CleftGeneDB-Search

Gene: WNT3

Basic information

Tag	Content
Uniprot ID	P56703; Q2M237; Q9H1J9;
Entrez ID	7473
Genbank protein ID	AAI14220.1; AAI12119.1; AAG38657.1; AAI12117.1; BAB70502.1;
Genbank nucleotide ID	NM_030753.4
Ensembl protein ID	ENSP00000478327; ENSP00000480990; ENSP00000225512;
Ensembl nucleotide ID	ENSG00000108379; ENSG00000277626; ENSG00000277641;
Gene name	Proto-oncogene Wnt-3
Gene symbol	WNT3
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CL/P
Developmental stage
Data sources	Manually collected
Reference	22288914; 26505415;
Functional description	Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt signaling pathway that results in activation of transcription factors of the TCF/LEF family (PubMed:26902720). Required for normal gastrulation, formation of the primitive streak, and for the formation of the mesoderm during early embryogenesis. Required for normal formation of the apical ectodermal ridge (By similarity). Required for normal embryonic development, and especially for limb development (PubMed:14872406).
Sequence	MEPHLLGLLL GLLLGGTRVL AGYPIWWSLA LGQQYTSLGS QPLLCGSIPG LVPKQLRFCR 60 NYIEIMPSVA EGVKLGIQEC QHQFRGRRWN CTTIDDSLAI FGPVLDKATR ESAFVHAIAS 120 AGVAFAVTRS CAEGTSTICG CDSHHKGPPG EGWKWGGCSE DADFGVLVSR EFADARENRP 180 DARSAMNKHN NEAGRTTILD HMHLKCKCHG LSGSCEVKTC WWAQPDFRAI GDFLKDKYDS 240 ASEMVVEKHR ESRGWVETLR AKYSLFKPPT ERDLVYYENS PNFCEPNPET GSFGTRDRTC 300 NVTSHGIDGC DLLCCGRGHN TRTEKRKEKC HCIFHWCCYV SCQECIRIYD VHTCK 355

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
6AHY

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	WNT3		A0A452F7A0		Capra hircus	Prediction	More>>
1:1 ortholog	WNT3	7473	P56703	CL/P	Homo sapiens	Publication	More>>
1:1 ortholog	Wnt3	22415	P17553		Mus musculus	Prediction	More>>
1:1 ortholog			A0A4X1TEB6		Sus scrofa	Prediction	More>>
1:1 ortholog	WNT3	100009033	G1T851		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Wnt3	24882	D3ZCR1		Rattus norvegicus	Prediction	More>>
1:1 ortholog	wnt3	569420	B0LK22		Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
WNT3	rs3809857G>T	PCR-RFLP	26505415
WNT3	rs9890413A>G	PCR-RFLP	26505415
WNT3	rs3809857G>T	PCR-RFLP	22288914
WNT3	rs3809857G>T (protective)	PCR-RFLP	30090211

