CleftGeneDB-Search

Gene: FZD1

Basic information

Tag	Content
Uniprot ID	Q9UP38; A4D1E8; O94815; Q549T8;
Entrez ID	8321
Genbank protein ID	AAH51271.1; AAS02008.1; AAD41636.1; BAA34666.1; EAW76871.1; EAL24161.1;
Genbank nucleotide ID	NM_003505.1
Ensembl protein ID	ENSP00000287934
Ensembl nucleotide ID	ENSG00000157240
Gene name	Frizzled-1
Gene symbol	FZD1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Receptor for Wnt proteins (PubMed:10557084). Activated by WNT3A, WNT3, WNT1 and to a lesser extent WNT2, but apparently not by WNT4, WNT5A, WNT5B, WNT6, WNT7A or WNT7B (PubMed:10557084). Contradictory results showing activation by WNT7B have been described for mouse (By similarity). Functions in the canonical Wnt/beta-catenin signaling pathway (PubMed:10557084). The canonical Wnt/beta-catenin signaling pathway leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes (PubMed:10557084). A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues (Probable).
Sequence	MAEEEAPKKS RAAGGGASWE LCAGALSARL AEEGSGDAGG RRRPPVDPRR LARQLLLLLW 60 LLEAPLLLGV RAQAAGQGPG QGPGPGQQPP PPPQQQQSGQ QYNGERGISV PDHGYCQPIS 120 IPLCTDIAYN QTIMPNLLGH TNQEDAGLEV HQFYPLVKVQ CSAELKFFLC SMYAPVCTVL 180 EQALPPCRSL CERARQGCEA LMNKFGFQWP DTLKCEKFPV HGAGELCVGQ NTSDKGTPTP 240 SLLPEFWTSN PQHGGGGHRG GFPGGAGASE RGKFSCPRAL KVPSYLNYHF LGEKDCGAPC 300 EPTKVYGLMY FGPEELRFSR TWIGIWSVLC CASTLFTVLT YLVDMRRFSY PERPIIFLSG 360 CYTAVAVAYI AGFLLEDRVV CNDKFAEDGA RTVAQGTKKE GCTILFMMLY FFSMASSIWW 420 VILSLTWFLA AGMKWGHEAI EANSQYFHLA AWAVPAIKTI TILALGQVDG DVLSGVCFVG 480 LNNVDALRGF VLAPLFVYLF IGTSFLLAGF VSLFRIRTIM KHDGTKTEKL EKLMVRIGVF 540 SVLYTVPATI VIACYFYEQA FRDQWERSWV AQSCKSYAIP CPHLQAGGGA PPHPPMSPDF 600 TVFMIKYLMT LIVGITSGFW IWSGKTLNSW RKFYTRLTNS KQGETTV 647

