CleftGeneDB-Search

Gene: CHRD

Basic information

Tag	Content
Uniprot ID	Q9H2X0; O95254; Q2M1I8; Q6UW83; Q9H2D3; Q9H2W8; Q9H2W9; Q9P0Z2; Q9P0Z3; Q9P0Z4; Q9P0Z5;
Entrez ID	8646
Genbank protein ID	AAG35769.1; AAF70236.1; AAG35784.1; AAC69835.1; AAG35768.1; AAF70238.1; AAI12346.1; AAF70239.1; AAF70237.1; AAG35767.1; AAQ89285.1;
Genbank nucleotide ID	NM_001304473.1; NM_001304474.1; NM_001304472.1; NM_003741.3;
Ensembl protein ID	ENSP00000204604; ENSP00000408624; ENSP00000348930; ENSP00000334036; ENSP00000392794;
Ensembl nucleotide ID	ENSG00000090539
Gene name	Chordin
Gene symbol	CHRD
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Dorsalizing factor. Key developmental protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta family bone morphogenetic proteins (BMPs) and sequestering them in latent complexes (By similarity).
Sequence	MPSLPAPPAP LLLLGLLLLG SRPARGAGPE PPVLPIRSEK EPLPVRGAAG CTFGGKVYAL 60 DETWHPDLGE PFGVMRCVLC ACEAPQWGRR TRGPGRVSCK NIKPECPTPA CGQPRQLPGH 120 CCQTCPQERS SSERQPSGLS FEYPRDPEHR SYSDRGEPGA EERARGDGHT DFVALLTGPR 180 SQAVARARVS LLRSSLRFSI SYRRLDRPTR IRFSDSNGSV LFEHPAAPTQ DGLVCGVWRA 240 VPRLSLRLLR AEQLHVALVT LTHPSGEVWG PLIRHRALAA ETFSAILTLE GPPQQGVGGI 300 TLLTLSDTED SLHFLLLFRG LLEPRSGGLT QVPLRLQILH QGQLLRELQA NVSAQEPGFA 360 EVLPNLTVQE MDWLVLGELQ MALEWAGRPG LRISGHIAAR KSCDVLQSVL CGADALIPVQ 420 TGAAGSASLT LLGNGSLIYQ VQVVGTSSEV VAMTLETKPQ RRDQRTVLCH MAGLQPGGHT 480 AVGICPGLGA RGAHMLLQNE LFLNVGTKDF PDGELRGHVA ALPYCGHSAR HDTLPVPLAG 540 ALVLPPVKSQ AAGHAWLSLD THCHLHYEVL LAGLGGSEQG TVTAHLLGPP GTPGPRRLLK 600 GFYGSEAQGV VKDLEPELLR HLAKGMASLM ITTKGSPRGE LRGQVHIANQ CEVGGLRLEA 660 AGAEGVRALG APDTASAAPP VVPGLPALAP AKPGGPGRPR DPNTCFFEGQ QRPHGARWAP 720 NYDPLCSLCT CQRRTVICDP VVCPPPSCPH PVQAPDQCCP VCPEKQDVRD LPGLPRSRDP 780 GEGCYFDGDR SWRAAGTRWH PVVPPFGLIK CAVCTCKGGT GEVHCEKVQC PRLACAQPVR 840 VNPTDCCKQC PVGSGAHPQL GDPMQADGPR GCRFAGQWFP ESQSWHPSVP PFGEMSCITC 900 RCGAGVPHCE RDDCSLPLSC GSGKESRCCS RCTAHRRPAP ETRTDPELEK EAEGS 955

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	CHRD	102181631	A0A452E873		Capra hircus	Prediction	More>>
1:1 ortholog	CHRD	8646	Q9H2X0		Homo sapiens	Prediction	More>>
1:1 ortholog	Chrd	12667	Q9Z0E2	CPO	Mus musculus	Publication	More>>
1:1 ortholog	CHRD	460892	A0A2I3TA26		Pan troglodytes	Prediction	More>>
1:1 ortholog	Chrd	117275	A0A140TA94		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1251623870	p.Pro2Ser	missense variant	-	NC_000003.12:g.184380322C>T	gnomAD
rs750188901	p.Pro2Leu	missense variant	-	NC_000003.12:g.184380323C>T	ExAC,TOPMed,gnomAD
rs1412304749	p.Pro5Leu	missense variant	-	NC_000003.12:g.184380332C>T	gnomAD
rs1165639405	p.Ala6Val	missense variant	-	NC_000003.12:g.184380335C>T	gnomAD
rs1428139753	p.Pro7Leu	missense variant	-	NC_000003.12:g.184380338C>T	gnomAD
rs1387135600	p.Pro7Ser	missense variant	-	NC_000003.12:g.184380337C>T	gnomAD
rs1371335010	p.Pro8Ala	missense variant	-	NC_000003.12:g.184380340C>G	TOPMed,gnomAD
rs1410210437	p.Pro8Arg	missense variant	-	NC_000003.12:g.184380341C>G	gnomAD
rs970737369	p.Ala9Gly	missense variant	-	NC_000003.12:g.184380344C>G	TOPMed,gnomAD
rs758294135	p.Pro10Leu	missense variant	-	NC_000003.12:g.184380347C>T	ExAC,gnomAD
rs575089684	p.Leu11Met	missense variant	-	NC_000003.12:g.184380349C>A	1000Genomes,ExAC,gnomAD
rs1273471851	p.Leu12Arg	missense variant	-	NC_000003.12:g.184380353T>G	gnomAD
rs1483233327	p.Pro23Ser	missense variant	-	NC_000003.12:g.184380385C>T	gnomAD
rs1447743373	p.Ala24Val	missense variant	-	NC_000003.12:g.184380389C>T	gnomAD
rs1245099828	p.Ala24Ser	missense variant	-	NC_000003.12:g.184380388G>T	gnomAD
rs1245099828	p.Ala24Thr	missense variant	-	NC_000003.12:g.184380388G>A	gnomAD
rs1187929726	p.Arg25Ser	missense variant	-	NC_000003.12:g.184380391C>A	gnomAD
rs1391049211	p.Arg25His	missense variant	-	NC_000003.12:g.184380392G>A	gnomAD
rs1357181034	p.Gly26Asp	missense variant	-	NC_000003.12:g.184380395G>A	gnomAD
rs1172328383	p.Gly26Cys	missense variant	-	NC_000003.12:g.184380394G>T	gnomAD
rs1337326803	p.Ala27Ser	missense variant	-	NC_000003.12:g.184380397G>T	gnomAD
rs1337326803	p.Ala27Thr	missense variant	-	NC_000003.12:g.184380397G>A	gnomAD
rs920629607	p.Gly28Ser	missense variant	-	NC_000003.12:g.184380400G>A	TOPMed,gnomAD
rs1296166338	p.Gly28Asp	missense variant	-	NC_000003.12:g.184380401G>A	gnomAD
rs1211185805	p.Pro31Leu	missense variant	-	NC_000003.12:g.184380410C>T	gnomAD
rs983459137	p.Pro31Ser	missense variant	-	NC_000003.12:g.184380409C>T	TOPMed,gnomAD
rs1265542762	p.Pro32Leu	missense variant	-	NC_000003.12:g.184380413C>T	gnomAD
rs944515168	p.Val33Met	missense variant	-	NC_000003.12:g.184380415G>A	TOPMed,gnomAD
rs1424656336	p.Pro35His	missense variant	-	NC_000003.12:g.184380422C>A	gnomAD
rs1189689773	p.Pro35Ser	missense variant	-	NC_000003.12:g.184380421C>T	gnomAD
rs1039298712	p.Arg37Cys	missense variant	-	NC_000003.12:g.184380427C>T	TOPMed,gnomAD
rs1176839795	p.Arg37Leu	missense variant	-	NC_000003.12:g.184380428G>T	gnomAD
rs1319353718	p.Pro44Ser	missense variant	-	NC_000003.12:g.184380448C>T	TOPMed,gnomAD
rs867146249	p.Val45Ile	missense variant	-	NC_000003.12:g.184380451G>A	TOPMed,gnomAD
rs771072986	p.Arg46Gln	missense variant	-	NC_000003.12:g.184380455G>A	ExAC,gnomAD
rs545545389	p.Gly47Arg	missense variant	-	NC_000003.12:g.184380457G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1309514858	p.Ala48Glu	missense variant	-	NC_000003.12:g.184380461C>A	TOPMed
rs781192276	p.Gly50Asp	missense variant	-	NC_000003.12:g.184380692G>A	ExAC,gnomAD
rs781192276	p.Gly50Val	missense variant	-	NC_000003.12:g.184380692G>T	ExAC,gnomAD
rs1297364171	p.Gly50Arg	missense variant	-	NC_000003.12:g.184380466G>C	TOPMed
RCV000784960	p.Gly50Ter	frameshift	-	NC_000003.12:g.184380465del	ClinVar
rs757349750	p.Thr52Ile	missense variant	-	NC_000003.12:g.184380698C>T	ExAC,gnomAD
rs757349750	p.Thr52Asn	missense variant	-	NC_000003.12:g.184380698C>A	ExAC,gnomAD
rs779067519	p.Phe53Leu	missense variant	-	NC_000003.12:g.184380700T>C	ExAC,gnomAD
COSM1042064	p.Phe53Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184380700T>G	NCI-TCGA Cosmic
rs775787241	p.Gly54Asp	missense variant	-	NC_000003.12:g.184380704G>A	ExAC,gnomAD
rs772413432	p.Gly54Ser	missense variant	-	NC_000003.12:g.184380703G>A	ExAC,gnomAD
rs768990411	p.Tyr58His	missense variant	-	NC_000003.12:g.184380715T>C	ExAC,TOPMed,gnomAD
rs1056163964	p.Ala59Asp	missense variant	-	NC_000003.12:g.184380719C>A	TOPMed,gnomAD
rs1343986291	p.Leu60Phe	missense variant	-	NC_000003.12:g.184380723G>C	TOPMed,gnomAD
rs761370761	p.Leu60Ser	missense variant	-	NC_000003.12:g.184380722T>C	ExAC,gnomAD
rs1409635263	p.Glu62Asp	missense variant	-	NC_000003.12:g.184380729G>C	gnomAD
rs1368257272	p.Glu62Lys	missense variant	-	NC_000003.12:g.184380727G>A	gnomAD
rs769465205	p.Thr63Arg	missense variant	-	NC_000003.12:g.184380731C>G	ExAC,TOPMed,gnomAD
rs1338099994	p.Trp64Ter	stop gained	-	NC_000003.12:g.184380734G>A	TOPMed,gnomAD
rs1446422755	p.His65Tyr	missense variant	-	NC_000003.12:g.184380736C>T	gnomAD
rs1360243647	p.Pro66Thr	missense variant	-	NC_000003.12:g.184380739C>A	gnomAD
rs1248196449	p.Pro66Leu	missense variant	-	NC_000003.12:g.184380740C>T	gnomAD
rs766189404	p.Gly69Arg	missense variant	-	NC_000003.12:g.184380748G>A	ExAC,gnomAD
rs1439529820	p.Gly73Arg	missense variant	-	NC_000003.12:g.184380760G>A	gnomAD
NCI-TCGA novel	p.Val74Ala	missense variant	-	NC_000003.12:g.184380764T>C	NCI-TCGA
rs1236444255	p.Arg76Leu	missense variant	-	NC_000003.12:g.184380770G>T	TOPMed,gnomAD
rs1193635610	p.Arg76Ser	missense variant	-	NC_000003.12:g.184380769C>A	TOPMed
rs1236444255	p.Arg76His	missense variant	-	NC_000003.12:g.184380770G>A	TOPMed,gnomAD
rs1184862027	p.Leu79Pro	missense variant	-	NC_000003.12:g.184380779T>C	gnomAD
rs759391287	p.Cys80Tyr	missense variant	-	NC_000003.12:g.184380782G>A	ExAC,gnomAD
rs1317204165	p.Cys80Ter	stop gained	-	NC_000003.12:g.184380783C>A	gnomAD
rs767309911	p.Ala81Thr	missense variant	-	NC_000003.12:g.184380784G>A	ExAC,TOPMed,gnomAD
rs1168896135	p.Glu83Lys	missense variant	-	NC_000003.12:g.184380790G>A	gnomAD
NCI-TCGA novel	p.Glu83Gln	missense variant	-	NC_000003.12:g.184380790G>C	NCI-TCGA
rs1490361334	p.Ala84Val	missense variant	-	NC_000003.12:g.184380794C>T	TOPMed
rs1457647875	p.Pro85Ser	missense variant	-	NC_000003.12:g.184381235C>T	TOPMed,gnomAD
rs1422146350	p.Gln86Glu	missense variant	-	NC_000003.12:g.184381238C>G	TOPMed
rs767859402	p.Trp87Ter	stop gained	-	NC_000003.12:g.184381242G>A	ExAC,gnomAD
rs767859402	p.Trp87Leu	missense variant	-	NC_000003.12:g.184381242G>T	ExAC,gnomAD
rs1367614437	p.Trp87Gly	missense variant	-	NC_000003.12:g.184381241T>G	gnomAD
rs753056932	p.Gly88Ser	missense variant	-	NC_000003.12:g.184381244G>A	ExAC,gnomAD
rs778386345	p.Arg89Leu	missense variant	-	NC_000003.12:g.184381248G>T	ExAC,gnomAD
rs756571427	p.Arg89Gly	missense variant	-	NC_000003.12:g.184381247C>G	ExAC,TOPMed,gnomAD
rs749842503	p.Arg90Cys	missense variant	-	NC_000003.12:g.184381250C>T	ExAC,gnomAD
rs1477794814	p.Thr91Ser	missense variant	-	NC_000003.12:g.184381254C>G	TOPMed
NCI-TCGA novel	p.Gly93Ser	missense variant	-	NC_000003.12:g.184381259G>A	NCI-TCGA
rs34095724	p.Pro94Ser	missense variant	-	NC_000003.12:g.184381262C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1421376	p.Gly95Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184381266G>A	NCI-TCGA Cosmic
rs1361101870	p.Arg96Ser	missense variant	-	NC_000003.12:g.184381270G>T	gnomAD
rs1292056989	p.Arg96Lys	missense variant	-	NC_000003.12:g.184381269G>A	gnomAD
NCI-TCGA novel	p.Cys99Trp	missense variant	-	NC_000003.12:g.184381279C>G	NCI-TCGA
rs138217536	p.Pro104Leu	missense variant	-	NC_000003.12:g.184381293C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1421377	p.Pro104Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184381292C>G	NCI-TCGA Cosmic
rs771653468	p.Thr108Asn	missense variant	-	NC_000003.12:g.184381305C>A	ExAC,TOPMed,gnomAD
rs1265075233	p.Thr108Ser	missense variant	-	NC_000003.12:g.184381304A>T	TOPMed
rs771653468	p.Thr108Ile	missense variant	-	NC_000003.12:g.184381305C>T	ExAC,TOPMed,gnomAD
rs775144152	p.Pro109Leu	missense variant	-	NC_000003.12:g.184381308C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala110Val	missense variant	-	NC_000003.12:g.184381311C>T	NCI-TCGA
rs1184247852	p.Cys111Tyr	missense variant	-	NC_000003.12:g.184381314G>A	gnomAD
rs1387344413	p.Gly112Glu	missense variant	-	NC_000003.12:g.184381317G>A	gnomAD
rs1032783409	p.Pro114Arg	missense variant	-	NC_000003.12:g.184381323C>G	TOPMed,gnomAD
rs1032783409	p.Pro114Leu	missense variant	-	NC_000003.12:g.184381323C>T	TOPMed,gnomAD
rs1222898902	p.Arg115His	missense variant	-	NC_000003.12:g.184381326G>A	gnomAD
rs1283303932	p.Arg115Gly	missense variant	-	NC_000003.12:g.184381325C>G	TOPMed
NCI-TCGA novel	p.Gln116Arg	missense variant	-	NC_000003.12:g.184381329A>G	NCI-TCGA
rs201984321	p.Pro118Gln	missense variant	-	NC_000003.12:g.184381335C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201984321	p.Pro118Leu	missense variant	-	NC_000003.12:g.184381335C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1462481609	p.Gly119Glu	missense variant	-	NC_000003.12:g.184381338G>A	TOPMed,gnomAD
rs201020400	p.His120Asn	missense variant	-	NC_000003.12:g.184381340C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1315078759	p.Cys121Tyr	missense variant	-	NC_000003.12:g.184381344G>A	gnomAD
rs1295386994	p.Gln123His	missense variant	-	NC_000003.12:g.184381351G>C	gnomAD
rs1225723523	p.Gln123Pro	missense variant	-	NC_000003.12:g.184381350A>C	TOPMed,gnomAD
rs1225723523	p.Gln123Leu	missense variant	-	NC_000003.12:g.184381350A>T	TOPMed,gnomAD
rs1254798449	p.Cys125Tyr	missense variant	-	NC_000003.12:g.184381356G>A	gnomAD
rs766368325	p.Cys125Arg	missense variant	-	NC_000003.12:g.184381355T>C	ExAC,gnomAD
rs572984824	p.Arg129Leu	missense variant	-	NC_000003.12:g.184381499G>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg129His	missense variant	-	NC_000003.12:g.184381499G>A	NCI-TCGA
rs1268376877	p.Ser130Asn	missense variant	-	NC_000003.12:g.184381502G>A	gnomAD
rs749287992	p.Ser131Arg	missense variant	-	NC_000003.12:g.184381504A>C	ExAC,gnomAD
rs35087408	p.Glu133Lys	missense variant	-	NC_000003.12:g.184381510G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776748999	p.Arg134Gln	missense variant	-	NC_000003.12:g.184381514G>A	ExAC,TOPMed,gnomAD
rs768871806	p.Arg134Trp	missense variant	-	NC_000003.12:g.184381513C>T	ExAC,gnomAD
rs980833271	p.Pro136Arg	missense variant	-	NC_000003.12:g.184381520C>G	TOPMed,gnomAD
rs980833271	p.Pro136Gln	missense variant	-	NC_000003.12:g.184381520C>A	TOPMed,gnomAD
rs1402148027	p.Pro136Ser	missense variant	-	NC_000003.12:g.184381519C>T	gnomAD
rs980833271	p.Pro136Leu	missense variant	-	NC_000003.12:g.184381520C>T	TOPMed,gnomAD
rs373792812	p.Ser137Asn	missense variant	-	NC_000003.12:g.184381523G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765566662	p.Ser137Arg	missense variant	-	NC_000003.12:g.184381524C>A	ExAC,gnomAD
rs1334564555	p.Gly138Cys	missense variant	-	NC_000003.12:g.184381525G>T	TOPMed,gnomAD
rs1334564555	p.Gly138Ser	missense variant	-	NC_000003.12:g.184381525G>A	TOPMed,gnomAD
rs1246050210	p.Leu139Arg	missense variant	-	NC_000003.12:g.184381529T>G	TOPMed,gnomAD
rs750912862	p.Ser140Pro	missense variant	-	NC_000003.12:g.184381531T>C	ExAC,TOPMed,gnomAD
rs750912862	p.Ser140Ala	missense variant	-	NC_000003.12:g.184381531T>G	ExAC,TOPMed,gnomAD
rs763515621	p.Phe141Leu	missense variant	-	NC_000003.12:g.184381536C>A	ExAC,gnomAD
rs766879394	p.Pro144Leu	missense variant	-	NC_000003.12:g.184381544C>T	ExAC,TOPMed,gnomAD
rs376748609	p.Arg145Trp	missense variant	-	NC_000003.12:g.184381546C>T	ESP,ExAC,TOPMed,gnomAD
rs1180988366	p.Pro147Gln	missense variant	-	NC_000003.12:g.184381553C>A	gnomAD
rs754508907	p.Pro147Ala	missense variant	-	NC_000003.12:g.184381552C>G	ExAC,gnomAD
rs1180988366	p.Pro147Leu	missense variant	-	NC_000003.12:g.184381553C>T	gnomAD
NCI-TCGA novel	p.Glu148GlyPheSerTerUnk	frameshift	-	NC_000003.12:g.184381550_184381551insC	NCI-TCGA
rs1243051499	p.Ser151Arg	missense variant	-	NC_000003.12:g.184381564A>C	TOPMed
rs777956202	p.Ser153Gly	missense variant	-	NC_000003.12:g.184381570A>G	TOPMed
rs1384470175	p.Ser153Arg	missense variant	-	NC_000003.12:g.184381572C>G	TOPMed
rs777487132	p.Asp154Gly	missense variant	-	NC_000003.12:g.184381574A>G	ExAC,gnomAD
rs1444844554	p.Asp154Asn	missense variant	-	NC_000003.12:g.184381573G>A	TOPMed,gnomAD
rs192063183	p.Arg155Ser	missense variant	-	NC_000003.12:g.184381576C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs192063183	p.Arg155Gly	missense variant	-	NC_000003.12:g.184381576C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1010020967	p.Gly156Trp	missense variant	-	NC_000003.12:g.184381579G>T	TOPMed,gnomAD
rs1010020967	p.Gly156Arg	missense variant	-	NC_000003.12:g.184381579G>A	TOPMed,gnomAD
rs1010020967	p.Gly156Arg	missense variant	-	NC_000003.12:g.184381579G>C	TOPMed,gnomAD
rs779015930	p.Glu157Lys	missense variant	-	NC_000003.12:g.184381582G>A	ExAC,TOPMed,gnomAD
rs373789484	p.Pro158Ala	missense variant	-	NC_000003.12:g.184381585C>G	ESP,ExAC,TOPMed,gnomAD
rs776887601	p.Pro158Leu	missense variant	-	NC_000003.12:g.184381586C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro158Ser	missense variant	-	NC_000003.12:g.184381585C>T	NCI-TCGA
rs748373553	p.Gly159Asp	missense variant	-	NC_000003.12:g.184381589G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu161Lys	missense variant	-	NC_000003.12:g.184381594G>A	NCI-TCGA
rs1194951406	p.Arg163Gln	missense variant	-	NC_000003.12:g.184381601G>A	gnomAD
rs1273670983	p.Ala164Val	missense variant	-	NC_000003.12:g.184381604C>T	gnomAD
rs1241953931	p.Arg165His	missense variant	-	NC_000003.12:g.184381607G>A	gnomAD
rs1201286138	p.Arg165Cys	missense variant	-	NC_000003.12:g.184381606C>T	gnomAD
rs149561137	p.Gly166Asp	missense variant	-	NC_000003.12:g.184381610G>A	ESP,ExAC,TOPMed,gnomAD
rs1444936224	p.Gly166Cys	missense variant	-	NC_000003.12:g.184381609G>T	gnomAD
rs149561137	p.Gly166Val	missense variant	-	NC_000003.12:g.184381610G>T	ESP,ExAC,TOPMed,gnomAD
rs1370917340	p.Asp167Asn	missense variant	-	NC_000003.12:g.184381612G>A	gnomAD
rs766825882	p.Gly168Ala	missense variant	-	NC_000003.12:g.184381616G>C	ExAC,gnomAD
rs759057662	p.Thr170Lys	missense variant	-	NC_000003.12:g.184381622C>A	ExAC,gnomAD
rs774872526	p.Thr170Ala	missense variant	-	NC_000003.12:g.184381621A>G	ExAC,gnomAD
rs766987083	p.Asp171Tyr	missense variant	-	NC_000003.12:g.184381624G>T	ExAC,TOPMed,gnomAD
rs766987083	p.Asp171Asn	missense variant	-	NC_000003.12:g.184381624G>A	ExAC,TOPMed,gnomAD
rs781191897	p.Asp171Val	missense variant	-	NC_000003.12:g.184381716A>T	ExAC,gnomAD
rs766987083	p.Asp171His	missense variant	-	NC_000003.12:g.184381624G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe172Leu	missense variant	-	NC_000003.12:g.184381720C>G	NCI-TCGA
rs1342127387	p.Leu176Val	missense variant	-	NC_000003.12:g.184381730C>G	TOPMed,gnomAD
rs147255516	p.Arg186Gln	missense variant	-	NC_000003.12:g.184381761G>A	ESP,ExAC,TOPMed
rs1316493652	p.Arg186Gly	missense variant	-	NC_000003.12:g.184381760C>G	TOPMed
NCI-TCGA novel	p.Arg186Ter	stop gained	-	NC_000003.12:g.184381760C>T	NCI-TCGA
rs1024839113	p.Ala187Pro	missense variant	-	NC_000003.12:g.184381763G>C	TOPMed,gnomAD
rs1024839113	p.Ala187Ser	missense variant	-	NC_000003.12:g.184381763G>T	TOPMed,gnomAD
rs749615885	p.Arg188Gln	missense variant	-	NC_000003.12:g.184381767G>A	ExAC,gnomAD
rs948134779	p.Arg188Gly	missense variant	-	NC_000003.12:g.184381766C>G	TOPMed,gnomAD
rs1270267161	p.Val189Ala	missense variant	-	NC_000003.12:g.184381770T>C	TOPMed,gnomAD
rs1199106028	p.Val189Ile	missense variant	-	NC_000003.12:g.184381769G>A	gnomAD
rs527889467	p.Ser190Leu	missense variant	-	NC_000003.12:g.184381773C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs767049939	p.Arg193Pro	missense variant	-	NC_000003.12:g.184381782G>C	ExAC,gnomAD
rs760021605	p.Arg193Ser	missense variant	-	NC_000003.12:g.184381781C>A	ExAC,TOPMed,gnomAD
rs767049939	p.Arg193His	missense variant	-	NC_000003.12:g.184381782G>A	ExAC,gnomAD
rs763799901	p.Leu196Phe	missense variant	-	NC_000003.12:g.184381790C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu196Ile	missense variant	-	NC_000003.12:g.184381790C>A	NCI-TCGA
rs202036042	p.Arg197Cys	missense variant	-	NC_000003.12:g.184381793C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg197His	missense variant	-	NC_000003.12:g.184381794G>A	NCI-TCGA
rs1432298729	p.Arg197Leu	missense variant	-	NC_000003.12:g.184381794G>T	TOPMed,gnomAD
rs1388438430	p.Ile200Val	missense variant	-	NC_000003.12:g.184381802A>G	TOPMed,gnomAD
rs765178293	p.Tyr202Cys	missense variant	-	NC_000003.12:g.184381809A>G	ExAC,TOPMed,gnomAD
rs765178293	p.Tyr202Ser	missense variant	-	NC_000003.12:g.184381809A>C	ExAC,TOPMed,gnomAD
rs908278237	p.Arg203Trp	missense variant	-	NC_000003.12:g.184381811A>T	TOPMed
rs370466131	p.Asp206Tyr	missense variant	-	NC_000003.12:g.184381937G>T	ESP,ExAC,TOPMed,gnomAD
rs539389142	p.Arg207Ser	missense variant	-	NC_000003.12:g.184381940C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs777889535	p.Arg207Leu	missense variant	-	NC_000003.12:g.184381941G>T	ExAC,gnomAD
rs777889535	p.Arg207His	missense variant	-	NC_000003.12:g.184381941G>A	ExAC,gnomAD
rs539389142	p.Arg207Gly	missense variant	-	NC_000003.12:g.184381940C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs777889535	p.Arg207Pro	missense variant	-	NC_000003.12:g.184381941G>C	ExAC,gnomAD
NCI-TCGA novel	p.Arg207Cys	missense variant	-	NC_000003.12:g.184381940C>T	NCI-TCGA
rs757403903	p.Pro208Ser	missense variant	-	NC_000003.12:g.184381943C>T	ExAC,gnomAD
rs1210118589	p.Arg210Lys	missense variant	-	NC_000003.12:g.184381950G>A	TOPMed
rs138912825	p.Arg212Gly	missense variant	-	NC_000003.12:g.184381955C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746178513	p.Arg212His	missense variant	-	NC_000003.12:g.184381956G>A	ExAC,gnomAD
rs138912825	p.Arg212Cys	missense variant	-	NC_000003.12:g.184381955C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1308895	p.Ser214Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.184381962C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser214Leu	missense variant	-	NC_000003.12:g.184381962C>T	NCI-TCGA
NCI-TCGA novel	p.Ser216Tyr	missense variant	-	NC_000003.12:g.184381968C>A	NCI-TCGA
rs772526782	p.Asn217Lys	missense variant	-	NC_000003.12:g.184381972T>G	ExAC,gnomAD
rs1052458821	p.Asn217Ser	missense variant	-	NC_000003.12:g.184381971A>G	TOPMed
rs747607991	p.Val220Ile	missense variant	-	NC_000003.12:g.184381979G>A	ExAC
rs1403251912	p.Phe222Leu	missense variant	-	NC_000003.12:g.184381987T>A	gnomAD
COSM1042065	p.Pro225His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184381995C>A	NCI-TCGA Cosmic
rs1353299517	p.Ala226Val	missense variant	-	NC_000003.12:g.184381998C>T	TOPMed
rs776211729	p.Pro228Leu	missense variant	-	NC_000003.12:g.184382004C>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr229ProPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.184382001C>-	NCI-TCGA
rs761418019	p.Asp231Gly	missense variant	-	NC_000003.12:g.184382013A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp231Glu	missense variant	-	NC_000003.12:g.184382014T>A	NCI-TCGA
rs753347321	p.Gly232Ser	missense variant	-	NC_000003.12:g.184382015G>A	ExAC,gnomAD
rs1266713936	p.Gly236Ala	missense variant	-	NC_000003.12:g.184382396G>C	gnomAD
rs767394438	p.Val237Leu	missense variant	-	NC_000003.12:g.184382398G>T	ExAC,TOPMed,gnomAD
COSM1042066	p.Trp238Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.184382403G>A	NCI-TCGA Cosmic
rs1191336636	p.Arg239Trp	missense variant	-	NC_000003.12:g.184382404C>T	gnomAD
rs1234755179	p.Arg239Gln	missense variant	-	NC_000003.12:g.184382405G>A	TOPMed
rs1398392437	p.Val241Ala	missense variant	-	NC_000003.12:g.184382411T>C	gnomAD
COSM1042067	p.Pro242His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184382414C>A	NCI-TCGA Cosmic
rs147593063	p.Arg243Pro	missense variant	-	NC_000003.12:g.184382417G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147593063	p.Arg243Leu	missense variant	-	NC_000003.12:g.184382417G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147593063	p.Arg243Gln	missense variant	-	NC_000003.12:g.184382417G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761857445	p.Arg243Trp	missense variant	-	NC_000003.12:g.184382416C>T	ExAC,gnomAD
rs761857445	p.Arg243Gly	missense variant	-	NC_000003.12:g.184382416C>G	ExAC,gnomAD
rs766519819	p.Ser245Thr	missense variant	-	NC_000003.12:g.184382422T>A	ExAC,TOPMed,gnomAD
COSM4899942	p.Ser245Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184382423C>T	NCI-TCGA Cosmic
rs147436706	p.Arg247Pro	missense variant	-	NC_000003.12:g.184382429G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs186990063	p.Arg247Gly	missense variant	-	NC_000003.12:g.184382428C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs186990063	p.Arg247Trp	missense variant	-	NC_000003.12:g.184382428C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs147436706	p.Arg247Gln	missense variant	-	NC_000003.12:g.184382429G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu249Ile	missense variant	-	NC_000003.12:g.184382434C>A	NCI-TCGA
rs777411613	p.Ala251Val	missense variant	-	NC_000003.12:g.184382441C>T	ExAC,TOPMed,gnomAD
rs777411613	p.Ala251Glu	missense variant	-	NC_000003.12:g.184382441C>A	ExAC,TOPMed,gnomAD
rs1356064214	p.Leu254Pro	missense variant	-	NC_000003.12:g.184382450T>C	gnomAD
rs774016296	p.His255Tyr	missense variant	-	NC_000003.12:g.184382452C>T	ExAC
COSM3590782	p.Ala257Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184382458G>A	NCI-TCGA Cosmic
rs1218569991	p.Leu258Arg	missense variant	-	NC_000003.12:g.184382462T>G	gnomAD
COSM1042068	p.Val259Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184382465T>C	NCI-TCGA Cosmic
rs1490182810	p.Thr260Ile	missense variant	-	NC_000003.12:g.184382468C>T	gnomAD
rs745630288	p.Leu261Val	missense variant	-	NC_000003.12:g.184382470C>G	ExAC,TOPMed,gnomAD
rs745630288	p.Leu261Phe	missense variant	-	NC_000003.12:g.184382470C>T	ExAC,TOPMed,gnomAD
rs1441784185	p.Thr262Ile	missense variant	-	NC_000003.12:g.184382474C>T	TOPMed
rs537984257	p.Pro264Leu	missense variant	-	NC_000003.12:g.184382480C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1468179733	p.Glu267Gln	missense variant	-	NC_000003.12:g.184382488G>C	gnomAD
rs763939807	p.Val268Phe	missense variant	-	NC_000003.12:g.184382491G>T	ExAC,gnomAD
rs1441129215	p.Trp269Ter	stop gained	-	NC_000003.12:g.184382496G>A	gnomAD
rs1162140853	p.Pro271Leu	missense variant	-	NC_000003.12:g.184382501C>T	gnomAD
rs142618898	p.Arg274Trp	missense variant	-	NC_000003.12:g.184382509C>T	ESP,ExAC,TOPMed,gnomAD
rs142618898	p.Arg274Gly	missense variant	-	NC_000003.12:g.184382509C>G	ESP,ExAC,TOPMed,gnomAD
rs751873659	p.Arg274Gln	missense variant	-	NC_000003.12:g.184382510G>A	ExAC,TOPMed,gnomAD
rs556293982	p.Arg276Trp	missense variant	-	NC_000003.12:g.184382515C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs577771873	p.Arg276Pro	missense variant	-	NC_000003.12:g.184382516G>C	1000Genomes,ExAC,gnomAD
rs577771873	p.Arg276Gln	missense variant	-	NC_000003.12:g.184382516G>A	1000Genomes,ExAC,gnomAD
rs1379477596	p.Ala277Asp	missense variant	-	NC_000003.12:g.184382519C>A	gnomAD
rs1355445151	p.Ala277Pro	missense variant	-	NC_000003.12:g.184382518G>C	TOPMed
rs745959400	p.Thr282Asn	missense variant	-	NC_000003.12:g.184382637C>A	ExAC,gnomAD
rs547793649	p.Ser284Gly	missense variant	-	NC_000003.12:g.184382642A>G	1000Genomes,ExAC,gnomAD
rs1278802269	p.Ala285Ser	missense variant	-	NC_000003.12:g.184382645G>T	gnomAD
rs1342243004	p.Ala285Gly	missense variant	-	NC_000003.12:g.184382646C>G	gnomAD
rs1254875553	p.Ile286Thr	missense variant	-	NC_000003.12:g.184382649T>C	gnomAD
rs775607714	p.Ile286Val	missense variant	-	NC_000003.12:g.184382648A>G	ExAC,TOPMed,gnomAD
rs761071202	p.Leu287Pro	missense variant	-	NC_000003.12:g.184382652T>C	ExAC,gnomAD
rs1451857103	p.Thr288Ile	missense variant	-	NC_000003.12:g.184382655C>T	TOPMed
rs764422897	p.Leu289Pro	missense variant	-	NC_000003.12:g.184382658T>C	ExAC
NCI-TCGA novel	p.Glu290Gln	missense variant	-	NC_000003.12:g.184382660G>C	NCI-TCGA
rs901103484	p.Gly291Cys	missense variant	-	NC_000003.12:g.184382663G>T	TOPMed
rs1281618131	p.Pro292Ser	missense variant	-	NC_000003.12:g.184382666C>T	gnomAD
rs1259263385	p.Pro293Arg	missense variant	-	NC_000003.12:g.184382670C>G	TOPMed
COSM1693892	p.Pro293Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184382669C>T	NCI-TCGA Cosmic
rs1266031405	p.Gly296Val	missense variant	-	NC_000003.12:g.184382679G>T	gnomAD
rs1194774757	p.Gly296Ser	missense variant	-	NC_000003.12:g.184382678G>A	gnomAD
NCI-TCGA novel	p.Val297Leu	missense variant	-	NC_000003.12:g.184382681G>C	NCI-TCGA
rs375530942	p.Val297Ile	missense variant	-	NC_000003.12:g.184382681G>A	ESP,ExAC,TOPMed,gnomAD
rs375530942	p.Val297Leu	missense variant	-	NC_000003.12:g.184382681G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly298Glu	missense variant	-	NC_000003.12:g.184382685G>A	NCI-TCGA
NCI-TCGA novel	p.Gly299AlaPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.184382684G>-	NCI-TCGA
rs1234182174	p.Thr301Ala	missense variant	-	NC_000003.12:g.184382693A>G	TOPMed
COSM730204	p.Leu302Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184382696C>A	NCI-TCGA Cosmic
rs1321881115	p.Leu303Phe	missense variant	-	NC_000003.12:g.184382699C>T	TOPMed
NCI-TCGA novel	p.Leu303Ile	missense variant	-	NC_000003.12:g.184382699C>A	NCI-TCGA
rs754791096	p.Leu303Pro	missense variant	-	NC_000003.12:g.184382700T>C	ExAC,gnomAD
rs139538414	p.Thr304Ile	missense variant	-	NC_000003.12:g.184382703C>T	ESP,ExAC
rs368929634	p.Leu305Val	missense variant	-	NC_000003.12:g.184382705C>G	ESP,ExAC,gnomAD
rs1384830210	p.Thr308Ala	missense variant	-	NC_000003.12:g.184382714A>G	TOPMed
rs373031272	p.Thr308Ile	missense variant	-	NC_000003.12:g.184382715C>T	ESP,ExAC,TOPMed,gnomAD
rs1467128875	p.Asp310Ala	missense variant	-	NC_000003.12:g.184382721A>C	TOPMed
COSM1042069	p.His313Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184382729C>T	NCI-TCGA Cosmic
rs747261211	p.Leu317Phe	missense variant	-	NC_000003.12:g.184382741C>T	ExAC,gnomAD
rs768926833	p.Leu317Pro	missense variant	-	NC_000003.12:g.184382742T>C	ExAC,gnomAD
rs747261211	p.Leu317Val	missense variant	-	NC_000003.12:g.184382741C>G	ExAC,gnomAD
rs762183304	p.Arg319Leu	missense variant	-	NC_000003.12:g.184382748G>T	ExAC,TOPMed,gnomAD
rs762183304	p.Arg319Gln	missense variant	-	NC_000003.12:g.184382748G>A	ExAC,TOPMed,gnomAD
COSM3331418	p.Glu323Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184382759G>A	NCI-TCGA Cosmic
rs370155085	p.Pro324Ser	missense variant	-	NC_000003.12:g.184382762C>T	ESP,ExAC,TOPMed,gnomAD
rs368023006	p.Gly327Arg	missense variant	-	NC_000003.12:g.184382771G>C	ESP,ExAC,TOPMed,gnomAD
rs368023006	p.Gly327Arg	missense variant	-	NC_000003.12:g.184382771G>A	ESP,ExAC,TOPMed,gnomAD
rs748477109	p.Gly328Glu	missense variant	-	NC_000003.12:g.184382856G>A	ExAC,gnomAD
rs765865447	p.Gly328Arg	missense variant	-	NC_000003.12:g.184382774G>C	ExAC,gnomAD
rs12629962	p.Leu329Val	missense variant	-	NC_000003.12:g.184382858C>G	ExAC,gnomAD
rs12629962	p.Leu329Ile	missense variant	-	NC_000003.12:g.184382858C>A	ExAC,gnomAD
rs771476659	p.Gln331His	missense variant	-	NC_000003.12:g.184382866G>C	ExAC,TOPMed,gnomAD
rs1369890185	p.Val332Phe	missense variant	-	NC_000003.12:g.184382867G>T	TOPMed
COSM3590784	p.Pro333Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184382870C>T	NCI-TCGA Cosmic
COSM6164106	p.Leu334Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184382875G>C	NCI-TCGA Cosmic
rs1397998409	p.Ile338Ser	missense variant	-	NC_000003.12:g.184382886T>G	TOPMed
rs759112929	p.Leu339Ile	missense variant	-	NC_000003.12:g.184382888C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly342Arg	missense variant	-	NC_000003.12:g.184382897G>A	NCI-TCGA
rs752438053	p.Leu344Ile	missense variant	-	NC_000003.12:g.184382903C>A	ExAC,gnomAD
rs1170384847	p.Leu345Val	missense variant	-	NC_000003.12:g.184382906C>G	TOPMed
rs549967594	p.Arg346Gln	missense variant	-	NC_000003.12:g.184382910G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1380063832	p.Arg346Ter	stop gained	-	NC_000003.12:g.184382909C>T	TOPMed,gnomAD
rs1180920375	p.Glu347Lys	missense variant	-	NC_000003.12:g.184382912G>A	TOPMed
COSM1042070	p.Leu348His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184382916T>A	NCI-TCGA Cosmic
rs757202426	p.Asn351Lys	missense variant	-	NC_000003.12:g.184382926T>A	ExAC,gnomAD
rs753689268	p.Asn351Ser	missense variant	-	NC_000003.12:g.184382925A>G	ExAC,gnomAD
rs778931730	p.Val352Ile	missense variant	-	NC_000003.12:g.184382927G>A	ExAC,gnomAD
rs1422746627	p.Gln355Arg	missense variant	-	NC_000003.12:g.184382937A>G	gnomAD
rs763851446	p.Glu356Asp	missense variant	-	NC_000003.12:g.184383018A>C	ExAC,gnomAD
rs753637262	p.Pro357Leu	missense variant	-	NC_000003.12:g.184383020C>T	ExAC,gnomAD
COSM730203	p.Ala360Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184383028G>T	NCI-TCGA Cosmic
COSM4451174	p.Asn365Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184383044A>G	NCI-TCGA Cosmic
rs781314356	p.Gln369Arg	missense variant	-	NC_000003.12:g.184383056A>G	ExAC,gnomAD
rs752780835	p.Glu370Ter	stop gained	-	NC_000003.12:g.184383058G>T	ExAC,gnomAD
COSM446103	p.Glu370Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184383058G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu370Asp	missense variant	-	NC_000003.12:g.184383060G>T	NCI-TCGA
rs1398344110	p.Met371Ile	missense variant	-	NC_000003.12:g.184383063G>A	TOPMed,gnomAD
rs146674509	p.Asp372Asn	missense variant	-	NC_000003.12:g.184383064G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146674509	p.Asp372His	missense variant	-	NC_000003.12:g.184383064G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1360481690	p.Trp373Ter	stop gained	-	NC_000003.12:g.184383069G>A	gnomAD
rs777996256	p.Val375Gly	missense variant	-	NC_000003.12:g.184383074T>G	ExAC,gnomAD
rs1361813076	p.Gly377Ala	missense variant	-	NC_000003.12:g.184383080G>C	TOPMed,gnomAD
rs1361813076	p.Gly377Glu	missense variant	-	NC_000003.12:g.184383080G>A	TOPMed,gnomAD
rs749616265	p.Gly377Arg	missense variant	-	NC_000003.12:g.184383079G>A	ExAC,TOPMed,gnomAD
rs1402383397	p.Glu378Lys	missense variant	-	NC_000003.12:g.184383082G>A	TOPMed,gnomAD
rs757681498	p.Glu378Gly	missense variant	-	NC_000003.12:g.184383083A>G	ExAC
rs1402383397	p.Glu378Gln	missense variant	-	NC_000003.12:g.184383082G>C	TOPMed,gnomAD
rs779266864	p.Gln380His	missense variant	-	NC_000003.12:g.184383090G>C	ExAC,gnomAD
rs1366999149	p.Leu383Pro	missense variant	-	NC_000003.12:g.184383098T>C	gnomAD
rs1303708992	p.Glu384Lys	missense variant	-	NC_000003.12:g.184383100G>A	TOPMed,gnomAD
rs1378480594	p.Trp385Arg	missense variant	-	NC_000003.12:g.184383103T>C	gnomAD
rs1315328760	p.Trp385Ter	stop gained	-	NC_000003.12:g.184383104G>A	gnomAD
rs1235763129	p.Trp385Ter	stop gained	-	NC_000003.12:g.184383105G>A	TOPMed
rs374861567	p.Ala386Gly	missense variant	-	NC_000003.12:g.184383107C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374861567	p.Ala386Val	missense variant	-	NC_000003.12:g.184383107C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs34147749	p.Gly387Ser	missense variant	-	NC_000003.12:g.184383109G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1214800672	p.Arg388Lys	missense variant	-	NC_000003.12:g.184383113G>A	TOPMed
rs1244844100	p.Gly390Arg	missense variant	-	NC_000003.12:g.184383118G>A	gnomAD
rs1487884566	p.Gly390Glu	missense variant	-	NC_000003.12:g.184383119G>A	TOPMed,gnomAD
rs543627744	p.Arg392Ser	missense variant	-	NC_000003.12:g.184383124C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs543627744	p.Arg392Cys	missense variant	-	NC_000003.12:g.184383124C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201032668	p.Arg392His	missense variant	-	NC_000003.12:g.184383125G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs773015914	p.Ser394Arg	missense variant	-	NC_000003.12:g.184383132T>G	ExAC,TOPMed,gnomAD
rs1381332340	p.Gly395Glu	missense variant	-	NC_000003.12:g.184383134G>A	gnomAD
rs143869009	p.Ile397Phe	missense variant	-	NC_000003.12:g.184383139A>T	ESP,ExAC,TOPMed,gnomAD
rs143869009	p.Ile397Leu	missense variant	-	NC_000003.12:g.184383139A>C	ESP,ExAC,TOPMed,gnomAD
rs1437344348	p.Ala398Ser	missense variant	-	NC_000003.12:g.184383142G>T	gnomAD
rs1375043020	p.Lys401Asn	missense variant	-	NC_000003.12:g.184383153G>C	TOPMed,gnomAD
rs372119331	p.Ser402Thr	missense variant	-	NC_000003.12:g.184383155G>C	ESP,ExAC,TOPMed,gnomAD
rs372119331	p.Ser402Asn	missense variant	-	NC_000003.12:g.184383155G>A	ESP,ExAC,TOPMed,gnomAD
rs1354158730	p.Asp404Asn	missense variant	-	NC_000003.12:g.184383160G>A	gnomAD
rs1287699865	p.Val405Ile	missense variant	-	NC_000003.12:g.184383163G>A	gnomAD
NCI-TCGA novel	p.Gln407Leu	missense variant	-	NC_000003.12:g.184383318A>T	NCI-TCGA
rs1217526546	p.Gln407Lys	missense variant	-	NC_000003.12:g.184383317C>A	gnomAD
rs781574421	p.Ser408Asn	missense variant	-	NC_000003.12:g.184383321G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser408Ile	missense variant	-	NC_000003.12:g.184383321G>T	NCI-TCGA
NCI-TCGA novel	p.Ser408CysPheSerTerUnk	frameshift	-	NC_000003.12:g.184383318_184383319AA>-	NCI-TCGA
rs752212094	p.Leu410Ile	missense variant	-	NC_000003.12:g.184383326C>A	ExAC,gnomAD
rs752212094	p.Leu410Phe	missense variant	-	NC_000003.12:g.184383326C>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp414Asn	missense variant	-	NC_000003.12:g.184383338G>A	NCI-TCGA
NCI-TCGA novel	p.Asp414His	missense variant	-	NC_000003.12:g.184383338G>C	NCI-TCGA
rs770711370	p.Thr421Met	missense variant	-	NC_000003.12:g.184383360C>T	ExAC,gnomAD
rs778615801	p.Ala423Ser	missense variant	-	NC_000003.12:g.184383365G>T	ExAC,TOPMed,gnomAD
rs201415609	p.Ala423Gly	missense variant	-	NC_000003.12:g.184383366C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs778615801	p.Ala423Pro	missense variant	-	NC_000003.12:g.184383365G>C	ExAC,TOPMed,gnomAD
rs1477043058	p.Gly425Ser	missense variant	-	NC_000003.12:g.184383371G>A	TOPMed,gnomAD
rs1172244440	p.Ala427Gly	missense variant	-	NC_000003.12:g.184383378C>G	TOPMed,gnomAD
rs1304687509	p.Ala427Thr	missense variant	-	NC_000003.12:g.184383377G>A	TOPMed
rs989095135	p.Ser428Arg	missense variant	-	NC_000003.12:g.184383382C>G	TOPMed,gnomAD
rs915508670	p.Thr430Met	missense variant	-	NC_000003.12:g.184383387C>T	TOPMed,gnomAD
rs915508670	p.Thr430Arg	missense variant	-	NC_000003.12:g.184383387C>G	TOPMed,gnomAD
rs1215757816	p.Gly433Arg	missense variant	-	NC_000003.12:g.184383395G>A	gnomAD
rs769821756	p.Asn434Ile	missense variant	-	NC_000003.12:g.184383399A>T	ExAC,gnomAD
rs769821756	p.Asn434Ser	missense variant	-	NC_000003.12:g.184383399A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly435Arg	missense variant	-	NC_000003.12:g.184383401G>C	NCI-TCGA
rs906658508	p.Ser436Tyr	missense variant	-	NC_000003.12:g.184383405C>A	TOPMed
rs1278699888	p.Tyr439His	missense variant	-	NC_000003.12:g.184383413T>C	gnomAD
NCI-TCGA novel	p.Gln440His	missense variant	-	NC_000003.12:g.184383418G>T	NCI-TCGA
rs767828888	p.Val441Leu	missense variant	-	NC_000003.12:g.184383523G>C	ExAC,gnomAD
rs776064875	p.Thr446Ala	missense variant	-	NC_000003.12:g.184383538A>G	ExAC,gnomAD
rs973190059	p.Val450Leu	missense variant	-	NC_000003.12:g.184383550G>T	TOPMed
rs761024701	p.Val451Ala	missense variant	-	NC_000003.12:g.184383554T>C	ExAC,gnomAD
rs753299715	p.Met453Ile	missense variant	-	NC_000003.12:g.184383561G>A	ExAC,TOPMed
rs753299715	p.Met453Ile	missense variant	-	NC_000003.12:g.184383561G>C	ExAC,TOPMed
rs764678749	p.Met453Val	missense variant	-	NC_000003.12:g.184383559A>G	ExAC,TOPMed,gnomAD
rs1268131949	p.Met453Arg	missense variant	-	NC_000003.12:g.184383560T>G	gnomAD
rs1015500603	p.Thr454Pro	missense variant	-	NC_000003.12:g.184383562A>C	gnomAD
rs1015500603	p.Thr454Ala	missense variant	-	NC_000003.12:g.184383562A>G	gnomAD
rs756797400	p.Thr454Ile	missense variant	-	NC_000003.12:g.184383563C>T	ExAC,gnomAD
rs758207218	p.Thr457Ala	missense variant	-	NC_000003.12:g.184383571A>G	ExAC,gnomAD
rs145871696	p.Thr457Ser	missense variant	-	NC_000003.12:g.184383572C>G	ESP,ExAC,TOPMed,gnomAD
rs145871696	p.Thr457Ile	missense variant	-	NC_000003.12:g.184383572C>T	ESP,ExAC,TOPMed,gnomAD
RCV000207411	p.Thr457Ser	missense variant	-	NC_000003.12:g.184383572C>G	ClinVar
rs1162519675	p.Lys458Asn	missense variant	-	NC_000003.12:g.184383576G>C	gnomAD
rs1456314749	p.Lys458Gln	missense variant	-	NC_000003.12:g.184383574A>C	gnomAD
NCI-TCGA novel	p.Gln460Ter	stop gained	-	NC_000003.12:g.184383580C>T	NCI-TCGA
rs754820692	p.Arg461Gln	missense variant	-	NC_000003.12:g.184383584G>A	ExAC,TOPMed,gnomAD
rs746833026	p.Arg461Trp	missense variant	-	NC_000003.12:g.184383583C>T	ExAC,TOPMed,gnomAD
rs537327887	p.Arg465His	missense variant	-	NC_000003.12:g.184383596G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs371620797	p.Arg465Cys	missense variant	-	NC_000003.12:g.184383595C>T	ESP,TOPMed,gnomAD
rs537327887	p.Arg465Leu	missense variant	-	NC_000003.12:g.184383596G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1244717043	p.Cys469Tyr	missense variant	-	NC_000003.12:g.184383608G>A	gnomAD
rs1244717043	p.Cys469Phe	missense variant	-	NC_000003.12:g.184383608G>T	gnomAD
rs1266481362	p.His470Tyr	missense variant	-	NC_000003.12:g.184383610C>T	gnomAD
rs1337087171	p.Met471Ile	missense variant	-	NC_000003.12:g.184383615G>A	gnomAD
rs989124574	p.Gly473Glu	missense variant	-	NC_000003.12:g.184383620G>A	TOPMed
rs746147827	p.Leu474Pro	missense variant	-	NC_000003.12:g.184383623T>C	ExAC,gnomAD
rs772347309	p.Gln475Ter	stop gained	-	NC_000003.12:g.184383625C>T	ExAC,gnomAD
rs148262081	p.Pro476Ser	missense variant	-	NC_000003.12:g.184383628C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1252418026	p.Pro476Leu	missense variant	-	NC_000003.12:g.184383629C>T	gnomAD
rs1295172047	p.Gly477Arg	missense variant	-	NC_000003.12:g.184383631G>A	TOPMed
rs978785218	p.Gly478Val	missense variant	-	NC_000003.12:g.184383635G>T	TOPMed
NCI-TCGA novel	p.His479Tyr	missense variant	-	NC_000003.12:g.184383637C>T	NCI-TCGA
rs148110430	p.Thr480Met	missense variant	-	NC_000003.12:g.184383641C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148110430	p.Thr480Lys	missense variant	-	NC_000003.12:g.184383641C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1298049438	p.Ala481Val	missense variant	-	NC_000003.12:g.184384538C>T	gnomAD
NCI-TCGA novel	p.Ala481Thr	missense variant	-	NC_000003.12:g.184384537G>A	NCI-TCGA
rs951413156	p.Val482Met	missense variant	-	NC_000003.12:g.184384540G>A	TOPMed
COSM6097145	p.Gly483Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184384544G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly483Asp	missense variant	-	NC_000003.12:g.184384544G>A	NCI-TCGA
NCI-TCGA novel	p.Gly483Ser	missense variant	-	NC_000003.12:g.184384543G>A	NCI-TCGA
rs1299526982	p.Cys485Tyr	missense variant	-	NC_000003.12:g.184384550G>A	gnomAD
rs146324922	p.Pro486Leu	missense variant	-	NC_000003.12:g.184384553C>T	ESP,ExAC,TOPMed,gnomAD
rs756063129	p.Gly489Ser	missense variant	-	NC_000003.12:g.184384561G>A	ExAC,gnomAD
rs1214367058	p.Gly489Asp	missense variant	-	NC_000003.12:g.184384562G>A	TOPMed,gnomAD
rs756063129	p.Gly489Cys	missense variant	-	NC_000003.12:g.184384561G>T	ExAC,gnomAD
COSM3590786	p.Ala490Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184384565C>T	NCI-TCGA Cosmic
rs750433253	p.Arg491Gln	missense variant	-	NC_000003.12:g.184384568G>A	ExAC,TOPMed,gnomAD
rs1387599540	p.Arg491Ter	stop gained	-	NC_000003.12:g.184384567C>T	gnomAD
rs780123376	p.Ala493Val	missense variant	-	NC_000003.12:g.184384574C>T	ExAC,gnomAD
rs1418207623	p.Gln498Glu	missense variant	-	NC_000003.12:g.184384588C>G	TOPMed,gnomAD
rs1158595403	p.Asn499Ser	missense variant	-	NC_000003.12:g.184384592A>G	gnomAD
rs1473960737	p.Glu500Gln	missense variant	-	NC_000003.12:g.184384594G>C	TOPMed
COSM4115791	p.Leu501Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184384597C>T	NCI-TCGA Cosmic
rs748534317	p.Phe502Ser	missense variant	-	NC_000003.12:g.184384601T>C	ExAC,gnomAD
rs762349111	p.Asn504His	missense variant	-	NC_000003.12:g.184384606A>C	ExAC,gnomAD
rs773870774	p.Val505Met	missense variant	-	NC_000003.12:g.184384609G>A	ExAC,gnomAD
rs1285286664	p.Gly506Asp	missense variant	-	NC_000003.12:g.184384613G>A	gnomAD
rs1217401511	p.Asp509Asn	missense variant	-	NC_000003.12:g.184384621G>A	gnomAD
COSM5088310	p.Asp509Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184384623C>A	NCI-TCGA Cosmic
rs767294717	p.Pro511Ala	missense variant	-	NC_000003.12:g.184384627C>G	ExAC,gnomAD
rs1487833549	p.Pro511Arg	missense variant	-	NC_000003.12:g.184384628C>G	gnomAD
NCI-TCGA novel	p.Asp512Tyr	missense variant	-	NC_000003.12:g.184384630G>T	NCI-TCGA
rs760580943	p.Gly513Arg	missense variant	-	NC_000003.12:g.184384633G>A	ExAC,gnomAD
rs1438278905	p.Glu514Lys	missense variant	-	NC_000003.12:g.184384636G>A	gnomAD
rs1178377192	p.Leu515Ile	missense variant	-	NC_000003.12:g.184384639C>A	gnomAD
rs763909455	p.Arg516Gln	missense variant	-	NC_000003.12:g.184384643G>A	ExAC,TOPMed,gnomAD
rs753868589	p.Gly517Glu	missense variant	-	NC_000003.12:g.184384646G>A	ExAC,TOPMed,gnomAD
rs766411915	p.Val519Met	missense variant	-	NC_000003.12:g.184384651G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala520Asp	missense variant	-	NC_000003.12:g.184384655C>A	NCI-TCGA
rs1445395482	p.Ala521Thr	missense variant	-	NC_000003.12:g.184384657G>A	gnomAD
rs755143908	p.Pro523Thr	missense variant	-	NC_000003.12:g.184384663C>A	ExAC,gnomAD
rs1444359270	p.Tyr524Ser	missense variant	-	NC_000003.12:g.184384667A>C	gnomAD
rs201629871	p.Tyr524His	missense variant	-	NC_000003.12:g.184384666T>C	ExAC,TOPMed
rs748479275	p.Cys525Gly	missense variant	-	NC_000003.12:g.184384669T>G	ExAC,gnomAD
COSM5162852	p.Cys525Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184384669T>C	NCI-TCGA Cosmic
rs756521621	p.Gly526Trp	missense variant	-	NC_000003.12:g.184384672G>T	ExAC,gnomAD
rs749872823	p.Ala529Thr	missense variant	-	NC_000003.12:g.184384681G>A	ExAC,TOPMed,gnomAD
rs749872823	p.Ala529Pro	missense variant	-	NC_000003.12:g.184384681G>C	ExAC,TOPMed,gnomAD
rs150401834	p.Ala529Val	missense variant	-	NC_000003.12:g.184384682C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749872823	p.Ala529Ser	missense variant	-	NC_000003.12:g.184384681G>T	ExAC,TOPMed,gnomAD
rs773857037	p.Arg530Cys	missense variant	-	NC_000003.12:g.184384684C>T	ExAC,gnomAD
rs745397410	p.Arg530His	missense variant	-	NC_000003.12:g.184384685G>A	ExAC,TOPMed,gnomAD
rs745397410	p.Arg530Leu	missense variant	-	NC_000003.12:g.184384685G>T	ExAC,TOPMed,gnomAD
rs1233830051	p.His531Leu	missense variant	-	NC_000003.12:g.184384688A>T	gnomAD
rs1233830051	p.His531Arg	missense variant	-	NC_000003.12:g.184384688A>G	gnomAD
rs149507891	p.Thr533Lys	missense variant	-	NC_000003.12:g.184385018C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149507891	p.Thr533Met	missense variant	-	NC_000003.12:g.184385018C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138882380	p.Val536Leu	missense variant	-	NC_000003.12:g.184385026G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138882380	p.Val536Met	missense variant	-	NC_000003.12:g.184385026G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771761101	p.Leu538Pro	missense variant	-	NC_000003.12:g.184385033T>C	ExAC,gnomAD
rs1176833823	p.Ala539Thr	missense variant	-	NC_000003.12:g.184385035G>A	gnomAD
rs148633075	p.Ala541Gly	missense variant	-	NC_000003.12:g.184385042C>G	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Leu542Val	missense variant	-	NC_000003.12:g.184385044C>G	NCI-TCGA
rs746591350	p.Val543Ala	missense variant	-	NC_000003.12:g.184385048T>C	ExAC,TOPMed,gnomAD
rs1337816736	p.Leu544Pro	missense variant	-	NC_000003.12:g.184385051T>C	gnomAD
rs200631006	p.Pro545Ser	missense variant	-	NC_000003.12:g.184385053C>T	ExAC,gnomAD
rs1341000228	p.Pro545His	missense variant	-	NC_000003.12:g.184385054C>A	gnomAD
rs761543822	p.Pro546His	missense variant	-	NC_000003.12:g.184385057C>A	ExAC,TOPMed,gnomAD
rs746296766	p.Pro546Ala	missense variant	-	NC_000003.12:g.184385056C>G	gnomAD
rs761543822	p.Pro546Leu	missense variant	-	NC_000003.12:g.184385057C>T	ExAC,TOPMed,gnomAD
rs746296766	p.Pro546Ser	missense variant	-	NC_000003.12:g.184385056C>T	gnomAD
COSM6039480	p.Pro546LeuPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.184385053C>-	NCI-TCGA Cosmic
rs1488030307	p.Ser549Asn	missense variant	-	NC_000003.12:g.184385066G>A	TOPMed,gnomAD
rs1233415690	p.Ala551Val	missense variant	-	NC_000003.12:g.184385072C>T	TOPMed
rs1163120685	p.Gly553Trp	missense variant	-	NC_000003.12:g.184385077G>T	gnomAD
COSM6097143	p.Gly553Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184385078G>T	NCI-TCGA Cosmic
rs1244119292	p.His554Tyr	missense variant	-	NC_000003.12:g.184385080C>T	gnomAD
rs376150409	p.Ala555Ser	missense variant	-	NC_000003.12:g.184385083G>T	ESP,ExAC,TOPMed,gnomAD
rs376150409	p.Ala555Thr	missense variant	-	NC_000003.12:g.184385083G>A	ESP,ExAC,TOPMed,gnomAD
rs1447741434	p.Asp560Asn	missense variant	-	NC_000003.12:g.184385098G>A	TOPMed
rs1394255373	p.Asp560Val	missense variant	-	NC_000003.12:g.184385099A>T	gnomAD
rs752778668	p.Thr561Ala	missense variant	-	NC_000003.12:g.184385101A>G	ExAC,gnomAD
COSM5156395	p.Cys563Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184385107T>G	NCI-TCGA Cosmic
rs1175464957	p.His564Leu	missense variant	-	NC_000003.12:g.184385111A>T	gnomAD
COSM5162854	p.Leu565Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184385113C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr567Cys	missense variant	-	NC_000003.12:g.184385120A>G	NCI-TCGA
rs372747842	p.Ala572Ser	missense variant	-	NC_000003.12:g.184385134G>T	ESP,TOPMed
COSM1421379	p.Leu574Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184385140C>A	NCI-TCGA Cosmic
rs754194740	p.Gly575Cys	missense variant	-	NC_000003.12:g.184385143G>T	ExAC,gnomAD
rs146218712	p.Gly576Ser	missense variant	-	NC_000003.12:g.184385146G>A	ESP,ExAC,TOPMed,gnomAD
rs751035404	p.Ser577Leu	missense variant	-	NC_000003.12:g.184385150C>T	ExAC,TOPMed,gnomAD
rs779544143	p.Ser577Pro	missense variant	-	NC_000003.12:g.184385149T>C	ExAC,gnomAD
rs758975291	p.Gln579Lys	missense variant	-	NC_000003.12:g.184385155C>A	ExAC,gnomAD
rs1463141891	p.Gln579Pro	missense variant	-	NC_000003.12:g.184385156A>C	TOPMed
rs779649069	p.Thr581Ala	missense variant	-	NC_000003.12:g.184385161A>G	ExAC,gnomAD
rs1286442852	p.Val582Ile	missense variant	-	NC_000003.12:g.184385164G>A	gnomAD
rs1286442852	p.Val582Leu	missense variant	-	NC_000003.12:g.184385164G>C	gnomAD
COSM5156397	p.Thr583Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184385167A>G	NCI-TCGA Cosmic
COSM279890	p.Ala584Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184385171C>T	NCI-TCGA Cosmic
rs1415940407	p.His585Tyr	missense variant	-	NC_000003.12:g.184385173C>T	TOPMed
rs1193275945	p.His585Arg	missense variant	-	NC_000003.12:g.184385174A>G	gnomAD
NCI-TCGA novel	p.Leu586Phe	missense variant	-	NC_000003.12:g.184385176C>T	NCI-TCGA
rs1195233255	p.Pro589Arg	missense variant	-	NC_000003.12:g.184385186C>G	gnomAD
rs780745807	p.Pro589Ala	missense variant	-	NC_000003.12:g.184385185C>G	ExAC,gnomAD
rs747953177	p.Gly591Arg	missense variant	-	NC_000003.12:g.184385191G>A	ExAC,gnomAD
rs199856196	p.Thr592Met	missense variant	-	NC_000003.12:g.184385195C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs762811411	p.Pro595Ser	missense variant	-	NC_000003.12:g.184385203C>T	ExAC,gnomAD
rs142103641	p.Arg596Gln	missense variant	-	NC_000003.12:g.184385207G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs267599715	p.Arg596Trp	missense variant	-	NC_000003.12:g.184385206C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1335484009	p.Arg597Gln	missense variant	-	NC_000003.12:g.184385210G>A	TOPMed,gnomAD
rs760703245	p.Arg597Trp	missense variant	-	NC_000003.12:g.184385209C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg597Leu	missense variant	-	NC_000003.12:g.184385210G>T	NCI-TCGA
rs201765271	p.Lys600Glu	missense variant	-	NC_000003.12:g.184385218A>G	1000Genomes,ExAC,gnomAD
rs569396672	p.Gly601Glu	missense variant	-	NC_000003.12:g.184385222G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs569396672	p.Gly601Ala	missense variant	-	NC_000003.12:g.184385222G>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM3774774	p.Ser605Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184385234C>T	NCI-TCGA Cosmic
rs750826630	p.Glu606Gln	missense variant	-	NC_000003.12:g.184385236G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu606Asp	missense variant	-	NC_000003.12:g.184385238G>T	NCI-TCGA
rs777435775	p.Gln608Pro	missense variant	-	NC_000003.12:g.184386050A>C	ExAC,gnomAD
rs34052076	p.Gln608His	missense variant	-	NC_000003.12:g.184386051G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1194813503	p.Gly609Asp	missense variant	-	NC_000003.12:g.184386053G>A	TOPMed,gnomAD
rs1308291648	p.Val610Ala	missense variant	-	NC_000003.12:g.184386056T>C	gnomAD
rs1295192955	p.Val610Met	missense variant	-	NC_000003.12:g.184386055G>A	gnomAD
rs778900913	p.Val611Met	missense variant	-	NC_000003.12:g.184386058G>A	ExAC,gnomAD
rs745863714	p.Asp613Ala	missense variant	-	NC_000003.12:g.184386065A>C	ExAC,TOPMed,gnomAD
COSM479799	p.Leu614Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184386068T>G	NCI-TCGA Cosmic
rs1423293740	p.Glu615Ter	stop gained	-	NC_000003.12:g.184386070G>T	gnomAD
rs772056992	p.Pro616Leu	missense variant	-	NC_000003.12:g.184386074C>T	ExAC,TOPMed,gnomAD
rs748267517	p.Leu618Met	missense variant	-	NC_000003.12:g.184386079C>A	ExAC,gnomAD
rs773616640	p.Arg620Trp	missense variant	-	NC_000003.12:g.184386085C>T	ExAC,TOPMed,gnomAD
rs376244825	p.Arg620Gln	missense variant	-	NC_000003.12:g.184386086G>A	ESP,ExAC,TOPMed,gnomAD
rs766916662	p.His621Tyr	missense variant	-	NC_000003.12:g.184386088C>T	ExAC,gnomAD
rs759903035	p.Gly625Asp	missense variant	-	NC_000003.12:g.184386101G>A	ExAC,TOPMed,gnomAD
rs759903035	p.Gly625Val	missense variant	-	NC_000003.12:g.184386101G>T	ExAC,TOPMed,gnomAD
rs200407417	p.Met626Val	missense variant	-	NC_000003.12:g.184386103A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1414529177	p.Met626Thr	missense variant	-	NC_000003.12:g.184386104T>C	TOPMed,gnomAD
rs200407417	p.Met626Leu	missense variant	-	NC_000003.12:g.184386103A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs763717398	p.Ala627Thr	missense variant	-	NC_000003.12:g.184386106G>A	ExAC,TOPMed,gnomAD
rs753551642	p.Ala627Val	missense variant	-	NC_000003.12:g.184386107C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala627Ser	missense variant	-	NC_000003.12:g.184386106G>T	NCI-TCGA
COSM3915480	p.Ser628Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184386110C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser628ProPheSerTerUnk	frameshift	-	NC_000003.12:g.184386107C>-	NCI-TCGA
rs16858780	p.Met630Leu	missense variant	-	NC_000003.12:g.184386115A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs745692893	p.Ile631Val	missense variant	-	NC_000003.12:g.184386118A>G	ExAC,gnomAD
rs758226724	p.Thr632Ile	missense variant	-	NC_000003.12:g.184386122C>T	ExAC,gnomAD
rs758226724	p.Thr632Ser	missense variant	-	NC_000003.12:g.184386122C>G	ExAC,gnomAD
rs201020244	p.Thr633Ile	missense variant	-	NC_000003.12:g.184386125C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1358857281	p.Gly635Asp	missense variant	-	NC_000003.12:g.184386131G>A	TOPMed
rs368003114	p.Ser636Arg	missense variant	-	NC_000003.12:g.184386135C>G	ESP,ExAC,TOPMed,gnomAD
rs749454000	p.Gly639Glu	missense variant	-	NC_000003.12:g.184386143G>A	ExAC,TOPMed,gnomAD
rs1250706317	p.Glu640Val	missense variant	-	NC_000003.12:g.184386146A>T	TOPMed,gnomAD
rs771198668	p.Arg642Gln	missense variant	-	NC_000003.12:g.184386152G>A	ExAC,TOPMed,gnomAD
rs1454136648	p.Arg642Ter	stop gained	-	NC_000003.12:g.184386151C>T	gnomAD
rs1399474409	p.Gly643Ala	missense variant	-	NC_000003.12:g.184386155G>C	gnomAD
rs1397511453	p.Gly643Arg	missense variant	-	NC_000003.12:g.184386154G>A	gnomAD
rs1216587793	p.Gln644Arg	missense variant	-	NC_000003.12:g.184386158A>G	gnomAD
rs1333456667	p.His646Leu	missense variant	-	NC_000003.12:g.184386496A>T	gnomAD
COSM1421383	p.His646Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184386495C>A	NCI-TCGA Cosmic
rs1274622968	p.Ile647Lys	missense variant	-	NC_000003.12:g.184386499T>A	gnomAD
rs754971176	p.Ile647Leu	missense variant	-	NC_000003.12:g.184386498A>T	ExAC,gnomAD
rs1420992692	p.Gln650Lys	missense variant	-	NC_000003.12:g.184386507C>A	gnomAD
rs557843970	p.Cys651Tyr	missense variant	-	NC_000003.12:g.184386511G>A	1000Genomes
rs777941782	p.Cys651Arg	missense variant	-	NC_000003.12:g.184386510T>C	ExAC,gnomAD
rs749402951	p.Glu652Lys	missense variant	-	NC_000003.12:g.184386513G>A	ExAC,TOPMed,gnomAD
rs771020442	p.Gly654Ser	missense variant	-	NC_000003.12:g.184386519G>A	ExAC,gnomAD
rs377545047	p.Gly655Ter	stop gained	-	NC_000003.12:g.184386522G>T	TOPMed,gnomAD
rs377545047	p.Gly655Arg	missense variant	-	NC_000003.12:g.184386522G>A	TOPMed,gnomAD
rs772547355	p.Leu656Pro	missense variant	-	NC_000003.12:g.184386526T>C	ExAC,gnomAD
rs1167407707	p.Arg657His	missense variant	-	NC_000003.12:g.184386529G>A	gnomAD
rs1475546928	p.Arg657Cys	missense variant	-	NC_000003.12:g.184386528C>T	TOPMed,gnomAD
rs1167407707	p.Arg657Leu	missense variant	-	NC_000003.12:g.184386529G>T	gnomAD
rs1417593952	p.Leu658Met	missense variant	-	NC_000003.12:g.184386531C>A	gnomAD
rs572817129	p.Ala660Val	missense variant	-	NC_000003.12:g.184386538C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs561646793	p.Gly662Arg	missense variant	-	NC_000003.12:g.184386543G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1310946023	p.Gly662Ala	missense variant	-	NC_000003.12:g.184386544G>C	TOPMed,gnomAD
rs561646793	p.Gly662Arg	missense variant	-	NC_000003.12:g.184386543G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1310946023	p.Gly662Glu	missense variant	-	NC_000003.12:g.184386544G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu664Asp	missense variant	-	NC_000003.12:g.184386551G>T	NCI-TCGA
rs762650946	p.Glu664Lys	missense variant	-	NC_000003.12:g.184386549G>A	ExAC,gnomAD
rs1337027571	p.Val666Leu	missense variant	-	NC_000003.12:g.184386555G>T	gnomAD
rs766129822	p.Val666Gly	missense variant	-	NC_000003.12:g.184386556T>G	ExAC,TOPMed,gnomAD
rs1337027571	p.Val666Met	missense variant	-	NC_000003.12:g.184386555G>A	gnomAD
rs766129822	p.Val666Ala	missense variant	-	NC_000003.12:g.184386556T>C	ExAC,TOPMed,gnomAD
rs754915047	p.Arg667Leu	missense variant	-	NC_000003.12:g.184386559G>T	ExAC,TOPMed,gnomAD
rs754915047	p.Arg667Pro	missense variant	-	NC_000003.12:g.184386559G>C	ExAC,TOPMed,gnomAD
rs902240288	p.Arg667Trp	missense variant	-	NC_000003.12:g.184386558C>T	TOPMed,gnomAD
rs754915047	p.Arg667Gln	missense variant	-	NC_000003.12:g.184386559G>A	ExAC,TOPMed,gnomAD
rs767595082	p.Ala668Val	missense variant	-	NC_000003.12:g.184386562C>T	ExAC,TOPMed,gnomAD
rs767595082	p.Ala668Glu	missense variant	-	NC_000003.12:g.184386562C>A	ExAC,TOPMed,gnomAD
rs1257380824	p.Ala668Thr	missense variant	-	NC_000003.12:g.184386561G>A	gnomAD
rs753939232	p.Leu669Met	missense variant	-	NC_000003.12:g.184386564C>A	ExAC,gnomAD
rs757409267	p.Gly670Glu	missense variant	-	NC_000003.12:g.184386568G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly670Trp	missense variant	-	NC_000003.12:g.184386567G>T	NCI-TCGA
rs1171735237	p.Ala671Thr	missense variant	-	NC_000003.12:g.184386570G>A	gnomAD
rs1374752444	p.Ala671Asp	missense variant	-	NC_000003.12:g.184386571C>A	gnomAD
rs746170996	p.Pro672Leu	missense variant	-	NC_000003.12:g.184386574C>T	ExAC,TOPMed,gnomAD
rs778992422	p.Pro672Ser	missense variant	-	NC_000003.12:g.184386573C>T	ExAC,TOPMed,gnomAD
rs1007513919	p.Asp673His	missense variant	-	NC_000003.12:g.184386576G>C	TOPMed,gnomAD
rs1367831359	p.Thr674Ile	missense variant	-	NC_000003.12:g.184386580C>T	gnomAD
rs780342230	p.Ala675Val	missense variant	-	NC_000003.12:g.184386583C>T	ExAC,TOPMed,gnomAD
rs769116532	p.Ala678Val	missense variant	-	NC_000003.12:g.184386592C>T	ExAC,TOPMed,gnomAD
rs769116532	p.Ala678Glu	missense variant	-	NC_000003.12:g.184386592C>A	ExAC,TOPMed,gnomAD
rs199810958	p.Pro679Gln	missense variant	-	NC_000003.12:g.184386595C>A	ESP,ExAC,TOPMed,gnomAD
rs199810958	p.Pro679Leu	missense variant	-	NC_000003.12:g.184386595C>T	ESP,ExAC,TOPMed,gnomAD
rs199806371	p.Pro679Thr	missense variant	-	NC_000003.12:g.184386594C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1244033201	p.Pro680Ser	missense variant	-	NC_000003.12:g.184386597C>T	gnomAD
rs762607770	p.Val682Ala	missense variant	-	NC_000003.12:g.184386604T>C	ExAC,TOPMed,gnomAD
rs371051902	p.Val682Met	missense variant	-	NC_000003.12:g.184386603G>A	gnomAD
rs563125930	p.Pro683Ser	missense variant	-	NC_000003.12:g.184386606C>T	1000Genomes,ExAC,gnomAD
rs1454659833	p.Gly684Ser	missense variant	-	NC_000003.12:g.184386609G>A	TOPMed,gnomAD
rs749962652	p.Gly684Val	missense variant	-	NC_000003.12:g.184386610G>T	TOPMed,gnomAD
rs1391127622	p.Pro686Ser	missense variant	-	NC_000003.12:g.184386615C>T	gnomAD
rs1382169691	p.Pro686Leu	missense variant	-	NC_000003.12:g.184386616C>T	gnomAD
rs759444394	p.Ala687Val	missense variant	-	NC_000003.12:g.184386619C>T	ExAC,gnomAD
rs774248268	p.Ala687Ser	missense variant	-	NC_000003.12:g.184386618G>T	ExAC,TOPMed,gnomAD
rs372203346	p.Ala689Gly	missense variant	-	NC_000003.12:g.184386625C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372203346	p.Ala689Val	missense variant	-	NC_000003.12:g.184386625C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758602549	p.Ala691Thr	missense variant	-	NC_000003.12:g.184386630G>A	ExAC,TOPMed,gnomAD
rs780291031	p.Ala691Gly	missense variant	-	NC_000003.12:g.184386631C>G	ExAC,TOPMed,gnomAD
rs747350106	p.Pro693Ser	missense variant	-	NC_000003.12:g.184386636C>T	ExAC,gnomAD
rs755391438	p.Gly694Arg	missense variant	-	NC_000003.12:g.184386639G>C	ExAC,gnomAD
rs755391438	p.Gly694Ser	missense variant	-	NC_000003.12:g.184386639G>A	ExAC,gnomAD
rs1467309193	p.Gly694Asp	missense variant	-	NC_000003.12:g.184386640G>A	gnomAD
rs979023175	p.Gly695Val	missense variant	-	NC_000003.12:g.184386643G>T	gnomAD
rs1213227869	p.Gly695Cys	missense variant	-	NC_000003.12:g.184386642G>T	TOPMed,gnomAD
rs1213227869	p.Gly695Ser	missense variant	-	NC_000003.12:g.184386642G>A	TOPMed,gnomAD
rs781661018	p.Pro696Ser	missense variant	-	NC_000003.12:g.184386645C>T	ExAC,gnomAD
rs1384738935	p.Gly697Ala	missense variant	-	NC_000003.12:g.184386649G>C	TOPMed
rs1361960633	p.Arg698Trp	missense variant	-	NC_000003.12:g.184386651C>T	TOPMed,gnomAD
rs201859048	p.Arg698Gln	missense variant	-	NC_000003.12:g.184386652G>A	ExAC,TOPMed,gnomAD
rs201859048	p.Arg698Leu	missense variant	-	NC_000003.12:g.184386652G>T	ExAC,TOPMed,gnomAD
rs748780200	p.Arg700Gln	missense variant	-	NC_000003.12:g.184386658G>A	ExAC,TOPMed,gnomAD
COSM5471702	p.Arg700Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.184386657C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp701Tyr	missense variant	-	NC_000003.12:g.184386660G>T	NCI-TCGA
rs1308669126	p.Pro702Thr	missense variant	-	NC_000003.12:g.184386663C>A	gnomAD
NCI-TCGA novel	p.Pro702Leu	missense variant	-	NC_000003.12:g.184386664C>T	NCI-TCGA
rs1018741540	p.Phe706Leu	missense variant	-	NC_000003.12:g.184386675T>C	TOPMed,gnomAD
rs1239943558	p.Phe706Leu	missense variant	-	NC_000003.12:g.184386677C>G	gnomAD
rs1196905774	p.Phe707Leu	missense variant	-	NC_000003.12:g.184386678T>C	TOPMed
rs1182618909	p.Glu708Gly	missense variant	-	NC_000003.12:g.184386682A>G	TOPMed
rs1332694953	p.Glu708Lys	missense variant	-	NC_000003.12:g.184386681G>A	TOPMed,gnomAD
COSM3590794	p.Gly709Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184386685G>A	NCI-TCGA Cosmic
rs1274001228	p.Arg712Cys	missense variant	-	NC_000003.12:g.184386693C>T	TOPMed,gnomAD
rs201062199	p.Arg712His	missense variant	-	NC_000003.12:g.184386694G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1248400758	p.Pro713Thr	missense variant	-	NC_000003.12:g.184386696C>A	TOPMed,gnomAD
rs760607038	p.Gly715Arg	missense variant	-	NC_000003.12:g.184386702G>A	ExAC,TOPMed,gnomAD
rs139430266	p.Arg717His	missense variant	-	NC_000003.12:g.184386709G>A	ESP,ExAC,gnomAD
rs1253356762	p.Arg717Cys	missense variant	-	NC_000003.12:g.184386708C>T	gnomAD
rs139430266	p.Arg717Leu	missense variant	-	NC_000003.12:g.184386709G>T	ESP,ExAC,gnomAD
rs368217568	p.Ala719Val	missense variant	-	NC_000003.12:g.184386715C>T	ESP,ExAC,TOPMed,gnomAD
rs368217568	p.Ala719Glu	missense variant	-	NC_000003.12:g.184386715C>A	ESP,ExAC,TOPMed,gnomAD
rs751844021	p.Asp723Asn	missense variant	-	NC_000003.12:g.184386726G>A	ExAC,TOPMed,gnomAD
rs751844021	p.Asp723Tyr	missense variant	-	NC_000003.12:g.184386726G>T	ExAC,TOPMed,gnomAD
rs751844021	p.Asp723His	missense variant	-	NC_000003.12:g.184386726G>C	ExAC,TOPMed,gnomAD
rs781476129	p.Pro724Leu	missense variant	-	NC_000003.12:g.184386730C>T	ExAC,TOPMed,gnomAD
rs781476129	p.Pro724Gln	missense variant	-	NC_000003.12:g.184386730C>A	ExAC,TOPMed,gnomAD
rs1353675847	p.Cys726Tyr	missense variant	-	NC_000003.12:g.184386736G>A	gnomAD
NCI-TCGA novel	p.Cys726Arg	missense variant	-	NC_000003.12:g.184386735T>C	NCI-TCGA
rs756604395	p.Leu728Val	missense variant	-	NC_000003.12:g.184386741C>G	ExAC,gnomAD
rs748809890	p.Thr730Ile	missense variant	-	NC_000003.12:g.184386748C>T	ExAC,gnomAD
rs778183265	p.Thr730Ala	missense variant	-	NC_000003.12:g.184386747A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln732Arg	missense variant	-	NC_000003.12:g.184386754A>G	NCI-TCGA
rs1177348589	p.Arg734Ter	stop gained	-	NC_000003.12:g.184386848C>T	TOPMed,gnomAD
COSM446107	p.Arg734Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184386849G>A	NCI-TCGA Cosmic
rs746802637	p.Thr735Ser	missense variant	-	NC_000003.12:g.184386851A>T	ExAC,gnomAD
rs1451687064	p.Thr735Met	missense variant	-	NC_000003.12:g.184386852C>T	gnomAD
NCI-TCGA novel	p.Thr735Ala	missense variant	-	NC_000003.12:g.184386851A>G	NCI-TCGA
NCI-TCGA novel	p.Val736Leu	missense variant	-	NC_000003.12:g.184386854G>T	NCI-TCGA
rs1027622642	p.Cys738Arg	missense variant	-	NC_000003.12:g.184386860T>C	TOPMed
rs768399856	p.Pro740Arg	missense variant	-	NC_000003.12:g.184386867C>G	ExAC,TOPMed,gnomAD
rs1389646339	p.Pro740Ser	missense variant	-	NC_000003.12:g.184386866C>T	TOPMed,gnomAD
rs768399856	p.Pro740Leu	missense variant	-	NC_000003.12:g.184386867C>T	ExAC,TOPMed,gnomAD
rs761679640	p.Val741Ala	missense variant	-	NC_000003.12:g.184386870T>C	ExAC,TOPMed,gnomAD
rs1368444663	p.Val741Leu	missense variant	-	NC_000003.12:g.184386869G>T	gnomAD
rs774373999	p.Val742Leu	missense variant	-	NC_000003.12:g.184386872G>C	ExAC,gnomAD
rs1213007813	p.Val742Ala	missense variant	-	NC_000003.12:g.184386873T>C	gnomAD
rs142558131	p.Pro744Leu	missense variant	-	NC_000003.12:g.184386879C>T	ESP,ExAC,TOPMed,gnomAD
rs142558131	p.Pro744Gln	missense variant	-	NC_000003.12:g.184386879C>A	ESP,ExAC,TOPMed,gnomAD
rs1210129784	p.Pro745Ser	missense variant	-	NC_000003.12:g.184386881C>T	gnomAD
rs368225894	p.Pro745Arg	missense variant	-	NC_000003.12:g.184386882C>G	ESP,ExAC,TOPMed,gnomAD
rs368225894	p.Pro745Leu	missense variant	-	NC_000003.12:g.184386882C>T	ESP,ExAC,TOPMed,gnomAD
rs368225894	p.Pro745Gln	missense variant	-	NC_000003.12:g.184386882C>A	ESP,ExAC,TOPMed,gnomAD
rs1358916771	p.Ser747Thr	missense variant	-	NC_000003.12:g.184386888G>C	TOPMed
rs372143475	p.Pro749Ser	missense variant	-	NC_000003.12:g.184386893C>T	ESP,ExAC,TOPMed,gnomAD
rs146476400	p.Pro751Leu	missense variant	-	NC_000003.12:g.184386900C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146476400	p.Pro751Arg	missense variant	-	NC_000003.12:g.184386900C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1314054966	p.Val752Gly	missense variant	-	NC_000003.12:g.184386903T>G	TOPMed,gnomAD
rs550464753	p.Ala754Gly	missense variant	-	NC_000003.12:g.184386909C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs147905488	p.Ala754Pro	missense variant	-	NC_000003.12:g.184386908G>C	ESP,TOPMed
rs754647903	p.Pro755Ser	missense variant	-	NC_000003.12:g.184386911C>T	ExAC,TOPMed,gnomAD
rs978387329	p.Asp756Asn	missense variant	-	NC_000003.12:g.184386914G>A	TOPMed,gnomAD
rs1319059954	p.Gln757Ter	stop gained	-	NC_000003.12:g.184386917C>T	gnomAD
rs1369623177	p.Pro760His	missense variant	-	NC_000003.12:g.184386927C>A	gnomAD
rs1369623177	p.Pro760Leu	missense variant	-	NC_000003.12:g.184386927C>T	gnomAD
rs934985144	p.Val761Leu	missense variant	-	NC_000003.12:g.184386929G>C	TOPMed
rs373962669	p.Pro763Leu	missense variant	-	NC_000003.12:g.184386936C>T	ESP,ExAC,gnomAD
rs143678632	p.Glu764Lys	missense variant	-	NC_000003.12:g.184386938G>A	ESP,ExAC,TOPMed,gnomAD
COSM1421385	p.Glu764Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184387052G>T	NCI-TCGA Cosmic
rs776940194	p.Asp767Gly	missense variant	-	NC_000003.12:g.184387060A>G	ExAC,gnomAD
rs776940194	p.Asp767Val	missense variant	-	NC_000003.12:g.184387060A>T	ExAC,gnomAD
COSM1130287	p.Asp770Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184387069A>G	NCI-TCGA Cosmic
rs1048098703	p.Arg776Thr	missense variant	-	NC_000003.12:g.184387087G>C	TOPMed
rs763421267	p.Arg778Trp	missense variant	-	NC_000003.12:g.184387092C>T	ExAC,TOPMed,gnomAD
rs780586996	p.Arg778Gln	missense variant	-	NC_000003.12:g.184387093G>A	ExAC,TOPMed,gnomAD
COSM225184	p.Gly781Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184387102G>A	NCI-TCGA Cosmic
rs1448331685	p.Glu782Lys	missense variant	-	NC_000003.12:g.184387104G>A	TOPMed,gnomAD
rs1394754032	p.Glu782Asp	missense variant	-	NC_000003.12:g.184387106G>T	gnomAD
NCI-TCGA novel	p.Cys784Phe	missense variant	-	NC_000003.12:g.184387377G>T	NCI-TCGA
rs1209537829	p.Phe786Ser	missense variant	-	NC_000003.12:g.184387383T>C	gnomAD
rs768637567	p.Arg790Trp	missense variant	-	NC_000003.12:g.184387394C>T	TOPMed,gnomAD
rs771365613	p.Arg790Gln	missense variant	-	NC_000003.12:g.184387395G>A	ExAC,TOPMed,gnomAD
rs758972693	p.Arg793Trp	missense variant	-	NC_000003.12:g.184387403C>T	ExAC,TOPMed,gnomAD
rs199859929	p.Arg793Gln	missense variant	-	NC_000003.12:g.184387404G>A	ESP,ExAC,TOPMed,gnomAD
rs752188177	p.Ala795Val	missense variant	-	NC_000003.12:g.184387410C>T	ExAC,TOPMed,gnomAD
rs763703209	p.Thr797Met	missense variant	-	NC_000003.12:g.184387416C>T	ExAC,TOPMed,gnomAD
rs147576679	p.Arg798Gln	missense variant	-	NC_000003.12:g.184387419G>A	1000Genomes,ExAC,gnomAD
rs757024413	p.Arg798Trp	missense variant	-	NC_000003.12:g.184387418C>T	ExAC,TOPMed,gnomAD
rs1439145501	p.Trp799Ter	stop gained	-	NC_000003.12:g.184387422G>A	gnomAD
rs1277871699	p.Trp799Ter	stop gained	-	NC_000003.12:g.184387423G>A	gnomAD
rs750444995	p.His800Arg	missense variant	-	NC_000003.12:g.184387425A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His800Tyr	missense variant	-	NC_000003.12:g.184387424C>T	NCI-TCGA
rs111921981	p.Val802Ile	missense variant	-	NC_000003.12:g.184387430G>A	ESP,ExAC,TOPMed,gnomAD
rs1165920675	p.Pro804Leu	missense variant	-	NC_000003.12:g.184387437C>T	TOPMed
rs1331011803	p.Pro804Ser	missense variant	-	NC_000003.12:g.184387436C>T	gnomAD
COSM1421387	p.Phe806LeuPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.184387435_184387436insC	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe806LeuPheSerTerUnk	frameshift	-	NC_000003.12:g.184387436C>-	NCI-TCGA
rs1266669692	p.Gly807Asp	missense variant	-	NC_000003.12:g.184387446G>A	gnomAD
rs748210203	p.Leu808Phe	missense variant	-	NC_000003.12:g.184387450A>T	ExAC,gnomAD
rs867533246	p.Leu808Ile	missense variant	-	NC_000003.12:g.184387448T>A	gnomAD
rs1385236075	p.Ile809Ser	missense variant	-	NC_000003.12:g.184387452T>G	TOPMed
rs1249011690	p.Ala812Thr	missense variant	-	NC_000003.12:g.184387460G>A	gnomAD
rs1430396371	p.Thr815Ile	missense variant	-	NC_000003.12:g.184387470C>T	TOPMed
rs1460257201	p.Cys816Tyr	missense variant	-	NC_000003.12:g.184387473G>A	gnomAD
rs1340886663	p.Gly818Arg	missense variant	-	NC_000003.12:g.184387931G>A	TOPMed,gnomAD
rs1340886663	p.Gly818Arg	missense variant	-	NC_000003.12:g.184387931G>C	TOPMed,gnomAD
rs1246683634	p.Gly818Glu	missense variant	-	NC_000003.12:g.184387932G>A	gnomAD
NCI-TCGA novel	p.Gly818Trp	missense variant	-	NC_000003.12:g.184387931G>T	NCI-TCGA
rs752848515	p.Gly819Ala	missense variant	-	NC_000003.12:g.184387935G>C	ExAC,gnomAD
rs752848515	p.Gly819Val	missense variant	-	NC_000003.12:g.184387935G>T	ExAC,gnomAD
rs1349017676	p.Gly819Ser	missense variant	-	NC_000003.12:g.184387934G>A	TOPMed
rs138569844	p.Thr820Ile	missense variant	-	NC_000003.12:g.184387938C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138569844	p.Thr820Ser	missense variant	-	NC_000003.12:g.184387938C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1385669538	p.Glu822Gly	missense variant	-	NC_000003.12:g.184387944A>G	TOPMed
COSM271166	p.Glu822Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184387945G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu822Ter	stop gained	-	NC_000003.12:g.184387943G>T	NCI-TCGA
rs1296780028	p.Val823Glu	missense variant	-	NC_000003.12:g.184387947T>A	gnomAD
rs1276186761	p.His824Tyr	missense variant	-	NC_000003.12:g.184387949C>T	gnomAD
rs1276186761	p.His824Asp	missense variant	-	NC_000003.12:g.184387949C>G	gnomAD
rs1481968249	p.Val828Leu	missense variant	-	NC_000003.12:g.184387961G>T	gnomAD
rs1481968249	p.Val828Met	missense variant	-	NC_000003.12:g.184387961G>A	gnomAD
rs1359399284	p.Pro831His	missense variant	-	NC_000003.12:g.184387971C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Pro831Ser	missense variant	-	NC_000003.12:g.184387970C>T	NCI-TCGA
rs757406910	p.Arg832Trp	missense variant	-	NC_000003.12:g.184387973C>T	ExAC,TOPMed,gnomAD
rs569589731	p.Arg832Gln	missense variant	-	NC_000003.12:g.184387974G>A	ExAC,TOPMed,gnomAD
rs1389869381	p.Ala834Val	missense variant	-	NC_000003.12:g.184387980C>T	gnomAD
rs1382541634	p.Cys835Ser	missense variant	-	NC_000003.12:g.184387983G>C	TOPMed
rs1170976903	p.Pro838Leu	missense variant	-	NC_000003.12:g.184387992C>T	gnomAD
rs1376026705	p.Val839Ala	missense variant	-	NC_000003.12:g.184387995T>C	gnomAD
rs772596758	p.Arg840Leu	missense variant	-	NC_000003.12:g.184387998G>T	ExAC,gnomAD
rs772596758	p.Arg840His	missense variant	-	NC_000003.12:g.184387998G>A	ExAC,gnomAD
rs772596758	p.Arg840Pro	missense variant	-	NC_000003.12:g.184387998G>C	ExAC,gnomAD
rs1404596784	p.Val841Ala	missense variant	-	NC_000003.12:g.184388001T>C	gnomAD
rs768282928	p.Asn842Ser	missense variant	-	NC_000003.12:g.184388004A>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro843Leu	missense variant	-	NC_000003.12:g.184388007C>T	NCI-TCGA
rs949208267	p.Thr844Ser	missense variant	-	NC_000003.12:g.184388009A>T	TOPMed
rs201955458	p.Asp845Asn	missense variant	-	NC_000003.12:g.184388012G>A	ExAC,TOPMed,gnomAD
rs764769637	p.Gln849Lys	missense variant	-	NC_000003.12:g.184388024C>A	ExAC,gnomAD
rs1309985769	p.Gln849His	missense variant	-	NC_000003.12:g.184388026G>C	gnomAD
rs773174535	p.Cys850Tyr	missense variant	-	NC_000003.12:g.184388028G>A	ExAC,gnomAD
COSM730197	p.Pro851Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184388030C>T	NCI-TCGA Cosmic
rs762788894	p.Val852Leu	missense variant	-	NC_000003.12:g.184388033G>T	ExAC,TOPMed,gnomAD
rs762788894	p.Val852Leu	missense variant	-	NC_000003.12:g.184388033G>C	ExAC,TOPMed,gnomAD
rs1192222231	p.Gly853Arg	missense variant	-	NC_000003.12:g.184388589G>C	gnomAD
rs867362534	p.Ser854Leu	missense variant	-	NC_000003.12:g.184388593C>T	TOPMed
rs1471634189	p.Ala856Thr	missense variant	-	NC_000003.12:g.184388598G>A	gnomAD
COSM6164097	p.Pro858His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184388605C>A	NCI-TCGA Cosmic
rs1161031065	p.Gln859His	missense variant	-	NC_000003.12:g.184388609G>C	gnomAD
rs759567227	p.Gly861Ala	missense variant	-	NC_000003.12:g.184388614G>C	ExAC,gnomAD
rs759567227	p.Gly861Glu	missense variant	-	NC_000003.12:g.184388614G>A	ExAC,gnomAD
rs1378468933	p.Asp862Gly	missense variant	-	NC_000003.12:g.184388617A>G	TOPMed
rs753981487	p.Asp862Glu	missense variant	-	NC_000003.12:g.184388618C>G	ExAC,gnomAD
rs753981487	p.Asp862Glu	missense variant	-	NC_000003.12:g.184388618C>A	ExAC,gnomAD
rs1293997980	p.Gln865Lys	missense variant	-	NC_000003.12:g.184388625C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gln865Arg	missense variant	-	NC_000003.12:g.184388626A>G	NCI-TCGA
rs370795270	p.Gly868Ala	missense variant	-	NC_000003.12:g.184388635G>C	ESP,ExAC,TOPMed,gnomAD
rs374891781	p.Arg870Gln	missense variant	-	NC_000003.12:g.184388641G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750573985	p.Arg870Trp	missense variant	-	NC_000003.12:g.184388640C>T	ExAC,TOPMed,gnomAD
COSM6097135	p.Arg870Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184388641G>T	NCI-TCGA Cosmic
rs780450294	p.Gly871Val	missense variant	-	NC_000003.12:g.184388644G>T	ExAC,TOPMed,gnomAD
rs780450294	p.Gly871Asp	missense variant	-	NC_000003.12:g.184388644G>A	ExAC,TOPMed,gnomAD
rs751893106	p.Arg873His	missense variant	-	NC_000003.12:g.184388650G>A	ExAC,TOPMed,gnomAD
rs1229778326	p.Arg873Cys	missense variant	-	NC_000003.12:g.184388649C>T	gnomAD
rs1229778326	p.Arg873Ser	missense variant	-	NC_000003.12:g.184388649C>A	gnomAD
rs1321445988	p.Ala875Pro	missense variant	-	NC_000003.12:g.184388655G>C	gnomAD
COSM3590801	p.Pro880Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184388670C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu881Gln	missense variant	-	NC_000003.12:g.184388673G>C	NCI-TCGA
rs1482148978	p.Ser882Asn	missense variant	-	NC_000003.12:g.184388677G>A	TOPMed,gnomAD
rs1361709660	p.Gln883Ter	stop gained	-	NC_000003.12:g.184388679C>T	TOPMed
rs769119423	p.Val889Met	missense variant	-	NC_000003.12:g.184388697G>A	ExAC,gnomAD
rs1180289633	p.Pro890Leu	missense variant	-	NC_000003.12:g.184388701C>T	gnomAD
rs1422992323	p.Pro891Thr	missense variant	-	NC_000003.12:g.184388703C>A	gnomAD
rs770684361	p.Glu894Lys	missense variant	-	NC_000003.12:g.184388712G>A	ExAC,gnomAD
rs1427339779	p.Met895Thr	missense variant	-	NC_000003.12:g.184388716T>C	gnomAD
rs1327316128	p.Ile898Val	missense variant	-	NC_000003.12:g.184388724A>G	TOPMed
NCI-TCGA novel	p.Cys900LeuPheSerTerUnkUnkUnk	frameshift	-	NC_000003.12:g.184388731_184388737GCAGATG>-	NCI-TCGA
NCI-TCGA novel	p.Cys900SerPheSerTerUnkUnkUnk	frameshift	-	NC_000003.12:g.184388731G>-	NCI-TCGA
COSM6164096	p.Arg901Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184388734G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg901Lys	missense variant	-	NC_000003.12:g.184388734G>A	NCI-TCGA
rs774326071	p.Gly903Trp	missense variant	-	NC_000003.12:g.184388739G>T	ExAC,TOPMed,gnomAD
rs768554092	p.Ala904Thr	missense variant	-	NC_000003.12:g.184388893G>A	ExAC,gnomAD
rs773313783	p.Gly905Arg	missense variant	-	NC_000003.12:g.184388896G>A	ExAC,gnomAD
rs1463344508	p.Pro907Leu	missense variant	-	NC_000003.12:g.184388903C>T	gnomAD
rs372347094	p.Arg911Gln	missense variant	-	NC_000003.12:g.184388915G>A	ESP,ExAC,gnomAD
rs762973881	p.Arg911Trp	missense variant	-	NC_000003.12:g.184388914C>T	ExAC,TOPMed,gnomAD
rs1170303333	p.Asp912Glu	missense variant	-	NC_000003.12:g.184388919T>G	gnomAD
rs1423789540	p.Ser915Ala	missense variant	-	NC_000003.12:g.184388926T>G	TOPMed,gnomAD
rs1423789540	p.Ser915Pro	missense variant	-	NC_000003.12:g.184388926T>C	TOPMed,gnomAD
rs774371597	p.Leu916Pro	missense variant	-	NC_000003.12:g.184388930T>C	ExAC,gnomAD
COSM1042082	p.Pro917Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184388932C>T	NCI-TCGA Cosmic
COSM1327672	p.Ser919Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184388939C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser919Pro	missense variant	-	NC_000003.12:g.184388938T>C	NCI-TCGA
rs767829975	p.Gly921Asp	missense variant	-	NC_000003.12:g.184388945G>A	ExAC,gnomAD
rs139248428	p.Ser922Leu	missense variant	-	NC_000003.12:g.184388948C>T	ESP,ExAC,TOPMed,gnomAD
rs753420285	p.Gly923Glu	missense variant	-	NC_000003.12:g.184388951G>A	ExAC,gnomAD
rs753420285	p.Gly923Ala	missense variant	-	NC_000003.12:g.184388951G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu925Asp	missense variant	-	NC_000003.12:g.184388958G>T	NCI-TCGA
rs1434850913	p.Ser926Arg	missense variant	-	NC_000003.12:g.184388961T>A	gnomAD
rs200027250	p.Arg927Leu	missense variant	-	NC_000003.12:g.184388963G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200027250	p.Arg927Gln	missense variant	-	NC_000003.12:g.184388963G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs571279136	p.Arg927Ter	stop gained	-	NC_000003.12:g.184388962C>T	1000Genomes,ExAC,gnomAD
rs745569564	p.Cys928Arg	missense variant	-	NC_000003.12:g.184388965T>C	ExAC,gnomAD
rs1476663696	p.Arg931Cys	missense variant	-	NC_000003.12:g.184388974C>T	TOPMed
rs758051783	p.Arg931His	missense variant	-	NC_000003.12:g.184388975G>A	ExAC,TOPMed,gnomAD
rs779756651	p.Thr933Lys	missense variant	-	NC_000003.12:g.184388981C>A	ExAC,TOPMed,gnomAD
rs779756651	p.Thr933Met	missense variant	-	NC_000003.12:g.184388981C>T	ExAC,TOPMed,gnomAD
rs776496708	p.Arg936Gln	missense variant	-	NC_000003.12:g.184388990G>A	ExAC,TOPMed,gnomAD
rs768605437	p.Arg936Trp	missense variant	-	NC_000003.12:g.184388989C>T	ExAC,TOPMed,gnomAD
rs774476759	p.Arg937Gln	missense variant	-	NC_000003.12:g.184388993G>A	ExAC,TOPMed,gnomAD
rs142339785	p.Arg937Trp	missense variant	-	NC_000003.12:g.184388992C>T	ESP,ExAC,TOPMed,gnomAD
rs202232030	p.Pro938Ser	missense variant	-	NC_000003.12:g.184388995C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs748143889	p.Ala939Thr	missense variant	-	NC_000003.12:g.184389369G>A	ExAC,TOPMed,gnomAD
COSM3695953	p.Glu941Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.184389375G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu941Asp	missense variant	-	NC_000003.12:g.184389377G>T	NCI-TCGA
COSM3774776	p.Arg943Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184389382G>A	NCI-TCGA Cosmic
COSM3590802	p.Asp945Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184389387G>A	NCI-TCGA Cosmic
COSM4834468	p.Glu949Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184389401G>C	NCI-TCGA Cosmic
rs745919418	p.Lys950Ter	stop gained	-	NC_000003.12:g.184389402A>T	ExAC,gnomAD
rs772205933	p.Ala952Asp	missense variant	-	NC_000003.12:g.184389409C>A	ExAC,gnomAD
rs1447001552	p.Glu953Lys	missense variant	-	NC_000003.12:g.184389411G>A	TOPMed,gnomAD
rs1167220187	p.Gly954Ser	missense variant	-	NC_000003.12:g.184389414G>A	gnomAD
COSM3590803	p.Ser955Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184389418C>A	NCI-TCGA Cosmic
rs949603102	p.Ter956Trp	stop lost	-	NC_000003.12:g.184389421A>G	gnomAD
rs775723421	p.Ter956Gln	stop lost	-	NC_000003.12:g.184389420T>C	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0012236	DiGeorge Syndrome	disease	MGD
C0016037	Fibrodysplasia Ossificans Progressiva	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0040034	Thrombocytopenia	phenotype	BEFREE
C0079541	Holoprosencephaly	disease	BEFREE
C0220704	Shprintzen syndrome	disease	MGD
C0270972	Cornelia De Lange Syndrome	disease	BEFREE
C0376634	Craniofacial Abnormalities	group	BEFREE
C0474566	Platelet hematocrit measurement	phenotype	GWASCAT
C0919267	ovarian neoplasm	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1306341	Mental handicap	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2936346	22q11 Deletion Syndrome	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0008201	heparin binding	IEA
GO:0019955	cytokine binding	NAS
GO:0045545	syndecan binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001501	skeletal system development	TAS
GO:0001649	osteoblast differentiation	IEA
GO:0001702	gastrulation with mouth forming second	IEA
GO:0001707	mesoderm formation	IEA
GO:0002053	positive regulation of mesenchymal cell proliferation	IMP
GO:0021919	BMP signaling pathway involved in spinal cord dorsal/ventral patterning	IMP
GO:0030336	negative regulation of cell migration	IDA
GO:0030514	negative regulation of BMP signaling pathway	IMP
GO:0030900	forebrain development	IEA
GO:0033504	floor plate development	TAS
GO:0045668	negative regulation of osteoblast differentiation	IMP
GO:0045785	positive regulation of cell adhesion	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005615	extracellular space	NAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in decreased expression of CHRD mRNA	28903501
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 CHRD mRNA	28628672
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in increased expression of CHRD mRNA	12832660
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of CHRD mRNA	21346803
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of CHRD mRNA	21346803
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in decreased expression of CHRD mRNA	22485181
D000082	Acetaminophen	Acetaminophen results in decreased expression of CHRD mRNA	29067470
D000082	Acetaminophen	Acetaminophen affects the expression of CHRD mRNA	17562736
D020106	Acrylamide	Acrylamide results in decreased expression of CHRD mRNA	28959563
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of CHRD mRNA	16483693
D000952	Antigens, Polyomavirus Transforming	Antigens, Polyomavirus Transforming results in increased expression of CHRD mRNA	26680231
D001280	Atrazine	Atrazine results in increased expression of CHRD mRNA	22378314
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of CHRD mRNA	22228805
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of CHRD mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased methylation of CHRD intron	30906313
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 CHRD mRNA	28628672
C006780	bisphenol A	bisphenol A results in increased expression of CHRD mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of CHRD mRNA	21786754
C006780	bisphenol A	bisphenol A results in increased expression of CHRD mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of CHRD gene	28505145
C000611646	bisphenol F	bisphenol F results in increased expression of CHRD mRNA	30951980
D002392	Catechin	[Catechin co-treated with Grape Seed Proanthocyanidins] results in increased expression of CHRD mRNA	24763279
C026690	cerous chloride	cerous chloride results in increased expression of CHRD mRNA	23573234
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of CHRD mRNA	24386269
D003471	Cuprizone	Cuprizone results in decreased expression of CHRD mRNA	26577399
D016572	Cyclosporine	Cyclosporine results in decreased expression of CHRD mRNA	25562108
D000077209	Decitabine	Decitabine results in increased expression of CHRD 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 A] results in increased expression of CHRD mRNA	28628672
D003976	Diazinon	Diazinon results in increased methylation of CHRD gene	22964155
D004147	Dioxins	Dioxins affects the expression of CHRD mRNA	20463971
D004958	Estradiol	Estradiol affects the expression of CHRD mRNA	14699072
C511402	Grape Seed Proanthocyanidins	[Catechin co-treated with Grape Seed Proanthocyanidins] results in increased expression of CHRD mRNA	24763279
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 CHRD mRNA	28628672
D007213	Indomethacin	Indomethacin results in increased expression of CHRD mRNA	28201806
C482199	lipopolysaccharide, E coli O55-B5	lipopolysaccharide, E coli O55-B5 results in increased expression of CHRD mRNA	24972896
D015122	Mercaptopurine	Mercaptopurine results in increased expression of CHRD mRNA	23358152
D008694	Methamphetamine	Methamphetamine results in increased expression of CHRD mRNA	29802913
D008727	Methotrexate	Methotrexate results in decreased expression of CHRD mRNA	24449571
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate affects the expression of CHRD mRNA	21195148
C028577	monobutyl phthalate	monobutyl phthalate affects the expression of CHRD mRNA	21195148
D009534	Niclosamide	Niclosamide results in decreased expression of CHRD mRNA	31398420
C025589	ochratoxin A	ochratoxin A results in decreased expression of CHRD mRNA	18417182
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of CHRD mRNA	19710929
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride affects the expression of CHRD mRNA	14699072
C017947	sodium arsenite	sodium arsenite results in decreased expression of CHRD mRNA	29361514
D012999	Soman	Soman results in decreased expression of CHRD mRNA	19281266
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of CHRD mRNA	31299295
D013629	Tamoxifen	Tamoxifen affects the expression of CHRD mRNA	14699072
D013739	Testosterone	Testosterone results in increased expression of CHRD mRNA	22138414
D014260	Triclosan	Triclosan results in decreased expression of CHRD mRNA	30510588
D014635	Valproic Acid	Valproic Acid affects the expression of CHRD mRNA	17963808
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of CHRD gene	25560391
D019287	Zinc Sulfate	Zinc Sulfate results in decreased expression of CHRD mRNA	17506889

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0217	Developmental protein
KW-0325	Glycoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0964	Secreted
KW-0732	Signal

Interpro

InterPro ID	InterPro Term
IPR016353	Chordin
IPR010895	CHRD
IPR001007	VWF_dom

PROSITE

PROSITE ID	PROSITE Term
PS50933	CHRD
PS01208	VWFC_1
PS50184	VWFC_2

Pfam

Pfam ID	Pfam Term
PF07452	CHRD
PF00093	VWC

Gene: CHRD

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