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1308722818	p.His4Tyr	missense variant	-	NC_000017.11:g.46818588G>A	gnomAD
rs140453711	p.Leu5Met	missense variant	-	NC_000017.11:g.46818585G>T	ESP,ExAC,TOPMed,gnomAD
rs896697492	p.Leu6Phe	missense variant	-	NC_000017.11:g.46818582G>A	gnomAD
NCI-TCGA novel	p.Gly7Val	missense variant	-	NC_000017.11:g.46818578C>A	NCI-TCGA
rs201405122	p.Leu8Gln	missense variant	-	NC_000017.11:g.46818575A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs368670499	p.Leu9Phe	missense variant	-	NC_000017.11:g.46818573G>A	ESP,ExAC,gnomAD
rs1483817376	p.Gly11Cys	missense variant	-	NC_000017.11:g.46818567C>A	TOPMed,gnomAD
rs1443853881	p.Gly11Asp	missense variant	-	NC_000017.11:g.46818566C>T	gnomAD
rs1353647597	p.Leu14Phe	missense variant	-	NC_000017.11:g.46818558G>A	TOPMed
rs373944077	p.Gly15Ser	missense variant	-	NC_000017.11:g.46818555C>T	ESP,TOPMed,gnomAD
rs1411800344	p.Gly15Asp	missense variant	-	NC_000017.11:g.46818554C>T	gnomAD
rs1302729316	p.Gly16Asp	missense variant	-	NC_000017.11:g.46818551C>T	TOPMed,gnomAD
rs898700816	p.Gly16Ser	missense variant	-	NC_000017.11:g.46818552C>T	gnomAD
rs1302729316	p.Gly16Val	missense variant	-	NC_000017.11:g.46818551C>A	TOPMed,gnomAD
rs886044337	p.Thr17Ser	missense variant	-	NC_000017.11:g.46818548G>C	-
RCV000367585	p.Thr17Ser	missense variant	-	NC_000017.11:g.46818548G>C	ClinVar
rs781416274	p.Arg18Ser	missense variant	-	NC_000017.11:g.46818544C>G	ExAC,gnomAD
rs1400620052	p.Val19Leu	missense variant	-	NC_000017.11:g.46818543C>G	gnomAD
rs1413404583	p.Val19Gly	missense variant	-	NC_000017.11:g.46818542A>C	gnomAD
rs747436207	p.Gly22Ser	missense variant	-	NC_000017.11:g.46818534C>T	ExAC,TOPMed,gnomAD
rs1488607151	p.Pro24Ser	missense variant	-	NC_000017.11:g.46818528G>A	gnomAD
rs778078174	p.Ile25Val	missense variant	-	NC_000017.11:g.46818525T>C	ExAC,TOPMed,gnomAD
rs1327582900	p.Ile25Met	missense variant	-	NC_000017.11:g.46818523A>C	gnomAD
rs1213455330	p.Trp26Leu	missense variant	-	NC_000017.11:g.46818521C>A	gnomAD
COSM706056	p.Leu31Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46773899G>C	NCI-TCGA Cosmic
COSM980341	p.Gly32Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46773895C>T	NCI-TCGA Cosmic
rs370016891	p.Gly32Ser	missense variant	-	NC_000017.11:g.46773896C>T	ESP,ExAC,TOPMed,gnomAD
rs1300279028	p.Gln34Ter	stop gained	-	NC_000017.11:g.46773890G>A	gnomAD
rs939897615	p.Tyr35His	missense variant	-	NC_000017.11:g.46773887A>G	TOPMed
rs771221427	p.Thr36Ile	missense variant	-	NC_000017.11:g.46773883G>A	ExAC,gnomAD
rs939134415	p.Ser37Tyr	missense variant	-	NC_000017.11:g.46773880G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gly39Cys	missense variant	-	NC_000017.11:g.46773875C>A	NCI-TCGA
rs747207186	p.Gly39Asp	missense variant	-	NC_000017.11:g.46773874C>T	ExAC,TOPMed,gnomAD
rs1466142390	p.Ser40Leu	missense variant	-	NC_000017.11:g.46773871G>A	gnomAD
rs1224474746	p.Leu43Pro	missense variant	-	NC_000017.11:g.46773862A>G	TOPMed
rs376610330	p.Gly46Ser	missense variant	-	NC_000017.11:g.46773854C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro49Ser	missense variant	-	NC_000017.11:g.46773845G>A	NCI-TCGA
rs755426927	p.Pro53Leu	missense variant	-	NC_000017.11:g.46773832G>A	ExAC,gnomAD
rs745450126	p.Lys54Gln	missense variant	-	NC_000017.11:g.46773830T>G	ExAC,gnomAD
rs1285314376	p.Lys54Arg	missense variant	-	NC_000017.11:g.46773829T>C	gnomAD
rs757020950	p.Arg57Pro	missense variant	-	NC_000017.11:g.46773820C>G	ExAC,gnomAD
COSM4067189	p.Arg57His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46773820C>T	NCI-TCGA Cosmic
rs1277199971	p.Phe58Leu	missense variant	-	NC_000017.11:g.46773818A>G	gnomAD
rs758209963	p.Arg60His	missense variant	-	NC_000017.11:g.46773811C>T	ExAC,TOPMed,gnomAD
rs766987789	p.Arg60Cys	missense variant	-	NC_000017.11:g.46773812G>A	ExAC,gnomAD
COSM3402953	p.Asn61Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46773809T>C	NCI-TCGA Cosmic
rs1314013087	p.Ile63Val	missense variant	-	NC_000017.11:g.46773803T>C	gnomAD
COSM3819797	p.Met66Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46773792C>A	NCI-TCGA Cosmic
COSM1270501	p.Met66Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46773792C>T	NCI-TCGA Cosmic
COSM3889780	p.Ala70Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46773781G>A	NCI-TCGA Cosmic
rs765281954	p.Glu71Lys	missense variant	-	NC_000017.11:g.46773779C>T	ExAC,TOPMed,gnomAD
rs759357140	p.Ile77Val	missense variant	-	NC_000017.11:g.46773761T>C	ExAC,gnomAD
rs1248506791	p.Cys80Gly	missense variant	-	NC_000017.11:g.46773752A>C	gnomAD
rs104894653	p.Gln83Ter	stop gained	-	NC_000017.11:g.46773743G>A	-
RCV000014823	p.Gln83Ter	nonsense	Tetraamelia, autosomal recessive (TETAMS1)	NC_000017.11:g.46773743G>A	ClinVar
rs1483494147	p.Arg85Gln	missense variant	-	NC_000017.11:g.46773736C>T	TOPMed,gnomAD
rs776819489	p.Arg85Trp	missense variant	-	NC_000017.11:g.46773737G>A	ExAC,TOPMed,gnomAD
rs766394226	p.Gly86Ala	missense variant	-	NC_000017.11:g.46773733C>G	ExAC,gnomAD
rs766394226	p.Gly86Val	missense variant	-	NC_000017.11:g.46773733C>A	ExAC,gnomAD
rs772443949	p.Arg87His	missense variant	-	NC_000017.11:g.46773730C>T	ExAC,TOPMed,gnomAD
rs773358698	p.Arg87Cys	missense variant	-	NC_000017.11:g.46773731G>A	ExAC,gnomAD
RCV000172899	p.Cys91Arg	missense variant	Exstrophy-epispadias complex (BEEC)	NC_000017.11:g.46773719A>G	ClinVar
rs786205887	p.Cys91Arg	missense variant	-	NC_000017.11:g.46773719A>G	-
rs1315719628	p.Ile94Thr	missense variant	-	NC_000017.11:g.46773709A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ile94Leu	missense variant	-	NC_000017.11:g.46773710T>A	NCI-TCGA
rs1452765136	p.Asp96His	missense variant	-	NC_000017.11:g.46773704C>G	gnomAD
COSM3518413	p.Asp96Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46773704C>T	NCI-TCGA Cosmic
rs774576666	p.Leu98Gln	missense variant	-	NC_000017.11:g.46773697A>T	ExAC,TOPMed,gnomAD
rs780778750	p.Val104Ile	missense variant	-	NC_000017.11:g.46773680C>T	ExAC,TOPMed,gnomAD
rs746671229	p.Asp106Asn	missense variant	-	NC_000017.11:g.46773674C>T	ExAC,TOPMed,gnomAD
rs746671229	p.Asp106Tyr	missense variant	-	NC_000017.11:g.46773674C>A	ExAC,TOPMed,gnomAD
rs1362697335	p.Glu111Lys	missense variant	-	NC_000017.11:g.46770040C>T	gnomAD
rs1435705558	p.Ala113Ser	missense variant	-	NC_000017.11:g.46770034C>A	gnomAD
NCI-TCGA novel	p.His116ArgPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.46770023_46770024GT>-	NCI-TCGA
rs1428067168	p.Ile118Val	missense variant	-	NC_000017.11:g.46770019T>C	gnomAD
rs756045478	p.Gly122Ala	missense variant	-	NC_000017.11:g.46770006C>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly122Asp	missense variant	-	NC_000017.11:g.46770006C>T	NCI-TCGA
rs1441287140	p.Phe125Tyr	missense variant	-	NC_000017.11:g.46769997A>T	TOPMed,gnomAD
rs751693839	p.Ala126Thr	missense variant	-	NC_000017.11:g.46769995C>T	ExAC,gnomAD
rs1339718933	p.Ala126Val	missense variant	-	NC_000017.11:g.46769994G>A	gnomAD
rs1228917258	p.Thr128Ile	missense variant	-	NC_000017.11:g.46769988G>A	gnomAD
rs954922524	p.Ser130Phe	missense variant	-	NC_000017.11:g.46769982G>A	TOPMed,gnomAD
rs1341068511	p.Cys131Tyr	missense variant	-	NC_000017.11:g.46769979C>T	gnomAD
rs765884429	p.Ala132Ser	missense variant	-	NC_000017.11:g.46769977C>A	ExAC,gnomAD
rs765884429	p.Ala132Thr	missense variant	-	NC_000017.11:g.46769977C>T	ExAC,gnomAD
rs760094608	p.Gly134Asp	missense variant	-	NC_000017.11:g.46769970C>T	ExAC,gnomAD
rs771441245	p.Thr135Ala	missense variant	-	NC_000017.11:g.46769968T>C	ExAC,gnomAD
rs1163127102	p.Thr137Pro	missense variant	-	NC_000017.11:g.46769962T>G	gnomAD
rs1473415899	p.Ile138Thr	missense variant	-	NC_000017.11:g.46769958A>G	TOPMed,gnomAD
rs1237548572	p.Gly140Ala	missense variant	-	NC_000017.11:g.46769952C>G	gnomAD
rs1232484872	p.Gly140Ser	missense variant	-	NC_000017.11:g.46769953C>T	TOPMed
rs1189503846	p.Asp142Glu	missense variant	-	NC_000017.11:g.46769945G>C	gnomAD
rs374646467	p.Ser143Leu	missense variant	-	NC_000017.11:g.46769943G>A	ESP,ExAC,TOPMed,gnomAD
rs768344495	p.His144Pro	missense variant	-	NC_000017.11:g.46769940T>G	ExAC,gnomAD
rs1343963521	p.His145Tyr	missense variant	-	NC_000017.11:g.46769938G>A	gnomAD
rs749108256	p.Lys146Glu	missense variant	-	NC_000017.11:g.46769935T>C	ExAC,TOPMed,gnomAD
rs779793771	p.Lys146Asn	missense variant	-	NC_000017.11:g.46769933C>A	ExAC
rs1286011024	p.Glu151Lys	missense variant	-	NC_000017.11:g.46769920C>T	gnomAD
rs781282951	p.Glu151Asp	missense variant	-	NC_000017.11:g.46769918T>A	ExAC,gnomAD
rs1452528986	p.Trp153Cys	missense variant	-	NC_000017.11:g.46769912C>A	TOPMed
rs1349987904	p.Cys158Gly	missense variant	-	NC_000017.11:g.46769899A>C	gnomAD
rs1395471029	p.Cys158Tyr	missense variant	-	NC_000017.11:g.46769898C>T	TOPMed
rs757224064	p.Glu160Lys	missense variant	-	NC_000017.11:g.46769893C>T	ExAC,gnomAD
rs1408996739	p.Asp161Tyr	missense variant	-	NC_000017.11:g.46769890C>A	TOPMed
COSM4067187	p.Ala162Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46769886G>A	NCI-TCGA Cosmic
rs985420838	p.Asp163Asn	missense variant	-	NC_000017.11:g.46769884C>T	gnomAD
rs751644315	p.Asp163Glu	missense variant	-	NC_000017.11:g.46769882G>C	ExAC,TOPMed,gnomAD
rs985420838	p.Asp163Tyr	missense variant	-	NC_000017.11:g.46769884C>A	gnomAD
rs143350900	p.Val168Leu	missense variant	-	NC_000017.11:g.46769869C>A	ESP,ExAC,TOPMed,gnomAD
COSM3518412	p.Glu171Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46769860C>T	NCI-TCGA Cosmic