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	FZD1	445417	A7MB15		Bos taurus	Prediction	More>>
1:1 ortholog	FZD1	482294	F1PCN5		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	FZD1		A0A452EC64		Capra hircus	Prediction	More>>
1:1 ortholog	FZD1	8321	Q9UP38		Homo sapiens	Prediction	More>>
1:1 ortholog	Fzd1	14362	O70421	CPO	Mus musculus	Publication	More>>
1:1 ortholog	Fzd1	58868	G3V833		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1467211914	p.Ala2Val	missense variant	-	NC_000007.14:g.91264885C>T	gnomAD
rs1303955165	p.Ala2Ser	missense variant	-	NC_000007.14:g.91264884G>T	TOPMed
rs1303955165	p.Ala2Thr	missense variant	-	NC_000007.14:g.91264884G>A	TOPMed
rs909653277	p.Ala6Glu	missense variant	-	NC_000007.14:g.91264897C>A	TOPMed,gnomAD
rs909653277	p.Ala6Val	missense variant	-	NC_000007.14:g.91264897C>T	TOPMed,gnomAD
rs938351976	p.Lys8Glu	missense variant	-	NC_000007.14:g.91264902A>G	gnomAD
rs938351976	p.Lys8Ter	stop gained	-	NC_000007.14:g.91264902A>T	gnomAD
rs750107627	p.Ser10Thr	missense variant	-	NC_000007.14:g.91264908T>A	ExAC,TOPMed,gnomAD
rs762530466	p.Arg11Gln	missense variant	-	NC_000007.14:g.91264912G>A	ExAC,TOPMed,gnomAD
rs762530466	p.Arg11Pro	missense variant	-	NC_000007.14:g.91264912G>C	ExAC,TOPMed,gnomAD
rs1014467401	p.Ala12Gly	missense variant	-	NC_000007.14:g.91264915C>G	TOPMed,gnomAD
rs1014467401	p.Ala12Val	missense variant	-	NC_000007.14:g.91264915C>T	TOPMed,gnomAD
rs1441813156	p.Ala13Thr	missense variant	-	NC_000007.14:g.91264917G>A	gnomAD
rs765901117	p.Gly14Ser	missense variant	-	NC_000007.14:g.91264920G>A	ExAC,TOPMed,gnomAD
rs1446610778	p.Gly15Ser	missense variant	-	NC_000007.14:g.91264923G>A	gnomAD
rs755525834	p.Gly16Asp	missense variant	-	NC_000007.14:g.91264927G>A	ExAC,gnomAD
rs1194238539	p.Gly16Ser	missense variant	-	NC_000007.14:g.91264926G>A	TOPMed
rs1420406058	p.Ala17Thr	missense variant	-	NC_000007.14:g.91264929G>A	TOPMed,gnomAD
rs1204031730	p.Ala17Gly	missense variant	-	NC_000007.14:g.91264930C>G	TOPMed
rs1222098993	p.Ser18Arg	missense variant	-	NC_000007.14:g.91264934C>G	TOPMed
rs1257363545	p.Ser18Gly	missense variant	-	NC_000007.14:g.91264932A>G	TOPMed
rs887932162	p.Leu21Ile	missense variant	-	NC_000007.14:g.91264941C>A	TOPMed,gnomAD
rs753069708	p.Cys22Tyr	missense variant	-	NC_000007.14:g.91264945G>A	ExAC,gnomAD
rs1342646410	p.Ala23Val	missense variant	-	NC_000007.14:g.91264948C>T	gnomAD
rs1444030438	p.Gly24Arg	missense variant	-	NC_000007.14:g.91264950G>A	gnomAD
rs1002096196	p.Gly24Glu	missense variant	-	NC_000007.14:g.91264951G>A	TOPMed,gnomAD
rs1027439486	p.Ala25Gly	missense variant	-	NC_000007.14:g.91264954C>G	TOPMed,gnomAD
rs1027439486	p.Ala25Val	missense variant	-	NC_000007.14:g.91264954C>T	TOPMed,gnomAD
rs1396651918	p.Leu26Arg	missense variant	-	NC_000007.14:g.91264957T>G	TOPMed
rs1395872839	p.Ala28Thr	missense variant	-	NC_000007.14:g.91264962G>A	gnomAD
rs1428274719	p.Arg29Pro	missense variant	-	NC_000007.14:g.91264966G>C	TOPMed
rs1171306492	p.Ala31Val	missense variant	-	NC_000007.14:g.91264972C>T	TOPMed
rs1257931729	p.Ala31Thr	missense variant	-	NC_000007.14:g.91264971G>A	gnomAD
rs757506473	p.Glu33Lys	missense variant	-	NC_000007.14:g.91264977G>A	ExAC
rs779185373	p.Glu33Gly	missense variant	-	NC_000007.14:g.91264978A>G	ExAC,TOPMed,gnomAD
rs745913961	p.Gly34Ser	missense variant	-	NC_000007.14:g.91264980G>A	ExAC,gnomAD
rs1376049227	p.Gly36Arg	missense variant	-	NC_000007.14:g.91264986G>C	gnomAD
rs1376049227	p.Gly36Arg	missense variant	-	NC_000007.14:g.91264986G>A	gnomAD
rs1257860494	p.Ala38Thr	missense variant	-	NC_000007.14:g.91264992G>A	TOPMed
rs1461146482	p.Gly39Ser	missense variant	-	NC_000007.14:g.91264995G>A	TOPMed
rs1465925703	p.Gly39Asp	missense variant	-	NC_000007.14:g.91264996G>A	gnomAD
rs1464374630	p.Arg41His	missense variant	-	NC_000007.14:g.91265002G>A	gnomAD
rs1331148633	p.Arg42His	missense variant	-	NC_000007.14:g.91265005G>A	gnomAD
rs1200891699	p.Arg42Cys	missense variant	-	NC_000007.14:g.91265004C>T	TOPMed
rs997958051	p.Arg43His	missense variant	-	NC_000007.14:g.91265008G>A	TOPMed
rs965671131	p.Arg43Cys	missense variant	-	NC_000007.14:g.91265007C>T	TOPMed,gnomAD
rs776620932	p.Pro44Arg	missense variant	-	NC_000007.14:g.91265011C>G	ExAC,TOPMed
rs1342295604	p.Pro44Ser	missense variant	-	NC_000007.14:g.91265010C>T	TOPMed
rs1401300758	p.Asp47Glu	missense variant	-	NC_000007.14:g.91265021C>A	TOPMed
rs1452108003	p.Asp47Gly	missense variant	-	NC_000007.14:g.91265020A>G	TOPMed
rs554909047	p.Pro48Thr	missense variant	-	NC_000007.14:g.91265022C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs554909047	p.Pro48Ser	missense variant	-	NC_000007.14:g.91265022C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1332682566	p.Arg49Gln	missense variant	-	NC_000007.14:g.91265026G>A	TOPMed,gnomAD
rs1472847568	p.Ala52Pro	missense variant	-	NC_000007.14:g.91265034G>C	TOPMed
rs1257712065	p.Arg53His	missense variant	-	NC_000007.14:g.91265038G>A	gnomAD
rs1258542871	p.Leu56Met	missense variant	-	NC_000007.14:g.91265046C>A	gnomAD
rs1458371265	p.Leu57Val	missense variant	-	NC_000007.14:g.91265049C>G	gnomAD
rs1179180454	p.Leu58Pro	missense variant	-	NC_000007.14:g.91265053T>C	gnomAD
rs772947349	p.Leu59Ile	missense variant	-	NC_000007.14:g.91265055C>A	ExAC,TOPMed,gnomAD
rs772947349	p.Leu59Phe	missense variant	-	NC_000007.14:g.91265055C>T	ExAC,TOPMed,gnomAD
rs979669443	p.Leu61Val	missense variant	-	NC_000007.14:g.91265061C>G	TOPMed,gnomAD
rs979669443	p.Leu61Met	missense variant	-	NC_000007.14:g.91265061C>A	TOPMed,gnomAD
rs1199739561	p.Leu61Pro	missense variant	-	NC_000007.14:g.91265062T>C	gnomAD
rs142085794	p.Ala64Pro	missense variant	-	NC_000007.14:g.91265070G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs142085794	p.Ala64Thr	missense variant	-	NC_000007.14:g.91265070G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1358572204	p.Leu68Val	missense variant	-	NC_000007.14:g.91265082C>G	TOPMed
rs891811319	p.Gly69Ala	missense variant	-	NC_000007.14:g.91265086G>C	TOPMed
rs1438208600	p.Val70Phe	missense variant	-	NC_000007.14:g.91265088G>T	TOPMed,gnomAD
rs977241948	p.Arg71Pro	missense variant	-	NC_000007.14:g.91265092G>C	gnomAD
rs574691354	p.Arg71Trp	missense variant	-	NC_000007.14:g.91265091C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1311686668	p.Ala72Thr	missense variant	-	NC_000007.14:g.91265094G>A	TOPMed
rs557713242	p.Ala74Glu	missense variant	-	NC_000007.14:g.91265101C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1028239110	p.Ala75Val	missense variant	-	NC_000007.14:g.91265104C>T	TOPMed,gnomAD
rs1389326253	p.Gly78Ala	missense variant	-	NC_000007.14:g.91265113G>C	TOPMed,gnomAD
rs767964823	p.Gly80Arg	missense variant	-	NC_000007.14:g.91265118G>C	ExAC,TOPMed,gnomAD
rs1302817813	p.Gln81His	missense variant	-	NC_000007.14:g.91265123G>T	gnomAD
rs1004645902	p.Pro83Ser	missense variant	-	NC_000007.14:g.91265127C>T	TOPMed,gnomAD
rs1278536573	p.Gly84Arg	missense variant	-	NC_000007.14:g.91265130G>A	gnomAD
rs1014656110	p.Pro85Leu	missense variant	-	NC_000007.14:g.91265134C>T	TOPMed
rs756511034	p.Gly86Arg	missense variant	-	NC_000007.14:g.91265136G>A	ExAC
rs754232711	p.Pro89Leu	missense variant	-	NC_000007.14:g.91265146C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro93Leu	insertion	-	NC_000007.14:g.91265158_91265159insGCT	NCI-TCGA
rs563575931	p.Gln94Pro	missense variant	-	NC_000007.14:g.91265161A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs529145118	p.Gln94His	missense variant	-	NC_000007.14:g.91265162G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1193581660	p.Gln95Ter	stop gained	-	NC_000007.14:g.91265163C>T	gnomAD
rs779934443	p.Gln95Pro	missense variant	-	NC_000007.14:g.91265164A>C	ExAC,gnomAD
rs769565425	p.Gln96Arg	missense variant	-	NC_000007.14:g.91265167A>G	ExAC,gnomAD
rs1403826346	p.Gln97His	missense variant	-	NC_000007.14:g.91265171G>C	TOPMed
rs1367499438	p.Ser98Arg	missense variant	-	NC_000007.14:g.91265174C>G	gnomAD
rs773037088	p.Gly99Arg	missense variant	-	NC_000007.14:g.91265175G>A	ExAC,gnomAD
rs1360544877	p.Gly99Glu	missense variant	-	NC_000007.14:g.91265176G>A	TOPMed
rs749049302	p.Tyr102Cys	missense variant	-	NC_000007.14:g.91265185A>G	ExAC,gnomAD
rs770635483	p.Asn103His	missense variant	-	NC_000007.14:g.91265187A>C	ExAC,gnomAD
rs375051170	p.Asn103Ser	missense variant	-	NC_000007.14:g.91265188A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1311829566	p.Gly104Ser	missense variant	-	NC_000007.14:g.91265190G>A	gnomAD
rs959977879	p.Glu105Lys	missense variant	-	NC_000007.14:g.91265193G>A	TOPMed,gnomAD
rs1406776578	p.Glu105Asp	missense variant	-	NC_000007.14:g.91265195G>C	TOPMed
rs959977879	p.Glu105Gln	missense variant	-	NC_000007.14:g.91265193G>C	TOPMed,gnomAD
rs1487368309	p.Arg106Gln	missense variant	-	NC_000007.14:g.91265197G>A	gnomAD
rs759052167	p.Arg106Gly	missense variant	-	NC_000007.14:g.91265196C>G	ExAC,TOPMed,gnomAD
rs759052167	p.Arg106Trp	missense variant	-	NC_000007.14:g.91265196C>T	ExAC,TOPMed,gnomAD
rs767058121	p.Gly107Val	missense variant	-	NC_000007.14:g.91265200G>T	ExAC,TOPMed,gnomAD
rs767058121	p.Gly107Ala	missense variant	-	NC_000007.14:g.91265200G>C	ExAC,TOPMed,gnomAD
rs1487159468	p.Ile108Val	missense variant	-	NC_000007.14:g.91265202A>G	gnomAD
rs774814084	p.Ile108Asn	missense variant	-	NC_000007.14:g.91265203T>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser109Cys	missense variant	-	NC_000007.14:g.91265206C>G	NCI-TCGA
rs754322513	p.Val110Asp	missense variant	-	NC_000007.14:g.91265209T>A	ExAC,gnomAD
rs754322513	p.Val110Gly	missense variant	-	NC_000007.14:g.91265209T>G	ExAC,gnomAD
rs1446684619	p.His113Asp	missense variant	-	NC_000007.14:g.91265217C>G	TOPMed
rs751566731	p.Gly114Asp	missense variant	-	NC_000007.14:g.91265221G>A	ExAC,gnomAD
rs751566731	p.Gly114Asp	missense variant	-	NC_000007.14:g.91265221G>A	NCI-TCGA,NCI-TCGA Cosmic
rs988874488	p.Tyr115Phe	missense variant	-	NC_000007.14:g.91265224A>T	TOPMed
NCI-TCGA novel	p.Pro118Ser	missense variant	-	NC_000007.14:g.91265232C>T	NCI-TCGA
rs749138157	p.Ile119Asn	missense variant	-	NC_000007.14:g.91265236T>A	ExAC,gnomAD
rs777680747	p.Ile119Val	missense variant	-	NC_000007.14:g.91265235A>G	ExAC,gnomAD
rs1453604982	p.Pro122Gln	missense variant	-	NC_000007.14:g.91265245C>A	gnomAD
rs1453604982	p.Pro122Leu	missense variant	-	NC_000007.14:g.91265245C>T	gnomAD
NCI-TCGA novel	p.Asp126Val	missense variant	-	NC_000007.14:g.91265257A>T	NCI-TCGA
rs149357966	p.Ala128Val	missense variant	-	NC_000007.14:g.91265263C>T	ESP,ExAC,gnomAD
rs1319234441	p.Asn130Ser	missense variant	-	NC_000007.14:g.91265269A>G	gnomAD
rs1344281621	p.Asn130Lys	missense variant	-	NC_000007.14:g.91265270C>A	TOPMed
rs1208654788	p.Ile133Thr	missense variant	-	NC_000007.14:g.91265278T>C	gnomAD
rs1255701930	p.Ile133Met	missense variant	-	NC_000007.14:g.91265279C>G	gnomAD
rs775107631	p.Leu137Val	missense variant	-	NC_000007.14:g.91265289C>G	ExAC,gnomAD
rs769346857	p.Gly139Val	missense variant	-	NC_000007.14:g.91265296G>T	ExAC,gnomAD
rs1427554766	p.His140Gln	missense variant	-	NC_000007.14:g.91265300C>A	TOPMed
rs1176154961	p.Thr141Met	missense variant	-	NC_000007.14:g.91265302C>T	TOPMed
rs777293881	p.Asn142His	missense variant	-	NC_000007.14:g.91265304A>C	ExAC,TOPMed,gnomAD
COSM1452732	p.Gly147Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91265320G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu149Gln	missense variant	-	NC_000007.14:g.91265325G>C	NCI-TCGA
rs1470820699	p.His151Pro	missense variant	-	NC_000007.14:g.91265332A>C	gnomAD
rs1238287774	p.Phe153Val	missense variant	-	NC_000007.14:g.91265337T>G	TOPMed
rs766475224	p.Pro155Leu	missense variant	-	NC_000007.14:g.91265344C>T	ExAC
COSM3412464	p.Lys158Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91265354A>T	NCI-TCGA Cosmic
rs755035659	p.Val159Met	missense variant	-	NC_000007.14:g.91265355G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val159Gly	missense variant	-	NC_000007.14:g.91265356T>G	NCI-TCGA
rs1212441651	p.Ser162Phe	missense variant	-	NC_000007.14:g.91265365C>T	TOPMed
rs745620349	p.Lys166Arg	missense variant	-	NC_000007.14:g.91265377A>G	ExAC,TOPMed,gnomAD
rs745620349	p.Lys166Arg	missense variant	-	NC_000007.14:g.91265377A>G	NCI-TCGA,NCI-TCGA Cosmic
rs771826054	p.Phe167Leu	missense variant	-	NC_000007.14:g.91265381C>A	ExAC,TOPMed,gnomAD
rs1324941364	p.Leu169Pro	missense variant	-	NC_000007.14:g.91265386T>C	gnomAD
COSM1452733	p.Ser171Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91265392C>T	NCI-TCGA Cosmic
rs746616682	p.Ala174Glu	missense variant	-	NC_000007.14:g.91265401C>A	ExAC,gnomAD
rs1456999721	p.Pro175Leu	missense variant	-	NC_000007.14:g.91265404C>T	gnomAD
rs937596409	p.Val176Ala	missense variant	-	NC_000007.14:g.91265407T>C	TOPMed
rs762437358	p.Cys177Gly	missense variant	-	NC_000007.14:g.91265409T>G	ExAC,gnomAD
rs773662622	p.Val179Leu	missense variant	-	NC_000007.14:g.91265415G>C	ExAC,gnomAD
rs757226244	p.Arg188His	missense variant	-	NC_000007.14:g.91265443G>A	ExAC,TOPMed,gnomAD
rs1466437511	p.Arg188Cys	missense variant	-	NC_000007.14:g.91265442C>T	TOPMed
rs757226244	p.Arg188Leu	missense variant	-	NC_000007.14:g.91265443G>T	ExAC,TOPMed,gnomAD
rs757226244	p.Arg188Pro	missense variant	-	NC_000007.14:g.91265443G>C	ExAC,TOPMed,gnomAD
rs1466437511	p.Arg188Cys	missense variant	-	NC_000007.14:g.91265442C>T	NCI-TCGA
rs200651234	p.Ser189Pro	missense variant	-	NC_000007.14:g.91265445T>C	gnomAD
rs1274652473	p.Leu190Gln	missense variant	-	NC_000007.14:g.91265449T>A	gnomAD
rs1220181607	p.Glu192Lys	missense variant	-	NC_000007.14:g.91265454G>A	gnomAD
rs1220181607	p.Glu192Gln	missense variant	-	NC_000007.14:g.91265454G>C	gnomAD
rs746687511	p.Arg193Ser	missense variant	-	NC_000007.14:g.91265457C>A	ExAC,gnomAD
rs746687511	p.Arg193Gly	missense variant	-	NC_000007.14:g.91265457C>G	ExAC,gnomAD
rs780894315	p.Arg193Leu	missense variant	-	NC_000007.14:g.91265458G>T	ExAC,gnomAD
rs1185499359	p.Ala194Ser	missense variant	-	NC_000007.14:g.91265460G>T	TOPMed
rs770493888	p.Ala194Val	missense variant	-	NC_000007.14:g.91265461C>T	ExAC,gnomAD
COSM3995736	p.Arg195His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91265464G>A	NCI-TCGA Cosmic
rs1421872447	p.Gln196Arg	missense variant	-	NC_000007.14:g.91265467A>G	TOPMed,gnomAD
rs1407256117	p.Leu201Ile	missense variant	-	NC_000007.14:g.91265481C>A	gnomAD
rs1340503008	p.Met202Val	missense variant	-	NC_000007.14:g.91265484A>G	gnomAD
rs757876150	p.Phe205Leu	missense variant	-	NC_000007.14:g.91265495C>G	ExAC,gnomAD
rs1227396990	p.Gln208Pro	missense variant	-	NC_000007.14:g.91265503A>C	gnomAD
rs1227396990	p.Gln208Arg	missense variant	-	NC_000007.14:g.91265503A>G	gnomAD
rs759776876	p.Gln208Ter	stop gained	-	NC_000007.14:g.91265502C>T	ExAC,gnomAD
rs1361012717	p.Thr212Met	missense variant	-	NC_000007.14:g.91265515C>T	gnomAD
rs1327013250	p.Thr212Pro	missense variant	-	NC_000007.14:g.91265514A>C	gnomAD
rs1262354665	p.Lys214Thr	missense variant	-	NC_000007.14:g.91265521A>C	gnomAD
rs375615564	p.Glu216Gly	missense variant	-	NC_000007.14:g.91265527A>G	ESP,TOPMed
rs1447552283	p.Lys217Glu	missense variant	-	NC_000007.14:g.91265529A>G	gnomAD
rs764174904	p.Pro219Leu	missense variant	-	NC_000007.14:g.91265536C>T	ExAC,gnomAD
rs1380171458	p.His221Tyr	missense variant	-	NC_000007.14:g.91265541C>T	TOPMed
rs1471896225	p.Gly222Val	missense variant	-	NC_000007.14:g.91265545G>T	gnomAD
rs953040877	p.Glu225Gln	missense variant	-	NC_000007.14:g.91265553G>C	TOPMed,gnomAD
rs1426604246	p.Leu226Val	missense variant	-	NC_000007.14:g.91265556C>G	gnomAD
rs369203224	p.Gln230Arg	missense variant	-	NC_000007.14:g.91265569A>G	ESP,ExAC,gnomAD
rs758313232	p.Thr232Lys	missense variant	-	NC_000007.14:g.91265575C>A	ExAC,gnomAD
rs758313232	p.Thr232Met	missense variant	-	NC_000007.14:g.91265575C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser233Pro	missense variant	-	NC_000007.14:g.91265577T>C	NCI-TCGA
rs1315337038	p.Thr237Asn	missense variant	-	NC_000007.14:g.91265590C>A	gnomAD
rs780990701	p.Thr239Met	missense variant	-	NC_000007.14:g.91265596C>T	ExAC,gnomAD
rs373279227	p.Pro240Leu	missense variant	-	NC_000007.14:g.91265599C>T	ESP,ExAC,TOPMed,gnomAD
rs1441658373	p.Leu243Val	missense variant	-	NC_000007.14:g.91265607C>G	gnomAD
rs1184026542	p.Pro244Leu	missense variant	-	NC_000007.14:g.91265611C>T	gnomAD
NCI-TCGA novel	p.Phe246Leu	missense variant	-	NC_000007.14:g.91265618C>G	NCI-TCGA
rs771421343	p.Trp247Cys	missense variant	-	NC_000007.14:g.91265621G>T	ExAC,gnomAD
rs377303160	p.Trp247Arg	missense variant	-	NC_000007.14:g.91265619T>C	ESP,gnomAD
rs1384880200	p.Thr248Ile	missense variant	-	NC_000007.14:g.91265623C>T	TOPMed
rs956567871	p.Ser249Asn	missense variant	-	NC_000007.14:g.91265626G>A	TOPMed,gnomAD
rs1400451046	p.Asn250Ser	missense variant	-	NC_000007.14:g.91265629A>G	gnomAD
NCI-TCGA novel	p.Pro251Thr	missense variant	-	NC_000007.14:g.91265631C>A	NCI-TCGA
rs775700785	p.Gln252Leu	missense variant	-	NC_000007.14:g.91265635A>T	ExAC,gnomAD
rs772338017	p.Gln252Lys	missense variant	-	NC_000007.14:g.91265634C>A	ExAC,TOPMed,gnomAD
rs772338017	p.Gln252Glu	missense variant	-	NC_000007.14:g.91265634C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln252Arg	missense variant	-	NC_000007.14:g.91265635A>G	NCI-TCGA
rs776721357	p.Gly254Asp	missense variant	-	NC_000007.14:g.91265641G>A	ExAC,gnomAD
rs768647155	p.Gly254Arg	missense variant	-	NC_000007.14:g.91265640G>C	ExAC,TOPMed,gnomAD
rs1335868430	p.Gly255Ser	missense variant	-	NC_000007.14:g.91265643G>A	gnomAD
rs1480296118	p.Gly255Asp	missense variant	-	NC_000007.14:g.91265644G>A	TOPMed
rs1480296118	p.Gly255Asp	missense variant	-	NC_000007.14:g.91265644G>A	NCI-TCGA
rs987926317	p.Gly256Glu	missense variant	-	NC_000007.14:g.91265647G>A	TOPMed,gnomAD
rs762843825	p.Gly257Glu	missense variant	-	NC_000007.14:g.91265650G>A	ExAC,TOPMed,gnomAD
rs766305637	p.Arg259Pro	missense variant	-	NC_000007.14:g.91265656G>C	ExAC,TOPMed,gnomAD
rs1484574228	p.Gly261Ser	missense variant	-	NC_000007.14:g.91265661G>A	TOPMed,gnomAD
rs1484574228	p.Gly261Arg	missense variant	-	NC_000007.14:g.91265661G>C	TOPMed,gnomAD
rs759395222	p.Gly261Asp	missense variant	-	NC_000007.14:g.91265662G>A	ExAC,TOPMed,gnomAD
rs759395222	p.Gly261Val	missense variant	-	NC_000007.14:g.91265662G>T	ExAC,TOPMed,gnomAD
rs1196989236	p.Phe262Leu	missense variant	-	NC_000007.14:g.91265664T>C	gnomAD
rs1305449013	p.Pro263Leu	missense variant	-	NC_000007.14:g.91265668C>T	TOPMed
rs753366851	p.Gly264Ala	missense variant	-	NC_000007.14:g.91265671G>C	ExAC,gnomAD
rs753366851	p.Gly264Glu	missense variant	-	NC_000007.14:g.91265671G>A	ExAC,gnomAD
rs199856015	p.Gly265Asp	missense variant	-	NC_000007.14:g.91265674G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199856015	p.Gly265Val	missense variant	-	NC_000007.14:g.91265674G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM4685950	p.Gly265AlaPheSerTerUnkUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.91265669G>-	NCI-TCGA Cosmic
