense variant	-	NC_000017.11:g.65541517G>A	TOPMed
rs770254456	p.Gln334Glu	missense variant	-	NC_000017.11:g.65541514G>C	ExAC,TOPMed,gnomAD
rs1060502134	p.Arg335Lys	missense variant	-	NC_000017.11:g.65541510C>T	-
rs1418913084	p.Met337Thr	missense variant	-	NC_000017.11:g.65541504A>G	gnomAD
rs748459029	p.His338Tyr	missense variant	-	NC_000017.11:g.65541502G>A	ExAC,gnomAD
rs1060502160	p.Arg339Gly	missense variant	-	NC_000017.11:g.65541499G>C	gnomAD
rs1060502160	p.Arg339Cys	missense variant	-	NC_000017.11:g.65541499G>A	gnomAD
COSM279093	p.Arg339His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65541498C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val341Leu	missense variant	-	NC_000017.11:g.65541493C>A	NCI-TCGA
rs1555579332	p.Lys342Met	missense variant	-	NC_000017.11:g.65541489T>A	-
rs746540542	p.Ala343Thr	missense variant	-	NC_000017.11:g.65541487C>T	ExAC,gnomAD
rs878854715	p.Asn344Ser	missense variant	-	NC_000017.11:g.65541483T>C	TOPMed,gnomAD
rs779669781	p.Ser348Cys	missense variant	-	NC_000017.11:g.65541471G>C	ExAC,TOPMed,gnomAD
rs142726686	p.Ser348Thr	missense variant	-	NC_000017.11:g.65541472A>T	ESP,TOPMed
rs876661230	p.Leu349Pro	missense variant	-	NC_000017.11:g.65541468A>G	-
rs1447816369	p.Leu349Ile	missense variant	-	NC_000017.11:g.65541469G>T	TOPMed
rs1447816369	p.Leu349Val	missense variant	-	NC_000017.11:g.65541469G>C	TOPMed
COSM273540	p.Leu349SerPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.65541469_65541470insA	NCI-TCGA Cosmic
rs1434576661	p.Pro350Leu	missense variant	-	NC_000017.11:g.65541465G>A	gnomAD
rs771677461	p.Pro353Leu	missense variant	-	NC_000017.11:g.65541456G>A	ExAC,TOPMed,gnomAD
rs906309952	p.Arg354Lys	missense variant	-	NC_000017.11:g.65538342C>T	TOPMed
NCI-TCGA novel	p.Arg354Ter	stop gained	-	NC_000017.11:g.65538343T>A	NCI-TCGA
rs1555578556	p.Thr355Ile	missense variant	-	NC_000017.11:g.65538339G>A	-
rs755884266	p.Arg357Cys	missense variant	-	NC_000017.11:g.65538334G>A	ExAC,TOPMed,gnomAD
rs8081536	p.Arg357His	missense variant	-	NC_000017.11:g.65538333C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1377592999	p.Lys360Glu	missense variant	-	NC_000017.11:g.65538325T>C	TOPMed
rs146249973	p.Lys360Arg	missense variant	-	NC_000017.11:g.65538324T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750414544	p.Met362Ile	missense variant	-	NC_000017.11:g.65538317C>A	ExAC,gnomAD
rs761901627	p.Val365Leu	missense variant	-	NC_000017.11:g.65538310C>G	ExAC,gnomAD
rs761901627	p.Val365Met	missense variant	-	NC_000017.11:g.65538310C>T	ExAC,gnomAD
rs764414708	p.Glu366Gly	missense variant	-	NC_000017.11:g.65538306T>C	ExAC,gnomAD
rs1330131800	p.Pro367His	missense variant	-	NC_000017.11:g.65538303G>T	gnomAD
rs1480983759	p.Ala368Gly	missense variant	-	NC_000017.11:g.65538300G>C	TOPMed,gnomAD
rs772636882	p.Ala368Thr	missense variant	-	NC_000017.11:g.65538301C>T	ExAC,gnomAD
rs1480983759	p.Ala368Val	missense variant	-	NC_000017.11:g.65538300G>A	TOPMed,gnomAD
COSM6081720	p.Ala368Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65538301C>G	NCI-TCGA Cosmic
rs759128363	p.Thr369Ala	missense variant	-	NC_000017.11:g.65538298T>C	ExAC,TOPMed,gnomAD
rs759128363	p.Thr369Pro	missense variant	-	NC_000017.11:g.65538298T>G	ExAC,TOPMed,gnomAD
rs898166595	p.Thr369Ile	missense variant	-	NC_000017.11:g.65538297G>A	TOPMed
rs1555578525	p.Ala371Thr	missense variant	-	NC_000017.11:g.65538292C>T	-
rs748945736	p.Ile375Met	missense variant	-	NC_000017.11:g.65538278G>C	ExAC,TOPMed,gnomAD
rs770644676	p.Ile375Thr	missense variant	-	NC_000017.11:g.65538279A>G	ExAC,gnomAD
rs770644676	p.Ile375Ser	missense variant	-	NC_000017.11:g.65538279A>C	ExAC,gnomAD
rs772908702	p.Ser376Trp	missense variant	-	NC_000017.11:g.65538276G>C	ExAC,TOPMed,gnomAD
rs772908702	p.Ser376Leu	missense variant	-	NC_000017.11:g.65538276G>A	ExAC,TOPMed,gnomAD
rs1555578512	p.Arg377Lys	missense variant	-	NC_000017.11:g.65538273C>T	-
rs1555578508	p.Leu378Val	missense variant	-	NC_000017.11:g.65538271G>C	-
rs878854717	p.Lys382Arg	missense variant	-	NC_000017.11:g.65538258T>C	-
rs1555578490	p.Glu384Gly	missense variant	-	NC_000017.11:g.65538252T>C	-
NCI-TCGA novel	p.Glu386Ter	stop gained	-	NC_000017.11:g.65538247C>A	NCI-TCGA
rs1173549577	p.Glu386Gln	missense variant	-	NC_000017.11:g.65538247C>G	TOPMed
rs368502813	p.Arg388His	missense variant	-	NC_000017.11:g.65538240C>T	ESP,ExAC,TOPMed,gnomAD
rs886053273	p.Arg388Cys	missense variant	-	NC_000017.11:g.65538241G>A	-
rs368502813	p.Arg388Leu	missense variant	-	NC_000017.11:g.65538240C>A	ESP,ExAC,TOPMed,gnomAD
rs1060502142	p.His389Pro	missense variant	-	NC_000017.11:g.65538237T>G	gnomAD
rs1060502142	p.His389Arg	missense variant	-	NC_000017.11:g.65538237T>C	gnomAD
rs139871607	p.Ser390Gly	missense variant	-	NC_000017.11:g.65538235T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778900546	p.Ser390Ile	missense variant	-	NC_000017.11:g.65538234C>A	ExAC,gnomAD
rs778900546	p.Ser390Asn	missense variant	-	NC_000017.11:g.65538234C>T	ExAC,gnomAD
rs370821074	p.Leu391Pro	missense variant	-	NC_000017.11:g.65538231A>G	ESP,ExAC
rs1555578459	p.Glu393Lys	missense variant	-	NC_000017.11:g.65538226C>T	-
rs922684515	p.Glu393Asp	missense variant	-	NC_000017.11:g.65538224C>G	TOPMed,gnomAD
rs200899695	p.Arg394His	missense variant	-	NC_000017.11:g.65538222C>T	ExAC,TOPMed,gnomAD
rs753049092	p.Arg394Cys	missense variant	-	NC_000017.11:g.65538223G>A	ExAC,gnomAD
rs373087123	p.Leu395Val	missense variant	-	NC_000017.11:g.65538220G>C	ESP,TOPMed,gnomAD
rs1555578450	p.Leu395Pro	missense variant	-	NC_000017.11:g.65538219A>G	-
rs914102463	p.Gln396Leu	missense variant	-	NC_000017.11:g.65538216T>A	TOPMed
rs759917468	p.Gln396Glu	missense variant	-	NC_000017.11:g.65538217G>C	ExAC,gnomAD
rs774887154	p.Gln397Arg	missense variant	-	NC_000017.11:g.65538213T>C	ExAC,gnomAD
rs1360433499	p.Gln397His	missense variant	-	NC_000017.11:g.65538212C>G	TOPMed,gnomAD
rs1157452251	p.Arg399Ter	stop gained	-	NC_000017.11:g.65538208G>A	gnomAD
rs765865516	p.Arg399Gln	missense variant	-	NC_000017.11:g.65538207C>T	ExAC,gnomAD
rs989632217	p.Glu400Gln	missense variant	-	NC_000017.11:g.65538205C>G	TOPMed,gnomAD
rs762522074	p.Glu400Gly	missense variant	-	NC_000017.11:g.65538204T>C	ExAC,TOPMed,gnomAD
rs772221969	p.Asp401Val	missense variant	-	NC_000017.11:g.65537834T>A	ExAC,gnomAD
rs772221969	p.Asp401Gly	missense variant	-	NC_000017.11:g.65537834T>C	ExAC,gnomAD
rs1555578158	p.Glu402Gly	missense variant	-	NC_000017.11:g.65537831T>C	-
rs774657791	p.Glu403Asp	missense variant	-	NC_000017.11:g.65537827C>A	ExAC,gnomAD
rs774657791	p.Glu403Asp	missense variant	-	NC_000017.11:g.65537827C>G	ExAC,gnomAD
rs1196309364	p.Glu403Lys	missense variant	-	NC_000017.11:g.65537829C>T	gnomAD
rs1196309364	p.Glu403Gln	missense variant	-	NC_000017.11:g.65537829C>G	gnomAD
rs376701878	p.Glu405Ala	missense variant	-	NC_000017.11:g.65537822T>G	ESP,ExAC,gnomAD
rs771001164	p.Glu405GlyPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.65537821_65537822CT>-	NCI-TCGA,NCI-TCGA Cosmic
rs1487575935	p.Gly406Val	missense variant	-	NC_000017.11:g.65537819C>A	gnomAD
NCI-TCGA novel	p.Gly406ArgPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.65537820_65537821insCT	NCI-TCGA
rs1205776646	p.Ser407Ala	missense variant	-	NC_000017.11:g.65537817A>C	gnomAD
rs1349969629	p.Ser407Phe	missense variant	-	NC_000017.11:g.65537816G>A	TOPMed
rs749846538	p.Glu408Lys	missense variant	-	NC_000017.11:g.65537814C>T	ExAC,gnomAD
rs1555578122	p.Leu409Val	missense variant	-	NC_000017.11:g.65537811G>C	-
NCI-TCGA novel	p.Leu409Ile	missense variant	-	NC_000017.11:g.65537811G>T	NCI-TCGA
COSM3521037	p.Leu409Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65537811G>A	NCI-TCGA Cosmic
rs1265240757	p.Thr410Ala	missense variant	-	NC_000017.11:g.65537808T>C	TOPMed
rs1555578117	p.Thr410Ile	missense variant	-	NC_000017.11:g.65537807G>A	-
rs115931022	p.Asn412Ser	missense variant	-	NC_000017.11:g.65537801T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs115931022	p.Asn412Thr	missense variant	-	NC_000017.11:g.65537801T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1399215718	p.Ser413Leu	missense variant	-	NC_000017.11:g.65537798G>A	gnomAD
rs758255310	p.Arg414Leu	missense variant	-	NC_000017.11:g.65537795C>A	ExAC,TOPMed,gnomAD
rs751229839	p.Arg414Trp	missense variant	-	NC_000017.11:g.65537796G>A	ExAC,gnomAD
rs758255310	p.Arg414Gln	missense variant	-	NC_000017.11:g.65537795C>T	ExAC,TOPMed,gnomAD
rs1170393408	p.Glu415Gly	missense variant	-	NC_000017.11:g.65537792T>C	gnomAD
rs1470769065	p.Glu415Asp	missense variant	-	NC_000017.11:g.65537791C>A	gnomAD
rs765015663	p.Gly416Arg	missense variant	-	NC_000017.11:g.65537790C>G	ExAC,gnomAD
rs1170381329	p.Gly416Val	missense variant	-	NC_000017.11:g.65537789C>A	gnomAD
rs1170381329	p.Gly416Glu	missense variant	-	NC_000017.11:g.65537789C>T	gnomAD
rs201460658	p.Ala417Val	missense variant	-	NC_000017.11:g.65537786G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM1385331	p.Ala417ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.65537787C>-	NCI-TCGA Cosmic
COSM5143807	p.Pro418Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65537784G>A	NCI-TCGA Cosmic
rs759790948	p.Thr419Met	missense variant	-	NC_000017.11:g.65537780G>A	ExAC
rs1555578074	p.Gln420Glu	missense variant	-	NC_000017.11:g.65537778G>C	-
rs774530969	p.Gln420Pro	missense variant	-	NC_000017.11:g.65537777T>G	ExAC,gnomAD
rs771340546	p.Gln420His	missense variant	-	NC_000017.11:g.65537776C>A	ExAC,TOPMed,gnomAD
rs774530969	p.Gln420Arg	missense variant	-	NC_000017.11:g.65537777T>C	ExAC,gnomAD
rs1441857871	p.His421Tyr	missense variant	-	NC_000017.11:g.65537775G>A	TOPMed,gnomAD
rs878854718	p.Pro422Ser	missense variant	-	NC_000017.11:g.65537772G>A	TOPMed,gnomAD
rs878854718	p.Pro422Thr	missense variant	-	NC_000017.11:g.65537772G>T	TOPMed,gnomAD
rs878854718	p.Pro422Ala	missense variant	-	NC_000017.11:g.65537772G>C	TOPMed,gnomAD
