CleftGeneDB-Search

Gene: TULP4

Basic information

Tag	Content
Uniprot ID	Q9NRJ4; Q5T3M2; Q5T3M3; Q9HD22; Q9P2F0;
Entrez ID	56995
Genbank protein ID	AAI52477.1; AAG01020.1; EAW47661.1; BAA92635.1; EAW47662.1; AAF87975.1;
Genbank nucleotide ID	XM_017011070.1; XM_017011069.1; NM_020245.4; NM_001007466.2; XM_017011071.1;
Ensembl protein ID	ENSP00000356061; ENSP00000356064;
Ensembl nucleotide ID	ENSG00000130338
Gene name	Tubby-related protein 4
Gene symbol	TULP4
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	24066709
Functional description	May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
Sequence	MYAAVEHGPV LCSDSNILCL SWKGRVPKSE KEKPVCRRRY YEEGWLATGN GRGVVGVTFT 60 SSHCRRDRST PQRINFNLRG HNSEVVLVRW NEPYQKLATC DADGGIFVWI QYEGRWSVEL 120 VNDRGAQVSD FTWSHDGTQA LISYRDGFVL VGSVSGQRHW SSEINLESQI TCGIWTPDDQ 180 QVLFGTADGQ VIVMDCHGRM LAHVLLHESD GVLGMSWNYP IFLVEDSSES DTDSDDYAPP 240 QDGPAAYPIP VQNIKPLLTV SFTSGDISLM NNYDDLSPTV IRSGLKEVVA QWCTQGDLLA 300 VAGMERQTQL GELPNGPLLK SAMVKFYNVR GEHIFTLDTL VQRPIISICW GHRDSRLLMA 360 SGPALYVVRV EHRVSSLQLL CQQAIASTLR EDKDVSKLTL PPRLCSYLST AFIPTIKPPI 420 PDPNNMRDFV SYPSAGNERL HCTMKRTEDD PEVGGPCYTL YLEYLGGLVP ILKGRRISKL 480 RPEFVIMDPR TDSKPDEIYG NSLISTVIDS CNCSDSSDIE LSDDWAAKKS PKISRASKSP 540 KLPRISIEAR KSPKLPRAAQ ELSRSPRLPL RKPSVGSPSL TRREFPFEDI TQHNYLAQVT 600 SNIWGTKFKI VGLAAFLPTN LGAVIYKTSL LHLQPRQMTI YLPEVRKISM DYINLPVFNP 660 NVFSEDEDDL PVTGASGVPE NSPPCTVNIP IAPIHSSAQA MSPTQSIGLV QSLLANQNVQ 720 LDVLTNQTTA VGTAEHAGDS ATQYPVSNRY SNPGQVIFGS VEMGRIIQNP PPLSLPPPPQ 780 GPMQLSTVGH GDRDHEHLQK SAKALRPTPQ LAAEGDAVVF SAPQEVQVTK INPPPPYPGT 840 IPAAPTTAAP PPPLPPPQPP VDVCLKKGDF SLYPTSVHYQ TPLGYERITT FDSSGNVEEV 900 CRPRTRMLCS QNTYTLPGPG SSATLRLTAT EKKVPQPCSS ATLNRLTVPR YSIPTGDPPP 960 YPEIASQLAQ GRGAAQRSDN SLIHATLRRN NREATLKMAQ LADSPRAPLQ PLAKSKGGPG 1020 GVVTQLPARP PPALYTCSQC SGTGPSSQPG ASLAHTASAS PLASQSSYSL LSPPDSARDR 1080 TDYVNSAFTE DEALSQHCQL EKPLRHPPLP EAAVTLKRPP PYQWDPMLGE DVWVPQERTA 1140 QTSGPNPLKL SSLMLSQGQH LDVSRLPFIS PKSPASPTAT FQTGYGMGVP YPGSYNNPPL 1200 PGVQAPCSPK DALSPTQFAQ QEPAVVLQPL YPPSLSYCTL PPMYPGSSTC SSLQLPPVAL 1260 HPWSSYSACP PMQNPQGTLP PKPHLVVEKP LVSPPPADLQ SHLGTEVMVE TADNFQEVLS 1320 LTESPVPQRT EKFGKKNRKR LDSRAEEGSV QAITEGKVKK EARTLSDFNS LISSPHLGRE 1380 KKKVKSQKDQ LKSKKLNKTN EFQDSSESEP ELFISGDELM NQSQGSRKGW KSKRSPRAAG 1440 ELEEAKCRRA SEKEDGRLGS QGFVYVMANK QPLWNEATQV YQLDFGGRVT QESAKNFQIE 1500 LEGRQVMQFG RIDGSAYILD FQYPFSAVQA FAVALANVTQ RLK 1543

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	TULP4	484053	F1P9V3	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	TULP4		A0A452DPT9	Capra hircus	Prediction	More>>
1:1 ortholog	TULP4	56995	Q9NRJ4	Homo sapiens	Publication	More>>
1:1 ortholog	Tulp4	68842	Q3UH13	Mus musculus	Prediction	More>>
1:1 ortholog	TULP4		A0A2I3S4L4	Pan troglodytes	Prediction	More>>
1:1 ortholog	Tulp4	499016	D3ZFM2	Rattus norvegicus	Prediction	More>>
1:1 ortholog	tulp4a	557730	E7EXF2	Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
TULP4	rs651333	PCR; sequencing	24066709