rs1408766136	p.Gly267Arg	missense variant	-	NC_000007.14:g.91265679G>C	gnomAD
rs772427888	p.Gly267Asp	missense variant	-	NC_000007.14:g.91265680G>A	ExAC,gnomAD
rs747214552	p.Ser269Trp	missense variant	-	NC_000007.14:g.91265686C>G	ExAC,gnomAD
rs768896364	p.Arg271Leu	missense variant	-	NC_000007.14:g.91265692G>T	ExAC,gnomAD
rs1156717624	p.Gly272Ser	missense variant	-	NC_000007.14:g.91265694G>A	TOPMed
rs1418244473	p.Lys273Thr	missense variant	-	NC_000007.14:g.91265698A>C	TOPMed
rs1393609613	p.Lys273Glu	missense variant	-	NC_000007.14:g.91265697A>G	gnomAD
rs940876191	p.Ser275Phe	missense variant	-	NC_000007.14:g.91265704C>T	TOPMed,gnomAD
rs1429929419	p.Ser275Pro	missense variant	-	NC_000007.14:g.91265703T>C	TOPMed
rs1489639706	p.Cys276Phe	missense variant	-	NC_000007.14:g.91265707G>T	TOPMed
rs1284885739	p.Cys276Trp	missense variant	-	NC_000007.14:g.91265708C>G	gnomAD
rs770834506	p.Arg278Cys	missense variant	-	NC_000007.14:g.91265712C>T	ExAC,gnomAD
rs1454134426	p.Arg278His	missense variant	-	NC_000007.14:g.91265713G>A	gnomAD
rs565335389	p.Ala279Ser	missense variant	-	NC_000007.14:g.91265715G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs565335389	p.Ala279Pro	missense variant	-	NC_000007.14:g.91265715G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1205194443	p.Leu280Phe	missense variant	-	NC_000007.14:g.91265718C>T	TOPMed
rs1197620879	p.Lys281Glu	missense variant	-	NC_000007.14:g.91265721A>G	gnomAD
rs767453970	p.Lys281Arg	missense variant	-	NC_000007.14:g.91265722A>G	ExAC,gnomAD
rs752492991	p.Val282Met	missense variant	-	NC_000007.14:g.91265724G>A	ExAC,gnomAD
rs534451306	p.Ser284Phe	missense variant	-	NC_000007.14:g.91265731C>T	1000Genomes,ExAC,gnomAD
rs1170243185	p.Asn287Ser	missense variant	-	NC_000007.14:g.91265740A>G	gnomAD
rs763772148	p.Asn287Asp	missense variant	-	NC_000007.14:g.91265739A>G	ExAC,gnomAD
rs1486672564	p.Asn287Lys	missense variant	-	NC_000007.14:g.91265741C>A	TOPMed
COSM3833447	p.Asn287His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91265739A>C	NCI-TCGA Cosmic
rs1373286616	p.Tyr288His	missense variant	-	NC_000007.14:g.91265742T>C	gnomAD
rs368609459	p.Tyr288Cys	missense variant	-	NC_000007.14:g.91265743A>G	ESP,ExAC,TOPMed,gnomAD
rs778327398	p.His289Asp	missense variant	-	NC_000007.14:g.91265745C>G	ExAC,TOPMed,gnomAD
rs1036532382	p.Phe290Leu	missense variant	-	NC_000007.14:g.91265748T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Leu291Met	missense variant	-	NC_000007.14:g.91265751C>A	NCI-TCGA
rs758851020	p.Gly292Ala	missense variant	-	NC_000007.14:g.91265755G>C	ExAC,gnomAD
rs901971943	p.Ala298Val	missense variant	-	NC_000007.14:g.91265773C>T	TOPMed,gnomAD
rs768823215	p.Pro302Leu	missense variant	-	NC_000007.14:g.91265785C>T	ExAC,TOPMed,gnomAD
rs768823215	p.Pro302Gln	missense variant	-	NC_000007.14:g.91265785C>A	ExAC,TOPMed,gnomAD
rs781467339	p.Thr303Ile	missense variant	-	NC_000007.14:g.91265788C>T	ExAC,TOPMed,gnomAD
rs1288456169	p.Lys304Asn	missense variant	-	NC_000007.14:g.91265792G>C	TOPMed
rs1223388464	p.Tyr306Cys	missense variant	-	NC_000007.14:g.91265797A>G	gnomAD
rs1223388464	p.Tyr306Cys	missense variant	-	NC_000007.14:g.91265797A>G	NCI-TCGA
rs1487632879	p.Leu308His	missense variant	-	NC_000007.14:g.91265803T>A	gnomAD
NCI-TCGA novel	p.Leu308Phe	missense variant	-	NC_000007.14:g.91265802C>T	NCI-TCGA
rs998933986	p.Met309Leu	missense variant	-	NC_000007.14:g.91265805A>C	TOPMed,gnomAD
rs998933986	p.Met309Val	missense variant	-	NC_000007.14:g.91265805A>G	TOPMed,gnomAD
rs773388012	p.Met309Thr	missense variant	-	NC_000007.14:g.91265806T>C	ExAC,gnomAD
rs1162294582	p.Tyr310Ser	missense variant	-	NC_000007.14:g.91265809A>C	gnomAD
NCI-TCGA novel	p.Tyr310Asp	missense variant	-	NC_000007.14:g.91265808T>G	NCI-TCGA
rs1428494939	p.Pro313Ser	missense variant	-	NC_000007.14:g.91265817C>T	TOPMed
rs1164977135	p.Glu314Lys	missense variant	-	NC_000007.14:g.91265820G>A	gnomAD
rs1358536884	p.Glu314Val	missense variant	-	NC_000007.14:g.91265821A>T	gnomAD
NCI-TCGA novel	p.Glu315Ala	missense variant	-	NC_000007.14:g.91265824A>C	NCI-TCGA
rs959913632	p.Leu316Met	missense variant	-	NC_000007.14:g.91265826C>A	gnomAD
rs959913632	p.Leu316Val	missense variant	-	NC_000007.14:g.91265826C>G	gnomAD
rs367552951	p.Arg317Ser	missense variant	-	NC_000007.14:g.91265829C>A	ESP,ExAC,TOPMed,gnomAD
rs367552951	p.Arg317Cys	missense variant	-	NC_000007.14:g.91265829C>T	ESP,ExAC,TOPMed,gnomAD
rs367552951	p.Arg317Gly	missense variant	-	NC_000007.14:g.91265829C>G	ESP,ExAC,TOPMed,gnomAD
rs776348766	p.Thr321Ile	missense variant	-	NC_000007.14:g.91265842C>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr321CysPheSerTerUnkUnkUnk	frameshift	-	NC_000007.14:g.91265788_91265789insCAAGGTGTATGGGCTCATGTACTTCGGGCCCGAGGAGCTGCGCTTCT	NCI-TCGA
rs545945483	p.Ile323Thr	missense variant	-	NC_000007.14:g.91265848T>C	ExAC,TOPMed,gnomAD
rs749909829	p.Ile325Val	missense variant	-	NC_000007.14:g.91265853A>G	ExAC,gnomAD
rs1215711547	p.Val328Met	missense variant	-	NC_000007.14:g.91265862G>A	gnomAD
NCI-TCGA novel	p.Val328Leu	missense variant	-	NC_000007.14:g.91265862G>C	NCI-TCGA
rs758940744	p.Cys331Phe	missense variant	-	NC_000007.14:g.91265872G>T	ExAC,gnomAD
rs766862839	p.Ala332Val	missense variant	-	NC_000007.14:g.91265875C>T	ExAC,gnomAD
rs751929647	p.Ser333Phe	missense variant	-	NC_000007.14:g.91265878C>T	ExAC,gnomAD
rs1242108671	p.Ser333Ala	missense variant	-	NC_000007.14:g.91265877T>G	gnomAD
rs1377959136	p.Thr337Ala	missense variant	-	NC_000007.14:g.91265889A>G	gnomAD
rs78712424	p.Leu342Met	missense variant	-	NC_000007.14:g.91265904C>A	TOPMed
NCI-TCGA novel	p.Leu342Pro	missense variant	-	NC_000007.14:g.91265905T>C	NCI-TCGA
rs3750146	p.Val343Met	missense variant	-	NC_000007.14:g.91265907G>A	UniProt,dbSNP
VAR_049290	p.Val343Met	missense variant	-	NC_000007.14:g.91265907G>A	UniProt
rs3750146	p.Val343Met	missense variant	-	NC_000007.14:g.91265907G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1335922942	p.Met345Val	missense variant	-	NC_000007.14:g.91265913A>G	TOPMed,gnomAD
rs1324697796	p.Arg346Gly	missense variant	-	NC_000007.14:g.91265916C>G	TOPMed
rs1453673890	p.Phe348Leu	missense variant	-	NC_000007.14:g.91265922T>C	gnomAD
NCI-TCGA novel	p.Glu352Lys	missense variant	-	NC_000007.14:g.91265934G>A	NCI-TCGA
rs1371319481	p.Ile355Met	missense variant	-	NC_000007.14:g.91265945C>G	gnomAD
rs139681941	p.Phe357Leu	missense variant	-	NC_000007.14:g.91265951C>G	ESP,ExAC,TOPMed,gnomAD
rs749347940	p.Phe357Ile	missense variant	-	NC_000007.14:g.91265949T>A	ExAC,TOPMed,gnomAD
rs749347940	p.Phe357Leu	missense variant	-	NC_000007.14:g.91265949T>C	ExAC,TOPMed,gnomAD
rs749347940	p.Phe357Ile	missense variant	-	NC_000007.14:g.91265949T>A	NCI-TCGA,NCI-TCGA Cosmic
rs374891047	p.Leu358Phe	missense variant	-	NC_000007.14:g.91265954G>C	ESP,ExAC,gnomAD
rs1262969470	p.Ser359Cys	missense variant	-	NC_000007.14:g.91265956C>G	gnomAD
rs746854638	p.Gly360Ser	missense variant	-	NC_000007.14:g.91265958G>A	ExAC,gnomAD
rs768525969	p.Tyr362Cys	missense variant	-	NC_000007.14:g.91265965A>G	ExAC,gnomAD
rs776239506	p.Thr363Lys	missense variant	-	NC_000007.14:g.91265968C>A	ExAC,TOPMed,gnomAD
rs776239506	p.Thr363Arg	missense variant	-	NC_000007.14:g.91265968C>G	ExAC,TOPMed,gnomAD
rs1251690734	p.Thr363Ala	missense variant	-	NC_000007.14:g.91265967A>G	gnomAD
rs776239506	p.Thr363Met	missense variant	-	NC_000007.14:g.91265968C>T	ExAC,TOPMed,gnomAD
rs761499766	p.Ala364Val	missense variant	-	NC_000007.14:g.91265971C>T	ExAC
rs556841355	p.Val367Met	missense variant	-	NC_000007.14:g.91265979G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs772772421	p.Ala368Gly	missense variant	-	NC_000007.14:g.91265983C>G	ExAC,gnomAD
rs1177318264	p.Ala368Thr	missense variant	-	NC_000007.14:g.91265982G>A	gnomAD
rs772772421	p.Ala368Val	missense variant	-	NC_000007.14:g.91265983C>T	ExAC,gnomAD
COSM1452735	p.Tyr369His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91265985T>C	NCI-TCGA Cosmic
rs1175373250	p.Ile370Leu	missense variant	-	NC_000007.14:g.91265988A>C	gnomAD
rs1429742768	p.Ala371Val	missense variant	-	NC_000007.14:g.91265992C>T	gnomAD
NCI-TCGA novel	p.Gly372Ser	missense variant	-	NC_000007.14:g.91265994G>A	NCI-TCGA
rs752115856	p.Phe373Val	missense variant	-	NC_000007.14:g.91265997T>G	ExAC,TOPMed,gnomAD
rs752115856	p.Phe373Leu	missense variant	-	NC_000007.14:g.91265997T>C	ExAC,TOPMed,gnomAD
rs755402187	p.Leu375Met	missense variant	-	NC_000007.14:g.91266003C>A	ExAC,TOPMed,gnomAD
rs143614174	p.Asp377Asn	missense variant	-	NC_000007.14:g.91266009G>A	ESP,ExAC,gnomAD
rs143614174	p.Asp377Asn	missense variant	-	NC_000007.14:g.91266009G>A	NCI-TCGA
rs1376149944	p.Val379Met	missense variant	-	NC_000007.14:g.91266015G>A	gnomAD
rs542894604	p.Asp383Glu	missense variant	-	NC_000007.14:g.91266029C>A	1000Genomes,ExAC,gnomAD
rs1222231459	p.Asp383Asn	missense variant	-	NC_000007.14:g.91266027G>A	TOPMed,gnomAD
rs778137101	p.Lys384Met	missense variant	-	NC_000007.14:g.91266031A>T	ExAC,gnomAD
rs778816712	p.Ala390Thr	missense variant	-	NC_000007.14:g.91266048G>A	ExAC,gnomAD
rs746987223	p.Ala390Val	missense variant	-	NC_000007.14:g.91266049C>T	ExAC,TOPMed,gnomAD
rs1487427379	p.Arg391Gly	missense variant	-	NC_000007.14:g.91266051C>G	gnomAD
