CleftGeneDB-Search

Gene: HKDC1

Basic information

Tag	Content
Uniprot ID	Q2TB90; B5MDN9; Q2TB91; Q5VTC7; Q7Z373; Q8WU37; Q96EH2; Q9H5Y9;
Entrez ID	80201
Genbank protein ID	AAH21278.1; AAH12337.1; AAI10505.1; BAB15478.1; CAD98002.1; AAI10506.2;
Genbank nucleotide ID	NM_025130.3
Ensembl protein ID	ENSP00000346643
Ensembl nucleotide ID	ENSG00000156510
Gene name	Hexokinase HKDC1
Gene symbol	HKDC1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	27229527
Functional description	Catalyzes the phosphorylation of hexose to hexose 6-phosphate, although at very low level compared to other hexokinases (PubMed:30517626). Has low glucose phosphorylating activity compared to other hexokinases (PubMed:30517626). Involved in glucose homeostasis and hepatic lipid accumulation. Required to maintain whole-body glucose homeostasis during pregnancy; however additional evidences are required to confirm this role (By similarity).
Sequence	MFAVHLMAFY FSKLKEDQIK KVDRFLYHMR LSDDTLLDIM RRFRAEMEKG LAKDTNPTAA 60 VKMLPTFVRA IPDGSENGEF LSLDLGGSKF RVLKVQVAEE GKRHVQMESQ FYPTPNEIIR 120 GNGTELFEYV ADCLADFMKT KDLKHKKLPL GLTFSFPCRQ TKLEEGVLLS WTKKFKARGV 180 QDTDVVSRLT KAMRRHKDMD VDILALVNDT VGTMMTCAYD DPYCEVGVII GTGTNACYME 240 DMSNIDLVEG DEGRMCINTE WGAFGDDGAL EDIRTEFDRE LDLGSLNPGK QLFEKMISGL 300 YLGELVRLIL LKMAKAGLLF GGEKSSALHT KGKIETRHVA AMEKYKEGLA NTREILVDLG 360 LEPSEADCIA VQHVCTIVSF RSANLCAAAL AAILTRLREN KKVERLRTTV GMDGTLYKIH 420 PQYPKRLHKV VRKLVPSCDV RFLLSESGST KGAAMVTAVA SRVQAQRKQI DRVLALFQLT 480 REQLVDVQAK MRAELEYGLK KKSHGLATVR MLPTYVCGLP DGTEKGKFLA LDLGGTNFRV 540 LLVKIRSGRR SVRMYNKIFA IPLEIMQGTG EELFDHIVQC IADFLDYMGL KGASLPLGFT 600 FSFPCRQMSI DKGTLIGWTK GFKATDCEGE DVVDMLREAI KRRNEFDLDI VAVVNDTVGT 660 MMTCGYEDPN CEIGLIAGTG SNMCYMEDMR NIEMVEGGEG KMCINTEWGG FGDNGCIDDI 720 WTRYDTEVDE GSLNPGKQRY EKMTSGMYLG EIVRQILIDL TKQGLLFRGQ ISERLRTRGI 780 FETKFLSQIE SDRLALLQVR RILQQLGLDS TCEDSIVVKE VCGAVSRRAA QLCGAGLAAI 840 VEKRREDQGL EHLRITVGVD GTLYKLHPHF SRILQETVKE LAPRCDVTFM LSEDGSGKGA 900 ALITAVAKRL QQAQKEN 917

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	Species	Evidence	Details
1:1 ortholog	HKDC1	489019	J9JHN0	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	HKDC1	102189736	A0A452E4U0	Capra hircus	Prediction	More>>
1:1 ortholog	HKDC1	100072686	A0A3Q2HML6	Equus caballus	Prediction	More>>
1:1 ortholog	HKDC1	80201	Q2TB90	Homo sapiens	Publication	More>>
1:1 ortholog	Hkdc1	216019	Q91W97	Mus musculus	Prediction	More>>
1:1 ortholog	HKDC1	450504	H2Q205	Pan troglodytes	Prediction	More>>
1:1 ortholog	HKDC1		F1SUF3	Sus scrofa	Prediction	More>>
1:1 ortholog	HKDC1	100345105	G1SMV5	Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog			M0R3X7	Rattus norvegicus	Prediction	More>>
1:1 ortholog	hkdc1	321224	B8A5H6	Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
HKDC1	rs201518882C>T; p.Arg768*	WES and Sanger sequencing	27229527

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs749915025	p.Phe2Ile	missense variant	-	NC_000010.11:g.69220439T>A	ExAC,gnomAD
rs757822416	p.Ala3Val	missense variant	-	NC_000010.11:g.69220443C>T	ExAC,gnomAD
rs1363202796	p.Val4Ile	missense variant	-	NC_000010.11:g.69220445G>A	TOPMed,gnomAD
rs539132157	p.Leu6Ser	missense variant	-	NC_000010.11:g.69220452T>C	1000Genomes,gnomAD
NCI-TCGA novel	p.Phe9Leu	missense variant	-	NC_000010.11:g.69220460T>C	NCI-TCGA
rs1314297969	p.Ser12Asn	missense variant	-	NC_000010.11:g.69220470G>A	gnomAD
rs781349629	p.Leu14Met	missense variant	-	NC_000010.11:g.69220475C>A	ExAC,gnomAD
rs144737613	p.Glu16Gly	missense variant	-	NC_000010.11:g.69220482A>G	ESP,TOPMed,gnomAD
rs769960575	p.Asp17Glu	missense variant	-	NC_000010.11:g.69220486C>A	ExAC,gnomAD
rs1230394269	p.Gln18Lys	missense variant	-	NC_000010.11:g.69220487C>A	gnomAD
rs773389361	p.Ile19Leu	missense variant	-	NC_000010.11:g.69220490A>C	ExAC,gnomAD
NCI-TCGA novel	p.Val22Leu	missense variant	-	NC_000010.11:g.69227207G>T	NCI-TCGA
rs774238377	p.Asp23Asn	missense variant	-	NC_000010.11:g.69227210G>A	ExAC,gnomAD
rs746989246	p.Asp23Gly	missense variant	-	NC_000010.11:g.69227211A>G	ExAC,gnomAD
rs1449338509	p.Arg24Met	missense variant	-	NC_000010.11:g.69227214G>T	gnomAD
rs1174394401	p.Leu26Gln	missense variant	-	NC_000010.11:g.69227220T>A	gnomAD
rs1457435413	p.Arg30Gln	missense variant	-	NC_000010.11:g.69227232G>A	TOPMed
rs990696322	p.Arg30Trp	missense variant	-	NC_000010.11:g.69227231C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser32Phe	missense variant	-	NC_000010.11:g.69227238C>T	NCI-TCGA
NCI-TCGA novel	p.Ser32AlaPheSerTerUnk	frameshift	-	NC_000010.11:g.69227231_69227232insGGCT	NCI-TCGA
rs147449838	p.Asp33Asn	missense variant	-	NC_000010.11:g.69227240G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1314791510	p.Asp33Glu	missense variant	-	NC_000010.11:g.69227242T>A	gnomAD
rs761756731	p.Leu36Ile	missense variant	-	NC_000010.11:g.69227249C>A	ExAC,TOPMed,gnomAD
rs368046305	p.Leu37Trp	missense variant	-	NC_000010.11:g.69227253T>G	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Leu37PhePheSerTerUnkUnk	frameshift	-	NC_000010.11:g.69227249_69227250insT	NCI-TCGA
rs1367131209	p.Asp38Asn	missense variant	-	NC_000010.11:g.69227255G>A	gnomAD
rs769706917	p.Met40Ile	missense variant	-	NC_000010.11:g.69227263G>C	ExAC,gnomAD
NCI-TCGA novel	p.Met40Ile	missense variant	-	NC_000010.11:g.69227263G>T	NCI-TCGA
rs773002957	p.Arg41Met	missense variant	-	NC_000010.11:g.69227265G>T	ExAC
rs145939161	p.Arg42Leu	missense variant	-	NC_000010.11:g.69227268G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145939161	p.Arg42Gln	missense variant	-	NC_000010.11:g.69227268G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139901086	p.Arg42Trp	missense variant	-	NC_000010.11:g.69227267C>T	ESP,ExAC,TOPMed,gnomAD
rs759051888	p.Phe43Leu	missense variant	-	NC_000010.11:g.69227270T>C	ExAC,TOPMed,gnomAD
rs759051888	p.Phe43Ile	missense variant	-	NC_000010.11:g.69227270T>A	ExAC,TOPMed,gnomAD
rs200818764	p.Arg44Gln	missense variant	-	NC_000010.11:g.69227274G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs372174004	p.Arg44Trp	missense variant	-	NC_000010.11:g.69227273C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200818764	p.Arg44Pro	missense variant	-	NC_000010.11:g.69227274G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1215238873	p.Ala45Thr	missense variant	-	NC_000010.11:g.69227276G>A	TOPMed
rs200216341	p.Glu46Lys	missense variant	-	NC_000010.11:g.69227279G>A	1000Genomes,ExAC,gnomAD
rs1164805984	p.Glu46Asp	missense variant	-	NC_000010.11:g.69227281G>T	gnomAD
rs1416192032	p.Met47Thr	missense variant	-	NC_000010.11:g.69227283T>C	gnomAD
rs915524808	p.Gly50Ser	missense variant	-	NC_000010.11:g.69227291G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Leu51Gln	missense variant	-	NC_000010.11:g.69227295T>A	NCI-TCGA
rs1329813254	p.Lys53Arg	missense variant	-	NC_000010.11:g.69227301A>G	gnomAD
rs10823320	p.Asp54Gly	missense variant	-	NC_000010.11:g.69227304A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs10823320	p.Asp54Ala	missense variant	-	NC_000010.11:g.69227304A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1440122474	p.Thr55Pro	missense variant	-	NC_000010.11:g.69227306A>C	gnomAD
rs1440122474	p.Thr55Ala	missense variant	-	NC_000010.11:g.69227306A>G	gnomAD
rs745977543	p.Thr55Asn	missense variant	-	NC_000010.11:g.69227307C>A	ExAC,gnomAD
rs1356164295	p.Pro57Ser	missense variant	-	NC_000010.11:g.69227312C>T	gnomAD
rs149191020	p.Thr58Ser	missense variant	-	NC_000010.11:g.69227315A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142379141	p.Thr58Lys	missense variant	-	NC_000010.11:g.69227316C>A	ESP,ExAC,TOPMed,gnomAD
rs149191020	p.Thr58Ala	missense variant	-	NC_000010.11:g.69227315A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142379141	p.Thr58Met	missense variant	-	NC_000010.11:g.69227316C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr58ProPheSerTerUnk	frameshift	-	NC_000010.11:g.69227310_69227311insCC	NCI-TCGA
rs1214891454	p.Ala59Val	missense variant	-	NC_000010.11:g.69227319C>T	gnomAD
rs551212116	p.Val61Met	missense variant	-	NC_000010.11:g.69227324G>A	1000Genomes,ExAC,gnomAD
rs1435785800	p.Val61Glu	missense variant	-	NC_000010.11:g.69227325T>A	gnomAD
rs1444849836	p.Met63Leu	missense variant	-	NC_000010.11:g.69227330A>T	TOPMed
rs1399764254	p.Leu64Ser	missense variant	-	NC_000010.11:g.69227334T>C	TOPMed
rs74138158	p.Thr66Asn	missense variant	-	NC_000010.11:g.69227340C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs74138158	p.Thr66Ser	missense variant	-	NC_000010.11:g.69227340C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs74138158	p.Thr66Ile	missense variant	-	NC_000010.11:g.69227340C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759029504	p.Val68Ile	missense variant	-	NC_000010.11:g.69227345G>A	ExAC,TOPMed,gnomAD
rs753210133	p.Arg69Thr	missense variant	-	NC_000010.11:g.69227349G>C	ExAC
rs886102574	p.Ala70Val	missense variant	-	NC_000010.11:g.69227352C>T	TOPMed
rs1476599749	p.Ile71Val	missense variant	-	NC_000010.11:g.69227354A>G	gnomAD
rs754115538	p.Asp73Asn	missense variant	-	NC_000010.11:g.69227360G>A	ExAC,TOPMed,gnomAD
rs1408493981	p.Ser75Phe	missense variant	-	NC_000010.11:g.69227367C>T	gnomAD
rs779055823	p.Glu76Lys	missense variant	-	NC_000010.11:g.69227369G>A	ExAC,gnomAD
rs1038840704	p.Gly78Trp	missense variant	-	NC_000010.11:g.69232769G>T	TOPMed
rs201928386	p.Gly86Arg	missense variant	-	NC_000010.11:g.69232793G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys89Thr	missense variant	-	NC_000010.11:g.69232803A>C	NCI-TCGA
rs535368605	p.Arg91Gln	missense variant	-	NC_000010.11:g.69232809G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs374874844	p.Arg91Ter	stop gained	-	NC_000010.11:g.69232808C>T	ESP,ExAC,TOPMed,gnomAD
rs777627985	p.Val92Ala	missense variant	-	NC_000010.11:g.69232812T>C	ExAC,TOPMed,gnomAD
rs777627985	p.Val92Glu	missense variant	-	NC_000010.11:g.69232812T>A	ExAC,TOPMed,gnomAD
rs145373338	p.Leu93Arg	missense variant	-	NC_000010.11:g.69232815T>G	ExAC,TOPMed,gnomAD
rs145373338	p.Leu93Gln	missense variant	-	NC_000010.11:g.69232815T>A	ExAC,TOPMed,gnomAD
rs374745925	p.Lys94Thr	missense variant	-	NC_000010.11:g.69232818A>C	TOPMed,gnomAD
rs775603000	p.Val95Leu	missense variant	-	NC_000010.11:g.69232820G>T	TOPMed,gnomAD
rs771677758	p.Ala98Thr	missense variant	-	NC_000010.11:g.69232829G>A	ExAC,TOPMed,gnomAD
RCV000736152	p.Gly101Trp	missense variant	-	NC_000010.11:g.69232838G>T	ClinVar
rs746574175	p.Gly101Val	missense variant	-	NC_000010.11:g.69232839G>T	ExAC,gnomAD
rs746574175	p.Gly101Glu	missense variant	-	NC_000010.11:g.69232839G>A	ExAC,gnomAD
rs1308659867	p.Lys102Arg	missense variant	-	NC_000010.11:g.69232842A>G	gnomAD
rs777007060	p.Arg103Gln	missense variant	-	NC_000010.11:g.69232845G>A	ExAC,TOPMed,gnomAD
rs201010349	p.Arg103Ter	stop gained	-	NC_000010.11:g.69232844C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs181028981	p.His104Gln	missense variant	-	NC_000010.11:g.69232849C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs575180113	p.Val105Met	missense variant	-	NC_000010.11:g.69232850G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1413075018	p.Gln106Arg	missense variant	-	NC_000010.11:g.69232854A>G	gnomAD
rs773667832	p.Met107Leu	missense variant	-	NC_000010.11:g.69232856A>C	ExAC,TOPMed
rs773667832	p.Met107Val	missense variant	-	NC_000010.11:g.69232856A>G	ExAC,TOPMed
rs1023702925	p.Met107Thr	missense variant	-	NC_000010.11:g.69232857T>C	TOPMed