rs376630432	p.Leu423Phe	missense variant	-	NC_000017.11:g.65537769G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376630432	p.Leu423Val	missense variant	-	NC_000017.11:g.65537769G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780894296	p.Ser424Phe	missense variant	-	NC_000017.11:g.65537765G>A	ExAC
rs878854719	p.Leu425Pro	missense variant	-	NC_000017.11:g.65537762A>G	-
rs1309062534	p.Pro427Leu	missense variant	-	NC_000017.11:g.65537756G>A	TOPMed
rs1426652719	p.Ser428Cys	missense variant	-	NC_000017.11:g.65537753G>C	gnomAD
rs573134328	p.Ser428Pro	missense variant	-	NC_000017.11:g.65537754A>G	-
rs773119996	p.Gly429Ser	missense variant	-	NC_000017.11:g.65537751C>T	ExAC,TOPMed,gnomAD
rs773119996	p.Gly429Cys	missense variant	-	NC_000017.11:g.65537751C>A	ExAC,TOPMed,gnomAD
rs202215840	p.Ser430Thr	missense variant	-	NC_000017.11:g.65537747C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs202215840	p.Ser430Asn	missense variant	-	NC_000017.11:g.65537747C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs372987093	p.Tyr431Asn	missense variant	-	NC_000017.11:g.65537745A>T	ESP,ExAC,TOPMed
rs866813817	p.Tyr431Cys	missense variant	-	NC_000017.11:g.65537744T>C	gnomAD
rs751843834	p.Glu432Lys	missense variant	-	NC_000017.11:g.65537742C>T	ExAC,TOPMed,gnomAD
rs1472777958	p.Glu433Val	missense variant	-	NC_000017.11:g.65537738T>A	TOPMed,gnomAD
rs1168951676	p.Glu433Gln	missense variant	-	NC_000017.11:g.65537739C>G	gnomAD
NCI-TCGA novel	p.Pro435Leu	missense variant	-	NC_000017.11:g.65537732G>A	NCI-TCGA
rs1451720453	p.Pro435Ser	missense variant	-	NC_000017.11:g.65537733G>A	TOPMed
rs1445382048	p.Thr437Ser	missense variant	-	NC_000017.11:g.65537727T>A	gnomAD
rs1555577991	p.Asp441Asn	missense variant	-	NC_000017.11:g.65537715C>T	-
rs1274892456	p.Asp441Gly	missense variant	-	NC_000017.11:g.65537714T>C	gnomAD
rs1363731706	p.Leu447Phe	missense variant	-	NC_000017.11:g.65537697G>A	TOPMed
rs1247527031	p.Thr449Ser	missense variant	-	NC_000017.11:g.65537690G>C	gnomAD
NCI-TCGA novel	p.Pro450His	missense variant	-	NC_000017.11:g.65537687G>T	NCI-TCGA
rs777265234	p.Pro450Leu	missense variant	-	NC_000017.11:g.65537687G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly451Asp	missense variant	-	NC_000017.11:g.65537684C>T	NCI-TCGA
rs768349653	p.Gly451Ala	missense variant	-	NC_000017.11:g.65537684C>G	ExAC,gnomAD
rs1439603213	p.Gly451Ser	missense variant	-	NC_000017.11:g.65537685C>T	gnomAD
rs779863826	p.Pro455Ser	missense variant	-	NC_000017.11:g.65537673G>A	ExAC,TOPMed,gnomAD
rs779863826	p.Pro455Ala	missense variant	-	NC_000017.11:g.65537673G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro455Leu	missense variant	-	NC_000017.11:g.65537672G>A	NCI-TCGA
rs1060502144	p.Gly456Ala	missense variant	-	NC_000017.11:g.65537669C>G	-
rs1450569717	p.Val457Ala	missense variant	-	NC_000017.11:g.65537666A>G	TOPMed
rs778612433	p.Val457Ile	missense variant	-	NC_000017.11:g.65537667C>T	ExAC,TOPMed,gnomAD
rs753827256	p.Gly458Cys	missense variant	-	NC_000017.11:g.65537664C>A	ExAC,gnomAD
rs1233713623	p.Gly458Asp	missense variant	-	NC_000017.11:g.65537663C>T	TOPMed,gnomAD
rs777680532	p.Arg459Gly	missense variant	-	NC_000017.11:g.65537661G>C	ExAC,gnomAD
rs368525111	p.Arg459Leu	missense variant	-	NC_000017.11:g.65537660C>A	ESP,ExAC,TOPMed,gnomAD
rs368525111	p.Arg459His	missense variant	-	NC_000017.11:g.65537660C>T	ESP,ExAC,TOPMed,gnomAD
rs777680532	p.Arg459Cys	missense variant	-	NC_000017.11:g.65537661G>A	ExAC,gnomAD
rs368525111	p.Arg459Pro	missense variant	-	NC_000017.11:g.65537660C>G	ESP,ExAC,TOPMed,gnomAD
rs777680532	p.Arg459Ser	missense variant	-	NC_000017.11:g.65537661G>T	ExAC,gnomAD
rs1032366089	p.Tyr460Cys	missense variant	-	NC_000017.11:g.65537657T>C	TOPMed,gnomAD
rs1359477325	p.Ser461Ile	missense variant	-	NC_000017.11:g.65537654C>A	gnomAD
rs1555577922	p.ProArg462ProCys	missense variant	-	NC_000017.11:g.65537649_65537650delinsAA	-
rs1060502156	p.Pro462Thr	missense variant	-	NC_000017.11:g.65537652G>T	TOPMed,gnomAD
rs1060502156	p.Pro462Ser	missense variant	-	NC_000017.11:g.65537652G>A	TOPMed,gnomAD
rs758592586	p.Pro462His	missense variant	-	NC_000017.11:g.65537651G>T	ExAC,gnomAD
rs730881395	p.Arg463Cys	missense variant	-	NC_000017.11:g.65537649G>A	ExAC,TOPMed,gnomAD
rs1060502150	p.Arg463Pro	missense variant	-	NC_000017.11:g.65537648C>G	TOPMed,gnomAD
rs1060502150	p.Arg463His	missense variant	-	NC_000017.11:g.65537648C>T	TOPMed,gnomAD
rs730881395	p.Arg463Gly	missense variant	-	NC_000017.11:g.65537649G>C	ExAC,TOPMed,gnomAD
rs777283610	p.Ser464Phe	missense variant	-	NC_000017.11:g.65537645G>A	ExAC,TOPMed,gnomAD
rs762233852	p.Ser464Pro	missense variant	-	NC_000017.11:g.65537646A>G	ExAC
rs764640447	p.Arg465His	missense variant	-	NC_000017.11:g.65537642C>T	ExAC,TOPMed,gnomAD
rs886041137	p.Arg465Ser	missense variant	-	NC_000017.11:g.65537643G>T	gnomAD
rs886041137	p.Arg465Cys	missense variant	-	NC_000017.11:g.65537643G>A	gnomAD
rs764640447	p.Arg465Leu	missense variant	-	NC_000017.11:g.65537642C>A	ExAC,TOPMed,gnomAD
rs1064793954	p.Ser466Cys	missense variant	-	NC_000017.11:g.65537639G>C	gnomAD
rs1064793954	p.Ser466Phe	missense variant	-	NC_000017.11:g.65537639G>A	gnomAD
rs908388069	p.Pro467Leu	missense variant	-	NC_000017.11:g.65537636G>A	TOPMed,gnomAD
rs1477541377	p.Asp468Asn	missense variant	-	NC_000017.11:g.65537634C>T	gnomAD
rs1266538607	p.His469Tyr	missense variant	-	NC_000017.11:g.65537631G>A	gnomAD
rs745555433	p.His469Arg	missense variant	-	NC_000017.11:g.65537630T>C	ExAC,gnomAD
rs544255284	p.His471Tyr	missense variant	-	NC_000017.11:g.65537625G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs749012756	p.His472Arg	missense variant	-	NC_000017.11:g.65537621T>C	ExAC,gnomAD
rs777699064	p.His473Tyr	missense variant	-	NC_000017.11:g.65537619G>A	ExAC,gnomAD
rs756008626	p.His474Arg	missense variant	-	NC_000017.11:g.65537615T>C	ExAC,gnomAD
rs1060502132	p.His474Tyr	missense variant	-	NC_000017.11:g.65537616G>A	TOPMed,gnomAD
rs950007141	p.Ser475Trp	missense variant	-	NC_000017.11:g.65537612G>C	gnomAD
NCI-TCGA novel	p.Ser475PhePheSerTerUnkUnkUnk	frameshift	-	NC_000017.11:g.65537612_65537613insA	NCI-TCGA
rs950007141	p.Ser475Leu	missense variant	-	NC_000017.11:g.65537612G>A	gnomAD
NCI-TCGA novel	p.Gln476SerPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.65537610_65537611insCTACT	NCI-TCGA
rs1285545891	p.Gln476His	missense variant	-	NC_000017.11:g.65537608C>G	TOPMed,gnomAD
rs1555577851	p.Tyr477His	missense variant	-	NC_000017.11:g.65537607A>G	-
rs1405985775	p.His478Arg	missense variant	-	NC_000017.11:g.65537603T>C	gnomAD
rs137933764	p.Ser479Tyr	missense variant	-	NC_000017.11:g.65537600G>T	ESP,ExAC,TOPMed,gnomAD
rs1555577842	p.Leu481Pro	missense variant	-	NC_000017.11:g.65537594A>G	-
rs1345875693	p.Leu481Phe	missense variant	-	NC_000017.11:g.65537595G>A	gnomAD
rs758495825	p.Pro482Leu	missense variant	-	NC_000017.11:g.65537591G>A	ExAC,TOPMed,gnomAD
rs530465133	p.Pro483His	missense variant	-	NC_000017.11:g.65537588G>T	1000Genomes,TOPMed,gnomAD
rs530465133	p.Pro483Arg	missense variant	-	NC_000017.11:g.65537588G>C	1000Genomes,TOPMed,gnomAD
rs1555577827	p.Pro483Ser	missense variant	-	NC_000017.11:g.65537589G>A	-
rs371446806	p.Gly484Ser	missense variant	-	NC_000017.11:g.65537586C>T	ESP,ExAC,TOPMed,gnomAD
rs754204017	p.Leu487Val	missense variant	-	NC_000017.11:g.65537577G>C	ExAC,TOPMed,gnomAD
rs1555577817	p.Leu487Gln	missense variant	-	NC_000017.11:g.65537576A>T	-
rs764728243	p.Pro489Ser	missense variant	-	NC_000017.11:g.65537571G>A	ExAC,gnomAD
COSM3890203	p.Pro489Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65537570G>A	NCI-TCGA Cosmic
rs1242238043	p.Ala490Val	missense variant	-	NC_000017.11:g.65537567G>A	TOPMed,gnomAD
rs1486551074	p.Ala490Thr	missense variant	-	NC_000017.11:g.65537568C>T	TOPMed,gnomAD
rs1064794048	p.Ala491Val	missense variant	-	NC_000017.11:g.65537564G>A	-
rs761303245	p.Ala491Thr	missense variant	-	NC_000017.11:g.65537565C>T	ExAC,gnomAD
rs1555577797	p.Ala492Pro	missense variant	-	NC_000017.11:g.65537562C>G	-
rs367697282	p.Ser493Leu	missense variant	-	NC_000017.11:g.65537558G>A	ESP,ExAC,TOPMed,gnomAD
rs367697282	p.Ser493Trp	missense variant	-	NC_000017.11:g.65537558G>C	ESP,ExAC,TOPMed,gnomAD
rs730881396	p.Pro494Arg	missense variant	-	NC_000017.11:g.65537555G>C	ExAC,TOPMed,gnomAD
rs730881396	p.Pro494Leu	missense variant	-	NC_000017.11:g.65537555G>A	ExAC,TOPMed,gnomAD
rs372513593	p.Gly495Ser	missense variant	-	NC_000017.11:g.65537553C>T	-
rs1408492605	p.Ala496Asp	missense variant	-	NC_000017.11:g.65537549G>T	gnomAD
rs773033390	p.Ala496Thr	missense variant	-	NC_000017.11:g.65537550C>T	ExAC,gnomAD
rs773033390	p.Ala496Ser	missense variant	-	NC_000017.11:g.65537550C>A	ExAC,gnomAD
rs769558841	p.Cys497Tyr	missense variant	-	NC_000017.11:g.65537546C>T	ExAC
rs1555577765	p.Pro498Arg	missense variant	-	NC_000017.11:g.65537543G>C	-
rs1279915902	p.Pro498Ser	missense variant	-	NC_000017.11:g.65537544G>A	TOPMed
rs1168199442	p.Leu499Val	missense variant	-	NC_000017.11:g.65537541G>C	gnomAD
rs781185996	p.Leu499Pro	missense variant	-	NC_000017.11:g.65537540A>G	ExAC,gnomAD
COSM1385329	p.Leu499ProPheSerTerUnkUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.65537540_65537541insG	NCI-TCGA Cosmic
rs758413474	p.Leu500Arg	missense variant	-	NC_000017.11:g.65537537A>C	ExAC,TOPMed,gnomAD
rs779029020	p.Gly501Val	missense variant	-	NC_000017.11:g.65537534C>A	ExAC,TOPMed,gnomAD
rs779029020	p.Gly501Glu	missense variant	-	NC_000017.11:g.65537534C>T	ExAC,TOPMed,gnomAD
rs978541876	p.Gly502Cys	missense variant	-	NC_000017.11:g.65537532C>A	-
rs754079144	p.Gly504Asp	missense variant	-	NC_000017.11:g.65537525C>T	ExAC,TOPMed,gnomAD
rs757512425	p.Gly504Arg	missense variant	-	NC_000017.11:g.65537526C>G	ExAC,TOPMed,gnomAD
rs757512425	p.Gly504Ser	missense variant	-	NC_000017.11:g.65537526C>T	ExAC,TOPMed,gnomAD
rs1250017056	p.Val506Met	missense variant	-	NC_000017.11:g.65537520C>T	gnomAD
rs1207102247	p.Thr507Ile	missense variant	-	NC_000017.11:g.65537516G>A	gnomAD
rs778327226	p.Gln509Arg	missense variant	-	NC_000017.11:g.65537510T>C	ExAC,gnomAD