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs779750433	p.Ala4Val	missense variant	-	NC_000006.12:g.158314027C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala4Ser	missense variant	-	NC_000006.12:g.158314026G>T	NCI-TCGA
rs749518667	p.Val5Met	missense variant	-	NC_000006.12:g.158314029G>A	ExAC,gnomAD
rs768814814	p.His7Arg	missense variant	-	NC_000006.12:g.158314036A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly8Trp	missense variant	-	NC_000006.12:g.158314038G>T	NCI-TCGA
rs1346902397	p.Pro9Ser	missense variant	-	NC_000006.12:g.158314041C>T	TOPMed,gnomAD
rs761818661	p.Cys12Ser	missense variant	-	NC_000006.12:g.158314051G>C	ExAC,TOPMed,gnomAD
rs772174757	p.Ser13Gly	missense variant	-	NC_000006.12:g.158314053A>G	ExAC,gnomAD
rs7756620	p.Asp14Glu	missense variant	-	NC_000006.12:g.158314058T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3622372	p.Ser15Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158314060C>T	NCI-TCGA Cosmic
rs766737014	p.Asn16Ser	missense variant	-	NC_000006.12:g.158314063A>G	ExAC,TOPMed,gnomAD
rs1193149827	p.Ile17Val	missense variant	-	NC_000006.12:g.158314065A>G	gnomAD
rs754225602	p.Leu18Val	missense variant	-	NC_000006.12:g.158314068C>G	ExAC,gnomAD
rs1169604597	p.Cys19Ser	missense variant	-	NC_000006.12:g.158314072G>C	gnomAD
rs1197595401	p.Leu20Val	missense variant	-	NC_000006.12:g.158314074C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Gly24Trp	missense variant	-	NC_000006.12:g.158314086G>T	NCI-TCGA
NCI-TCGA novel	p.Arg25His	missense variant	-	NC_000006.12:g.158314090G>A	NCI-TCGA
rs763597902	p.Arg25Cys	missense variant	-	NC_000006.12:g.158314089C>T	ExAC,gnomAD
rs1276667147	p.Lys28Arg	missense variant	-	NC_000006.12:g.158314099A>G	TOPMed,gnomAD
rs1442043738	p.Ser29Thr	missense variant	-	NC_000006.12:g.158314102G>C	TOPMed,gnomAD
rs780896544	p.Pro34Ser	missense variant	-	NC_000006.12:g.158314116C>T	ExAC,TOPMed,gnomAD
rs780896544	p.Pro34Ala	missense variant	-	NC_000006.12:g.158314116C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val35Ala	missense variant	-	NC_000006.12:g.158314120T>C	NCI-TCGA
rs1300814225	p.Cys36Phe	missense variant	-	NC_000006.12:g.158314123G>T	gnomAD
NCI-TCGA novel	p.Arg37Met	missense variant	-	NC_000006.12:g.158314126G>T	NCI-TCGA
COSM1075419	p.Arg39Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158314131C>T	NCI-TCGA Cosmic
COSM3860043	p.Arg39His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158314132G>A	NCI-TCGA Cosmic
rs756184917	p.Tyr40Cys	missense variant	-	NC_000006.12:g.158314135A>G	ExAC,gnomAD
rs762874370	p.Tyr41Cys	missense variant	-	NC_000006.12:g.158314138A>G	gnomAD
rs1228946035	p.Tyr41His	missense variant	-	NC_000006.12:g.158314137T>C	gnomAD
rs779882852	p.Glu42Lys	missense variant	-	NC_000006.12:g.158314140G>A	ExAC,gnomAD
rs1479558820	p.Leu46Pro	missense variant	-	NC_000006.12:g.158314153T>C	-
COSM3860044	p.Ala47Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158314155G>A	NCI-TCGA Cosmic
rs748974236	p.Thr48Met	missense variant	-	NC_000006.12:g.158314159C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn50Ser	missense variant	-	NC_000006.12:g.158314165A>G	NCI-TCGA
rs545850723	p.Gly51Arg	missense variant	-	NC_000006.12:g.158314167G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs773323875	p.Arg52Ter	stop gained	-	NC_000006.12:g.158314170C>T	ExAC
rs972597381	p.Val54Leu	missense variant	-	NC_000006.12:g.158314176G>C	TOPMed
rs1191354523	p.Val55Ile	missense variant	-	NC_000006.12:g.158314179G>A	gnomAD
rs747512159	p.His63Arg	missense variant	-	NC_000006.12:g.158314204A>G	ExAC,gnomAD
rs564254313	p.Arg65Leu	missense variant	-	NC_000006.12:g.158314210G>T	1000Genomes,TOPMed,gnomAD
rs771400781	p.Arg65Cys	missense variant	-	NC_000006.12:g.158314209C>T	ExAC,TOPMed,gnomAD
rs564254313	p.Arg65His	missense variant	-	NC_000006.12:g.158314210G>A	1000Genomes,TOPMed,gnomAD
rs1167858846	p.Asp67Gly	missense variant	-	NC_000006.12:g.158314216A>G	gnomAD
rs777208670	p.Asp67Glu	missense variant	-	NC_000006.12:g.158314217C>G	ExAC,TOPMed,gnomAD
rs1406666309	p.Arg68Lys	missense variant	-	NC_000006.12:g.158314219G>A	gnomAD
rs202231886	p.Ser69Thr	missense variant	-	NC_000006.12:g.158314222G>C	gnomAD
rs202231886	p.Ser69Asn	missense variant	-	NC_000006.12:g.158314222G>A	gnomAD
rs1169131982	p.Thr70Ala	missense variant	-	NC_000006.12:g.158314224A>G	gnomAD
rs1045091320	p.Thr70Ile	missense variant	-	NC_000006.12:g.158314225C>T	TOPMed,gnomAD
rs1457965858	p.Arg73Lys	missense variant	-	NC_000006.12:g.158314234G>A	TOPMed
NCI-TCGA novel	p.Arg73Met	missense variant	-	NC_000006.12:g.158314234G>T	NCI-TCGA
rs1204210257	p.Ile74Lys	missense variant	-	NC_000006.12:g.158314237T>A	TOPMed
rs1324493664	p.Arg79Trp	missense variant	-	NC_000006.12:g.158314251C>T	TOPMed,gnomAD
rs1226330574	p.Arg79Gln	missense variant	-	NC_000006.12:g.158314252G>A	gnomAD
rs765656247	p.Asn82Asp	missense variant	-	NC_000006.12:g.158314260A>G	ExAC,gnomAD
rs1235266039	p.Asn82Ser	missense variant	-	NC_000006.12:g.158314261A>G	TOPMed,gnomAD
rs151153166	p.Ser83Asn	missense variant	-	NC_000006.12:g.158314264G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141133811	p.Glu84Lys	missense variant	-	NC_000006.12:g.158314266G>A	ESP,ExAC,TOPMed,gnomAD
rs765940803	p.Ala98Val	missense variant	-	NC_000006.12:g.158413105C>T	ExAC,gnomAD
rs937565993	p.Thr99Met	missense variant	-	NC_000006.12:g.158413108C>T	TOPMed
rs906119955	p.Asp101Asn	missense variant	-	NC_000006.12:g.158413113G>A	TOPMed
rs1334245517	p.Ala102Val	missense variant	-	NC_000006.12:g.158413117C>T	TOPMed,gnomAD
COSM420996	p.Gly104Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158413123G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly105Asp	missense variant	-	NC_000006.12:g.158413126G>A	NCI-TCGA
COSM3860046	p.Val108Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158413134G>A	NCI-TCGA Cosmic
COSM4852422	p.Gln111Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.158413143C>T	NCI-TCGA Cosmic
rs960224645	p.Val121Ile	missense variant	-	NC_000006.12:g.158413173G>A	TOPMed
rs201273653	p.Asp123Asn	missense variant	-	NC_000006.12:g.158413179G>A	ExAC,gnomAD
rs1396439861	p.Arg124Cys	missense variant	-	NC_000006.12:g.158413182C>T	gnomAD
rs374071388	p.Gly125Arg	missense variant	-	NC_000006.12:g.158413185G>A	ESP,ExAC,TOPMed
rs367703455	p.Ala126Val	missense variant	-	NC_000006.12:g.158413189C>T	ESP,ExAC,TOPMed,gnomAD
rs1296341755	p.Gln127Arg	missense variant	-	NC_000006.12:g.158413192A>G	gnomAD
rs1463434537	p.Gln127Lys	missense variant	-	NC_000006.12:g.158413191C>A	gnomAD
rs1448251816	p.Val128Met	missense variant	-	NC_000006.12:g.158429736G>A	TOPMed
NCI-TCGA novel	p.Ser129Gly	missense variant	-	NC_000006.12:g.158429739A>G	NCI-TCGA
rs147594079	p.Ser129Thr	missense variant	-	NC_000006.12:g.158429740G>C	ESP,TOPMed
rs1307414440	p.Asp130Val	missense variant	-	NC_000006.12:g.158429743A>T	gnomAD
rs375882472	p.Thr132Met	missense variant	-	NC_000006.12:g.158429749C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1248201598	p.Asp136Asn	missense variant	-	NC_000006.12:g.158429760G>A	gnomAD
rs1418769894	p.Ala140Thr	missense variant	-	NC_000006.12:g.158429772G>A	gnomAD
rs1424290736	p.Ser143Cys	missense variant	-	NC_000006.12:g.158429782C>G	gnomAD
rs1010046898	p.Arg145Gly	missense variant	-	NC_000006.12:g.158429787C>G	TOPMed,gnomAD
rs199717475	p.Arg145Gln	missense variant	-	NC_000006.12:g.158429788G>A	1000Genomes,TOPMed
NCI-TCGA novel	p.Asp146Asn	missense variant	-	NC_000006.12:g.158429790G>A	NCI-TCGA
rs759019241	p.Val149Leu	missense variant	-	NC_000006.12:g.158429799G>C	ExAC,gnomAD
rs777811451	p.His159Asp	missense variant	-	NC_000006.12:g.158429829C>G	ExAC,TOPMed,gnomAD
rs755898916	p.Ser161Leu	missense variant	-	NC_000006.12:g.158429836C>T	TOPMed,gnomAD
COSM207271	p.Glu163Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158429841G>A	NCI-TCGA Cosmic
rs1332052318	p.Ile164Leu	missense variant	-	NC_000006.12:g.158429844A>C	gnomAD
NCI-TCGA novel	p.Gln169Ter	stop gained	-	NC_000006.12:g.158429859C>T	NCI-TCGA
NCI-TCGA novel	p.Thr171Lys	missense variant	-	NC_000006.12:g.158429866C>A	NCI-TCGA
rs1239716102	p.Thr171Met	missense variant	-	NC_000006.12:g.158429866C>T	gnomAD
rs754369167	p.Ile174Thr	missense variant	-	NC_000006.12:g.158429875T>C	ExAC,gnomAD
NCI-TCGA novel	p.Trp175Ter	stop gained	-	NC_000006.12:g.158429879G>A	NCI-TCGA
rs779135997	p.Asp179Asn	missense variant	-	NC_000006.12:g.158429889G>A	ExAC,gnomAD
rs748488700	p.Gln180His	missense variant	-	NC_000006.12:g.158429894A>C	ExAC,gnomAD
rs753176182	p.Val182Leu	missense variant	-	NC_000006.12:g.158448996G>C	ExAC,gnomAD
NCI-TCGA novel	p.Thr186Pro	missense variant	-	NC_000006.12:g.158449008A>C	NCI-TCGA
rs376940085	p.Thr186Met	missense variant	-	NC_000006.12:g.158449009C>T	ESP,ExAC,TOPMed,gnomAD
rs748728620	p.Asp188His	missense variant	-	NC_000006.12:g.158449014G>C	ExAC,gnomAD
rs748728620	p.Asp188Asn	missense variant	-	NC_000006.12:g.158449014G>A	ExAC,gnomAD
rs1330081267	p.Gly189Arg	missense variant	-	NC_000006.12:g.158449017G>A	gnomAD
rs1428846054	p.Val191Met	missense variant	-	NC_000006.12:g.158449023G>A	TOPMed
rs774292933	p.Val193Ile	missense variant	-	NC_000006.12:g.158449029G>A	ExAC,gnomAD
rs771873011	p.Gly198Ser	missense variant	-	NC_000006.12:g.158449044G>A	ExAC,gnomAD
rs705956	p.Arg199Ser	missense variant	-	NC_000006.12:g.158449049A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs705956	p.Arg199Ser	missense variant	-	NC_000006.12:g.158449049A>C	UniProt,dbSNP
VAR_059841	p.Arg199Ser	missense variant	-	NC_000006.12:g.158449049A>C	UniProt
rs705956	p.Arg199Ser	missense variant	-	NC_000006.12:g.158449049A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1055528637	p.Ala202Val	missense variant	-	NC_000006.12:g.158449057C>T	TOPMed,gnomAD
rs1055528637	p.Ala202Gly	missense variant	-	NC_000006.12:g.158449057C>G	TOPMed,gnomAD
rs766653993	p.His203Tyr	missense variant	-	NC_000006.12:g.158449059C>T	ExAC,gnomAD
rs34360218	p.Val204Phe	missense variant	-	NC_000006.12:g.158449062G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs34360218	p.Val204Ile	missense variant	-	NC_000006.12:g.158449062G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1264151068	p.His207Asp	missense variant	-	NC_000006.12:g.158449071C>G	TOPMed
rs1393678072	p.Glu208Lys	missense variant	-	NC_000006.12:g.158449074G>A	TOPMed,gnomAD
rs1454061113	p.Asp210Asn	missense variant	-	NC_000006.12:g.158449080G>A	gnomAD
rs763435551	p.Asp210Glu	missense variant	-	NC_000006.12:g.158449082C>A	ExAC,TOPMed,gnomAD
rs764504122	p.Gly211Cys	missense variant	-	NC_000006.12:g.158449083G>T	ExAC,TOPMed,gnomAD
rs764504122	p.Gly211Arg	missense variant	-	NC_000006.12:g.158449083G>C	ExAC,TOPMed,gnomAD
rs764504122	p.Gly211Ser	missense variant	-	NC_000006.12:g.158449083G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val212Phe	missense variant	-	NC_000006.12:g.158449086G>T	NCI-TCGA
rs757622758	p.Leu213Arg	missense variant	-	NC_000006.12:g.158449090T>G	ExAC,gnomAD
rs35262826	p.Gly214Ser	missense variant	-	NC_000006.12:g.158449092G>A	UniProt,dbSNP
VAR_052417	p.Gly214Ser	missense variant	-	NC_000006.12:g.158449092G>A	UniProt
rs35262826	p.Gly214Ser	missense variant	-	NC_000006.12:g.158449092G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138899998	p.Tyr219Phe	missense variant	-	NC_000006.12:g.158449108A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro220Arg	missense variant	-	NC_000006.12:g.158449111C>G	NCI-TCGA
NCI-TCGA novel	p.Pro220Leu	missense variant	-	NC_000006.12:g.158449111C>T	NCI-TCGA
rs1462472442	p.Ile221Asn	missense variant	-	NC_000006.12:g.158449114T>A	TOPMed
rs1369996721	p.Asp226Asn	missense variant	-	NC_000006.12:g.158449128G>A	gnomAD
rs1227809607	p.Ser227Gly	missense variant	-	NC_000006.12:g.158449131A>G	gnomAD
rs777870429	p.Ser230Asn	missense variant	-	NC_000006.12:g.158449141G>A	ExAC,gnomAD
rs1006286014	p.Asp231Asn	missense variant	-	NC_000006.12:g.158449143G>A	gnomAD
rs1039105687	p.Thr232Met	missense variant	-	NC_000006.12:g.158449147C>T	TOPMed
rs769888430	p.Ala238Thr	missense variant	-	NC_000006.12:g.158449164G>A	ExAC,gnomAD
rs775488874	p.Ala238Gly	missense variant	-	NC_000006.12:g.158449165C>G	ExAC,gnomAD
rs775488874	p.Ala238Asp	missense variant	-	NC_000006.12:g.158449165C>A	ExAC,gnomAD
rs142539994	p.Pro244Leu	missense variant	-	NC_000006.12:g.158452140C>T	ESP,ExAC,TOPMed,gnomAD
rs1417609499	p.Ala246Ser	missense variant	-	NC_000006.12:g.158452145G>T	gnomAD
NCI-TCGA novel	p.Tyr247Cys	missense variant	-	NC_000006.12:g.158452149A>G	NCI-TCGA
rs770829194	p.Pro248Ser	missense variant	-	NC_000006.12:g.158452151C>T	ExAC,TOPMed,gnomAD
rs770829194	p.Pro248Thr	missense variant	-	NC_000006.12:g.158452151C>A	ExAC,TOPMed,gnomAD
rs1258758440	p.Val251Met	missense variant	-	NC_000006.12:g.158452160G>A	gnomAD
rs769848337	p.Gln252Arg	missense variant	-	NC_000006.12:g.158452164A>G	ExAC,gnomAD
COSM3697635	p.Gln252His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158452165G>C	NCI-TCGA Cosmic
rs775784871	p.Ile254Met	missense variant	-	NC_000006.12:g.158452171C>G	ExAC,gnomAD
rs762344675	p.Leu258Phe	missense variant	-	NC_000006.12:g.158452181C>T	ExAC,gnomAD
rs773509077	p.Val260Ile	missense variant	-	NC_000006.12:g.158452187G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser261Arg	missense variant	-	NC_000006.12:g.158452192C>G	NCI-TCGA
rs761118041	p.Ser261Asn	missense variant	-	NC_000006.12:g.158452191G>A	ExAC,gnomAD
rs1481000397	p.Phe262Leu	missense variant	-	NC_000006.12:g.158452193T>C	TOPMed
NCI-TCGA novel	p.Thr263Ala	missense variant	-	NC_000006.12:g.158452196A>G	NCI-TCGA
rs150575694	p.Ser264Leu	missense variant	-	NC_000006.12:g.158452200C>T	ESP,ExAC,TOPMed,gnomAD
rs1240069892	p.Asp266Asn	missense variant	-	NC_000006.12:g.158452205G>A	gnomAD
rs1349905497	p.Ile267Val	missense variant	-	NC_000006.12:g.158452208A>G	TOPMed
rs149734049	p.Asn272Ser	missense variant	-	NC_000006.12:g.158452224A>G	ESP,ExAC,TOPMed,gnomAD
rs149734049	p.Asn272Thr	missense variant	-	NC_000006.12:g.158452224A>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp274Glu	missense variant	-	NC_000006.12:g.158452231T>G	NCI-TCGA
rs781290744	p.Asp274Asn	missense variant	-	NC_000006.12:g.158452229G>A	ExAC,TOPMed,gnomAD
rs1419086687	p.Ser277Phe	missense variant	-	NC_000006.12:g.158452239C>T	gnomAD
rs370464480	p.Thr279Met	missense variant	-	NC_000006.12:g.158452245C>T	ESP,ExAC,TOPMed,gnomAD
rs780090495	p.Arg282Cys	missense variant	-	NC_000006.12:g.158452253C>T	ExAC,TOPMed,gnomAD
rs749569563	p.Arg282His	missense variant	-	NC_000006.12:g.158452254G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly284Trp	missense variant	-	NC_000006.12:g.158452259G>T	NCI-TCGA
rs1184436920	p.Gly284Glu	missense variant	-	NC_000006.12:g.158452260G>A	TOPMed
rs1432810405	p.Lys286Glu	missense variant	-	NC_000006.12:g.158452265A>G	gnomAD
rs774477796	p.Glu287Lys	missense variant	-	NC_000006.12:g.158452268G>A	ExAC,gnomAD
rs748162335	p.Val289Leu	missense variant	-	NC_000006.12:g.158461568G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln291HisPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.158461576_158461597GTGGTGCACACAGGGGGACTTG>-	NCI-TCGA
rs773547692	p.Thr294Pro	missense variant	-	NC_000006.12:g.158461583A>C	ExAC,TOPMed,gnomAD
rs773547692	p.Thr294Ser	missense variant	-	NC_000006.12:g.158461583A>T	ExAC,TOPMed,gnomAD
rs1316703125	p.Thr294Ile	missense variant	-	NC_000006.12:g.158461584C>T	gnomAD
rs777122605	p.Ala302Thr	missense variant	-	NC_000006.12:g.158461607G>A	ExAC,TOPMed,gnomAD
rs777122605	p.Ala302Ser	missense variant	-	NC_000006.12:g.158461607G>T	ExAC,TOPMed,gnomAD
rs762684227	p.Glu305Val	missense variant	-	NC_000006.12:g.158461617A>T	ExAC,gnomAD
rs139423321	p.Arg306Gln	missense variant	-	NC_000006.12:g.158461620G>A	ESP,ExAC,TOPMed,gnomAD
rs771310062	p.Arg306Trp	missense variant	-	NC_000006.12:g.158461619C>T	ExAC,TOPMed,gnomAD
rs575849065	p.Gln307Glu	missense variant	-	NC_000006.12:g.158461622C>G	1000Genomes,gnomAD
rs575849065	p.Gln307Lys	missense variant	-	NC_000006.12:g.158461622C>A	1000Genomes,gnomAD
rs1166004213	p.Thr308Ser	missense variant	-	NC_000006.12:g.158461625A>T	gnomAD
rs569710000	p.Thr308Ser	missense variant	-	NC_000006.12:g.158461626C>G	ExAC,TOPMed,gnomAD
rs569710000	p.Thr308Ile	missense variant	-	NC_000006.12:g.158461626C>T	ExAC,TOPMed,gnomAD
rs1293284705	p.Leu310Phe	missense variant	-	NC_000006.12:g.158461631C>T	gnomAD
rs767103157	p.Leu310His	missense variant	-	NC_000006.12:g.158461632T>A	ExAC
rs1295220855	p.Glu312Lys	missense variant	-	NC_000006.12:g.158461637G>A	TOPMed
rs750292352	p.Pro314His	missense variant	-	NC_000006.12:g.158461644C>A	ExAC,gnomAD
rs536921467	p.Asn315Asp	missense variant	-	NC_000006.12:g.158461646A>G	1000Genomes,ExAC,gnomAD
rs536921467	p.Asn315His	missense variant	-	NC_000006.12:g.158461646A>C	1000Genomes,ExAC,gnomAD
rs1339293129	p.Asn315Ser	missense variant	-	NC_000006.12:g.158461647A>G	TOPMed,gnomAD
rs554756587	p.Gly316Ser	missense variant	-	NC_000006.12:g.158461649G>A	1000Genomes,ExAC,TOPMed
rs1428517884	p.Lys320Met	missense variant	-	NC_000006.12:g.158461662A>T	TOPMed,gnomAD
rs1170435749	p.Val324Ile	missense variant	-	NC_000006.12:g.158461673G>A	TOPMed
NCI-TCGA novel	p.Phe326Leu	missense variant	-	NC_000006.12:g.158461681C>A	NCI-TCGA
rs777950286	p.Asn328Ser	missense variant	-	NC_000006.12:g.158461686A>G	ExAC,gnomAD
rs774514456	p.Arg330Leu	missense variant	-	NC_000006.12:g.158461692G>T	ExAC,TOPMed,gnomAD
rs145043798	p.Arg330Ser	missense variant	-	NC_000006.12:g.158461691C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774514456	p.Arg330His	missense variant	-	NC_000006.12:g.158461692G>A	ExAC,TOPMed,gnomAD
rs1262375941	p.Ile334Val	missense variant	-	NC_000006.12:g.158461703A>G	gnomAD
rs1477577608	p.Phe335Cys	missense variant	-	NC_000006.12:g.158461707T>G	gnomAD
COSM6105755	p.Asp338Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158461715G>T	NCI-TCGA Cosmic
rs1420361480	p.Thr339Ile	missense variant	-	NC_000006.12:g.158461719C>T	gnomAD
rs1403837682	p.Leu340Phe	missense variant	-	NC_000006.12:g.158461721C>T	gnomAD
rs746193160	p.Val341Met	missense variant	-	NC_000006.12:g.158461724G>A	ExAC,TOPMed,gnomAD
rs377084462	p.Arg343Leu	missense variant	-	NC_000006.12:g.158479752G>T	ESP,ExAC,TOPMed,gnomAD
rs377084462	p.Arg343His	missense variant	-	NC_000006.12:g.158479752G>A	ESP,ExAC,TOPMed,gnomAD
rs372249713	p.Arg343Cys	missense variant	-	NC_000006.12:g.158479751C>T	ESP,ExAC,TOPMed,gnomAD
rs780632556	p.Pro344Ser	missense variant	-	NC_000006.12:g.158479754C>T	ExAC,TOPMed,gnomAD
rs747788632	p.Ile345Val	missense variant	-	NC_000006.12:g.158479757A>G	ExAC,TOPMed,gnomAD
rs1015307681	p.Ile346Val	missense variant	-	NC_000006.12:g.158479760A>G	TOPMed,gnomAD
rs1213932594	p.Ile348Val	missense variant	-	NC_000006.12:g.158479766A>G	gnomAD
NCI-TCGA novel	p.His352Asn	missense variant	-	NC_000006.12:g.158479778C>A	NCI-TCGA
rs772742406	p.Arg353Trp	missense variant	-	NC_000006.12:g.158479781C>T	ExAC,gnomAD
rs369096090	p.Arg353Gln	missense variant	-	NC_000006.12:g.158479782G>A	ESP,ExAC,TOPMed,gnomAD
rs770372195	p.Asp354Gly	missense variant	-	NC_000006.12:g.158479785A>G	ExAC,gnomAD
rs776528000	p.Ser355Leu	missense variant	-	NC_000006.12:g.158479788C>T	ExAC,gnomAD
rs775324726	p.Ala360Thr	missense variant	-	NC_000006.12:g.158479802G>A	ExAC,TOPMed,gnomAD