rs768453043	p.Thr392Ile	missense variant	-	NC_000007.14:g.91266055C>T	ExAC,gnomAD
rs1481281808	p.Ala394Val	missense variant	-	NC_000007.14:g.91266061C>T	gnomAD
rs781079161	p.Ala394Thr	missense variant	-	NC_000007.14:g.91266060G>A	ExAC,gnomAD
rs1338011696	p.Thr397Ile	missense variant	-	NC_000007.14:g.91266070C>T	TOPMed
rs1250889976	p.Thr403Ser	missense variant	-	NC_000007.14:g.91266088C>G	TOPMed
rs747929584	p.Ile404Thr	missense variant	-	NC_000007.14:g.91266091T>C	ExAC,TOPMed,gnomAD
rs1361919859	p.Leu405Val	missense variant	-	NC_000007.14:g.91266093C>G	TOPMed
rs762530569	p.Met408Ile	missense variant	-	NC_000007.14:g.91266104G>A	ExAC,gnomAD
rs559829750	p.Leu409Phe	missense variant	-	NC_000007.14:g.91266105C>T	1000Genomes,ExAC,gnomAD
rs528481255	p.Leu409His	missense variant	-	NC_000007.14:g.91266106T>A	1000Genomes,ExAC,gnomAD
rs559829750	p.Leu409Val	missense variant	-	NC_000007.14:g.91266105C>G	1000Genomes,ExAC,gnomAD
rs767882639	p.Tyr410Phe	missense variant	-	NC_000007.14:g.91266109A>T	ExAC
rs1338283514	p.Ser413Arg	missense variant	-	NC_000007.14:g.91266119C>G	gnomAD
rs201361207	p.Ser413Thr	missense variant	-	NC_000007.14:g.91266118G>C	1000Genomes,ExAC,gnomAD
rs1274449796	p.Ser417Tyr	missense variant	-	NC_000007.14:g.91266130C>A	gnomAD
NCI-TCGA novel	p.Ser417Ala	missense variant	-	NC_000007.14:g.91266129T>G	NCI-TCGA
rs1158451057	p.Trp419Ter	stop gained	-	NC_000007.14:g.91266136G>A	gnomAD
rs754144425	p.Ile422Met	missense variant	-	NC_000007.14:g.91266146C>G	ExAC,gnomAD
rs1166848848	p.Ile422Asn	missense variant	-	NC_000007.14:g.91266145T>A	TOPMed
NCI-TCGA novel	p.Ile422AsnPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.91266143_91266144insA	NCI-TCGA
rs779097158	p.Leu423Val	missense variant	-	NC_000007.14:g.91266147C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser424Pro	missense variant	-	NC_000007.14:g.91266150T>C	NCI-TCGA
rs1269473134	p.Ala430Glu	missense variant	-	NC_000007.14:g.91266169C>A	gnomAD
rs1490838876	p.Ala431Gly	missense variant	-	NC_000007.14:g.91266172C>G	gnomAD
rs1444400261	p.Met433Thr	missense variant	-	NC_000007.14:g.91266178T>C	TOPMed
rs1233884873	p.Met433Ile	missense variant	-	NC_000007.14:g.91266179G>T	TOPMed
COSM3883253	p.Trp435Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.91266185G>A	NCI-TCGA Cosmic
rs1323741534	p.Gly436Ser	missense variant	-	NC_000007.14:g.91266186G>A	TOPMed,gnomAD
rs1241320016	p.His437Asn	missense variant	-	NC_000007.14:g.91266189C>A	gnomAD
COSM1452736	p.Ala439Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266195G>A	NCI-TCGA Cosmic
rs1436630593	p.Ile440Phe	missense variant	-	NC_000007.14:g.91266198A>T	TOPMed
rs1475167632	p.Glu441Asp	missense variant	-	NC_000007.14:g.91266203A>C	gnomAD
COSM5009080	p.Glu441Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266201G>A	NCI-TCGA Cosmic
rs780974515	p.Ala442Gly	missense variant	-	NC_000007.14:g.91266205C>G	ExAC,TOPMed,gnomAD
rs1187357215	p.Ala442Thr	missense variant	-	NC_000007.14:g.91266204G>A	gnomAD
rs1361623397	p.Ala451Ser	missense variant	-	NC_000007.14:g.91266231G>T	TOPMed
rs777508938	p.Ala451Val	missense variant	-	NC_000007.14:g.91266232C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala451Thr	missense variant	-	NC_000007.14:g.91266231G>A	NCI-TCGA
rs371877365	p.Ala453Ser	missense variant	-	NC_000007.14:g.91266237G>T	ESP,ExAC,TOPMed,gnomAD
rs371877365	p.Ala453Thr	missense variant	-	NC_000007.14:g.91266237G>A	ESP,ExAC,TOPMed,gnomAD
COSM3698592	p.Ala453Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266238C>T	NCI-TCGA Cosmic
COSM3883254	p.Pro455Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266243C>T	NCI-TCGA Cosmic
rs1326242104	p.Ile457Val	missense variant	-	NC_000007.14:g.91266249A>G	gnomAD
rs1326242104	p.Ile457Val	missense variant	-	NC_000007.14:g.91266249A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile457Asn	missense variant	-	NC_000007.14:g.91266250T>A	NCI-TCGA
COSM3883255	p.Leu463Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266267C>G	NCI-TCGA Cosmic
rs772694278	p.Gln467Arg	missense variant	-	NC_000007.14:g.91266280A>G	ExAC,gnomAD
rs776155751	p.Asp469Glu	missense variant	-	NC_000007.14:g.91266287C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp469Gly	missense variant	-	NC_000007.14:g.91266286A>G	NCI-TCGA
NCI-TCGA novel	p.Gly470Val	missense variant	-	NC_000007.14:g.91266289G>T	NCI-TCGA
rs565403094	p.Gly470Arg	missense variant	-	NC_000007.14:g.91266288G>C	1000Genomes,ExAC,gnomAD
rs371579888	p.Asp471Asn	missense variant	-	NC_000007.14:g.91266291G>A	gnomAD
rs371579888	p.Asp471His	missense variant	-	NC_000007.14:g.91266291G>C	gnomAD
rs371579888	p.Asp471Tyr	missense variant	-	NC_000007.14:g.91266291G>T	gnomAD
rs762131713	p.Val472Met	missense variant	-	NC_000007.14:g.91266294G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu473Pro	missense variant	-	NC_000007.14:g.91266298T>C	NCI-TCGA
COSM3883256	p.Gly475Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266303G>A	NCI-TCGA Cosmic
rs750570517	p.Val476Ala	missense variant	-	NC_000007.14:g.91266307T>C	ExAC,gnomAD
rs1446935223	p.Leu481Phe	missense variant	-	NC_000007.14:g.91266321C>T	gnomAD
rs139621623	p.Asn482Lys	missense variant	-	NC_000007.14:g.91266326C>G	ESP,ExAC,gnomAD
rs755998616	p.Asn483Ser	missense variant	-	NC_000007.14:g.91266328A>G	ExAC,gnomAD
rs1240879246	p.Val484Met	missense variant	-	NC_000007.14:g.91266330G>A	TOPMed
rs777596824	p.Asp485Val	missense variant	-	NC_000007.14:g.91266334A>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp485Gly	missense variant	-	NC_000007.14:g.91266334A>G	NCI-TCGA
rs749053362	p.Ala486Thr	missense variant	-	NC_000007.14:g.91266336G>A	ExAC,gnomAD
rs749053362	p.Ala486Pro	missense variant	-	NC_000007.14:g.91266336G>C	ExAC,gnomAD
COSM602863	p.Ala486Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266337C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg488His	missense variant	-	NC_000007.14:g.91266343G>A	NCI-TCGA
NCI-TCGA novel	p.Arg488Leu	missense variant	-	NC_000007.14:g.91266343G>T	NCI-TCGA
NCI-TCGA novel	p.Arg488Cys	missense variant	-	NC_000007.14:g.91266342C>T	NCI-TCGA
rs1315053320	p.Phe490Leu	missense variant	-	NC_000007.14:g.91266350C>G	gnomAD
rs1236733468	p.Leu492Val	missense variant	-	NC_000007.14:g.91266354C>G	gnomAD
rs1333940133	p.Ala493Val	missense variant	-	NC_000007.14:g.91266358C>T	TOPMed
rs771512876	p.Leu495Ile	missense variant	-	NC_000007.14:g.91266363C>A	ExAC,gnomAD
rs114840294	p.Val497Gly	missense variant	-	NC_000007.14:g.91266370T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200075522	p.Phe500Leu	missense variant	-	NC_000007.14:g.91266380T>G	ESP,ExAC,TOPMed,gnomAD
rs368484423	p.Gly502Ser	missense variant	-	NC_000007.14:g.91266384G>A	ESP,gnomAD
rs1230940676	p.Gly502Asp	missense variant	-	NC_000007.14:g.91266385G>A	gnomAD
rs368484423	p.Gly502Cys	missense variant	-	NC_000007.14:g.91266384G>T	ESP,gnomAD
rs1230940676	p.Gly502Asp	missense variant	-	NC_000007.14:g.91266385G>A	NCI-TCGA Cosmic
rs368484423	p.Gly502Ser	missense variant	-	NC_000007.14:g.91266384G>A	NCI-TCGA Cosmic
rs368484423	p.Gly502Cys	missense variant	-	NC_000007.14:g.91266384G>T	NCI-TCGA,NCI-TCGA Cosmic
rs1271818016	p.Thr503Met	missense variant	-	NC_000007.14:g.91266388C>T	gnomAD
rs762068983	p.Thr503Ser	missense variant	-	NC_000007.14:g.91266387A>T	ExAC,gnomAD
rs1470830128	p.Leu506Val	missense variant	-	NC_000007.14:g.91266396C>G	gnomAD
rs763198469	p.Leu507Met	missense variant	-	NC_000007.14:g.91266399C>A	ExAC,TOPMed,gnomAD
rs766472938	p.Ala508Val	missense variant	-	NC_000007.14:g.91266403C>T	ExAC,gnomAD
rs972769168	p.Val511Leu	missense variant	-	NC_000007.14:g.91266411G>C	TOPMed
rs972769168	p.Val511Met	missense variant	-	NC_000007.14:g.91266411G>A	TOPMed
rs1222734623	p.Leu513Phe	missense variant	-	NC_000007.14:g.91266417C>T	TOPMed,gnomAD
rs757017279	p.Phe514Cys	missense variant	-	NC_000007.14:g.91266421T>G	ExAC,gnomAD
rs1281098311	p.Arg515Cys	missense variant	-	NC_000007.14:g.91266423C>T	gnomAD
rs778704573	p.Arg515His	missense variant	-	NC_000007.14:g.91266424G>A	ExAC,gnomAD
rs1223946909	p.Ile516Val	missense variant	-	NC_000007.14:g.91266426A>G	gnomAD
rs1263959327	p.Ile516Met	missense variant	-	NC_000007.14:g.91266428C>G	TOPMed,gnomAD
rs1347489084	p.Arg517His	missense variant	-	NC_000007.14:g.91266430G>A	gnomAD
NCI-TCGA novel	p.Arg517Cys	missense variant	-	NC_000007.14:g.91266429C>T	NCI-TCGA
rs892096663	p.Ile519Val	missense variant	-	NC_000007.14:g.91266435A>G	TOPMed,gnomAD
rs377524599	p.Met520Val	missense variant	-	NC_000007.14:g.91266438A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met520Ile	missense variant	-	NC_000007.14:g.91266440G>A	NCI-TCGA
rs1447838105	p.His522Leu	missense variant	-	NC_000007.14:g.91266445A>T	TOPMed
rs746509834	p.Gly524Ala	missense variant	-	NC_000007.14:g.91266451G>C	ExAC,TOPMed,gnomAD
rs1177650649	p.Lys526Asn	missense variant	-	NC_000007.14:g.91266458G>T	gnomAD
rs769342553	p.Lys526Glu	missense variant	-	NC_000007.14:g.91266456A>G	ExAC,gnomAD
rs1348199807	p.Thr527Ile	missense variant	-	NC_000007.14:g.91266460C>T	TOPMed
rs1348199807	p.Thr527Ile	missense variant	-	NC_000007.14:g.91266460C>T	NCI-TCGA
rs1009450887	p.Glu528Ter	stop gained	-	NC_000007.14:g.91266462G>T	TOPMed,gnomAD
rs1166739615	p.Glu528Val	missense variant	-	NC_000007.14:g.91266463A>T	gnomAD
rs1009450887	p.Glu528Gln	missense variant	-	NC_000007.14:g.91266462G>C	TOPMed,gnomAD