rs377327285	p.Glu108Ter	stop gained	-	NC_000010.11:g.69232859G>T	ESP,TOPMed,gnomAD
rs137872948	p.Glu108Asp	missense variant	-	NC_000010.11:g.69232861G>C	ESP,ExAC,TOPMed,gnomAD
rs1212089669	p.Ser109Gly	missense variant	-	NC_000010.11:g.69232862A>G	gnomAD
rs140840058	p.Ser109Asn	missense variant	-	NC_000010.11:g.69232863G>A	ESP,ExAC,TOPMed,gnomAD
rs752581214	p.Gln110Glu	missense variant	-	NC_000010.11:g.69232865C>G	TOPMed,gnomAD
COSM919881	p.Gln110Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.69232865C>T	NCI-TCGA Cosmic
rs755173680	p.Phe111Leu	missense variant	-	NC_000010.11:g.69232870C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe111Leu	missense variant	-	NC_000010.11:g.69232870C>G	NCI-TCGA
rs1426650772	p.Pro113Gln	missense variant	-	NC_000010.11:g.69232875C>A	TOPMed
NCI-TCGA novel	p.Pro113Leu	missense variant	-	NC_000010.11:g.69232875C>T	NCI-TCGA
rs35746503	p.Thr114Lys	missense variant	-	NC_000010.11:g.69232878C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs35746503	p.Thr114Met	missense variant	-	NC_000010.11:g.69232878C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1165537102	p.Pro115Ala	missense variant	-	NC_000010.11:g.69232880C>G	gnomAD
rs1165537102	p.Pro115Thr	missense variant	-	NC_000010.11:g.69232880C>A	gnomAD
rs112078514	p.Asn116Ser	missense variant	-	NC_000010.11:g.69232884A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs112078514	p.Asn116Ile	missense variant	-	NC_000010.11:g.69232884A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu117Asp	missense variant	-	NC_000010.11:g.69232888A>T	NCI-TCGA
rs539903056	p.Arg120Ser	missense variant	-	NC_000010.11:g.69232895C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs539903056	p.Arg120Cys	missense variant	-	NC_000010.11:g.69232895C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200115968	p.Arg120His	missense variant	-	NC_000010.11:g.69232896G>A	ExAC,TOPMed,gnomAD
rs1326361327	p.Gly121Arg	missense variant	-	NC_000010.11:g.69232898G>A	gnomAD
rs768062530	p.Gly121Glu	missense variant	-	NC_000010.11:g.69232899G>A	ExAC,TOPMed,gnomAD
rs757010965	p.Gly123Ser	missense variant	-	NC_000010.11:g.69232904G>A	ExAC,gnomAD
rs757010965	p.Gly123Arg	missense variant	-	NC_000010.11:g.69232904G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly123Val	missense variant	-	NC_000010.11:g.69232905G>T	NCI-TCGA
rs874556	p.Thr124Ile	missense variant	-	NC_000010.11:g.69232908C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs874556	p.Thr124Arg	missense variant	-	NC_000010.11:g.69232908C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200060654	p.Glu125Gln	missense variant	-	NC_000010.11:g.69232910G>C	1000Genomes,ExAC,gnomAD
rs200060654	p.Glu125Lys	missense variant	-	NC_000010.11:g.69232910G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Glu128Asp	missense variant	-	NC_000010.11:g.69233022A>T	NCI-TCGA
rs1434799267	p.Tyr129Cys	missense variant	-	NC_000010.11:g.69233024A>G	gnomAD
rs1396449043	p.Tyr129His	missense variant	-	NC_000010.11:g.69233023T>C	gnomAD
NCI-TCGA novel	p.Tyr129Asp	missense variant	-	NC_000010.11:g.69233023T>G	NCI-TCGA
NCI-TCGA novel	p.Asp132Asn	missense variant	-	NC_000010.11:g.69233032G>A	NCI-TCGA
rs1373078597	p.Cys133Ser	missense variant	-	NC_000010.11:g.69233035T>A	gnomAD
rs1299715766	p.Ala135Ser	missense variant	-	NC_000010.11:g.69233041G>T	TOPMed
NCI-TCGA novel	p.Asp136Glu	missense variant	-	NC_000010.11:g.69233046T>A	NCI-TCGA
NCI-TCGA novel	p.Met138Ile	missense variant	-	NC_000010.11:g.69233052G>A	NCI-TCGA
rs775556630	p.Thr140Ile	missense variant	-	NC_000010.11:g.69233057C>T	ExAC,gnomAD
rs374105773	p.Lys141Glu	missense variant	-	NC_000010.11:g.69233059A>G	ESP,ExAC,gnomAD
rs555319606	p.Asp142Asn	missense variant	-	NC_000010.11:g.69233062G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs762825958	p.Asp142Val	missense variant	-	NC_000010.11:g.69233063A>T	ExAC,TOPMed,gnomAD
rs555319606	p.Asp142Tyr	missense variant	-	NC_000010.11:g.69233062G>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys146Asn	missense variant	-	NC_000010.11:g.69233076G>T	NCI-TCGA
rs1310484467	p.Leu148Phe	missense variant	-	NC_000010.11:g.69233082G>T	gnomAD
rs751406817	p.Leu148Ser	missense variant	-	NC_000010.11:g.69233081T>C	ExAC,gnomAD
rs1156694417	p.Leu150Phe	missense variant	-	NC_000010.11:g.69233086C>T	gnomAD
rs1217900513	p.Leu150Arg	missense variant	-	NC_000010.11:g.69233087T>G	gnomAD
rs1485429294	p.Gly151Asp	missense variant	-	NC_000010.11:g.69233090G>A	gnomAD
rs754703913	p.Thr153Ser	missense variant	-	NC_000010.11:g.69233095A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser155Tyr	missense variant	-	NC_000010.11:g.69233102C>A	NCI-TCGA
NCI-TCGA novel	p.Ser155Cys	missense variant	-	NC_000010.11:g.69233102C>G	NCI-TCGA
NCI-TCGA novel	p.Phe156Leu	missense variant	-	NC_000010.11:g.69233106C>A	NCI-TCGA
rs1420316029	p.Pro157Arg	missense variant	-	NC_000010.11:g.69233108C>G	gnomAD
COSM3439958	p.Pro157Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69233107C>T	NCI-TCGA Cosmic
rs369090638	p.Cys158Arg	missense variant	-	NC_000010.11:g.69233110T>C	ESP
rs755652822	p.Arg159Ter	stop gained	-	NC_000010.11:g.69233113C>T	ExAC,TOPMed,gnomAD
rs1453501741	p.Arg159Gln	missense variant	-	NC_000010.11:g.69233114G>A	gnomAD
rs1011566124	p.Gln160His	missense variant	-	NC_000010.11:g.69233118G>C	TOPMed,gnomAD
rs1333488252	p.Lys162Arg	missense variant	-	NC_000010.11:g.69233123A>G	gnomAD
rs777361977	p.Leu163Pro	missense variant	-	NC_000010.11:g.69233126T>C	ExAC,TOPMed,gnomAD
rs1397126431	p.Glu164Ter	stop gained	-	NC_000010.11:g.69233128G>T	gnomAD
rs142118901	p.Glu165Asp	missense variant	-	NC_000010.11:g.69233133G>T	ExAC,gnomAD
rs142118901	p.Glu165Asp	missense variant	-	NC_000010.11:g.69233133G>C	ExAC,gnomAD
rs780227986	p.Leu168Pro	missense variant	-	NC_000010.11:g.69239049T>C	ExAC,TOPMed,gnomAD
rs747283338	p.Ser170Leu	missense variant	-	NC_000010.11:g.69239055C>T	ExAC,TOPMed,gnomAD
rs1481769824	p.Ser170Pro	missense variant	-	NC_000010.11:g.69239054T>C	TOPMed,gnomAD
rs747283338	p.Ser170Leu	missense variant	-	NC_000010.11:g.69239055C>T	NCI-TCGA,NCI-TCGA Cosmic
rs35542013	p.Thr172Ala	missense variant	-	NC_000010.11:g.69239060A>G	gnomAD
rs776807836	p.Lys174Asn	missense variant	-	NC_000010.11:g.69239068G>C	ExAC,gnomAD
rs1180230211	p.Lys174Glu	missense variant	-	NC_000010.11:g.69239066A>G	TOPMed,gnomAD
rs1163108685	p.Lys174Met	missense variant	-	NC_000010.11:g.69239067A>T	gnomAD
rs1427878837	p.Phe175Leu	missense variant	-	NC_000010.11:g.69239069T>C	TOPMed
rs1003834962	p.Phe175Leu	missense variant	-	NC_000010.11:g.69239071T>G	TOPMed,gnomAD
rs774349922	p.Arg178Gln	missense variant	-	NC_000010.11:g.69239079G>A	ExAC,TOPMed,gnomAD
rs748281031	p.Arg178Ter	stop gained	-	NC_000010.11:g.69239078C>T	ExAC,TOPMed,gnomAD
rs748281031	p.Arg178Gly	missense variant	-	NC_000010.11:g.69239078C>G	ExAC,TOPMed,gnomAD
rs748281031	p.Arg178Ter	stop gained	-	NC_000010.11:g.69239078C>T	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg178Leu	missense variant	-	NC_000010.11:g.69239079G>T	NCI-TCGA
rs774349922	p.Arg178Gln	missense variant	-	NC_000010.11:g.69239079G>A	NCI-TCGA
rs1427850994	p.Val180Leu	missense variant	-	NC_000010.11:g.69239084G>C	gnomAD
rs1031165897	p.Gln181Arg	missense variant	-	NC_000010.11:g.69239088A>G	TOPMed
rs759332556	p.Gln181Glu	missense variant	-	NC_000010.11:g.69239087C>G	ExAC,gnomAD
rs775110223	p.Asp182His	missense variant	-	NC_000010.11:g.69239090G>C	ExAC,TOPMed,gnomAD
rs1282271335	p.Asp182Gly	missense variant	-	NC_000010.11:g.69239091A>G	gnomAD
NCI-TCGA novel	p.Asp182Ala	missense variant	-	NC_000010.11:g.69239091A>C	NCI-TCGA
rs776156547	p.Thr183Met	missense variant	-	NC_000010.11:g.69239094C>T	ExAC,TOPMed,gnomAD
rs537673064	p.Asp184Tyr	missense variant	-	NC_000010.11:g.69239096G>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM3867669	p.Asp184Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69239096G>A	NCI-TCGA Cosmic
rs1250202846	p.Val186Ala	missense variant	-	NC_000010.11:g.69239103T>C	TOPMed
rs1227728216	p.Ser187Gly	missense variant	-	NC_000010.11:g.69239105A>G	TOPMed
rs200176844	p.Arg188Cys	missense variant	-	NC_000010.11:g.69239108C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs764588181	p.Arg188Leu	missense variant	-	NC_000010.11:g.69239109G>T	ExAC,TOPMed,gnomAD
rs200176844	p.Arg188Ser	missense variant	-	NC_000010.11:g.69239108C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs764588181	p.Arg188His	missense variant	-	NC_000010.11:g.69239109G>A	ExAC,TOPMed,gnomAD
rs142842640	p.Lys191Glu	missense variant	-	NC_000010.11:g.69239117A>G	ESP,ExAC,TOPMed
rs1486318032	p.Arg194Gly	missense variant	-	NC_000010.11:g.69239126A>G	gnomAD
rs1187431635	p.Arg195Ile	missense variant	-	NC_000010.11:g.69239130G>T	TOPMed,gnomAD
rs372325309	p.Arg195Ser	missense variant	-	NC_000010.11:g.69239131A>T	ESP,gnomAD
rs372325309	p.Arg195Ser	missense variant	-	NC_000010.11:g.69239131A>C	ESP,gnomAD
NCI-TCGA novel	p.Arg195Lys	missense variant	-	NC_000010.11:g.69239130G>A	NCI-TCGA
rs200815826	p.His196Gln	missense variant	-	NC_000010.11:g.69239134C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200815826	p.His196Gln	missense variant	-	NC_000010.11:g.69239134C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His196Tyr	missense variant	-	NC_000010.11:g.69239132C>T	NCI-TCGA
rs755319669	p.Lys197Asn	missense variant	-	NC_000010.11:g.69239137G>T	ExAC,gnomAD
rs1282133173	p.Met199Thr	missense variant	-	NC_000010.11:g.69240656T>C	TOPMed
rs1345430186	p.Met199Val	missense variant	-	NC_000010.11:g.69240655A>G	TOPMed
rs1282133173	p.Met199Thr	missense variant	-	NC_000010.11:g.69240656T>C	NCI-TCGA Cosmic
rs150616036	p.Val201Met	missense variant	-	NC_000010.11:g.69240661G>A	ESP,ExAC,TOPMed,gnomAD
rs771030979	p.Asp202Asn	missense variant	-	NC_000010.11:g.69240664G>A	ExAC,TOPMed,gnomAD
rs1451112333	p.Ile203Leu	missense variant	-	NC_000010.11:g.69240667A>C	gnomAD
rs7899445	p.Leu204Pro	missense variant	-	NC_000010.11:g.69240671T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746881511	p.Ala205Val	missense variant	-	NC_000010.11:g.69240674C>T	ExAC,gnomAD
COSM6130122	p.Ala205Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69240673G>T	NCI-TCGA Cosmic
rs768588334	p.Leu206Met	missense variant	-	NC_000010.11:g.69240676C>A	ExAC,gnomAD
rs761666866	p.Val207Asp	missense variant	-	NC_000010.11:g.69240680T>A	ExAC,TOPMed,gnomAD
rs772902487	p.Asn208Ser	missense variant	-	NC_000010.11:g.69240683A>G	ExAC,gnomAD
rs762433175	p.Thr210Ser	missense variant	-	NC_000010.11:g.69240689C>G	ExAC,gnomAD
rs146839444	p.Val211Met	missense variant	-	NC_000010.11:g.69240691G>A	ESP,ExAC,TOPMed
NCI-TCGA novel	p.Gly212Glu	missense variant	-	NC_000010.11:g.69240695G>A	NCI-TCGA
rs140306975	p.Cys217Tyr	missense variant	-	NC_000010.11:g.69240710G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140306975	p.Cys217Ser	missense variant	-	NC_000010.11:g.69240710G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1231177784	p.Ala218Val	missense variant	-	NC_000010.11:g.69240713C>T	TOPMed
rs369442663	p.Tyr219Cys	missense variant	-	NC_000010.11:g.69240716A>G	ESP,ExAC,TOPMed,gnomAD
rs756481700	p.Asp220Glu	missense variant	-	NC_000010.11:g.69240720C>A	ExAC,TOPMed,gnomAD
rs1478984635	p.Asp221Glu	missense variant	-	NC_000010.11:g.69240723C>A	gnomAD
rs764281687	p.Asp221Asn	missense variant	-	NC_000010.11:g.69240721G>A	ExAC,TOPMed,gnomAD
rs764281687	p.Asp221Asn	missense variant	-	NC_000010.11:g.69240721G>A	NCI-TCGA,NCI-TCGA Cosmic