rs1402596308	p.Ala360Val	missense variant	-	NC_000006.12:g.158479803C>T	TOPMed
COSM3860051	p.Ser361Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158479806C>T	NCI-TCGA Cosmic
rs1208220438	p.Val367Met	missense variant	-	NC_000006.12:g.158479823G>A	gnomAD
rs764334620	p.Val368Leu	missense variant	-	NC_000006.12:g.158479826G>T	ExAC,gnomAD
COSM3022779	p.Arg369Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158479829C>T	NCI-TCGA Cosmic
rs757333877	p.Arg369His	missense variant	-	NC_000006.12:g.158479830G>A	ExAC,gnomAD
rs151289701	p.Arg373Gln	missense variant	-	NC_000006.12:g.158479842G>A	ESP,ExAC,TOPMed,gnomAD
rs374879139	p.Arg373Trp	missense variant	-	NC_000006.12:g.158479841C>T	ESP,ExAC,TOPMed,gnomAD
rs749598254	p.Val374Met	missense variant	-	NC_000006.12:g.158479844G>A	ExAC,TOPMed,gnomAD
rs749598254	p.Val374Leu	missense variant	-	NC_000006.12:g.158479844G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser376Asn	missense variant	-	NC_000006.12:g.158479851G>A	NCI-TCGA
rs1237730449	p.Ser376Thr	missense variant	-	NC_000006.12:g.158479851G>C	gnomAD
COSM3920993	p.Gln382Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.158479868C>T	NCI-TCGA Cosmic
rs140551958	p.Gln383His	missense variant	-	NC_000006.12:g.158479873G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770396603	p.Ala384Val	missense variant	-	NC_000006.12:g.158479875C>T	ExAC,gnomAD
rs1457723262	p.Ile385Val	missense variant	-	NC_000006.12:g.158479877A>G	TOPMed
rs1421032856	p.Ala386Thr	missense variant	-	NC_000006.12:g.158479880G>A	gnomAD
COSM740253	p.Ser387Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158479883A>T	NCI-TCGA Cosmic
rs745795781	p.Ser387Gly	missense variant	-	NC_000006.12:g.158479883A>G	ExAC,gnomAD
rs150475135	p.Arg390His	missense variant	-	NC_000006.12:g.158479893G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369232657	p.Arg390Ser	missense variant	-	NC_000006.12:g.158479892C>A	ESP,ExAC,gnomAD
rs150475135	p.Arg390Leu	missense variant	-	NC_000006.12:g.158479893G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369232657	p.Arg390Cys	missense variant	-	NC_000006.12:g.158479892C>T	ESP,ExAC,gnomAD
rs536877214	p.Asp392Glu	missense variant	-	NC_000006.12:g.158479900C>G	ExAC,TOPMed,gnomAD
rs1321312576	p.Lys393Gln	missense variant	-	NC_000006.12:g.158479901A>C	gnomAD
rs559917663	p.Asp394Asn	missense variant	-	NC_000006.12:g.158479904G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1431431459	p.Asp394Glu	missense variant	-	NC_000006.12:g.158479906C>G	TOPMed,gnomAD
rs138487081	p.Val395Ile	missense variant	-	NC_000006.12:g.158479907G>A	ESP,ExAC,TOPMed,gnomAD
rs1342464104	p.Ser396Gly	missense variant	-	NC_000006.12:g.158479910A>G	gnomAD
rs145013915	p.Pro402Arg	missense variant	-	NC_000006.12:g.158479929C>G	ESP,ExAC,TOPMed,gnomAD
rs145013915	p.Pro402Leu	missense variant	-	NC_000006.12:g.158479929C>T	ESP,ExAC,TOPMed,gnomAD
rs145013915	p.Pro402His	missense variant	-	NC_000006.12:g.158479929C>A	ESP,ExAC,TOPMed,gnomAD
rs746673748	p.Arg403Gly	missense variant	-	NC_000006.12:g.158479931C>G	ExAC,TOPMed,gnomAD
rs746673748	p.Arg403Cys	missense variant	-	NC_000006.12:g.158479931C>T	ExAC,TOPMed,gnomAD
rs746673748	p.Arg403Ser	missense variant	-	NC_000006.12:g.158479931C>A	ExAC,TOPMed,gnomAD
rs746002490	p.Arg403AlaPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.158479925C>-	NCI-TCGA,NCI-TCGA Cosmic
rs1265957995	p.Ser406Tyr	missense variant	-	NC_000006.12:g.158479941C>A	gnomAD
rs780838821	p.Tyr407Cys	missense variant	-	NC_000006.12:g.158479944A>G	ExAC,TOPMed,gnomAD
rs1192265578	p.Leu408Val	missense variant	-	NC_000006.12:g.158479946C>G	gnomAD
rs527286687	p.Ser409Cys	missense variant	-	NC_000006.12:g.158479950C>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Thr410Ile	missense variant	-	NC_000006.12:g.158479953C>T	NCI-TCGA
rs201169090	p.Thr410Ala	missense variant	-	NC_000006.12:g.158479952A>G	ExAC,gnomAD
rs1401012935	p.Phe412Leu	missense variant	-	NC_000006.12:g.158479958T>C	gnomAD
rs1398284747	p.Pro414Leu	missense variant	-	NC_000006.12:g.158479965C>T	gnomAD
rs749219648	p.Pro414Ser	missense variant	-	NC_000006.12:g.158479964C>T	ExAC,TOPMed,gnomAD
COSM3860052	p.Thr415Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158479967A>G	NCI-TCGA Cosmic
rs1356130973	p.Ile416Val	missense variant	-	NC_000006.12:g.158479970A>G	gnomAD
rs778454563	p.Lys417Arg	missense variant	-	NC_000006.12:g.158479974A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Pro419Ser	missense variant	-	NC_000006.12:g.158481058C>T	NCI-TCGA
rs1340065890	p.Ile420Thr	missense variant	-	NC_000006.12:g.158481062T>C	gnomAD
rs367711119	p.Ile420Val	missense variant	-	NC_000006.12:g.158481061A>G	ESP,ExAC,TOPMed,gnomAD
rs138863746	p.Pro423Leu	missense variant	-	NC_000006.12:g.158481071C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768420282	p.Asn425Ser	missense variant	-	NC_000006.12:g.158481077A>G	ExAC,gnomAD
rs778913391	p.Met426Thr	missense variant	-	NC_000006.12:g.158481080T>C	ExAC,gnomAD
rs1236055778	p.Met426Val	missense variant	-	NC_000006.12:g.158481079A>G	TOPMed,gnomAD
COSM6173039	p.Arg427Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158481083G>C	NCI-TCGA Cosmic
rs772012816	p.Asp428Glu	missense variant	-	NC_000006.12:g.158481087C>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp428Tyr	missense variant	-	NC_000006.12:g.158481085G>T	NCI-TCGA
NCI-TCGA novel	p.Val430Ile	missense variant	-	NC_000006.12:g.158481091G>A	NCI-TCGA
rs761019273	p.Val430Ala	missense variant	-	NC_000006.12:g.158481092T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser434Leu	missense variant	-	NC_000006.12:g.158481104C>T	NCI-TCGA
rs771039403	p.Ala435Ser	missense variant	-	NC_000006.12:g.158481106G>T	ExAC,gnomAD
rs553588228	p.Gly436Ser	missense variant	-	NC_000006.12:g.158481109G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs765599196	p.Asn437His	missense variant	-	NC_000006.12:g.158481112A>C	ExAC,gnomAD
rs549860418	p.Asn437Lys	missense variant	-	NC_000006.12:g.158481114C>G	ExAC,TOPMed,gnomAD
rs763279596	p.Glu438Lys	missense variant	-	NC_000006.12:g.158481115G>A	ExAC,gnomAD
rs763279596	p.Glu438Gln	missense variant	-	NC_000006.12:g.158481115G>C	ExAC,gnomAD
rs371117270	p.Arg439Gln	missense variant	-	NC_000006.12:g.158481119G>A	ESP,ExAC,gnomAD
rs750067930	p.Arg439Trp	missense variant	-	NC_000006.12:g.158481118C>T	ExAC,TOPMed,gnomAD
rs779770081	p.His441Arg	missense variant	-	NC_000006.12:g.158481125A>G	ExAC,gnomAD
rs376271444	p.Met444Val	missense variant	-	NC_000006.12:g.158481133A>G	ESP,TOPMed,gnomAD
rs376271444	p.Met444Leu	missense variant	-	NC_000006.12:g.158481133A>T	ESP,TOPMed,gnomAD
rs753219213	p.Arg446His	missense variant	-	NC_000006.12:g.158481140G>A	ExAC,TOPMed,gnomAD
rs1333534414	p.Arg446Cys	missense variant	-	NC_000006.12:g.158481139C>T	gnomAD
rs754545854	p.Glu448Gly	missense variant	-	NC_000006.12:g.158481146A>G	ExAC,gnomAD
rs778665255	p.Asp449Gly	missense variant	-	NC_000006.12:g.158481149A>G	ExAC,TOPMed,gnomAD
rs748147077	p.Asp450Asn	missense variant	-	NC_000006.12:g.158481151G>A	ExAC,TOPMed,gnomAD
rs201257857	p.Pro451Leu	missense variant	-	NC_000006.12:g.158481155C>T	1000Genomes,ExAC,gnomAD
rs1200162536	p.Pro451Ser	missense variant	-	NC_000006.12:g.158481154C>T	gnomAD
rs903657785	p.Glu452Val	missense variant	-	NC_000006.12:g.158481158A>T	TOPMed,gnomAD
COSM6173038	p.Val453Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158481161T>C	NCI-TCGA Cosmic
rs747221264	p.Gly454Ser	missense variant	-	NC_000006.12:g.158481163G>A	ExAC,gnomAD
rs1228890726	p.Gly455Asp	missense variant	-	NC_000006.12:g.158481167G>A	TOPMed
rs771004127	p.Gly455Ser	missense variant	-	NC_000006.12:g.158481166G>A	ExAC,TOPMed,gnomAD
rs776920426	p.Pro456Arg	missense variant	-	NC_000006.12:g.158481170C>G	ExAC,TOPMed,gnomAD
rs776920426	p.Pro456Leu	missense variant	-	NC_000006.12:g.158481170C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr459SerPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.158481179C>-	NCI-TCGA
rs200691398	p.Thr459Met	missense variant	-	NC_000006.12:g.158481179C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200691398	p.Thr459Arg	missense variant	-	NC_000006.12:g.158481179C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1351181379	p.Leu460Phe	missense variant	-	NC_000006.12:g.158481181C>T	TOPMed
rs762241882	p.Tyr461His	missense variant	-	NC_000006.12:g.158481184T>C	ExAC,gnomAD
rs1007854517	p.Leu462Arg	missense variant	-	NC_000006.12:g.158481188T>G	TOPMed,gnomAD
rs1163260175	p.Leu465Val	missense variant	-	NC_000006.12:g.158481196C>G	TOPMed
rs757109055	p.Arg475Trp	missense variant	-	NC_000006.12:g.158481226C>T	ExAC,gnomAD
rs374889085	p.Arg475Gln	missense variant	-	NC_000006.12:g.158481227G>A	ESP,ExAC,TOPMed,gnomAD
rs1157115722	p.Arg476His	missense variant	-	NC_000006.12:g.158481230G>A	gnomAD
rs1478225601	p.Arg476Cys	missense variant	-	NC_000006.12:g.158481229C>T	TOPMed,gnomAD
rs1195890495	p.Ile477Val	missense variant	-	NC_000006.12:g.158481232A>G	gnomAD
rs769756206	p.Lys479Asn	missense variant	-	NC_000006.12:g.158481240G>C	ExAC,gnomAD
rs746140045	p.Lys479Arg	missense variant	-	NC_000006.12:g.158481239A>G	ExAC,gnomAD
COSM5152524	p.Arg481Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158481245G>A	NCI-TCGA Cosmic
rs753531085	p.Arg481Trp	missense variant	-	NC_000006.12:g.158481244C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Glu483Lys	missense variant	-	NC_000006.12:g.158481250G>A	NCI-TCGA
rs749380819	p.Val485Ile	missense variant	-	NC_000006.12:g.158481256G>A	ExAC,TOPMed,gnomAD
rs544627542	p.Ile486Val	missense variant	-	NC_000006.12:g.158481259A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1401360589	p.Met487Leu	missense variant	-	NC_000006.12:g.158481262A>C	gnomAD
rs1275784512	p.Met487Ile	missense variant	-	NC_000006.12:g.158481264G>T	gnomAD
rs563190035	p.Asp488His	missense variant	-	NC_000006.12:g.158481265G>C	1000Genomes
rs762032568	p.Pro489Leu	missense variant	-	NC_000006.12:g.158481269C>T	ExAC,TOPMed,gnomAD
rs1339230296	p.Pro489Ser	missense variant	-	NC_000006.12:g.158481268C>T	gnomAD
rs1243789519	p.Arg490Leu	missense variant	-	NC_000006.12:g.158481272G>T	TOPMed,gnomAD
rs1243789519	p.Arg490Gln	missense variant	-	NC_000006.12:g.158481272G>A	TOPMed,gnomAD
rs201805785	p.Arg490Trp	missense variant	-	NC_000006.12:g.158481271C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3622373	p.Asp492Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158481277G>A	NCI-TCGA Cosmic
rs144739382	p.Ser493Asn	missense variant	-	NC_000006.12:g.158481281G>A	ESP,ExAC,TOPMed,gnomAD
rs1370936337	p.Ser493Arg	missense variant	-	NC_000006.12:g.158481282C>A	TOPMed
rs148234867	p.Lys494Gln	missense variant	-	NC_000006.12:g.158481283A>C	ESP,TOPMed,gnomAD
rs1279125219	p.Glu497Val	missense variant	-	NC_000006.12:g.158489591A>T	TOPMed,gnomAD
rs199636990	p.Ile498Val	missense variant	-	NC_000006.12:g.158489593A>G	ExAC,gnomAD
rs748591913	p.Tyr499Cys	missense variant	-	NC_000006.12:g.158489597A>G	ExAC,gnomAD
rs747653067	p.Leu503Phe	missense variant	-	NC_000006.12:g.158489610G>T	ExAC,gnomAD
COSM4839010	p.Ile504Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158489613T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser505Tyr	missense variant	-	NC_000006.12:g.158489615C>A	NCI-TCGA
rs1224444454	p.Thr506Asn	missense variant	-	NC_000006.12:g.158489618C>A	TOPMed,gnomAD
rs1224444454	p.Thr506Ile	missense variant	-	NC_000006.12:g.158489618C>T	TOPMed,gnomAD
rs1452481317	p.Thr506Ala	missense variant	-	NC_000006.12:g.158489617A>G	gnomAD
rs141271573	p.Val507Ala	missense variant	-	NC_000006.12:g.158489621T>C	ESP,ExAC,TOPMed,gnomAD
rs1479849470	p.Val507Met	missense variant	-	NC_000006.12:g.158489620G>A	gnomAD
rs1425089347	p.Ile508Thr	missense variant	-	NC_000006.12:g.158489624T>C	gnomAD
rs1476653870	p.Ile508Met	missense variant	-	NC_000006.12:g.158489625C>G	gnomAD
rs371686812	p.Asp509His	missense variant	-	NC_000006.12:g.158489626G>C	ESP,ExAC,gnomAD
rs371686812	p.Asp509Asn	missense variant	-	NC_000006.12:g.158489626G>A	ESP,ExAC,gnomAD
rs1391207193	p.Ser510Gly	missense variant	-	NC_000006.12:g.158489629A>G	gnomAD
rs762737646	p.Asn512Ser	missense variant	-	NC_000006.12:g.158489636A>G	ExAC,gnomAD
rs1299848842	p.Ser517Arg	missense variant	-	NC_000006.12:g.158489650A>C	TOPMed
rs1052243578	p.Ile519Val	missense variant	-	NC_000006.12:g.158489656A>G	TOPMed,gnomAD
rs761229271	p.Ile519Thr	missense variant	-	NC_000006.12:g.158489657T>C	ExAC,gnomAD
rs12206717	p.Ser522Asn	missense variant	-	NC_000006.12:g.158489666G>A	UniProt,dbSNP
VAR_052418	p.Ser522Asn	missense variant	-	NC_000006.12:g.158489666G>A	UniProt
rs12206717	p.Ser522Asn	missense variant	-	NC_000006.12:g.158489666G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750349343	p.Asp523Gly	missense variant	-	NC_000006.12:g.158489669A>G	ExAC,TOPMed,gnomAD
rs566110555	p.Ala527Val	missense variant	-	NC_000006.12:g.158489681C>T	TOPMed,gnomAD
COSM1075424	p.Lys528Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158489685G>T	NCI-TCGA Cosmic
rs1357579838	p.Ser530Pro	missense variant	-	NC_000006.12:g.158489689T>C	gnomAD
COSM3622374	p.Ser530Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158489690C>T	NCI-TCGA Cosmic
rs139803752	p.Pro531Ser	missense variant	-	NC_000006.12:g.158489692C>T	ESP,ExAC,TOPMed,gnomAD
rs766200192	p.Lys532Gln	missense variant	-	NC_000006.12:g.158489695A>C	ExAC,TOPMed,gnomAD
rs754053321	p.Ser534Thr	missense variant	-	NC_000006.12:g.158489701T>A	ExAC,TOPMed,gnomAD
rs61742077	p.Ser537Asn	missense variant	-	NC_000006.12:g.158489711G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765393754	p.Ser537Arg	missense variant	-	NC_000006.12:g.158489712C>A	ExAC,gnomAD
rs147152538	p.Lys538Thr	missense variant	-	NC_000006.12:g.158489714A>C	ESP
rs752755828	p.Lys541Arg	missense variant	-	NC_000006.12:g.158489723A>G	ExAC,gnomAD
COSM73170	p.Lys541Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158489722A>G	NCI-TCGA Cosmic
rs1192103554	p.Lys541Gln	missense variant	-	NC_000006.12:g.158489722A>C	gnomAD
rs1161215196	p.Pro543Leu	missense variant	-	NC_000006.12:g.158489729C>T	TOPMed,gnomAD
rs1281336831	p.Arg544Lys	missense variant	-	NC_000006.12:g.158489732G>A	TOPMed
rs758485455	p.Ser546Arg	missense variant	-	NC_000006.12:g.158493579C>G	ExAC,gnomAD
rs200678787	p.Ile547Thr	missense variant	-	NC_000006.12:g.158493581T>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM6173037	p.Glu548Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158493583G>C	NCI-TCGA Cosmic
rs1158093109	p.Ala549Thr	missense variant	-	NC_000006.12:g.158493586G>A	gnomAD
rs371491042	p.Arg550Leu	missense variant	-	NC_000006.12:g.158493590G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200035868	p.Arg550Cys	missense variant	-	NC_000006.12:g.158493589C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs371491042	p.Arg550His	missense variant	-	NC_000006.12:g.158493590G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1427738325	p.Pro553His	missense variant	-	NC_000006.12:g.158493599C>A	TOPMed
rs887767409	p.Lys554Arg	missense variant	-	NC_000006.12:g.158493602A>G	TOPMed
rs746192901	p.Pro556His	missense variant	-	NC_000006.12:g.158493608C>A	ExAC,gnomAD
rs140306537	p.Arg557Trp	missense variant	-	NC_000006.12:g.158493610C>T	ESP,gnomAD
rs748375243	p.Arg557Gln	missense variant	-	NC_000006.12:g.158493611G>A	ExAC,TOPMed,gnomAD
rs748375243	p.Arg557Leu	missense variant	-	NC_000006.12:g.158493611G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser563ProPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.158493625_158493626CT>-	NCI-TCGA
rs771607306	p.Arg564Trp	missense variant	-	NC_000006.12:g.158493631C>T	ExAC,gnomAD
rs1346424120	p.Arg564Gln	missense variant	-	NC_000006.12:g.158493632G>A	gnomAD
COSM6105754	p.Arg567Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158493641G>T	NCI-TCGA Cosmic
rs1262105765	p.Arg567Trp	missense variant	-	NC_000006.12:g.158493640C>T	gnomAD
rs746537100	p.Arg567Gln	missense variant	-	NC_000006.12:g.158493641G>A	ExAC,TOPMed,gnomAD
rs746537100	p.Arg567Gln	missense variant	-	NC_000006.12:g.158493641G>A	NCI-TCGA,NCI-TCGA Cosmic
rs776583095	p.Pro569Leu	missense variant	-	NC_000006.12:g.158493647C>T	ExAC,gnomAD
rs149680271	p.Arg571His	missense variant	-	NC_000006.12:g.158493653G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM316313	p.Arg571Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158493652C>T	NCI-TCGA Cosmic
rs1199409058	p.Lys572Met	missense variant	-	NC_000006.12:g.158493656A>T	gnomAD
rs751618718	p.Gly576Asp	missense variant	-	NC_000006.12:g.158493668G>A	ExAC,gnomAD
rs150873405	p.Gly576Cys	missense variant	-	NC_000006.12:g.158493667G>T	1000Genomes,ESP,TOPMed,gnomAD
rs150873405	p.Gly576Ser	missense variant	-	NC_000006.12:g.158493667G>A	1000Genomes,ESP,TOPMed,gnomAD
rs1391326303	p.Ser577Leu	missense variant	-	NC_000006.12:g.158493671C>T	gnomAD
rs756467792	p.Arg582Gln	missense variant	-	NC_000006.12:g.158493686G>A	ExAC,gnomAD
rs751015565	p.Arg582Trp	missense variant	-	NC_000006.12:g.158493685C>T	ExAC,TOPMed,gnomAD
rs780349220	p.Glu584Val	missense variant	-	NC_000006.12:g.158493692A>T	ExAC,TOPMed,gnomAD
rs752381396	p.Pro586Arg	missense variant	-	NC_000006.12:g.158493698C>G	ExAC,gnomAD
COSM4396504	p.Pro586Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158493697C>T	NCI-TCGA Cosmic
rs752381396	p.Pro586His	missense variant	-	NC_000006.12:g.158493698C>A	ExAC,gnomAD
rs746484353	p.Ile590Val	missense variant	-	NC_000006.12:g.158493709A>G	ExAC,gnomAD
rs770451738	p.Thr591Ala	missense variant	-	NC_000006.12:g.158493712A>G	ExAC,gnomAD
rs780750624	p.His593Tyr	missense variant	-	NC_000006.12:g.158494753C>T	ExAC,TOPMed,gnomAD
rs535814004	p.Tyr595Cys	missense variant	-	NC_000006.12:g.158494760A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs535814004	p.Tyr595Ser	missense variant	-	NC_000006.12:g.158494760A>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala597Asp	missense variant	-	NC_000006.12:g.158494766C>A	NCI-TCGA
rs1245163706	p.Ala597Gly	missense variant	-	NC_000006.12:g.158494766C>G	TOPMed,gnomAD
rs1445880586	p.Gln598His	missense variant	-	NC_000006.12:g.158494770G>T	TOPMed
COSM3829549	p.Gln598Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158494769A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln598Ter	stop gained	-	NC_000006.12:g.158494768C>T	NCI-TCGA
COSM1075425	p.Thr600Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158494775C>T	NCI-TCGA Cosmic
rs768617345	p.Ser601Ala	missense variant	-	NC_000006.12:g.158494777T>G	ExAC,gnomAD
rs1475444215	p.Asn602Ser	missense variant	-	NC_000006.12:g.158494781A>G	gnomAD
NCI-TCGA novel	p.Gly605Ter	stop gained	-	NC_000006.12:g.158494789G>T	NCI-TCGA
rs1396304189	p.Thr606Pro	missense variant	-	NC_000006.12:g.158494792A>C	TOPMed
rs1240628969	p.Thr606Asn	missense variant	-	NC_000006.12:g.158494793C>A	gnomAD
NCI-TCGA novel	p.Lys607Asn	missense variant	-	NC_000006.12:g.158494797A>C	NCI-TCGA
rs1485683713	p.Ala614Thr	missense variant	-	NC_000006.12:g.158494816G>A	gnomAD
rs774681883	p.Ala614Asp	missense variant	-	NC_000006.12:g.158494817C>A	ExAC,gnomAD
rs762190460	p.Ala615Val	missense variant	-	NC_000006.12:g.158494820C>T	ExAC,gnomAD
rs772265969	p.Phe616Leu	missense variant	-	NC_000006.12:g.158494824C>G	ExAC,TOPMed,gnomAD