rs139902701	p.Ala173Val	missense variant	-	NC_000017.11:g.46769853G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM4741407	p.Arg176His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46769844C>T	NCI-TCGA Cosmic
COSM1383862	p.Glu177Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46769842C>T	NCI-TCGA Cosmic
rs1244749716	p.Asn178Tyr	missense variant	-	NC_000017.11:g.46769839T>A	gnomAD
rs773911958	p.Asn178Lys	missense variant	-	NC_000017.11:g.46769837G>C	ExAC,TOPMed,gnomAD
rs773911958	p.Asn178Lys	missense variant	-	NC_000017.11:g.46769837G>T	ExAC,TOPMed,gnomAD
rs1346223556	p.Pro180Leu	missense variant	-	NC_000017.11:g.46769832G>A	TOPMed
rs1271201049	p.Asp181His	missense variant	-	NC_000017.11:g.46769830C>G	TOPMed
COSM5473901	p.Ala182Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46769826G>A	NCI-TCGA Cosmic
rs146457750	p.Arg183His	missense variant	-	NC_000017.11:g.46769823C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser184Leu	missense variant	-	NC_000017.11:g.46769820G>A	NCI-TCGA
rs1289072372	p.Met186Thr	missense variant	-	NC_000017.11:g.46769814A>G	gnomAD
NCI-TCGA novel	p.Asn190Ser	missense variant	-	NC_000017.11:g.46769802T>C	NCI-TCGA
rs949357754	p.Glu192Lys	missense variant	-	NC_000017.11:g.46769797C>T	TOPMed
NCI-TCGA novel	p.Glu192Gln	missense variant	-	NC_000017.11:g.46769797C>G	NCI-TCGA
rs747097936	p.Gly194Arg	missense variant	-	NC_000017.11:g.46769791C>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg195His	missense variant	-	NC_000017.11:g.46769787C>T	NCI-TCGA
rs772208937	p.Ile198Leu	missense variant	-	NC_000017.11:g.46768796T>G	ExAC,gnomAD
rs772208937	p.Ile198Val	missense variant	-	NC_000017.11:g.46768796T>C	ExAC,gnomAD
rs1166453534	p.Leu204Phe	missense variant	-	NC_000017.11:g.46768778G>A	gnomAD
NCI-TCGA novel	p.Gly210Arg	missense variant	-	NC_000017.11:g.46768760C>T	NCI-TCGA
NCI-TCGA novel	p.Gly210Trp	missense variant	-	NC_000017.11:g.46768760C>A	NCI-TCGA
rs786205889	p.Gly213Asp	missense variant	-	NC_000017.11:g.46768750C>T	-
RCV000172906	p.Gly213Asp	missense variant	Exstrophy-epispadias complex (BEEC)	NC_000017.11:g.46768750C>T	ClinVar
rs1255537902	p.Gly213Ser	missense variant	-	NC_000017.11:g.46768751C>T	gnomAD
NCI-TCGA novel	p.Glu216Gln	missense variant	-	NC_000017.11:g.46768742C>G	NCI-TCGA
rs1244561458	p.Val217Ala	missense variant	-	NC_000017.11:g.46768738A>G	gnomAD
NCI-TCGA novel	p.Val217Leu	missense variant	-	NC_000017.11:g.46768739C>G	NCI-TCGA
rs1486757249	p.Thr219Ser	missense variant	-	NC_000017.11:g.46768733T>A	gnomAD
NCI-TCGA novel	p.Trp222Ter	stop gained	-	NC_000017.11:g.46768723C>T	NCI-TCGA
rs754298042	p.Ala223Val	missense variant	-	NC_000017.11:g.46768720G>A	ExAC,TOPMed,gnomAD
rs754298042	p.Ala223Val	missense variant	-	NC_000017.11:g.46768720G>A	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp226His	missense variant	-	NC_000017.11:g.46768712C>G	NCI-TCGA
rs1253456656	p.Arg228Cys	missense variant	-	NC_000017.11:g.46768706G>A	gnomAD
rs780448017	p.Arg228His	missense variant	-	NC_000017.11:g.46768705C>T	NCI-TCGA,NCI-TCGA Cosmic
rs780448017	p.Arg228His	missense variant	-	NC_000017.11:g.46768705C>T	ExAC,TOPMed,gnomAD
rs1297668559	p.Ala229Thr	missense variant	-	NC_000017.11:g.46768703C>T	gnomAD
rs375210034	p.Ile230Val	missense variant	-	NC_000017.11:g.46768700T>C	ESP,ExAC,TOPMed,gnomAD
rs1233413311	p.Gly231Ser	missense variant	-	NC_000017.11:g.46768697C>T	gnomAD
NCI-TCGA novel	p.Gly231Asp	missense variant	-	NC_000017.11:g.46768696C>T	NCI-TCGA
rs763517587	p.Asp232Gly	missense variant	-	NC_000017.11:g.46768693T>C	ExAC,TOPMed,gnomAD
rs1408840375	p.Lys235Asn	missense variant	-	NC_000017.11:g.46768683C>G	gnomAD
rs764908004	p.Ser240Arg	missense variant	-	NC_000017.11:g.46768668G>T	ExAC,gnomAD
rs752197956	p.Ser240Thr	missense variant	-	NC_000017.11:g.46768669C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala241Val	missense variant	-	NC_000017.11:g.46768666G>A	NCI-TCGA
rs759165713	p.Ala241Thr	missense variant	-	NC_000017.11:g.46768667C>T	ExAC,gnomAD
rs759165713	p.Ala241Thr	missense variant	-	NC_000017.11:g.46768667C>T	NCI-TCGA
rs770718548	p.Ser242Trp	missense variant	-	NC_000017.11:g.46768663G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu243Asp	missense variant	-	NC_000017.11:g.46768659C>A	NCI-TCGA
rs760532705	p.Arg250Leu	missense variant	-	NC_000017.11:g.46768639C>A	ExAC,gnomAD
COSM1270502	p.Arg250His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46768639C>T	NCI-TCGA Cosmic
rs1444493326	p.Arg253Gln	missense variant	-	NC_000017.11:g.46768630C>T	TOPMed
rs1335027382	p.Arg253Ter	stop gained	-	NC_000017.11:g.46768631G>A	NCI-TCGA Cosmic
rs1335027382	p.Arg253Ter	stop gained	-	NC_000017.11:g.46768631G>A	TOPMed
NCI-TCGA novel	p.Gly254Val	missense variant	-	NC_000017.11:g.46768627C>A	NCI-TCGA
rs773142859	p.Val256Met	missense variant	-	NC_000017.11:g.46768622C>T	ExAC,gnomAD
rs1488424377	p.Arg260Gln	missense variant	-	NC_000017.11:g.46768609C>T	gnomAD
rs1208483398	p.Arg260Gly	missense variant	-	NC_000017.11:g.46768610G>C	gnomAD
NCI-TCGA novel	p.Ala261Pro	missense variant	-	NC_000017.11:g.46768607C>G	NCI-TCGA
NCI-TCGA novel	p.Lys262Asn	missense variant	-	NC_000017.11:g.46768602C>A	NCI-TCGA
rs1266510350	p.Ser264Trp	missense variant	-	NC_000017.11:g.46768597G>C	gnomAD
rs886053073	p.Lys267Arg	missense variant	-	NC_000017.11:g.46768588T>C	gnomAD
RCV000349916	p.Lys267Arg	missense variant	Tetraamelia, autosomal recessive (TETAMS1)	NC_000017.11:g.46768588T>C	ClinVar
rs1253932905	p.Thr270Met	missense variant	-	NC_000017.11:g.46768579G>A	TOPMed
NCI-TCGA novel	p.Glu271Lys	missense variant	-	NC_000017.11:g.46768577C>T	NCI-TCGA
rs1227379658	p.Arg272Lys	missense variant	-	NC_000017.11:g.46768573C>T	gnomAD
rs1384823983	p.Tyr276Asn	missense variant	-	NC_000017.11:g.46768562A>T	gnomAD
rs1389773314	p.Pro281Ser	missense variant	-	NC_000017.11:g.46768547G>A	gnomAD
COSM980336	p.Glu285Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46768535C>T	NCI-TCGA Cosmic
rs749481789	p.Glu289Val	missense variant	-	NC_000017.11:g.46768522T>A	ExAC,gnomAD
rs780318283	p.Gly291Asp	missense variant	-	NC_000017.11:g.46768516C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly294Ser	missense variant	-	NC_000017.11:g.46768508C>T	NCI-TCGA
COSM3518411	p.Asp297Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46768499C>T	NCI-TCGA Cosmic
COSM4067185	p.Arg298Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46768495C>T	NCI-TCGA Cosmic
COSM188343	p.Arg298Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46768496G>A	NCI-TCGA Cosmic
rs1240376838	p.Thr299Ile	missense variant	-	NC_000017.11:g.46768492G>A	TOPMed
rs1043363244	p.Asn301Ser	missense variant	-	NC_000017.11:g.46768486T>C	TOPMed,gnomAD
rs1376092571	p.Ser304Phe	missense variant	-	NC_000017.11:g.46768477G>A	TOPMed
rs536348987	p.His305Pro	missense variant	-	NC_000017.11:g.46768474T>G	1000Genomes,ExAC,gnomAD
rs200319318	p.His305Gln	missense variant	-	NC_000017.11:g.46768473G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His305Tyr	missense variant	-	NC_000017.11:g.46768475G>A	NCI-TCGA
rs757727243	p.Gly306Ser	missense variant	-	NC_000017.11:g.46768472C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly306Asp	missense variant	-	NC_000017.11:g.46768471C>T	NCI-TCGA
rs757727243	p.Gly306Ser	missense variant	-	NC_000017.11:g.46768472C>T	NCI-TCGA
rs1463977312	p.Ile307Thr	missense variant	-	NC_000017.11:g.46768468A>G	gnomAD
rs754656610	p.Asp308His	missense variant	-	NC_000017.11:g.46768466C>G	ExAC,TOPMed,gnomAD
rs754656610	p.Asp308Asn	missense variant	-	NC_000017.11:g.46768466C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly309Asp	missense variant	-	NC_000017.11:g.46768462C>T	NCI-TCGA
NCI-TCGA novel	p.Asp311Asn	missense variant	-	NC_000017.11:g.46768457C>T	NCI-TCGA
NCI-TCGA novel	p.Gly318Asp	missense variant	-	NC_000017.11:g.46768435C>T	NCI-TCGA
rs760574450	p.His319Pro	missense variant	-	NC_000017.11:g.46768432T>G	ExAC,gnomAD
rs766100258	p.His319Tyr	missense variant	-	NC_000017.11:g.46768433G>A	ExAC,gnomAD
rs760574450	p.His319Arg	missense variant	-	NC_000017.11:g.46768432T>C	ExAC,gnomAD
rs1303969028	p.Thr321Met	missense variant	-	NC_000017.11:g.46768426G>A	NCI-TCGA Cosmic
rs1303969028	p.Thr321Met	missense variant	-	NC_000017.11:g.46768426G>A	TOPMed,gnomAD
rs1363009249	p.Arg322Gly	missense variant	-	NC_000017.11:g.46768424T>C	gnomAD
rs1319940652	p.Thr323Met	missense variant	-	NC_000017.11:g.46768420G>A	gnomAD
rs761820418	p.Lys325Asn	missense variant	-	NC_000017.11:g.46768413C>A	ExAC,gnomAD
rs774595709	p.Arg326Gly	missense variant	-	NC_000017.11:g.46768412G>C	ExAC,TOPMed,gnomAD
rs768821285	p.Arg326Gln	missense variant	-	NC_000017.11:g.46768411C>T	ExAC,gnomAD
rs774595709	p.Arg326Trp	missense variant	-	NC_000017.11:g.46768412G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys329Thr	missense variant	-	NC_000017.11:g.46768402T>G	NCI-TCGA
NCI-TCGA novel	p.Cys330Tyr	missense variant	-	NC_000017.11:g.46768399C>T	NCI-TCGA
rs141597258	p.His331Tyr	missense variant	-	NC_000017.11:g.46768397G>A	ESP,ExAC
rs370821059	p.Ile333Val	missense variant	-	NC_000017.11:g.46768391T>C	ESP,gnomAD
NCI-TCGA novel	p.Phe334Tyr	missense variant	-	NC_000017.11:g.46768387A>T	NCI-TCGA
NCI-TCGA novel	p.Trp336Ter	stop gained	-	NC_000017.11:g.46768380C>T	NCI-TCGA
COSM4067184	p.Cys337Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46768379A>G	NCI-TCGA Cosmic
rs1247905509	p.Cys338Tyr	missense variant	-	NC_000017.11:g.46768375C>T	gnomAD
NCI-TCGA novel	p.Cys338Ter	stop gained	-	NC_000017.11:g.46768374G>T	NCI-TCGA
rs1233589568	p.Tyr339Asn	missense variant	-	NC_000017.11:g.46768373A>T	TOPMed