rs754086568	p.Pro222Ser	missense variant	-	NC_000010.11:g.69240724C>T	ExAC,TOPMed,gnomAD
rs754086568	p.Pro222Thr	missense variant	-	NC_000010.11:g.69240724C>A	ExAC,TOPMed,gnomAD
rs1208260783	p.Pro222Leu	missense variant	-	NC_000010.11:g.69240725C>T	TOPMed,gnomAD
rs1252801346	p.Cys224Arg	missense variant	-	NC_000010.11:g.69240730T>C	gnomAD
NCI-TCGA novel	p.Cys224Ter	stop gained	-	NC_000010.11:g.69240732C>A	NCI-TCGA
rs779081625	p.Glu225Lys	missense variant	-	NC_000010.11:g.69240733G>A	NCI-TCGA,NCI-TCGA Cosmic
rs779081625	p.Glu225Lys	missense variant	-	NC_000010.11:g.69240733G>A	ExAC,TOPMed,gnomAD
rs746967718	p.Gly227Val	missense variant	-	NC_000010.11:g.69240740G>T	ExAC,gnomAD
rs746967718	p.Gly227Asp	missense variant	-	NC_000010.11:g.69240740G>A	ExAC,gnomAD
rs146469853	p.Ile229Thr	missense variant	-	NC_000010.11:g.69240746T>C	ESP,ExAC,TOPMed,gnomAD
rs781250486	p.Ile229Val	missense variant	-	NC_000010.11:g.69240745A>G	ExAC,TOPMed,gnomAD
rs1348840713	p.Gly231Glu	missense variant	-	NC_000010.11:g.69243182G>A	TOPMed
rs1169258508	p.Gly231Arg	missense variant	-	NC_000010.11:g.69240751G>A	gnomAD
rs762456244	p.Thr232Ile	missense variant	-	NC_000010.11:g.69243185C>T	gnomAD
COSM3790906	p.Gly233Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69243188G>A	NCI-TCGA Cosmic
rs755874155	p.Thr234Ile	missense variant	-	NC_000010.11:g.69243191C>T	ExAC,TOPMed,gnomAD
rs1365099509	p.Thr234Ala	missense variant	-	NC_000010.11:g.69243190A>G	gnomAD
rs755874155	p.Thr234Ser	missense variant	-	NC_000010.11:g.69243191C>G	ExAC,TOPMed,gnomAD
rs149059487	p.Ala236Val	missense variant	-	NC_000010.11:g.69243197C>T	ExAC,TOPMed,gnomAD
rs149059487	p.Ala236Glu	missense variant	-	NC_000010.11:g.69243197C>A	ExAC,TOPMed,gnomAD
rs1374968789	p.Met239Arg	missense variant	-	NC_000010.11:g.69243206T>G	TOPMed
COSM3807554	p.Glu240Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69243210G>T	NCI-TCGA Cosmic
rs745440824	p.Asp241Ala	missense variant	-	NC_000010.11:g.69243212A>C	ExAC,gnomAD
rs773971814	p.Asp241Asn	missense variant	-	NC_000010.11:g.69243211G>A	ExAC,gnomAD
rs761189703	p.Met242Ile	missense variant	-	NC_000010.11:g.69243216G>C	ExAC,gnomAD
rs771567736	p.Met242Leu	missense variant	-	NC_000010.11:g.69243214A>C	ExAC,gnomAD
rs771567736	p.Met242Val	missense variant	-	NC_000010.11:g.69243214A>G	ExAC,gnomAD
rs768927190	p.Ser243Gly	missense variant	-	NC_000010.11:g.69243217A>G	ExAC,gnomAD
rs777018497	p.Asn244Asp	missense variant	-	NC_000010.11:g.69243220A>G	ExAC,TOPMed,gnomAD
rs377243106	p.Asp246Asn	missense variant	-	NC_000010.11:g.69243226G>A	ESP,ExAC,TOPMed,gnomAD
rs750665250	p.Leu247Val	missense variant	-	NC_000010.11:g.69243229C>G	ExAC,gnomAD
rs750665250	p.Leu247Met	missense variant	-	NC_000010.11:g.69243229C>A	ExAC,gnomAD
rs1012977794	p.Val248Met	missense variant	-	NC_000010.11:g.69243232G>A	TOPMed
rs140372000	p.Asp251Asn	missense variant	-	NC_000010.11:g.69243241G>A	ESP,ExAC,TOPMed
rs545087108	p.Glu252Ala	missense variant	-	NC_000010.11:g.69243245A>C	1000Genomes,ExAC,gnomAD
rs545087108	p.Glu252Gly	missense variant	-	NC_000010.11:g.69243245A>G	1000Genomes,ExAC,gnomAD
rs138980146	p.Glu252Gln	missense variant	-	NC_000010.11:g.69243244G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs138980146	p.Glu252Lys	missense variant	-	NC_000010.11:g.69243244G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs757034092	p.Asn258Ser	missense variant	-	NC_000010.11:g.69243263A>G	ExAC,gnomAD
rs778603677	p.Thr259Arg	missense variant	-	NC_000010.11:g.69243266C>G	ExAC,gnomAD
rs771587834	p.Trp261Leu	missense variant	-	NC_000010.11:g.69243272G>T	ExAC,TOPMed,gnomAD
rs771587834	p.Trp261Ser	missense variant	-	NC_000010.11:g.69243272G>C	ExAC,TOPMed,gnomAD
rs771587834	p.Trp261Ter	stop gained	-	NC_000010.11:g.69243272G>A	ExAC,TOPMed,gnomAD
rs1259883986	p.Ala263Asp	missense variant	-	NC_000010.11:g.69243278C>A	TOPMed
NCI-TCGA novel	p.Ala263ProPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.69243272G>-	NCI-TCGA
rs1214057381	p.Phe264Ser	missense variant	-	NC_000010.11:g.69243281T>C	gnomAD
rs769249790	p.Phe264Leu	missense variant	-	NC_000010.11:g.69243280T>C	ExAC,TOPMed,gnomAD
rs1056958695	p.Gly265Arg	missense variant	-	NC_000010.11:g.69243283G>A	TOPMed
rs770214158	p.Asp266His	missense variant	-	NC_000010.11:g.69243286G>C	ExAC,gnomAD
rs372652067	p.Asp267Asn	missense variant	-	NC_000010.11:g.69243289G>A	ESP,ExAC,TOPMed,gnomAD
rs766398895	p.Asp267Glu	missense variant	-	NC_000010.11:g.69243291C>A	ExAC,TOPMed,gnomAD
rs372652067	p.Asp267Tyr	missense variant	-	NC_000010.11:g.69243289G>T	ESP,ExAC,TOPMed,gnomAD
rs751701291	p.Gly268Arg	missense variant	-	NC_000010.11:g.69243292G>C	ExAC,TOPMed,gnomAD
rs751701291	p.Gly268Arg	missense variant	-	NC_000010.11:g.69243292G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly268Ala	missense variant	-	NC_000010.11:g.69243293G>C	NCI-TCGA
rs1384018429	p.Ala269Thr	missense variant	-	NC_000010.11:g.69243295G>A	TOPMed
rs1393095357	p.Ala269Val	missense variant	-	NC_000010.11:g.69243296C>T	gnomAD
rs753715247	p.Leu270Pro	missense variant	-	NC_000010.11:g.69243299T>C	ExAC,gnomAD
COSM4015349	p.Leu270Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69243298C>A	NCI-TCGA Cosmic
rs757052108	p.Asp272Gly	missense variant	-	NC_000010.11:g.69243305A>G	ExAC,gnomAD
rs377063347	p.Ile273Val	missense variant	-	NC_000010.11:g.69243307A>G	ESP,ExAC,TOPMed
rs377063347	p.Ile273Leu	missense variant	-	NC_000010.11:g.69243307A>C	ESP,ExAC,TOPMed
rs143670175	p.Arg274Cys	missense variant	-	NC_000010.11:g.69243310C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779545610	p.Arg274Leu	missense variant	-	NC_000010.11:g.69243311G>T	ExAC,TOPMed,gnomAD
rs779545610	p.Arg274His	missense variant	-	NC_000010.11:g.69243311G>A	ExAC,TOPMed,gnomAD
rs143670175	p.Arg274Ser	missense variant	-	NC_000010.11:g.69243310C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768044122	p.Thr275Asn	missense variant	-	NC_000010.11:g.69243314C>A	ExAC,gnomAD
rs768044122	p.Thr275Ile	missense variant	-	NC_000010.11:g.69243314C>T	ExAC,gnomAD
rs1220348053	p.Phe277Leu	missense variant	-	NC_000010.11:g.69243319T>C	gnomAD
rs748606620	p.Asp278His	missense variant	-	NC_000010.11:g.69243322G>C	ExAC,TOPMed,gnomAD
rs748606620	p.Asp278Asn	missense variant	-	NC_000010.11:g.69243322G>A	ExAC,TOPMed,gnomAD
rs1262930437	p.Asp282Tyr	missense variant	-	NC_000010.11:g.69243334G>T	TOPMed
rs770301912	p.Leu283Phe	missense variant	-	NC_000010.11:g.69243337C>T	ExAC,gnomAD
rs202105296	p.Gly284Ser	missense variant	-	NC_000010.11:g.69243340G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000491251	p.Gly284Ser	missense variant	Keratoconus 1 (KTCN1)	NC_000010.11:g.69243340G>A	ClinVar
NCI-TCGA novel	p.Asn287Asp	missense variant	-	NC_000010.11:g.69243349A>G	NCI-TCGA
rs532821391	p.Pro288Ala	missense variant	-	NC_000010.11:g.69243352C>G	1000Genomes,ExAC,gnomAD
rs746421239	p.Lys290Glu	missense variant	-	NC_000010.11:g.69243358A>G	TOPMed,gnomAD
rs369488494	p.Phe293Leu	missense variant	-	NC_000010.11:g.69246080T>C	TOPMed
rs749727150	p.Glu294Lys	missense variant	-	NC_000010.11:g.69246083G>A	ExAC,gnomAD
NCI-TCGA novel	p.Lys295Asn	missense variant	-	NC_000010.11:g.69246088G>C	NCI-TCGA
rs149591258	p.Met296Ile	missense variant	-	NC_000010.11:g.69246091G>C	ESP,ExAC,TOPMed,gnomAD
rs774637759	p.Ser298Gly	missense variant	-	NC_000010.11:g.69246095A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu300Met	missense variant	-	NC_000010.11:g.69246101C>A	NCI-TCGA
rs763033929	p.Tyr301His	missense variant	-	NC_000010.11:g.69246104T>C	ExAC,TOPMed,gnomAD
rs1389665361	p.Glu304Gln	missense variant	-	NC_000010.11:g.69246113G>C	gnomAD
rs1389665361	p.Glu304Lys	missense variant	-	NC_000010.11:g.69246113G>A	gnomAD
rs1174261944	p.Val306Phe	missense variant	-	NC_000010.11:g.69246119G>T	gnomAD
rs1311167065	p.Met313Thr	missense variant	-	NC_000010.11:g.69246141T>C	TOPMed
rs374482574	p.Lys315Asn	missense variant	-	NC_000010.11:g.69246148G>T	ESP,ExAC,TOPMed,gnomAD
rs1390540641	p.Leu318Pro	missense variant	-	NC_000010.11:g.69246156T>C	gnomAD
rs765211552	p.Leu319Arg	missense variant	-	NC_000010.11:g.69246159T>G	ExAC,gnomAD
rs368695945	p.Gly321Cys	missense variant	-	NC_000010.11:g.69246164G>T	ESP,TOPMed
rs1375213775	p.Gly322Asp	missense variant	-	NC_000010.11:g.69246168G>A	TOPMed
rs773123328	p.Ser326Pro	missense variant	-	NC_000010.11:g.69246179T>C	ExAC,gnomAD
rs574025853	p.Ala327Val	missense variant	-	NC_000010.11:g.69246183C>T	1000Genomes,ExAC,gnomAD
rs371609931	p.Lys331Gln	missense variant	-	NC_000010.11:g.69246194A>C	ESP,ExAC,TOPMed,gnomAD
rs1447178533	p.Gly332Asp	missense variant	-	NC_000010.11:g.69246198G>A	TOPMed
rs1331619768	p.Lys333Glu	missense variant	-	NC_000010.11:g.69246200A>G	gnomAD
rs1331619768	p.Lys333Gln	missense variant	-	NC_000010.11:g.69246200A>C	gnomAD
rs796052175	p.Ile334Asn	missense variant	-	NC_000010.11:g.69246204T>A	-
rs144214911	p.Ile334Met	missense variant	-	NC_000010.11:g.69246205C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000190179	p.Ile334Asn	missense variant	Long QT syndrome (LQTS)	NC_000010.11:g.69246204T>A	ClinVar
rs767245818	p.Glu335Lys	missense variant	-	NC_000010.11:g.69246206G>A	ExAC,gnomAD
rs148723879	p.Arg337Trp	missense variant	-	NC_000010.11:g.69246212C>T	ESP,ExAC,TOPMed,gnomAD
RCV000736153	p.Arg337Trp	missense variant	-	NC_000010.11:g.69246212C>T	ClinVar
rs755672415	p.Arg337Gln	missense variant	-	NC_000010.11:g.69246213G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg337GlyPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.69246211A>-	NCI-TCGA
rs1477687662	p.His338Arg	missense variant	-	NC_000010.11:g.69246216A>G	gnomAD
rs778490547	p.His338Asn	missense variant	-	NC_000010.11:g.69246215C>A	ExAC,gnomAD
rs373637440	p.Val339Leu	missense variant	-	NC_000010.11:g.69246218G>C	ESP,ExAC,TOPMed,gnomAD
rs373637440	p.Val339Met	missense variant	-	NC_000010.11:g.69246218G>A	ESP,ExAC,TOPMed,gnomAD
rs746134263	p.Ala341Thr	missense variant	-	NC_000010.11:g.69246224G>A	ExAC,gnomAD
rs1421322369	p.Met342Leu	missense variant	-	NC_000010.11:g.69246227A>C	TOPMed
COSM919889	p.Glu343Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69246232G>T	NCI-TCGA Cosmic
rs1318466746	p.Lys344Asn	missense variant	-	NC_000010.11:g.69247360G>T	TOPMed
rs780325598	p.Tyr345Cys	missense variant	-	NC_000010.11:g.69247362A>G	ExAC,TOPMed,gnomAD
rs768742191	p.Glu347Lys	missense variant	-	NC_000010.11:g.69247367G>A	ExAC,gnomAD
rs368162432	p.Gly348Ser	missense variant	-	NC_000010.11:g.69247370G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly348Val	missense variant	-	NC_000010.11:g.69247371G>T	NCI-TCGA
rs966963237	p.Asn351Asp	missense variant	-	NC_000010.11:g.69247379A>G	TOPMed
NCI-TCGA novel	p.Glu354Ter	stop gained	-	NC_000010.11:g.69247388G>T	NCI-TCGA
COSM919890	p.Glu354Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69247390G>T	NCI-TCGA Cosmic
rs1373020419	p.Ile355Phe	missense variant	-	NC_000010.11:g.69247391A>T	TOPMed,gnomAD
rs200034765	p.Pro363Leu	missense variant	-	NC_000010.11:g.69247416C>T	ESP,ExAC,TOPMed,gnomAD
rs1334323154	p.Pro363Ser	missense variant	-	NC_000010.11:g.69247415C>T	gnomAD
RCV000736154	p.Pro363Leu	missense variant	-	NC_000010.11:g.69247416C>T	ClinVar
rs1355730260	p.Ser364Thr	missense variant	-	NC_000010.11:g.69247418T>A	gnomAD
COSM4911353	p.Glu365Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69247421G>A	NCI-TCGA Cosmic