rs1183591312	p.Phe616Leu	missense variant	-	NC_000006.12:g.158494822T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Pro618Ser	missense variant	-	NC_000006.12:g.158494828C>T	NCI-TCGA
rs766755286	p.Thr619Ala	missense variant	-	NC_000006.12:g.158494831A>G	ExAC,TOPMed,gnomAD
rs777218871	p.Asn620Ser	missense variant	-	NC_000006.12:g.158494835A>G	ExAC,gnomAD
rs759798360	p.Asn620Lys	missense variant	-	NC_000006.12:g.158494836C>A	ExAC,gnomAD
rs1451640662	p.Ala623Thr	missense variant	-	NC_000006.12:g.158494843G>A	gnomAD
rs541828029	p.Ile625Phe	missense variant	-	NC_000006.12:g.158498671A>T	1000Genomes,ExAC,gnomAD
rs541828029	p.Ile625Val	missense variant	-	NC_000006.12:g.158498671A>G	1000Genomes,ExAC,gnomAD
rs753703206	p.Ile625Thr	missense variant	-	NC_000006.12:g.158498672T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro635Leu	missense variant	-	NC_000006.12:g.158498702C>T	NCI-TCGA
NCI-TCGA novel	p.Arg636Trp	missense variant	-	NC_000006.12:g.158498704C>T	NCI-TCGA
NCI-TCGA novel	p.Arg636Gln	missense variant	-	NC_000006.12:g.158498705G>A	NCI-TCGA
COSM270480	p.Gln637Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158498708A>G	NCI-TCGA Cosmic
rs1422654146	p.Val645Ile	missense variant	-	NC_000006.12:g.158498731G>A	TOPMed
rs1350378763	p.Val645Ala	missense variant	-	NC_000006.12:g.158498732T>C	gnomAD
rs142940235	p.Arg646Trp	missense variant	-	NC_000006.12:g.158498734C>T	ESP,ExAC,gnomAD
rs527631392	p.Arg646Gln	missense variant	-	NC_000006.12:g.158498735G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys647Arg	missense variant	-	NC_000006.12:g.158498738A>G	NCI-TCGA
NCI-TCGA novel	p.Ile648Met	missense variant	-	NC_000006.12:g.158498742T>G	NCI-TCGA
NCI-TCGA novel	p.Ile648Leu	missense variant	-	NC_000006.12:g.158498740A>C	NCI-TCGA
rs146628860	p.Ser649Pro	missense variant	-	NC_000006.12:g.158498743T>C	ESP,ExAC,TOPMed,gnomAD
rs745964477	p.Met650Val	missense variant	-	NC_000006.12:g.158498746A>G	ExAC,TOPMed,gnomAD
rs745964477	p.Met650Leu	missense variant	-	NC_000006.12:g.158498746A>C	ExAC,TOPMed,gnomAD
COSM3860056	p.Asp651Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158498749G>A	NCI-TCGA Cosmic
rs1279059309	p.Tyr652Cys	missense variant	-	NC_000006.12:g.158498753A>G	gnomAD
rs770222927	p.Asn654Ser	missense variant	-	NC_000006.12:g.158498759A>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro660Ser	missense variant	-	NC_000006.12:g.158498776C>T	NCI-TCGA
rs920300732	p.Ser664Thr	missense variant	-	NC_000006.12:g.158498789G>C	TOPMed
rs935492578	p.Glu665Asp	missense variant	-	NC_000006.12:g.158498793A>C	TOPMed
rs763277831	p.Asp666Gly	missense variant	-	NC_000006.12:g.158498795A>G	ExAC,gnomAD
rs772732410	p.Asp668Tyr	missense variant	-	NC_000006.12:g.158498800G>T	ExAC,gnomAD
rs760431465	p.Asp669Glu	missense variant	-	NC_000006.12:g.158498805T>G	ExAC,TOPMed,gnomAD
rs1490040503	p.Pro671Ser	missense variant	-	NC_000006.12:g.158498809C>T	gnomAD
rs770577376	p.Thr673Ile	missense variant	-	NC_000006.12:g.158501681C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly674Glu	missense variant	-	NC_000006.12:g.158501684G>A	NCI-TCGA
rs374310070	p.Gly677Asp	missense variant	-	NC_000006.12:g.158501693G>A	ESP,ExAC,TOPMed,gnomAD
rs367867177	p.Pro679Leu	missense variant	-	NC_000006.12:g.158501699C>T	ESP,TOPMed
COSM1075427	p.Glu680Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158501703G>T	NCI-TCGA Cosmic
rs1018145381	p.Pro684Thr	missense variant	-	NC_000006.12:g.158501713C>A	TOPMed,gnomAD
rs763008697	p.Val687Met	missense variant	-	NC_000006.12:g.158501722G>A	ExAC,TOPMed,gnomAD
COSM450809	p.Ile691Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158501735T>C	NCI-TCGA Cosmic
rs553265161	p.His695Arg	missense variant	-	NC_000006.12:g.158501747A>G	1000Genomes,ExAC,gnomAD
rs1429761789	p.Ser696Arg	missense variant	-	NC_000006.12:g.158501751C>G	TOPMed
rs577929133	p.Ser697Leu	missense variant	-	NC_000006.12:g.158501753C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs756178566	p.Ala698Val	missense variant	-	NC_000006.12:g.158501756C>T	ExAC,gnomAD
rs780163148	p.Met701Val	missense variant	-	NC_000006.12:g.158501764A>G	ExAC,TOPMed,gnomAD
rs749381173	p.Ser702Pro	missense variant	-	NC_000006.12:g.158501767T>C	ExAC,gnomAD
rs1485774350	p.Pro703Ser	missense variant	-	NC_000006.12:g.158501770C>T	TOPMed
rs748496837	p.Thr704Met	missense variant	-	NC_000006.12:g.158501774C>T	ExAC,gnomAD
rs1225135825	p.Gln705Arg	missense variant	-	NC_000006.12:g.158501777A>G	TOPMed
rs772371588	p.Ser706Asn	missense variant	-	NC_000006.12:g.158501780G>A	ExAC,TOPMed,gnomAD
rs745584739	p.Ile707Thr	missense variant	-	NC_000006.12:g.158501783T>C	ExAC,gnomAD
rs1405730748	p.Gly708Ala	missense variant	-	NC_000006.12:g.158501786G>C	gnomAD
rs769418143	p.Val710Leu	missense variant	-	NC_000006.12:g.158501791G>T	ExAC,gnomAD
rs775084559	p.Gln711Arg	missense variant	-	NC_000006.12:g.158501795A>G	ExAC,TOPMed,gnomAD
rs1351236633	p.Ala715Val	missense variant	-	NC_000006.12:g.158501807C>T	gnomAD
rs1275119565	p.Val719Met	missense variant	-	NC_000006.12:g.158501818G>A	TOPMed,gnomAD
rs1221261270	p.Leu721Pro	missense variant	-	NC_000006.12:g.158501825T>C	gnomAD
rs372165583	p.Thr728Met	missense variant	-	NC_000006.12:g.158501846C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767363595	p.Ala730Gly	missense variant	-	NC_000006.12:g.158501852C>G	ExAC,TOPMed,gnomAD
rs761633422	p.Ala730Pro	missense variant	-	NC_000006.12:g.158501851G>C	ExAC,gnomAD
rs767363595	p.Ala730Val	missense variant	-	NC_000006.12:g.158501852C>T	ExAC,TOPMed,gnomAD
rs377659848	p.Val731Ile	missense variant	-	NC_000006.12:g.158501854G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs756268522	p.Gly732Arg	missense variant	-	NC_000006.12:g.158501857G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly732Ala	missense variant	-	NC_000006.12:g.158501858G>C	NCI-TCGA
rs1364638915	p.Gly732Glu	missense variant	-	NC_000006.12:g.158501858G>A	TOPMed
rs766591076	p.Thr733Ile	missense variant	-	NC_000006.12:g.158501861C>T	ExAC,gnomAD
rs542351754	p.Ala737Gly	missense variant	-	NC_000006.12:g.158501873C>G	1000Genomes,ExAC,gnomAD
rs542351754	p.Ala737Val	missense variant	-	NC_000006.12:g.158501873C>T	1000Genomes,ExAC,gnomAD
rs779453019	p.Gly738Ser	missense variant	-	NC_000006.12:g.158501875G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp739Asn	missense variant	-	NC_000006.12:g.158501878G>A	NCI-TCGA
rs1038358222	p.Ala741Val	missense variant	-	NC_000006.12:g.158501885C>T	TOPMed
rs375562716	p.Ala741Thr	missense variant	-	NC_000006.12:g.158501884G>A	ESP,ExAC,gnomAD
rs1391270469	p.Tyr744Phe	missense variant	-	NC_000006.12:g.158501894A>T	gnomAD
rs1346777862	p.Pro745Leu	missense variant	-	NC_000006.12:g.158501897C>T	gnomAD
NCI-TCGA novel	p.Ser747Cys	missense variant	-	NC_000006.12:g.158501903C>G	NCI-TCGA
rs769506508	p.Asn748Ser	missense variant	-	NC_000006.12:g.158501906A>G	ExAC,gnomAD
rs1001444867	p.Arg749Trp	missense variant	-	NC_000006.12:g.158501908C>T	TOPMed,gnomAD
rs775316063	p.Arg749Gln	missense variant	-	NC_000006.12:g.158501909G>A	ExAC,TOPMed,gnomAD
rs141473493	p.Ser751Tyr	missense variant	-	NC_000006.12:g.158501915C>A	ESP,TOPMed
rs748787269	p.Ser751Thr	missense variant	-	NC_000006.12:g.158501914T>A	ExAC,TOPMed,gnomAD
rs1338705878	p.Asn752Ile	missense variant	-	NC_000006.12:g.158501918A>T	gnomAD
NCI-TCGA novel	p.Pro753Leu	missense variant	-	NC_000006.12:g.158501921C>T	NCI-TCGA
rs774337708	p.Pro753Ser	missense variant	-	NC_000006.12:g.158501920C>T	ExAC,gnomAD
rs1490611037	p.Val756Met	missense variant	-	NC_000006.12:g.158501929G>A	TOPMed
rs760492393	p.Gly759Arg	missense variant	-	NC_000006.12:g.158501938G>A	ExAC,gnomAD
rs369570435	p.Val761Met	missense variant	-	NC_000006.12:g.158501944G>A	ESP,ExAC,TOPMed,gnomAD
rs755055501	p.Met763Ile	missense variant	-	NC_000006.12:g.158501952G>T	ExAC,TOPMed,gnomAD
rs1461923423	p.Gly764Ser	missense variant	-	NC_000006.12:g.158501953G>A	gnomAD
rs201414647	p.Arg765Cys	missense variant	-	NC_000006.12:g.158501956C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200671698	p.Arg765His	missense variant	-	NC_000006.12:g.158501957G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1302202214	p.Ile766Val	missense variant	-	NC_000006.12:g.158501959A>G	gnomAD
rs778431472	p.Ile767Ser	missense variant	-	NC_000006.12:g.158501963T>G	ExAC,gnomAD
rs1246702119	p.Asn769Lys	missense variant	-	NC_000006.12:g.158501970C>G	TOPMed,gnomAD
rs1246702119	p.Asn769Lys	missense variant	-	NC_000006.12:g.158501970C>A	TOPMed,gnomAD
rs1293185919	p.Asn769Tyr	missense variant	-	NC_000006.12:g.158501968A>T	gnomAD
rs757723385	p.Asn769Thr	missense variant	-	NC_000006.12:g.158501969A>C	ExAC,gnomAD
rs779835091	p.Pro770Ser	missense variant	-	NC_000006.12:g.158501971C>T	ExAC,gnomAD
rs1361729360	p.Pro770Leu	missense variant	-	NC_000006.12:g.158501972C>T	gnomAD
rs779835091	p.Pro770Thr	missense variant	-	NC_000006.12:g.158501971C>A	ExAC,gnomAD
rs1291063349	p.Pro771Thr	missense variant	-	NC_000006.12:g.158501974C>A	TOPMed,gnomAD
rs768196847	p.Pro771Arg	missense variant	-	NC_000006.12:g.158501975C>G	ExAC,TOPMed,gnomAD
rs768196847	p.Pro771Leu	missense variant	-	NC_000006.12:g.158501975C>T	ExAC,TOPMed,gnomAD
rs1291063349	p.Pro771Ser	missense variant	-	NC_000006.12:g.158501974C>T	TOPMed,gnomAD
rs1260100908	p.Pro772Ser	missense variant	-	NC_000006.12:g.158501977C>T	gnomAD
rs747695489	p.Leu773Val	missense variant	-	NC_000006.12:g.158501980C>G	ExAC,gnomAD
rs563523785	p.Ser774Pro	missense variant	-	NC_000006.12:g.158501983T>C	1000Genomes,ExAC,gnomAD
rs1162413383	p.Pro777Ser	missense variant	-	NC_000006.12:g.158501992C>T	gnomAD
rs1345199780	p.Pro777Leu	missense variant	-	NC_000006.12:g.158501993C>T	TOPMed,gnomAD
rs1345199780	p.Pro777Arg	missense variant	-	NC_000006.12:g.158501993C>G	TOPMed,gnomAD
COSM3622376	p.Pro778Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158501995C>T	NCI-TCGA Cosmic
rs146775344	p.Pro778Leu	missense variant	-	NC_000006.12:g.158501996C>T	ESP,ExAC,TOPMed,gnomAD
rs146775344	p.Pro778Arg	missense variant	-	NC_000006.12:g.158501996C>G	ESP,ExAC,TOPMed,gnomAD
rs765498716	p.Pro779Leu	missense variant	-	NC_000006.12:g.158501999C>T	ExAC,TOPMed,gnomAD
rs1317132520	p.Gln780Arg	missense variant	-	NC_000006.12:g.158502002A>G	gnomAD
rs764652771	p.Gly781Arg	missense variant	-	NC_000006.12:g.158502004G>A	ExAC,gnomAD
rs752147721	p.Met783Ile	missense variant	-	NC_000006.12:g.158502012G>T	ExAC,gnomAD
rs1198103249	p.Gln784His	missense variant	-	NC_000006.12:g.158502015G>C	TOPMed
rs150422279	p.Thr787Met	missense variant	-	NC_000006.12:g.158502023C>T	ESP,ExAC,TOPMed,gnomAD
rs1391050838	p.Thr787Ala	missense variant	-	NC_000006.12:g.158502022A>G	gnomAD
rs750807378	p.Val788Met	missense variant	-	NC_000006.12:g.158502025G>A	ExAC,TOPMed,gnomAD
rs750807378	p.Val788Leu	missense variant	-	NC_000006.12:g.158502025G>C	ExAC,TOPMed,gnomAD
rs778651745	p.Gly789Ser	missense variant	-	NC_000006.12:g.158502028G>A	ExAC
COSM1075429	p.Gly789Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158502028G>T	NCI-TCGA Cosmic
rs747618579	p.His790Gln	missense variant	-	NC_000006.12:g.158502033T>A	ExAC,gnomAD
rs537043044	p.Gly791Arg	missense variant	-	NC_000006.12:g.158502034G>C	gnomAD
NCI-TCGA novel	p.Gly791Ala	missense variant	-	NC_000006.12:g.158502035G>C	NCI-TCGA
rs537043044	p.Gly791Arg	missense variant	-	NC_000006.12:g.158502034G>A	gnomAD
rs1443334925	p.Asp792Gly	missense variant	-	NC_000006.12:g.158502038A>G	gnomAD
rs771610737	p.Arg793Gln	missense variant	-	NC_000006.12:g.158502041G>A	ExAC,gnomAD
rs373496007	p.His795Gln	missense variant	-	NC_000006.12:g.158502048C>G	1000Genomes,ESP,ExAC,gnomAD
rs1224022984	p.Glu796Lys	missense variant	-	NC_000006.12:g.158502049G>A	TOPMed
rs1362834473	p.His797Gln	missense variant	-	NC_000006.12:g.158502054C>A	gnomAD
rs770707193	p.His797Leu	missense variant	-	NC_000006.12:g.158502053A>T	ExAC,gnomAD
rs1291341713	p.Gln799Glu	missense variant	-	NC_000006.12:g.158502058C>G	gnomAD
NCI-TCGA novel	p.Gln799Ter	stop gained	-	NC_000006.12:g.158502058C>T	NCI-TCGA
rs776221213	p.Lys800Met	missense variant	-	NC_000006.12:g.158502062A>T	ExAC,gnomAD
rs1338490078	p.Lys800Glu	missense variant	-	NC_000006.12:g.158502061A>G	gnomAD
rs1298666012	p.Ser801Leu	missense variant	-	NC_000006.12:g.158502065C>T	gnomAD
rs922168133	p.Ala802Val	missense variant	-	NC_000006.12:g.158502068C>T	-
COSM5724804	p.Ala804Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158502074C>T	NCI-TCGA Cosmic
rs375609118	p.Ala804Thr	missense variant	-	NC_000006.12:g.158502073G>A	ESP,gnomAD
rs764313685	p.Arg806Gln	missense variant	-	NC_000006.12:g.158502080G>A	ExAC,gnomAD
rs534676989	p.Arg806Trp	missense variant	-	NC_000006.12:g.158502079C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs752112650	p.Thr808Ala	missense variant	-	NC_000006.12:g.158502085A>G	ExAC,gnomAD
rs138229082	p.Pro809Thr	missense variant	-	NC_000006.12:g.158502088C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199894898	p.Pro809Leu	missense variant	-	NC_000006.12:g.158502089C>T	ESP,ExAC,TOPMed,gnomAD
rs764765955	p.Gln810Glu	missense variant	-	NC_000006.12:g.158502091C>G	ExAC,TOPMed,gnomAD
rs1427012098	p.Ala812Val	missense variant	-	NC_000006.12:g.158502098C>T	gnomAD
rs1469097121	p.Ala813Val	missense variant	-	NC_000006.12:g.158502101C>T	gnomAD
rs151253671	p.Asp816Glu	missense variant	-	NC_000006.12:g.158502111C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1479422149	p.Asp816Gly	missense variant	-	NC_000006.12:g.158502110A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ala817Ser	missense variant	-	NC_000006.12:g.158502112G>T	NCI-TCGA
rs777331493	p.Ala817Thr	missense variant	-	NC_000006.12:g.158502112G>A	ExAC,TOPMed,gnomAD
rs1285429061	p.Ser821Ile	missense variant	-	NC_000006.12:g.158502125G>T	TOPMed,gnomAD
rs1285429061	p.Ser821Asn	missense variant	-	NC_000006.12:g.158502125G>A	TOPMed,gnomAD
rs370813346	p.Ser821Gly	missense variant	-	NC_000006.12:g.158502124A>G	ESP,ExAC,TOPMed,gnomAD
rs781208870	p.Ala822Val	missense variant	-	NC_000006.12:g.158502128C>T	ExAC,TOPMed,gnomAD
rs745606459	p.Pro823Ser	missense variant	-	NC_000006.12:g.158502130C>T	ExAC,gnomAD
rs745606459	p.Pro823Thr	missense variant	-	NC_000006.12:g.158502130C>A	ExAC,gnomAD
COSM1441865	p.Gln824ProPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.158502127_158502128insC	NCI-TCGA Cosmic
COSM1441866	p.Gln824ArgPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.158502128C>-	NCI-TCGA Cosmic
rs775828886	p.Gln827His	missense variant	-	NC_000006.12:g.158502144G>C	ExAC,TOPMed,gnomAD
rs747790615	p.Val828Leu	missense variant	-	NC_000006.12:g.158502145G>T	ExAC,gnomAD
rs769007655	p.Thr829Met	missense variant	-	NC_000006.12:g.158502149C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys830Asn	missense variant	-	NC_000006.12:g.158502153G>C	NCI-TCGA
rs1186921449	p.Pro834Leu	missense variant	-	NC_000006.12:g.158502164C>T	gnomAD
rs199951730	p.Pro835Ala	missense variant	-	NC_000006.12:g.158502166C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs199951730	p.Pro835Ser	missense variant	-	NC_000006.12:g.158502166C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs746814656	p.Pro836Ala	missense variant	-	NC_000006.12:g.158502169C>G	ExAC,TOPMed,gnomAD
rs760926230	p.Pro836Gln	missense variant	-	NC_000006.12:g.158502170C>A	ExAC,TOPMed,gnomAD
rs746814656	p.Pro836Ser	missense variant	-	NC_000006.12:g.158502169C>T	ExAC,TOPMed,gnomAD
rs760926230	p.Pro836Leu	missense variant	-	NC_000006.12:g.158502170C>T	ExAC,TOPMed,gnomAD
rs1305245876	p.Pro838Ala	missense variant	-	NC_000006.12:g.158502175C>G	gnomAD
rs1305245876	p.Pro838Ser	missense variant	-	NC_000006.12:g.158502175C>T	gnomAD
rs752341487	p.Gly839Glu	missense variant	-	NC_000006.12:g.158502179G>A	ExAC,TOPMed,gnomAD
rs1402850096	p.Pro842Ser	missense variant	-	NC_000006.12:g.158502187C>T	TOPMed
rs1158368747	p.Ala843Val	missense variant	-	NC_000006.12:g.158502191C>T	TOPMed
rs376485331	p.Ala843Thr	missense variant	-	NC_000006.12:g.158502190G>A	gnomAD
rs376485331	p.Ala843Ser	missense variant	-	NC_000006.12:g.158502190G>T	gnomAD
rs763748362	p.Ala844Val	missense variant	-	NC_000006.12:g.158502194C>T	ExAC,TOPMed,gnomAD
rs763748362	p.Ala844Asp	missense variant	-	NC_000006.12:g.158502194C>A	ExAC,TOPMed,gnomAD
rs1224041966	p.Thr846Ile	missense variant	-	NC_000006.12:g.158502200C>T	gnomAD
rs901713887	p.Thr846Pro	missense variant	-	NC_000006.12:g.158502199A>C	TOPMed,gnomAD
rs745864125	p.Thr847Ile	missense variant	-	NC_000006.12:g.158502203C>T	ExAC,TOPMed,gnomAD
rs1450691746	p.Thr847Ala	missense variant	-	NC_000006.12:g.158502202A>G	TOPMed,gnomAD
rs1450691746	p.Thr847Pro	missense variant	-	NC_000006.12:g.158502202A>C	TOPMed,gnomAD
rs755844770	p.Ala848Thr	missense variant	-	NC_000006.12:g.158502205G>A	ExAC,TOPMed,gnomAD
rs755844770	p.Ala848Pro	missense variant	-	NC_000006.12:g.158502205G>C	ExAC,TOPMed,gnomAD
rs1474303069	p.Ala849Glu	missense variant	-	NC_000006.12:g.158502209C>A	gnomAD
rs1046629077	p.Pro850Ala	missense variant	-	NC_000006.12:g.158502211C>G	TOPMed
rs1187898260	p.Pro851Ser	missense variant	-	NC_000006.12:g.158502214C>T	gnomAD
rs201087459	p.Pro851Arg	missense variant	-	NC_000006.12:g.158502215C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs201087459	p.Pro851Leu	missense variant	-	NC_000006.12:g.158502215C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1363716439	p.Pro852His	missense variant	-	NC_000006.12:g.158502218C>A	gnomAD
rs1165579028	p.Pro852Ser	missense variant	-	NC_000006.12:g.158502217C>T	gnomAD
rs768954306	p.Pro853Arg	missense variant	-	NC_000006.12:g.158502221C>G	ExAC
rs1347386801	p.Leu854Pro	missense variant	-	NC_000006.12:g.158502224T>C	gnomAD
rs748148323	p.Pro855Leu	missense variant	-	NC_000006.12:g.158502227C>T	ExAC,TOPMed,gnomAD
rs1228835924	p.Pro855Ser	missense variant	-	NC_000006.12:g.158502226C>T	gnomAD
rs1248721953	p.Pro856Ser	missense variant	-	NC_000006.12:g.158502229C>T	gnomAD
rs1346266665	p.Pro856His	missense variant	-	NC_000006.12:g.158502230C>A	TOPMed
rs773578624	p.Gln858His	missense variant	-	NC_000006.12:g.158502237G>C	ExAC,gnomAD
rs1205422350	p.Gln858Pro	missense variant	-	NC_000006.12:g.158502236A>C	gnomAD
rs200458345	p.Pro859His	missense variant	-	NC_000006.12:g.158502239C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200458345	p.Pro859Arg	missense variant	-	NC_000006.12:g.158502239C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200458345	p.Pro859Leu	missense variant	-	NC_000006.12:g.158502239C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761310513	p.Pro859Thr	missense variant	-	NC_000006.12:g.158502238C>A	ExAC,gnomAD
rs935440800	p.Pro860Ser	missense variant	-	NC_000006.12:g.158502241C>T	TOPMed
NCI-TCGA novel	p.Leu865Phe	missense variant	-	NC_000006.12:g.158502258G>C	NCI-TCGA
rs763693329	p.Lys866Met	missense variant	-	NC_000006.12:g.158502260A>T	ExAC,gnomAD
rs1226179660	p.Lys867Glu	missense variant	-	NC_000006.12:g.158502262A>G	TOPMed,gnomAD
rs1366854315	p.Gly868Arg	missense variant	-	NC_000006.12:g.158502265G>C	gnomAD
rs1159407392	p.Asp869Asn	missense variant	-	NC_000006.12:g.158502268G>A	TOPMed,gnomAD
rs572810348	p.Ser871Cys	missense variant	-	NC_000006.12:g.158502275C>G	1000Genomes,ExAC,gnomAD
rs749910397	p.Leu872Ile	missense variant	-	NC_000006.12:g.158502277C>A	ExAC,gnomAD
rs749910397	p.Leu872Phe	missense variant	-	NC_000006.12:g.158502277C>T	ExAC,gnomAD
rs756025386	p.Pro874His	missense variant	-	NC_000006.12:g.158502284C>A	ExAC,gnomAD
rs753648417	p.Thr875Met	missense variant	-	NC_000006.12:g.158502287C>T	ExAC,TOPMed,gnomAD
rs368831811	p.Val877Ala	missense variant	-	NC_000006.12:g.158502293T>C	gnomAD
rs779257037	p.His878Gln	missense variant	-	NC_000006.12:g.158502297C>G	ExAC,TOPMed,gnomAD
rs1348133217	p.His878Arg	missense variant	-	NC_000006.12:g.158502296A>G	gnomAD
rs748462054	p.Tyr879His	missense variant	-	NC_000006.12:g.158502298T>C	ExAC,gnomAD
rs772040480	p.Gln880His	missense variant	-	NC_000006.12:g.158502303G>C	ExAC,gnomAD
NCI-TCGA novel	p.Pro882Leu	missense variant	-	NC_000006.12:g.158502308C>T	NCI-TCGA
COSM5869676	p.Leu883TrpPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.158502305C>-	NCI-TCGA Cosmic
rs1441966467	p.Leu883Val	missense variant	-	NC_000006.12:g.158502310C>G	TOPMed,gnomAD
rs1182648516	p.Gly884Asp	missense variant	-	NC_000006.12:g.158502314G>A	gnomAD
rs1171387187	p.Asp892Tyr	missense variant	-	NC_000006.12:g.158502337G>T	gnomAD
rs759860680	p.Asn896Lys	missense variant	-	NC_000006.12:g.158502351C>A	ExAC,TOPMed,gnomAD
rs770190031	p.Val897Met	missense variant	-	NC_000006.12:g.158502352G>A	ExAC,gnomAD
rs1016340756	p.Glu898Gln	missense variant	-	NC_000006.12:g.158502355G>C	TOPMed
rs1016340756	p.Glu898Lys	missense variant	-	NC_000006.12:g.158502355G>A	TOPMed
COSM1311756	p.Glu899Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158502358G>A	NCI-TCGA Cosmic
rs1283524557	p.Glu899Val	missense variant	-	NC_000006.12:g.158502359A>T	gnomAD
NCI-TCGA novel	p.Val900Leu	missense variant	-	NC_000006.12:g.158502361G>T	NCI-TCGA
rs767093482	p.Val900Ala	missense variant	-	NC_000006.12:g.158502362T>C	ExAC,gnomAD
rs749903358	p.Cys901Tyr	missense variant	-	NC_000006.12:g.158502365G>A	ExAC,gnomAD
rs1039643204	p.Arg902Trp	missense variant	-	NC_000006.12:g.158502367C>T	TOPMed,gnomAD
rs138201740	p.Arg902Gln	missense variant	-	NC_000006.12:g.158502368G>A	ESP,ExAC,TOPMed,gnomAD
rs899784581	p.Arg904Cys	missense variant	-	NC_000006.12:g.158502373C>T	TOPMed
rs754808860	p.Thr905Ile	missense variant	-	NC_000006.12:g.158502377C>T	ExAC,TOPMed,gnomAD
rs752438455	p.Arg906Trp	missense variant	-	NC_000006.12:g.158502379C>T	ExAC,TOPMed,gnomAD
rs377359848	p.Arg906Gln	missense variant	-	NC_000006.12:g.158502380G>A	ESP,ExAC,TOPMed,gnomAD
rs143772991	p.Met907Ile	missense variant	-	NC_000006.12:g.158502384G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143772991	p.Met907Ile	missense variant	-	NC_000006.12:g.158502384G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777879338	p.Met907Thr	missense variant	-	NC_000006.12:g.158502383T>C	ExAC,gnomAD
rs1170138047	p.Asn912Asp	missense variant	-	NC_000006.12:g.158502397A>G	gnomAD
rs199591747	p.Thr913Met	missense variant	-	NC_000006.12:g.158502401C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs771036231	p.Thr913Ala	missense variant	-	NC_000006.12:g.158502400A>G	ExAC
rs199591747	p.Thr913Lys	missense variant	-	NC_000006.12:g.158502401C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs530959213	p.Thr915Ile	missense variant	-	NC_000006.12:g.158502407C>T	1000Genomes,ExAC,gnomAD
rs1303434300	p.Thr915Ala	missense variant	-	NC_000006.12:g.158502406A>G	TOPMed,gnomAD
rs543124505	p.Leu916Phe	missense variant	-	NC_000006.12:g.158502409C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs771717933	p.Pro917Ala	missense variant	-	NC_000006.12:g.158502412C>G	ExAC,gnomAD
rs760241779	p.Gly918Ser	missense variant	-	NC_000006.12:g.158502415G>A	ExAC,TOPMed,gnomAD
rs141158549	p.Pro919Arg	missense variant	-	NC_000006.12:g.158502419C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141158549	p.Pro919Leu	missense variant	-	NC_000006.12:g.158502419C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1292534842	p.Gly920Val	missense variant	-	NC_000006.12:g.158502422G>T	TOPMed,gnomAD
rs1490902040	p.Ser921Arg	missense variant	-	NC_000006.12:g.158502424A>C	gnomAD
rs370453448	p.Ser922Pro	missense variant	-	NC_000006.12:g.158502427T>C	ESP,TOPMed,gnomAD
rs1267178872	p.Ala923Ser	missense variant	-	NC_000006.12:g.158502430G>T	gnomAD
rs776706519	p.Ala923Val	missense variant	-	NC_000006.12:g.158502431C>T	ExAC,gnomAD
rs150740591	p.Thr924Ser	missense variant	-	NC_000006.12:g.158502434C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM6173035	p.Leu925Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158502438G>T	NCI-TCGA Cosmic
rs765278266	p.Leu925Met	missense variant	-	NC_000006.12:g.158502436T>A	ExAC,gnomAD
rs1447696331	p.Leu927Phe	missense variant	-	NC_000006.12:g.158502442C>T	TOPMed
rs374416132	p.Thr928Met	missense variant	-	NC_000006.12:g.158502446C>T	ESP,ExAC,TOPMed,gnomAD
rs1449344422	p.Thr928Ala	missense variant	-	NC_000006.12:g.158502445A>G	gnomAD
rs751775458	p.Ala929Asp	missense variant	-	NC_000006.12:g.158502449C>A	ExAC,gnomAD
COSM1441868	p.Ala929Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158502449C>T	NCI-TCGA Cosmic
rs371114821	p.Thr930Ser	missense variant	-	NC_000006.12:g.158502451A>T	ESP,ExAC,TOPMed
NCI-TCGA novel	p.Glu931Lys	missense variant	-	NC_000006.12:g.158502454G>A	NCI-TCGA
rs745949010	p.Lys932Asn	missense variant	-	NC_000006.12:g.158502459G>T	ExAC,TOPMed,gnomAD
rs915289951	p.Lys932Thr	missense variant	-	NC_000006.12:g.158502458A>C	TOPMed
rs1383681744	p.Lys933Met	missense variant	-	NC_000006.12:g.158502461A>T	gnomAD
COSM4910939	p.Val934Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158502463G>T	NCI-TCGA Cosmic
rs375080790	p.Pro935Arg	missense variant	-	NC_000006.12:g.158502467C>G	ESP,ExAC,gnomAD
rs780461485	p.Pro935Ser	missense variant	-	NC_000006.12:g.158502466C>T	ExAC,gnomAD
rs375080790	p.Pro935Leu	missense variant	-	NC_000006.12:g.158502467C>T	ESP,ExAC,gnomAD
rs780461485	p.Pro935Thr	missense variant	-	NC_000006.12:g.158502466C>A	ExAC,gnomAD
rs1177397490	p.Gln936Glu	missense variant	-	NC_000006.12:g.158502469C>G	TOPMed
rs1315832866	p.Pro937Thr	missense variant	-	NC_000006.12:g.158502472C>A	gnomAD
rs1361669658	p.Cys938Gly	missense variant	-	NC_000006.12:g.158502475T>G	gnomAD
rs368409909	p.Ser939Gly	missense variant	-	NC_000006.12:g.158502478A>G	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Ser940Gly	missense variant	-	NC_000006.12:g.158502481A>G	NCI-TCGA
rs139107383	p.Asn944Thr	missense variant	-	NC_000006.12:g.158502494A>C	ESP,ExAC,TOPMed,gnomAD
rs367875154	p.Arg945Cys	missense variant	-	NC_000006.12:g.158502496C>T	ESP,ExAC,TOPMed,gnomAD
rs770712594	p.Arg945His	missense variant	-	NC_000006.12:g.158502497G>A	ExAC,gnomAD
COSM4404123	p.Leu946Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158502500T>A	NCI-TCGA Cosmic
rs201183348	p.Val948Ile	missense variant	-	NC_000006.12:g.158502505G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs199583035	p.Pro949Ala	missense variant	-	NC_000006.12:g.158502508C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs199583035	p.Pro949Ser	missense variant	-	NC_000006.12:g.158502508C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs117337831	p.Arg950Cys	missense variant	-	NC_000006.12:g.158502511C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751772422	p.Arg950His	missense variant	-	NC_000006.12:g.158502512G>A	ExAC,TOPMed,gnomAD
rs751772422	p.Arg950Pro	missense variant	-	NC_000006.12:g.158502512G>C	ExAC,TOPMed,gnomAD
rs146618069	p.Tyr951Asp	missense variant	-	NC_000006.12:g.158502514T>G	ESP,ExAC,TOPMed,gnomAD
rs1394346413	p.Ile953Val	missense variant	-	NC_000006.12:g.158502520A>G	TOPMed,gnomAD
rs780591087	p.Thr955Ala	missense variant	-	NC_000006.12:g.158502526A>G	ExAC,TOPMed,gnomAD
rs755368176	p.Gly956Arg	missense variant	-	NC_000006.12:g.158502529G>A	ExAC,TOPMed,gnomAD
rs1328901401	p.Asp957Tyr	missense variant	-	NC_000006.12:g.158502532G>T	TOPMed,gnomAD
rs1328901401	p.Asp957His	missense variant	-	NC_000006.12:g.158502532G>C	TOPMed,gnomAD
rs1204905089	p.Pro958Leu	missense variant	-	NC_000006.12:g.158502536C>T	gnomAD
rs886954118	p.Pro959Thr	missense variant	-	NC_000006.12:g.158502538C>A	TOPMed,gnomAD
rs779080360	p.Pro959Leu	missense variant	-	NC_000006.12:g.158502539C>T	ExAC,TOPMed,gnomAD
rs779080360	p.Pro959Arg	missense variant	-	NC_000006.12:g.158502539C>G	ExAC,TOPMed,gnomAD
rs554669159	p.Pro960Ser	missense variant	-	NC_000006.12:g.158502541C>T	1000Genomes,gnomAD
rs115368748	p.Pro960Leu	missense variant	-	NC_000006.12:g.158502542C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1156485635	p.Tyr961Cys	missense variant	-	NC_000006.12:g.158502545A>G	gnomAD
rs1411050625	p.Glu963Gln	missense variant	-	NC_000006.12:g.158502550G>C	TOPMed,gnomAD
rs776454064	p.Ala965Val	missense variant	-	NC_000006.12:g.158502557C>T	ExAC,gnomAD
rs1357384165	p.Gln967His	missense variant	-	NC_000006.12:g.158502564G>T	gnomAD
rs1447150650	p.Leu968Val	missense variant	-	NC_000006.12:g.158502565C>G	gnomAD
rs375816875	p.Ala969Ser	missense variant	-	NC_000006.12:g.158502568G>T	ESP,ExAC,TOPMed,gnomAD
rs375816875	p.Ala969Thr	missense variant	-	NC_000006.12:g.158502568G>A	ESP,ExAC,TOPMed,gnomAD
rs775482315	p.Ala969Val	missense variant	-	NC_000006.12:g.158502569C>T	ExAC,TOPMed,gnomAD
rs146885905	p.Arg972Pro	missense variant	-	NC_000006.12:g.158502578G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762862451	p.Arg972Gly	missense variant	-	NC_000006.12:g.158502577C>G	ExAC,TOPMed
rs762862451	p.Arg972Trp	missense variant	-	NC_000006.12:g.158502577C>T	ExAC,TOPMed
rs146885905	p.Arg972Leu	missense variant	-	NC_000006.12:g.158502578G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146885905	p.Arg972Gln	missense variant	-	NC_000006.12:g.158502578G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767700682	p.Gly973Glu	missense variant	-	NC_000006.12:g.158502581G>A	ExAC,TOPMed,gnomAD
COSM4738417	p.Ala974LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.158502578G>-	NCI-TCGA Cosmic
rs370177605	p.Ala974Thr	missense variant	-	NC_000006.12:g.158502583G>A	ESP,ExAC,TOPMed,gnomAD
rs760798414	p.Ala975Val	missense variant	-	NC_000006.12:g.158502587C>T	ExAC,gnomAD
rs1298583420	p.Ala975Ser	missense variant	-	NC_000006.12:g.158502586G>T	TOPMed
rs753958989	p.Gln976Arg	missense variant	-	NC_000006.12:g.158502590A>G	ExAC,gnomAD
rs766437667	p.Gln976Lys	missense variant	-	NC_000006.12:g.158502589C>A	ExAC,gnomAD
rs34622886	p.Asp979Asn	missense variant	-	NC_000006.12:g.158502598G>A	ExAC,TOPMed,gnomAD
rs780968111	p.Asn980Ser	missense variant	-	NC_000006.12:g.158502602A>G	ExAC,gnomAD
rs1171044844	p.Asn980Asp	missense variant	-	NC_000006.12:g.158502601A>G	gnomAD
rs1306205073	p.Ser981Arg	missense variant	-	NC_000006.12:g.158502604A>C	gnomAD
rs769339757	p.Ser981Arg	missense variant	-	NC_000006.12:g.158502606C>A	ExAC,gnomAD
rs1405703999	p.Ile983Met	missense variant	-	NC_000006.12:g.158502612C>G	gnomAD
NCI-TCGA novel	p.His984Tyr	missense variant	-	NC_000006.12:g.158502613C>T	NCI-TCGA
rs748840409	p.Ala985Thr	missense variant	-	NC_000006.12:g.158502616G>A	ExAC,gnomAD
rs748840409	p.Ala985Ser	missense variant	-	NC_000006.12:g.158502616G>T	ExAC,gnomAD
rs148920633	p.Thr986Ala	missense variant	-	NC_000006.12:g.158502619A>G	ESP,ExAC,TOPMed,gnomAD
rs200667552	p.Arg988Trp	missense variant	-	NC_000006.12:g.158502625C>T	ExAC,TOPMed,gnomAD
rs143675661	p.Arg988Gln	missense variant	-	NC_000006.12:g.158502626G>A	ESP,ExAC,TOPMed,gnomAD
rs1265903933	p.Asn990Ser	missense variant	-	NC_000006.12:g.158502632A>G	TOPMed
rs1194922242	p.Asn990Lys	missense variant	-	NC_000006.12:g.158502633C>G	TOPMed
rs1223239876	p.Asn991Ser	missense variant	-	NC_000006.12:g.158502635A>G	gnomAD
rs753812170	p.Arg992His	missense variant	-	NC_000006.12:g.158502638G>A	ExAC,TOPMed,gnomAD
rs199987597	p.Arg992Cys	missense variant	-	NC_000006.12:g.158502637C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs759692002	p.Ala994Ser	missense variant	-	NC_000006.12:g.158502643G>T	ExAC,gnomAD
rs545297782	p.Thr995Met	missense variant	-	NC_000006.12:g.158502647C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs753304401	p.Thr995Ala	missense variant	-	NC_000006.12:g.158502646A>G	ExAC,TOPMed,gnomAD
rs753304401	p.Thr995Ser	missense variant	-	NC_000006.12:g.158502646A>T	ExAC,TOPMed,gnomAD
rs772283211	p.Leu996Phe	missense variant	-	NC_000006.12:g.158502649C>T	ExAC,gnomAD
rs201772574	p.Leu996Pro	missense variant	-	NC_000006.12:g.158502650T>C	ExAC,TOPMed,gnomAD
rs377149954	p.Ala999Val	missense variant	-	NC_000006.12:g.158502659C>T	ESP,ExAC,TOPMed,gnomAD
COSM3860061	p.Gln1000Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.158502661C>T	NCI-TCGA Cosmic
rs778811971	p.Ala1002Val	missense variant	-	NC_000006.12:g.158502668C>T	ExAC,gnomAD
rs1229743903	p.Asp1003Asn	missense variant	-	NC_000006.12:g.158502670G>A	gnomAD
rs561517481	p.Pro1005Leu	missense variant	-	NC_000006.12:g.158502677C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201288009	p.Arg1006Trp	missense variant	-	NC_000006.12:g.158502679C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs771020319	p.Arg1006Gln	missense variant	-	NC_000006.12:g.158502680G>A	ExAC,TOPMed,gnomAD
rs373780975	p.Ala1007Thr	missense variant	-	NC_000006.12:g.158502682G>A	ESP,ExAC,TOPMed
rs759510513	p.Ala1007Val	missense variant	-	NC_000006.12:g.158502683C>T	ExAC,TOPMed,gnomAD
rs373780975	p.Ala1007Pro	missense variant	-	NC_000006.12:g.158502682G>C	ESP,ExAC,TOPMed
rs1192652481	p.Pro1008His	missense variant	-	NC_000006.12:g.158502686C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Leu1009CysPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.158502683C>-	NCI-TCGA
rs1165272666	p.Leu1009Met	missense variant	-	NC_000006.12:g.158502688C>A	gnomAD
rs763483536	p.Pro1011Ser	missense variant	-	NC_000006.12:g.158502694C>T	ExAC,gnomAD
rs751818622	p.Leu1012Pro	missense variant	-	NC_000006.12:g.158502698T>C	ExAC,gnomAD
rs764709846	p.Leu1012Val	missense variant	-	NC_000006.12:g.158502697C>G	ExAC,TOPMed,gnomAD
rs765123369	p.Ala1013Thr	missense variant	-	NC_000006.12:g.158502700G>A	ExAC,TOPMed,gnomAD
rs200373015	p.Ala1013Val	missense variant	-	NC_000006.12:g.158502701C>T	1000Genomes,TOPMed,gnomAD
rs532511357	p.Ser1015Ala	missense variant	-	NC_000006.12:g.158502706T>G	1000Genomes,TOPMed
rs765928279	p.Ser1015Phe	missense variant	-	NC_000006.12:g.158502707C>T	ExAC,TOPMed,gnomAD
rs753588753	p.Lys1016Arg	missense variant	-	NC_000006.12:g.158502710A>G	ExAC,TOPMed,gnomAD
rs1355213958	p.Gly1017Ser	missense variant	-	NC_000006.12:g.158502712G>A	TOPMed,gnomAD
rs1223935129	p.Gly1017Asp	missense variant	-	NC_000006.12:g.158502713G>A	gnomAD
rs35153865	p.Gly1018Arg	missense variant	-	NC_000006.12:g.158502715G>A	ExAC,TOPMed,gnomAD
rs750371896	p.Gly1020Arg	missense variant	-	NC_000006.12:g.158502721G>C	ExAC,TOPMed,gnomAD
rs750371896	p.Gly1020Arg	missense variant	-	NC_000006.12:g.158502721G>A	ExAC,TOPMed,gnomAD
rs750371896	p.Gly1020Trp	missense variant	-	NC_000006.12:g.158502721G>T	ExAC,TOPMed,gnomAD
rs776704237	p.Gly1021Trp	missense variant	-	NC_000006.12:g.158502724G>T	ExAC,gnomAD
rs1189750847	p.Gly1021Val	missense variant	-	NC_000006.12:g.158502725G>T	gnomAD
rs550864790	p.Val1022Leu	missense variant	-	NC_000006.12:g.158502727G>T	1000Genomes,TOPMed,gnomAD
rs550864790	p.Val1022Leu	missense variant	-	NC_000006.12:g.158502727G>C	1000Genomes,TOPMed,gnomAD
rs550864790	p.Val1022Met	missense variant	-	NC_000006.12:g.158502727G>A	1000Genomes,TOPMed,gnomAD
COSM4612468	p.Val1022TrpPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.158502721G>-	NCI-TCGA Cosmic
rs752011727	p.Val1022GlyPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.158502720_158502721insG	NCI-TCGA,NCI-TCGA Cosmic
rs770140661	p.Val1023Leu	missense variant	-	NC_000006.12:g.158502730G>T	ExAC,TOPMed,gnomAD
rs770140661	p.Val1023Met	missense variant	-	NC_000006.12:g.158502730G>A	ExAC,TOPMed,gnomAD
rs1455948689	p.Thr1024Ile	missense variant	-	NC_000006.12:g.158502734C>T	gnomAD
rs763144493	p.Leu1026Ile	missense variant	-	NC_000006.12:g.158502739C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1027Leu	missense variant	-	NC_000006.12:g.158502743C>T	NCI-TCGA
rs199631281	p.Ala1028Val	missense variant	-	NC_000006.12:g.158502746C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs548116504	p.Arg1029Gln	missense variant	-	NC_000006.12:g.158502749G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs762073219	p.Arg1029Trp	missense variant	-	NC_000006.12:g.158502748C>T	ExAC,TOPMed,gnomAD
rs1333388838	p.Pro1030Ser	missense variant	-	NC_000006.12:g.158502751C>T	TOPMed,gnomAD
rs750760884	p.Pro1031Ser	missense variant	-	NC_000006.12:g.158502754C>T	ExAC,gnomAD
rs750760884	p.Pro1031Ala	missense variant	-	NC_000006.12:g.158502754C>G	ExAC,gnomAD
rs754568549	p.Pro1031Leu	missense variant	-	NC_000006.12:g.158502755C>T	ExAC,gnomAD
rs151057609	p.Tyr1035Phe	missense variant	-	NC_000006.12:g.158502767A>T	ESP,ExAC,TOPMed,gnomAD
rs971143698	p.Thr1036Ile	missense variant	-	NC_000006.12:g.158502770C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gln1039Glu	missense variant	-	NC_000006.12:g.158502778C>G	NCI-TCGA
rs777548302	p.Ser1041Gly	missense variant	-	NC_000006.12:g.158502784A>G	ExAC
rs141015776	p.Gly1042Asp	missense variant	-	NC_000006.12:g.158502788G>A	ESP,ExAC,TOPMed,gnomAD
rs1378514369	p.Thr1043Ser	missense variant	-	NC_000006.12:g.158502790A>T	gnomAD
rs1479321564	p.Thr1043Arg	missense variant	-	NC_000006.12:g.158502791C>G	TOPMed,gnomAD
rs1400916613	p.Pro1045Ser	missense variant	-	NC_000006.12:g.158502796C>T	gnomAD
rs1429797694	p.Pro1045Arg	missense variant	-	NC_000006.12:g.158502797C>G	TOPMed,gnomAD
rs1429797694	p.Pro1045Leu	missense variant	-	NC_000006.12:g.158502797C>T	TOPMed,gnomAD
rs745666797	p.Ser1046Asn	missense variant	-	NC_000006.12:g.158502800G>A	ExAC,TOPMed,gnomAD
rs745666797	p.Ser1046Thr	missense variant	-	NC_000006.12:g.158502800G>C	ExAC,TOPMed,gnomAD
rs770089499	p.Gln1048Arg	missense variant	-	NC_000006.12:g.158502806A>G	ExAC,gnomAD
rs553855293	p.Gly1050Arg	missense variant	-	NC_000006.12:g.158502811G>A	ExAC,TOPMed,gnomAD
rs567396424	p.Ala1051Thr	missense variant	-	NC_000006.12:g.158502814G>A	ExAC,gnomAD
rs1441725756	p.Ser1052Pro	missense variant	-	NC_000006.12:g.158502817T>C	TOPMed
COSM3622380	p.Ser1052Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158502818C>T	NCI-TCGA Cosmic
rs146981242	p.Leu1053Val	missense variant	-	NC_000006.12:g.158502820C>G	ESP,ExAC,TOPMed,gnomAD
rs772470643	p.Ala1054Ser	missense variant	-	NC_000006.12:g.158502823G>T	ExAC,gnomAD
rs761060509	p.His1055Gln	missense variant	-	NC_000006.12:g.158502828T>A	ExAC,gnomAD
rs1482204639	p.Thr1056Ala	missense variant	-	NC_000006.12:g.158502829A>G	gnomAD
rs764840174	p.Thr1056Asn	missense variant	-	NC_000006.12:g.158502830C>A	ExAC,gnomAD
rs138066719	p.Ala1057Thr	missense variant	-	NC_000006.12:g.158502832G>A	ESP,ExAC,TOPMed,gnomAD
rs138066719	p.Ala1057Ser	missense variant	-	NC_000006.12:g.158502832G>T	ESP,ExAC,TOPMed,gnomAD
rs1197429844	p.Ala1057Val	missense variant	-	NC_000006.12:g.158502833C>T	gnomAD
rs143651023	p.Ala1059Thr	missense variant	-	NC_000006.12:g.158502838G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1061ArgPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.158502842C>-	NCI-TCGA
rs200682383	p.Pro1061Leu	missense variant	-	NC_000006.12:g.158502845C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1293748567	p.Ala1063Val	missense variant	-	NC_000006.12:g.158502851C>T	gnomAD
NCI-TCGA novel	p.Ser1064Phe	missense variant	-	NC_000006.12:g.158502854C>T	NCI-TCGA