rs367938045	p.Thr510Met	missense variant	-	NC_000017.11:g.65537507G>A	ESP,ExAC,gnomAD
rs376936740	p.Thr511Ser	missense variant	-	NC_000017.11:g.65537505T>A	ESP,ExAC,TOPMed,gnomAD
rs376936740	p.Thr511Ala	missense variant	-	NC_000017.11:g.65537505T>C	ESP,ExAC,TOPMed,gnomAD
rs200883019	p.Thr511Met	missense variant	-	NC_000017.11:g.65537504G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1235854145	p.Lys512Asn	missense variant	-	NC_000017.11:g.65537500C>A	TOPMed
rs1274418296	p.His515Tyr	missense variant	-	NC_000017.11:g.65537493G>A	TOPMed,gnomAD
rs864622657	p.His516Arg	missense variant	-	NC_000017.11:g.65537489T>C	gnomAD
rs864622657	p.His516Pro	missense variant	-	NC_000017.11:g.65537489T>G	gnomAD
rs1555577714	p.His516Tyr	missense variant	-	NC_000017.11:g.65537490G>A	-
rs769644525	p.His517Leu	missense variant	-	NC_000017.11:g.65537486T>A	ExAC,gnomAD
rs1209270565	p.His517Tyr	missense variant	-	NC_000017.11:g.65537487G>A	TOPMed
rs769644525	p.His517Arg	missense variant	-	NC_000017.11:g.65537486T>C	ExAC,gnomAD
rs368289818	p.Tyr518Cys	missense variant	-	NC_000017.11:g.65537483T>C	ESP,ExAC,TOPMed,gnomAD
rs761534462	p.Tyr518Asn	missense variant	-	NC_000017.11:g.65537484A>T	ExAC,gnomAD
rs146769008	p.Ile519Leu	missense variant	-	NC_000017.11:g.65537481T>G	ESP,TOPMed,gnomAD
rs146769008	p.Ile519Val	missense variant	-	NC_000017.11:g.65537481T>C	ESP,TOPMed,gnomAD
rs374444786	p.Ile519Met	missense variant	-	NC_000017.11:g.65537479G>C	ESP,ExAC,TOPMed,gnomAD
rs1060502128	p.His522Asp	missense variant	-	NC_000017.11:g.65537472G>C	TOPMed
rs1555577694	p.Ala523Thr	missense variant	-	NC_000017.11:g.65537469C>T	-
NCI-TCGA novel	p.Val524Asp	missense variant	-	NC_000017.11:g.65537465A>T	NCI-TCGA
rs1333327285	p.Val524Gly	missense variant	-	NC_000017.11:g.65537465A>C	gnomAD
rs749576519	p.Pro525Leu	missense variant	-	NC_000017.11:g.65537462G>A	ExAC,gnomAD
rs73346297	p.Pro525Ala	missense variant	-	NC_000017.11:g.65537463G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749576519	p.Pro525Arg	missense variant	-	NC_000017.11:g.65537462G>C	ExAC,gnomAD
rs778137043	p.Lys526Arg	missense variant	-	NC_000017.11:g.65537459T>C	ExAC,gnomAD
rs1555577678	p.Lys526Asn	missense variant	-	NC_000017.11:g.65537458C>G	-
rs1435184211	p.Thr527Ile	missense variant	-	NC_000017.11:g.65537456G>A	TOPMed
rs878854722	p.Lys528Arg	missense variant	-	NC_000017.11:g.65537453T>C	gnomAD
rs756551019	p.Lys528Glu	missense variant	-	NC_000017.11:g.65537454T>C	ExAC,gnomAD
rs1060502133	p.Glu529Gly	missense variant	-	NC_000017.11:g.65537450T>C	-
rs753046140	p.Glu530Ala	missense variant	-	NC_000017.11:g.65537447T>G	ExAC,gnomAD
rs755551294	p.Glu532Lys	missense variant	-	NC_000017.11:g.65537442C>T	ExAC,gnomAD
rs368522825	p.Glu532Asp	missense variant	-	NC_000017.11:g.65537440C>G	gnomAD
rs755551294	p.Glu532Ter	stop gained	-	NC_000017.11:g.65537442C>A	ExAC,gnomAD
rs147716924	p.Ala533Val	missense variant	-	NC_000017.11:g.65537438G>A	ESP,ExAC,TOPMed,gnomAD
rs1376819064	p.Ala533Thr	missense variant	-	NC_000017.11:g.65537439C>T	TOPMed
rs1392915734	p.Ala535Thr	missense variant	-	NC_000017.11:g.65537433C>T	gnomAD
rs1373860602	p.Thr536Ser	missense variant	-	NC_000017.11:g.65537430T>A	gnomAD
rs750084404	p.Thr536Met	missense variant	-	NC_000017.11:g.65537429G>A	ExAC,gnomAD
rs1428503249	p.Gln537Glu	missense variant	-	NC_000017.11:g.65537427G>C	TOPMed
rs761539571	p.Arg538Trp	missense variant	-	NC_000017.11:g.65537424G>A	ExAC,gnomAD
rs761539571	p.Arg538Gly	missense variant	-	NC_000017.11:g.65537424G>C	ExAC,gnomAD
rs1064793764	p.Arg538Pro	missense variant	-	NC_000017.11:g.65537423C>G	TOPMed,gnomAD
rs1064793764	p.Arg538Gln	missense variant	-	NC_000017.11:g.65537423C>T	TOPMed,gnomAD
rs9913621	p.Val539Leu	missense variant	-	NC_000017.11:g.65537421C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs9913621	p.Val539Met	missense variant	-	NC_000017.11:g.65537421C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs573731155	p.His540Asn	missense variant	-	NC_000017.11:g.65537418G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1330822418	p.His540Arg	missense variant	-	NC_000017.11:g.65537417T>C	TOPMed
rs900138742	p.His540Gln	missense variant	-	NC_000017.11:g.65537416G>C	TOPMed
rs760712196	p.Cys541Arg	missense variant	-	NC_000017.11:g.65537415A>G	ExAC,gnomAD
rs771197210	p.Phe542Val	missense variant	-	NC_000017.11:g.65537412A>C	ExAC,gnomAD
rs749312775	p.Cys543Tyr	missense variant	-	NC_000017.11:g.65537408C>T	ExAC,TOPMed,gnomAD
rs749312775	p.Cys543Phe	missense variant	-	NC_000017.11:g.65537408C>A	ExAC,TOPMed,gnomAD
rs778153491	p.Pro544Ser	missense variant	-	NC_000017.11:g.65537406G>A	ExAC,TOPMed,gnomAD
rs1060502139	p.Pro544Leu	missense variant	-	NC_000017.11:g.65537405G>A	TOPMed,gnomAD
rs781658851	p.Gly545Ala	missense variant	-	NC_000017.11:g.65537402C>G	ExAC,TOPMed,gnomAD
rs148951121	p.Gly545Trp	missense variant	-	NC_000017.11:g.65537403C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs148951121	p.Gly545Arg	missense variant	-	NC_000017.11:g.65537403C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs781658851	p.Gly545Glu	missense variant	-	NC_000017.11:g.65537402C>T	ExAC,TOPMed,gnomAD
rs145717795	p.Gly546Asp	missense variant	-	NC_000017.11:g.65537399C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145717795	p.Gly546Val	missense variant	-	NC_000017.11:g.65537399C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780472818	p.Gly546Ser	missense variant	-	NC_000017.11:g.65537400C>T	ExAC,gnomAD
rs780472818	p.Gly546Cys	missense variant	-	NC_000017.11:g.65537400C>A	ExAC,gnomAD
rs764903794	p.Ser547Asn	missense variant	-	NC_000017.11:g.65537396C>T	ExAC,gnomAD
rs764903794	p.Ser547Thr	missense variant	-	NC_000017.11:g.65537396C>G	ExAC,gnomAD
rs753407346	p.Glu548Gly	missense variant	-	NC_000017.11:g.65537393T>C	ExAC,gnomAD
rs367624903	p.Glu548Lys	missense variant	-	NC_000017.11:g.65537394C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu548AspPheSerTerUnkUnkUnk	frameshift	-	NC_000017.11:g.65537392C>-	NCI-TCGA
rs367624903	p.Glu548Ter	stop gained	-	NC_000017.11:g.65537394C>A	ESP,ExAC,TOPMed,gnomAD
rs1369622684	p.Tyr549Cys	missense variant	-	NC_000017.11:g.65537390T>C	TOPMed
rs571713474	p.Tyr550Asp	missense variant	-	NC_000017.11:g.65537388A>C	1000Genomes,ExAC,gnomAD
rs730881398	p.Cys551Arg	missense variant	-	NC_000017.11:g.65537385A>G	ExAC,TOPMed,gnomAD
rs1290240825	p.Tyr552Cys	missense variant	-	NC_000017.11:g.65537381T>C	gnomAD
rs1453965356	p.Ser553Leu	missense variant	-	NC_000017.11:g.65537378G>A	TOPMed,gnomAD
rs1453965356	p.Ser553Trp	missense variant	-	NC_000017.11:g.65537378G>C	TOPMed,gnomAD
rs1481627494	p.Cys555Arg	missense variant	-	NC_000017.11:g.65537373A>G	gnomAD
rs562421443	p.Cys555Trp	missense variant	-	NC_000017.11:g.65537371G>C	ExAC,TOPMed,gnomAD
rs1224506094	p.Cys555Tyr	missense variant	-	NC_000017.11:g.65537372C>T	TOPMed,gnomAD
rs1555577588	p.His558Leu	missense variant	-	NC_000017.11:g.65537363T>A	-
NCI-TCGA novel	p.Ser559Thr	missense variant	-	NC_000017.11:g.65537361A>T	NCI-TCGA
rs1060502126	p.Ser559Cys	missense variant	-	NC_000017.11:g.65537360G>C	gnomAD
rs769741903	p.Lys560Thr	missense variant	-	NC_000017.11:g.65537357T>G	ExAC,gnomAD
rs1444558946	p.Ala561Val	missense variant	-	NC_000017.11:g.65537354G>A	gnomAD
rs1461001184	p.Pro562Ser	missense variant	-	NC_000017.11:g.65537352G>A	TOPMed,gnomAD
rs149764887	p.Pro562Leu	missense variant	-	NC_000017.11:g.65537351G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139414862	p.Thr564Ala	missense variant	-	NC_000017.11:g.65537346T>C	ESP,ExAC,gnomAD
rs534983760	p.Met565Lys	missense variant	-	NC_000017.11:g.65537342A>T	1000Genomes,ExAC,gnomAD
rs534983760	p.Met565Thr	missense variant	-	NC_000017.11:g.65537342A>G	1000Genomes,ExAC,gnomAD
rs886041138	p.Met565Ile	missense variant	-	NC_000017.11:g.65537341C>T	TOPMed
rs1297040678	p.Phe570Ser	missense variant	-	NC_000017.11:g.65537327A>G	gnomAD
rs373442399	p.Phe570Val	missense variant	-	NC_000017.11:g.65537328A>C	ESP,ExAC,TOPMed,gnomAD
rs146744662	p.Gly571Asp	missense variant	-	NC_000017.11:g.65537324C>T	ESP,ExAC,TOPMed,gnomAD
rs753824435	p.Gly572Cys	missense variant	-	NC_000017.11:g.65537062C>A	ExAC,TOPMed,gnomAD
rs753824435	p.Gly572Ser	missense variant	-	NC_000017.11:g.65537062C>T	ExAC,TOPMed,gnomAD
rs1165490589	p.Ser573Asn	missense variant	-	NC_000017.11:g.65537058C>T	gnomAD
rs1425391968	p.Arg574Lys	missense variant	-	NC_000017.11:g.65537055C>T	gnomAD
rs1425391968	p.Arg574Thr	missense variant	-	NC_000017.11:g.65537055C>G	gnomAD
rs764205632	p.Ser576Asn	missense variant	-	NC_000017.11:g.65537049C>T	ExAC,gnomAD
rs764205632	p.Ser576Thr	missense variant	-	NC_000017.11:g.65537049C>G	ExAC,gnomAD
rs760939811	p.Thr577Ile	missense variant	-	NC_000017.11:g.65537046G>A	ExAC,gnomAD
rs775673863	p.Leu578Phe	missense variant	-	NC_000017.11:g.65537042C>A	ExAC,gnomAD
rs1234437759	p.Pro579Ser	missense variant	-	NC_000017.11:g.65537041G>A	gnomAD
rs772490357	p.Lys580Arg	missense variant	-	NC_000017.11:g.65537037T>C	ExAC,TOPMed,gnomAD
rs759825875	p.Arg581Cys	missense variant	-	NC_000017.11:g.65537035G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg581ThrPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.65537035_65537036insT	NCI-TCGA
rs730881399	p.Arg581His	missense variant	-	NC_000017.11:g.65537034C>T	gnomAD
rs567511335	p.Asn582Asp	missense variant	-	NC_000017.11:g.65537032T>C	ExAC,TOPMed,gnomAD
rs567511335	p.Asn582His	missense variant	-	NC_000017.11:g.65537032T>G	ExAC,TOPMed,gnomAD
rs748860876	p.Gly583Arg	missense variant	-	NC_000017.11:g.65537029C>T	ExAC,TOPMed,gnomAD
rs777186938	p.Gly583Glu	missense variant	-	NC_000017.11:g.65537028C>T	ExAC,gnomAD
rs769404267	p.Lys584Thr	missense variant	-	NC_000017.11:g.65537025T>G	ExAC,gnomAD
rs747878470	p.Thr586Ala	missense variant	-	NC_000017.11:g.65537020T>C	ExAC,gnomAD
rs1344107562	p.Glu587Gln	missense variant	-	NC_000017.11:g.65537017C>G	gnomAD
rs1305562386	p.Pro588Leu	missense variant	-	NC_000017.11:g.65537013G>A	gnomAD
rs1316456738	p.Leu590Gln	missense variant	-	NC_000017.11:g.65537007A>T	gnomAD
rs1344737332	p.Leu590Val	missense variant	-	NC_000017.11:g.65537008G>C	gnomAD
rs1439853340	p.Ala591Val	missense variant	-	NC_000017.11:g.65537004G>A	TOPMed
rs754833574	p.Ala591Ser	missense variant	-	NC_000017.11:g.65537005C>A	ExAC,TOPMed,gnomAD
rs754833574	p.Ala591Thr	missense variant	-	NC_000017.11:g.65537005C>T	ExAC,TOPMed,gnomAD
rs1159551938	p.Leu592Val	missense variant	-	NC_000017.11:g.65537002G>C	gnomAD
rs876660965	p.Ala594Thr	missense variant	-	NC_000017.11:g.65536996C>T	TOPMed,gnomAD
rs1555577433	p.Arg595Gly	missense variant	-	NC_000017.11:g.65536993T>C	-
NCI-TCGA novel	p.Glu596Lys	missense variant	-	NC_000017.11:g.65536990C>T	NCI-TCGA
rs1060502129	p.Ala599Pro	missense variant	-	NC_000017.11:g.65536981C>G	-
rs1478055553	p.Ala599Asp	missense variant	-	NC_000017.11:g.65536980G>T	TOPMed,gnomAD
rs1478055553	p.Ala599Val	missense variant	-	NC_000017.11:g.65536980G>A	TOPMed,gnomAD
COSM4747370	p.Ala599ProPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.65536981C>-	NCI-TCGA Cosmic
rs1555577425	p.Pro600Ser	missense variant	-	NC_000017.11:g.65536978G>A	-
rs750354919	p.Gly601Ser	missense variant	-	NC_000017.11:g.65536975C>T	ExAC,TOPMed,gnomAD
rs750354919	p.Gly601Cys	missense variant	-	NC_000017.11:g.65536975C>A	ExAC,TOPMed,gnomAD
rs764140840	p.Gly601Ala	missense variant	-	NC_000017.11:g.65536974C>G	ExAC,TOPMed,gnomAD
rs752917795	p.Gly602Val	missense variant	-	NC_000017.11:g.65536971C>A	ExAC,gnomAD
rs1203434475	p.Gly602Arg	missense variant	-	NC_000017.11:g.65536972C>T	gnomAD
NCI-TCGA novel	p.Gly602Ter	stop gained	-	NC_000017.11:g.65536972C>A	NCI-TCGA
rs145353986	p.Ala603Pro	missense variant	-	NC_000017.11:g.65536969C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1268443604	p.Ala605Asp	missense variant	-	NC_000017.11:g.65536962G>T	gnomAD
rs763417360	p.Ala605Ser	missense variant	-	NC_000017.11:g.65536963C>A	ExAC,gnomAD
rs763417360	p.Ala605Thr	missense variant	-	NC_000017.11:g.65536963C>T	ExAC,gnomAD
COSM4068781	p.Ala605Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65536962G>A	NCI-TCGA Cosmic
rs1057522718	p.Leu606Val	missense variant	-	NC_000017.11:g.65536960G>C	TOPMed
rs1242108165	p.Gln607His	missense variant	-	NC_000017.11:g.65536955C>G	TOPMed
rs1389567952	p.Pro609Ser	missense variant	-	NC_000017.11:g.65536951G>A	gnomAD
rs370618491	p.Pro609Leu	missense variant	-	NC_000017.11:g.65536950G>A	ESP,ExAC,TOPMed,gnomAD
rs376248072	p.Arg610Gln	missense variant	-	NC_000017.11:g.65536947C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376248072	p.Arg610Pro	missense variant	-	NC_000017.11:g.65536947C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776445861	p.Arg610Trp	missense variant	-	NC_000017.11:g.65536948G>A	ExAC,gnomAD
rs376248072	p.Arg610Leu	missense variant	-	NC_000017.11:g.65536947C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu611Lys	missense variant	-	NC_000017.11:g.65536945C>T	NCI-TCGA
rs1163092585	p.Gly613Arg	missense variant	-	NC_000017.11:g.65536939C>G	TOPMed
rs373339394	p.Asp614Glu	missense variant	-	NC_000017.11:g.65536934G>C	ESP,ExAC,TOPMed,gnomAD
COSM3820278	p.Asp614His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65536936C>G	NCI-TCGA Cosmic
rs758202890	p.Arg615Lys	missense variant	-	NC_000017.11:g.65536932C>T	ExAC
rs1555577386	p.Ser616Leu	missense variant	-	NC_000017.11:g.65536929G>A	-
rs745857521	p.Val619Ile	missense variant	-	NC_000017.11:g.65536921C>T	ExAC,gnomAD
rs1476148267	p.Val619Ala	missense variant	-	NC_000017.11:g.65536920A>G	gnomAD
rs1476148267	p.Val619Gly	missense variant	-	NC_000017.11:g.65536920A>C	gnomAD
rs752721451	p.Met623Thr	missense variant	-	NC_000017.11:g.65536908A>G	ExAC,TOPMed,gnomAD
rs1460236827	p.Glu625Ala	missense variant	-	NC_000017.11:g.65536902T>G	gnomAD
rs767756290	p.Ser626Arg	missense variant	-	NC_000017.11:g.65536898A>T	ExAC,TOPMed,gnomAD
rs200201811	p.Arg628Trp	missense variant	-	NC_000017.11:g.65536894G>A	ESP,ExAC,TOPMed,gnomAD
rs751781253	p.Gln629Arg	missense variant	-	NC_000017.11:g.65536890T>C	ExAC,TOPMed,gnomAD
rs763312277	p.Ser630Gly	missense variant	-	NC_000017.11:g.65536888T>C	ExAC,gnomAD
rs578156841	p.Ser630Asn	missense variant	-	NC_000017.11:g.65536887C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs761440645	p.Lys631Asn	missense variant	-	NC_000017.11:g.65536883C>G	ExAC,gnomAD
rs139945372	p.Lys631Thr	missense variant	-	NC_000017.11:g.65536884T>G	ESP,ExAC,TOPMed
rs1555577360	p.Lys631Glu	missense variant	-	NC_000017.11:g.65536885T>C	-
rs150557228	p.Lys633Asn	missense variant	-	NC_000017.11:g.65536877C>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Lys633Met	missense variant	-	NC_000017.11:g.65536878T>A	NCI-TCGA
rs373042042	p.Pro634Leu	missense variant	-	NC_000017.11:g.65536875G>A	ESP,ExAC,TOPMed,gnomAD
rs141699123	p.Pro634Thr	missense variant	-	NC_000017.11:g.65536876G>T	ESP,ExAC,TOPMed,gnomAD
rs373042042	p.Pro634Arg	missense variant	-	NC_000017.11:g.65536875G>C	ESP,ExAC,TOPMed,gnomAD
rs141699123	p.Pro634Ser	missense variant	-	NC_000017.11:g.65536876G>A	ESP,ExAC,TOPMed,gnomAD
rs775207779	p.His635Arg	missense variant	-	NC_000017.11:g.65536872T>C	ExAC,TOPMed,gnomAD
rs745616808	p.Ser636Gly	missense variant	-	NC_000017.11:g.65536870T>C	ExAC,TOPMed,gnomAD
rs1329676241	p.Ala637Thr	missense variant	-	NC_000017.11:g.65536552C>T	gnomAD
NCI-TCGA novel	p.Gln638Ter	stop gained	-	NC_000017.11:g.65536549G>A	NCI-TCGA
rs968390172	p.Ser639Asn	missense variant	-	NC_000017.11:g.65536545C>T	TOPMed
rs1332790715	p.Thr640Ile	missense variant	-	NC_000017.11:g.65536542G>A	gnomAD
rs1060502157	p.Thr640Pro	missense variant	-	NC_000017.11:g.65536543T>G	gnomAD
rs748005374	p.Ala643Pro	missense variant	-	NC_000017.11:g.65536534C>G	ExAC,TOPMed,gnomAD
rs748005374	p.Ala643Ser	missense variant	-	NC_000017.11:g.65536534C>A	ExAC,TOPMed,gnomAD
rs1025003994	p.Tyr644Ser	missense variant	-	NC_000017.11:g.65536530T>G	TOPMed,gnomAD
rs1025003994	p.Tyr644Cys	missense variant	-	NC_000017.11:g.65536530T>C	TOPMed,gnomAD
rs1405864888	p.Pro645Ser	missense variant	-	NC_000017.11:g.65536528G>A	gnomAD
rs730881405	p.Pro645Leu	missense variant	-	NC_000017.11:g.65536527G>A	ExAC,gnomAD
rs376550544	p.Glu647Gly	missense variant	-	NC_000017.11:g.65536521T>C	ESP,ExAC,gnomAD
rs779214199	p.Ser648Cys	missense variant	-	NC_000017.11:g.65536518G>C	ExAC,gnomAD
rs1307386989	p.Ala649Val	missense variant	-	NC_000017.11:g.65536515G>A	TOPMed
rs148419444	p.Arg650Cys	missense variant	-	NC_000017.11:g.65536513G>A	ESP,ExAC,TOPMed,gnomAD
rs199719878	p.Arg650His	missense variant	-	NC_000017.11:g.65536512C>T	ExAC,gnomAD
rs74006838	p.Ser651Leu	missense variant	-	NC_000017.11:g.65536509G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs74006838	p.Ser651Trp	missense variant	-	NC_000017.11:g.65536509G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs917901663	p.Ser652Pro	missense variant	-	NC_000017.11:g.65536507A>G	gnomAD
rs767111161	p.Glu655Lys	missense variant	-	NC_000017.11:g.65536498C>T	ExAC,TOPMed,gnomAD
rs1555577180	p.Arg656Gln	missense variant	-	NC_000017.11:g.65536494C>T	-
rs121908568	p.Arg656Ter	stop gained	Oligodontia-colorectal cancer syndrome (odcrcs)	NC_000017.11:g.65536495G>A	-
rs1254934681	p.Ala657Thr	missense variant	-	NC_000017.11:g.65536492C>T	TOPMed
rs751216221	p.Ser658Arg	missense variant	-	NC_000017.11:g.65536487G>C	ExAC,gnomAD
rs142670753	p.Arg659Trp	missense variant	-	NC_000017.11:g.65536486G>A	ESP,ExAC,TOPMed,gnomAD
rs730881400	p.Arg659Gln	missense variant	-	NC_000017.11:g.65536485C>T	ExAC,TOPMed,gnomAD
rs142476324	p.Leu662Pro	missense variant	-	NC_000017.11:g.65536476A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu662Met	missense variant	-	NC_000017.11:g.65536477G>T	NCI-TCGA
rs979932202	p.Leu662Val	missense variant	-	NC_000017.11:g.65536477G>C	TOPMed
rs730882193	p.Trp663Ter	stop gained	Oligodontia-colorectal cancer syndrome (odcrcs)	NC_000017.11:g.65536472C>T	-
rs761870581	p.Trp663Ser	missense variant	-	NC_000017.11:g.65536473C>G	ExAC,gnomAD
rs770763142	p.Trp663Arg	missense variant	-	NC_000017.11:g.65536474A>G	ExAC,TOPMed,gnomAD
rs770763142	p.Trp663Gly	missense variant	-	NC_000017.11:g.65536474A>C	ExAC,TOPMed,gnomAD
rs761870581	p.Trp663Leu	missense variant	-	NC_000017.11:g.65536473C>A	ExAC,gnomAD
rs1398162976	p.Gly664Val	missense variant	-	NC_000017.11:g.65536470C>A	gnomAD
rs772202125	p.Gly665Asp	missense variant	-	NC_000017.11:g.65536467C>T	ExAC,gnomAD
rs267606674	p.Gly665AlaPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.65536467C>-	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn666AlaPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.65536466_65536467insCC	NCI-TCGA
rs1460508423	p.Asn666Lys	missense variant	-	NC_000017.11:g.65536463G>T	gnomAD
rs747355609	p.Asn666GlnPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.65536466_65536467insC	NCI-TCGA,NCI-TCGA Cosmic
rs878854724	p.Ser667Asn	missense variant	-	NC_000017.11:g.65536461C>T	gnomAD
rs774732785	p.Gly668Arg	missense variant	-	NC_000017.11:g.65536459C>T	ExAC,gnomAD
rs756419208	p.His669Gln	missense variant	-	NC_000017.11:g.65536454G>C	ExAC,TOPMed,gnomAD
rs756419208	p.His669Gln	missense variant	-	NC_000017.11:g.65536454G>T	ExAC,TOPMed,gnomAD
rs749487037	p.His669Tyr	missense variant	-	NC_000017.11:g.65536456G>A	ExAC,gnomAD
rs748754551	p.Pro670Arg	missense variant	-	NC_000017.11:g.65536452G>C	ExAC,TOPMed,gnomAD
rs748754551	p.Pro670Leu	missense variant	-	NC_000017.11:g.65536452G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg671AlaPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.65536450G>-	NCI-TCGA
rs765845684	p.Arg671Pro	missense variant	-	NC_000017.11:g.65536449C>G	ExAC,TOPMed,gnomAD
rs754506970	p.Arg671Cys	missense variant	-	NC_000017.11:g.65536450G>A	ExAC,TOPMed,gnomAD
rs765845684	p.Arg671His	missense variant	-	NC_000017.11:g.65536449C>T	ExAC,TOPMed,gnomAD
rs1421895371	p.Thr672Ala	missense variant	-	NC_000017.11:g.65536447T>C	TOPMed,gnomAD
rs1060502141	p.Thr672Ile	missense variant	-	NC_000017.11:g.65536446G>A	gnomAD