COSM4825408	p.Asp367Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69247427G>A	NCI-TCGA Cosmic
rs1049699696	p.Ile369Val	missense variant	-	NC_000010.11:g.69247433A>G	TOPMed,gnomAD
rs1049699696	p.Ile369Phe	missense variant	-	NC_000010.11:g.69247433A>T	TOPMed,gnomAD
rs760356131	p.Val371Ile	missense variant	-	NC_000010.11:g.69247439G>A	ExAC,TOPMed,gnomAD
rs760356131	p.Val371Phe	missense variant	-	NC_000010.11:g.69247439G>T	ExAC,TOPMed,gnomAD
rs1249387483	p.His373Tyr	missense variant	-	NC_000010.11:g.69247445C>T	TOPMed,gnomAD
rs563041413	p.His373Gln	missense variant	-	NC_000010.11:g.69247447T>A	1000Genomes,ExAC,gnomAD
rs1260651206	p.His373Arg	missense variant	-	NC_000010.11:g.69247446A>G	TOPMed
rs753331440	p.Ile377Val	missense variant	-	NC_000010.11:g.69247457A>G	ExAC,TOPMed,gnomAD
rs952016916	p.Val378Ile	missense variant	-	NC_000010.11:g.69247460G>A	gnomAD
rs750940077	p.Arg381His	missense variant	-	NC_000010.11:g.69247470G>A	ExAC,TOPMed,gnomAD
rs750940077	p.Arg381Pro	missense variant	-	NC_000010.11:g.69247470G>C	ExAC,TOPMed,gnomAD
rs765726218	p.Arg381Cys	missense variant	-	NC_000010.11:g.69247469C>T	ExAC,gnomAD
rs758771292	p.Ser382Leu	missense variant	-	NC_000010.11:g.69247473C>T	ExAC,TOPMed,gnomAD
rs1335266496	p.Ala383Thr	missense variant	-	NC_000010.11:g.69247475G>A	gnomAD
rs751807486	p.Ala383Val	missense variant	-	NC_000010.11:g.69247476C>T	ExAC,gnomAD
rs755230182	p.Asn384Ser	missense variant	-	NC_000010.11:g.69247479A>G	ExAC,gnomAD
rs1299963587	p.Leu390Gln	missense variant	-	NC_000010.11:g.69247497T>A	gnomAD
rs1342912409	p.Ala391Val	missense variant	-	NC_000010.11:g.69247500C>T	gnomAD
rs374002325	p.Arg396His	missense variant	-	NC_000010.11:g.69247515G>A	ESP,ExAC,TOPMed,gnomAD
rs139689016	p.Arg396Cys	missense variant	-	NC_000010.11:g.69247514C>T	ESP,ExAC,TOPMed,gnomAD
rs745760323	p.Leu397Phe	missense variant	-	NC_000010.11:g.69247517C>T	ExAC,TOPMed,gnomAD
rs200584895	p.Arg398Gly	missense variant	-	NC_000010.11:g.69247520C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs200584895	p.Arg398Trp	missense variant	-	NC_000010.11:g.69247520C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs746771373	p.Arg398Pro	missense variant	-	NC_000010.11:g.69247521G>C	ExAC,TOPMed,gnomAD
rs746771373	p.Arg398Gln	missense variant	-	NC_000010.11:g.69247521G>A	ExAC,TOPMed,gnomAD
rs1161728549	p.Lys401Arg	missense variant	-	NC_000010.11:g.69247530A>G	TOPMed,gnomAD
rs144349538	p.Lys401Asn	missense variant	-	NC_000010.11:g.69247531G>C	ESP,ExAC,TOPMed,gnomAD
rs761300598	p.Glu404Gly	missense variant	-	NC_000010.11:g.69247539A>G	ExAC,gnomAD
rs764742218	p.Arg405Gly	missense variant	-	NC_000010.11:g.69247541C>G	ExAC,TOPMed,gnomAD
rs1429930647	p.Arg405Gln	missense variant	-	NC_000010.11:g.69247542G>A	TOPMed
rs764742218	p.Arg405Trp	missense variant	-	NC_000010.11:g.69247541C>T	ExAC,TOPMed,gnomAD
rs201086271	p.Arg407Trp	missense variant	-	NC_000010.11:g.69247547C>T	ExAC,TOPMed,gnomAD
rs199822492	p.Arg407Gln	missense variant	-	NC_000010.11:g.69247548G>A	1000Genomes,ExAC,gnomAD
rs201086271	p.Arg407Gly	missense variant	-	NC_000010.11:g.69247547C>G	ExAC,TOPMed,gnomAD
rs199822492	p.Arg407Leu	missense variant	-	NC_000010.11:g.69247548G>T	1000Genomes,ExAC,gnomAD
rs1377304259	p.Val410Glu	missense variant	-	NC_000010.11:g.69247557T>A	TOPMed,gnomAD
rs756161477	p.Gly411Val	missense variant	-	NC_000010.11:g.69247560G>T	ExAC,gnomAD
rs1307705503	p.Gly411Cys	missense variant	-	NC_000010.11:g.69247559G>T	gnomAD
rs1313941504	p.Met412Thr	missense variant	-	NC_000010.11:g.69247563T>C	gnomAD
rs745832289	p.Gly414Ser	missense variant	-	NC_000010.11:g.69247568G>A	ExAC,TOPMed,gnomAD
rs758451752	p.Gly414Asp	missense variant	-	NC_000010.11:g.69247569G>A	ExAC,gnomAD
rs1248185050	p.Thr415Ile	missense variant	-	NC_000010.11:g.69247572C>T	gnomAD
rs1186186491	p.Leu416Phe	missense variant	-	NC_000010.11:g.69247574C>T	gnomAD
rs1251972733	p.Lys418Gln	missense variant	-	NC_000010.11:g.69247580A>C	TOPMed
rs1229653624	p.Ile419Val	missense variant	-	NC_000010.11:g.69247583A>G	TOPMed
rs768497397	p.Ile419Thr	missense variant	-	NC_000010.11:g.69247584T>C	ExAC,TOPMed,gnomAD
rs201518882	p.His420Tyr	missense variant	-	NC_000010.11:g.69247586C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375906723	p.His420Gln	missense variant	-	NC_000010.11:g.69247588C>A	ExAC,TOPMed,gnomAD
RCV000755127	p.His420Tyr	missense variant	Nonsyndromic cleft lip palate	NC_000010.11:g.69247586C>T	ClinVar
rs769215392	p.Gln422Glu	missense variant	-	NC_000010.11:g.69247592C>G	ExAC,gnomAD
rs1347768559	p.Gln422Arg	missense variant	-	NC_000010.11:g.69247593A>G	TOPMed
rs541792195	p.Arg426His	missense variant	-	NC_000010.11:g.69248435G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs148832840	p.Arg426Cys	missense variant	-	NC_000010.11:g.69248434C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs541792195	p.Arg426Leu	missense variant	-	NC_000010.11:g.69248435G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1321797206	p.Lys429Gln	missense variant	-	NC_000010.11:g.69248443A>C	TOPMed,gnomAD
rs1321797206	p.Lys429Glu	missense variant	-	NC_000010.11:g.69248443A>G	TOPMed,gnomAD
rs1220274415	p.Lys429Asn	missense variant	-	NC_000010.11:g.69248445G>T	gnomAD
rs764387778	p.Val431Met	missense variant	-	NC_000010.11:g.69248449G>A	ExAC,gnomAD
rs1490017420	p.Val435Phe	missense variant	-	NC_000010.11:g.69248461G>T	gnomAD
rs1207885136	p.Ser437Thr	missense variant	-	NC_000010.11:g.69248468G>C	gnomAD
rs370651048	p.Asp439Val	missense variant	-	NC_000010.11:g.69248474A>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val440Asp	missense variant	-	NC_000010.11:g.69248477T>A	NCI-TCGA
COSM68988	p.Val440ProPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.69248475_69248485TGTCCGCTTCC>-	NCI-TCGA Cosmic
rs1053421576	p.Arg441Leu	missense variant	-	NC_000010.11:g.69248480G>T	TOPMed
rs202161330	p.Arg441Cys	missense variant	-	NC_000010.11:g.69248479C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1053421576	p.Arg441His	missense variant	-	NC_000010.11:g.69248480G>A	TOPMed
rs1416151561	p.Leu443Phe	missense variant	-	NC_000010.11:g.69248485C>T	gnomAD
rs1163059706	p.Ser445Leu	missense variant	-	NC_000010.11:g.69248492C>T	gnomAD
rs751592107	p.Glu446Gly	missense variant	-	NC_000010.11:g.69248495A>G	ExAC,gnomAD
rs61756700	p.Glu446Gln	missense variant	-	NC_000010.11:g.69248494G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu446Lys	missense variant	-	NC_000010.11:g.69248494G>A	NCI-TCGA
rs539551107	p.Ser447Asn	missense variant	-	NC_000010.11:g.69248498G>A	TOPMed,gnomAD
rs754978096	p.Ser449Asn	missense variant	-	NC_000010.11:g.69248504G>A	ExAC,TOPMed,gnomAD
rs1304364228	p.Thr450Ser	missense variant	-	NC_000010.11:g.69248507C>G	gnomAD
NCI-TCGA novel	p.Lys451Thr	missense variant	-	NC_000010.11:g.69248510A>C	NCI-TCGA
rs1039928352	p.Gly452Arg	missense variant	-	NC_000010.11:g.69248512G>A	TOPMed,gnomAD
rs563834781	p.Gly452Glu	missense variant	-	NC_000010.11:g.69248513G>A	1000Genomes,ExAC,gnomAD
rs1437619948	p.Ala454Thr	missense variant	-	NC_000010.11:g.69248518G>A	gnomAD
rs1483722665	p.Met455Ile	missense variant	-	NC_000010.11:g.69248523G>A	gnomAD
NCI-TCGA novel	p.Thr457Ile	missense variant	-	NC_000010.11:g.69248528C>T	NCI-TCGA
NCI-TCGA novel	p.Thr457Asn	missense variant	-	NC_000010.11:g.69248528C>A	NCI-TCGA
rs552439176	p.Ala458Thr	missense variant	-	NC_000010.11:g.69248530G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs745328910	p.Ala458Val	missense variant	-	NC_000010.11:g.69248531C>T	ExAC,TOPMed,gnomAD
rs745328910	p.Ala458Glu	missense variant	-	NC_000010.11:g.69248531C>A	ExAC,TOPMed,gnomAD
rs552439176	p.Ala458Ser	missense variant	-	NC_000010.11:g.69248530G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs371090137	p.Arg462His	missense variant	-	NC_000010.11:g.69248543G>A	ESP,ExAC,TOPMed,gnomAD
rs1039209123	p.Arg462Cys	missense variant	-	NC_000010.11:g.69248542C>T	TOPMed
rs371090137	p.Arg462Pro	missense variant	-	NC_000010.11:g.69248543G>C	ESP,ExAC,TOPMed,gnomAD
rs762100434	p.Val463Met	missense variant	-	NC_000010.11:g.69248545G>A	ExAC,TOPMed,gnomAD
rs765520015	p.Gln464Leu	missense variant	-	NC_000010.11:g.69248549A>T	ExAC,gnomAD
rs267602560	p.Arg467Gln	missense variant	-	NC_000010.11:g.69248558G>A	ExAC,TOPMed,gnomAD
rs375666863	p.Arg467Trp	missense variant	-	NC_000010.11:g.69248557C>T	ESP,ExAC,TOPMed,gnomAD
rs200770622	p.Lys468Glu	missense variant	-	NC_000010.11:g.69248560A>G	ESP,ExAC,TOPMed,gnomAD
rs763854751	p.Gln469Glu	missense variant	-	NC_000010.11:g.69248563C>G	ExAC,gnomAD
rs753529321	p.Ile470Phe	missense variant	-	NC_000010.11:g.69248566A>T	ExAC,gnomAD
rs756934111	p.Ile470Thr	missense variant	-	NC_000010.11:g.69248567T>C	ExAC,gnomAD
rs753529321	p.Ile470Val	missense variant	-	NC_000010.11:g.69248566A>G	ExAC,gnomAD
rs778487213	p.Ile470Met	missense variant	-	NC_000010.11:g.69248568C>G	ExAC,TOPMed,gnomAD
rs375135631	p.Asp471Asn	missense variant	-	NC_000010.11:g.69248569G>A	ESP,ExAC,TOPMed,gnomAD
rs375135631	p.Asp471His	missense variant	-	NC_000010.11:g.69248569G>C	ESP,ExAC,TOPMed,gnomAD
COSM3790907	p.Arg472Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69248573G>A	NCI-TCGA Cosmic
rs1189368952	p.Val473Met	missense variant	-	NC_000010.11:g.69248575G>A	TOPMed,gnomAD
rs1189368952	p.Val473Leu	missense variant	-	NC_000010.11:g.69248575G>C	TOPMed,gnomAD
rs780674828	p.Val473Gly	missense variant	-	NC_000010.11:g.69248576T>G	ExAC,TOPMed,gnomAD
rs1474413529	p.Leu476Val	missense variant	-	NC_000010.11:g.69248584T>G	gnomAD
rs769189242	p.Thr480Ile	missense variant	-	NC_000010.11:g.69248597C>T	ExAC,gnomAD
rs765701295	p.Arg481Gln	missense variant	-	NC_000010.11:g.69248600G>A	ExAC,TOPMed,gnomAD
rs1043037706	p.Arg481Ter	stop gained	-	NC_000010.11:g.69248599C>T	TOPMed,gnomAD
rs1043037706	p.Arg481Gly	missense variant	-	NC_000010.11:g.69248599C>G	TOPMed,gnomAD
rs1317086270	p.Glu482Asp	missense variant	-	NC_000010.11:g.69248604G>T	TOPMed,gnomAD
rs368039982	p.Gln483Leu	missense variant	-	NC_000010.11:g.69248606A>T	ESP,ExAC,gnomAD
rs773242941	p.Val485Leu	missense variant	-	NC_000010.11:g.69248611G>T	ExAC,TOPMed,gnomAD
rs773242941	p.Val485Met	missense variant	-	NC_000010.11:g.69248611G>A	ExAC,TOPMed,gnomAD
rs763161756	p.Val485Glu	missense variant	-	NC_000010.11:g.69248612T>A	ExAC,gnomAD
rs534744139	p.Val487Met	missense variant	-	NC_000010.11:g.69248617G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs139514075	p.Gln488Glu	missense variant	-	NC_000010.11:g.69248620C>G	1000Genomes,ExAC,gnomAD
rs201031526	p.Gln488Arg	missense variant	-	NC_000010.11:g.69248621A>G	1000Genomes,ExAC,gnomAD
rs753655337	p.Ala489Thr	missense variant	-	NC_000010.11:g.69248623G>A	ExAC,gnomAD
rs1445312180	p.Ala489Val	missense variant	-	NC_000010.11:g.69248624C>T	gnomAD
rs1223675914	p.Lys490Asn	missense variant	-	NC_000010.11:g.69248628G>T	gnomAD
rs756987165	p.Lys490Thr	missense variant	-	NC_000010.11:g.69248627A>C	ExAC
rs1460166946	p.Met491Val	missense variant	-	NC_000010.11:g.69248629A>G	TOPMed
rs764872830	p.Met491Lys	missense variant	-	NC_000010.11:g.69248630T>A	ExAC,gnomAD
rs377028089	p.Arg492Trp	missense variant	-	NC_000010.11:g.69248632C>T	ESP,ExAC,TOPMed,gnomAD
rs200556069	p.Arg492Gln	missense variant	-	NC_000010.11:g.69248633G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200556069	p.Arg492Leu	missense variant	-	NC_000010.11:g.69248633G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1413880135	p.Ala493Thr	missense variant	-	NC_000010.11:g.69248635G>A	gnomAD