rs903176695	p.Gln1065Arg	missense variant	-	NC_000006.12:g.158502857A>G	TOPMed,gnomAD
rs138666234	p.Pro1073Ser	missense variant	-	NC_000006.12:g.158502880C>T	ESP,ExAC,TOPMed,gnomAD
rs1227989053	p.Pro1073Leu	missense variant	-	NC_000006.12:g.158502881C>T	gnomAD
rs138666234	p.Pro1073Ala	missense variant	-	NC_000006.12:g.158502880C>G	ESP,ExAC,TOPMed,gnomAD
rs1472431189	p.Pro1074His	missense variant	-	NC_000006.12:g.158502884C>A	TOPMed
rs773751024	p.Pro1074Ser	missense variant	-	NC_000006.12:g.158502883C>T	ExAC,gnomAD
rs771340978	p.Asp1075Tyr	missense variant	-	NC_000006.12:g.158502886G>T	ExAC,TOPMed,gnomAD
rs771340978	p.Asp1075Asn	missense variant	-	NC_000006.12:g.158502886G>A	ExAC,TOPMed,gnomAD
rs144465701	p.Ala1077Val	missense variant	-	NC_000006.12:g.158502893C>T	ESP,TOPMed,gnomAD
rs556070406	p.Ala1077Thr	missense variant	-	NC_000006.12:g.158502892G>A	ExAC,TOPMed,gnomAD
rs367584122	p.Arg1078His	missense variant	-	NC_000006.12:g.158502896G>A	ESP,ExAC,TOPMed,gnomAD
rs148004422	p.Arg1078Cys	missense variant	-	NC_000006.12:g.158502895C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755971368	p.Asp1079Asn	missense variant	-	NC_000006.12:g.158502898G>A	ExAC,TOPMed,gnomAD
rs142412261	p.Arg1080Cys	missense variant	-	NC_000006.12:g.158502901C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs974021455	p.Arg1080His	missense variant	-	NC_000006.12:g.158502902G>A	TOPMed,gnomAD
rs142412261	p.Arg1080Ser	missense variant	-	NC_000006.12:g.158502901C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142412261	p.Arg1080Gly	missense variant	-	NC_000006.12:g.158502901C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1318420906	p.Thr1081Ala	missense variant	-	NC_000006.12:g.158502904A>G	gnomAD
rs755180125	p.Thr1081Ile	missense variant	-	NC_000006.12:g.158502905C>T	ExAC,gnomAD
rs374529625	p.Asp1082Asn	missense variant	-	NC_000006.12:g.158502907G>A	ESP,ExAC,TOPMed,gnomAD
rs554914544	p.Asp1082Gly	missense variant	-	NC_000006.12:g.158502908A>G	1000Genomes,ExAC,gnomAD
rs1242811469	p.Tyr1083His	missense variant	-	NC_000006.12:g.158502910T>C	gnomAD
rs778237859	p.Tyr1083Cys	missense variant	-	NC_000006.12:g.158502911A>G	ExAC,TOPMed,gnomAD
rs34559793	p.Val1084Ile	missense variant	-	NC_000006.12:g.158502913G>A	UniProt,dbSNP
VAR_052420	p.Val1084Ile	missense variant	-	NC_000006.12:g.158502913G>A	UniProt
rs34559793	p.Val1084Ile	missense variant	-	NC_000006.12:g.158502913G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776922745	p.Asn1085Thr	missense variant	-	NC_000006.12:g.158502917A>C	ExAC,gnomAD
rs368742583	p.Ser1086Leu	missense variant	-	NC_000006.12:g.158502920C>T	ESP,ExAC,TOPMed,gnomAD
rs773913477	p.Phe1088Leu	missense variant	-	NC_000006.12:g.158502925T>C	ExAC,TOPMed
rs140116628	p.Thr1089Met	missense variant	-	NC_000006.12:g.158502929C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772855472	p.Glu1090Asp	missense variant	-	NC_000006.12:g.158502933G>T	ExAC,TOPMed,gnomAD
rs760636119	p.Asp1091Tyr	missense variant	-	NC_000006.12:g.158502934G>T	ExAC,TOPMed,gnomAD
rs753646341	p.Glu1092Lys	missense variant	-	NC_000006.12:g.158502937G>A	ExAC,TOPMed,gnomAD
rs754769786	p.Ala1093Thr	missense variant	-	NC_000006.12:g.158502940G>A	ExAC,gnomAD
rs1221029501	p.Leu1094Val	missense variant	-	NC_000006.12:g.158502943C>G	TOPMed
rs765476176	p.Gln1096Glu	missense variant	-	NC_000006.12:g.158502949C>G	ExAC,gnomAD
rs1213120667	p.His1097Tyr	missense variant	-	NC_000006.12:g.158502952C>T	TOPMed
rs372343702	p.Cys1098Arg	missense variant	-	NC_000006.12:g.158502955T>C	ESP,ExAC,TOPMed,gnomAD
rs867792725	p.Gln1099Arg	missense variant	-	NC_000006.12:g.158502959A>G	-
rs1351541548	p.Leu1100Pro	missense variant	-	NC_000006.12:g.158502962T>C	gnomAD
rs758497948	p.Glu1101Lys	missense variant	-	NC_000006.12:g.158502964G>A	ExAC
COSM5649542	p.Glu1101Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158502964G>C	NCI-TCGA Cosmic
rs777762353	p.Glu1101Gly	missense variant	-	NC_000006.12:g.158502965A>G	ExAC,TOPMed,gnomAD
rs747104798	p.His1106Arg	missense variant	-	NC_000006.12:g.158502980A>G	ExAC,gnomAD
rs1211422960	p.His1106Gln	missense variant	-	NC_000006.12:g.158502981C>A	gnomAD
rs1392345001	p.His1106Tyr	missense variant	-	NC_000006.12:g.158502979C>T	TOPMed
rs781683492	p.Pro1107Leu	missense variant	-	NC_000006.12:g.158502983C>T	ExAC,gnomAD
rs757712694	p.Pro1107Ser	missense variant	-	NC_000006.12:g.158502982C>T	ExAC,gnomAD
rs746209791	p.Pro1108His	missense variant	-	NC_000006.12:g.158502986C>A	ExAC,TOPMed,gnomAD
COSM4488411	p.Pro1108Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158502985C>T	NCI-TCGA Cosmic
rs1170801984	p.Pro1108Ala	missense variant	-	NC_000006.12:g.158502985C>G	gnomAD
rs746209791	p.Pro1108Leu	missense variant	-	NC_000006.12:g.158502986C>T	ExAC,TOPMed,gnomAD
rs747692181	p.Pro1110Arg	missense variant	-	NC_000006.12:g.158502992C>G	ExAC,TOPMed,gnomAD
COSM1075433	p.Pro1110Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158502991C>T	NCI-TCGA Cosmic
rs139425977	p.Ala1112Thr	missense variant	-	NC_000006.12:g.158502997G>A	ESP,ExAC,TOPMed,gnomAD
rs772804283	p.Ala1112Val	missense variant	-	NC_000006.12:g.158502998C>T	ExAC,gnomAD
rs760293108	p.Thr1115Ser	missense variant	-	NC_000006.12:g.158503007C>G	ExAC,TOPMed,gnomAD
rs760293108	p.Thr1115Ile	missense variant	-	NC_000006.12:g.158503007C>T	ExAC,TOPMed,gnomAD
rs1476810105	p.Leu1116Val	missense variant	-	NC_000006.12:g.158503009C>G	TOPMed
rs1464590459	p.Lys1117Glu	missense variant	-	NC_000006.12:g.158503012A>G	gnomAD
rs1239500486	p.Lys1117Thr	missense variant	-	NC_000006.12:g.158503013A>C	TOPMed
rs776482908	p.Arg1118Trp	missense variant	-	NC_000006.12:g.158503015C>T	ExAC,TOPMed,gnomAD
rs367675484	p.Arg1118Leu	missense variant	-	NC_000006.12:g.158503016G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs367675484	p.Arg1118Gln	missense variant	-	NC_000006.12:g.158503016G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs765007222	p.Pro1119Ser	missense variant	-	NC_000006.12:g.158503018C>T	ExAC,gnomAD
rs752540841	p.Pro1120Arg	missense variant	-	NC_000006.12:g.158503022C>G	ExAC,TOPMed,gnomAD
rs752540841	p.Pro1120Leu	missense variant	-	NC_000006.12:g.158503022C>T	ExAC,TOPMed,gnomAD
rs1202951065	p.Pro1120Ala	missense variant	-	NC_000006.12:g.158503021C>G	TOPMed
rs758491143	p.Pro1121Ala	missense variant	-	NC_000006.12:g.158503024C>G	ExAC,TOPMed,gnomAD
rs758491143	p.Pro1121Ser	missense variant	-	NC_000006.12:g.158503024C>T	ExAC,TOPMed,gnomAD
rs751594751	p.Pro1121Leu	missense variant	-	NC_000006.12:g.158503025C>T	ExAC,TOPMed,gnomAD
rs751594751	p.Pro1121Arg	missense variant	-	NC_000006.12:g.158503025C>G	ExAC,TOPMed,gnomAD
rs562882638	p.Gln1123Arg	missense variant	-	NC_000006.12:g.158503031A>G	1000Genomes,ExAC,gnomAD
rs750947266	p.Asp1125Glu	missense variant	-	NC_000006.12:g.158503038C>A	ExAC,gnomAD
rs781646496	p.Asp1125Asn	missense variant	-	NC_000006.12:g.158503036G>A	ExAC,gnomAD
rs1483841175	p.Met1127Val	missense variant	-	NC_000006.12:g.158503042A>G	gnomAD
rs192777685	p.Gly1129Val	missense variant	-	NC_000006.12:g.158503049G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs192777685	p.Gly1129Asp	missense variant	-	NC_000006.12:g.158503049G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs914690	p.Asp1131Glu	missense variant	-	NC_000006.12:g.158503056T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val1132Phe	missense variant	-	NC_000006.12:g.158503057G>T	NCI-TCGA
rs749689118	p.Val1132Ile	missense variant	-	NC_000006.12:g.158503057G>A	ExAC,TOPMed,gnomAD
rs1192901482	p.Val1134Ile	missense variant	-	NC_000006.12:g.158503063G>A	gnomAD
rs771814412	p.Pro1135Ser	missense variant	-	NC_000006.12:g.158503066C>T	ExAC,gnomAD
rs777608746	p.Gln1136Arg	missense variant	-	NC_000006.12:g.158503070A>G	ExAC,gnomAD
rs1390849326	p.Glu1137Val	missense variant	-	NC_000006.12:g.158503073A>T	gnomAD
rs1306373501	p.Arg1138Lys	missense variant	-	NC_000006.12:g.158503076G>A	gnomAD
rs770624797	p.Arg1138Gly	missense variant	-	NC_000006.12:g.158503075A>G	ExAC,TOPMed,gnomAD
rs759322600	p.Thr1139Ile	missense variant	-	NC_000006.12:g.158503079C>T	ExAC,TOPMed,gnomAD
rs769782296	p.Ala1140Pro	missense variant	-	NC_000006.12:g.158503081G>C	ExAC,gnomAD
rs762766910	p.Gln1141Arg	missense variant	-	NC_000006.12:g.158503085A>G	ExAC,gnomAD
rs1297770589	p.Thr1142Ile	missense variant	-	NC_000006.12:g.158503088C>T	gnomAD
rs751825544	p.Gly1144Glu	missense variant	-	NC_000006.12:g.158503094G>A	ExAC,TOPMed,gnomAD
rs1444130243	p.Asn1146Thr	missense variant	-	NC_000006.12:g.158503100A>C	gnomAD
rs767432516	p.Pro1147Arg	missense variant	-	NC_000006.12:g.158503103C>G	ExAC,TOPMed,gnomAD
rs756533395	p.Ser1151Thr	missense variant	-	NC_000006.12:g.158503114T>A	ExAC,gnomAD
rs780646098	p.Ser1151Phe	missense variant	-	NC_000006.12:g.158503115C>T	ExAC,gnomAD
rs113322787	p.His1160Asp	missense variant	-	NC_000006.12:g.158503141C>G	ExAC,gnomAD
rs113322787	p.His1160Tyr	missense variant	-	NC_000006.12:g.158503141C>T	ExAC,gnomAD
rs1348488726	p.Leu1161Val	missense variant	-	NC_000006.12:g.158503144C>G	gnomAD
rs745404947	p.Val1163Met	missense variant	-	NC_000006.12:g.158503150G>A	ExAC,TOPMed,gnomAD
COSM741365	p.Arg1165Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.158503156C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg1165Pro	missense variant	-	NC_000006.12:g.158503157G>C	NCI-TCGA
rs144691972	p.Arg1165Gln	missense variant	-	NC_000006.12:g.158503157G>A	ESP,ExAC,TOPMed,gnomAD
rs1397748746	p.Leu1166Val	missense variant	-	NC_000006.12:g.158503159C>G	TOPMed
COSM3430299	p.Pro1167His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503163C>A	NCI-TCGA Cosmic
rs1269039473	p.Pro1167Leu	missense variant	-	NC_000006.12:g.158503163C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Phe1168Leu	missense variant	-	NC_000006.12:g.158503167C>A	NCI-TCGA
rs1379452511	p.Ile1169Val	missense variant	-	NC_000006.12:g.158503168A>G	TOPMed,gnomAD
rs762711294	p.Pro1171Ser	missense variant	-	NC_000006.12:g.158503174C>T	ExAC,TOPMed,gnomAD
rs182840540	p.Pro1171Leu	missense variant	-	NC_000006.12:g.158503175C>T	1000Genomes,gnomAD
rs774549429	p.Lys1172Arg	missense variant	-	NC_000006.12:g.158503178A>G	ExAC,gnomAD
rs1191120198	p.Ala1175Thr	missense variant	-	NC_000006.12:g.158503186G>A	gnomAD
rs773130093	p.Ser1176Arg	missense variant	-	NC_000006.12:g.158503191C>G	ExAC,TOPMed
rs767806168	p.Ser1176Gly	missense variant	-	NC_000006.12:g.158503189A>G	ExAC,gnomAD
rs202138353	p.Thr1178Ala	missense variant	-	NC_000006.12:g.158503195A>G	ExAC,gnomAD
rs376413347	p.Ala1179Val	missense variant	-	NC_000006.12:g.158503199C>T	ESP,ExAC,TOPMed,gnomAD
rs754455276	p.Ala1179Thr	missense variant	-	NC_000006.12:g.158503198G>A	ExAC,TOPMed,gnomAD
rs34017613	p.Gln1182His	missense variant	-	NC_000006.12:g.158503209A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756809181	p.Gly1184Ala	missense variant	-	NC_000006.12:g.158503214G>C	ExAC,TOPMed,gnomAD
rs780928217	p.Tyr1185Cys	missense variant	-	NC_000006.12:g.158503217A>G	ExAC,gnomAD
rs373734605	p.Gly1186Arg	missense variant	-	NC_000006.12:g.158503219G>A	ESP,ExAC,TOPMed,gnomAD
rs779838394	p.Met1187Val	missense variant	-	NC_000006.12:g.158503222A>G	ExAC,TOPMed,gnomAD
rs1354373095	p.Met1187Ile	missense variant	-	NC_000006.12:g.158503224G>A	TOPMed,gnomAD
rs570241943	p.Gly1188Glu	missense variant	-	NC_000006.12:g.158503226G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Val1189Met	missense variant	-	NC_000006.12:g.158503228G>A	NCI-TCGA
rs912959894	p.Pro1190Leu	missense variant	-	NC_000006.12:g.158503232C>T	TOPMed
rs1004394694	p.Pro1192Thr	missense variant	-	NC_000006.12:g.158503237C>A	gnomAD
rs1004394694	p.Pro1192Ser	missense variant	-	NC_000006.12:g.158503237C>T	gnomAD
rs774086017	p.Ser1194Asn	missense variant	-	NC_000006.12:g.158503244G>A	ExAC,gnomAD
rs1037568557	p.Tyr1195Ser	missense variant	-	NC_000006.12:g.158503247A>C	TOPMed,gnomAD
rs1037568557	p.Tyr1195Cys	missense variant	-	NC_000006.12:g.158503247A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Asn1196Ser	missense variant	-	NC_000006.12:g.158503250A>G	NCI-TCGA
rs1474982724	p.Pro1198Thr	missense variant	-	NC_000006.12:g.158503255C>A	TOPMed,gnomAD
rs1474982724	p.Pro1198Ser	missense variant	-	NC_000006.12:g.158503255C>T	TOPMed,gnomAD
rs1183363297	p.Pro1199Ser	missense variant	-	NC_000006.12:g.158503258C>T	gnomAD
rs772156976	p.Pro1199Arg	missense variant	-	NC_000006.12:g.158503259C>G	ExAC,TOPMed,gnomAD
rs772156976	p.Pro1199Leu	missense variant	-	NC_000006.12:g.158503259C>T	ExAC,TOPMed,gnomAD
rs376933499	p.Leu1200Phe	missense variant	-	NC_000006.12:g.158503263G>T	ESP,ExAC,TOPMed,gnomAD
rs752213120	p.Val1203Leu	missense variant	-	NC_000006.12:g.158503270G>C	TOPMed,gnomAD
rs1331574042	p.Val1203Ala	missense variant	-	NC_000006.12:g.158503271T>C	gnomAD
rs1374479803	p.Ala1205Ser	missense variant	-	NC_000006.12:g.158503276G>T	gnomAD
COSM741364	p.Pro1206Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503280C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro1206Ala	missense variant	-	NC_000006.12:g.158503279C>G	NCI-TCGA
rs1342122308	p.Ser1208Pro	missense variant	-	NC_000006.12:g.158503285T>C	TOPMed
rs1232256323	p.Pro1209His	missense variant	-	NC_000006.12:g.158503289C>A	gnomAD
rs1298532515	p.Pro1209Ser	missense variant	-	NC_000006.12:g.158503288C>T	TOPMed
rs755725430	p.Ala1212Thr	missense variant	-	NC_000006.12:g.158503297G>A	ExAC,TOPMed,gnomAD
rs1348389205	p.Ser1214Phe	missense variant	-	NC_000006.12:g.158503304C>T	gnomAD
rs1346977856	p.Pro1215Leu	missense variant	-	NC_000006.12:g.158503307C>T	gnomAD
rs34395018	p.Pro1215Ser	missense variant	-	NC_000006.12:g.158503306C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1032110947	p.Thr1216Ala	missense variant	-	NC_000006.12:g.158503309A>G	TOPMed,gnomAD
rs1032110947	p.Thr1216Pro	missense variant	-	NC_000006.12:g.158503309A>C	TOPMed,gnomAD
rs375157188	p.Thr1216Met	missense variant	-	NC_000006.12:g.158503310C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750144450	p.Gln1217Arg	missense variant	-	NC_000006.12:g.158503313A>G	ExAC,gnomAD
rs891306226	p.Ala1219Val	missense variant	-	NC_000006.12:g.158503319C>T	TOPMed
rs779470176	p.Gln1221Arg	missense variant	-	NC_000006.12:g.158503325A>G	ExAC,TOPMed,gnomAD
rs1436408537	p.Gln1221Ter	stop gained	-	NC_000006.12:g.158503324C>T	gnomAD
rs1378747222	p.Glu1222Val	missense variant	-	NC_000006.12:g.158503328A>T	gnomAD
rs1446648962	p.Glu1222Gln	missense variant	-	NC_000006.12:g.158503327G>C	TOPMed
rs748820585	p.Pro1223Ala	missense variant	-	NC_000006.12:g.158503330C>G	ExAC,gnomAD
rs754871274	p.Pro1223Leu	missense variant	-	NC_000006.12:g.158503331C>T	ExAC,gnomAD
rs778863128	p.Val1226Ala	missense variant	-	NC_000006.12:g.158503340T>C	ExAC,TOPMed,gnomAD
rs1390628532	p.Pro1229Leu	missense variant	-	NC_000006.12:g.158503349C>T	TOPMed,gnomAD
COSM271588	p.Pro1229Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503348C>T	NCI-TCGA Cosmic
rs897267870	p.Pro1229Thr	missense variant	-	NC_000006.12:g.158503348C>A	TOPMed,gnomAD
rs759716238	p.Tyr1231Ser	missense variant	-	NC_000006.12:g.158503355A>C	ExAC,gnomAD
rs570526243	p.Pro1232Ser	missense variant	-	NC_000006.12:g.158503357C>T	ExAC,gnomAD
rs1277058636	p.Ser1234Gly	missense variant	-	NC_000006.12:g.158503363A>G	gnomAD
COSM1075434	p.Ser1234Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503364G>T	NCI-TCGA Cosmic
rs1278616575	p.Leu1235Arg	missense variant	-	NC_000006.12:g.158503367T>G	TOPMed
rs1195588706	p.Ser1236Phe	missense variant	-	NC_000006.12:g.158503370C>T	gnomAD
rs376255175	p.Tyr1237Cys	missense variant	-	NC_000006.12:g.158503373A>G	ESP
rs764585766	p.Cys1238Tyr	missense variant	-	NC_000006.12:g.158503376G>A	ExAC,gnomAD
rs140413743	p.Thr1239Ile	missense variant	-	NC_000006.12:g.158503379C>T	ESP,TOPMed
NCI-TCGA novel	p.Thr1239Ser	missense variant	-	NC_000006.12:g.158503378A>T	NCI-TCGA
rs1449522522	p.Pro1241Ser	missense variant	-	NC_000006.12:g.158503384C>T	TOPMed,gnomAD
rs760314999	p.Pro1241Leu	missense variant	-	NC_000006.12:g.158503385C>T	ExAC,TOPMed,gnomAD
rs778813916	p.Pro1242Leu	missense variant	-	NC_000006.12:g.158503388C>T	ExAC,gnomAD
rs534360336	p.Pro1242Thr	missense variant	-	NC_000006.12:g.158503387C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs534360336	p.Pro1242Ser	missense variant	-	NC_000006.12:g.158503387C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs777569329	p.Met1243Thr	missense variant	-	NC_000006.12:g.158503391T>C	ExAC,TOPMed,gnomAD
rs746799550	p.Met1243Ile	missense variant	-	NC_000006.12:g.158503392G>A	ExAC,gnomAD
rs758276048	p.Met1243Val	missense variant	-	NC_000006.12:g.158503390A>G	ExAC,TOPMed,gnomAD
rs771235865	p.Thr1249Ala	missense variant	-	NC_000006.12:g.158503408A>G	ExAC,gnomAD
rs781601716	p.Thr1249Met	missense variant	-	NC_000006.12:g.158503409C>T	ExAC,TOPMed,gnomAD
rs776135562	p.Cys1250Tyr	missense variant	-	NC_000006.12:g.158503412G>A	ExAC,gnomAD
rs770056683	p.Cys1250Arg	missense variant	-	NC_000006.12:g.158503411T>C	ExAC,TOPMed,gnomAD
rs770056683	p.Cys1250Gly	missense variant	-	NC_000006.12:g.158503411T>G	ExAC,TOPMed,gnomAD
rs769055843	p.Pro1256Ser	missense variant	-	NC_000006.12:g.158503429C>T	ExAC,gnomAD
rs1189946309	p.Pro1256Leu	missense variant	-	NC_000006.12:g.158503430C>T	gnomAD
rs774739941	p.Pro1257Thr	missense variant	-	NC_000006.12:g.158503432C>A	ExAC,TOPMed,gnomAD
rs150378179	p.Ala1259Thr	missense variant	-	NC_000006.12:g.158503438G>A	ESP,ExAC,TOPMed,gnomAD
rs898651679	p.Ala1259Val	missense variant	-	NC_000006.12:g.158503439C>T	gnomAD
rs1324046345	p.Ser1264Arg	missense variant	-	NC_000006.12:g.158503455T>G	gnomAD
rs759047000	p.Ser1265Pro	missense variant	-	NC_000006.12:g.158503456T>C	ExAC,gnomAD
rs764664477	p.Ser1265Phe	missense variant	-	NC_000006.12:g.158503457C>T	ExAC,TOPMed,gnomAD
rs764664477	p.Ser1265Cys	missense variant	-	NC_000006.12:g.158503457C>G	ExAC,TOPMed,gnomAD
rs1390276204	p.Tyr1266His	missense variant	-	NC_000006.12:g.158503459T>C	TOPMed,gnomAD
rs369995721	p.Ser1267Cys	missense variant	-	NC_000006.12:g.158503462A>T	ESP,ExAC,TOPMed,gnomAD
rs369995721	p.Ser1267Gly	missense variant	-	NC_000006.12:g.158503462A>G	ESP,ExAC,TOPMed,gnomAD
rs373525326	p.Ala1268Thr	missense variant	-	NC_000006.12:g.158503465G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373525326	p.Ala1268Pro	missense variant	-	NC_000006.12:g.158503465G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1332629880	p.Ala1268Val	missense variant	-	NC_000006.12:g.158503466C>T	gnomAD
rs746159598	p.Cys1269Tyr	missense variant	-	NC_000006.12:g.158503469G>A	ExAC,gnomAD
rs746159598	p.Cys1269Phe	missense variant	-	NC_000006.12:g.158503469G>T	ExAC,gnomAD
rs1357558006	p.Cys1269Arg	missense variant	-	NC_000006.12:g.158503468T>C	gnomAD
rs145101521	p.Pro1270Leu	missense variant	-	NC_000006.12:g.158503472C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770144481	p.Pro1270Thr	missense variant	-	NC_000006.12:g.158503471C>A	ExAC,TOPMed,gnomAD
rs770144481	p.Pro1270Ser	missense variant	-	NC_000006.12:g.158503471C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1271Leu	missense variant	-	NC_000006.12:g.158503475C>T	NCI-TCGA
NCI-TCGA novel	p.Pro1271Ser	missense variant	-	NC_000006.12:g.158503474C>T	NCI-TCGA
rs1258509866	p.Pro1271His	missense variant	-	NC_000006.12:g.158503475C>A	gnomAD
rs769177968	p.Asn1274Ser	missense variant	-	NC_000006.12:g.158503484A>G	ExAC,TOPMed,gnomAD