rs576688801	p.Thr673Asn	missense variant	-	NC_000017.11:g.65536443G>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Thr673Ser	missense variant	-	NC_000017.11:g.65536444T>A	NCI-TCGA
rs576688801	p.Thr673Ile	missense variant	-	NC_000017.11:g.65536443G>A	1000Genomes,ExAC,gnomAD
rs1341498392	p.Pro674Leu	missense variant	-	NC_000017.11:g.65536440G>A	TOPMed,gnomAD
rs765149006	p.Arg675Gly	missense variant	-	NC_000017.11:g.65536438G>C	ExAC,gnomAD
rs730881401	p.Arg675Leu	missense variant	-	NC_000017.11:g.65536437C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg675ProPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.65536437_65536438insG	NCI-TCGA
rs765149006	p.Arg675Cys	missense variant	-	NC_000017.11:g.65536438G>A	ExAC,gnomAD
rs765149006	p.Arg675Ser	missense variant	-	NC_000017.11:g.65536438G>T	ExAC,gnomAD
rs730881401	p.Arg675His	missense variant	-	NC_000017.11:g.65536437C>T	ExAC,TOPMed,gnomAD
rs1424100499	p.Ala676Thr	missense variant	-	NC_000017.11:g.65536435C>T	gnomAD
rs1555577104	p.His677Gln	missense variant	-	NC_000017.11:g.65536430G>T	-
rs1555577107	p.His677Arg	missense variant	-	NC_000017.11:g.65536431T>C	-
rs368798367	p.Leu678Gln	missense variant	-	NC_000017.11:g.65536428A>T	ESP,ExAC,TOPMed,gnomAD
rs368798367	p.Leu678Pro	missense variant	-	NC_000017.11:g.65536428A>G	ESP,ExAC,TOPMed,gnomAD
rs1165276318	p.Phe679Leu	missense variant	-	NC_000017.11:g.65536424G>C	gnomAD
rs1255307307	p.Thr680Ala	missense variant	-	NC_000017.11:g.65536423T>C	TOPMed
NCI-TCGA novel	p.Gln681His	missense variant	-	NC_000017.11:g.65536418C>A	NCI-TCGA
rs911977110	p.Gln681Glu	missense variant	-	NC_000017.11:g.65536420G>C	TOPMed,gnomAD
rs1555577097	p.Asp682Tyr	missense variant	-	NC_000017.11:g.65536417C>A	-
rs1555577092	p.Pro683Leu	missense variant	-	NC_000017.11:g.65536413G>A	-
rs138287857	p.Ala684Val	missense variant	-	NC_000017.11:g.65536410G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1393284650	p.Ala684Thr	missense variant	-	NC_000017.11:g.65536411C>T	TOPMed
rs1047911557	p.Met685Ile	missense variant	-	NC_000017.11:g.65536406C>T	-
rs111650787	p.Met685Val	missense variant	-	NC_000017.11:g.65536408T>C	ExAC,TOPMed,gnomAD
rs771109399	p.Pro687Leu	missense variant	-	NC_000017.11:g.65536401G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu688ProPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.65536398_65536399insG	NCI-TCGA
COSM193302	p.Leu688Ter	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.65536399G>-	NCI-TCGA Cosmic
rs367725839	p.Thr689Ser	missense variant	-	NC_000017.11:g.65536395G>C	ESP,ExAC,gnomAD
rs1229715038	p.Thr689Ala	missense variant	-	NC_000017.11:g.65536396T>C	gnomAD
rs770199204	p.Pro690Ser	missense variant	-	NC_000017.11:g.65536393G>A	ExAC,gnomAD
rs1352792335	p.Pro691Ser	missense variant	-	NC_000017.11:g.65536390G>A	gnomAD
rs1555577070	p.Asn692Ser	missense variant	-	NC_000017.11:g.65536386T>C	-
rs755519590	p.Thr693Met	missense variant	-	NC_000017.11:g.65536383G>A	ExAC,gnomAD
rs1325648219	p.Leu694Met	missense variant	-	NC_000017.11:g.65536381G>T	gnomAD
rs140510381	p.Ala695Ser	missense variant	-	NC_000017.11:g.65536378C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM983025	p.Ala695Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65536377G>A	NCI-TCGA Cosmic
rs778376993	p.Gln696Arg	missense variant	-	NC_000017.11:g.65536374T>C	ExAC,TOPMed,gnomAD
COSM1303211	p.Gln696Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.65536375G>A	NCI-TCGA Cosmic
rs1214718312	p.Glu698Val	missense variant	-	NC_000017.11:g.65536368T>A	TOPMed
rs1414074583	p.Ala700Asp	missense variant	-	NC_000017.11:g.65536362G>T	gnomAD
rs1060502130	p.Cys701Phe	missense variant	-	NC_000017.11:g.65536359C>A	gnomAD
rs1060502130	p.Cys701Tyr	missense variant	-	NC_000017.11:g.65536359C>T	gnomAD
rs1060502130	p.Cys701Ser	missense variant	-	NC_000017.11:g.65536359C>G	gnomAD
rs1244431726	p.Arg702Ser	missense variant	-	NC_000017.11:g.65536357G>T	gnomAD
rs1244431726	p.Arg702Cys	missense variant	-	NC_000017.11:g.65536357G>A	gnomAD
rs757100957	p.Arg702His	missense variant	-	NC_000017.11:g.65536356C>T	ExAC,gnomAD
rs757100957	p.Arg702Leu	missense variant	-	NC_000017.11:g.65536356C>A	ExAC,gnomAD
rs565565172	p.Arg703Lys	missense variant	-	NC_000017.11:g.65536353C>T	1000Genomes
rs121908567	p.Glu706Lys	missense variant	-	NC_000017.11:g.65536345C>T	gnomAD
rs121908567	p.Glu706Ter	stop gained	-	NC_000017.11:g.65536345C>A	gnomAD
rs587780123	p.Ser708Leu	missense variant	-	NC_000017.11:g.65536338G>A	TOPMed,gnomAD
rs752664902	p.Gln713His	missense variant	-	NC_000017.11:g.65536322C>A	ExAC,gnomAD
rs762872515	p.Arg714Gln	missense variant	-	NC_000017.11:g.65536320C>T	ExAC,TOPMed,gnomAD
rs148765149	p.Arg714Trp	missense variant	-	NC_000017.11:g.65536321G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs767503380	p.Val717Ala	missense variant	-	NC_000017.11:g.65535713A>G	ExAC,gnomAD
rs1211491592	p.Ala718Ser	missense variant	-	NC_000017.11:g.65535711C>A	gnomAD
rs1060502147	p.Gln720Arg	missense variant	-	NC_000017.11:g.65535704T>C	-
rs1230715098	p.Arg724Gly	missense variant	-	NC_000017.11:g.65535693T>C	TOPMed,gnomAD
rs533243256	p.Asn725Ile	missense variant	-	NC_000017.11:g.65535689T>A	1000Genomes,ExAC,gnomAD
rs533243256	p.Asn725Ser	missense variant	-	NC_000017.11:g.65535689T>C	1000Genomes,ExAC,gnomAD
rs1064795595	p.Ser727Pro	missense variant	-	NC_000017.11:g.65535684A>G	-
rs200460573	p.Ser727Leu	missense variant	-	NC_000017.11:g.65535683G>A	TOPMed,gnomAD
rs762001576	p.Ala728Gly	missense variant	-	NC_000017.11:g.65535680G>C	ExAC
rs141260153	p.Ala728Thr	missense variant	-	NC_000017.11:g.65535681C>T	ESP,ExAC,TOPMed,gnomAD
rs769016231	p.Thr729Ala	missense variant	-	NC_000017.11:g.65535678T>C	ExAC,gnomAD
rs776003231	p.Val730Leu	missense variant	-	NC_000017.11:g.65535675C>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln731His	missense variant	-	NC_000017.11:g.65535670C>A	NCI-TCGA
rs373911689	p.Thr732Met	missense variant	-	NC_000017.11:g.65535668G>A	ESP,ExAC,TOPMed,gnomAD
rs1390389867	p.Ala734Thr	missense variant	-	NC_000017.11:g.65535663C>T	gnomAD
rs1163700628	p.Thr735Ala	missense variant	-	NC_000017.11:g.65535660T>C	gnomAD
rs746350974	p.Thr735Ile	missense variant	-	NC_000017.11:g.65535659G>A	ExAC
rs778332146	p.Pro736Leu	missense variant	-	NC_000017.11:g.65535656G>A	ExAC,gnomAD
rs951676348	p.Pro736Ser	missense variant	-	NC_000017.11:g.65535657G>A	TOPMed,gnomAD
rs951676348	p.Pro736Thr	missense variant	-	NC_000017.11:g.65535657G>T	TOPMed,gnomAD
rs139209450	p.Ser738Phe	missense variant	-	NC_000017.11:g.65535650G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs547630327	p.Asn739Ser	missense variant	-	NC_000017.11:g.65535647T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs547630327	p.Asn739Ile	missense variant	-	NC_000017.11:g.65535647T>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro740Leu	missense variant	-	NC_000017.11:g.65535644G>A	NCI-TCGA
rs370503213	p.Pro740Ser	missense variant	-	NC_000017.11:g.65535645G>A	ESP,ExAC,TOPMed,gnomAD
rs747903181	p.Pro740Arg	missense variant	-	NC_000017.11:g.65535644G>C	ExAC,TOPMed,gnomAD
rs781309325	p.Ser741Asn	missense variant	-	NC_000017.11:g.65535641C>T	ExAC,TOPMed,gnomAD
rs1291289398	p.Ser741Gly	missense variant	-	NC_000017.11:g.65535642T>C	gnomAD
rs969592225	p.Ala743Val	missense variant	-	NC_000017.11:g.65535635G>A	-
rs1228679390	p.Pro744Leu	missense variant	-	NC_000017.11:g.65535632G>A	gnomAD
rs1314547209	p.Pro744Ser	missense variant	-	NC_000017.11:g.65535633G>A	gnomAD
rs183475174	p.Asp746Asn	missense variant	-	NC_000017.11:g.65535627C>T	1000Genomes
rs143571197	p.His747Tyr	missense variant	-	NC_000017.11:g.65534078G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs62640031	p.His747Arg	missense variant	-	NC_000017.11:g.65534077T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys748Ile	missense variant	-	NC_000017.11:g.65534074T>A	NCI-TCGA
NCI-TCGA novel	p.Glu749ArgPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.65534072_65534073insT	NCI-TCGA
rs772888193	p.Pro750Leu	missense variant	-	NC_000017.11:g.65534068G>A	ExAC,TOPMed,gnomAD
rs1236306797	p.Pro750Ser	missense variant	-	NC_000017.11:g.65534069G>A	TOPMed,gnomAD
rs776281840	p.Lys751Asn	missense variant	-	NC_000017.11:g.65534064C>G	ExAC,gnomAD
rs776281840	p.Lys751Asn	missense variant	-	NC_000017.11:g.65534064C>A	ExAC,gnomAD
rs768352721	p.Leu753Arg	missense variant	-	NC_000017.11:g.65534059A>C	ExAC,gnomAD
rs746773698	p.Ala754Val	missense variant	-	NC_000017.11:g.65534056G>A	ExAC,TOPMed,gnomAD
rs981540341	p.Gly755Ala	missense variant	-	NC_000017.11:g.65534053C>G	TOPMed
rs981540341	p.Gly755Val	missense variant	-	NC_000017.11:g.65534053C>A	TOPMed
rs1060502140	p.Val756Ile	missense variant	-	NC_000017.11:g.65534051C>T	TOPMed
rs772041910	p.His757Gln	missense variant	-	NC_000017.11:g.65534046G>C	ExAC,TOPMed,gnomAD
rs145007501	p.Ala758Thr	missense variant	-	NC_000017.11:g.65534045C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777885192	p.Ala758Val	missense variant	-	NC_000017.11:g.65534044G>A	ExAC,TOPMed,gnomAD
rs1060502135	p.Leu759Arg	missense variant	-	NC_000017.11:g.65534041A>C	gnomAD
rs1060502135	p.Leu759His	missense variant	-	NC_000017.11:g.65534041A>T	gnomAD
rs752865337	p.Gln760Ter	stop gained	-	NC_000017.11:g.65534039G>A	ExAC,gnomAD
rs79732150	p.Ala761Asp	missense variant	-	NC_000017.11:g.65534035G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1024751792	p.Ala761Thr	missense variant	-	NC_000017.11:g.65534036C>T	TOPMed,gnomAD
rs117688560	p.Ser762Ile	missense variant	-	NC_000017.11:g.65534032C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs117688560	p.Ser762Asn	missense variant	-	NC_000017.11:g.65534032C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755320218	p.Ser762Gly	missense variant	-	NC_000017.11:g.65534033T>C	ExAC,gnomAD
rs763613779	p.Thr767Asn	missense variant	-	NC_000017.11:g.65534017G>T	ExAC,gnomAD
rs750962952	p.Tyr768His	missense variant	-	NC_000017.11:g.65534015A>G	ExAC,gnomAD