NCI-TCGA novel	p.Glu494Lys	missense variant	-	NC_000010.11:g.69248638G>A	NCI-TCGA
COSM1470408	p.Glu496Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69248645A>G	NCI-TCGA Cosmic
rs372262791	p.Tyr497Cys	missense variant	-	NC_000010.11:g.69248648A>G	ESP,ExAC,gnomAD
rs1238974356	p.Gly498Arg	missense variant	-	NC_000010.11:g.69248650G>C	TOPMed
rs147653919	p.Lys500Glu	missense variant	-	NC_000010.11:g.69248656A>G	ESP,ExAC,TOPMed,gnomAD
rs1380176374	p.Lys501Ter	stop gained	-	NC_000010.11:g.69248659A>T	TOPMed
rs1333095784	p.Ser503Ile	missense variant	-	NC_000010.11:g.69248666G>T	TOPMed
rs376743885	p.Gly505Arg	missense variant	-	NC_000010.11:g.69248671G>A	ESP,ExAC,TOPMed,gnomAD
rs773543962	p.Thr508Lys	missense variant	-	NC_000010.11:g.69248681C>A	ExAC,TOPMed,gnomAD
rs773543962	p.Thr508Met	missense variant	-	NC_000010.11:g.69248681C>T	ExAC,TOPMed,gnomAD
rs1240067496	p.Val509Phe	missense variant	-	NC_000010.11:g.69248683G>T	gnomAD
rs1348643926	p.Met511Ile	missense variant	-	NC_000010.11:g.69248691G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Leu512Arg	missense variant	-	NC_000010.11:g.69248693T>G	NCI-TCGA
rs1490181470	p.Pro513Arg	missense variant	-	NC_000010.11:g.69248696C>G	gnomAD
rs759564040	p.Tyr515His	missense variant	-	NC_000010.11:g.69248701T>C	ExAC,TOPMed,gnomAD
rs776482675	p.Val516Ile	missense variant	-	NC_000010.11:g.69248704G>A	ExAC,TOPMed,gnomAD
rs776482675	p.Val516Leu	missense variant	-	NC_000010.11:g.69248704G>C	ExAC,TOPMed,gnomAD
rs1180665277	p.Cys517Ser	missense variant	-	NC_000010.11:g.69248708G>C	TOPMed,gnomAD
rs372981911	p.Cys517Ter	stop gained	-	NC_000010.11:g.69248709C>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys517Phe	missense variant	-	NC_000010.11:g.69248708G>T	NCI-TCGA
rs764925231	p.Gly518Trp	missense variant	-	NC_000010.11:g.69248710G>T	ExAC,TOPMed,gnomAD
rs764925231	p.Gly518Arg	missense variant	-	NC_000010.11:g.69248710G>C	ExAC,TOPMed,gnomAD
rs764925231	p.Gly518Arg	missense variant	-	NC_000010.11:g.69248710G>A	ExAC,TOPMed,gnomAD
rs750136322	p.Leu519Met	missense variant	-	NC_000010.11:g.69248713C>A	ExAC,gnomAD
rs376726432	p.Pro520Leu	missense variant	-	NC_000010.11:g.69248717C>T	ESP,ExAC,TOPMed,gnomAD
rs754473777	p.Asp521Glu	missense variant	-	NC_000010.11:g.69248721C>A	ExAC,TOPMed,gnomAD
rs754473777	p.Asp521Glu	missense variant	-	NC_000010.11:g.69248721C>G	ExAC,TOPMed,gnomAD
rs1392267673	p.Gly522Val	missense variant	-	NC_000010.11:g.69248723G>T	TOPMed,gnomAD
rs1392267673	p.Gly522Ala	missense variant	-	NC_000010.11:g.69248723G>C	TOPMed,gnomAD
rs752071876	p.Gly522Ser	missense variant	-	NC_000010.11:g.69248722G>A	ExAC,TOPMed,gnomAD
rs1328583896	p.Thr523Ala	missense variant	-	NC_000010.11:g.69248725A>G	gnomAD
rs779068295	p.Gly526Arg	missense variant	-	NC_000010.11:g.69250295G>A	ExAC,gnomAD
rs779068295	p.Gly526Ter	stop gained	-	NC_000010.11:g.69250295G>T	ExAC,gnomAD
rs746074967	p.Gly526Val	missense variant	-	NC_000010.11:g.69250296G>T	ExAC,gnomAD
COSM1702584	p.Gly526Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69250296G>A	NCI-TCGA Cosmic
rs780073962	p.Lys527Asn	missense variant	-	NC_000010.11:g.69250300G>T	ExAC,TOPMed,gnomAD
rs772185046	p.Lys527Met	missense variant	-	NC_000010.11:g.69250299A>T	ExAC,gnomAD
rs1385699916	p.Phe528Leu	missense variant	-	NC_000010.11:g.69250303T>A	gnomAD
rs747047588	p.Phe528Ser	missense variant	-	NC_000010.11:g.69250302T>C	ExAC,TOPMed,gnomAD
rs762726993	p.Ala530Val	missense variant	-	NC_000010.11:g.69250308C>T	ExAC,gnomAD
rs148336562	p.Ala530Thr	missense variant	-	NC_000010.11:g.69250307G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs560169262	p.Asp532Asn	missense variant	-	NC_000010.11:g.69250313G>A	1000Genomes,ExAC,gnomAD
COSM4391559	p.Leu533Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69250316C>T	NCI-TCGA Cosmic
rs1321017840	p.Gly535Arg	missense variant	-	NC_000010.11:g.69250322G>A	gnomAD
rs138845753	p.Gly535Glu	missense variant	-	NC_000010.11:g.69250323G>A	ESP,ExAC,TOPMed,gnomAD
rs138845753	p.Gly535Val	missense variant	-	NC_000010.11:g.69250323G>T	ESP,ExAC,TOPMed,gnomAD
rs1260839996	p.Thr536Ile	missense variant	-	NC_000010.11:g.69250326C>T	gnomAD
rs1485224175	p.Phe538Ile	missense variant	-	NC_000010.11:g.69250331T>A	gnomAD
rs370167561	p.Arg539Trp	missense variant	-	NC_000010.11:g.69250334C>T	ESP,ExAC,gnomAD
rs767239363	p.Arg539Gln	missense variant	-	NC_000010.11:g.69250335G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val543Gly	missense variant	-	NC_000010.11:g.69250347T>G	NCI-TCGA
rs141879185	p.Lys544Arg	missense variant	-	NC_000010.11:g.69250350A>G	ESP,gnomAD
rs1349588624	p.Ile545Met	missense variant	-	NC_000010.11:g.69250354C>G	TOPMed
rs1479592624	p.Arg546Ser	missense variant	-	NC_000010.11:g.69250357A>C	gnomAD
rs529122720	p.Ser547Gly	missense variant	-	NC_000010.11:g.69250358A>G	1000Genomes,ExAC,gnomAD
rs1345864786	p.Ser547Asn	missense variant	-	NC_000010.11:g.69250359G>A	gnomAD
rs764512946	p.Arg549Gln	missense variant	-	NC_000010.11:g.69250365G>A	ExAC,TOPMed,gnomAD
rs764512946	p.Arg549Leu	missense variant	-	NC_000010.11:g.69250365G>T	ExAC,TOPMed,gnomAD
rs746802271	p.Arg549Trp	missense variant	-	NC_000010.11:g.69250364C>T	ExAC,gnomAD
rs1405447795	p.Ser551Ala	missense variant	-	NC_000010.11:g.69250370T>G	gnomAD
rs765561288	p.Val552Met	missense variant	-	NC_000010.11:g.69250373G>A	ExAC,gnomAD
rs1292401204	p.Val552Glu	missense variant	-	NC_000010.11:g.69250374T>A	TOPMed
rs200078170	p.Arg553Gly	missense variant	-	NC_000010.11:g.69250376C>G	ExAC,TOPMed,gnomAD
rs200643468	p.Arg553Gln	missense variant	-	NC_000010.11:g.69250377G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200078170	p.Arg553Ter	stop gained	-	NC_000010.11:g.69250376C>T	ExAC,TOPMed,gnomAD
rs1307197415	p.Met554Thr	missense variant	-	NC_000010.11:g.69250380T>C	gnomAD
rs1381721567	p.Met554Ile	missense variant	-	NC_000010.11:g.69250381G>A	TOPMed
rs1296462114	p.Met554Val	missense variant	-	NC_000010.11:g.69250379A>G	TOPMed
rs1386027991	p.Tyr555His	missense variant	-	NC_000010.11:g.69250382T>C	TOPMed
rs747067339	p.Lys557Asn	missense variant	-	NC_000010.11:g.69250390G>C	ExAC,TOPMed,gnomAD
rs755086158	p.Ile558Val	missense variant	-	NC_000010.11:g.69250391A>G	ExAC,TOPMed,gnomAD
rs150227380	p.Ala560Ser	missense variant	-	NC_000010.11:g.69250397G>T	ESP,ExAC,TOPMed,gnomAD
rs1489942505	p.Ala560Val	missense variant	-	NC_000010.11:g.69250398C>T	gnomAD
rs150227380	p.Ala560Thr	missense variant	-	NC_000010.11:g.69250397G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala560Asp	missense variant	-	NC_000010.11:g.69250398C>A	NCI-TCGA
rs1418714598	p.Pro562Leu	missense variant	-	NC_000010.11:g.69250404C>T	TOPMed,gnomAD
rs1418714598	p.Pro562Arg	missense variant	-	NC_000010.11:g.69250404C>G	TOPMed,gnomAD
rs771865443	p.Leu563Pro	missense variant	-	NC_000010.11:g.69250407T>C	ExAC,gnomAD
rs374796484	p.Leu563Met	missense variant	-	NC_000010.11:g.69250406C>A	ESP,ExAC,TOPMed,gnomAD
rs760168887	p.Glu564Lys	missense variant	-	NC_000010.11:g.69250409G>A	ExAC,gnomAD
rs763645384	p.Glu564Ala	missense variant	-	NC_000010.11:g.69250410A>C	ExAC,gnomAD
rs1372210240	p.Met566Leu	missense variant	-	NC_000010.11:g.69250415A>C	gnomAD
rs1035579504	p.Met566Ile	missense variant	-	NC_000010.11:g.69250417G>T	TOPMed
NCI-TCGA novel	p.Met566Ile	missense variant	-	NC_000010.11:g.69250417G>A	NCI-TCGA
rs1389301509	p.Gln567Ter	stop gained	-	NC_000010.11:g.69250418C>T	gnomAD
rs777052195	p.Gly568Asp	missense variant	-	NC_000010.11:g.69250422G>A	ExAC,gnomAD
rs1353757828	p.Gly568Arg	missense variant	-	NC_000010.11:g.69250421G>C	TOPMed
rs1247351716	p.Thr569Ala	missense variant	-	NC_000010.11:g.69250424A>G	gnomAD
rs370637464	p.Gly570Asp	missense variant	-	NC_000010.11:g.69250428G>A	ESP,ExAC,gnomAD
rs1476365580	p.Leu573His	missense variant	-	NC_000010.11:g.69250534T>A	TOPMed,gnomAD
rs1241335196	p.Leu573Phe	missense variant	-	NC_000010.11:g.69250533C>T	gnomAD
rs1476365580	p.Leu573Pro	missense variant	-	NC_000010.11:g.69250534T>C	TOPMed,gnomAD
rs1179731003	p.Asp575Asn	missense variant	-	NC_000010.11:g.69250539G>A	gnomAD
rs756197277	p.Asp575Gly	missense variant	-	NC_000010.11:g.69250540A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp575His	missense variant	-	NC_000010.11:g.69250539G>C	NCI-TCGA
rs779060687	p.His576Asp	missense variant	-	NC_000010.11:g.69250542C>G	ExAC,TOPMed,gnomAD
rs779060687	p.His576Tyr	missense variant	-	NC_000010.11:g.69250542C>T	ExAC,TOPMed,gnomAD
rs78616372	p.Ile577Leu	missense variant	-	NC_000010.11:g.69250545A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs779866372	p.Val578Met	missense variant	-	NC_000010.11:g.69250548G>A	ExAC,gnomAD
rs746738258	p.Cys580Tyr	missense variant	-	NC_000010.11:g.69250555G>A	ExAC,gnomAD
rs780647583	p.Ala582Thr	missense variant	-	NC_000010.11:g.69250560G>A	ExAC,TOPMed,gnomAD
rs780647583	p.Ala582Ser	missense variant	-	NC_000010.11:g.69250560G>T	ExAC,TOPMed,gnomAD
rs780647583	p.Ala582Pro	missense variant	-	NC_000010.11:g.69250560G>C	ExAC,TOPMed,gnomAD
rs373673344	p.Asp583Asn	missense variant	-	NC_000010.11:g.69250563G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1438368330	p.Asp586Asn	missense variant	-	NC_000010.11:g.69250572G>A	TOPMed
rs774803161	p.Met588Val	missense variant	-	NC_000010.11:g.69250578A>G	ExAC,TOPMed,gnomAD
rs774803161	p.Met588Leu	missense variant	-	NC_000010.11:g.69250578A>C	ExAC,TOPMed,gnomAD
rs201004644	p.Met588Ile	missense variant	-	NC_000010.11:g.69250580G>T	1000Genomes,ExAC,gnomAD
rs201004644	p.Met588Ile	missense variant	-	NC_000010.11:g.69250580G>C	1000Genomes,ExAC,gnomAD
rs767785660	p.Gly589Ser	missense variant	-	NC_000010.11:g.69250581G>A	ExAC,TOPMed
rs376814835	p.Lys591Gln	missense variant	-	NC_000010.11:g.69250587A>C	ESP,ExAC,TOPMed,gnomAD
rs376814835	p.Lys591Glu	missense variant	-	NC_000010.11:g.69250587A>G	ESP,ExAC,TOPMed,gnomAD
rs764245820	p.Lys591Arg	missense variant	-	NC_000010.11:g.69250588A>G	ExAC,gnomAD
rs1281077679	p.Gly592Glu	missense variant	-	NC_000010.11:g.69250591G>A	TOPMed
NCI-TCGA novel	p.Ala593Gly	missense variant	-	NC_000010.11:g.69250594C>G	NCI-TCGA
rs1236798116	p.Leu595Gln	missense variant	-	NC_000010.11:g.69250600T>A	TOPMed
rs200097243	p.Pro596His	missense variant	-	NC_000010.11:g.69250603C>A	1000Genomes
rs758437645	p.Gly598Cys	missense variant	-	NC_000010.11:g.69250608G>T	ExAC,gnomAD
rs779803676	p.Thr600Ser	missense variant	-	NC_000010.11:g.69250614A>T	ExAC,TOPMed,gnomAD
rs755664551	p.Pro604Ser	missense variant	-	NC_000010.11:g.69250626C>T	ExAC,TOPMed,gnomAD
rs902495899	p.Cys605Phe	missense variant	-	NC_000010.11:g.69250630G>T	TOPMed,gnomAD
rs777299110	p.Cys605Ser	missense variant	-	NC_000010.11:g.69250629T>A	ExAC,TOPMed,gnomAD
rs777299110	p.Cys605Gly	missense variant	-	NC_000010.11:g.69250629T>G	ExAC,TOPMed,gnomAD
rs902495899	p.Cys605Tyr	missense variant	-	NC_000010.11:g.69250630G>A	TOPMed,gnomAD
rs1409532587	p.Arg606Gly	missense variant	-	NC_000010.11:g.69250632A>G	gnomAD
rs1400723259	p.Gln607Pro	missense variant	-	NC_000010.11:g.69250636A>C	gnomAD
COSM3439963	p.Met608Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69250640G>A	NCI-TCGA Cosmic
rs748748783	p.Ser609Gly	missense variant	-	NC_000010.11:g.69250641A>G	ExAC,gnomAD
rs748748783	p.Ser609Arg	missense variant	-	NC_000010.11:g.69250641A>C	ExAC,gnomAD
rs774656516	p.Ser609Asn	missense variant	-	NC_000010.11:g.69250642G>A	ExAC,gnomAD
rs746312049	p.Asp611Asn	missense variant	-	NC_000010.11:g.69250647G>A	ExAC,gnomAD