rs769177968	p.Asn1274Ile	missense variant	-	NC_000006.12:g.158503484A>T	ExAC,TOPMed,gnomAD
COSM4491556	p.Pro1275Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503487C>T	NCI-TCGA Cosmic
rs774770935	p.Pro1275Ala	missense variant	-	NC_000006.12:g.158503486C>G	ExAC,TOPMed,gnomAD
rs774770935	p.Pro1275Ser	missense variant	-	NC_000006.12:g.158503486C>T	ExAC,TOPMed,gnomAD
rs748533592	p.Gly1277Ser	missense variant	-	NC_000006.12:g.158503492G>A	ExAC,TOPMed,gnomAD
rs1473981470	p.Gly1277Asp	missense variant	-	NC_000006.12:g.158503493G>A	gnomAD
rs921610162	p.Thr1278Ser	missense variant	-	NC_000006.12:g.158503496C>G	TOPMed,gnomAD
rs3749852	p.Pro1281Thr	missense variant	-	NC_000006.12:g.158503504C>A	UniProt,dbSNP
VAR_052421	p.Pro1281Thr	missense variant	-	NC_000006.12:g.158503504C>A	UniProt
rs3749852	p.Pro1281Thr	missense variant	-	NC_000006.12:g.158503504C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs3749852	p.Pro1281Ala	missense variant	-	NC_000006.12:g.158503504C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs3749852	p.Pro1281Ser	missense variant	-	NC_000006.12:g.158503504C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1281GlnPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.158503500C>-	NCI-TCGA
rs762406629	p.Pro1281Arg	missense variant	-	NC_000006.12:g.158503505C>G	ExAC,gnomAD
rs762406629	p.Pro1281Gln	missense variant	-	NC_000006.12:g.158503505C>A	ExAC,gnomAD
rs944282297	p.Lys1282Glu	missense variant	-	NC_000006.12:g.158503507A>G	TOPMed
rs1377507493	p.Pro1283Leu	missense variant	-	NC_000006.12:g.158503511C>T	gnomAD
rs897314045	p.Pro1283Thr	missense variant	-	NC_000006.12:g.158503510C>A	TOPMed
rs757112669	p.His1284Asp	missense variant	-	NC_000006.12:g.158503513C>G	ExAC,gnomAD
rs757112669	p.His1284Tyr	missense variant	-	NC_000006.12:g.158503513C>T	ExAC,gnomAD
rs767353746	p.Leu1285Val	missense variant	-	NC_000006.12:g.158503516T>G	ExAC,gnomAD
rs1351487220	p.Val1286Met	missense variant	-	NC_000006.12:g.158503519G>A	gnomAD
COSM1075435	p.Glu1288Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503527G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1288Gln	missense variant	-	NC_000006.12:g.158503525G>C	NCI-TCGA
COSM3622383	p.Lys1289Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503528A>G	NCI-TCGA Cosmic
rs750256130	p.Pro1290Ser	missense variant	-	NC_000006.12:g.158503531C>T	ExAC,TOPMed,gnomAD
rs1307828619	p.Leu1291Pro	missense variant	-	NC_000006.12:g.158503535T>C	TOPMed
NCI-TCGA novel	p.Leu1291ProPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.158503530_158503531insC	NCI-TCGA
rs1209701683	p.Pro1294Gln	missense variant	-	NC_000006.12:g.158503544C>A	gnomAD
rs370879755	p.Pro1294Ser	missense variant	-	NC_000006.12:g.158503543C>T	ESP,ExAC,gnomAD
rs999818616	p.Pro1295Arg	missense variant	-	NC_000006.12:g.158503547C>G	gnomAD
rs755072825	p.Ala1297Val	missense variant	-	NC_000006.12:g.158503553C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1298Gly	missense variant	-	NC_000006.12:g.158503556A>G	NCI-TCGA
rs138618542	p.Asp1298Asn	missense variant	-	NC_000006.12:g.158503555G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748591714	p.Leu1299Pro	missense variant	-	NC_000006.12:g.158503559T>C	ExAC,gnomAD
rs748591714	p.Leu1299His	missense variant	-	NC_000006.12:g.158503559T>A	ExAC,gnomAD
rs3749853	p.Gln1300His	missense variant	-	NC_000006.12:g.158503563A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1269854677	p.Ser1301Gly	missense variant	-	NC_000006.12:g.158503564A>G	gnomAD
rs747407705	p.Gly1304Ser	missense variant	-	NC_000006.12:g.158503573G>A	ExAC,gnomAD
rs769454233	p.Val1307Met	missense variant	-	NC_000006.12:g.158503582G>A	ExAC,TOPMed,gnomAD
rs769454233	p.Val1307Leu	missense variant	-	NC_000006.12:g.158503582G>C	ExAC,TOPMed,gnomAD
rs762507787	p.Val1309Ile	missense variant	-	NC_000006.12:g.158503588G>A	ExAC,gnomAD
rs1157999650	p.Glu1310Gln	missense variant	-	NC_000006.12:g.158503591G>C	TOPMed
rs773916311	p.Glu1310Gly	missense variant	-	NC_000006.12:g.158503592A>G	ExAC,gnomAD
rs1373260864	p.Ala1312Thr	missense variant	-	NC_000006.12:g.158503597G>A	gnomAD
rs138934316	p.Asn1314Ser	missense variant	-	NC_000006.12:g.158503604A>G	1000Genomes,ESP
rs761783648	p.Phe1315Leu	missense variant	-	NC_000006.12:g.158503606T>C	ExAC
rs1239116069	p.Phe1315Leu	missense variant	-	NC_000006.12:g.158503608C>G	TOPMed
COSM4546220	p.Val1318Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503615G>A	NCI-TCGA Cosmic
rs200252818	p.Glu1323Lys	missense variant	-	NC_000006.12:g.158503630G>A	ExAC,TOPMed,gnomAD
rs551988485	p.Val1326Ala	missense variant	-	NC_000006.12:g.158503640T>C	1000Genomes,ExAC,gnomAD
rs778804330	p.Pro1327His	missense variant	-	NC_000006.12:g.158503643C>A	ExAC,gnomAD
rs778804330	p.Pro1327Leu	missense variant	-	NC_000006.12:g.158503643C>T	ExAC,gnomAD
rs200432004	p.Arg1329Gly	missense variant	-	NC_000006.12:g.158503648C>G	TOPMed,gnomAD
rs200432004	p.Arg1329Trp	missense variant	-	NC_000006.12:g.158503648C>T	TOPMed,gnomAD
rs778290647	p.Arg1329Gln	missense variant	-	NC_000006.12:g.158503649G>A	ExAC,TOPMed,gnomAD
rs373985552	p.Glu1331Asp	missense variant	-	NC_000006.12:g.158503656A>C	ESP,ExAC,gnomAD
rs1391018590	p.Lys1332Ile	missense variant	-	NC_000006.12:g.158503658A>T	gnomAD
rs771255165	p.Gly1334Ala	missense variant	-	NC_000006.12:g.158503664G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1335Asn	missense variant	-	NC_000006.12:g.158503668G>C	NCI-TCGA
rs1168843077	p.Lys1336Arg	missense variant	-	NC_000006.12:g.158503670A>G	gnomAD
rs1286467709	p.Asn1337Ser	missense variant	-	NC_000006.12:g.158503673A>G	TOPMed
rs1162811022	p.Arg1338Trp	missense variant	-	NC_000006.12:g.158503675C>T	TOPMed,gnomAD
rs375853714	p.Arg1338Gln	missense variant	-	NC_000006.12:g.158503676G>A	ESP,ExAC,TOPMed,gnomAD
rs563930329	p.Arg1340His	missense variant	-	NC_000006.12:g.158503682G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs563930329	p.Arg1340Leu	missense variant	-	NC_000006.12:g.158503682G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs370511300	p.Arg1340Cys	missense variant	-	NC_000006.12:g.158503681C>T	ESP,ExAC,TOPMed,gnomAD
rs374181619	p.Arg1344Gln	missense variant	-	NC_000006.12:g.158503694G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761438567	p.Ala1345Val	missense variant	-	NC_000006.12:g.158503697C>T	ExAC,TOPMed,gnomAD
rs921662158	p.Glu1346Lys	missense variant	-	NC_000006.12:g.158503699G>A	TOPMed,gnomAD
rs189101138	p.Glu1347Gly	missense variant	-	NC_000006.12:g.158503703A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs773342888	p.Gly1348Arg	missense variant	-	NC_000006.12:g.158503705G>C	ExAC,gnomAD
rs1272112637	p.Ser1349Asn	missense variant	-	NC_000006.12:g.158503709G>A	gnomAD
rs140677029	p.Val1350Ile	missense variant	-	NC_000006.12:g.158503711G>A	ESP,ExAC,TOPMed,gnomAD
rs1271224193	p.Gln1351Arg	missense variant	-	NC_000006.12:g.158503715A>G	gnomAD
rs759633083	p.Ala1352Thr	missense variant	-	NC_000006.12:g.158503717G>A	ExAC,gnomAD
rs1476548955	p.Thr1354Ala	missense variant	-	NC_000006.12:g.158503723A>G	gnomAD
rs1488423240	p.Gly1356Val	missense variant	-	NC_000006.12:g.158503730G>T	TOPMed
rs1419311315	p.Lys1359Thr	missense variant	-	NC_000006.12:g.158503739A>C	gnomAD
rs1424781876	p.Lys1360Arg	missense variant	-	NC_000006.12:g.158503742A>G	TOPMed,gnomAD
rs943760430	p.Thr1364Ala	missense variant	-	NC_000006.12:g.158503753A>G	gnomAD
rs778237585	p.Leu1365Phe	missense variant	-	NC_000006.12:g.158503758G>C	ExAC,gnomAD
rs902162030	p.Leu1365Ser	missense variant	-	NC_000006.12:g.158503757T>C	TOPMed,gnomAD
rs752122680	p.Ser1366Arg	missense variant	-	NC_000006.12:g.158503761T>A	ExAC,gnomAD
rs546390777	p.Ser1366Asn	missense variant	-	NC_000006.12:g.158503760G>A	TOPMed,gnomAD
rs757783791	p.Asp1367Asn	missense variant	-	NC_000006.12:g.158503762G>A	ExAC,gnomAD
rs746265193	p.Ser1370Phe	missense variant	-	NC_000006.12:g.158503772C>T	ExAC,gnomAD
rs781351994	p.Ser1370Ala	missense variant	-	NC_000006.12:g.158503771T>G	ExAC,gnomAD
rs1291146012	p.Leu1371Pro	missense variant	-	NC_000006.12:g.158503775T>C	gnomAD
rs1214888387	p.Ile1372Val	missense variant	-	NC_000006.12:g.158503777A>G	TOPMed
rs768772992	p.Ile1372Met	missense variant	-	NC_000006.12:g.158503779C>G	TOPMed,gnomAD
rs1448787904	p.Ser1374Asn	missense variant	-	NC_000006.12:g.158503784G>A	gnomAD
rs778746328	p.Ser1374Gly	missense variant	-	NC_000006.12:g.158503783A>G	ExAC,gnomAD
rs918772573	p.His1376Arg	missense variant	-	NC_000006.12:g.158503790A>G	TOPMed,gnomAD
COSM3777277	p.Arg1379Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503799G>A	NCI-TCGA Cosmic
rs372715193	p.Arg1379Gly	missense variant	-	NC_000006.12:g.158503798A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1380Ter	stop gained	-	NC_000006.12:g.158503801G>T	NCI-TCGA
rs905972763	p.Glu1380Val	missense variant	-	NC_000006.12:g.158503802A>T	TOPMed
rs1324236156	p.Val1384Ala	missense variant	-	NC_000006.12:g.158503814T>C	TOPMed
NCI-TCGA novel	p.Gln1387His	missense variant	-	NC_000006.12:g.158503824G>C	NCI-TCGA
rs1398477147	p.Asp1389Glu	missense variant	-	NC_000006.12:g.158503830C>A	gnomAD
rs1316974737	p.Gln1390His	missense variant	-	NC_000006.12:g.158503833A>C	TOPMed,gnomAD
rs145543020	p.Leu1391Val	missense variant	-	NC_000006.12:g.158503834C>G	ESP,ExAC,TOPMed,gnomAD
rs1416226417	p.Ser1393Pro	missense variant	-	NC_000006.12:g.158503840T>C	gnomAD
rs759418306	p.Lys1395Gln	missense variant	-	NC_000006.12:g.158503846A>C	ExAC,gnomAD
rs765419907	p.Lys1395Thr	missense variant	-	NC_000006.12:g.158503847A>C	ExAC,gnomAD
rs548923370	p.Leu1396Phe	missense variant	-	NC_000006.12:g.158503851G>C	1000Genomes,ExAC,gnomAD
rs1222146121	p.Lys1398Asn	missense variant	-	NC_000006.12:g.158503857G>C	gnomAD
rs1283577627	p.Thr1399Ile	missense variant	-	NC_000006.12:g.158503859C>T	gnomAD
rs751651813	p.Glu1401Lys	missense variant	-	NC_000006.12:g.158503864G>A	ExAC,TOPMed,gnomAD
rs1255898313	p.Gln1403His	missense variant	-	NC_000006.12:g.158503872G>C	gnomAD
COSM3829555	p.Asp1404Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503874A>G	NCI-TCGA Cosmic
rs757656583	p.Ser1405Arg	missense variant	-	NC_000006.12:g.158503878C>A	ExAC
rs756561518	p.Glu1407Lys	missense variant	-	NC_000006.12:g.158503882G>A	ExAC,gnomAD
rs747737473	p.Glu1409Asp	missense variant	-	NC_000006.12:g.158503890G>T	ExAC,gnomAD
COSM3860066	p.Glu1409Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503888G>A	NCI-TCGA Cosmic
rs1256127212	p.Pro1410Leu	missense variant	-	NC_000006.12:g.158503892C>T	gnomAD
rs777372284	p.Ile1414Phe	missense variant	-	NC_000006.12:g.158503903A>T	ExAC,gnomAD
rs746565198	p.Gly1416Arg	missense variant	-	NC_000006.12:g.158503909G>A	ExAC,TOPMed,gnomAD
COSM3430300	p.Met1420Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503923G>T	NCI-TCGA Cosmic
rs770744631	p.Met1420Val	missense variant	-	NC_000006.12:g.158503921A>G	ExAC,gnomAD
rs776682725	p.Ser1423Gly	missense variant	-	NC_000006.12:g.158503930A>G	ExAC,gnomAD
COSM450811	p.Ser1423Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503932C>A	NCI-TCGA Cosmic
rs1271822217	p.Gln1424His	missense variant	-	NC_000006.12:g.158503935G>C	TOPMed
rs745633100	p.Gly1425Asp	missense variant	-	NC_000006.12:g.158503937G>A	ExAC,gnomAD
rs1200959199	p.Gly1425Ser	missense variant	-	NC_000006.12:g.158503936G>A	TOPMed
rs775264975	p.Ser1426Asn	missense variant	-	NC_000006.12:g.158503940G>A	ExAC,gnomAD
rs1236831941	p.Gly1429Ser	missense variant	-	NC_000006.12:g.158503948G>A	gnomAD
rs1278489081	p.Gly1429Asp	missense variant	-	NC_000006.12:g.158503949G>A	gnomAD
COSM483620	p.Trp1430Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503951T>A	NCI-TCGA Cosmic
rs1196755409	p.Trp1430Arg	missense variant	-	NC_000006.12:g.158503951T>C	gnomAD
rs1272678718	p.Ser1432Asn	missense variant	-	NC_000006.12:g.158503958G>A	TOPMed
rs374747883	p.Arg1434Cys	missense variant	-	NC_000006.12:g.158503963C>T	ESP,TOPMed,gnomAD
rs1000461301	p.Arg1434His	missense variant	-	NC_000006.12:g.158503964G>A	TOPMed,gnomAD
rs374747883	p.Arg1434Gly	missense variant	-	NC_000006.12:g.158503963C>G	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1435Phe	missense variant	-	NC_000006.12:g.158503967C>T	NCI-TCGA
rs774255031	p.Pro1436Leu	missense variant	-	NC_000006.12:g.158503970C>T	ExAC,gnomAD
COSM1441872	p.Pro1436Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503969C>T	NCI-TCGA Cosmic
rs148065194	p.Arg1437Gln	missense variant	-	NC_000006.12:g.158503973G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143590465	p.Arg1437Trp	missense variant	-	NC_000006.12:g.158503972C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148065194	p.Arg1437Leu	missense variant	-	NC_000006.12:g.158503973G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371614011	p.Ala1439Thr	missense variant	-	NC_000006.12:g.158503978G>A	ESP,ExAC,TOPMed,gnomAD
rs374975930	p.Gly1440Ser	missense variant	-	NC_000006.12:g.158503981G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756846764	p.Glu1441Lys	missense variant	-	NC_000006.12:g.158503984G>A	ExAC,TOPMed,gnomAD
rs1378406034	p.Leu1442Met	missense variant	-	NC_000006.12:g.158503987C>A	gnomAD
rs1443238993	p.Glu1444Lys	missense variant	-	NC_000006.12:g.158503993G>A	gnomAD
rs780984822	p.Glu1444Asp	missense variant	-	NC_000006.12:g.158503995G>C	ExAC,TOPMed,gnomAD
rs745747747	p.Ala1445Val	missense variant	-	NC_000006.12:g.158503997C>T	ExAC,gnomAD
rs749111822	p.Lys1446Arg	missense variant	-	NC_000006.12:g.158504000A>G	ExAC,gnomAD
rs1481221879	p.Cys1447Gly	missense variant	-	NC_000006.12:g.158504002T>G	TOPMed
rs774682466	p.Arg1448Trp	missense variant	-	NC_000006.12:g.158504005C>T	ExAC,TOPMed,gnomAD
rs74608225	p.Arg1448Gln	missense variant	-	NC_000006.12:g.158504006G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774682466	p.Arg1448Gly	missense variant	-	NC_000006.12:g.158504005C>G	ExAC,TOPMed,gnomAD
rs761215348	p.Arg1449Gln	missense variant	-	NC_000006.12:g.158504009G>A	ExAC,TOPMed,gnomAD
rs773179136	p.Arg1449Trp	missense variant	-	NC_000006.12:g.158504008C>T	ExAC,TOPMed,gnomAD
rs767028688	p.Ala1450Val	missense variant	-	NC_000006.12:g.158504012C>T	ExAC,gnomAD
rs1345792286	p.Ser1451Thr	missense variant	-	NC_000006.12:g.158504015G>C	TOPMed
rs1428817936	p.Ser1451Gly	missense variant	-	NC_000006.12:g.158504014A>G	TOPMed,gnomAD
rs754228324	p.Lys1453Glu	missense variant	-	NC_000006.12:g.158504020A>G	ExAC,TOPMed
rs1371178919	p.Glu1454Lys	missense variant	-	NC_000006.12:g.158504023G>A	TOPMed,gnomAD
rs1371178919	p.Glu1454Gln	missense variant	-	NC_000006.12:g.158504023G>C	TOPMed,gnomAD
rs763643235	p.Gly1456Arg	missense variant	-	NC_000006.12:g.158504029G>A	ExAC,TOPMed,gnomAD
rs200613954	p.Arg1457Gln	missense variant	-	NC_000006.12:g.158504033G>A	ESP,ExAC,TOPMed,gnomAD
rs751290022	p.Arg1457Trp	missense variant	-	NC_000006.12:g.158504032C>T	ExAC,gnomAD
rs1432427457	p.Gly1462Arg	missense variant	-	NC_000006.12:g.158504047G>C	TOPMed
NCI-TCGA novel	p.Gly1462Cys	missense variant	-	NC_000006.12:g.158504047G>T	NCI-TCGA
rs1324866311	p.Gly1462Asp	missense variant	-	NC_000006.12:g.158504048G>A	TOPMed,gnomAD
rs374827236	p.Val1464Leu	missense variant	-	NC_000006.12:g.158504053G>C	ESP,ExAC,TOPMed,gnomAD
rs374827236	p.Val1464Met	missense variant	-	NC_000006.12:g.158504053G>A	ESP,ExAC,TOPMed,gnomAD
rs1337658456	p.Val1464Ala	missense variant	-	NC_000006.12:g.158504054T>C	gnomAD
rs141683209	p.Val1466Met	missense variant	-	NC_000006.12:g.158504059G>A	ESP,ExAC,TOPMed,gnomAD
COSM1441874	p.Val1466Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158504059G>T	NCI-TCGA Cosmic
rs141683209	p.Val1466Leu	missense variant	-	NC_000006.12:g.158504059G>C	ESP,ExAC,TOPMed,gnomAD
rs1258549258	p.Met1467Val	missense variant	-	NC_000006.12:g.158504062A>G	TOPMed
COSM3860068	p.Ala1468Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158504065G>T	NCI-TCGA Cosmic
rs1485896421	p.Ala1468Val	missense variant	-	NC_000006.12:g.158504066C>T	gnomAD
rs1206336548	p.Asn1469Lys	missense variant	-	NC_000006.12:g.158504070C>A	gnomAD
rs1041700042	p.Leu1473Met	missense variant	-	NC_000006.12:g.158504080C>A	TOPMed
rs1188410945	p.Asn1475Ser	missense variant	-	NC_000006.12:g.158504087A>G	gnomAD
rs1474225838	p.Glu1476Lys	missense variant	-	NC_000006.12:g.158504089G>A	gnomAD
rs771544676	p.Ala1477Thr	missense variant	-	NC_000006.12:g.158504092G>A	ExAC,gnomAD
rs1383091048	p.Gln1482Pro	missense variant	-	NC_000006.12:g.158504108A>C	gnomAD
rs777338744	p.Phe1485Leu	missense variant	-	NC_000006.12:g.158504118C>A	ExAC,TOPMed
rs199660698	p.Gly1486Arg	missense variant	-	NC_000006.12:g.158504119G>A	ExAC,TOPMed,gnomAD
rs1355877861	p.Gly1486Ala	missense variant	-	NC_000006.12:g.158504120G>C	TOPMed
rs1318008139	p.Arg1488Gln	missense variant	-	NC_000006.12:g.158504126G>A	TOPMed,gnomAD
rs1312664843	p.Arg1488Trp	missense variant	-	NC_000006.12:g.158504125C>T	gnomAD
rs1258376331	p.Thr1490Ile	missense variant	-	NC_000006.12:g.158504132C>T	gnomAD
rs1211158748	p.Ala1494Thr	missense variant	-	NC_000006.12:g.158504143G>A	gnomAD
rs961757052	p.Phe1497Tyr	missense variant	-	NC_000006.12:g.158504153T>A	TOPMed
rs767105712	p.Phe1497Leu	missense variant	-	NC_000006.12:g.158504154C>A	ExAC,gnomAD
rs1484578265	p.Glu1500Gln	missense variant	-	NC_000006.12:g.158504161G>C	gnomAD
rs1420741399	p.Arg1504Gly	missense variant	-	NC_000006.12:g.158504173C>G	gnomAD
COSM3860069	p.Arg1504Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158504173C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg1504Leu	missense variant	-	NC_000006.12:g.158504174G>T	NCI-TCGA
rs749901873	p.Arg1504Gln	missense variant	-	NC_000006.12:g.158504174G>A	ExAC,TOPMed,gnomAD
rs1368404550	p.Met1507Val	missense variant	-	NC_000006.12:g.158506581A>G	gnomAD
NCI-TCGA novel	p.Gly1514Asp	missense variant	-	NC_000006.12:g.158506603G>A	NCI-TCGA
rs750133303	p.Ser1515Asn	missense variant	-	NC_000006.12:g.158506606G>A	ExAC,gnomAD
rs138246958	p.Ala1516Gly	missense variant	-	NC_000006.12:g.158506609C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138246958	p.Ala1516Val	missense variant	-	NC_000006.12:g.158506609C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1169181394	p.Ile1518Leu	missense variant	-	NC_000006.12:g.158506614A>C	TOPMed
NCI-TCGA novel	p.Phe1521Val	missense variant	-	NC_000006.12:g.158506623T>G	NCI-TCGA
rs752518412	p.Gln1522Arg	missense variant	-	NC_000006.12:g.158506627A>G	ExAC,gnomAD
rs541320923	p.Tyr1523Cys	missense variant	-	NC_000006.12:g.158506630A>G	1000Genomes,ExAC,gnomAD
rs1371179081	p.Tyr1523His	missense variant	-	NC_000006.12:g.158506629T>C	TOPMed
rs1189186554	p.Pro1524Leu	missense variant	-	NC_000006.12:g.158506633C>T	gnomAD
NCI-TCGA novel	p.Phe1525Leu	missense variant	-	NC_000006.12:g.158506637C>A	NCI-TCGA
rs1052291674	p.Ser1526Ala	missense variant	-	NC_000006.12:g.158506638T>G	TOPMed
rs748142377	p.Val1528Met	missense variant	-	NC_000006.12:g.158506644G>A	ExAC,TOPMed,gnomAD
rs1178170490	p.Asn1537Ser	missense variant	-	NC_000006.12:g.158506672A>G	gnomAD
rs775908189	p.Val1538Leu	missense variant	-	NC_000006.12:g.158506674G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1541His	missense variant	-	NC_000006.12:g.158506684G>A	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0005890	Body Height	phenotype	GWASCAT
C0432235	Cranioectodermal Dysplasia	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence

GO:Biological Process

GO ID	GO Term	Evidence
GO:0016567	protein ubiquitination	IEA
GO:0043687	post-translational protein modification	TAS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005737	cytoplasm	IDA
GO:0005829	cytosol	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-392499	Metabolism of proteins	TAS
R-HSA-597592	Post-translational protein modification	TAS
R-HSA-8951664	Neddylation	TAS

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 TULP4 mRNA	26377693
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in decreased expression of TULP4 mRNA	21354444
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of TULP4 mRNA	28628672
C029497	2,3-bis(3'-hydroxybenzyl)butyrolactone	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in decreased expression of TULP4 mRNA	19167446
C009407	2,5,2',5'-tetrachlorobiphenyl	2,5,2',5'-tetrachlorobiphenyl results in increased expression of TULP4 mRNA	23829299
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of TULP4 mRNA	20018196
D000082	Acetaminophen	Acetaminophen results in increased expression of TULP4 mRNA	29067470
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of TULP4 intron	30157460
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of TULP4 intron	30157460
D000661	Amphetamine	Amphetamine results in decreased expression of TULP4 mRNA	30779732
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of TULP4 mRNA	24449571
C030935	benz(a)anthracene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in increased expression of TULP4 mRNA	27858113
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of TULP4 intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of TULP4 mRNA	20064835; 20106945; 21632981;
D001564	Benzo(a)pyrene	AHR protein inhibits the reaction [Benzo(a)pyrene results in increased expression of TULP4 mRNA]	15034205
D001564	Benzo(a)pyrene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in increased expression of TULP4 mRNA	27858113
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of TULP4 mRNA	15034205; 22228805; 22610609;
C006703	benzo(b)fluoranthene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in increased expression of TULP4 mRNA	27858113
C006780	bisphenol A	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of TULP4 mRNA	28628672
C006780	bisphenol A	bisphenol A affects the methylation of TULP4 promoter	27334623
C006780	bisphenol A	bisphenol A results in decreased expression of TULP4 mRNA	26063408
C006780	bisphenol A	bisphenol A affects the expression of TULP4 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of TULP4 mRNA	29097150; 30816183;
C006780	bisphenol A	bisphenol A results in increased methylation of TULP4 gene	28505145
C018475	butyraldehyde	butyraldehyde results in decreased expression of TULP4 mRNA	26079696
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of TULP4 mRNA	17484886
D002737	Chloroprene	Chloroprene results in increased expression of TULP4 mRNA	23125180
C031180	chrysene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in increased expression of TULP4 mRNA	27858113
D002945	Cisplatin	Cisplatin results in decreased expression of TULP4 mRNA	27392435
D003033	Coal Tar	Coal Tar results in decreased expression of TULP4 mRNA	27858113
D003375	Coumestrol	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in decreased expression of TULP4 mRNA	19167446
D003375	Coumestrol	Coumestrol results in decreased expression of TULP4 mRNA	19167446
D016572	Cyclosporine	Cyclosporine results in increased methylation of TULP4 promoter	27989131
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in decreased expression of TULP4 mRNA	23914054
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of TULP4 mRNA	28628672
C000944	dicrotophos	dicrotophos results in increased expression of TULP4 mRNA	28302478
D004052	Diethylnitrosamine	[Piperonyl Butoxide co-treated with Diethylnitrosamine] affects the methylation of TULP4 gene	23968726
D004237	Diuron	Diuron results in decreased expression of TULP4 mRNA	25152437
C045651	epigallocatechin gallate	epigallocatechin gallate results in increased expression of TULP4 mRNA	22079256
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of TULP4 mRNA	22079256
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of TULP4 mRNA	17555576
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of TULP4 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of TULP4 mRNA	17942748
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of TULP4 mRNA	29097150
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of TULP4 mRNA	23129252
C007836	geraniol	geraniol results in increased expression of TULP4 mRNA	27683099
D005947	Glucose	[INS protein co-treated with Glucose] results in increased expression of TULP4 mRNA	22634610
C000593030	GSK-J4	GSK-J4 results in increased expression of TULP4 mRNA	29301935
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of TULP4 mRNA	28628672
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of TULP4 mRNA	25613284
D000077339	Leflunomide	Leflunomide results in increased expression of TULP4 mRNA	28988120
D008627	Mercuric Chloride	Mercuric Chloride results in decreased expression of TULP4 mRNA	27188386
D010882	Piperonyl Butoxide	[Piperonyl Butoxide co-treated with Diethylnitrosamine] affects the methylation of TULP4 gene	23968726
C006253	pirinixic acid	pirinixic acid results in increased expression of TULP4 mRNA	21318169
C006253	pirinixic acid	PPARA protein affects the reaction [pirinixic acid results in increased expression of TULP4 mRNA]	21318169
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of TULP4 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of TULP4 mRNA	22079256
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of TULP4 mRNA	31299295
D013629	Tamoxifen	Tamoxifen affects the expression of TULP4 mRNA	17555576
D013749	Tetrachlorodibenzodioxin	AHR protein inhibits the reaction [Tetrachlorodibenzodioxin results in increased expression of TULP4 mRNA]	15034205
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of TULP4 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of TULP4 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of TULP4 mRNA	15034205
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of TULP4 mRNA	25613284
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of TULP4 mRNA	19969065
D014212	Tretinoin	Tretinoin results in increased expression of TULP4 mRNA	23724009
D014520	Urethane	Urethane results in increased expression of TULP4 mRNA	28818685
D014635	Valproic Acid	Valproic Acid results in increased methylation of TULP4 gene	29154799
D014635	Valproic Acid	Valproic Acid affects the splicing of TULP4 mRNA	29427782
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of TULP4 gene	25560391
D014750	Vincristine	Vincristine results in increased expression of TULP4 mRNA	23649840
D024483	Vitamin K 3	Vitamin K 3 affects the expression of TULP4 mRNA	20044591
D000077337	Vorinostat	Vorinostat results in decreased expression of TULP4 mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0963	Cytoplasm
KW-0488	Methylation
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0833	Ubl conjugation pathway
KW-0853	WD repeat

Interpro

InterPro ID	InterPro Term
IPR001496	SOCS_box
IPR025659	Tubby-like_C
IPR000007	Tubby_C
IPR008983	Tumour_necrosis_fac-like_dom
IPR015943	WD40/YVTN_repeat-like_dom_sf
IPR001680	WD40_repeat
IPR017986	WD40_repeat_dom
IPR036322	WD40_repeat_dom_sf

PROSITE

PROSITE ID	PROSITE Term
PS50225	SOCS
PS50082	WD_REPEATS_2
PS50294	WD_REPEATS_REGION

Pfam

Pfam ID	Pfam Term
PF01167	Tub

Gene: TULP4

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