rs1447018286	p.Val340Ile	missense variant	-	NC_000017.11:g.46768370C>T	gnomAD
rs1447018286	p.Val340Ile	missense variant	-	NC_000017.11:g.46768370C>T	NCI-TCGA Cosmic
rs1197275644	p.Cys342Phe	missense variant	-	NC_000017.11:g.46768363C>A	TOPMed
rs747471187	p.Glu344Gly	missense variant	-	NC_000017.11:g.46768357T>C	ExAC,gnomAD
rs1208822915	p.Ile346Met	missense variant	-	NC_000017.11:g.46768350A>C	gnomAD
rs778399124	p.Arg347His	missense variant	-	NC_000017.11:g.46768348C>T	ExAC,gnomAD
COSM3518410	p.Arg347Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46768349G>A	NCI-TCGA Cosmic
rs778399124	p.Arg347His	missense variant	-	NC_000017.11:g.46768348C>T	NCI-TCGA
rs147306984	p.Asp350Asn	missense variant	-	NC_000017.11:g.46768340C>T	ESP,ExAC,TOPMed,gnomAD
rs1265723023	p.Val351Met	missense variant	-	NC_000017.11:g.46768337C>T	TOPMed
rs766125270	p.His352Asn	missense variant	-	NC_000017.11:g.46768334G>T	ExAC,TOPMed,gnomAD
rs755692563	p.Thr353Asn	missense variant	-	NC_000017.11:g.46768330G>T	ExAC,gnomAD
rs1376336260	p.Ter356Gln	stop lost	-	NC_000017.11:g.46768322A>G	gnomAD
rs1308722818	p.His4Tyr	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113812G>A	gnomAD
rs140453711	p.Leu5Met	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113809G>T	ESP,ExAC,TOPMed,gnomAD
rs896697492	p.Leu6Phe	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113806G>A	gnomAD
rs201405122	p.Leu8Gln	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113799A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs368670499	p.Leu9Phe	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113797G>A	ESP,ExAC,gnomAD
rs1483817376	p.Gly11Cys	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113791C>A	TOPMed,gnomAD
rs1443853881	p.Gly11Asp	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113790C>T	gnomAD
rs1353647597	p.Leu14Phe	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113782G>A	TOPMed
rs1411800344	p.Gly15Asp	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113778C>T	gnomAD
rs373944077	p.Gly15Ser	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113779C>T	ESP,TOPMed,gnomAD
rs1302729316	p.Gly16Asp	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113775C>T	TOPMed,gnomAD
rs898700816	p.Gly16Ser	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113776C>T	gnomAD
rs1302729316	p.Gly16Val	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113775C>A	TOPMed,gnomAD
rs781416274	p.Arg18Ser	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113768C>G	ExAC,gnomAD
rs1400620052	p.Val19Leu	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113767C>G	gnomAD
rs1413404583	p.Val19Gly	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113766A>C	gnomAD
rs747436207	p.Gly22Ser	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113758C>T	ExAC,TOPMed,gnomAD
rs1488607151	p.Pro24Ser	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113752G>A	gnomAD
rs778078174	p.Ile25Val	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113749T>C	ExAC,TOPMed,gnomAD
rs1327582900	p.Ile25Met	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113747A>C	gnomAD
rs1213455330	p.Trp26Leu	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113745C>A	gnomAD
rs370016891	p.Gly32Ser	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069267C>T	ESP,ExAC,TOPMed,gnomAD
rs1300279028	p.Gln34Ter	stop gained	-	CHR_HSCHR17_1_CTG5:g.47069261G>A	gnomAD
rs939897615	p.Tyr35His	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069258A>G	TOPMed
rs771221427	p.Thr36Ile	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069254G>A	ExAC,gnomAD
rs939134415	p.Ser37Tyr	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069251G>T	TOPMed,gnomAD
rs747207186	p.Gly39Asp	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069245C>T	ExAC,TOPMed,gnomAD
rs1466142390	p.Ser40Leu	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069242G>A	gnomAD
rs1224474746	p.Leu43Pro	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069233A>G	TOPMed
rs376610330	p.Gly46Ser	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069225C>T	ESP,ExAC,TOPMed,gnomAD
rs755426927	p.Pro53Leu	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069203G>A	ExAC,gnomAD
rs745450126	p.Lys54Gln	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069201T>G	ExAC,gnomAD
rs1285314376	p.Lys54Arg	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069200T>C	gnomAD
rs757020950	p.Arg57Pro	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069191C>G	ExAC,gnomAD
rs1277199971	p.Phe58Leu	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069189A>G	gnomAD
rs758209963	p.Arg60His	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069182C>T	ExAC,TOPMed,gnomAD
rs766987789	p.Arg60Cys	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069183G>A	ExAC,gnomAD
rs1314013087	p.Ile63Val	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069174T>C	gnomAD
rs765281954	p.Glu71Lys	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069150C>T	ExAC,TOPMed,gnomAD
rs759357140	p.Ile77Val	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069132T>C	ExAC,gnomAD
rs1248506791	p.Cys80Gly	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069123A>C	gnomAD
rs776819489	p.Arg85Trp	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069108G>A	ExAC,TOPMed,gnomAD
rs1483494147	p.Arg85Gln	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069107C>T	TOPMed,gnomAD
rs766394226	p.Gly86Ala	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069104C>G	ExAC,gnomAD
rs766394226	p.Gly86Val	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069104C>A	ExAC,gnomAD
rs772443949	p.Arg87His	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069101C>T	ExAC,TOPMed,gnomAD
rs773358698	p.Arg87Cys	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069102G>A	ExAC,gnomAD
rs1315719628	p.Ile94Thr	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069080A>G	TOPMed,gnomAD
rs1452765136	p.Asp96His	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069075C>G	gnomAD
rs774576666	p.Leu98Gln	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069068A>T	ExAC,TOPMed,gnomAD
rs780778750	p.Val104Ile	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069051C>T	ExAC,TOPMed,gnomAD
rs746671229	p.Asp106Tyr	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069045C>A	ExAC,TOPMed,gnomAD
rs746671229	p.Asp106Asn	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069045C>T	ExAC,TOPMed,gnomAD
rs1362697335	p.Glu111Lys	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065416C>T	gnomAD
rs1435705558	p.Ala113Ser	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065410C>A	gnomAD
rs1428067168	p.Ile118Val	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065395T>C	gnomAD
rs756045478	p.Gly122Ala	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065382C>G	ExAC,gnomAD
rs1441287140	p.Phe125Tyr	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065373A>T	TOPMed,gnomAD
rs1339718933	p.Ala126Val	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065370G>A	gnomAD
rs751693839	p.Ala126Thr	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065371C>T	ExAC,gnomAD
rs1228917258	p.Thr128Ile	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065364G>A	gnomAD
rs954922524	p.Ser130Phe	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065358G>A	TOPMed,gnomAD
rs1341068511	p.Cys131Tyr	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065355C>T	gnomAD
rs765884429	p.Ala132Thr	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065353C>T	ExAC,gnomAD
rs765884429	p.Ala132Ser	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065353C>A	ExAC,gnomAD
rs760094608	p.Gly134Asp	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065346C>T	ExAC,gnomAD
rs771441245	p.Thr135Ala	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065344T>C	ExAC,gnomAD
rs1163127102	p.Thr137Pro	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065338T>G	gnomAD
rs1473415899	p.Ile138Thr	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065334A>G	TOPMed,gnomAD
rs1232484872	p.Gly140Ser	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065329C>T	TOPMed
rs1237548572	p.Gly140Ala	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065328C>G	gnomAD
rs1189503846	p.Asp142Glu	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065321G>C	gnomAD
rs374646467	p.Ser143Leu	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065319G>A	ESP,ExAC,TOPMed,gnomAD
rs768344495	p.His144Pro	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065316T>G	ExAC,gnomAD
rs1343963521	p.His145Tyr	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065314G>A	gnomAD
rs749108256	p.Lys146Glu	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065311T>C	ExAC,TOPMed,gnomAD
rs779793771	p.Lys146Asn	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065309C>A	ExAC
rs781282951	p.Glu151Asp	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065294T>A	ExAC,gnomAD
rs1286011024	p.Glu151Lys	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065296C>T	gnomAD
rs1452528986	p.Trp153Cys	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065288C>A	TOPMed
rs1349987904	p.Cys158Gly	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065275A>C	gnomAD
rs1395471029	p.Cys158Tyr	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065274C>T	TOPMed
rs757224064	p.Glu160Lys	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065269C>T	ExAC,gnomAD
rs1408996739	p.Asp161Tyr	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065266C>A	TOPMed
rs985420838	p.Asp163Asn	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065260C>T	gnomAD