rs200080595	p.Lys612Arg	missense variant	-	NC_000010.11:g.69250651A>G	ESP,ExAC,TOPMed,gnomAD
rs756719016	p.Ile616Thr	missense variant	-	NC_000010.11:g.69257046T>C	ExAC,TOPMed,gnomAD
rs1358623011	p.Ile616Leu	missense variant	-	NC_000010.11:g.69257045A>T	gnomAD
rs756719016	p.Ile616Arg	missense variant	-	NC_000010.11:g.69257046T>G	ExAC,TOPMed,gnomAD
rs779530620	p.Gly617Ala	missense variant	-	NC_000010.11:g.69257049G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly617Trp	missense variant	-	NC_000010.11:g.69257048G>T	NCI-TCGA
rs1438073787	p.Thr619Ile	missense variant	-	NC_000010.11:g.69257055C>T	gnomAD
rs772526820	p.Gly621Cys	missense variant	-	NC_000010.11:g.69257060G>T	ExAC,TOPMed,gnomAD
rs772526820	p.Gly621Ser	missense variant	-	NC_000010.11:g.69257060G>A	ExAC,TOPMed,gnomAD
rs1445861509	p.Phe622Leu	missense variant	-	NC_000010.11:g.69257065C>A	gnomAD
rs1183656688	p.Lys623Arg	missense variant	-	NC_000010.11:g.69257067A>G	TOPMed,gnomAD
rs776027362	p.Asp626Gly	missense variant	-	NC_000010.11:g.69257076A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp626Val	missense variant	-	NC_000010.11:g.69257076A>T	NCI-TCGA
rs747325226	p.Cys627Ser	missense variant	-	NC_000010.11:g.69257078T>A	ExAC,TOPMed,gnomAD
rs202190629	p.Gly629Arg	missense variant	-	NC_000010.11:g.69257084G>A	1000Genomes,ExAC,gnomAD
rs377379406	p.Asp631Glu	missense variant	-	NC_000010.11:g.69257092C>A	ESP,ExAC,TOPMed,gnomAD
rs201377991	p.Asp631Gly	missense variant	-	NC_000010.11:g.69257091A>G	ExAC,TOPMed,gnomAD
rs146301899	p.Val632Leu	missense variant	-	NC_000010.11:g.69257093G>T	ESP,ExAC,TOPMed,gnomAD
rs146301899	p.Val632Met	missense variant	-	NC_000010.11:g.69257093G>A	ESP,ExAC,TOPMed,gnomAD
rs758513369	p.Asp634Glu	missense variant	-	NC_000010.11:g.69257101C>A	gnomAD
rs767444271	p.Asp634His	missense variant	-	NC_000010.11:g.69257099G>C	ExAC
rs1050395054	p.Asp634Ala	missense variant	-	NC_000010.11:g.69257100A>C	TOPMed
rs1176260970	p.Met635Val	missense variant	-	NC_000010.11:g.69257102A>G	TOPMed
rs1252890656	p.Lys641Gln	missense variant	-	NC_000010.11:g.69257120A>C	gnomAD
rs753476396	p.Lys641Arg	missense variant	-	NC_000010.11:g.69257121A>G	ExAC,gnomAD
rs756838683	p.Arg642Lys	missense variant	-	NC_000010.11:g.69257124G>A	ExAC,gnomAD
rs367790898	p.Asn644Lys	missense variant	-	NC_000010.11:g.69257131C>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn644His	missense variant	-	NC_000010.11:g.69257129A>C	NCI-TCGA
rs1260757747	p.Glu645Val	missense variant	-	NC_000010.11:g.69257328A>T	TOPMed
rs1214723540	p.Phe646Tyr	missense variant	-	NC_000010.11:g.69257331T>A	TOPMed
rs748500904	p.Phe646Leu	missense variant	-	NC_000010.11:g.69257330T>C	ExAC,gnomAD
rs1282176124	p.Asp647Asn	missense variant	-	NC_000010.11:g.69257333G>A	gnomAD
rs1310056094	p.Leu648Val	missense variant	-	NC_000010.11:g.69257336C>G	gnomAD
rs1240641805	p.Leu648Pro	missense variant	-	NC_000010.11:g.69257337T>C	gnomAD
rs749394532	p.Ala652Val	missense variant	-	NC_000010.11:g.69257349C>T	ExAC,gnomAD
rs770987104	p.Val653Ile	missense variant	-	NC_000010.11:g.69257351G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val653Ala	missense variant	-	NC_000010.11:g.69257352T>C	NCI-TCGA
rs772860598	p.Val654Leu	missense variant	-	NC_000010.11:g.69257354G>T	ExAC,TOPMed,gnomAD
rs772860598	p.Val654Met	missense variant	-	NC_000010.11:g.69257354G>A	ExAC,TOPMed,gnomAD
rs202109020	p.Asp656Asn	missense variant	-	NC_000010.11:g.69257360G>A	ExAC,TOPMed,gnomAD
rs761610733	p.Asp656Val	missense variant	-	NC_000010.11:g.69257361A>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp656Gly	missense variant	-	NC_000010.11:g.69257361A>G	NCI-TCGA
rs764798395	p.Thr657Ala	missense variant	-	NC_000010.11:g.69257363A>G	ExAC,gnomAD
rs1364406534	p.Val658Met	missense variant	-	NC_000010.11:g.69257366G>A	gnomAD
COSM4015353	p.Thr660Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69257372A>G	NCI-TCGA Cosmic
rs536595188	p.Met661Thr	missense variant	-	NC_000010.11:g.69257376T>C	1000Genomes
rs1367220430	p.Met661Ile	missense variant	-	NC_000010.11:g.69257377G>A	gnomAD
rs1156693801	p.Met661Val	missense variant	-	NC_000010.11:g.69257375A>G	gnomAD
NCI-TCGA novel	p.Met662Thr	missense variant	-	NC_000010.11:g.69257379T>C	NCI-TCGA
rs762606952	p.Thr663Ser	missense variant	-	NC_000010.11:g.69257381A>T	ExAC,gnomAD
rs1438227545	p.Cys664Phe	missense variant	-	NC_000010.11:g.69257385G>T	TOPMed,gnomAD
rs1365096708	p.Gly665Cys	missense variant	-	NC_000010.11:g.69257387G>T	gnomAD
rs1026731538	p.Glu667Lys	missense variant	-	NC_000010.11:g.69257393G>A	gnomAD
rs1240083523	p.Asp668Tyr	missense variant	-	NC_000010.11:g.69257396G>T	gnomAD
NCI-TCGA novel	p.Pro669Ser	missense variant	-	NC_000010.11:g.69257399C>T	NCI-TCGA
rs1431862550	p.Asn670Ser	missense variant	-	NC_000010.11:g.69257403A>G	TOPMed
rs1284579175	p.Glu672Gly	missense variant	-	NC_000010.11:g.69257409A>G	gnomAD
rs371588891	p.Ile673Thr	missense variant	-	NC_000010.11:g.69257412T>C	ESP,ExAC,gnomAD
rs751076735	p.Ile673Val	missense variant	-	NC_000010.11:g.69257411A>G	ExAC,TOPMed,gnomAD
rs143074395	p.Leu675Met	missense variant	-	NC_000010.11:g.69257417C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala677Pro	missense variant	-	NC_000010.11:g.69257423G>C	NCI-TCGA
NCI-TCGA novel	p.Gly678Glu	missense variant	-	NC_000010.11:g.69258776G>A	NCI-TCGA
rs1457478727	p.Thr679Ala	missense variant	-	NC_000010.11:g.69258778A>G	gnomAD
rs1258241189	p.Thr679Ile	missense variant	-	NC_000010.11:g.69258779C>T	TOPMed
rs527900343	p.Gly680Asp	missense variant	-	NC_000010.11:g.69258782G>A	1000Genomes
rs1445201241	p.Met683Ile	missense variant	-	NC_000010.11:g.69258792G>T	gnomAD
rs762729234	p.Met683Val	missense variant	-	NC_000010.11:g.69258790A>G	ExAC,gnomAD
COSM919895	p.Cys684Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.69258795C>A	NCI-TCGA Cosmic
rs1283196836	p.Met686Val	missense variant	-	NC_000010.11:g.69258799A>G	TOPMed
rs766083406	p.Glu687Asp	missense variant	-	NC_000010.11:g.69258804G>C	ExAC,gnomAD
rs1330694702	p.Met689Ile	missense variant	-	NC_000010.11:g.69258810G>A	TOPMed
rs148777877	p.Met689Leu	missense variant	-	NC_000010.11:g.69258808A>T	ESP,ExAC,TOPMed,gnomAD
rs1291225988	p.Asn691Ser	missense variant	-	NC_000010.11:g.69258815A>G	TOPMed
rs142106143	p.Ile692Leu	missense variant	-	NC_000010.11:g.69258817A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142106143	p.Ile692Phe	missense variant	-	NC_000010.11:g.69258817A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM4015354	p.Ile692Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69258818T>C	NCI-TCGA Cosmic
rs753235874	p.Glu693Lys	missense variant	-	NC_000010.11:g.69258820G>A	ExAC,TOPMed,gnomAD
rs1344680370	p.Met694Ile	missense variant	-	NC_000010.11:g.69258825G>A	TOPMed
rs1338162638	p.Met694Leu	missense variant	-	NC_000010.11:g.69258823A>T	TOPMed,gnomAD
rs1406123443	p.Glu696Lys	missense variant	-	NC_000010.11:g.69258829G>A	gnomAD
rs569608023	p.Glu696Asp	missense variant	-	NC_000010.11:g.69258831G>C	1000Genomes,ExAC,gnomAD
rs151179698	p.Gly697Ala	missense variant	-	NC_000010.11:g.69258833G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754159524	p.Gly697Trp	missense variant	-	NC_000010.11:g.69258832G>T	ExAC,TOPMed,gnomAD
rs754159524	p.Gly697Arg	missense variant	-	NC_000010.11:g.69258832G>A	ExAC,TOPMed,gnomAD
rs151179698	p.Gly697Glu	missense variant	-	NC_000010.11:g.69258833G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs151179698	p.Gly697Val	missense variant	-	NC_000010.11:g.69258833G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754159524	p.Gly697Arg	missense variant	-	NC_000010.11:g.69258832G>C	ExAC,TOPMed,gnomAD
rs781046015	p.Gly698Val	missense variant	-	NC_000010.11:g.69258836G>T	ExAC,TOPMed,gnomAD
rs781046015	p.Gly698Asp	missense variant	-	NC_000010.11:g.69258836G>A	ExAC,TOPMed,gnomAD
rs775187652	p.Gly698Arg	missense variant	-	NC_000010.11:g.69258835G>C	TOPMed,gnomAD
rs771959819	p.Gly698ValPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.69258831G>-	NCI-TCGA
NCI-TCGA novel	p.Lys701Asn	missense variant	-	NC_000010.11:g.69258846G>T	NCI-TCGA
rs1241021187	p.Met702Ile	missense variant	-	NC_000010.11:g.69258849G>A	TOPMed
rs776199223	p.Asn705Ser	missense variant	-	NC_000010.11:g.69258857A>G	ExAC,TOPMed,gnomAD
COSM1348782	p.Glu707Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69258862G>A	NCI-TCGA Cosmic
rs773083853	p.Trp708Leu	missense variant	-	NC_000010.11:g.69258866G>T	ExAC
rs368474740	p.Gly710Glu	missense variant	-	NC_000010.11:g.69258872G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774145826	p.Phe711Tyr	missense variant	-	NC_000010.11:g.69258875T>A	ExAC,TOPMed,gnomAD
rs1336899989	p.Asp713Asn	missense variant	-	NC_000010.11:g.69258880G>A	TOPMed,gnomAD
rs139032585	p.Asn714Ser	missense variant	-	NC_000010.11:g.69258884A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1476652683	p.Gly715Asp	missense variant	-	NC_000010.11:g.69258887G>A	gnomAD
rs761277627	p.Cys716Tyr	missense variant	-	NC_000010.11:g.69258890G>A	ExAC,gnomAD
rs200454007	p.Ile717Thr	missense variant	-	NC_000010.11:g.69258893T>C	ExAC,TOPMed,gnomAD
rs1413465327	p.Ile717Val	missense variant	-	NC_000010.11:g.69258892A>G	TOPMed,gnomAD
rs1056308077	p.Asp718Glu	missense variant	-	NC_000010.11:g.69258897T>A	gnomAD
COSM919896	p.Asp718Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69258895G>T	NCI-TCGA Cosmic
rs1433475605	p.Asp719Tyr	missense variant	-	NC_000010.11:g.69258898G>T	gnomAD
rs199869181	p.Ile720Val	missense variant	-	NC_000010.11:g.69258901A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1111335	p.Trp721Arg	missense variant	-	NC_000010.11:g.69258904T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1111335	p.Trp721Arg	missense variant	-	NC_000010.11:g.69258904T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147565138	p.Trp721Ter	stop gained	-	NC_000010.11:g.69258906G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs548848365	p.Trp721Ter	stop gained	-	NC_000010.11:g.69258905G>A	ExAC,TOPMed,gnomAD
rs757311620	p.Thr722Ser	missense variant	-	NC_000010.11:g.69258907A>T	TOPMed,gnomAD
rs777790533	p.Arg723Gln	missense variant	-	NC_000010.11:g.69258911G>A	ExAC,TOPMed,gnomAD
rs751546379	p.Arg723Ter	stop gained	-	NC_000010.11:g.69258910C>T	ExAC,TOPMed,gnomAD
rs1201295597	p.Asp725Asn	missense variant	-	NC_000010.11:g.69258916G>A	TOPMed,gnomAD
rs770837285	p.Thr726Met	missense variant	-	NC_000010.11:g.69258920C>T	ExAC,TOPMed,gnomAD
rs1170346556	p.Glu727Asp	missense variant	-	NC_000010.11:g.69258924G>T	gnomAD
rs1409469838	p.Asp729Gly	missense variant	-	NC_000010.11:g.69258929A>G	gnomAD
rs1159722276	p.Gly731Val	missense variant	-	NC_000010.11:g.69258935G>T	gnomAD
rs775085562	p.Leu733Val	missense variant	-	NC_000010.11:g.69258940T>G	ExAC,TOPMed,gnomAD
rs1331953420	p.Asn734Ser	missense variant	-	NC_000010.11:g.69258944A>G	gnomAD
rs941849531	p.Gly736Ser	missense variant	-	NC_000010.11:g.69258949G>A	TOPMed
rs144539995	p.Gln738Arg	missense variant	-	NC_000010.11:g.69258956A>G	ESP,ExAC,gnomAD
rs144539995	p.Gln738Leu	missense variant	-	NC_000010.11:g.69258956A>T	ESP,ExAC,gnomAD
rs779802342	p.Tyr740Asn	missense variant	-	NC_000010.11:g.69261140T>A	ExAC,TOPMed,gnomAD
rs779802342	p.Tyr740His	missense variant	-	NC_000010.11:g.69261140T>C	ExAC,TOPMed,gnomAD
rs773583335	p.Glu741Lys	missense variant	-	NC_000010.11:g.69261143G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu741Asp	missense variant	-	NC_000010.11:g.69261145G>T	NCI-TCGA