rs1009450887	p.Glu528Lys	missense variant	-	NC_000007.14:g.91266462G>A	TOPMed,gnomAD
rs145464476	p.Met534Val	missense variant	-	NC_000007.14:g.91266480A>G	ESP,ExAC,TOPMed,gnomAD
COSM485701	p.Met534Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266482G>T	NCI-TCGA Cosmic
rs763138579	p.Ile537Thr	missense variant	-	NC_000007.14:g.91266490T>C	ExAC,TOPMed,gnomAD
rs763138579	p.Ile537Ser	missense variant	-	NC_000007.14:g.91266490T>G	ExAC,TOPMed,gnomAD
rs766560413	p.Ser541Ile	missense variant	-	NC_000007.14:g.91266502G>T	ExAC,gnomAD
rs759599050	p.Val542Leu	missense variant	-	NC_000007.14:g.91266504G>T	ExAC,gnomAD
rs759599050	p.Val542Met	missense variant	-	NC_000007.14:g.91266504G>A	ExAC,gnomAD
rs564163822	p.Leu543Val	missense variant	-	NC_000007.14:g.91266507C>G	gnomAD
rs767529276	p.Tyr544Phe	missense variant	-	NC_000007.14:g.91266511A>T	ExAC,gnomAD
rs1473605714	p.Tyr544Ter	stop gained	-	NC_000007.14:g.91266512C>A	gnomAD
rs1207442789	p.Thr545Ala	missense variant	-	NC_000007.14:g.91266513A>G	gnomAD
rs1290177855	p.Thr545Ser	missense variant	-	NC_000007.14:g.91266514C>G	gnomAD
rs1200527235	p.Val546Leu	missense variant	-	NC_000007.14:g.91266516G>C	gnomAD
COSM1092846	p.Val546AlaPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.91266515_91266516TG>-	NCI-TCGA Cosmic
rs753725473	p.Ile550Val	missense variant	-	NC_000007.14:g.91266528A>G	ExAC,gnomAD
rs753725473	p.Ile550Val	missense variant	-	NC_000007.14:g.91266528A>G	NCI-TCGA
rs1002028473	p.Val551Ile	missense variant	-	NC_000007.14:g.91266531G>A	TOPMed
rs757168229	p.Ala553Ser	missense variant	-	NC_000007.14:g.91266537G>T	ExAC,gnomAD
rs757168229	p.Ala553Ser	missense variant	-	NC_000007.14:g.91266537G>T	NCI-TCGA
rs764988853	p.Tyr555His	missense variant	-	NC_000007.14:g.91266543T>C	ExAC,gnomAD
rs781169512	p.Tyr555Ter	stop gained	-	NC_000007.14:g.91266545C>A	ExAC,gnomAD
rs202129840	p.Phe556Ser	missense variant	-	NC_000007.14:g.91266547T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe556Leu	missense variant	-	NC_000007.14:g.91266548C>A	NCI-TCGA
rs1380692271	p.Arg562Trp	missense variant	-	NC_000007.14:g.91266564C>T	gnomAD
rs139043437	p.Arg562Gln	missense variant	-	NC_000007.14:g.91266565G>A	ESP,ExAC,TOPMed,gnomAD
rs1380692271	p.Arg562Trp	missense variant	-	NC_000007.14:g.91266564C>T	NCI-TCGA Cosmic
rs1230692030	p.Asp563His	missense variant	-	NC_000007.14:g.91266567G>C	gnomAD
COSM747604	p.Asp563Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266567G>T	NCI-TCGA Cosmic
rs1359270698	p.Gln564Ter	stop gained	-	NC_000007.14:g.91266570C>T	gnomAD
COSM3883259	p.Glu566Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266577A>C	NCI-TCGA Cosmic
rs984834944	p.Arg567His	missense variant	-	NC_000007.14:g.91266580G>A	TOPMed,gnomAD
rs147921120	p.Arg567Gly	missense variant	-	NC_000007.14:g.91266579C>G	1000Genomes,ExAC,gnomAD
rs147921120	p.Arg567Cys	missense variant	-	NC_000007.14:g.91266579C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Arg567Leu	missense variant	-	NC_000007.14:g.91266580G>T	NCI-TCGA
rs367770320	p.Ser568Arg	missense variant	-	NC_000007.14:g.91266584C>G	ESP,ExAC,TOPMed,gnomAD
rs770315530	p.Ser573Arg	missense variant	-	NC_000007.14:g.91266599C>G	ExAC,TOPMed,gnomAD
rs1204961180	p.Ser573Cys	missense variant	-	NC_000007.14:g.91266597A>T	TOPMed,gnomAD
rs370079514	p.Ser576Cys	missense variant	-	NC_000007.14:g.91266606A>T	ESP,ExAC,TOPMed,gnomAD
rs1267331657	p.Tyr577Asp	missense variant	-	NC_000007.14:g.91266609T>G	TOPMed
rs771201635	p.Ile579Thr	missense variant	-	NC_000007.14:g.91266616T>C	ExAC,gnomAD
rs749662690	p.Ile579Val	missense variant	-	NC_000007.14:g.91266615A>G	ExAC,gnomAD
rs1325637188	p.Pro580Ser	missense variant	-	NC_000007.14:g.91266618C>T	NCI-TCGA Cosmic
rs1325637188	p.Pro580Ser	missense variant	-	NC_000007.14:g.91266618C>T	TOPMed
rs772172455	p.Pro582Ser	missense variant	-	NC_000007.14:g.91266624C>T	ExAC,TOPMed,gnomAD
rs1405929513	p.His583Tyr	missense variant	-	NC_000007.14:g.91266627C>T	TOPMed,gnomAD
rs775615498	p.His583Pro	missense variant	-	NC_000007.14:g.91266628A>C	ExAC,gnomAD
rs141366978	p.Leu584Phe	missense variant	-	NC_000007.14:g.91266630C>T	ESP,ExAC,TOPMed,gnomAD
rs200835205	p.Ala586Glu	missense variant	-	NC_000007.14:g.91266637C>A	ExAC,TOPMed,gnomAD
rs752224375	p.Gly588Glu	missense variant	-	NC_000007.14:g.91266643G>A	ExAC,gnomAD
rs752224375	p.Gly588Glu	missense variant	-	NC_000007.14:g.91266643G>A	NCI-TCGA,NCI-TCGA Cosmic
rs778330881	p.Gly589Ala	missense variant	-	NC_000007.14:g.91266646G>C	ExAC,gnomAD
rs143330366	p.Ala590Thr	missense variant	-	NC_000007.14:g.91266648G>A	ESP,ExAC,TOPMed,gnomAD
rs143330366	p.Ala590Pro	missense variant	-	NC_000007.14:g.91266648G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala590Val	missense variant	-	NC_000007.14:g.91266649C>T	NCI-TCGA
rs779211016	p.Pro591Ser	missense variant	-	NC_000007.14:g.91266651C>T	ExAC,TOPMed,gnomAD
rs746136687	p.His593Tyr	missense variant	-	NC_000007.14:g.91266657C>T	ExAC,gnomAD
rs772250118	p.Pro594Ser	missense variant	-	NC_000007.14:g.91266660C>T	ExAC,gnomAD
rs772250118	p.Pro594Ala	missense variant	-	NC_000007.14:g.91266660C>G	ExAC,gnomAD
rs773202092	p.Pro595Arg	missense variant	-	NC_000007.14:g.91266664C>G	ExAC,TOPMed,gnomAD
rs760794294	p.Pro595Ser	missense variant	-	NC_000007.14:g.91266663C>T	ExAC,gnomAD
rs760794294	p.Pro595Thr	missense variant	-	NC_000007.14:g.91266663C>A	ExAC,gnomAD
rs1159490971	p.Ser597Gly	missense variant	-	NC_000007.14:g.91266669A>G	TOPMed,gnomAD
rs1413947382	p.Pro598Gln	missense variant	-	NC_000007.14:g.91266673C>A	TOPMed,gnomAD
rs1413947382	p.Pro598Leu	missense variant	-	NC_000007.14:g.91266673C>T	TOPMed,gnomAD
rs1413947382	p.Pro598Arg	missense variant	-	NC_000007.14:g.91266673C>G	TOPMed,gnomAD
rs1209255115	p.Asp599Asn	missense variant	-	NC_000007.14:g.91266675G>A	TOPMed
rs1334944246	p.Phe600Leu	missense variant	-	NC_000007.14:g.91266680C>G	gnomAD
NCI-TCGA novel	p.Phe600Val	missense variant	-	NC_000007.14:g.91266678T>G	NCI-TCGA
rs766297031	p.Thr601Met	missense variant	-	NC_000007.14:g.91266682C>T	ExAC,TOPMed,gnomAD
rs766297031	p.Thr601Arg	missense variant	-	NC_000007.14:g.91266682C>G	ExAC,TOPMed,gnomAD
rs1212277097	p.Phe603Leu	missense variant	-	NC_000007.14:g.91266687T>C	TOPMed
rs1341074441	p.Met604Lys	missense variant	-	NC_000007.14:g.91266691T>A	TOPMed
rs1371741004	p.Lys606Arg	missense variant	-	NC_000007.14:g.91266697A>G	gnomAD
rs752211281	p.Thr610Arg	missense variant	-	NC_000007.14:g.91266709C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr610Ser	missense variant	-	NC_000007.14:g.91266708A>T	NCI-TCGA
rs752211281	p.Thr610Met	missense variant	-	NC_000007.14:g.91266709C>T	ExAC,TOPMed,gnomAD
rs1289329882	p.Leu611Met	missense variant	-	NC_000007.14:g.91266711C>A	gnomAD
rs1289329882	p.Leu611Met	missense variant	-	NC_000007.14:g.91266711C>A	NCI-TCGA
NCI-TCGA novel	p.Gly614Asp	missense variant	-	NC_000007.14:g.91266721G>A	NCI-TCGA
rs1292178545	p.Ile615Val	missense variant	-	NC_000007.14:g.91266723A>G	gnomAD
rs1443633951	p.Thr616Pro	missense variant	-	NC_000007.14:g.91266726A>C	TOPMed
rs1262089052	p.Ser617Pro	missense variant	-	NC_000007.14:g.91266729T>C	gnomAD
COSM6110806	p.Ser617Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266730C>T	NCI-TCGA Cosmic
rs1429143613	p.Gly618Val	missense variant	-	NC_000007.14:g.91266733G>T	TOPMed
rs1386119970	p.Phe619Ile	missense variant	-	NC_000007.14:g.91266735T>A	TOPMed
rs757714719	p.Ile621Thr	missense variant	-	NC_000007.14:g.91266742T>C	ExAC,gnomAD
COSM3883261	p.Ile621Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266742T>A	NCI-TCGA Cosmic
COSM3642166	p.Ser623Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266748C>T	NCI-TCGA Cosmic
rs1356235443	p.Gly624Asp	missense variant	-	NC_000007.14:g.91266751G>A	gnomAD
NCI-TCGA novel	p.Gly624Cys	missense variant	-	NC_000007.14:g.91266750G>T	NCI-TCGA
COSM3883262	p.Gly624Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266750G>A	NCI-TCGA Cosmic
rs1211599576	p.Lys625Glu	missense variant	-	NC_000007.14:g.91266753A>G	gnomAD
rs1480246447	p.Asn628Lys	missense variant	-	NC_000007.14:g.91266764C>A	gnomAD
rs117293522	p.Asn628Ser	missense variant	-	NC_000007.14:g.91266763A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756059530	p.Ser629Pro	missense variant	-	NC_000007.14:g.91266765T>C	TOPMed
rs756059530	p.Ser629Ala	missense variant	-	NC_000007.14:g.91266765T>G	TOPMed
rs746224793	p.Trp630Ter	stop gained	-	NC_000007.14:g.91266770G>A	ExAC,gnomAD
rs780333274	p.Tyr634Ser	missense variant	-	NC_000007.14:g.91266781A>C	ExAC,gnomAD
rs776800679	p.Thr638Pro	missense variant	-	NC_000007.14:g.91266792A>C	ExAC,gnomAD
COSM4401599	p.Thr638Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266793C>T	NCI-TCGA Cosmic
rs749290137	p.Asn639Ser	missense variant	-	NC_000007.14:g.91266796A>G	ExAC,gnomAD
rs1352866231	p.Asn639Lys	missense variant	-	NC_000007.14:g.91266797C>G	gnomAD
rs993880464	p.Asn639Asp	missense variant	-	NC_000007.14:g.91266795A>G	TOPMed
rs1461875848	p.Gln642Arg	missense variant	-	NC_000007.14:g.91266805A>G	gnomAD
rs1309142785	p.Gly643Glu	missense variant	-	NC_000007.14:g.91266808G>A	gnomAD
COSM3642167	p.Gly643Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266807G>A	NCI-TCGA Cosmic
rs1352903371	p.Val647Gly	missense variant	-	NC_000007.14:g.91266820T>G	gnomAD
COSM1452738	p.Val647Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266819G>T	NCI-TCGA Cosmic

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0009324	Ulcerative Colitis	disease	BEFREE
C0011570	Mental Depression	disease	BEFREE
C0011581	Depressive disorder	disease	BEFREE
C0014859	Esophageal Neoplasms	group	BEFREE
C0025149	Medulloblastoma	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027708	Nephroblastoma	disease	BEFREE
C0027819	Neuroblastoma	group	BEFREE
C0029463	Osteosarcoma	disease	BEFREE
C0040136	Thyroid Neoplasm	disease	BEFREE
C0152018	Esophageal carcinoma	disease	BEFREE
C0175694	Smith-Lemli-Opitz Syndrome	disease	BEFREE
C0175702	Williams Syndrome	disease	BEFREE
C0206664	Teratocarcinoma	disease	BEFREE
C0206682	Follicular thyroid carcinoma	disease	BEFREE
C0221002	Hyperparathyroidism, Primary	disease	BEFREE
C0262587	Parathyroid Adenoma	disease	BEFREE
C0339539	Familial Exudative Vitreoretinopathy	disease	BEFREE
C0546837	Malignant neoplasm of esophagus	disease	BEFREE
C0585442	Osteosarcoma of bone	disease	BEFREE
C0677936	Refractory cancer	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0850572	Adenomatous polyp of colon	disease	BEFREE
C0853879	Invasive carcinoma of breast	disease	BEFREE
C0854917	Rhabdoid Tumor of the Kidney	disease	BEFREE
C0919267	ovarian neoplasm	disease	LHGDN
C1800706	Idiopathic Pulmonary Fibrosis	disease	LHGDN
C1834405	Nail dysplasia	disease	BEFREE
C3279947	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	disease	BEFREE
C3539878	Triple Negative Breast Neoplasms	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004930	G protein-coupled receptor activity	IEA
GO:0005102	signaling receptor binding	IPI
GO:0005109	frizzled binding	IPI
GO:0005515	protein binding	IPI
GO:0017147	Wnt-protein binding	IPI
GO:0017147	Wnt-protein binding	IBA
GO:0017147	Wnt-protein binding	NAS
GO:0030165	PDZ domain binding	IPI
GO:0042813	Wnt-activated receptor activity	IDA
GO:0042813	Wnt-activated receptor activity	IBA
GO:0042813	Wnt-activated receptor activity	NAS
GO:0042813	Wnt-activated receptor activity	TAS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001934	positive regulation of protein phosphorylation	IEA
GO:0003149	membranous septum morphogenesis	IEA
GO:0003150	muscular septum morphogenesis	IEA
GO:0003151	outflow tract morphogenesis	IEA
GO:0007186	G protein-coupled receptor signaling pathway	IEA
GO:0007267	cell-cell signaling	IDA
GO:0010976	positive regulation of neuron projection development	ISS
GO:0030182	neuron differentiation	ISS
GO:0030514	negative regulation of BMP signaling pathway	IEA
GO:0030855	epithelial cell differentiation	IEA
GO:0035425	autocrine signaling	IDA
GO:0036520	astrocyte-dopaminergic neuron signaling	IEA
GO:0042493	response to drug	IMP
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:0045892	negative regulation of transcription, DNA-templated	IEA
GO:0045893	positive regulation of transcription, DNA-templated	IDA
GO:0051091	positive regulation of DNA-binding transcription factor activity	IDA
GO:0060022	hard palate development	IEA
GO:0060070	canonical Wnt signaling pathway	IDA
GO:0060070	canonical Wnt signaling pathway	IGI
GO:0060070	canonical Wnt signaling pathway	IBA
GO:0060070	canonical Wnt signaling pathway	NAS
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	TAS
GO:0090090	negative regulation of canonical Wnt signaling pathway	IEA
GO:0090179	planar cell polarity pathway involved in neural tube closure	IEA
GO:0099054	presynapse assembly	TAS
GO:1903204	negative regulation of oxidative stress-induced neuron death	IEA
GO:1904886	beta-catenin destruction complex disassembly	TAS
GO:1904953	Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation	NAS
GO:1905606	regulation of presynapse assembly	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005886	plasma membrane	IBA
GO:0005886	plasma membrane	TAS
GO:0005925	focal adhesion	HDA
GO:0009986	cell surface	IDA
GO:0016021	integral component of membrane	IBA
GO:1990909	Wnt signalosome	IC

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	IEA
R-HSA-162582	Signal Transduction	TAS
R-HSA-195721	Signaling by WNT	IEA
R-HSA-195721	Signaling by WNT	TAS
R-HSA-201681	TCF dependent signaling in response to WNT	TAS
R-HSA-201681	TCF dependent signaling in response to WNT	IEA
R-HSA-372790	Signaling by GPCR	IEA
R-HSA-373080	Class B/2 (Secretin family receptors)	IEA
R-HSA-3858494	Beta-catenin independent WNT signaling	IEA
R-HSA-3858494	Beta-catenin independent WNT signaling	TAS
R-HSA-4086400	PCP/CE pathway	IEA
R-HSA-4086400	PCP/CE pathway	TAS
R-HSA-4608870	Asymmetric localization of PCP proteins	TAS
R-HSA-4641262	Disassembly of the destruction complex and recruitment of AXIN to the membrane	TAS
R-HSA-4641262	Disassembly of the destruction complex and recruitment of AXIN to the membrane	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 bis(4-hydroxyphenyl)sulfone] results in increased expression of FZD1 mRNA	28628672
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 A] results in increased expression of FZD1 mRNA	28628672
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 FZD1 mRNA	28628672
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in decreased expression of FZD1 mRNA	24810058
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in decreased expression of FZD1 mRNA	30723492
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether analog results in decreased expression of FZD1 mRNA	19095052
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of FZD1 mRNA	19114083
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of FZD1 mRNA	21346803
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FZD1 mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in increased expression of FZD1 mRNA	19150397
C496492	abrine	abrine results in decreased expression of FZD1 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in increased expression of FZD1 mRNA	29067470
D000225	Adenine	Adenine results in decreased expression of FZD1 mRNA	24211769
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of FZD1 mRNA	16483693
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of FZD1 mRNA	20458559
C015001	arsenite	arsenite results in increased methylation of FZD1 promoter	23974009
C015001	arsenite	[arsenite co-treated with Benzo(a)pyrene] results in decreased expression of FZD1 mRNA	15894712
C015001	arsenite	arsenite results in decreased expression of FZD1 mRNA	15894712
D001397	Azoxymethane	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of FZD1 mRNA	29950665
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of FZD1 mRNA	26238291
D001564	Benzo(a)pyrene	[arsenite co-treated with Benzo(a)pyrene] results in decreased expression of FZD1 mRNA	15894712
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of FZD1 mRNA	15894712
C543008	bis(4-hydroxyphenyl)sulfone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of FZD1 mRNA	28628672
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of FZD1 mRNA	30951980
C006780	bisphenol A	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of FZD1 mRNA	28628672
C006780	bisphenol A	bisphenol A affects the expression of FZD1 mRNA	25181051
C006780	bisphenol A	bisphenol A results in decreased expression of FZD1 mRNA	12075121
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 FZD1 mRNA	28628672
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of FZD1 mRNA	20478370
D002117	Calcitriol	Calcitriol results in increased expression of FZD1 mRNA	16002434
D002166	Camptothecin	Camptothecin results in decreased methylation of FZD1 gene	30720231
D004390	Chlorpyrifos	Chlorpyrifos affects the expression of FZD1 mRNA	18502319
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of and results in increased expression of FZD1	20938992
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of FZD1 gene	20938992
D002945	Cisplatin	Cisplatin results in decreased expression of FZD1 mRNA	24211769
D002945	Cisplatin	Cisplatin results in increased expression of FZD1 mRNA	27594783
D003078	Colchicine	Colchicine results in decreased expression of FZD1 mRNA	24211769
D003300	Copper	Copper results in increased expression of FZD1 mRNA	30556269
D003474	Curcumin	Curcumin results in decreased expression of FZD1 mRNA	15713895
D016572	Cyclosporine	Cyclosporine results in decreased expression of FZD1 mRNA	25562108
D000077209	Decitabine	Decitabine results in increased expression of FZD1 mRNA	27915011
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of FZD1 mRNA	28628672
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of FZD1 mRNA	28628672
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 FZD1 mRNA	28628672
D016264	Dextran Sulfate	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of FZD1 mRNA	29950665
D003976	Diazinon	Diazinon affects the expression of FZD1 mRNA	19130878
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of FZD1 mRNA	21266533
D004026	Dieldrin	Dieldrin results in increased expression of FZD1 mRNA	19130878
D004041	Dietary Fats	Dietary Fats results in increased expression of FZD1 mRNA	18042831
D013196	Dihydrotestosterone	Dihydrotestosterone results in increased expression of FZD1 mRNA	29581250
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FZD1 mRNA	27188386
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in increased expression of FZD1 mRNA	22079256
D004958	Estradiol	Estradiol results in increased expression of FZD1 mRNA	25210133
D000431	Ethanol	Ethanol results in increased expression of FZD1 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of FZD1 mRNA	12075121; 17351261;
D005013	Ethosuximide	Ethosuximide inhibits the reaction [APP protein modified form results in decreased expression of FZD1 mRNA]	26420483
D005013	Ethosuximide	Ethosuximide results in increased expression of FZD1 mRNA	26420483
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in decreased expression of FZD1 mRNA	24211769
D005047	Etoposide	Etoposide results in decreased expression of FZD1 mRNA	24211769
D017313	Fenretinide	Fenretinide results in decreased expression of FZD1 mRNA	16467112
D005485	Flutamide	Flutamide results in decreased expression of FZD1 mRNA	24136188
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of and results in increased expression of FZD1	20938992
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of FZD1 gene	20938992
C039281	furan	furan results in decreased expression of FZD1 mRNA	25539665
D019833	Genistein	Genistein results in decreased expression of FZD1 mRNA	12075121
D006918	Hydroxyurea	Hydroxyurea results in decreased expression of FZD1 mRNA	24211769
C492448	ICG 001	ICG 001 results in increased expression of FZD1 mRNA	26191083
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of FZD1 mRNA	28628672
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of FZD1 mRNA	28628672
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 FZD1 mRNA	28628672
C544151	jinfukang	jinfukang results in decreased expression of FZD1 mRNA	27392435
D008694	Methamphetamine	Methamphetamine results in increased expression of FZD1 mRNA	29802913
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of and results in increased expression of FZD1	20938992
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of FZD1 gene	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of FZD1 mRNA	23103053
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of FZD1 mRNA	28001369
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of FZD1 mRNA	24211769
D016685	Mitomycin	Mitomycin results in decreased expression of FZD1 mRNA	24211769
C058346	N-(4-methoxyphenyl)retinamide	N-(4-methoxyphenyl)retinamide results in decreased expression of FZD1 mRNA	16467112
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of FZD1 mRNA	25554681
C051752	nefazodone	nefazodone results in decreased expression of FZD1 mRNA	24136188
D009532	Nickel	Nickel results in decreased expression of FZD1 mRNA	25583101
D009532	Nickel	Nickel affects the expression of FZD1 mRNA	19130878
D009534	Niclosamide	Niclosamide affects the localization of FZD1 protein	19772353
D000073878	Palm Oil	Palm Oil results in increased expression of FZD1 mRNA	18042831
D010269	Paraquat	WNT1 protein inhibits the reaction [Paraquat results in decreased expression of FZD1 mRNA]	30171970
D010269	Paraquat	Paraquat results in decreased expression of FZD1 mRNA	30171970
D010269	Paraquat	Paraquat results in decreased expression of FZD1 protein	30171970
D010269	Paraquat	Paraquat results in decreased expression of FZD1 mRNA	26887261
D052638	Particulate Matter	Particulate Matter results in decreased expression of FZD1 mRNA	17450221
C086401	pentabromodiphenyl ether	pentabromodiphenyl ether analog results in decreased expression of FZD1 mRNA	19095052
C006253	pirinixic acid	pirinixic acid results in decreased expression of FZD1 mRNA	19162173
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in increased expression of FZD1 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in increased expression of FZD1 mRNA	22079256
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of FZD1 mRNA	24780913
D011441	Propylthiouracil	Propylthiouracil results in increased expression of FZD1 mRNA	25825206
C043680	ptaquiloside	[ptaquiloside co-treated with Sodium Selenite] results in decreased expression of FZD1 mRNA	23274088
D012402	Rotenone	Rotenone affects the expression of FZD1 mRNA	28374803
D012402	Rotenone	Rotenone results in decreased expression of FZD1 mRNA	19013527
C017947	sodium arsenite	sodium arsenite results in increased expression of FZD1 mRNA	28595984
D018038	Sodium Selenite	[ptaquiloside co-treated with Sodium Selenite] results in decreased expression of FZD1 mRNA	23274088
D018038	Sodium Selenite	Sodium Selenite results in decreased expression of FZD1 mRNA	23274088
D000077210	Sunitinib	Sunitinib results in increased expression of FZD1 mRNA	31533062
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of FZD1 mRNA	31299295
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in decreased expression of FZD1 mRNA	29432895
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in decreased expression of FZD1 mRNA	25172293
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of FZD1 mRNA	15667827
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of FZD1 mRNA	22298810
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of FZD1 mRNA	21215274
D013853	Thioacetamide	Thioacetamide results in decreased expression of FZD1 mRNA	23411599
C009495	titanium dioxide	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of FZD1 mRNA	29950665
D014212	Tretinoin	Tretinoin results in increased expression of FZD1 mRNA	23724009
D014260	Triclosan	Triclosan results in decreased expression of FZD1 mRNA	29596926
D014260	Triclosan	Triclosan results in decreased expression of FZD1 mRNA	30510588
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of FZD1 mRNA	26179874
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FZD1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in increased expression of FZD1 mRNA	23179753; 24383497; 26272509;
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of FZD1 gene	25560391
C029297	vinylidene chloride	vinylidene chloride results in decreased expression of FZD1 mRNA	26682919

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-1003	Cell membrane
KW-0217	Developmental protein
KW-1015	Disulfide bond
KW-0297	G-protein coupled receptor
KW-0325	Glycoprotein
KW-0472	Membrane
KW-0621	Polymorphism
KW-0675	Receptor
KW-1185	Reference proteome
KW-0732	Signal
KW-0807	Transducer
KW-0812	Transmembrane
KW-1133	Transmembrane helix
KW-0832	Ubl conjugation
KW-0879	Wnt signaling pathway

Interpro

InterPro ID	InterPro Term
IPR015526	Frizzled/SFRP
IPR000539	Frizzled/Smoothened_TM
IPR020067	Frizzled_dom
IPR036790	Frizzled_dom_sf
IPR026548	FZD1
IPR017981	GPCR_2-like

PROSITE

PROSITE ID	PROSITE Term
PS50038	FZ
PS50261	G_PROTEIN_RECEP_F2_4

Pfam

Pfam ID	Pfam Term
PF01534	Frizzled
PF01392	Fz

Gene: FZD1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

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