rs985420838	p.Asp163Tyr	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065260C>A	gnomAD
rs751644315	p.Asp163Glu	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065258G>C	ExAC,TOPMed,gnomAD
rs143350900	p.Val168Leu	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065245C>A	ESP,ExAC,TOPMed,gnomAD
rs139902701	p.Ala173Val	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065229G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs773911958	p.Asn178Lys	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065213G>C	ExAC,TOPMed,gnomAD
rs1244749716	p.Asn178Tyr	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065215T>A	gnomAD
rs773911958	p.Asn178Lys	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065213G>T	ExAC,TOPMed,gnomAD
rs1346223556	p.Pro180Leu	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065208G>A	TOPMed
rs1271201049	p.Asp181His	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065206C>G	TOPMed
rs146457750	p.Arg183His	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065199C>T	ESP,ExAC,TOPMed,gnomAD
rs1289072372	p.Met186Thr	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065190A>G	gnomAD
rs949357754	p.Glu192Lys	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065173C>T	TOPMed
rs747097936	p.Gly194Arg	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065167C>G	ExAC,gnomAD
rs772208937	p.Ile198Leu	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064172T>G	ExAC,gnomAD
rs772208937	p.Ile198Val	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064172T>C	ExAC,gnomAD
rs1166453534	p.Leu204Phe	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064154G>A	gnomAD
rs1255537902	p.Gly213Ser	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064127C>T	gnomAD
rs1244561458	p.Val217Ala	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064114A>G	gnomAD
rs1486757249	p.Thr219Ser	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064109T>A	gnomAD
rs754298042	p.Ala223Val	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064096G>A	ExAC,TOPMed,gnomAD
rs1253456656	p.Arg228Cys	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064082G>A	gnomAD
rs780448017	p.Arg228His	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064081C>T	ExAC,TOPMed,gnomAD
rs1297668559	p.Ala229Thr	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064079C>T	gnomAD
rs375210034	p.Ile230Val	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064076T>C	ESP,ExAC,TOPMed,gnomAD
rs1233413311	p.Gly231Ser	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064073C>T	gnomAD
rs763517587	p.Asp232Gly	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064069T>C	ExAC,TOPMed,gnomAD
rs1408840375	p.Lys235Asn	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064059C>G	gnomAD
rs764908004	p.Ser240Arg	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064044G>T	ExAC,gnomAD
rs752197956	p.Ser240Thr	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064045C>G	ExAC,gnomAD
rs759165713	p.Ala241Thr	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064043C>T	ExAC,gnomAD
rs770718548	p.Ser242Trp	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064039G>C	ExAC,gnomAD
rs760532705	p.Arg250Leu	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064015C>A	ExAC,gnomAD
rs1444493326	p.Arg253Gln	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064006C>T	TOPMed
rs1335027382	p.Arg253Ter	stop gained	-	CHR_HSCHR17_1_CTG5:g.47064007G>A	TOPMed
rs773142859	p.Val256Met	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063998C>T	ExAC,gnomAD
rs1488424377	p.Arg260Gln	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063985C>T	gnomAD
rs1208483398	p.Arg260Gly	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063986G>C	gnomAD
rs1266510350	p.Ser264Trp	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063973G>C	gnomAD
rs886053073	p.Lys267Arg	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063964T>C	gnomAD
rs1253932905	p.Thr270Met	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063955G>A	TOPMed
rs1227379658	p.Arg272Lys	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063949C>T	gnomAD
rs1384823983	p.Tyr276Asn	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063938A>T	gnomAD
rs1389773314	p.Pro281Ser	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063923G>A	gnomAD
rs749481789	p.Glu289Val	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063898T>A	ExAC,gnomAD
rs780318283	p.Gly291Asp	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063892C>T	ExAC,gnomAD
rs1240376838	p.Thr299Ile	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063868G>A	TOPMed
rs1043363244	p.Asn301Ser	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063862T>C	TOPMed,gnomAD
rs1376092571	p.Ser304Phe	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063853G>A	TOPMed
rs536348987	p.His305Pro	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063850T>G	1000Genomes,ExAC,gnomAD
rs200319318	p.His305Gln	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063849G>C	ExAC,TOPMed,gnomAD
rs757727243	p.Gly306Ser	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063848C>T	ExAC,TOPMed,gnomAD
rs1463977312	p.Ile307Thr	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063844A>G	gnomAD
rs754656610	p.Asp308His	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063842C>G	ExAC,TOPMed,gnomAD
rs754656610	p.Asp308Asn	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063842C>T	ExAC,TOPMed,gnomAD
rs760574450	p.His319Arg	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063808T>C	ExAC,gnomAD
rs766100258	p.His319Tyr	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063809G>A	ExAC,gnomAD
rs760574450	p.His319Pro	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063808T>G	ExAC,gnomAD
rs1303969028	p.Thr321Met	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063802G>A	TOPMed,gnomAD
rs1363009249	p.Arg322Gly	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063800T>C	gnomAD
rs1319940652	p.Thr323Met	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063796G>A	gnomAD
rs761820418	p.Lys325Asn	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063789C>A	ExAC,gnomAD
rs774595709	p.Arg326Trp	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063788G>A	ExAC,TOPMed,gnomAD
rs768821285	p.Arg326Gln	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063787C>T	ExAC,gnomAD
rs774595709	p.Arg326Gly	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063788G>C	ExAC,TOPMed,gnomAD
rs141597258	p.His331Tyr	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063773G>A	ESP,ExAC
rs370821059	p.Ile333Val	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063767T>C	ESP,gnomAD
rs1247905509	p.Cys338Tyr	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063751C>T	gnomAD
rs1233589568	p.Tyr339Asn	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063749A>T	TOPMed
rs1447018286	p.Val340Ile	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063746C>T	gnomAD
rs1197275644	p.Cys342Phe	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063739C>A	TOPMed
rs747471187	p.Glu344Gly	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063733T>C	ExAC,gnomAD
rs1208822915	p.Ile346Met	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063726A>C	gnomAD
rs778399124	p.Arg347His	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063724C>T	ExAC,gnomAD
rs147306984	p.Asp350Asn	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063716C>T	ESP,ExAC,TOPMed,gnomAD
rs1265723023	p.Val351Met	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063713C>T	TOPMed
rs766125270	p.His352Asn	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063710G>T	ExAC,TOPMed,gnomAD
rs755692563	p.Thr353Asn	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063706G>T	ExAC,gnomAD
rs1376336260	p.Ter356Gln	stop lost	-	CHR_HSCHR17_1_CTG5:g.47063698A>G	gnomAD
rs1308722818	p.His4Tyr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647525G>A	gnomAD
rs140453711	p.Leu5Met	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647522G>T	ESP,ExAC,TOPMed,gnomAD
rs896697492	p.Leu6Phe	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647519G>A	gnomAD
rs201405122	p.Leu8Gln	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647512A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs368670499	p.Leu9Phe	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647510G>A	ESP,ExAC,gnomAD
rs1443853881	p.Gly11Asp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647503C>T	gnomAD
rs1483817376	p.Gly11Cys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647504C>A	TOPMed,gnomAD
rs1353647597	p.Leu14Phe	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647495G>A	TOPMed
rs373944077	p.Gly15Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647492C>T	ESP,TOPMed,gnomAD
rs1411800344	p.Gly15Asp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647491C>T	gnomAD
rs1302729316	p.Gly16Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647488C>A	TOPMed,gnomAD
rs898700816	p.Gly16Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647489C>T	gnomAD
rs1302729316	p.Gly16Asp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647488C>T	TOPMed,gnomAD
rs781416274	p.Arg18Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647481C>G	ExAC,gnomAD
rs1413404583	p.Val19Gly	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647479A>C	gnomAD
rs1400620052	p.Val19Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647480C>G	gnomAD
rs747436207	p.Gly22Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647471C>T	ExAC,TOPMed,gnomAD