rs763163389	p.Thr744Asn	missense variant	-	NC_000010.11:g.69261153C>A	ExAC,gnomAD
rs766694166	p.Met747Ile	missense variant	-	NC_000010.11:g.69261163G>A	ExAC,gnomAD
rs373020719	p.Tyr748Ser	missense variant	-	NC_000010.11:g.69261165A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1267492019	p.Tyr748Asp	missense variant	-	NC_000010.11:g.69261164T>G	gnomAD
rs759710449	p.Tyr748Ter	stop gained	-	NC_000010.11:g.69261166C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly750Glu	missense variant	-	NC_000010.11:g.69261171G>A	NCI-TCGA
rs752785416	p.Glu751Asp	missense variant	-	NC_000010.11:g.69261175G>C	ExAC,gnomAD
rs752785416	p.Glu751Asp	missense variant	-	NC_000010.11:g.69261175G>T	ExAC,gnomAD
rs769074895	p.Ile752Thr	missense variant	-	NC_000010.11:g.69261177T>C	TOPMed,gnomAD
rs148886636	p.Ile752Val	missense variant	-	NC_000010.11:g.69261176A>G	ESP,ExAC,TOPMed,gnomAD
rs750234658	p.Ile752Met	missense variant	-	NC_000010.11:g.69261178T>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile752Ser	missense variant	-	NC_000010.11:g.69261177T>G	NCI-TCGA
rs892144948	p.Val753Leu	missense variant	-	NC_000010.11:g.69261179G>C	TOPMed
rs758122815	p.Arg754Trp	missense variant	-	NC_000010.11:g.69261182C>T	ExAC,TOPMed,gnomAD
rs765088532	p.Arg754Gln	missense variant	-	NC_000010.11:g.69261183G>A	gnomAD
rs372986223	p.Gln755His	missense variant	-	NC_000010.11:g.69261187G>T	ESP,ExAC,TOPMed,gnomAD
rs1318185771	p.Ile756Phe	missense variant	-	NC_000010.11:g.69261188A>T	gnomAD
rs1000573971	p.Asp759Asn	missense variant	-	NC_000010.11:g.69261197G>A	TOPMed,gnomAD
rs780708097	p.Leu760Val	missense variant	-	NC_000010.11:g.69261200C>G	ExAC,gnomAD
rs374480280	p.Thr761Ser	missense variant	-	NC_000010.11:g.69261204C>G	ESP,ExAC,TOPMed,gnomAD
rs1170708816	p.Thr761Ser	missense variant	-	NC_000010.11:g.69261203A>T	TOPMed
rs770292279	p.Gln763Pro	missense variant	-	NC_000010.11:g.69261210A>C	ExAC,gnomAD
rs770292279	p.Gln763Arg	missense variant	-	NC_000010.11:g.69261210A>G	ExAC,gnomAD
rs1478288633	p.Gly764Ala	missense variant	-	NC_000010.11:g.69261213G>C	gnomAD
rs749723837	p.Gly764Cys	missense variant	-	NC_000010.11:g.69261212G>T	ExAC,TOPMed,gnomAD
rs749723837	p.Gly764Ser	missense variant	-	NC_000010.11:g.69261212G>A	ExAC,TOPMed,gnomAD
rs771181933	p.Leu765Phe	missense variant	-	NC_000010.11:g.69261215C>T	ExAC,gnomAD
rs771181933	p.Leu765Ile	missense variant	-	NC_000010.11:g.69261215C>A	ExAC,gnomAD
COSM1297391	p.Leu765Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69261215C>G	NCI-TCGA Cosmic
rs1034371933	p.Leu766Phe	missense variant	-	NC_000010.11:g.69261218C>T	-
rs774217376	p.Arg768Pro	missense variant	-	NC_000010.11:g.69261225G>C	gnomAD
rs774217376	p.Arg768Gln	missense variant	-	NC_000010.11:g.69261225G>A	gnomAD
rs759709025	p.Arg768Ter	stop gained	-	NC_000010.11:g.69261224C>T	ExAC,TOPMed,gnomAD
RCV000755128	p.Arg768Ter	nonsense	Nonsyndromic cleft lip palate	NC_000010.11:g.69261224C>T	ClinVar
NCI-TCGA novel	p.Gly769Glu	missense variant	-	NC_000010.11:g.69261228G>A	NCI-TCGA
rs775728498	p.Gln770Arg	missense variant	-	NC_000010.11:g.69261231A>G	ExAC,gnomAD
rs760769044	p.Ile771Thr	missense variant	-	NC_000010.11:g.69261234T>C	ExAC,TOPMed,gnomAD
rs765331356	p.Ser772Leu	missense variant	-	NC_000010.11:g.69261237C>T	ExAC,gnomAD
rs537386563	p.Arg774Ser	missense variant	-	NC_000010.11:g.69261242C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs537386563	p.Arg774Cys	missense variant	-	NC_000010.11:g.69261242C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200095420	p.Arg774His	missense variant	-	NC_000010.11:g.69261243G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs143285779	p.Arg776Trp	missense variant	-	NC_000010.11:g.69261248C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs539633142	p.Arg776Gln	missense variant	-	NC_000010.11:g.69261249G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs553070057	p.Thr777Ile	missense variant	-	NC_000010.11:g.69261252C>T	1000Genomes,ExAC,gnomAD
rs1407536648	p.Arg778Lys	missense variant	-	NC_000010.11:g.69261255G>A	TOPMed
NCI-TCGA novel	p.Gly779Ser	missense variant	-	NC_000010.11:g.69261257G>A	NCI-TCGA
rs778394034	p.Ile780Val	missense variant	-	NC_000010.11:g.69261260A>G	ExAC,gnomAD
rs1463226976	p.Glu782Lys	missense variant	-	NC_000010.11:g.69261266G>A	TOPMed
NCI-TCGA novel	p.Glu782Gln	missense variant	-	NC_000010.11:g.69261266G>C	NCI-TCGA
rs1481529073	p.Thr783Asn	missense variant	-	NC_000010.11:g.69261270C>A	gnomAD
rs1415184709	p.Ser787Tyr	missense variant	-	NC_000010.11:g.69261282C>A	gnomAD
rs1199704681	p.Gln788Arg	missense variant	-	NC_000010.11:g.69261285A>G	gnomAD
rs774603684	p.Ile789Val	missense variant	-	NC_000010.11:g.69261287A>G	ExAC,TOPMed,gnomAD
rs199674269	p.Glu790Lys	missense variant	-	NC_000010.11:g.69261290G>A	ExAC,TOPMed,gnomAD
rs1160171284	p.Ser791Asn	missense variant	-	NC_000010.11:g.69261294G>A	gnomAD
rs200049397	p.Asp792Asn	missense variant	-	NC_000010.11:g.69265586G>A	ExAC,gnomAD
rs200049397	p.Asp792Tyr	missense variant	-	NC_000010.11:g.69265586G>T	ExAC,gnomAD
rs939426664	p.Arg793Gln	missense variant	-	NC_000010.11:g.69265590G>A	TOPMed,gnomAD
rs140614647	p.Arg793Gly	missense variant	-	NC_000010.11:g.69265589C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140614647	p.Arg793Trp	missense variant	-	NC_000010.11:g.69265589C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750940610	p.Ala795Thr	missense variant	-	NC_000010.11:g.69265595G>A	ExAC,gnomAD
rs758869915	p.Ala795Gly	missense variant	-	NC_000010.11:g.69265596C>G	ExAC,gnomAD
rs768772089	p.Leu796Pro	missense variant	-	NC_000010.11:g.69265599T>C	ExAC,gnomAD
rs747327401	p.Leu796Phe	missense variant	-	NC_000010.11:g.69265598C>T	ExAC,gnomAD
rs781406080	p.Gln798His	missense variant	-	NC_000010.11:g.69265606G>C	ExAC,TOPMed,gnomAD
rs1449332162	p.Gln798Arg	missense variant	-	NC_000010.11:g.69265605A>G	gnomAD
rs748236433	p.Val799Ile	missense variant	-	NC_000010.11:g.69265607G>A	ExAC,gnomAD
rs769896723	p.Gln805Glu	missense variant	-	NC_000010.11:g.69265625C>G	ExAC,TOPMed,gnomAD
rs769896723	p.Gln805Lys	missense variant	-	NC_000010.11:g.69265625C>A	ExAC,TOPMed,gnomAD
rs1279145982	p.Leu806Pro	missense variant	-	NC_000010.11:g.69265629T>C	gnomAD
NCI-TCGA novel	p.Leu806Val	missense variant	-	NC_000010.11:g.69265628C>G	NCI-TCGA
rs774312956	p.Gly807Ser	missense variant	-	NC_000010.11:g.69265631G>A	ExAC,TOPMed,gnomAD
rs774312956	p.Gly807Arg	missense variant	-	NC_000010.11:g.69265631G>C	ExAC,TOPMed,gnomAD
COSM4933579	p.Leu808Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69265635T>C	NCI-TCGA Cosmic
rs556646884	p.Thr811Arg	missense variant	-	NC_000010.11:g.69265644C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs556646884	p.Thr811Met	missense variant	-	NC_000010.11:g.69265644C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200523420	p.Cys812Tyr	missense variant	-	NC_000010.11:g.69265647G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs199508356	p.Val817Met	missense variant	-	NC_000010.11:g.69265661G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755019092	p.Val818Met	missense variant	-	NC_000010.11:g.69265664G>A	gnomAD
rs1294446657	p.Glu820Asp	missense variant	-	NC_000010.11:g.69265672G>T	TOPMed
rs373165480	p.Cys822Ter	stop gained	-	NC_000010.11:g.69265678C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs373165480	p.Cys822Trp	missense variant	-	NC_000010.11:g.69265678C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs749908835	p.Gly823Arg	missense variant	-	NC_000010.11:g.69265679G>C	ExAC,gnomAD
rs749908835	p.Gly823Arg	missense variant	-	NC_000010.11:g.69265679G>A	ExAC,gnomAD
rs1425203687	p.Val825Ala	missense variant	-	NC_000010.11:g.69265686T>C	gnomAD
rs766933020	p.Val825Met	missense variant	-	NC_000010.11:g.69265685G>A	ExAC,gnomAD
rs1013856901	p.Ser826Pro	missense variant	-	NC_000010.11:g.69265688T>C	TOPMed
rs138235256	p.Arg827Trp	missense variant	-	NC_000010.11:g.69265691C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755358343	p.Arg827Gln	missense variant	-	NC_000010.11:g.69265692G>A	ExAC,TOPMed,gnomAD
rs755358343	p.Arg827Pro	missense variant	-	NC_000010.11:g.69265692G>C	ExAC,TOPMed,gnomAD
rs367579140	p.Arg828Gln	missense variant	-	NC_000010.11:g.69265695G>A	ESP,ExAC,TOPMed,gnomAD
rs748372161	p.Arg828Trp	missense variant	-	NC_000010.11:g.69265694C>T	ExAC,TOPMed,gnomAD
rs777856618	p.Ala829Val	missense variant	-	NC_000010.11:g.69265698C>T	ExAC,TOPMed,gnomAD
rs1423158593	p.Ala830Ser	missense variant	-	NC_000010.11:g.69265700G>T	TOPMed
rs1398340797	p.Ala830Val	missense variant	-	NC_000010.11:g.69265701C>T	gnomAD
rs775404201	p.Gln831His	missense variant	-	NC_000010.11:g.69265705G>C	ExAC,gnomAD
rs772004903	p.Gln831Lys	missense variant	-	NC_000010.11:g.69265703C>A	ExAC,gnomAD
rs746836005	p.Leu832Phe	missense variant	-	NC_000010.11:g.69265706C>T	ExAC,gnomAD
rs768472931	p.Cys833Ter	stop gained	-	NC_000010.11:g.69265711C>A	ExAC,TOPMed,gnomAD
rs761553657	p.Gly834Ser	missense variant	-	NC_000010.11:g.69265712G>A	ExAC,gnomAD
rs761553657	p.Gly834Arg	missense variant	-	NC_000010.11:g.69265712G>C	ExAC,gnomAD
rs1255489509	p.Gly836Val	missense variant	-	NC_000010.11:g.69265719G>T	TOPMed
NCI-TCGA novel	p.Gly836Cys	missense variant	-	NC_000010.11:g.69265718G>T	NCI-TCGA
rs143037840	p.Ala839Thr	missense variant	-	NC_000010.11:g.69265727G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs752955545	p.Ile840Thr	missense variant	-	NC_000010.11:g.69265731T>C	ExAC,gnomAD
rs372353917	p.Ile840Met	missense variant	-	NC_000010.11:g.69265732A>G	ESP,ExAC,TOPMed,gnomAD
rs767957691	p.Ile840Val	missense variant	-	NC_000010.11:g.69265730A>G	ExAC,gnomAD
rs1442064282	p.Glu842Lys	missense variant	-	NC_000010.11:g.69265736G>A	gnomAD
rs369853003	p.Lys843Thr	missense variant	-	NC_000010.11:g.69265740A>C	ESP,ExAC,TOPMed,gnomAD
rs1298479205	p.Lys843Gln	missense variant	-	NC_000010.11:g.69265739A>C	gnomAD
NCI-TCGA novel	p.Arg844GlyPheSerTerUnk	frameshift	-	NC_000010.11:g.69265737A>-	NCI-TCGA
rs373547937	p.Glu846Asp	missense variant	-	NC_000010.11:g.69265750A>C	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Asp847Asn	missense variant	-	NC_000010.11:g.69265751G>A	NCI-TCGA
rs749440277	p.Gly849Glu	missense variant	-	NC_000010.11:g.69265758G>A	ExAC,gnomAD
COSM3439969	p.Gly849Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69265757G>A	NCI-TCGA Cosmic
rs1371596488	p.Glu851Gly	missense variant	-	NC_000010.11:g.69265764A>G	TOPMed
COSM6066553	p.Glu851Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69265764A>T	NCI-TCGA Cosmic
rs746931260	p.Leu853Val	missense variant	-	NC_000010.11:g.69265769C>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu853Met	missense variant	-	NC_000010.11:g.69265769C>A	NCI-TCGA
NCI-TCGA novel	p.Thr856Ala	missense variant	-	NC_000010.11:g.69265778A>G	NCI-TCGA
rs1240729355	p.Val857Met	missense variant	-	NC_000010.11:g.69265781G>A	gnomAD
rs781059054	p.Val859Met	missense variant	-	NC_000010.11:g.69265787G>A	ExAC,TOPMed,gnomAD
rs772992778	p.Gly861Ser	missense variant	-	NC_000010.11:g.69265793G>A	ExAC,TOPMed,gnomAD
rs762602691	p.Tyr864Cys	missense variant	-	NC_000010.11:g.69265803A>G	ExAC,gnomAD
rs1371156697	p.Lys865Glu	missense variant	-	NC_000010.11:g.69265805A>G	gnomAD
rs1173052333	p.Lys865Asn	missense variant	-	NC_000010.11:g.69265807G>C	TOPMed
rs1218804568	p.Lys865Arg	missense variant	-	NC_000010.11:g.69265806A>G	gnomAD