rs764845153	p.Tyr768Phe	missense variant	-	NC_000017.11:g.65534014T>A	ExAC,gnomAD
rs1555576387	p.Phe770Leu	missense variant	-	NC_000017.11:g.65534009A>G	-
rs150734114	p.Ile775Phe	missense variant	-	NC_000017.11:g.65533994T>A	ExAC,TOPMed,gnomAD
rs1555576382	p.Ile775Thr	missense variant	-	NC_000017.11:g.65533993A>G	-
rs1064793454	p.Pro776Ser	missense variant	-	NC_000017.11:g.65533991G>A	-
rs1398258340	p.Arg778Trp	missense variant	-	NC_000017.11:g.65533985G>A	gnomAD
rs1555576374	p.Arg778Gln	missense variant	-	NC_000017.11:g.65533984C>T	-
rs1555576371	p.Met780Ile	missense variant	-	NC_000017.11:g.65533977C>T	-
rs760217787	p.Ala783Ser	missense variant	-	NC_000017.11:g.65533970C>A	ExAC,TOPMed,gnomAD
rs1484466355	p.Ala783Gly	missense variant	-	NC_000017.11:g.65533969G>C	TOPMed
NCI-TCGA novel	p.Thr787Asn	missense variant	-	NC_000017.11:g.65533957G>T	NCI-TCGA
rs1060502138	p.Gly789Ala	missense variant	-	NC_000017.11:g.65533951C>G	gnomAD
rs1475599007	p.His790Tyr	missense variant	-	NC_000017.11:g.65533949G>A	gnomAD
NCI-TCGA novel	p.Gln794Lys	missense variant	-	NC_000017.11:g.65533937G>T	NCI-TCGA
rs1555576353	p.Lys797Thr	missense variant	-	NC_000017.11:g.65533927T>G	-
rs1555576349	p.Lys798Gln	missense variant	-	NC_000017.11:g.65533925T>G	-
rs771837388	p.Lys798Arg	missense variant	-	NC_000017.11:g.65533924T>C	ExAC,gnomAD
rs778752803	p.Arg802Met	missense variant	-	NC_000017.11:g.65533912C>A	ExAC,TOPMed,gnomAD
rs778752803	p.Arg802Thr	missense variant	-	NC_000017.11:g.65533912C>G	ExAC,TOPMed,gnomAD
rs1280152084	p.Tyr803Cys	missense variant	-	NC_000017.11:g.65530100T>C	gnomAD
rs768614505	p.Lys806Arg	missense variant	-	NC_000017.11:g.65530091T>C	ExAC,TOPMed,gnomAD
rs780367025	p.Lys807Thr	missense variant	-	NC_000017.11:g.65530088T>G	ExAC,gnomAD
rs780367025	p.Lys807Ile	missense variant	-	NC_000017.11:g.65530088T>A	ExAC,gnomAD
rs140344858	p.Asp810Asn	missense variant	-	NC_000017.11:g.65530080C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757835133	p.Asp810Glu	missense variant	-	NC_000017.11:g.65530078A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu811Gly	missense variant	-	NC_000017.11:g.65530076T>C	NCI-TCGA
rs1555575491	p.Glu811Gln	missense variant	-	NC_000017.11:g.65530077C>G	-
rs372420075	p.Ala813Thr	missense variant	-	NC_000017.11:g.65530071C>T	ESP,TOPMed
rs1060502127	p.Cys814Phe	missense variant	-	NC_000017.11:g.65530067C>A	-
rs1555575480	p.Gly815Arg	missense variant	-	NC_000017.11:g.65530065C>T	-
rs755508971	p.Ala816Val	missense variant	-	NC_000017.11:g.65530061G>A	ExAC,gnomAD
COSM4756455	p.Glu819Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65530053C>G	NCI-TCGA Cosmic
rs1244596696	p.Asp824Asn	missense variant	-	NC_000017.11:g.65530038C>T	gnomAD
rs767106022	p.Asp824Glu	missense variant	-	NC_000017.11:g.65530036A>T	ExAC,TOPMed,gnomAD
rs759355821	p.Thr826Met	missense variant	-	NC_000017.11:g.65530031G>A	ExAC,TOPMed,gnomAD
rs144788470	p.Val827Met	missense variant	-	NC_000017.11:g.65530029C>T	ESP,ExAC,gnomAD
rs1285654850	p.Pro829Leu	missense variant	-	NC_000017.11:g.65530022G>A	gnomAD
rs878854727	p.Met830Lys	missense variant	-	NC_000017.11:g.65530019A>T	TOPMed,gnomAD
rs747010025	p.Met830Ile	missense variant	-	NC_000017.11:g.65530018C>T	ExAC,gnomAD
rs878854727	p.Met830Thr	missense variant	-	NC_000017.11:g.65530019A>G	TOPMed,gnomAD
rs775884055	p.Tyr831Asp	missense variant	-	NC_000017.11:g.65530017A>C	ExAC,gnomAD
rs199838262	p.Arg834Gln	missense variant	-	NC_000017.11:g.65530007C>T	1000Genomes,ExAC,gnomAD
rs878854728	p.Arg834Trp	missense variant	-	NC_000017.11:g.65530008G>A	gnomAD
rs562176077	p.Arg841Gln	missense variant	-	NC_000017.11:g.65529986C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs562176077	p.Arg841Pro	missense variant	-	NC_000017.11:g.65529986C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs527766429	p.Arg841Trp	missense variant	-	NC_000017.11:g.65529987G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1413374885	p.Asp843Val	missense variant	-	NC_000017.11:g.65529980T>A	TOPMed,gnomAD
rs1249731868	p.Asp843Asn	missense variant	-	NC_000017.11:g.65529981C>T	TOPMed
rs1249731868	p.Asp843His	missense variant	-	NC_000017.11:g.65529981C>G	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000846	Agenesis	disease	BEFREE
C0001430	Adenoma	group	BEFREE
C0002793	Anaplasia	disease	BEFREE
C0004991	Benign neoplasm of colon	disease	CLINGEN
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006826	Malignant Neoplasms	group	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE;CTD_human
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007134	Renal Cell Carcinoma	disease	BEFREE;HPO
C0008924	Cleft upper lip	disease	LHGDN
C0009375	Colonic Neoplasms	group	BEFREE;CTD_human;LHGDN
C0009402	Colorectal Carcinoma	disease	BEFREE;CTD_human
C0009404	Colorectal Neoplasms	group	CTD_human;LHGDN
C0010278	Craniosynostosis	disease	MGD
C0011854	Diabetes Mellitus, Insulin-Dependent	disease	BEFREE
C0011881	Diabetic Nephropathy	disease	BEFREE
C0013575	Ectodermal Dysplasia	disease	BEFREE
C0017636	Glioblastoma	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0020608	Hypodontia	disease	BEFREE;ORPHANET
C0021841	Intestinal Neoplasms	group	BEFREE
C0023532	Leukoplakia, Oral	disease	BEFREE
C0023903	Liver neoplasms	group	BEFREE
C0024121	Lung Neoplasms	group	LHGDN
C0024143	Lupus Nephritis	disease	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE;CGI
C0025149	Medulloblastoma	disease	BEFREE;LHGDN
C0025202	melanoma	disease	BEFREE;LHGDN
C0025990	Micrognathism	disease	HPO
C0026764	Multiple Myeloma	disease	BEFREE
C0026769	Multiple Sclerosis	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0032580	Adenomatous Polyposis Coli	disease	BEFREE
C0038356	Stomach Neoplasms	group	BEFREE;CGI;HPO
C0039101	synovial sarcoma	disease	BEFREE
C0153381	Malignant neoplasm of mouth	disease	BEFREE
C0153452	Malignant neoplasm of gallbladder	disease	BEFREE
C0153943	Benign neoplasm of stomach	disease	CGI
C0154060	Carcinoma in situ of stomach	disease	CGI
C0206624	Hepatoblastoma	disease	BEFREE
C0206667	Adrenal Cortical Adenoma	disease	BEFREE
C0206731	Angiofibroma	disease	BEFREE
C0220641	Lip and Oral Cavity Carcinoma	disease	BEFREE
C0235782	Gallbladder Carcinoma	disease	BEFREE
C0240310	Hypoplasia of the maxilla	disease	HPO
C0240340	Microdontia (disorder)	disease	HPO
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0279628	Adenocarcinoma Of Esophagus	disease	BEFREE
C0279680	Transitional cell carcinoma of bladder	disease	HPO
C0280631	Leiomyosarcoma of uterus	disease	HPO
C0334294	Multiple adenomatous polyps	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0496905	Neoplasm of uncertain or unknown behavior of stomach	disease	CGI
C0596263	Carcinogenesis	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0685938	Malignant neoplasm of gastrointestinal tract	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE;CLINVAR
C0699791	Stomach Carcinoma	disease	BEFREE;CGI
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1266005	Basaloid squamous cell carcinoma	disease	BEFREE
C1306459	Primary malignant neoplasm	group	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1319315	Adenocarcinoma of large intestine	disease	CGI
C1458155	Mammary Neoplasms	group	LHGDN
C1527249	Colorectal Cancer	disease	BEFREE;CTD_human
C1608408	Malignant transformation	phenotype	BEFREE
C1621958	Glioblastoma Multiforme	disease	BEFREE
C1837750	Oligodontia-Colorectal Cancer Syndrome	disease	BEFREE;CLINVAR;CTD_human;ORPHANET
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C2239176	Liver carcinoma	disease	BEFREE;CGI
C2751492	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	disease	BEFREE
C3489529	Tooth Agenesis, Familial	disease	BEFREE
C3539878	Triple Negative Breast Neoplasms	disease	BEFREE
C4020813	Increased gastric cancer	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4024989	Hereditary nonpolyposis colorectal carcinoma	disease	HPO
C4082243	Maxillary retrognathia	phenotype	HPO
C4082304	Oligodontia	disease	BEFREE;HPO;ORPHANET
C4280611	Decreased size of teeth	phenotype	HPO
C4280612	Decreased width of tooth	phenotype	HPO
C4280619	Missing more than six teeth	phenotype	HPO
C4280640	Retrusion of upper jaw bones	phenotype	HPO
C4280641	Hypotrophic maxilla	phenotype	HPO
C4280642	Deficiency of upper jaw bones	phenotype	HPO
C4280643	Decreased projection of maxilla	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0008013	beta-catenin binding	NAS
GO:0019899	enzyme binding	IPI
GO:0031625	ubiquitin protein ligase binding	IPI
GO:0070411	I-SMAD binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001756	somitogenesis	IEA
GO:0001934	positive regulation of protein phosphorylation	IMP
GO:0001957	intramembranous ossification	IEA
GO:0003139	secondary heart field specification	IEA
GO:0003413	chondrocyte differentiation involved in endochondral bone morphogenesis	IEA
GO:0008283	cell population proliferation	IEA
GO:0008285	negative regulation of cell population proliferation	IMP
GO:0010718	positive regulation of epithelial to mesenchymal transition	IMP
GO:0010942	positive regulation of cell death	IMP
GO:0016055	Wnt signaling pathway	IEA
GO:0030282	bone mineralization	IEA
GO:0032423	regulation of mismatch repair	IMP
GO:0034613	cellular protein localization	IDA
GO:0042476	odontogenesis	IMP
GO:0043570	maintenance of DNA repeat elements	IMP
GO:0045668	negative regulation of osteoblast differentiation	IEA
GO:0048255	mRNA stabilization	IMP
GO:0061181	regulation of chondrocyte development	IEA
GO:0070602	regulation of centromeric sister chromatid cohesion	IMP
GO:0090090	negative regulation of canonical Wnt signaling pathway	IMP
GO:0090090	negative regulation of canonical Wnt signaling pathway	IDA
GO:0090263	positive regulation of canonical Wnt signaling pathway	TAS
GO:1904837	beta-catenin-TCF complex assembly	TAS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IDA
GO:0005737	cytoplasm	IDA
GO:0005813	centrosome	IDA
GO:0005829	cytosol	TAS
GO:0030877	beta-catenin destruction complex	NAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-195721	Signaling by WNT	TAS
R-HSA-201681	TCF dependent signaling in response to WNT	TAS
R-HSA-201722	Formation of the beta-catenin:TCF transactivating complex	TAS
R-HSA-392499	Metabolism of proteins	TAS
R-HSA-4411364	Binding of TCF/LEF:CTNNB1 to target gene promoters	TAS
R-HSA-4641257	Degradation of AXIN	TAS
R-HSA-5688426	Deubiquitination	TAS
R-HSA-5689880	Ub-specific processing proteases	TAS
R-HSA-597592	Post-translational protein modification	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C552530	1,1-bis(3'-indolyl)-1-(4-hydroxyphenyl)methane	1,1-bis(3'-indolyl)-1-(4-hydroxyphenyl)methane inhibits the reaction [TGFB1 protein promotes the reaction [NR4A1 protein binds to AXIN2 protein]]	26929200
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in decreased expression of AXIN2 protein	21705713
C051246	1-methylanthracene	[1-methylanthracene co-treated with fluoranthene] results in decreased expression of AXIN2 mRNA	28329830
C548651	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of AXIN2 mRNA	19933214
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	2,4,5,2',4',5'-hexachlorobiphenyl inhibits the reaction [WNT3A results in increased expression of AXIN2 protein]	19464575
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	2,4,5,2',4',5'-hexachlorobiphenyl results in decreased expression of AXIN2 mRNA	19464575
C511621	2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide inhibits the reaction [Particulate Matter analog results in decreased expression of AXIN2 mRNA]	27216425
C511621	2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide results in decreased expression of AXIN2 mRNA	29704546
C023035	3,4,5,3',4'-pentachlorobiphenyl	[3,4,5,3',4'-pentachlorobiphenyl co-treated with kenpaullone] results in increased expression of AXIN2 mRNA	25711857
C023035	3,4,5,3',4'-pentachlorobiphenyl	[3,4,5,3',4'-pentachlorobiphenyl co-treated with XAV939] results in increased expression of AXIN2 mRNA	25711857
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in increased expression of AXIN2 mRNA	25711857
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in decreased expression of AXIN2 mRNA	23196670
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat 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 AXIN2 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 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 AXIN2 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 Vorinostat 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 AXIN2 mRNA	27188386
C111855	6-formylindolo(3,2-b)carbazole	AHR2 protein affects the reaction [[kenpaullone co-treated with 6-formylindolo(3,2-b)carbazole] results in increased expression of AXIN2 mRNA]	25711857
C111855	6-formylindolo(3,2-b)carbazole	[AHR2 protein co-treated with 6-formylindolo(3,2-b)carbazole] results in increased expression of AXIN2 mRNA	25711857
C111855	6-formylindolo(3,2-b)carbazole	[kenpaullone co-treated with 6-formylindolo(3,2-b)carbazole] results in increased expression of AXIN2 mRNA	25711857
C111855	6-formylindolo(3,2-b)carbazole	[XAV939 co-treated with 6-formylindolo(3,2-b)carbazole] results in increased expression of AXIN2 mRNA	25711857
C496492	abrine	abrine results in decreased expression of AXIN2 mRNA	31054353
D000079	Acetaldehyde	Acetaldehyde affects the expression of AXIN2 mRNA	22634333
C042151	aeroplysinin I	aeroplysinin I results in decreased expression of AXIN2 protein	27120392
D000395	Air Pollutants, Occupational	Air Pollutants, Occupational results in increased expression of AXIN2 mRNA	19936710
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of AXIN2 mRNA	16483693
D000661	Amphetamine	Amphetamine results in decreased expression of AXIN2 mRNA	30779732
D000728	Androgens	Androgens deficiency results in decreased expression of AXIN2 mRNA	29367455
D000728	Androgens	Dihydrotestosterone inhibits the reaction [Androgens deficiency results in decreased expression of AXIN2 mRNA]	29367455
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of AXIN2 mRNA	24449571
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of AXIN2 mRNA	29633893
C015001	arsenite	arsenite results in increased methylation of AXIN2 promoter	23974009
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of AXIN2 mRNA	26238291
D001663	Bilirubin	Bilirubin results in decreased expression of AXIN2 mRNA	20196124
C006780	bisphenol A	bisphenol A affects the expression of AXIN2 mRNA	21786754
C006780	bisphenol A	bisphenol A results in decreased expression of AXIN2 mRNA	27685785
C006780	bisphenol A	bisphenol A results in decreased methylation of AXIN2 promoter	27312807
C006780	bisphenol A	bisphenol A results in decreased expression of AXIN2 mRNA	25181051; 30816183;
C106525	broussochalcone A	broussochalcone A results in decreased expression of AXIN2 protein	31163223
D002087	Butyrates	Butyrates results in increased expression of AXIN2 mRNA	16042588
D002185	Cannabidiol	Cannabidiol affects the methylation of AXIN2 gene	30521419
D002220	Carbamazepine	Carbamazepine affects the expression of AXIN2 mRNA	25979313
D002220	Carbamazepine	Carbamazepine affects the expression of AXIN2 mRNA	22634333
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of AXIN2 mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of AXIN2 mRNA]	31150632
C054133	casticin	casticin results in increased expression of AXIN2 mRNA	27862857
C473711	Chir 99021	Chir 99021 inhibits the reaction [Particulate Matter analog results in decreased expression of AXIN2 mRNA]	27216425
D004390	Chlorpyrifos	Chlorpyrifos results in decreased expression of AXIN2 mRNA	18668222
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of AXIN2 gene	20938992
D002922	Ciguatoxins	Ciguatoxins affects the expression of AXIN2 mRNA	18353800
D003024	Clozapine	Clozapine results in decreased expression of AXIN2 mRNA	16715494
D003300	Copper	Copper results in increased expression of AXIN2 mRNA	30556269
D019327	Copper Sulfate	Copper Sulfate results in increased expression of AXIN2 mRNA	19549813
D003471	Cuprizone	Cuprizone results in increased expression of AXIN2 mRNA	26577399
D000077209	Decitabine	Decitabine results in decreased methylation of AXIN2 gene	27923600
D000077209	Decitabine	Decitabine results in increased expression of AXIN2 mRNA	27915011
C007262	deoxynivalenol	deoxynivalenol results in increased expression of AXIN2 protein	30690062
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of AXIN2 mRNA]	27941970
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of AXIN2 mRNA	21266533
D004026	Dieldrin	Dieldrin results in decreased expression of AXIN2 mRNA	28385952
D013196	Dihydrotestosterone	Dihydrotestosterone inhibits the reaction [Androgens deficiency results in decreased expression of AXIN2 mRNA]	29367455
D004147	Dioxins	Dioxins affects the expression of AXIN2 mRNA	20463971
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat 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 AXIN2 mRNA	27188386
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 AXIN2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Vorinostat 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 AXIN2 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in increased oxidation of AXIN2 protein	28818578
D004365	Drugs, Chinese Herbal	Drugs, Chinese Herbal results in increased expression of AXIN2 mRNA	23262642
D004958	Estradiol	EGF protein inhibits the reaction [Estradiol results in decreased expression of AXIN2 mRNA]	24758408
D004958	Estradiol	Estradiol affects the expression of AXIN2 mRNA	22574217
D004958	Estradiol	[Estradiol co-treated with Progesterone] results in decreased expression of AXIN2 mRNA	20660070
D004958	Estradiol	Estradiol results in decreased expression of AXIN2 mRNA	24758408
D000431	Ethanol	Ethanol affects the expression of AXIN2 mRNA	30319688
D017313	Fenretinide	Fenretinide results in decreased expression of AXIN2 mRNA	28973697
D017313	Fenretinide	Fenretinide results in increased expression of AXIN2 mRNA	28973697
C007738	fluoranthene	[1-methylanthracene co-treated with fluoranthene] results in decreased expression of AXIN2 mRNA	28329830
C061365	flusilazole	flusilazole affects the expression of AXIN2 mRNA	22634333
D005492	Folic Acid	[Folic Acid co-treated with sodium arsenite] results in increased methylation of AXIN2 mRNA	22959928
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of AXIN2 gene	20938992
C069837	fullerene C60	fullerene C60 results in increased expression of AXIN2 mRNA	19167457
C056507	gemcitabine	gemcitabine affects the expression of AXIN2 mRNA	20103597
C010974	glyphosate	glyphosate results in increased methylation of AXIN2 gene	31011160
D006220	Haloperidol	Haloperidol results in decreased expression of AXIN2 mRNA	16715494
D006247	Harmine	Harmine inhibits the reaction [WNT3A protein results in increased expression of AXIN2 mRNA]	20519739
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in increased expression of AXIN2 mRNA	26846883
C119620	kenpaullone	[3,4,5,3',4'-pentachlorobiphenyl co-treated with kenpaullone] results in increased expression of AXIN2 mRNA	25711857
C119620	kenpaullone	AHR2 protein affects the reaction [[kenpaullone co-treated with 6-formylindolo(3,2-b)carbazole] results in increased expression of AXIN2 mRNA]	25711857
C119620	kenpaullone	AHR2 protein affects the reaction [kenpaullone results in increased expression of AXIN2 mRNA]	25711857
C119620	kenpaullone	[kenpaullone co-treated with 6-formylindolo(3,2-b)carbazole] results in increased expression of AXIN2 mRNA	25711857
C119620	kenpaullone	kenpaullone results in increased expression of AXIN2 mRNA	25711857
D002955	Leucovorin	[Methotrexate co-treated with Leucovorin] results in increased expression of AXIN2 mRNA	25187349
D018021	Lithium Chloride	Lithium Chloride results in increased expression of AXIN2 mRNA	22493441; 24534281;
D018021	Lithium Chloride	Niclosamide inhibits the reaction [Lithium Chloride results in increased expression of AXIN2 mRNA]	24534281
D018021	Lithium Chloride	XAV939 inhibits the reaction [Lithium Chloride results in increased expression of AXIN2 mRNA]	24534281
D018021	Lithium Chloride	[Lithium Chloride results in decreased activity of GSK3B protein] which results in increased expression of AXIN2 mRNA	21498875
D018021	Lithium Chloride	Lithium Chloride results in increased expression of AXIN2 mRNA	20694829; 23326414; 27693619;
D018021	Lithium Chloride	Phenobarbital inhibits the reaction [Lithium Chloride results in increased expression of AXIN2 mRNA]	27693619
C025340	manganese chloride	manganese chloride results in increased expression of AXIN2 mRNA	28801915
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of AXIN2 gene	20938992
D008727	Methotrexate	[Methotrexate co-treated with Leucovorin] results in increased expression of AXIN2 mRNA	25187349
D015735	Mifepristone	Mifepristone results in increased expression of AXIN2 mRNA	17584828
C523799	MRK 003	MRK 003 results in increased expression of AXIN2 mRNA	21169257
C500085	muraglitazar	muraglitazar results in decreased expression of AXIN2 mRNA	21515302
D009532	Nickel	Nickel results in decreased expression of AXIN2 mRNA	24768652
C028007	nickel monoxide	nickel monoxide results in increased expression of AXIN2 mRNA	19167457
D009534	Niclosamide	Niclosamide inhibits the reaction [Lithium Chloride results in increased expression of AXIN2 mRNA]	24534281
D009534	Niclosamide	Niclosamide results in decreased expression of AXIN2 mRNA	22576131
D009534	Niclosamide	Niclosamide results in decreased expression of AXIN2 protein	24552774; 24736023;
C015157	N,N-dimethylaniline	N,N-dimethylaniline analog results in decreased expression of AXIN2 protein	21291235
D019319	Okadaic Acid	Okadaic Acid results in increased expression of AXIN2 mRNA	31115591
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat 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 AXIN2 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of AXIN2 mRNA	26272509
D010261	Paraoxon	Paraoxon results in decreased expression of AXIN2 mRNA	24413757
D010269	Paraquat	Paraquat results in decreased expression of AXIN2 mRNA	27788593
D052638	Particulate Matter	2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide inhibits the reaction [Particulate Matter analog results in decreased expression of AXIN2 mRNA]	27216425
D052638	Particulate Matter	Chir 99021 inhibits the reaction [Particulate Matter analog results in decreased expression of AXIN2 mRNA]	27216425
D052638	Particulate Matter	Particulate Matter analog results in decreased expression of AXIN2 mRNA	27216425
C000610380	p-carboxymethylphenyl 1,1-bis(3'-indolyl)-1-(p-carboxymethylphenyl)methane	p-carboxymethylphenyl 1,1-bis(3'-indolyl)-1-(p-carboxymethylphenyl)methane inhibits the reaction [TGFB1 protein promotes the reaction [NR4A1 protein binds to AXIN2 protein]]	26929200
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of AXIN2 mRNA	19162173
D010634	Phenobarbital	NR1I3 protein affects the reaction [Phenobarbital results in increased expression of AXIN2 mRNA]	19482888
D010634	Phenobarbital	Phenobarbital inhibits the reaction [Lithium Chloride results in increased expression of AXIN2 mRNA]	27693619
D010634	Phenobarbital	Phenobarbital results in decreased expression of AXIN2 mRNA	27693619
D010634	Phenobarbital	Phenobarbital results in increased expression of AXIN2 mRNA	19482888
D010705	Phosgene	Phosgene affects the expression of AXIN2 mRNA	16300373
C006253	pirinixic acid	pirinixic acid results in decreased expression of AXIN2 mRNA	17426115
C548732	PKF118-310	PKF118-310 results in decreased expression of AXIN2 mRNA	22470504
D010936	Plant Extracts	Plant Extracts results in increased expression of AXIN2 mRNA	23262642
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of AXIN2 mRNA	23608068
D017035	Pravastatin	Pravastatin results in decreased expression of AXIN2 mRNA	27225895
D011374	Progesterone	Progesterone results in decreased expression of AXIN2 mRNA	23012394
D011374	Progesterone	[Estradiol co-treated with Progesterone] results in decreased expression of AXIN2 mRNA	20660070
C024631	pyrvinium	pyrvinium results in decreased expression of AXIN2 mRNA	21170416
D011794	Quercetin	Quercetin results in decreased expression of AXIN2 mRNA	21632981; 30152185;
D011794	Quercetin	Quercetin inhibits the reaction [[Warfarin co-treated with Vitamin K] results in increased expression of AXIN2 mRNA]	23117658
D011794	Quercetin	Quercetin inhibits the reaction [Warfarin results in increased expression of AXIN2 mRNA]	23117658
D000077185	Resveratrol	Resveratrol results in decreased expression of AXIN2 mRNA	21188121
D000077185	Resveratrol	Resveratrol results in decreased expression of AXIN2 protein	21291235
D000077185	Resveratrol	Resveratrol results in decreased expression of AXIN2 mRNA	22935447
D000077185	Resveratrol	Resveratrol results in decreased expression of AXIN2 protein	22935447
D000077185	Resveratrol	Resveratrol results in increased expression of AXIN2 mRNA	23848300
D000077154	Rosiglitazone	Rosiglitazone results in decreased expression of AXIN2 mRNA	21515302
C025759	saikosaponin	saikosaponin results in increased expression of AXIN2 protein	31175886
C025759	saikosaponin	SB 216763 inhibits the reaction [saikosaponin results in increased expression of AXIN2 protein]	31175886
C417521	SB 216763	SB 216763 inhibits the reaction [saikosaponin results in increased expression of AXIN2 protein]	31175886
C417521	SB 216763	SB 216763 results in increased expression of AXIN2 mRNA	19228266; 19448134;
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of AXIN2 mRNA]	31150632
D012822	Silicon Dioxide	Silicon Dioxide analog affects the expression of AXIN2 mRNA	25895662
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of AXIN2 mRNA	23806026
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of AXIN2 mRNA	27095093
D018030	Silver Compounds	Silver Compounds results in increased expression of AXIN2 mRNA	29703973
D019821	Simvastatin	Simvastatin affects the expression of AXIN2 mRNA	19968183
C017947	sodium arsenite	[Folic Acid co-treated with sodium arsenite] results in increased methylation of AXIN2 mRNA	22959928
C017947	sodium arsenite	sodium arsenite results in increased expression of AXIN2 mRNA	31170414
C075117	squalestatin 1	squalestatin 1 affects the expression of AXIN2 mRNA	27225895
C501413	tesaglitazar	tesaglitazar results in decreased expression of AXIN2 mRNA	21515302
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of AXIN2 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin binds to AHR protein] which results in increased expression of AXIN2 mRNA	16214954
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of AXIN2 mRNA	18796159; 19933214;
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin binds to and results in increased activity of AHR protein] which results in decreased expression of AXIN2 mRNA	21602191
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of AXIN2 mRNA	30291989
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of AXIN2 mRNA	28065790
D014212	Tretinoin	Tretinoin results in decreased expression of AXIN2 mRNA	20530235
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 AXIN2 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of AXIN2 mRNA	24935251; 26272509;
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of AXIN2 mRNA	26179874
D000077288	Troglitazone	Troglitazone results in decreased expression of AXIN2 mRNA	21515302
D014635	Valproic Acid	Valproic Acid affects the expression of AXIN2 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of AXIN2 mRNA	23179753; 27188386;
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of AXIN2 gene	25560391
D014812	Vitamin K	Quercetin inhibits the reaction [[Warfarin co-treated with Vitamin K] results in increased expression of AXIN2 mRNA]	23117658
D014812	Vitamin K	[Warfarin co-treated with Vitamin K] results in increased expression of AXIN2 mRNA	23117658
D000077337	Vorinostat	[NOG protein co-treated with Vorinostat 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 AXIN2 mRNA	27188386
D000077337	Vorinostat	Vorinostat results in increased expression of AXIN2 mRNA	26272509
D014859	Warfarin	Quercetin inhibits the reaction [[Warfarin co-treated with Vitamin K] results in increased expression of AXIN2 mRNA]	23117658
D014859	Warfarin	Quercetin inhibits the reaction [Warfarin results in increased expression of AXIN2 mRNA]	23117658
D014859	Warfarin	[Warfarin co-treated with Vitamin K] results in increased expression of AXIN2 mRNA	23117658
D014859	Warfarin	Warfarin results in increased expression of AXIN2 mRNA	23117658
C544261	XAV939	[3,4,5,3',4'-pentachlorobiphenyl co-treated with XAV939] results in increased expression of AXIN2 mRNA	25711857
C544261	XAV939	[XAV939 co-treated with 6-formylindolo(3,2-b)carbazole] results in increased expression of AXIN2 mRNA	25711857
C544261	XAV939	XAV939 results in decreased expression of AXIN2 mRNA	25711857
C544261	XAV939	XAV939 inhibits the reaction [Lithium Chloride results in increased expression of AXIN2 mRNA]	24534281

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0013	ADP-ribosylation
KW-0963	Cytoplasm
KW-0217	Developmental protein
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0832	Ubl conjugation
KW-0879	Wnt signaling pathway

Interpro

InterPro ID	InterPro Term
IPR014936	Axin_b-cat-bd
IPR032101	Axin_TNKS-bd
IPR001158	DIX
IPR038207	DIX_dom_sf
IPR016137	RGS
IPR036305	RGS_sf
IPR024066	RGS_subdom1/3
IPR029071	Ubiquitin-like_domsf

PROSITE

PROSITE ID	PROSITE Term
PS50841	DIX
PS50132	RGS

Pfam

Pfam ID	Pfam Term
PF16646	AXIN1_TNKS_BD
PF08833	Axin_b-cat_bind
PF00778	DIX
PF00615	RGS

Gene: AXIN2

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

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

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