rs1488607151	p.Pro24Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647465G>A	gnomAD
rs1327582900	p.Ile25Met	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647460A>C	gnomAD
rs778078174	p.Ile25Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647462T>C	ExAC,TOPMed,gnomAD
rs1213455330	p.Trp26Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647458C>A	gnomAD
rs370016891	p.Gly32Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602800C>T	ESP,ExAC,TOPMed,gnomAD
rs1300279028	p.Gln34Ter	stop gained	-	CHR_HSCHR17_2_CTG5:g.46602794G>A	gnomAD
rs939897615	p.Tyr35His	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602791A>G	TOPMed
rs771221427	p.Thr36Ile	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602787G>A	ExAC,gnomAD
rs939134415	p.Ser37Tyr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602784G>T	TOPMed,gnomAD
rs747207186	p.Gly39Asp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602778C>T	ExAC,TOPMed,gnomAD
rs1466142390	p.Ser40Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602775G>A	gnomAD
rs1224474746	p.Leu43Pro	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602766A>G	TOPMed
rs376610330	p.Gly46Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602758C>T	ESP,ExAC,TOPMed,gnomAD
rs755426927	p.Pro53Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602736G>A	ExAC,gnomAD
rs1285314376	p.Lys54Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602733T>C	gnomAD
rs745450126	p.Lys54Gln	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602734T>G	ExAC,gnomAD
rs757020950	p.Arg57Pro	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602724C>G	ExAC,gnomAD
rs1277199971	p.Phe58Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602722A>G	gnomAD
rs766987789	p.Arg60Cys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602716G>A	ExAC,gnomAD
rs758209963	p.Arg60His	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602715C>T	ExAC,TOPMed,gnomAD
rs1314013087	p.Ile63Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602707T>C	gnomAD
rs765281954	p.Glu71Lys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602683C>T	ExAC,TOPMed,gnomAD
rs759357140	p.Ile77Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602665T>C	ExAC,gnomAD
rs1248506791	p.Cys80Gly	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602656A>C	gnomAD
rs776819489	p.Arg85Trp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602641G>A	ExAC,TOPMed,gnomAD
rs1483494147	p.Arg85Gln	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602640C>T	TOPMed,gnomAD
rs766394226	p.Gly86Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602637C>A	ExAC,gnomAD
rs766394226	p.Gly86Ala	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602637C>G	ExAC,gnomAD
rs773358698	p.Arg87Cys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602635G>A	ExAC,gnomAD
rs772443949	p.Arg87His	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602634C>T	ExAC,TOPMed,gnomAD
rs1315719628	p.Ile94Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602613A>G	TOPMed,gnomAD
rs1452765136	p.Asp96His	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602608C>G	gnomAD
rs774576666	p.Leu98Gln	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602601A>T	ExAC,TOPMed,gnomAD
rs780778750	p.Val104Ile	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602584C>T	ExAC,TOPMed,gnomAD
rs746671229	p.Asp106Asn	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602578C>T	ExAC,TOPMed,gnomAD
rs746671229	p.Asp106Tyr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602578C>A	ExAC,TOPMed,gnomAD
rs1362697335	p.Glu111Lys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598949C>T	gnomAD
rs1435705558	p.Ala113Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598943C>A	gnomAD
rs1428067168	p.Ile118Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598928T>C	gnomAD
rs756045478	p.Gly122Ala	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598915C>G	ExAC,gnomAD
rs1441287140	p.Phe125Tyr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598906A>T	TOPMed,gnomAD
rs751693839	p.Ala126Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598904C>T	ExAC,gnomAD
rs1339718933	p.Ala126Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598903G>A	gnomAD
rs1228917258	p.Thr128Ile	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598897G>A	gnomAD
rs954922524	p.Ser130Phe	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598891G>A	TOPMed,gnomAD
rs1341068511	p.Cys131Tyr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598888C>T	gnomAD
rs765884429	p.Ala132Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598886C>T	ExAC,gnomAD
rs765884429	p.Ala132Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598886C>A	ExAC,gnomAD
rs760094608	p.Gly134Asp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598879C>T	ExAC,gnomAD
rs771441245	p.Thr135Ala	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598877T>C	ExAC,gnomAD
rs1163127102	p.Thr137Pro	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598871T>G	gnomAD
rs1473415899	p.Ile138Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598867A>G	TOPMed,gnomAD
rs1237548572	p.Gly140Ala	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598861C>G	gnomAD
rs1232484872	p.Gly140Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598862C>T	TOPMed
rs1189503846	p.Asp142Glu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598854G>C	gnomAD
rs374646467	p.Ser143Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598852G>A	ESP,ExAC,TOPMed,gnomAD
rs768344495	p.His144Pro	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598849T>G	ExAC,gnomAD
rs1343963521	p.His145Tyr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598847G>A	gnomAD
rs779793771	p.Lys146Asn	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598842C>A	ExAC
rs749108256	p.Lys146Glu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598844T>C	ExAC,TOPMed,gnomAD
rs781282951	p.Glu151Asp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598827T>A	ExAC,gnomAD
rs1286011024	p.Glu151Lys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598829C>T	gnomAD
rs1452528986	p.Trp153Cys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598821C>A	TOPMed
rs1349987904	p.Cys158Gly	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598808A>C	gnomAD
rs1395471029	p.Cys158Tyr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598807C>T	TOPMed
rs757224064	p.Glu160Lys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598802C>T	ExAC,gnomAD
rs1408996739	p.Asp161Tyr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598799C>A	TOPMed
rs985420838	p.Asp163Tyr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598793C>A	gnomAD
rs985420838	p.Asp163Asn	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598793C>T	gnomAD
rs751644315	p.Asp163Glu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598791G>C	ExAC,TOPMed,gnomAD
rs143350900	p.Val168Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598778C>A	ESP,ExAC,TOPMed,gnomAD
rs139902701	p.Ala173Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598762G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1244749716	p.Asn178Tyr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598748T>A	gnomAD
rs773911958	p.Asn178Lys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598746G>C	ExAC,TOPMed,gnomAD
rs773911958	p.Asn178Lys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598746G>T	ExAC,TOPMed,gnomAD
rs1346223556	p.Pro180Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598741G>A	TOPMed
rs1271201049	p.Asp181His	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598739C>G	TOPMed
rs146457750	p.Arg183His	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598732C>T	ESP,ExAC,TOPMed,gnomAD
rs1289072372	p.Met186Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598723A>G	gnomAD
rs949357754	p.Glu192Lys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598706C>T	TOPMed
rs747097936	p.Gly194Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598700C>G	ExAC,gnomAD
rs772208937	p.Ile198Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597706T>G	ExAC,gnomAD
rs772208937	p.Ile198Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597706T>C	ExAC,gnomAD
rs1166453534	p.Leu204Phe	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597688G>A	gnomAD
rs1255537902	p.Gly213Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597661C>T	gnomAD
rs1244561458	p.Val217Ala	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597648A>G	gnomAD
rs1486757249	p.Thr219Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597643T>A	gnomAD
rs754298042	p.Ala223Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597630G>A	ExAC,TOPMed,gnomAD
rs780448017	p.Arg228His	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597615C>T	ExAC,TOPMed,gnomAD
rs1253456656	p.Arg228Cys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597616G>A	gnomAD
rs1297668559	p.Ala229Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597613C>T	gnomAD
rs375210034	p.Ile230Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597610T>C	ESP,ExAC,TOPMed,gnomAD
rs1233413311	p.Gly231Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597607C>T	gnomAD
rs763517587	p.Asp232Gly	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597603T>C	ExAC,TOPMed,gnomAD
rs1408840375	p.Lys235Asn	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597593C>G	gnomAD
rs752197956	p.Ser240Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597579C>G	ExAC,gnomAD
rs764908004	p.Ser240Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597578G>T	ExAC,gnomAD
rs759165713	p.Ala241Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597577C>T	ExAC,gnomAD
rs770718548	p.Ser242Trp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597573G>C	ExAC,gnomAD
rs760532705	p.Arg250Leu	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597549C>A	ExAC,gnomAD
rs1444493326	p.Arg253Gln	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597540C>T	TOPMed
rs1335027382	p.Arg253Ter	stop gained	-	CHR_HSCHR17_2_CTG5:g.46597541G>A	TOPMed
rs773142859	p.Val256Met	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597532C>T	ExAC,gnomAD
rs1488424377	p.Arg260Gln	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597519C>T	gnomAD
rs1208483398	p.Arg260Gly	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597520G>C	gnomAD
rs1266510350	p.Ser264Trp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597507G>C	gnomAD
rs886053073	p.Lys267Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597498T>C	gnomAD
rs1253932905	p.Thr270Met	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597489G>A	TOPMed
rs1227379658	p.Arg272Lys	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597483C>T	gnomAD
rs1384823983	p.Tyr276Asn	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597472A>T	gnomAD
rs1389773314	p.Pro281Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597457G>A	gnomAD
rs749481789	p.Glu289Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597432T>A	ExAC,gnomAD
rs780318283	p.Gly291Asp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597426C>T	ExAC,gnomAD
rs1240376838	p.Thr299Ile	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597402G>A	TOPMed
rs1043363244	p.Asn301Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597396T>C	TOPMed,gnomAD
rs1376092571	p.Ser304Phe	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597387G>A	TOPMed
rs200319318	p.His305Gln	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597383G>C	ExAC,TOPMed,gnomAD
rs536348987	p.His305Pro	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597384T>G	1000Genomes,ExAC,gnomAD
rs757727243	p.Gly306Ser	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597382C>T	ExAC,TOPMed,gnomAD
rs1463977312	p.Ile307Thr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597378A>G	gnomAD
rs754656610	p.Asp308His	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597376C>G	ExAC,TOPMed,gnomAD
rs754656610	p.Asp308Asn	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597376C>T	ExAC,TOPMed,gnomAD
rs760574450	p.His319Pro	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597342T>G	ExAC,gnomAD
rs766100258	p.His319Tyr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597343G>A	ExAC,gnomAD
rs760574450	p.His319Arg	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597342T>C	ExAC,gnomAD
rs1303969028	p.Thr321Met	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597336G>A	TOPMed,gnomAD
rs1363009249	p.Arg322Gly	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597334T>C	gnomAD
rs1319940652	p.Thr323Met	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597330G>A	gnomAD
rs761820418	p.Lys325Asn	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597323C>A	ExAC,gnomAD
rs774595709	p.Arg326Gly	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597322G>C	ExAC,TOPMed,gnomAD
rs774595709	p.Arg326Trp	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597322G>A	ExAC,TOPMed,gnomAD
rs768821285	p.Arg326Gln	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597321C>T	ExAC,gnomAD
rs141597258	p.His331Tyr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597307G>A	ESP,ExAC
rs370821059	p.Ile333Val	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597301T>C	ESP,gnomAD
rs1247905509	p.Cys338Tyr	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597285C>T	gnomAD
rs1233589568	p.Tyr339Asn	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597283A>T	TOPMed
rs1447018286	p.Val340Ile	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597280C>T	gnomAD
rs1197275644	p.Cys342Phe	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597273C>A	TOPMed
rs747471187	p.Glu344Gly	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597267T>C	ExAC,gnomAD
rs1208822915	p.Ile346Met	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597260A>C	gnomAD
rs778399124	p.Arg347His	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597258C>T	ExAC,gnomAD
rs147306984	p.Asp350Asn	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597250C>T	ESP,ExAC,TOPMed,gnomAD
rs1265723023	p.Val351Met	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597247C>T	TOPMed
rs766125270	p.His352Asn	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597244G>T	ExAC,TOPMed,gnomAD
rs755692563	p.Thr353Asn	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597240G>T	ExAC,gnomAD
rs1376336260	p.Ter356Gln	stop lost	-	CHR_HSCHR17_2_CTG5:g.46597232A>G	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0001430	Adenoma	group	BEFREE
C0002871	Anemia	disease	BEFREE
C0003466	Anus, Imperforate	disease	HPO
C0005689	Bladder Exstrophy	disease	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007113	Rectal Carcinoma	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0008297	Choanal Atresia	disease	HPO
C0008924	Cleft upper lip	disease	HPO
C0009240	Cognition	phenotype	GWASCAT
C0009402	Colorectal Carcinoma	disease	BEFREE
C0010417	Cryptorchidism	disease	HPO
C0020224	Polyhydramnios	phenotype	HPO
C0020255	Hydrocephalus	disease	GENOMICS_ENGLAND;HPO
C0021704	Intelligence	phenotype	GWASCAT
C0023434	Chronic Lymphocytic Leukemia	disease	BEFREE
C0023892	Biliary cirrhosis	disease	GWASDB
C0024115	Lung diseases	group	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025202	melanoma	disease	BEFREE;LHGDN
C0025990	Micrognathism	disease	HPO
C0026010	Microphthalmos	disease	HPO
C0026034	Microstomia	disease	HPO
C0026769	Multiple Sclerosis	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027819	Neuroblastoma	group	BEFREE
C0029124	Optic Atrophy	disease	HPO
C0030567	Parkinson Disease	disease	BEFREE;GWASCAT;GWASDB
C0036421	Systemic Scleroderma	disease	BEFREE
C0037116	Silicosis	disease	BEFREE
C0040583	Tracheal Stenosis	disease	HPO
C0041296	Tuberculosis	disease	BEFREE
C0041327	Tuberculosis, Pulmonary	disease	BEFREE
C0086543	Cataract	disease	HPO
C0152423	Congenital small ears	disease	HPO
C0158646	Cleft palate with cleft lip	disease	BEFREE;HPO
C0175754	Agenesis of corpus callosum	disease	HPO
C0178874	Tumor Progression	phenotype	BEFREE
C0206062	Lung Diseases, Interstitial	group	GWASDB
C0239234	Low set ears	phenotype	HPO
C0240063	Coloboma of iris	phenotype	HPO
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0265706	Gastroschisis	disease	HPO
C0265783	Congenital hypoplasia of lung	disease	HPO
C0266273	Congenital absence of adrenal gland	disease	HPO
C0266544	Microcornea	disease	HPO
C0334634	Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	disease	BEFREE;CTD_human;LHGDN
C0338503	Septo-Optic Dysplasia	disease	HPO
C0345967	Malignant mesothelioma	disease	CTD_human
C0369183	Erythrocyte Mean Corpuscular Hemoglobin Test	phenotype	GWASDB
C0426816	Absence of rib	disease	HPO
C0542519	Congenital absence of kidney	disease	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0600031	Congenital absence of spleen	disease	HPO
C0678222	Breast Carcinoma	disease	BEFREE;GWASCAT
C0684249	Carcinoma of lung	disease	BEFREE
C0685682	Single naris	disease	HPO
C0685684	Congenital hypoplasia of nose	disease	HPO
C0685695	Abnormal lung lobation	disease	HPO
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0751958	Lymphoma, Lymphocytic, Intermediate	disease	CTD_human
C1167713	Decreased corneal diameter	phenotype	HPO
C1261502	Finding of Mean Corpuscular Hemoglobin	phenotype	GWASDB
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1321884	Atresia of vagina	disease	HPO
C1384670	Single umbilical artery	disease	HPO
C1458155	Mammary Neoplasms	group	BEFREE
C1510497	Lens Opacities	phenotype	HPO
C1512409	Hepatocarcinogenesis	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1610065	Urethral atresia	disease	HPO
C1838703	Bladder Exstrophy and Epispadias Complex	disease	CLINVAR
C1848869	Absent external genitalia	disease	HPO
C1848873	Abnormality of the diaphragm	phenotype	HPO
C1848877	Peripheral pulmonary vessel aplasia	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1968706	Hypoplasia of the fallopian tube	phenotype	HPO
C2239176	Liver carcinoma	disease	BEFREE
C2931216	Tetra-amelia autosomal recessive	disease	BEFREE;CTD_human;HPO
C2931218	Tetraamelia multiple malformations	disease	ORPHANET
C2981150	Uranostaphyloschisis	disease	HPO
C3150086	Aplasia/Hypoplasia of the nipples	phenotype	HPO
C3536734	Hypoplastic pelvis	phenotype	HPO
C3714581	Multicystic Dysplastic Kidney	disease	HPO
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C4012268	TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE	disease	CLINVAR
C4020966	Abnormal vertebral ossification	phenotype	HPO
C4021777	Abnormality of the larynx	phenotype	HPO
C4021813	Oral cleft	disease	HPO
C4024159	Aplasia/Hypoplasia involving the nose	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4024597	Aplasia/Hypoplasia involving the pelvis	phenotype	HPO
C4024996	Aplasia/Hypoplasia of the lungs	phenotype	HPO
C4280392	Hypotrophic nose	phenotype	HPO
C4280625	Decreased size of eyeball	phenotype	HPO
C4280808	Abnormally small eyeball	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:0005109	frizzled binding	IPI
GO:0005109	frizzled binding	IBA
GO:0005515	protein binding	IPI
GO:0019904	protein domain specific binding	IEA
GO:0048018	receptor ligand activity	IDA
GO:0048018	receptor ligand activity	IC

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000902	cell morphogenesis	IMP
GO:0001707	mesoderm formation	IEA
GO:0007276	gamete generation	IEA
GO:0007411	axon guidance	IEA
GO:0009948	anterior/posterior axis specification	IEA
GO:0009950	dorsal/ventral axis specification	IEA
GO:0010628	positive regulation of gene expression	IDA
GO:0016055	Wnt signaling pathway	IBA
GO:0016055	Wnt signaling pathway	TAS
GO:0030177	positive regulation of Wnt signaling pathway	IEA
GO:0030182	neuron differentiation	ISS
GO:0030182	neuron differentiation	IBA
GO:0035115	embryonic forelimb morphogenesis	IEA
GO:0035116	embryonic hindlimb morphogenesis	IEA
GO:0044338	canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation	IMP
GO:0044339	canonical Wnt signaling pathway involved in osteoblast differentiation	IMP
GO:0045165	cell fate commitment	IBA
GO:0048697	positive regulation of collateral sprouting in absence of injury	IEA
GO:0048843	negative regulation of axon extension involved in axon guidance	IEA
GO:0050767	regulation of neurogenesis	IMP
GO:0060064	Spemann organizer formation at the anterior end of the primitive streak	IEA
GO:0060070	canonical Wnt signaling pathway	IDA
GO:0060070	canonical Wnt signaling pathway	TAS
GO:0060174	limb bud formation	IMP
GO:0060323	head morphogenesis	IEA
GO:0061180	mammary gland epithelium development	IEP
GO:0071300	cellular response to retinoic acid	ISS
GO:0072089	stem cell proliferation	IMP
GO:1904954	canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation	IMP
GO:1905474	canonical Wnt signaling pathway involved in stem cell proliferation	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	TAS
GO:0005615	extracellular space	TAS
GO:0005615	extracellular space	IBA
GO:0005788	endoplasmic reticulum lumen	TAS
GO:0005796	Golgi lumen	TAS
GO:0005886	plasma membrane	TAS
GO:0030666	endocytic vesicle membrane	TAS
GO:0031012	extracellular matrix	IEA
GO:0070062	extracellular exosome	TAS
GO:1990909	Wnt signalosome	IC
GO:1990909	Wnt signalosome	NAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-162582	Signal Transduction	IEA
R-HSA-195721	Signaling by WNT	TAS
R-HSA-195721	Signaling by WNT	IEA
R-HSA-201681	TCF dependent signaling in response to WNT	TAS
R-HSA-3238698	WNT ligand biogenesis and trafficking	TAS
R-HSA-3238698	WNT ligand biogenesis and trafficking	IEA
R-HSA-372790	Signaling by GPCR	IEA
R-HSA-373080	Class B/2 (Secretin family receptors)	IEA
R-HSA-500792	GPCR ligand binding	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of WNT3 mRNA	28628672
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in decreased expression of WNT3 mRNA	25614096
C472791	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in increased expression of WNT3 mRNA	16788091
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with 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 WNT3 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 Phenylmercuric Acetate 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 WNT3 mRNA	27188386
C483321	6-bromoindirubin-3'-oxime	[Valproic Acid co-treated with 6-bromoindirubin-3'-oxime] results in decreased expression of WNT3 mRNA	27693483
D000082	Acetaminophen	Acetaminophen results in decreased expression of WNT3 mRNA	21420995
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of WNT3 gene	28458013
C029753	aflatoxin B2	aflatoxin B2 results in decreased methylation of WNT3 intron	30157460
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of WNT3 mRNA	24449571
D001280	Atrazine	Atrazine results in increased expression of WNT3 mRNA	18585445
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of WNT3 intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of WNT3 mRNA	27195522
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in decreased expression of WNT3 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of WNT3 mRNA	26063408; 30951980;
C006780	bisphenol A	bisphenol A results in decreased methylation of WNT3 promoter	27312807
C006780	bisphenol A	bisphenol A results in increased methylation of WNT3 promoter	27312807
C006780	bisphenol A	bisphenol A results in decreased expression of WNT3 mRNA	25181051; 25381574; 25963729;
C006780	bisphenol A	bisphenol A results in decreased expression of WNT3 protein	25381574; 25963729;
C006780	bisphenol A	bisphenol A results in increased methylation of WNT3 gene	28505145
C006780	bisphenol A	Curcumin inhibits the reaction [bisphenol A results in decreased expression of WNT3 mRNA]	25963729
C006780	bisphenol A	Curcumin inhibits the reaction [bisphenol A results in decreased expression of WNT3 protein]	25963729
C000611646	bisphenol F	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of WNT3 mRNA	28628672
C000611646	bisphenol F	bisphenol F results in decreased expression of WNT3 mRNA	30951980
D002945	Cisplatin	Cisplatin results in decreased expression of WNT3 mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of WNT3 mRNA	23956100
D019327	Copper Sulfate	Copper Sulfate results in increased expression of WNT3 mRNA	19549813
D003474	Curcumin	Curcumin inhibits the reaction [bisphenol A results in decreased expression of WNT3 mRNA]	25963729
D003474	Curcumin	Curcumin inhibits the reaction [bisphenol A results in decreased expression of WNT3 protein]	25963729
D003474	Curcumin	Curcumin results in increased expression of WNT3 mRNA	25963729
D003474	Curcumin	Curcumin results in increased expression of WNT3 protein	25963729
D000077209	Decitabine	Decitabine results in increased expression of WNT3 mRNA	27915011
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of WNT3 mRNA	28628672
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 WNT3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate 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 WNT3 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of WNT3 mRNA	23956100
D004958	Estradiol	EGF protein inhibits the reaction [Estradiol results in decreased expression of WNT3 mRNA]	24758408
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of WNT3 mRNA	30165855
D004958	Estradiol	Estradiol results in decreased expression of WNT3 mRNA	24758408
D005013	Ethosuximide	Ethosuximide inhibits the reaction [APP protein modified form results in decreased expression of WNT3 mRNA]	26420483
D005013	Ethosuximide	Ethosuximide results in increased expression of WNT3 mRNA	26420483
D005472	Fluorouracil	Fluorouracil results in increased expression of WNT3 mRNA	26272751
D005492	Folic Acid	[Folic Acid co-treated with sodium arsenite] results in decreased methylation of WNT3 mRNA	22959928
C069837	fullerene C60	fullerene C60 results in decreased expression of WNT3 mRNA	19167457
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of WNT3 mRNA	28628672
D018021	Lithium Chloride	Lithium Chloride results in decreased expression of WNT3 mRNA	26272751
D018021	Lithium Chloride	Lithium Chloride results in increased expression of WNT3 mRNA	17506889
C028577	monobutyl phthalate	monobutyl phthalate affects the expression of WNT3 mRNA	19162170
D009532	Nickel	Nickel results in decreased expression of WNT3 mRNA	24768652
D009534	Niclosamide	Niclosamide results in decreased expression of WNT3 mRNA	22576131
C007350	nitrofen	nitrofen results in increased expression of WNT3 mRNA	26720608
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of WNT3 mRNA	20188158
D017239	Paclitaxel	Paclitaxel results in decreased expression of WNT3 mRNA	23956100
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 WNT3 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of WNT3 mRNA	26272509
D052638	Particulate Matter	Particulate Matter results in decreased expression of WNT3 mRNA	28341207
D010400	Penicillin G	Penicillin G results in increased expression of WNT3 mRNA	26272751
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate 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 WNT3 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of WNT3 mRNA	26272509
D010672	Phenytoin	Phenytoin results in decreased expression of WNT3 mRNA	26272751
C043680	ptaquiloside	[ptaquiloside co-treated with Sodium Selenite] results in decreased expression of WNT3 mRNA	23274088
D012439	Saccharin	Saccharin results in increased expression of WNT3 mRNA	26272751
C017947	sodium arsenite	sodium arsenite results in decreased expression of WNT3 mRNA	19615344
C017947	sodium arsenite	[Folic Acid co-treated with sodium arsenite] results in decreased methylation of WNT3 mRNA	22959928
D018038	Sodium Selenite	[ptaquiloside co-treated with Sodium Selenite] results in decreased expression of WNT3 mRNA	23274088
D018038	Sodium Selenite	Sodium Selenite results in decreased expression of WNT3 mRNA	23274088
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in decreased expression of WNT3 protein	27239688
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to WNT3 promoter]	19654925
D013849	Thimerosal	Thimerosal results in decreased expression of WNT3 mRNA	27188386
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of WNT3 mRNA	28065790
D014118	Toxins, Biological	Toxins, Biological affects the expression of WNT3 mRNA	19682533
D014212	Tretinoin	Tretinoin results in increased expression of WNT3 mRNA	15576409
D014212	Tretinoin	Tretinoin results in increased expression of WNT3 mRNA	21934132
C012589	trichostatin A	trichostatin A results in increased expression of WNT3 mRNA	24935251
C015559	trimellitic anhydride	trimellitic anhydride results in decreased expression of WNT3 mRNA	19042947
D014635	Valproic Acid	Valproic Acid affects the expression of WNT3 mRNA	25979313
D014635	Valproic Acid	[Valproic Acid co-treated with 6-bromoindirubin-3'-oxime] results in decreased expression of WNT3 mRNA	27693483
D014635	Valproic Acid	Valproic Acid results in decreased expression of WNT3 mRNA	26272751; 27693483;
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of WNT3 gene	25560391
D000077337	Vorinostat	Vorinostat results in decreased expression of WNT3 mRNA	27188386
D019287	Zinc Sulfate	Zinc Sulfate results in decreased expression of WNT3 mRNA	17506889

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0217	Developmental protein
KW-1015	Disulfide bond
KW-0272	Extracellular matrix
KW-0325	Glycoprotein
KW-0449	Lipoprotein
KW-0656	Proto-oncogene
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal
KW-0879	Wnt signaling pathway

Interpro

InterPro ID	InterPro Term
IPR005817	Wnt
IPR009141	Wnt3
IPR043158	Wnt_C
IPR018161	Wnt_CS

PROSITE

PROSITE ID	PROSITE Term
PS00246	WNT1

Pfam

Pfam ID	Pfam Term
PF00110	wnt

Gene: WNT3

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

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