rs770536792	p.His867Gln	missense variant	-	NC_000010.11:g.69265813C>A	ExAC,gnomAD
rs1394308218	p.Arg872Ter	stop gained	-	NC_000010.11:g.69266617A>T	gnomAD
NCI-TCGA novel	p.Leu874Phe	missense variant	-	NC_000010.11:g.69266625G>T	NCI-TCGA
NCI-TCGA novel	p.Gln875Ter	stop gained	-	NC_000010.11:g.69266626C>T	NCI-TCGA
rs758906817	p.Glu876Lys	missense variant	-	NC_000010.11:g.69266629G>A	ExAC,gnomAD
rs1051979002	p.Glu876Ala	missense variant	-	NC_000010.11:g.69266630A>C	TOPMed,gnomAD
rs1469015247	p.Val878Met	missense variant	-	NC_000010.11:g.69266635G>A	gnomAD
rs772706775	p.Lys879Arg	missense variant	-	NC_000010.11:g.69266639A>G	ExAC,gnomAD
rs550707062	p.Glu880Gly	missense variant	-	NC_000010.11:g.69266642A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Glu880Ter	stop gained	-	NC_000010.11:g.69266641G>T	NCI-TCGA
rs1340715802	p.Leu881Pro	missense variant	-	NC_000010.11:g.69266645T>C	gnomAD
rs1460754596	p.Leu881Val	missense variant	-	NC_000010.11:g.69266644C>G	TOPMed
rs1217537485	p.Ala882Thr	missense variant	-	NC_000010.11:g.69266647G>A	TOPMed,gnomAD
rs923490364	p.Ala882Asp	missense variant	-	NC_000010.11:g.69266648C>A	gnomAD
rs923490364	p.Ala882Val	missense variant	-	NC_000010.11:g.69266648C>T	gnomAD
rs1338055612	p.Pro883Leu	missense variant	-	NC_000010.11:g.69266651C>T	gnomAD
rs759134508	p.Arg884Gln	missense variant	-	NC_000010.11:g.69266654G>A	gnomAD
rs375835998	p.Arg884Gly	missense variant	-	NC_000010.11:g.69266653C>G	ESP,ExAC,TOPMed,gnomAD
rs375835998	p.Arg884Ter	stop gained	-	NC_000010.11:g.69266653C>T	ESP,ExAC,TOPMed,gnomAD
rs141171820	p.Asp886Asn	missense variant	-	NC_000010.11:g.69266659G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1193069224	p.Val887Ala	missense variant	-	NC_000010.11:g.69266663T>C	gnomAD
rs1478257285	p.Val887Met	missense variant	-	NC_000010.11:g.69266662G>A	gnomAD
rs765315857	p.Thr888Ser	missense variant	-	NC_000010.11:g.69266665A>T	ExAC,gnomAD
rs1193356176	p.Met890Ile	missense variant	-	NC_000010.11:g.69266673G>A	TOPMed
rs1469208100	p.Leu891Pro	missense variant	-	NC_000010.11:g.69266675T>C	TOPMed
rs148418934	p.Ser892Pro	missense variant	-	NC_000010.11:g.69266677T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1432675747	p.Ser896Asn	missense variant	-	NC_000010.11:g.69266690G>A	gnomAD
rs373227806	p.Gly899Arg	missense variant	-	NC_000010.11:g.69266698G>A	ESP,ExAC,TOPMed,gnomAD
rs373227806	p.Gly899Arg	missense variant	-	NC_000010.11:g.69266698G>C	ESP,ExAC,TOPMed,gnomAD
rs756080787	p.Leu902Pro	missense variant	-	NC_000010.11:g.69266708T>C	ExAC,gnomAD
rs1332258408	p.Thr904Asn	missense variant	-	NC_000010.11:g.69266714C>A	gnomAD
rs749034197	p.Val906Met	missense variant	-	NC_000010.11:g.69266719G>A	ExAC,TOPMed,gnomAD
rs749034197	p.Val906Leu	missense variant	-	NC_000010.11:g.69266719G>C	ExAC,TOPMed,gnomAD
rs1001932273	p.Lys908Glu	missense variant	-	NC_000010.11:g.69266725A>G	TOPMed,gnomAD
rs1347749417	p.Lys908Asn	missense variant	-	NC_000010.11:g.69266727G>T	gnomAD
rs1001932273	p.Lys908Gln	missense variant	-	NC_000010.11:g.69266725A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Leu910Ter	stop gained	-	NC_000010.11:g.69266732T>A	NCI-TCGA
COSM4015356	p.Leu910Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69266732T>C	NCI-TCGA Cosmic
rs1167065899	p.Gln911Arg	missense variant	-	NC_000010.11:g.69266735A>G	TOPMed,gnomAD
rs1395122396	p.Ala913Gly	missense variant	-	NC_000010.11:g.69266741C>G	gnomAD
rs566448829	p.Gln914Arg	missense variant	-	NC_000010.11:g.69266744A>G	1000Genomes,ExAC,gnomAD
COSM919899	p.Glu916Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69266751G>T	NCI-TCGA Cosmic
rs906219	p.Asn917Lys	missense variant	-	NC_000010.11:g.69266754C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0017741	Glucose tolerance test	phenotype	GWASCAT
C0020456	Hyperglycemia	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004340	glucokinase activity	IBA
GO:0004340	glucokinase activity	IDA
GO:0005524	ATP binding	IEA
GO:0005536	glucose binding	IEA
GO:0008865	fructokinase activity	IBA
GO:0019158	mannokinase activity	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001678	cellular glucose homeostasis	IBA
GO:0001678	cellular glucose homeostasis	IDA
GO:0006096	glycolytic process	IEA
GO:0006096	glycolytic process	IBA
GO:0019318	hexose metabolic process	IEA
GO:0046835	carbohydrate phosphorylation	IEA
GO:0051156	glucose 6-phosphate metabolic process	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005623	cell	IEA
GO:0005739	mitochondrion	IDA
GO:0005829	cytosol	IBA
GO:0031966	mitochondrial membrane	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C026486	1,2,5,6-dibenzanthracene	1,2,5,6-dibenzanthracene results in increased expression of HKDC1 mRNA	26377693
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in decreased expression of HKDC1 mRNA	23146750
C078765	2,3,5-(triglutathion-S-yl)hydroquinone	2,3,5-(triglutathion-S-yl)hydroquinone results in increased ADP-ribosylation of HKDC1 protein	31165168
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	2,4,5,2',4',5'-hexachlorobiphenyl results in decreased expression of HKDC1 mRNA	23146750
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene results in increased expression of HKDC1 mRNA	20406850
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in decreased expression of HKDC1 mRNA	23146750
C496492	abrine	abrine results in increased expression of HKDC1 mRNA	31054353
C496492	abrine	abrine results in increased expression of HKDC1 protein	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of HKDC1 mRNA	25704631; 29067470;
D000082	Acetaminophen	Acetaminophen affects the expression of HKDC1 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of HKDC1 mRNA	27153756
D000393	Air Pollutants	Air Pollutants results in increased expression of HKDC1 mRNA	23649983
D000077556	Alitretinoin	Alitretinoin results in decreased expression of HKDC1 mRNA	30248606
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite affects the expression of HKDC1 mRNA	25757056
D001280	Atrazine	Atrazine affects the methylation of HKDC1 gene	28931070
C406592	azaspiracid	azaspiracid results in increased expression of HKDC1 mRNA	28939011
C487081	belinostat	belinostat results in decreased expression of HKDC1 mRNA	27188386
C030935	benz(a)anthracene	benz(a)anthracene results in increased expression of HKDC1 mRNA	26377693
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of HKDC1 mRNA	20106945
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of HKDC1 mRNA	26238291
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of HKDC1 mRNA	27195522
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in increased expression of HKDC1 mRNA	26377693
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of HKDC1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of HKDC1 mRNA	30248606
C006780	bisphenol A	bisphenol A affects the expression of HKDC1 mRNA	20170705; 30903817;
C006780	bisphenol A	bisphenol A results in decreased expression of HKDC1 mRNA	23146750
C006780	bisphenol A	bisphenol A results in increased expression of HKDC1 mRNA	29275510
C006780	bisphenol A	bisphenol A results in decreased expression of HKDC1 mRNA	30951980
C584509	C646 compound	C646 compound results in increased expression of HKDC1 mRNA	26191083
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of HKDC1 mRNA	20938992
D002945	Cisplatin	Cisplatin results in decreased expression of HKDC1 mRNA	27392435
D003300	Copper	[NSC 689534 binds to Copper] which results in increased expression of HKDC1 mRNA	20971185
D019327	Copper Sulfate	Copper Sulfate results in increased expression of HKDC1 mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in increased expression of HKDC1 mRNA	19159671; 20106945; 25562108;
D004041	Dietary Fats	Dietary Fats results in decreased expression of HKDC1 mRNA	25016146
D004958	Estradiol	Estradiol results in increased expression of HKDC1 mRNA	20106945
D000431	Ethanol	Ethanol results in decreased expression of HKDC1 mRNA	29361514
D000431	Ethanol	Ethanol affects the expression of HKDC1 mRNA	30319688
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of HKDC1 mRNA	20938992
C010974	glyphosate	glyphosate results in increased methylation of HKDC1 gene	31011160
C412815	GW 4064	GW 4064 results in decreased expression of HKDC1 mRNA	26655953
C492448	ICG 001	ICG 001 results in increased expression of HKDC1 mRNA	26191083
C544151	jinfukang	jinfukang results in increased expression of HKDC1 mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of HKDC1 mRNA	26752646
C410337	K 7174	K 7174 results in increased expression of HKDC1 mRNA	24086573
D000077339	Leflunomide	Leflunomide results in decreased expression of HKDC1 mRNA	19751817
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of HKDC1 mRNA	20938992
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of HKDC1 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of HKDC1 mRNA	25554681
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in increased expression of HKDC1 mRNA	20971185
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of HKDC1 mRNA	30529165
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of HKDC1 mRNA	17560707
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of HKDC1 mRNA	17560707; 19162173;
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of HKDC1 mRNA	23146750
D010634	Phenobarbital	Phenobarbital affects the expression of HKDC1 mRNA	19159669
D011078	Polychlorinated Biphenyls	Polychlorinated Biphenyls affects the expression of HKDC1 mRNA	21334430
C572919	PP242	PP242 results in decreased expression of HKDC1 mRNA	30679557
C005556	propionaldehyde	propionaldehyde results in increased expression of HKDC1 mRNA	26079696
C513428	pyrachlostrobin	pyrachlostrobin results in decreased expression of HKDC1 mRNA	27029645
D012834	Silver	Silver results in increased expression of HKDC1 mRNA	26014281
C017947	sodium arsenite	sodium arsenite results in increased expression of HKDC1 mRNA	29361514
D053260	Soot	Soot results in increased expression of HKDC1 mRNA	22461453
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of HKDC1 mRNA	20106945; 21632981;
C009495	titanium dioxide	titanium dioxide results in increased expression of HKDC1 mRNA	27760801
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of HKDC1 mRNA	30579903
D014212	Tretinoin	Tretinoin results in decreased expression of HKDC1 mRNA	30248606
D014260	Triclosan	Triclosan affects the expression of HKDC1 mRNA	29596926
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of HKDC1 mRNA	26179874
C013320	tris(2-butoxyethyl) phosphate	tris(2-butoxyethyl) phosphate affects the expression of HKDC1 mRNA	29024780
D014635	Valproic Acid	Valproic Acid results in increased expression of HKDC1 mRNA	29154799
C066632	yessotoxin	yessotoxin analog results in increased expression of HKDC1 mRNA	30679557

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0067	ATP-binding
KW-0324	Glycolysis
KW-0418	Kinase
KW-0472	Membrane
KW-0496	Mitochondrion
KW-0547	Nucleotide-binding
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0808	Transferase

Interpro

InterPro ID	InterPro Term
IPR043129	ATPase_NBD
IPR001312	Hexokinase
IPR019807	Hexokinase_BS
IPR022673	Hexokinase_C
IPR022672	Hexokinase_N

PROSITE

PROSITE ID	PROSITE Term
PS00378	HEXOKINASE_1
PS51748	HEXOKINASE_2

Pfam

Pfam ID	Pfam Term
PF00349	Hexokinase_1
PF03727	Hexokinase_2

Gene: HKDC1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction