CleftGeneDB-Search

Gene: MGAM

Basic information

Tag	Content
Uniprot ID	O43451; Q0VAX6; Q75ME7; Q86UM5;
Entrez ID	8972
Genbank protein ID	AAI20873.1; AAS07445.1; AAP21875.1; AAC39568.2;
Genbank nucleotide ID	NM_004668.2
Ensembl protein ID	ENSP00000482292; ENSP00000447378;
Ensembl nucleotide ID	ENSG00000257335
Gene name	Maltase-glucoamylase, intestinal
Gene symbol	MGAM
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	25776870
Functional description	May serve as an alternate pathway for starch digestion when luminal alpha-amylase activity is reduced because of immaturity or malnutrition. May play a unique role in the digestion of malted dietary oligosaccharides used in food manufacturing.
Sequence	MARKKLKKFT TLEIVLSVLL LVLFIISIVL IVLLAKESLK STAPDPGTTG TPDPGTTGTP 60 DPGTTGTTHA RTTGPPDPGT TGTTPVSAEC PVVNELERIN CIPDQPPTKA TCDQRGCCWN 120 PQGAVSVPWC YYSKNHSYHV EGNLVNTNAG FTARLKNLPS SPVFGSNVDN VLLTAEYQTS 180 NRFHFKLTDQ TNNRFEVPHE HVQSFSGNAA ASLTYQVEIS RQPFSIKVTR RSNNRVLFDS 240 SIGPLLFADQ FLQLSTRLPS TNVYGLGEHV HQQYRHDMNW KTWPIFNRDT TPNGNGTNLY 300 GAQTFFLCLE DASGLSFGVF LMNSNAMEVV LQPAPAITYR TIGGILDFYV FLGNTPEQVV 360 QEYLELIGRP ALPSYWALGF HLSRYEYGTL DNMREVVERN RAAQLPYDVQ HADIDYMDER 420 RDFTYDSVDF KGFPEFVNEL HNNGQKLVII VDPAISNNSS SSKPYGPYDR GSDMKIWVNS 480 SDGVTPLIGE VWPGQTVFPD YTNPNCAVWW TKEFELFHNQ VEFDGIWIDM NEVSNFVDGS 540 VSGCSTNNLN NPPFTPRILD GYLFCKTLCM DAVQHWGKQY DIHNLYGYSM AVATAEAAKT 600 VFPNKRSFIL TRSTFAGSGK FAAHWLGDNT ATWDDLRWSI PGVLEFNLFG IPMVGPDICG 660 FALDTPEELC RRWMQLGAFY PFSRNHNGQG YKDQDPASFG ADSLLLNSSR HYLNIRYTLL 720 PYLYTLFFRA HSRGDTVARP LLHEFYEDNS TWDVHQQFLW GPGLLITPVL DEGAEKVMAY 780 VPDAVWYDYE TGSQVRWRKQ KVEMELPGDK IGLHLRGGYI FPTQQPNTTT LASRKNPLGL 840 IIALDENKEA KGELFWDNGE TKDTVANKVY LLCEFSVTQN RLEVNISQST YKDPNNLAFN 900 EIKILGTEEP SNVTVKHNGV PSQTSPTVTY DSNLKVAIIT DIDLLLGEAY TVEWSIKIRD 960 EEKIDCYPDE NGASAENCTA RGCIWEASNS SGVPFCYFVN DLYSVSDVQY NSHGATADIS 1020 LKSSVYANAF PSTPVNPLRL DVTYHKNEML QFKIYDPNKN RYEVPVPLNI PSMPSSTPEG 1080 QLYDVLIKKN PFGIEIRRKS TGTIIWDSQL LGFTFSDMFI RISTRLPSKY LYGFGETEHR 1140 SYRRDLEWHT WGMFSRDQPP GYKKNSYGVH PYYMGLEEDG SAHGVLLLNS NAMDVTFQPL 1200 PALTYRTTGG VLDFYVFLGP TPELVTQQYT ELIGRPVMVP YWSLGFQLCR YGYQNDSEIA 1260 SLYDEMVAAQ IPYDVQYSDI DYMERQLDFT LSPKFAGFPA LINRMKADGM RVILILDPAI 1320 SGNETQPYPA FTRGVEDDVF IKYPNDGDIV WGKVWPDFPD VVVNGSLDWD SQVELYRAYV 1380 AFPDFFRNST AKWWKREIEE LYNNPQNPER SLKFDGMWID MNEPSSFVNG AVSPGCRDAS 1440 LNHPPYMPHL ESRDRGLSSK TLCMESQQIL PDGSLVQHYN VHNLYGWSQT RPTYEAVQEV 1500 TGQRGVVITR STFPSSGRWA GHWLGDNTAA WDQLKKSIIG MMEFSLFGIS YTGADICGFF 1560 QDAEYEMCVR WMQLGAFYPF SRNHNTIGTR RQDPVSWDVA FVNISRTVLQ TRYTLLPYLY 1620 TLMHKAHTEG VTVVRPLLHE FVSDQVTWDI DSQFLLGPAF LVSPVLERNA RNVTAYFPRA 1680 RWYDYYTGVD INARGEWKTL PAPLDHINLH VRGGYILPWQ EPALNTHLSR QKFMGFKIAL 1740 DDEGTAGGWL FWDDGQSIDT YGKGLYYLAS FSASQNTMQS HIIFNNYITG TNPLKLGYIE 1800 IWGVGSVPVT SVSISVSGMV ITPSFNNDPT TQVLSIDVTD RNISLHNFTS LTWISTL 1857

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
2QLY
2QMJ
3CTT
3L4T
3L4U
3L4V
3L4W
3L4X
3L4Y
3L4Z
3TON
3TOP
2QLY
2QMJ
3L4Y
3TON

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1554452045	p.Lys5Gln	missense variant	-	NC_000007.14:g.142005543A>C	gnomAD
rs782042260	p.Leu6Val	missense variant	-	NC_000007.14:g.142005546C>G	ExAC,gnomAD
COSM3878809	p.Lys8Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142005552A>C	NCI-TCGA Cosmic
rs782148481	p.Lys8Ile	missense variant	-	NC_000007.14:g.142005553A>T	ExAC,gnomAD
COSM1448682	p.Phe9Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142005555T>A	NCI-TCGA Cosmic
rs1554452053	p.Phe9Tyr	missense variant	-	NC_000007.14:g.142005556T>A	gnomAD
NCI-TCGA novel	p.Phe9LeuPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.142005555T>-	NCI-TCGA
rs1554452053	p.Phe9Tyr	missense variant	-	NC_000007.14:g.142005556T>A	NCI-TCGA
rs972193872	p.Thr10Ser	missense variant	-	NC_000007.14:g.142005559C>G	TOPMed
rs1554452062	p.Thr11Asn	missense variant	-	NC_000007.14:g.142005562C>A	gnomAD
rs1554452058	p.Thr11Ala	missense variant	-	NC_000007.14:g.142005561A>G	gnomAD
rs1554452062	p.Thr11Asn	missense variant	-	NC_000007.14:g.142005562C>A	NCI-TCGA
rs1554452067	p.Glu13Gly	missense variant	-	NC_000007.14:g.142005568A>G	gnomAD
rs919382645	p.Ile14Phe	missense variant	-	NC_000007.14:g.142005570A>T	TOPMed
rs782787898	p.Ile14Met	missense variant	-	NC_000007.14:g.142005572T>G	ExAC,gnomAD
rs919382645	p.Ile14Val	missense variant	-	NC_000007.14:g.142005570A>G	TOPMed
rs1554452070	p.Val15Met	missense variant	-	NC_000007.14:g.142005573G>A	gnomAD
rs1554452070	p.Val15Met	missense variant	-	NC_000007.14:g.142005573G>A	NCI-TCGA
rs781847084	p.Val18Ile	missense variant	-	NC_000007.14:g.142005582G>A	ExAC,TOPMed
COSM461668	p.Leu19Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142005585C>A	NCI-TCGA Cosmic
rs782491643	p.Leu19Phe	missense variant	-	NC_000007.14:g.142005585C>T	ExAC,gnomAD
rs1398823313	p.Leu21Phe	missense variant	-	NC_000007.14:g.142005591C>T	TOPMed
rs1554452086	p.Val22Met	missense variant	-	NC_000007.14:g.142005594G>A	gnomAD
rs1554452092	p.Leu23Ter	stop gained	-	NC_000007.14:g.142005598T>A	gnomAD
rs61733478	p.Ile25Leu	missense variant	-	NC_000007.14:g.142005603A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs61733478	p.Ile25Val	missense variant	-	NC_000007.14:g.142005603A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1167591977	p.Ser27Asn	missense variant	-	NC_000007.14:g.142005610G>A	TOPMed,gnomAD
rs1554452098	p.Ile28Val	missense variant	-	NC_000007.14:g.142005612A>G	gnomAD
rs201144916	p.Ile28Thr	missense variant	-	NC_000007.14:g.142005613T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1554452103	p.Leu30Pro	missense variant	-	NC_000007.14:g.142005619T>C	gnomAD
rs782681405	p.Ile31Val	missense variant	-	NC_000007.14:g.142005621A>G	ExAC,gnomAD
rs1554452108	p.Val32Leu	missense variant	-	NC_000007.14:g.142005624G>T	gnomAD
rs782499547	p.Lys36Glu	missense variant	-	NC_000007.14:g.142005636A>G	ExAC,gnomAD
rs782499547	p.Lys36Glu	missense variant	-	NC_000007.14:g.142005636A>G	NCI-TCGA,NCI-TCGA Cosmic
rs782627328	p.Ser38Thr	missense variant	-	NC_000007.14:g.142005642T>A	ExAC,gnomAD
rs782209727	p.Leu39Val	missense variant	-	NC_000007.14:g.142005645C>G	ExAC,gnomAD
rs782329352	p.Lys40Ile	missense variant	-	NC_000007.14:g.142005649A>T	ExAC,TOPMed,gnomAD
rs1439042125	p.Ser41Ter	stop gained	-	NC_000007.14:g.142005652C>G	TOPMed
rs1554453211	p.Ala43Val	missense variant	-	NC_000007.14:g.142008506C>T	gnomAD
COSM4465151	p.Pro46Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142008514C>T	NCI-TCGA Cosmic
rs199885071	p.Thr48Ile	missense variant	-	NC_000007.14:g.142008521C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199885071	p.Thr48Arg	missense variant	-	NC_000007.14:g.142008521C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1554453220	p.Thr49Ala	missense variant	-	NC_000007.14:g.142008523A>G	gnomAD
rs782372470	p.Gly50Ser	missense variant	-	NC_000007.14:g.142008526G>A	ExAC,gnomAD
rs1458554924	p.Gly50Val	missense variant	-	NC_000007.14:g.142008527G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gly50Cys	missense variant	-	NC_000007.14:g.142008526G>T	NCI-TCGA
rs1554453228	p.Thr51Ile	missense variant	-	NC_000007.14:g.142008530C>T	gnomAD
rs1554453228	p.Thr51Asn	missense variant	-	NC_000007.14:g.142008530C>A	gnomAD
rs1554453228	p.Thr51Ile	missense variant	-	NC_000007.14:g.142008530C>T	NCI-TCGA
rs868912593	p.Pro52Thr	missense variant	-	NC_000007.14:g.142008532C>A	TOPMed
rs1322962933	p.Asp53His	missense variant	-	NC_000007.14:g.142008535G>C	TOPMed
rs1290003171	p.Pro54Ala	missense variant	-	NC_000007.14:g.142008538C>G	TOPMed
NCI-TCGA novel	p.Pro54Thr	missense variant	-	NC_000007.14:g.142008538C>A	NCI-TCGA
rs1238905951	p.Gly55Arg	missense variant	-	NC_000007.14:g.142008541G>A	TOPMed
rs931531509	p.Thr56Ile	missense variant	-	NC_000007.14:g.142008545C>T	TOPMed
NCI-TCGA novel	p.Thr57Asn	missense variant	-	NC_000007.14:g.142008548C>A	NCI-TCGA
NCI-TCGA novel	p.Gly58Asp	missense variant	-	NC_000007.14:g.142008551G>A	NCI-TCGA
rs1291693920	p.Thr59Pro	missense variant	-	NC_000007.14:g.142008553A>C	TOPMed
rs1554453251	p.Pro60Leu	missense variant	-	NC_000007.14:g.142008557C>T	gnomAD
NCI-TCGA novel	p.Pro60Arg	missense variant	-	NC_000007.14:g.142008557C>G	NCI-TCGA
rs182921681	p.Asp61His	missense variant	-	NC_000007.14:g.142008559G>C	1000Genomes,ExAC,gnomAD
rs1554453252	p.Asp61Val	missense variant	-	NC_000007.14:g.142008560A>T	gnomAD
rs541807685	p.Pro62Leu	missense variant	-	NC_000007.14:g.142008563C>T	1000Genomes,ExAC
rs541807685	p.Pro62Leu	missense variant	-	NC_000007.14:g.142008563C>T	NCI-TCGA,NCI-TCGA Cosmic
rs781920229	p.Gly63Glu	missense variant	-	NC_000007.14:g.142008566G>A	ExAC,gnomAD
rs201790349	p.Gly63Ter	stop gained	-	NC_000007.14:g.142008565G>T	1000Genomes
rs782165691	p.Thr64Lys	missense variant	-	NC_000007.14:g.142008569C>A	ExAC,gnomAD
rs1351649385	p.Thr64Pro	missense variant	-	NC_000007.14:g.142008568A>C	TOPMed,gnomAD
rs569885905	p.Gly66Ser	missense variant	-	NC_000007.14:g.142008574G>A	ExAC,TOPMed,gnomAD
rs1419269717	p.Thr67Ile	missense variant	-	NC_000007.14:g.142008578C>T	TOPMed,gnomAD
rs1378707447	p.Thr68Pro	missense variant	-	NC_000007.14:g.142008580A>C	TOPMed
rs571920896	p.His69Asn	missense variant	-	NC_000007.14:g.142008583C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs782733042	p.His69Arg	missense variant	-	NC_000007.14:g.142008584A>G	ExAC,TOPMed,gnomAD
rs571920896	p.His69Asp	missense variant	-	NC_000007.14:g.142008583C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1189940892	p.Ala70Pro	missense variant	-	NC_000007.14:g.142008586G>C	TOPMed
rs1189940892	p.Ala70Ser	missense variant	-	NC_000007.14:g.142008586G>T	TOPMed
rs1246724582	p.Arg71Gly	missense variant	-	NC_000007.14:g.142008589A>G	TOPMed
rs1554453288	p.Arg71Met	missense variant	-	NC_000007.14:g.142008590G>T	gnomAD
NCI-TCGA novel	p.Thr72Ile	missense variant	-	NC_000007.14:g.142008593C>T	NCI-TCGA
rs201174904	p.Thr73Met	missense variant	-	NC_000007.14:g.142008596C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781891982	p.Gly74Asp	missense variant	-	NC_000007.14:g.142008599G>A	ExAC,gnomAD
rs1554453301	p.Pro75Leu	missense variant	-	NC_000007.14:g.142008602C>T	gnomAD
rs200220205	p.Pro75Thr	missense variant	-	NC_000007.14:g.142008601C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro75Ser	missense variant	-	NC_000007.14:g.142008601C>T	NCI-TCGA
rs369561557	p.Pro76Ser	missense variant	-	NC_000007.14:g.142008604C>T	ESP,TOPMed
rs1554453306	p.Pro76Gln	missense variant	-	NC_000007.14:g.142008605C>A	gnomAD
rs782638645	p.Asp77Gly	missense variant	-	NC_000007.14:g.142008608A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp77Glu	missense variant	-	NC_000007.14:g.142008609T>A	NCI-TCGA
rs781834966	p.Pro78Ser	missense variant	-	NC_000007.14:g.142008610C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro78Ala	missense variant	-	NC_000007.14:g.142008610C>G	NCI-TCGA
rs1554453315	p.Gly82Asp	missense variant	-	NC_000007.14:g.142008623G>A	gnomAD
rs1220828400	p.Thr83Asn	missense variant	-	NC_000007.14:g.142008626C>A	TOPMed
rs1554453321	p.Thr84Ile	missense variant	-	NC_000007.14:g.142008629C>T	gnomAD
rs1554453330	p.Pro85Ala	missense variant	-	NC_000007.14:g.142008631C>G	gnomAD
rs373889066	p.Val86Ala	missense variant	-	NC_000007.14:g.142008635T>C	ESP,ExAC,TOPMed,gnomAD
rs1554453338	p.Ser87Phe	missense variant	-	NC_000007.14:g.142008638C>T	gnomAD
rs1554453338	p.Ser87Phe	missense variant	-	NC_000007.14:g.142008638C>T	NCI-TCGA Cosmic
rs142208150	p.Ala88Val	missense variant	-	NC_000007.14:g.142008641C>T	1000Genomes
rs1303770858	p.Glu89Gly	missense variant	-	NC_000007.14:g.142008644A>G	TOPMed,gnomAD
rs1303770858	p.Glu89Ala	missense variant	-	NC_000007.14:g.142008644A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu89Ter	stop gained	-	NC_000007.14:g.142008643G>T	NCI-TCGA
NCI-TCGA novel	p.Glu89Asp	missense variant	-	NC_000007.14:g.142008645A>C	NCI-TCGA
rs1358768865	p.Cys90Ser	missense variant	-	NC_000007.14:g.142008646T>A	TOPMed
NCI-TCGA novel	p.Pro91IlePheSerTerUnk	frameshift	-	NC_000007.14:g.142008648_142008649insATTTA	NCI-TCGA
NCI-TCGA novel	p.Pro91LeuCysIleSerIleSer	insertion	-	NC_000007.14:g.142008649_142008650insCTTTGTGTATCTCTATAT	NCI-TCGA
NCI-TCGA novel	p.Val92LeuPheSerTerUnk	frameshift	-	NC_000007.14:g.142008650_142008651insTTTGTGTATCTCT	NCI-TCGA
NCI-TCGA novel	p.Val93Leu	missense variant	-	NC_000007.14:g.142008655G>T	NCI-TCGA
NCI-TCGA novel	p.Asn94Asp	missense variant	-	NC_000007.14:g.142008658A>G	NCI-TCGA
COSM1086369	p.Glu95Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.142008661G>T	NCI-TCGA Cosmic
rs782260235	p.Glu97Val	missense variant	-	NC_000007.14:g.142008668A>T	ExAC,gnomAD
rs782363163	p.Arg98Ter	stop gained	-	NC_000007.14:g.142008670C>T	ExAC,TOPMed,gnomAD
rs779098977	p.Arg98Gln	missense variant	-	NC_000007.14:g.142008671G>A	NCI-TCGA,NCI-TCGA Cosmic
rs779098977	p.Arg98Gln	missense variant	-	NC_000007.14:g.142008671G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys101Ter	stop gained	-	NC_000007.14:g.142008681C>A	NCI-TCGA
rs1554453368	p.Pro103Ser	missense variant	-	NC_000007.14:g.142008685C>T	gnomAD
rs782038080	p.Asp104Glu	missense variant	-	NC_000007.14:g.142008690C>A	ExAC,gnomAD
rs1554453371	p.Asp104Ala	missense variant	-	NC_000007.14:g.142008689A>C	gnomAD
NCI-TCGA novel	p.Asp104Glu	missense variant	-	NC_000007.14:g.142008690C>G	NCI-TCGA
NCI-TCGA novel	p.Gln105Lys	missense variant	-	NC_000007.14:g.142008691C>A	NCI-TCGA
rs748580642	p.Pro106Leu	missense variant	-	NC_000007.14:g.142008695C>T	NCI-TCGA,NCI-TCGA Cosmic
rs748580642	p.Pro106Leu	missense variant	-	NC_000007.14:g.142008695C>T	ExAC,TOPMed,gnomAD
rs1554453383	p.Thr108Ala	missense variant	-	NC_000007.14:g.142008700A>G	gnomAD
rs1554453387	p.Lys109Glu	missense variant	-	NC_000007.14:g.142008703A>G	gnomAD
rs1554453387	p.Lys109Glu	missense variant	-	NC_000007.14:g.142008703A>G	NCI-TCGA Cosmic
rs782768460	p.Ala110Ser	missense variant	-	NC_000007.14:g.142019199G>T	ExAC,gnomAD
rs782768460	p.Ala110Thr	missense variant	-	NC_000007.14:g.142019199G>A	ExAC,gnomAD
rs374528123	p.Thr111Ile	missense variant	-	NC_000007.14:g.142019203C>T	ESP,ExAC,TOPMed,gnomAD
COSM1548477	p.Cys112Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142019206G>A	NCI-TCGA Cosmic
rs782730354	p.Arg115Cys	missense variant	-	NC_000007.14:g.142019214C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg115Ser	missense variant	-	NC_000007.14:g.142019214C>A	NCI-TCGA
rs1554457449	p.Arg115His	missense variant	-	NC_000007.14:g.142019215G>A	gnomAD
rs1554457449	p.Arg115His	missense variant	-	NC_000007.14:g.142019215G>A	NCI-TCGA Cosmic
rs782504315	p.Gly116Ser	missense variant	-	NC_000007.14:g.142019217G>A	TOPMed
rs781792206	p.Cys117Arg	missense variant	-	NC_000007.14:g.142019220T>C	ExAC,TOPMed,gnomAD
rs782552577	p.Cys117Tyr	missense variant	-	NC_000007.14:g.142019221G>A	ExAC,gnomAD
rs1554457472	p.Trp119Ter	stop gained	-	NC_000007.14:g.142019228G>A	gnomAD
rs376282334	p.Trp119Arg	missense variant	-	NC_000007.14:g.142019226T>C	ESP,ExAC,TOPMed,gnomAD
rs1554457472	p.Trp119Ter	stop gained	-	NC_000007.14:g.142019228G>A	NCI-TCGA
rs576626552	p.Asn120Thr	missense variant	-	NC_000007.14:g.142019230A>C	gnomAD
rs576626552	p.Asn120Ile	missense variant	-	NC_000007.14:g.142019230A>T	gnomAD
rs1187691812	p.Asn120Lys	missense variant	-	NC_000007.14:g.142019231T>A	TOPMed
COSM3922854	p.Pro121Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142019232C>T	NCI-TCGA Cosmic
rs1475463265	p.Gly123Glu	missense variant	-	NC_000007.14:g.142019239G>A	NCI-TCGA Cosmic
rs1475463265	p.Gly123Glu	missense variant	-	NC_000007.14:g.142019239G>A	TOPMed
rs782272356	p.Val125Leu	missense variant	-	NC_000007.14:g.142019244G>C	ExAC,TOPMed,gnomAD
rs782272356	p.Val125Ile	missense variant	-	NC_000007.14:g.142019244G>A	ExAC,TOPMed,gnomAD
rs782616300	p.Val127Ala	missense variant	-	NC_000007.14:g.142019251T>C	ExAC,TOPMed,gnomAD
rs782517449	p.Val127Ile	missense variant	-	NC_000007.14:g.142019250G>A	ExAC,TOPMed,gnomAD
rs782517449	p.Val127Phe	missense variant	-	NC_000007.14:g.142019250G>T	ExAC,TOPMed,gnomAD
rs782616300	p.Val127Gly	missense variant	-	NC_000007.14:g.142019251T>G	ExAC,TOPMed,gnomAD
rs1216348444	p.Pro128Ser	missense variant	-	NC_000007.14:g.142019253C>T	TOPMed
NCI-TCGA novel	p.Pro128Leu	missense variant	-	NC_000007.14:g.142019254C>T	NCI-TCGA
rs782204750	p.Trp129Arg	missense variant	-	NC_000007.14:g.142019256T>C	ExAC,gnomAD
COSM1086383	p.Cys130Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142019260G>A	NCI-TCGA Cosmic
rs1554457525	p.Tyr131Cys	missense variant	-	NC_000007.14:g.142019263A>G	gnomAD
rs1362739572	p.Tyr131Asp	missense variant	-	NC_000007.14:g.142019262T>G	TOPMed,gnomAD
rs1362739572	p.Tyr131His	missense variant	-	NC_000007.14:g.142019262T>C	TOPMed,gnomAD
rs1314505018	p.Tyr131Ter	stop gained	-	NC_000007.14:g.142019264C>A	TOPMed
rs1450690513	p.Tyr132Cys	missense variant	-	NC_000007.14:g.142019266A>G	TOPMed
COSM1548473	p.Ser133Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142019269C>T	NCI-TCGA Cosmic
COSM1086386	p.Lys134Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142019273G>T	NCI-TCGA Cosmic
rs370701658	p.Lys134Arg	missense variant	-	NC_000007.14:g.142019272A>G	ESP,ExAC,TOPMed,gnomAD
rs782291424	p.Asn135Ser	missense variant	-	NC_000007.14:g.142019275A>G	ExAC,gnomAD
rs114936410	p.His136Arg	missense variant	-	NC_000007.14:g.142019278A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1353207268	p.His139Tyr	missense variant	-	NC_000007.14:g.142019286C>T	TOPMed,gnomAD
rs368074859	p.Gly142Ser	missense variant	-	NC_000007.14:g.142019295G>A	ESP,ExAC,TOPMed,gnomAD
rs1384044094	p.Gly142Val	missense variant	-	NC_000007.14:g.142019296G>T	TOPMed
rs1384044094	p.Gly142Asp	missense variant	-	NC_000007.14:g.142019296G>A	TOPMed
rs1554457576	p.Leu144Pro	missense variant	-	NC_000007.14:g.142019302T>C	gnomAD
NCI-TCGA novel	p.Val145Gly	missense variant	-	NC_000007.14:g.142019305T>G	NCI-TCGA
rs1554457581	p.Thr147Ile	missense variant	-	NC_000007.14:g.142019311C>T	gnomAD
rs1554457583	p.Asn148Lys	missense variant	-	NC_000007.14:g.142019315T>G	gnomAD
rs781892890	p.Ala149Val	missense variant	-	NC_000007.14:g.142019317C>T	ExAC,gnomAD
rs782811489	p.Ala149Thr	missense variant	-	NC_000007.14:g.142019316G>A	ExAC,TOPMed,gnomAD
rs782771834	p.Gly150Arg	missense variant	-	NC_000007.14:g.142019319G>C	ExAC,gnomAD
rs1554458472	p.Gly150Glu	missense variant	-	NC_000007.14:g.142020974G>A	gnomAD
rs191137461	p.Arg154Trp	missense variant	-	NC_000007.14:g.142020985C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg154PhePheSerTerUnkUnk	frameshift	-	NC_000007.14:g.142020982_142020998GCCCGGTTGAAAAATCT>-	NCI-TCGA
rs200453166	p.Arg154Gln	missense variant	-	NC_000007.14:g.142020986G>A	ExAC,TOPMed,gnomAD
rs1554458479	p.Asn157Tyr	missense variant	-	NC_000007.14:g.142020994A>T	gnomAD
rs782294372	p.Pro162Arg	missense variant	-	NC_000007.14:g.142021010C>G	ExAC,gnomAD
rs369689890	p.Val163Ala	missense variant	-	NC_000007.14:g.142021013T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly165Glu	missense variant	-	NC_000007.14:g.142021019G>A	NCI-TCGA
rs782250332	p.Ser166Gly	missense variant	-	NC_000007.14:g.142021021A>G	ExAC,gnomAD
rs1474856078	p.Asn167Ser	missense variant	-	NC_000007.14:g.142021025A>G	TOPMed,gnomAD
rs782367862	p.Val168Ile	missense variant	-	NC_000007.14:g.142021027G>A	ExAC,gnomAD
rs781955537	p.Asp169Glu	missense variant	-	NC_000007.14:g.142021032C>A	ExAC,gnomAD
rs782073483	p.Asn170Ser	missense variant	-	NC_000007.14:g.142021034A>G	ExAC,gnomAD
rs782028908	p.Leu173Pro	missense variant	-	NC_000007.14:g.142021043T>C	ExAC,TOPMed,gnomAD
rs1554458536	p.Thr174Ile	missense variant	-	NC_000007.14:g.142021046C>T	gnomAD
rs782136193	p.Glu176Gln	missense variant	-	NC_000007.14:g.142021051G>C	ExAC,gnomAD
rs782787435	p.Glu176Asp	missense variant	-	NC_000007.14:g.142021053A>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu176Ter	stop gained	-	NC_000007.14:g.142021051G>T	NCI-TCGA
COSM4401411	p.Gln178Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.142021057C>T	NCI-TCGA Cosmic
rs781983176	p.Gln178Arg	missense variant	-	NC_000007.14:g.142021058A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser180Thr	missense variant	-	NC_000007.14:g.142021063T>A	NCI-TCGA
rs201586821	p.Asn181Asp	missense variant	-	NC_000007.14:g.142021066A>G	ExAC,TOPMed,gnomAD
rs146995745	p.Arg182Cys	missense variant	-	NC_000007.14:g.142021069C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs781807541	p.Arg182His	missense variant	-	NC_000007.14:g.142021070G>A	ExAC,TOPMed,gnomAD
rs782786733	p.His184Leu	missense variant	-	NC_000007.14:g.142021076A>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys186Asn	missense variant	-	NC_000007.14:g.142021083G>T	NCI-TCGA
rs1554458824	p.Thr188Pro	missense variant	-	NC_000007.14:g.142021589A>C	gnomAD
rs577101147	p.Asp189Asn	missense variant	-	NC_000007.14:g.142021592G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1554458828	p.Gln190Glu	missense variant	-	NC_000007.14:g.142021595C>G	gnomAD
rs369486229	p.Asn192Ile	missense variant	-	NC_000007.14:g.142021602A>T	ESP,ExAC,TOPMed,gnomAD
rs369486229	p.Asn192Thr	missense variant	-	NC_000007.14:g.142021602A>C	ESP,ExAC,TOPMed,gnomAD
rs1554458839	p.Asn193Ser	missense variant	-	NC_000007.14:g.142021605A>G	gnomAD
rs957482156	p.Glu200Lys	missense variant	-	NC_000007.14:g.142021625G>A	gnomAD
NCI-TCGA novel	p.Glu200Ter	stop gained	-	NC_000007.14:g.142021625G>T	NCI-TCGA
rs2272326	p.His201Gln	missense variant	-	NC_000007.14:g.142021630C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1392346006	p.His201Arg	missense variant	-	NC_000007.14:g.142021629A>G	TOPMed,gnomAD
NCI-TCGA novel	p.His201Gln	missense variant	-	NC_000007.14:g.142021630C>G	NCI-TCGA
rs368879552	p.Val202Met	missense variant	-	NC_000007.14:g.142021631G>A	ESP,ExAC,TOPMed,gnomAD
rs368879552	p.Val202Leu	missense variant	-	NC_000007.14:g.142021631G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe205Leu	missense variant	-	NC_000007.14:g.142021640T>C	NCI-TCGA
rs782107962	p.Ser206Gly	missense variant	-	NC_000007.14:g.142021643A>G	ExAC,TOPMed,gnomAD
rs782107962	p.Ser206Arg	missense variant	-	NC_000007.14:g.142021643A>C	ExAC,TOPMed,gnomAD
COSM3922858	p.Gly207Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142021647G>A	NCI-TCGA Cosmic
rs1273362632	p.Gly207Ala	missense variant	-	NC_000007.14:g.142021647G>C	TOPMed
rs782342749	p.Gly207Arg	missense variant	-	NC_000007.14:g.142021646G>A	ExAC,gnomAD
COSM3922862	p.Ala209Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142021652G>C	NCI-TCGA Cosmic
rs1202521230	p.Ala209Thr	missense variant	-	NC_000007.14:g.142021652G>A	TOPMed
rs574112628	p.Ala211Thr	missense variant	-	NC_000007.14:g.142021658G>A	ExAC,TOPMed,gnomAD
rs574112628	p.Ala211Ser	missense variant	-	NC_000007.14:g.142021658G>T	ExAC,TOPMed,gnomAD
COSM3634421	p.Ser212Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142021662C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser212Ala	missense variant	-	NC_000007.14:g.142021661T>G	NCI-TCGA
COSM3778164	p.Leu213Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142021666G>C	NCI-TCGA Cosmic
rs1554458883	p.Thr214Ala	missense variant	-	NC_000007.14:g.142021667A>G	gnomAD
rs1554458891	p.Tyr215Cys	missense variant	-	NC_000007.14:g.142021671A>G	gnomAD
rs1554458889	p.Tyr215Asp	missense variant	-	NC_000007.14:g.142021670T>G	gnomAD
rs1554458899	p.Gln216Arg	missense variant	-	NC_000007.14:g.142021674A>G	gnomAD
rs782757681	p.Gln216Ter	stop gained	-	NC_000007.14:g.142021673C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln216Lys	missense variant	-	NC_000007.14:g.142021673C>A	NCI-TCGA
rs1554458903	p.Val217Ala	missense variant	-	NC_000007.14:g.142021677T>C	gnomAD
rs202247797	p.Glu218Lys	missense variant	-	NC_000007.14:g.142021679G>A	gnomAD
rs376468703	p.Ile219Leu	missense variant	-	NC_000007.14:g.142021682A>C	ESP,ExAC,TOPMed,gnomAD
rs782477644	p.Ile219Thr	missense variant	-	NC_000007.14:g.142021683T>C	ExAC,gnomAD
rs782576547	p.Arg221Gly	missense variant	-	NC_000007.14:g.142021688A>G	ExAC,gnomAD
rs1554458908	p.Gln222Glu	missense variant	-	NC_000007.14:g.142021691C>G	gnomAD
rs782529704	p.Ser225Thr	missense variant	-	NC_000007.14:g.142021701G>C	ExAC,gnomAD
COSM1086391	p.Val228Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142021709G>T	NCI-TCGA Cosmic
rs1554458912	p.Val228Ala	missense variant	-	NC_000007.14:g.142021710T>C	gnomAD
COSM4396354	p.Arg230Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142021716G>A	NCI-TCGA Cosmic
rs370942363	p.Arg231Ser	missense variant	-	NC_000007.14:g.142021720A>C	ESP,ExAC,TOPMed,gnomAD
rs183067128	p.Arg231Ile	missense variant	-	NC_000007.14:g.142021719G>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM452481	p.Asn234Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142021728A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn234Thr	missense variant	-	NC_000007.14:g.142021728A>C	NCI-TCGA
rs375177765	p.Arg235Cys	missense variant	-	NC_000007.14:g.142021730C>T	ESP,ExAC,TOPMed,gnomAD
rs781819632	p.Arg235His	missense variant	-	NC_000007.14:g.142021731G>A	ExAC,TOPMed,gnomAD
rs782790272	p.Val236Ala	missense variant	-	NC_000007.14:g.142021734T>C	ExAC,TOPMed,gnomAD
rs782396595	p.Phe238Leu	missense variant	-	NC_000007.14:g.142022269T>C	ExAC,gnomAD
rs782651416	p.Asp239Gly	missense variant	-	NC_000007.14:g.142022273A>G	ExAC,gnomAD
rs782236312	p.Ser240Leu	missense variant	-	NC_000007.14:g.142022276C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser241Asn	missense variant	-	NC_000007.14:g.142022279G>A	NCI-TCGA
COSM3922870	p.Gly243Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142022284G>T	NCI-TCGA Cosmic
rs1158398826	p.Gly243Glu	missense variant	-	NC_000007.14:g.142022285G>A	TOPMed,gnomAD
rs572139780	p.Pro244Arg	missense variant	-	NC_000007.14:g.142022288C>G	1000Genomes,ExAC,gnomAD
rs572139780	p.Pro244His	missense variant	-	NC_000007.14:g.142022288C>A	1000Genomes,ExAC,gnomAD
rs572139780	p.Pro244Leu	missense variant	-	NC_000007.14:g.142022288C>T	1000Genomes,ExAC,gnomAD
rs374712168	p.Leu246Pro	missense variant	-	NC_000007.14:g.142022294T>C	ESP,ExAC,gnomAD
rs1472287479	p.Phe247Leu	missense variant	-	NC_000007.14:g.142022296T>C	TOPMed
rs368544175	p.Asp249Glu	missense variant	-	NC_000007.14:g.142022304C>G	ESP,ExAC,TOPMed,gnomAD
rs368544175	p.Asp249Glu	missense variant	-	NC_000007.14:g.142022304C>A	ESP,ExAC,TOPMed,gnomAD
rs782014529	p.Gln250His	missense variant	-	NC_000007.14:g.142022307G>C	ExAC,TOPMed,gnomAD
rs1554459207	p.Phe251Leu	missense variant	-	NC_000007.14:g.142022310C>G	gnomAD
rs201266519	p.Ser255Phe	missense variant	-	NC_000007.14:g.142022321C>T	ESP,ExAC,TOPMed,gnomAD
rs782082021	p.Arg257Gln	missense variant	-	NC_000007.14:g.142022327G>A	ExAC,TOPMed,gnomAD
rs781972778	p.Arg257Ter	stop gained	-	NC_000007.14:g.142022326C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro259His	missense variant	-	NC_000007.14:g.142022333C>A	NCI-TCGA
rs376595784	p.Ser260Arg	missense variant	-	NC_000007.14:g.142022337C>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly265Asp	missense variant	-	NC_000007.14:g.142022351G>A	NCI-TCGA
COSM745315	p.Gly267Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.142022356G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly267Arg	missense variant	-	NC_000007.14:g.142022356G>A	NCI-TCGA
rs1223926013	p.Glu268Lys	missense variant	-	NC_000007.14:g.142022359G>A	TOPMed
rs782801521	p.His269Gln	missense variant	-	NC_000007.14:g.142022364T>A	ExAC,gnomAD
rs951729956	p.His269Tyr	missense variant	-	NC_000007.14:g.142022362C>T	gnomAD
rs782505210	p.Val270Ala	missense variant	-	NC_000007.14:g.142022366T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln272Leu	missense variant	-	NC_000007.14:g.142022372A>T	NCI-TCGA
rs782606103	p.Gln273His	missense variant	-	NC_000007.14:g.142022376G>T	ExAC,gnomAD
NCI-TCGA novel	p.Tyr274Cys	missense variant	-	NC_000007.14:g.142022378A>G	NCI-TCGA
rs1272804758	p.Arg275Pro	missense variant	-	NC_000007.14:g.142022381G>C	TOPMed,gnomAD
rs372197743	p.Arg275Trp	missense variant	-	NC_000007.14:g.142022380C>T	ESP,ExAC,TOPMed,gnomAD
rs1272804758	p.Arg275Gln	missense variant	-	NC_000007.14:g.142022381G>A	TOPMed,gnomAD
rs782295291	p.Asp277His	missense variant	-	NC_000007.14:g.142022386G>C	ExAC,TOPMed,gnomAD
rs782295291	p.Asp277Asn	missense variant	-	NC_000007.14:g.142022386G>A	ExAC,TOPMed,gnomAD
rs782295291	p.Asp277Tyr	missense variant	-	NC_000007.14:g.142022386G>T	ExAC,TOPMed,gnomAD
rs1319801669	p.Met278Val	missense variant	-	NC_000007.14:g.142022389A>G	TOPMed
rs782284375	p.MetAsnTrp278MetAsnTerIleUnk	stop gained	-	NC_000007.14:g.142022396_142022397insAATTG	ExAC,gnomAD
rs369129473	p.Asn279Asp	missense variant	-	NC_000007.14:g.142022392A>G	ESP,TOPMed,gnomAD
COSM71634	p.Lys281Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142022399A>G	NCI-TCGA Cosmic
rs782405255	p.Lys281Glu	missense variant	-	NC_000007.14:g.142022398A>G	ExAC,gnomAD
rs782225856	p.Trp283Cys	missense variant	-	NC_000007.14:g.142022406G>C	ExAC,TOPMed,gnomAD
rs781988256	p.Trp283Arg	missense variant	-	NC_000007.14:g.142022404T>C	ExAC,gnomAD
rs782225856	p.Trp283Ter	stop gained	-	NC_000007.14:g.142022406G>A	ExAC,TOPMed,gnomAD
rs782344799	p.Pro284Leu	missense variant	-	NC_000007.14:g.142022408C>T	ExAC,gnomAD
rs868934815	p.Pro284Thr	missense variant	-	NC_000007.14:g.142022407C>A	TOPMed,gnomAD
rs1419844317	p.Ile285Val	missense variant	-	NC_000007.14:g.142022410A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ile285Thr	missense variant	-	NC_000007.14:g.142022411T>C	NCI-TCGA
COSM3634441	p.Arg288Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142022420G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp289Tyr	missense variant	-	NC_000007.14:g.142022422G>T	NCI-TCGA
rs1192034431	p.Thr290Ala	missense variant	-	NC_000007.14:g.142022425A>G	TOPMed
rs782056080	p.Thr290Lys	missense variant	-	NC_000007.14:g.142022426C>A	ExAC,TOPMed,gnomAD
rs782056080	p.Thr290Ile	missense variant	-	NC_000007.14:g.142022426C>T	ExAC,TOPMed,gnomAD
rs1554459275	p.Thr291Pro	missense variant	-	NC_000007.14:g.142022428A>C	gnomAD
rs1554459281	p.Pro292Leu	missense variant	-	NC_000007.14:g.142022432C>T	gnomAD
rs782126641	p.Asn293Ser	missense variant	-	NC_000007.14:g.142022435A>G	ExAC,gnomAD
COSM4394371	p.Gly294Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142022437G>A	NCI-TCGA Cosmic
COSM3634445	p.Asn295Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142025051A>G	NCI-TCGA Cosmic
rs782337159	p.Asn295His	missense variant	-	NC_000007.14:g.142025050A>C	ExAC,TOPMed,gnomAD
rs571907096	p.Gly296Glu	missense variant	-	NC_000007.14:g.142025054G>A	1000Genomes,ExAC,gnomAD
rs1554460346	p.Gly296Arg	missense variant	-	NC_000007.14:g.142025053G>A	gnomAD
rs1554460351	p.Asn298Asp	missense variant	-	NC_000007.14:g.142025059A>G	gnomAD
rs1554460359	p.Leu299Val	missense variant	-	NC_000007.14:g.142025062T>G	gnomAD
rs1172867548	p.Leu299Trp	missense variant	-	NC_000007.14:g.142025063T>G	TOPMed
rs186400912	p.Tyr300Cys	missense variant	-	NC_000007.14:g.142025066A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1554460367	p.Tyr300His	missense variant	-	NC_000007.14:g.142025065T>C	gnomAD
rs186400912	p.Tyr300Phe	missense variant	-	NC_000007.14:g.142025066A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1375954722	p.Gly301Ser	missense variant	-	NC_000007.14:g.142025068G>A	TOPMed,gnomAD
rs201997667	p.Ala302Val	missense variant	-	NC_000007.14:g.142025072C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201997667	p.Ala302Glu	missense variant	-	NC_000007.14:g.142025072C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1554460378	p.Gln303Ter	stop gained	-	NC_000007.14:g.142025074C>T	gnomAD
rs1554460380	p.Gln303Pro	missense variant	-	NC_000007.14:g.142025075A>C	gnomAD
NCI-TCGA novel	p.Thr304Ile	missense variant	-	NC_000007.14:g.142025078C>T	NCI-TCGA
rs781906055	p.Phe305Leu	missense variant	-	NC_000007.14:g.142025082C>G	ExAC,TOPMed,gnomAD
rs373438553	p.Phe305Cys	missense variant	-	NC_000007.14:g.142025081T>G	ESP,ExAC,TOPMed,gnomAD
rs781906055	p.Phe305Leu	missense variant	-	NC_000007.14:g.142025082C>A	ExAC,TOPMed,gnomAD
rs1489436365	p.Phe306Leu	missense variant	-	NC_000007.14:g.142025083T>C	TOPMed
rs1200335769	p.Leu307Phe	missense variant	-	NC_000007.14:g.142025088G>T	TOPMed,gnomAD
rs1554460388	p.Cys308Ser	missense variant	-	NC_000007.14:g.142025090G>C	gnomAD
NCI-TCGA novel	p.Glu310Ter	stop gained	-	NC_000007.14:g.142025095G>T	NCI-TCGA
NCI-TCGA novel	p.Asp311Tyr	missense variant	-	NC_000007.14:g.142025098G>T	NCI-TCGA
COSM1086401	p.Ser313Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142025105G>T	NCI-TCGA Cosmic
rs782355667	p.Ser313Gly	missense variant	-	NC_000007.14:g.142025104A>G	ExAC,gnomAD
rs782304559	p.Gly318Arg	missense variant	-	NC_000007.14:g.142025119G>A	ExAC,gnomAD
rs782031017	p.Phe320Leu	missense variant	-	NC_000007.14:g.142025125T>C	ExAC,gnomAD
rs370542172	p.Met322Lys	missense variant	-	NC_000007.14:g.142025132T>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Met322Ile	missense variant	-	NC_000007.14:g.142025133G>A	NCI-TCGA
rs527339185	p.Asn323Ser	missense variant	-	NC_000007.14:g.142025135A>G	ExAC,gnomAD
rs781898633	p.Ser324Asn	missense variant	-	NC_000007.14:g.142025138G>A	ExAC,gnomAD
rs942682815	p.Ser324Arg	missense variant	-	NC_000007.14:g.142025139C>A	gnomAD
rs782718423	p.Asn325Asp	missense variant	-	NC_000007.14:g.142025140A>G	ExAC,TOPMed,gnomAD
rs782718423	p.Asn325His	missense variant	-	NC_000007.14:g.142025140A>C	ExAC,TOPMed,gnomAD
rs1401471656	p.Met327Ile	missense variant	-	NC_000007.14:g.142025148G>A	TOPMed
rs548853167	p.Met327Val	missense variant	-	NC_000007.14:g.142025146A>G	ExAC,TOPMed,gnomAD
rs781786759	p.Glu328Asp	missense variant	-	NC_000007.14:g.142027116G>T	ExAC,gnomAD
rs1195346222	p.Val330Leu	missense variant	-	NC_000007.14:g.142027120G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Val330Phe	missense variant	-	NC_000007.14:g.142027120G>T	NCI-TCGA
NCI-TCGA novel	p.Leu331Ile	missense variant	-	NC_000007.14:g.142027123C>A	NCI-TCGA
COSM6176402	p.Ala334Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142027132G>T	NCI-TCGA Cosmic
rs782549716	p.Ala334Val	missense variant	-	NC_000007.14:g.142027133C>T	ExAC,TOPMed,gnomAD
rs1554461185	p.Pro335Ser	missense variant	-	NC_000007.14:g.142027135C>T	gnomAD
rs1554461188	p.Ile337Val	missense variant	-	NC_000007.14:g.142027141A>G	gnomAD
rs782495044	p.Thr338Pro	missense variant	-	NC_000007.14:g.142027144A>C	ExAC,gnomAD
rs782495044	p.Thr338Ser	missense variant	-	NC_000007.14:g.142027144A>T	ExAC,gnomAD
rs1359191634	p.Thr338Ile	missense variant	-	NC_000007.14:g.142027145C>T	TOPMed,gnomAD
rs1554461201	p.Tyr339His	missense variant	-	NC_000007.14:g.142027147T>C	gnomAD
rs199961575	p.Arg340Gly	missense variant	-	NC_000007.14:g.142027150C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs782451986	p.Arg340His	missense variant	-	NC_000007.14:g.142027151G>A	ExAC,gnomAD
rs199961575	p.Arg340Cys	missense variant	-	NC_000007.14:g.142027150C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200058369	p.Ile342Ser	missense variant	-	NC_000007.14:g.142027157T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200058369	p.Ile342Asn	missense variant	-	NC_000007.14:g.142027157T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200058369	p.Ile342Thr	missense variant	-	NC_000007.14:g.142027157T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs782234699	p.Gly344Ser	missense variant	-	NC_000007.14:g.142027162G>A	ExAC,gnomAD
rs782330482	p.Ile345Val	missense variant	-	NC_000007.14:g.142027165A>G	ExAC,gnomAD
rs1554461237	p.Asp347Asn	missense variant	-	NC_000007.14:g.142027171G>A	gnomAD
NCI-TCGA novel	p.Asp347His	missense variant	-	NC_000007.14:g.142027171G>C	NCI-TCGA
rs1042240078	p.Phe348Ser	missense variant	-	NC_000007.14:g.142027175T>C	TOPMed
rs782041510	p.Tyr349Cys	missense variant	-	NC_000007.14:g.142027178A>G	ExAC,TOPMed,gnomAD
rs782809881	p.Val350Met	missense variant	-	NC_000007.14:g.142027180G>A	ExAC,gnomAD
rs1379655096	p.Leu352Ter	stop gained	-	NC_000007.14:g.142027187T>A	TOPMed
COSM229079	p.Gly353Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142027190G>A	NCI-TCGA Cosmic
rs1181164759	p.Thr355Ala	missense variant	-	NC_000007.14:g.142027195A>G	TOPMed,gnomAD
rs1181164759	p.Thr355Ser	missense variant	-	NC_000007.14:g.142027195A>T	TOPMed,gnomAD
rs1554461260	p.Glu357Gly	missense variant	-	NC_000007.14:g.142027202A>G	gnomAD
rs372045141	p.Gln358Ter	stop gained	-	NC_000007.14:g.142027204C>T	ESP,ExAC,TOPMed,gnomAD
rs372045141	p.Gln358Glu	missense variant	-	NC_000007.14:g.142027204C>G	ESP,ExAC,TOPMed,gnomAD
rs1554461267	p.Gln361Lys	missense variant	-	NC_000007.14:g.142027213C>A	gnomAD
rs782691640	p.Glu362Asp	missense variant	-	NC_000007.14:g.142027218A>C	ExAC,gnomAD
rs781905880	p.Tyr363Cys	missense variant	-	NC_000007.14:g.142027220A>G	ExAC,gnomAD
COSM6108869	p.Glu365Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.142027225G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu365Asp	missense variant	-	NC_000007.14:g.142027227G>T	NCI-TCGA
rs1415283659	p.Ile367Thr	missense variant	-	NC_000007.14:g.142027614T>C	TOPMed
rs1554461418	p.Gly368Arg	missense variant	-	NC_000007.14:g.142027616G>C	gnomAD
rs368035457	p.Arg369Gln	missense variant	-	NC_000007.14:g.142027620G>A	ESP,ExAC,TOPMed,gnomAD
rs781873643	p.Arg369Trp	missense variant	-	NC_000007.14:g.142027619C>T	ExAC,TOPMed,gnomAD
rs781833668	p.Ala371Thr	missense variant	-	NC_000007.14:g.142027625G>A	ExAC,TOPMed,gnomAD
COSM3634456	p.Leu372Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142027628C>T	NCI-TCGA Cosmic
rs1554461429	p.Ser374Pro	missense variant	-	NC_000007.14:g.142027634T>C	gnomAD
COSM6108866	p.Tyr375Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142027637T>A	NCI-TCGA Cosmic
rs1244466223	p.Tyr375Cys	missense variant	-	NC_000007.14:g.142027638A>G	TOPMed
rs1554461435	p.Trp376Arg	missense variant	-	NC_000007.14:g.142027640T>A	gnomAD
rs189324698	p.Ala377Val	missense variant	-	NC_000007.14:g.142027644C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs782524066	p.Ala377Thr	missense variant	-	NC_000007.14:g.142027643G>A	ExAC,gnomAD
COSM745309	p.Leu378Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142027646C>T	NCI-TCGA Cosmic
COSM4844808	p.Gly379Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142027650G>C	NCI-TCGA Cosmic
rs191269779	p.Gly379Glu	missense variant	-	NC_000007.14:g.142027650G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs558293494	p.Gly379Arg	missense variant	-	NC_000007.14:g.142027649G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs782565745	p.His381Tyr	missense variant	-	NC_000007.14:g.142027655C>T	ExAC,TOPMed,gnomAD
rs782183146	p.His381Arg	missense variant	-	NC_000007.14:g.142027656A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu382Phe	missense variant	-	NC_000007.14:g.142027658C>T	NCI-TCGA
rs374006036	p.Ser383Ile	missense variant	-	NC_000007.14:g.142027662G>T	ESP,TOPMed
rs537674844	p.Arg384His	missense variant	-	NC_000007.14:g.142027665G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1243727908	p.Arg384Cys	missense variant	-	NC_000007.14:g.142027664C>T	TOPMed,gnomAD
rs373200528	p.Glu386Lys	missense variant	-	NC_000007.14:g.142027670G>A	ESP,ExAC,TOPMed,gnomAD
rs1335380765	p.Gly388Arg	missense variant	-	NC_000007.14:g.142027676G>A	TOPMed
rs781964893	p.Thr389Ile	missense variant	-	NC_000007.14:g.142027680C>T	ExAC,TOPMed,gnomAD
rs781964893	p.Thr389Asn	missense variant	-	NC_000007.14:g.142027680C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr389Ser	missense variant	-	NC_000007.14:g.142027679A>T	NCI-TCGA
rs184092742	p.Asp391Asn	missense variant	-	NC_000007.14:g.142027685G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766107711	p.Asp391Glu	missense variant	-	NC_000007.14:g.142027687C>A	ExAC,TOPMed,gnomAD
rs781929078	p.Asn392Asp	missense variant	-	NC_000007.14:g.142027688A>G	ExAC,TOPMed,gnomAD
rs200834950	p.Asn392Ser	missense variant	-	NC_000007.14:g.142027689A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs782811856	p.Met393Thr	missense variant	-	NC_000007.14:g.142027692T>C	ExAC,gnomAD
rs371920898	p.Glu395Lys	missense variant	-	NC_000007.14:g.142027697G>A	ESP,ExAC,TOPMed,gnomAD
rs1554461524	p.Val396Ile	missense variant	-	NC_000007.14:g.142027700G>A	gnomAD
rs377442966	p.Val397Met	missense variant	-	NC_000007.14:g.142027703G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu398Asp	missense variant	-	NC_000007.14:g.142027708G>C	NCI-TCGA
rs188481752	p.Arg401Gly	missense variant	-	NC_000007.14:g.142027715C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs188481752	p.Arg401Cys	missense variant	-	NC_000007.14:g.142027715C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs188481752	p.Arg401Ser	missense variant	-	NC_000007.14:g.142027715C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs782279108	p.Arg401His	missense variant	-	NC_000007.14:g.142027716G>A	ExAC,gnomAD
rs374307676	p.Ala402Gly	missense variant	-	NC_000007.14:g.142027719C>G	ESP,ExAC,gnomAD
rs371373847	p.Ala402Thr	missense variant	-	NC_000007.14:g.142027718G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala403Ser	missense variant	-	NC_000007.14:g.142027721G>T	NCI-TCGA
rs781930552	p.Gln404Pro	missense variant	-	NC_000007.14:g.142027725A>C	ExAC,gnomAD
rs2272330	p.Gln404His	missense variant	-	NC_000007.14:g.142027726G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs782335062	p.Gln404Ter	stop gained	-	NC_000007.14:g.142027724C>T	ExAC,gnomAD
rs1277960803	p.Leu405Phe	missense variant	-	NC_000007.14:g.142027727C>T	TOPMed
rs782427144	p.Leu405Pro	missense variant	-	NC_000007.14:g.142027728T>C	ExAC
rs1351388067	p.Tyr407Phe	missense variant	-	NC_000007.14:g.142027734A>T	TOPMed
rs782139481	p.Tyr407His	missense variant	-	NC_000007.14:g.142027733T>C	ExAC,TOPMed,gnomAD
rs782139481	p.Tyr407Asn	missense variant	-	NC_000007.14:g.142027733T>A	ExAC,TOPMed,gnomAD
COSM6176399	p.Val409Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142030365G>A	NCI-TCGA Cosmic
COSM6108863	p.Gln410His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142030370G>T	NCI-TCGA Cosmic
COSM3634462	p.Ala412Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142030375C>T	NCI-TCGA Cosmic
rs1554462850	p.Asp413Gly	missense variant	-	NC_000007.14:g.142030378A>G	gnomAD
rs1554462854	p.Tyr416Cys	missense variant	-	NC_000007.14:g.142030387A>G	gnomAD
rs782161428	p.Met417Ile	missense variant	-	NC_000007.14:g.142030391G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp418Asn	missense variant	-	NC_000007.14:g.142030392G>A	NCI-TCGA
COSM1086422	p.Glu419Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142030397G>T	NCI-TCGA Cosmic
rs567166329	p.Glu419Lys	missense variant	-	NC_000007.14:g.142030395G>A	1000Genomes,ExAC,gnomAD
COSM5406730	p.Arg420Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142030399G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg420Ile	missense variant	-	NC_000007.14:g.142030399G>T	NCI-TCGA
rs374898168	p.Arg421Lys	missense variant	-	NC_000007.14:g.142030402G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg421Met	missense variant	-	NC_000007.14:g.142030402G>T	NCI-TCGA
rs782114142	p.Asp422Gly	missense variant	-	NC_000007.14:g.142030405A>G	ExAC,gnomAD
rs781818371	p.Phe423Ser	missense variant	-	NC_000007.14:g.142030408T>C	ExAC,gnomAD
rs782056253	p.Asp426Asn	missense variant	-	NC_000007.14:g.142030416G>A	ExAC,TOPMed,gnomAD
rs782698679	p.Ser427Pro	missense variant	-	NC_000007.14:g.142030419T>C	ExAC,gnomAD
rs781908862	p.Asp429Asn	missense variant	-	NC_000007.14:g.142030425G>A	ExAC,gnomAD
COSM1086426	p.Phe430Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142030429T>G	NCI-TCGA Cosmic
rs1371928155	p.Gly432Ala	missense variant	-	NC_000007.14:g.142030435G>C	TOPMed
COSM3634465	p.Phe433Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142030437T>C	NCI-TCGA Cosmic
COSM3634468	p.Glu435Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142030443G>A	NCI-TCGA Cosmic
rs1554462907	p.Glu435Gly	missense variant	-	NC_000007.14:g.142030444A>G	gnomAD
rs1320168257	p.Phe436Ile	missense variant	-	NC_000007.14:g.142030446T>A	TOPMed,gnomAD
rs1554462911	p.Asn438Ser	missense variant	-	NC_000007.14:g.142030453A>G	gnomAD
rs782491222	p.Glu439Gln	missense variant	-	NC_000007.14:g.142030455G>C	ExAC,TOPMed,gnomAD
rs782491222	p.Glu439Lys	missense variant	-	NC_000007.14:g.142030455G>A	ExAC,TOPMed,gnomAD
rs782605775	p.Leu440Ter	stop gained	-	NC_000007.14:g.142030459T>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu440Val	missense variant	-	NC_000007.14:g.142030458T>G	NCI-TCGA
NCI-TCGA novel	p.His441Arg	missense variant	-	NC_000007.14:g.142030462A>G	NCI-TCGA
rs782196345	p.Asn442Asp	missense variant	-	NC_000007.14:g.142030464A>G	ExAC,TOPMed,gnomAD
rs782308686	p.Asn442Ile	missense variant	-	NC_000007.14:g.142030465A>T	ExAC,gnomAD
rs782308686	p.Asn442Ser	missense variant	-	NC_000007.14:g.142030465A>G	ExAC,gnomAD
rs1554462921	p.Asn443Ser	missense variant	-	NC_000007.14:g.142030468A>G	gnomAD
rs1465965759	p.Gly444Glu	missense variant	-	NC_000007.14:g.142030471G>A	TOPMed
rs782674701	p.Gln445Lys	missense variant	-	NC_000007.14:g.142030473C>A	ExAC,gnomAD
rs142037158	p.Leu447Val	missense variant	-	NC_000007.14:g.142030479C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs782372862	p.Ile450Thr	missense variant	-	NC_000007.14:g.142030489T>C	ExAC,TOPMed,gnomAD
rs782310137	p.Ile450Val	missense variant	-	NC_000007.14:g.142030488A>G	gnomAD
rs782310137	p.Ile450Leu	missense variant	-	NC_000007.14:g.142030488A>C	gnomAD
rs782223084	p.Asp452Asn	missense variant	-	NC_000007.14:g.142030641G>A	ExAC,gnomAD
COSM3634474	p.Pro453Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142030644C>T	NCI-TCGA Cosmic
rs1373296368	p.Ala454Val	missense variant	-	NC_000007.14:g.142030648C>T	TOPMed
rs1421859270	p.Ile455Thr	missense variant	-	NC_000007.14:g.142030651T>C	TOPMed,gnomAD
rs1421859270	p.Ile455Ser	missense variant	-	NC_000007.14:g.142030651T>G	TOPMed,gnomAD
rs782341305	p.Ile455Val	missense variant	-	NC_000007.14:g.142030650A>G	ExAC,TOPMed,gnomAD
rs1554463087	p.Asn457Asp	missense variant	-	NC_000007.14:g.142030656A>G	gnomAD
rs782579825	p.Asn457Lys	missense variant	-	NC_000007.14:g.142030658C>G	ExAC,gnomAD
rs1554463105	p.Asn458Ser	missense variant	-	NC_000007.14:g.142030660A>G	gnomAD
rs1554463099	p.Asn458Asp	missense variant	-	NC_000007.14:g.142030659A>G	gnomAD
rs782416042	p.Ser459Thr	missense variant	-	NC_000007.14:g.142030662T>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser459Cys	missense variant	-	NC_000007.14:g.142030663C>G	NCI-TCGA
rs1259477124	p.Ser460Pro	missense variant	-	NC_000007.14:g.142030665T>C	TOPMed
NCI-TCGA novel	p.Ser460Phe	missense variant	-	NC_000007.14:g.142030666C>T	NCI-TCGA
rs76276410	p.Ser462Gly	missense variant	-	NC_000007.14:g.142030671A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs782265176	p.Pro464Thr	missense variant	-	NC_000007.14:g.142030677C>A	ExAC,TOPMed,gnomAD
rs781972911	p.Pro467Leu	missense variant	-	NC_000007.14:g.142030687C>T	ExAC,gnomAD
rs782088246	p.Tyr468Cys	missense variant	-	NC_000007.14:g.142030690A>G	ExAC,gnomAD
COSM3634477	p.Asp469Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142030692G>A	NCI-TCGA Cosmic
COSM4397861	p.Arg470Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142030696G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg470Met	missense variant	-	NC_000007.14:g.142030696G>T	NCI-TCGA
rs377157038	p.Gly471Ser	missense variant	-	NC_000007.14:g.142030698G>A	ESP,ExAC,TOPMed,gnomAD
rs781922241	p.Ser472Ter	stop gained	-	NC_000007.14:g.142030702C>G	ExAC,TOPMed,gnomAD
rs1252121294	p.Met474Val	missense variant	-	NC_000007.14:g.142030707A>G	TOPMed
NCI-TCGA novel	p.Met474Thr	missense variant	-	NC_000007.14:g.142030708T>C	NCI-TCGA
NCI-TCGA novel	p.Met474Ile	missense variant	-	NC_000007.14:g.142030709G>A	NCI-TCGA
NCI-TCGA novel	p.Lys475Glu	missense variant	-	NC_000007.14:g.142030710A>G	NCI-TCGA
NCI-TCGA novel	p.Lys475Asn	missense variant	-	NC_000007.14:g.142030712G>T	NCI-TCGA
rs1554463180	p.Ile476Thr	missense variant	-	NC_000007.14:g.142030714T>C	gnomAD
rs1554463186	p.Trp477Arg	missense variant	-	NC_000007.14:g.142030716T>C	gnomAD
rs1554463195	p.Val478Met	missense variant	-	NC_000007.14:g.142030719G>A	gnomAD
rs782167847	p.Ser480Asn	missense variant	-	NC_000007.14:g.142030726G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser481Ter	stop gained	-	NC_000007.14:g.142030729C>G	NCI-TCGA
rs782768330	p.Asp482Asn	missense variant	-	NC_000007.14:g.142030731G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp482Glu	missense variant	-	NC_000007.14:g.142030733T>A	NCI-TCGA
rs545222714	p.Pro486Leu	missense variant	-	NC_000007.14:g.142030744C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1554463224	p.Ile488Phe	missense variant	-	NC_000007.14:g.142030749A>T	gnomAD
rs1295542195	p.Ile488Thr	missense variant	-	NC_000007.14:g.142030750T>C	TOPMed
COSM6176393	p.Gly489Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142030753G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly489Glu	missense variant	-	NC_000007.14:g.142030753G>A	NCI-TCGA
NCI-TCGA novel	p.Gly489Arg	missense variant	-	NC_000007.14:g.142030752G>A	NCI-TCGA
rs781896542	p.Val491Ile	missense variant	-	NC_000007.14:g.142031680G>A	ExAC,TOPMed,gnomAD
rs781896542	p.Val491Phe	missense variant	-	NC_000007.14:g.142031680G>T	ExAC,TOPMed,gnomAD
rs1554463815	p.Pro493His	missense variant	-	NC_000007.14:g.142031687C>A	gnomAD
rs1554463821	p.Gly494Arg	missense variant	-	NC_000007.14:g.142031689G>A	gnomAD
NCI-TCGA novel	p.Gly494Glu	missense variant	-	NC_000007.14:g.142031690G>A	NCI-TCGA
rs782531198	p.Thr496Ile	missense variant	-	NC_000007.14:g.142031696C>T	ExAC
rs781863603	p.Val497Ala	missense variant	-	NC_000007.14:g.142031699T>C	ExAC,TOPMed,gnomAD
COSM3634483	p.Pro499Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142031704C>T	NCI-TCGA Cosmic
rs782494225	p.Pro499Ala	missense variant	-	NC_000007.14:g.142031704C>G	ExAC,TOPMed,gnomAD
COSM4936328	p.Asp500Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142031707G>T	NCI-TCGA Cosmic
rs782615480	p.Tyr501Cys	missense variant	-	NC_000007.14:g.142031711A>G	ExAC,TOPMed,gnomAD
rs782194727	p.Thr502Asn	missense variant	-	NC_000007.14:g.142031714C>A	ExAC,TOPMed,gnomAD
COSM3634486	p.Pro504Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142031719C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro504His	missense variant	-	NC_000007.14:g.142031720C>A	NCI-TCGA
rs552591544	p.Asn505Ser	missense variant	-	NC_000007.14:g.142031723A>G	1000Genomes,ExAC,gnomAD
rs782280924	p.Ala507Thr	missense variant	-	NC_000007.14:g.142031728G>A	ExAC,TOPMed,gnomAD
rs1190098845	p.Trp510Cys	missense variant	-	NC_000007.14:g.142031739G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Trp510Ter	stop gained	-	NC_000007.14:g.142031738G>A	NCI-TCGA
NCI-TCGA novel	p.Trp510Ter	stop gained	-	NC_000007.14:g.142031739G>A	NCI-TCGA
rs1554463862	p.Glu513Asp	missense variant	-	NC_000007.14:g.142031748A>C	gnomAD
rs782373494	p.Glu513Lys	missense variant	-	NC_000007.14:g.142031746G>A	ExAC,gnomAD
rs1249964085	p.Glu513Gly	missense variant	-	NC_000007.14:g.142031747A>G	TOPMed
COSM1086432	p.Phe514Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142031751T>G	NCI-TCGA Cosmic
rs782618035	p.Phe514Cys	missense variant	-	NC_000007.14:g.142031750T>G	ExAC,gnomAD
COSM3778172	p.Glu515Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142031752G>C	NCI-TCGA Cosmic
rs570887648	p.Asn519Ser	missense variant	-	NC_000007.14:g.142031765A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1194279154	p.Asn519His	missense variant	-	NC_000007.14:g.142031764A>C	TOPMed
COSM86798	p.Gln520Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142031768A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln520Lys	missense variant	-	NC_000007.14:g.142031767C>A	NCI-TCGA
rs1554463881	p.Glu522Lys	missense variant	-	NC_000007.14:g.142031773G>A	-
rs1259100240	p.Asp524Gly	missense variant	-	NC_000007.14:g.142031780A>G	TOPMed
rs1233061883	p.Gly525Glu	missense variant	-	NC_000007.14:g.142031783G>A	TOPMed
rs782319867	p.Ile526Val	missense variant	-	NC_000007.14:g.142031785A>G	ExAC,gnomAD
rs1554463889	p.Trp527Gly	missense variant	-	NC_000007.14:g.142031788T>G	gnomAD
NCI-TCGA novel	p.Trp527Ter	stop gained	-	NC_000007.14:g.142031790G>A	NCI-TCGA
rs1333251993	p.Ile528Thr	missense variant	-	NC_000007.14:g.142031792T>C	TOPMed
rs1554464296	p.Asp529Val	missense variant	-	NC_000007.14:g.142032826A>T	gnomAD
rs200532183	p.Asp529Glu	missense variant	-	NC_000007.14:g.142032827T>G	ESP,ExAC,TOPMed,gnomAD
COSM4901585	p.Met530Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142032830G>A	NCI-TCGA Cosmic
rs781979872	p.Glu532Lys	missense variant	-	NC_000007.14:g.142032834G>A	ExAC,TOPMed,gnomAD
rs781979872	p.Glu532Ter	stop gained	-	NC_000007.14:g.142032834G>T	ExAC,TOPMed,gnomAD
COSM3634498	p.Ser534Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142032841C>T	NCI-TCGA Cosmic
rs1554464305	p.Ser534Cys	missense variant	-	NC_000007.14:g.142032841C>G	gnomAD
rs549897232	p.Asn535Thr	missense variant	-	NC_000007.14:g.142032844A>C	1000Genomes,ExAC,gnomAD
rs376876129	p.Asp538Val	missense variant	-	NC_000007.14:g.142032853A>T	ESP,ExAC,TOPMed,gnomAD
rs201161396	p.Ser540Leu	missense variant	-	NC_000007.14:g.142032859C>T	ESP,ExAC,TOPMed,gnomAD
rs10266732	p.Ser542Leu	missense variant	-	NC_000007.14:g.142032865C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs10266732	p.Ser542Leu	missense variant	-	NC_000007.14:g.142032865C>T	UniProt,dbSNP
VAR_047351	p.Ser542Leu	missense variant	-	NC_000007.14:g.142032865C>T	UniProt
rs1554464323	p.Asn547Asp	missense variant	-	NC_000007.14:g.142032879A>G	gnomAD
rs1306671169	p.Asn547Lys	missense variant	-	NC_000007.14:g.142032881C>G	TOPMed,gnomAD
rs782433642	p.Asn547Ser	missense variant	-	NC_000007.14:g.142032880A>G	ExAC,gnomAD
rs1554464332	p.Asn548Tyr	missense variant	-	NC_000007.14:g.142032882A>T	gnomAD
rs782679232	p.Pro553Leu	missense variant	-	NC_000007.14:g.142032898C>T	ExAC,TOPMed,gnomAD
rs1325048739	p.Phe554Val	missense variant	-	NC_000007.14:g.142032900T>G	TOPMed
NCI-TCGA novel	p.Phe554IlePheSerTerUnkUnk	frameshift	-	NC_000007.14:g.142032893_142032894insC	NCI-TCGA
rs1554464344	p.Thr555Ser	missense variant	-	NC_000007.14:g.142032904C>G	gnomAD
rs1554464350	p.Pro556His	missense variant	-	NC_000007.14:g.142032907C>A	gnomAD
rs1554464349	p.Pro556Ser	missense variant	-	NC_000007.14:g.142032906C>T	gnomAD
NCI-TCGA novel	p.Arg557Lys	missense variant	-	NC_000007.14:g.142034262G>A	NCI-TCGA
rs1554464937	p.Leu559Pro	missense variant	-	NC_000007.14:g.142034268T>C	gnomAD
rs535382832	p.Asp560Asn	missense variant	-	NC_000007.14:g.142034270G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs782145896	p.Tyr562Asn	missense variant	-	NC_000007.14:g.142034276T>A	ExAC,gnomAD
rs782772053	p.Cys565Tyr	missense variant	-	NC_000007.14:g.142034286G>A	ExAC,gnomAD
rs1554464939	p.Cys565Ter	stop gained	-	NC_000007.14:g.142034287C>A	gnomAD
rs1218334885	p.Lys566Thr	missense variant	-	NC_000007.14:g.142034289A>C	TOPMed,gnomAD
rs782503061	p.Leu568Pro	missense variant	-	NC_000007.14:g.142034295T>C	ExAC,TOPMed,gnomAD
rs782167135	p.Leu568Val	missense variant	-	NC_000007.14:g.142034294C>G	ExAC,TOPMed,gnomAD
rs782729423	p.Cys569Tyr	missense variant	-	NC_000007.14:g.142034298G>A	ExAC,gnomAD
rs1554464956	p.Met570Arg	missense variant	-	NC_000007.14:g.142034301T>G	gnomAD
rs1554464957	p.Asp571Gly	missense variant	-	NC_000007.14:g.142034304A>G	gnomAD
rs781808897	p.Ala572Thr	missense variant	-	NC_000007.14:g.142034306G>A	ExAC,gnomAD
rs553850162	p.His575Pro	missense variant	-	NC_000007.14:g.142034316A>C	1000Genomes,ExAC,gnomAD
rs553850162	p.His575Arg	missense variant	-	NC_000007.14:g.142034316A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.His575Asn	missense variant	-	NC_000007.14:g.142034315C>A	NCI-TCGA
rs782684588	p.Trp576Ter	stop gained	-	NC_000007.14:g.142034320G>A	ExAC,TOPMed,gnomAD
rs1263650229	p.Gly577Cys	missense variant	-	NC_000007.14:g.142034321G>T	TOPMed,gnomAD
rs368127800	p.Gln579Glu	missense variant	-	NC_000007.14:g.142034327C>G	ESP,ExAC,TOPMed,gnomAD
rs902260519	p.Gln579His	missense variant	-	NC_000007.14:g.142034329G>C	gnomAD
rs368127800	p.Gln579Lys	missense variant	-	NC_000007.14:g.142034327C>A	ESP,ExAC,TOPMed,gnomAD
rs1339922914	p.Asp581Gly	missense variant	-	NC_000007.14:g.142034334A>G	TOPMed
rs1554464971	p.Asp581Asn	missense variant	-	NC_000007.14:g.142034333G>A	gnomAD
rs572766702	p.Ile582Val	missense variant	-	NC_000007.14:g.142034336A>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM4939100	p.His583Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142034340A>C	NCI-TCGA Cosmic
COSM1448697	p.Asn584Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142034343A>T	NCI-TCGA Cosmic
rs1554464979	p.Leu585Met	missense variant	-	NC_000007.14:g.142034345C>A	gnomAD
rs1554464981	p.Tyr586Cys	missense variant	-	NC_000007.14:g.142034349A>G	gnomAD
rs782205661	p.Gly587Asp	missense variant	-	NC_000007.14:g.142034352G>A	ExAC,TOPMed,gnomAD
rs1333868241	p.Ser589Phe	missense variant	-	NC_000007.14:g.142034358C>T	TOPMed,gnomAD
rs782322543	p.Met590Val	missense variant	-	NC_000007.14:g.142034360A>G	ExAC,gnomAD
rs371945184	p.Ala591Val	missense variant	-	NC_000007.14:g.142034364C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val592Ile	missense variant	-	NC_000007.14:g.142034366G>A	NCI-TCGA
rs183598889	p.Ala593Thr	missense variant	-	NC_000007.14:g.142034369G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs543667858	p.Ala595Thr	missense variant	-	NC_000007.14:g.142034375G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs868919559	p.Ala597Val	missense variant	-	NC_000007.14:g.142034672C>T	gnomAD
rs1554465113	p.Ala597Ser	missense variant	-	NC_000007.14:g.142034671G>T	gnomAD
rs782330752	p.Lys599Glu	missense variant	-	NC_000007.14:g.142034677A>G	ExAC,gnomAD
rs1426103510	p.Lys599Arg	missense variant	-	NC_000007.14:g.142034678A>G	TOPMed,gnomAD
rs1554465123	p.Phe602Leu	missense variant	-	NC_000007.14:g.142034688C>G	gnomAD
rs1554465129	p.Pro603Leu	missense variant	-	NC_000007.14:g.142034690C>T	gnomAD
rs868914154	p.Pro603Ser	missense variant	-	NC_000007.14:g.142034689C>T	-
rs781927352	p.Asn604Ser	missense variant	-	NC_000007.14:g.142034693A>G	ExAC,TOPMed,gnomAD
rs372853118	p.Lys605Glu	missense variant	-	NC_000007.14:g.142034695A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1554465132	p.Lys605Arg	missense variant	-	NC_000007.14:g.142034696A>G	gnomAD
NCI-TCGA novel	p.Lys605Thr	missense variant	-	NC_000007.14:g.142034696A>C	NCI-TCGA
COSM6108860	p.Arg606Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142034699G>C	NCI-TCGA Cosmic
COSM2861996	p.Arg606Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142034699G>A	NCI-TCGA Cosmic
rs1409962588	p.Arg606Gly	missense variant	-	NC_000007.14:g.142034698A>G	TOPMed
rs377214911	p.Ser607Asn	missense variant	-	NC_000007.14:g.142034702G>A	ESP,ExAC,TOPMed,gnomAD
rs1177705843	p.Ser607Arg	missense variant	-	NC_000007.14:g.142034701A>C	TOPMed
rs377214911	p.Ser607Thr	missense variant	-	NC_000007.14:g.142034702G>C	ESP,ExAC,TOPMed,gnomAD
rs1220376062	p.Phe608Leu	missense variant	-	NC_000007.14:g.142034704T>C	TOPMed
rs1490889499	p.Ile609Val	missense variant	-	NC_000007.14:g.142034707A>G	TOPMed,gnomAD
rs782002751	p.Thr611Ser	missense variant	-	NC_000007.14:g.142034713A>T	ExAC,gnomAD
rs369813631	p.Arg612His	missense variant	-	NC_000007.14:g.142034717G>A	ESP,ExAC,TOPMed,gnomAD
rs782122165	p.Arg612Cys	missense variant	-	NC_000007.14:g.142034716C>T	ExAC,TOPMed,gnomAD
rs781807397	p.Ser613Phe	missense variant	-	NC_000007.14:g.142034720C>T	ExAC
rs372476876	p.Ala616Val	missense variant	-	NC_000007.14:g.142034729C>T	ESP,ExAC,TOPMed,gnomAD
rs547400304	p.Ala616Thr	missense variant	-	NC_000007.14:g.142034728G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs372476876	p.Ala616Glu	missense variant	-	NC_000007.14:g.142034729C>A	ESP,ExAC,TOPMed,gnomAD
rs1554465173	p.Gly617Val	missense variant	-	NC_000007.14:g.142034732G>T	gnomAD
rs1367540562	p.Ser618Pro	missense variant	-	NC_000007.14:g.142034734T>C	TOPMed
rs782618430	p.Phe621Leu	missense variant	-	NC_000007.14:g.142034745T>A	ExAC,TOPMed,gnomAD
rs1554465187	p.Ala622Thr	missense variant	-	NC_000007.14:g.142034746G>A	gnomAD
rs1554465193	p.Ala622Gly	missense variant	-	NC_000007.14:g.142034747C>G	gnomAD
rs551921132	p.His624Arg	missense variant	-	NC_000007.14:g.142034753A>G	ExAC,gnomAD
rs551921132	p.His624Leu	missense variant	-	NC_000007.14:g.142034753A>T	ExAC,gnomAD
rs1554465201	p.Trp625Ter	stop gained	-	NC_000007.14:g.142034756G>A	gnomAD
COSM3634507	p.Gly627Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142034762G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly627Ter	stop gained	-	NC_000007.14:g.142034761G>T	NCI-TCGA
rs539459227	p.Asp628Gly	missense variant	-	NC_000007.14:g.142034765A>G	1000Genomes
rs1554465207	p.Asp628Glu	missense variant	-	NC_000007.14:g.142034766C>A	gnomAD
NCI-TCGA novel	p.Asn629Ile	missense variant	-	NC_000007.14:g.142034768A>T	NCI-TCGA
NCI-TCGA novel	p.Asn629Tyr	missense variant	-	NC_000007.14:g.142034767A>T	NCI-TCGA
rs1554465216	p.Thr630Ser	missense variant	-	NC_000007.14:g.142034771C>G	gnomAD
rs1297184013	p.Thr630Ala	missense variant	-	NC_000007.14:g.142034770A>G	TOPMed,gnomAD
rs782592725	p.Ala631Asp	missense variant	-	NC_000007.14:g.142034774C>A	ExAC,gnomAD
rs782423007	p.Thr632Ala	missense variant	-	NC_000007.14:g.142034776A>G	ExAC,gnomAD
rs782259332	p.Asp635Glu	missense variant	-	NC_000007.14:g.142034787C>A	ExAC,TOPMed,gnomAD
rs782680949	p.Asp635Asn	missense variant	-	NC_000007.14:g.142034785G>A	ExAC,TOPMed,gnomAD
rs782259332	p.Asp635Glu	missense variant	-	NC_000007.14:g.142034787C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp635Tyr	missense variant	-	NC_000007.14:g.142034785G>T	NCI-TCGA
rs373321374	p.Leu636Met	missense variant	-	NC_000007.14:g.142034788C>A	ESP,ExAC,TOPMed,gnomAD
rs190777514	p.Arg637Ser	missense variant	-	NC_000007.14:g.142034793A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs782036029	p.Trp638Ter	stop gained	-	NC_000007.14:g.142034796G>A	ExAC,gnomAD
rs201436141	p.Trp638Ser	missense variant	-	NC_000007.14:g.142034795G>C	ExAC,TOPMed,gnomAD
rs1554465246	p.Ser639Tyr	missense variant	-	NC_000007.14:g.142034798C>A	gnomAD
rs782148818	p.Ile640Val	missense variant	-	NC_000007.14:g.142034800A>G	ExAC,gnomAD
rs782764005	p.Pro641Arg	missense variant	-	NC_000007.14:g.142034804C>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro641Thr	missense variant	-	NC_000007.14:g.142034803C>A	NCI-TCGA
rs1201549873	p.Gly642Ser	missense variant	-	NC_000007.14:g.142034806G>A	TOPMed
rs1554465268	p.Val643Gly	missense variant	-	NC_000007.14:g.142034810T>G	gnomAD
rs200523868	p.Val643Met	missense variant	-	NC_000007.14:g.142034809G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs782738646	p.Glu645Asp	missense variant	-	NC_000007.14:g.142034817G>T	ExAC,gnomAD
rs1193215386	p.Phe646Cys	missense variant	-	NC_000007.14:g.142034819T>G	TOPMed
COSM3634516	p.Leu648Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142034824C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro652Ser	missense variant	-	NC_000007.14:g.142034836C>T	NCI-TCGA
rs782440814	p.Met653Val	missense variant	-	NC_000007.14:g.142034839A>G	ExAC,TOPMed,gnomAD
rs1554465292	p.Met653Thr	missense variant	-	NC_000007.14:g.142034840T>C	gnomAD
rs782159903	p.Val654Gly	missense variant	-	NC_000007.14:g.142036170T>G	ExAC,TOPMed,gnomAD
rs1402922599	p.Pro656Ser	missense variant	-	NC_000007.14:g.142036175C>T	TOPMed
rs782787986	p.Ile658Val	missense variant	-	NC_000007.14:g.142036181A>G	ExAC,gnomAD
rs374280812	p.Cys659Tyr	missense variant	-	NC_000007.14:g.142036185G>A	ESP,ExAC,gnomAD
rs1554465738	p.Gly660Ala	missense variant	-	NC_000007.14:g.142036188G>C	TOPMed
NCI-TCGA novel	p.Gly660Cys	missense variant	-	NC_000007.14:g.142036187G>T	NCI-TCGA
NCI-TCGA novel	p.Gly660Val	missense variant	-	NC_000007.14:g.142036188G>T	NCI-TCGA
rs1554465744	p.Leu663Ser	missense variant	-	NC_000007.14:g.142036197T>C	gnomAD
COSM3634519	p.Asp664Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142036199G>A	NCI-TCGA Cosmic
rs1460617216	p.Thr665Asn	missense variant	-	NC_000007.14:g.142036203C>A	TOPMed,gnomAD
COSM3634522	p.Pro666Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142036206C>T	NCI-TCGA Cosmic
rs781810423	p.Pro666Thr	missense variant	-	NC_000007.14:g.142036205C>A	ExAC,gnomAD
rs781810423	p.Pro666Ala	missense variant	-	NC_000007.14:g.142036205C>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro666His	missense variant	-	NC_000007.14:g.142036206C>A	NCI-TCGA
rs906124194	p.Glu668Gln	missense variant	-	NC_000007.14:g.142036211G>C	TOPMed
rs1444380400	p.Cys670Ser	missense variant	-	NC_000007.14:g.142036218G>C	TOPMed,gnomAD
rs1444380400	p.Cys670Tyr	missense variant	-	NC_000007.14:g.142036218G>A	TOPMed,gnomAD
rs1554465759	p.Arg671Gly	missense variant	-	NC_000007.14:g.142036220A>G	gnomAD
rs370644495	p.Arg671Met	missense variant	-	NC_000007.14:g.142036221G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374646574	p.Arg672Trp	missense variant	-	NC_000007.14:g.142036223C>T	ESP,ExAC,TOPMed,gnomAD
rs782608917	p.Arg672Gln	missense variant	-	NC_000007.14:g.142036224G>A	ExAC,TOPMed,gnomAD
rs1554465769	p.Met674Thr	missense variant	-	NC_000007.14:g.142036230T>C	gnomAD
rs1193602312	p.Met674Leu	missense variant	-	NC_000007.14:g.142036229A>T	TOPMed
NCI-TCGA novel	p.Gln675Ter	stop gained	-	NC_000007.14:g.142036232C>T	NCI-TCGA
rs1481351168	p.Leu676Ser	missense variant	-	NC_000007.14:g.142036236T>C	TOPMed
rs1554465773	p.Gly677Arg	missense variant	-	NC_000007.14:g.142036238G>C	gnomAD
rs367841743	p.Tyr680Phe	missense variant	-	NC_000007.14:g.142036248A>T	ESP,ExAC,TOPMed,gnomAD
rs367841743	p.Tyr680Cys	missense variant	-	NC_000007.14:g.142036248A>G	ESP,ExAC,TOPMed,gnomAD
rs782316099	p.Pro681Leu	missense variant	-	NC_000007.14:g.142036251C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro681Ser	missense variant	-	NC_000007.14:g.142036250C>T	NCI-TCGA
rs1554465781	p.Phe682Leu	missense variant	-	NC_000007.14:g.142036253T>C	gnomAD
rs1554465785	p.Ser683Thr	missense variant	-	NC_000007.14:g.142036256T>A	gnomAD
rs782294701	p.Ser683Phe	missense variant	-	NC_000007.14:g.142036257C>T	ExAC,TOPMed,gnomAD
COSM4895457	p.His686Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142036265C>T	NCI-TCGA Cosmic
rs782009801	p.His686Arg	missense variant	-	NC_000007.14:g.142036266A>G	ExAC,TOPMed,gnomAD
rs782411551	p.His686Asp	missense variant	-	NC_000007.14:g.142036265C>G	ExAC,gnomAD
rs782411551	p.His686Asn	missense variant	-	NC_000007.14:g.142036265C>A	ExAC,gnomAD
rs374754723	p.Asn687Ser	missense variant	-	NC_000007.14:g.142036269A>G	ESP,TOPMed
rs1554465805	p.Gln689Ter	stop gained	-	NC_000007.14:g.142036274C>T	gnomAD
rs1554465807	p.Gly690Ser	missense variant	-	NC_000007.14:g.142036277G>A	gnomAD
rs1554465808	p.Tyr691Cys	missense variant	-	NC_000007.14:g.142036281A>G	gnomAD
rs1554465812	p.Lys692Arg	missense variant	-	NC_000007.14:g.142036284A>G	gnomAD
COSM3736676	p.Asp693Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142036823G>A	NCI-TCGA Cosmic
rs1554466069	p.Gln694His	missense variant	-	NC_000007.14:g.142036828G>T	gnomAD
rs1554466065	p.Gln694Arg	missense variant	-	NC_000007.14:g.142036827A>G	gnomAD
NCI-TCGA novel	p.Gln694Lys	missense variant	-	NC_000007.14:g.142036826C>A	NCI-TCGA
COSM4895790	p.Asp695Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142036829G>A	NCI-TCGA Cosmic
rs1554466078	p.Pro696Ser	missense variant	-	NC_000007.14:g.142036832C>T	gnomAD
rs1554466082	p.Ala697Thr	missense variant	-	NC_000007.14:g.142036835G>A	gnomAD
rs782329716	p.Ala697Val	missense variant	-	NC_000007.14:g.142036836C>T	ExAC,TOPMed,gnomAD
rs782329716	p.Ala697Asp	missense variant	-	NC_000007.14:g.142036836C>A	ExAC,TOPMed,gnomAD
COSM3878831	p.Phe699Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142036842T>C	NCI-TCGA Cosmic
rs74975727	p.Phe699Leu	missense variant	-	NC_000007.14:g.142036843T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs142123491	p.Ala701Val	missense variant	-	NC_000007.14:g.142036848C>T	1000Genomes,gnomAD
rs782092847	p.Asp702His	missense variant	-	NC_000007.14:g.142036850G>C	ExAC,gnomAD
COSM4476937	p.Ser703Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142036854C>T	NCI-TCGA Cosmic
rs1157978062	p.Leu704Val	missense variant	-	NC_000007.14:g.142036856C>G	TOPMed,gnomAD
rs1554466110	p.Asn707Asp	missense variant	-	NC_000007.14:g.142036865A>G	gnomAD
rs868995180	p.Ser708Phe	missense variant	-	NC_000007.14:g.142036869C>T	-
rs1554466122	p.His711Tyr	missense variant	-	NC_000007.14:g.142036877C>T	gnomAD
rs1554466129	p.His711Gln	missense variant	-	NC_000007.14:g.142036879C>A	gnomAD
rs1249802333	p.Tyr712Cys	missense variant	-	NC_000007.14:g.142036881A>G	TOPMed,gnomAD
rs782047805	p.Asn714Asp	missense variant	-	NC_000007.14:g.142036886A>G	ExAC,TOPMed,gnomAD
rs1554466149	p.Ile715Leu	missense variant	-	NC_000007.14:g.142036889A>C	gnomAD
rs782806699	p.Arg716Cys	missense variant	-	NC_000007.14:g.142036892C>T	ExAC,TOPMed,gnomAD
rs782806699	p.Arg716Gly	missense variant	-	NC_000007.14:g.142036892C>G	ExAC,TOPMed,gnomAD
rs202196208	p.Arg716His	missense variant	-	NC_000007.14:g.142036893G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs202196208	p.Arg716Leu	missense variant	-	NC_000007.14:g.142036893G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs782519815	p.Tyr717Cys	missense variant	-	NC_000007.14:g.142036896A>G	ExAC,TOPMed,gnomAD
rs1323927247	p.Thr718Ile	missense variant	-	NC_000007.14:g.142036899C>T	TOPMed,gnomAD
rs782651235	p.Leu720Trp	missense variant	-	NC_000007.14:g.142036905T>G	ExAC,gnomAD
COSM1448701	p.Pro721Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142036907C>T	NCI-TCGA Cosmic
COSM1086444	p.Tyr722His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142036910T>C	NCI-TCGA Cosmic
rs781838519	p.Leu723Val	missense variant	-	NC_000007.14:g.142036913C>G	ExAC,TOPMed,gnomAD
COSM5534516	p.Thr725Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142036920C>T	NCI-TCGA Cosmic
rs782588998	p.Leu726Val	missense variant	-	NC_000007.14:g.142036922C>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu726SerPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.142036920C>-	NCI-TCGA
rs116034282	p.Arg729His	missense variant	-	NC_000007.14:g.142036932G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375055229	p.Arg729Cys	missense variant	-	NC_000007.14:g.142036931C>T	ExAC,TOPMed,gnomAD
rs1300952698	p.Ala730Val	missense variant	-	NC_000007.14:g.142036935C>T	TOPMed,gnomAD
rs782240946	p.Ala730Ser	missense variant	-	NC_000007.14:g.142036934G>T	ExAC,TOPMed,gnomAD
rs1300952698	p.Ala730Gly	missense variant	-	NC_000007.14:g.142036935C>G	TOPMed,gnomAD
COSM6176390	p.His731Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142036937C>T	NCI-TCGA Cosmic
rs1554466209	p.Arg733Gln	missense variant	-	NC_000007.14:g.142036944G>A	gnomAD
rs782352514	p.Arg733Ter	stop gained	-	NC_000007.14:g.142036943C>T	ExAC,TOPMed,gnomAD
rs782061861	p.Asp735Asn	missense variant	-	NC_000007.14:g.142036949G>A	ExAC,TOPMed,gnomAD
rs199856344	p.Thr736Met	missense variant	-	NC_000007.14:g.142036953C>T	ESP,ExAC,TOPMed,gnomAD
rs782154878	p.Ala738Thr	missense variant	-	NC_000007.14:g.142036958G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala738Val	missense variant	-	NC_000007.14:g.142036959C>T	NCI-TCGA
rs782797990	p.Arg739Ser	missense variant	-	NC_000007.14:g.142036963G>T	ExAC,gnomAD
rs1489668081	p.Pro740Leu	missense variant	-	NC_000007.14:g.142036965C>T	TOPMed
rs1024229488	p.Pro740Ser	missense variant	-	NC_000007.14:g.142036964C>T	TOPMed,gnomAD
rs1024229488	p.Pro740Thr	missense variant	-	NC_000007.14:g.142036964C>A	TOPMed,gnomAD
rs782105470	p.His743Gln	missense variant	-	NC_000007.14:g.142036975T>A	ExAC,gnomAD
rs1247661593	p.His743Asp	missense variant	-	NC_000007.14:g.142036973C>G	TOPMed
NCI-TCGA novel	p.His743Leu	missense variant	-	NC_000007.14:g.142036974A>T	NCI-TCGA
rs755311644	p.Tyr746Cys	missense variant	-	NC_000007.14:g.142038536A>G	ExAC,TOPMed,gnomAD
rs1427610672	p.Glu747Gln	missense variant	-	NC_000007.14:g.142038538G>C	TOPMed,gnomAD
rs1427610672	p.Glu747Lys	missense variant	-	NC_000007.14:g.142038538G>A	TOPMed,gnomAD
rs748542470	p.Glu747Gly	missense variant	-	NC_000007.14:g.142038539A>G	ExAC,gnomAD
rs1342021155	p.Asp748Gly	missense variant	-	NC_000007.14:g.142038542A>G	TOPMed
rs1359680000	p.Asp748His	missense variant	-	NC_000007.14:g.142038541G>C	gnomAD
COSM3832093	p.Ser750Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142038548G>T	NCI-TCGA Cosmic
rs1282564332	p.Trp752Cys	missense variant	-	NC_000007.14:g.142038555G>T	gnomAD
rs772288267	p.Asp753Asn	missense variant	-	NC_000007.14:g.142038556G>A	ExAC,gnomAD
rs772288267	p.Asp753Tyr	missense variant	-	NC_000007.14:g.142038556G>T	ExAC,gnomAD
rs1229475146	p.Asp753Glu	missense variant	-	NC_000007.14:g.142038558T>A	gnomAD
rs113689539	p.His755Tyr	missense variant	-	NC_000007.14:g.142038562C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201786618	p.Gln757His	missense variant	-	NC_000007.14:g.142038570G>T	ExAC,TOPMed,gnomAD
rs763035955	p.Gln757Pro	missense variant	-	NC_000007.14:g.142038569A>C	ExAC,TOPMed,gnomAD
COSM1086446	p.Phe758Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142038573C>A	NCI-TCGA Cosmic
rs765827662	p.Trp760Arg	missense variant	-	NC_000007.14:g.142038577T>C	TOPMed
rs1235286313	p.Gly761Trp	missense variant	-	NC_000007.14:g.142038580G>T	gnomAD
COSM3832096	p.Gly763Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142038587G>A	NCI-TCGA Cosmic
rs376805556	p.Gly763Ser	missense variant	-	NC_000007.14:g.142038586G>A	ESP,ExAC,TOPMed,gnomAD
rs1475522398	p.Leu764Phe	missense variant	-	NC_000007.14:g.142038589C>T	gnomAD
rs906776942	p.Ile766Val	missense variant	-	NC_000007.14:g.142038595A>G	gnomAD
rs750049444	p.Val769Asp	missense variant	-	NC_000007.14:g.142038605T>A	ExAC,gnomAD
rs1435945116	p.Glu772Asp	missense variant	-	NC_000007.14:g.142038615A>C	TOPMed,gnomAD
rs1219532474	p.Gly773Ser	missense variant	-	NC_000007.14:g.142040115G>A	TOPMed
rs768666141	p.Gly773Asp	missense variant	-	NC_000007.14:g.142040116G>A	ExAC,TOPMed,gnomAD
rs768666141	p.Gly773Val	missense variant	-	NC_000007.14:g.142040116G>T	ExAC,TOPMed,gnomAD
rs774448466	p.Ala774Thr	missense variant	-	NC_000007.14:g.142040118G>A	ExAC,gnomAD
rs747913972	p.Ala774Glu	missense variant	-	NC_000007.14:g.142040119C>A	ExAC,gnomAD
rs771831942	p.Glu775Lys	missense variant	-	NC_000007.14:g.142040121G>A	ExAC,TOPMed,gnomAD
rs771831942	p.Glu775Gln	missense variant	-	NC_000007.14:g.142040121G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu775Ter	stop gained	-	NC_000007.14:g.142040121G>T	NCI-TCGA
rs1230766400	p.Lys776Gln	missense variant	-	NC_000007.14:g.142040124A>C	gnomAD
rs1230766400	p.Lys776Glu	missense variant	-	NC_000007.14:g.142040124A>G	gnomAD
rs772908334	p.Lys776Arg	missense variant	-	NC_000007.14:g.142040125A>G	ExAC,gnomAD
rs772908334	p.Lys776Thr	missense variant	-	NC_000007.14:g.142040125A>C	ExAC,gnomAD
rs1347890132	p.Val777Met	missense variant	-	NC_000007.14:g.142040127G>A	gnomAD
NCI-TCGA novel	p.Met778Val	missense variant	-	NC_000007.14:g.142040130A>G	NCI-TCGA
rs1267649496	p.Val781Met	missense variant	-	NC_000007.14:g.142040139G>A	gnomAD
rs1452906127	p.Pro782His	missense variant	-	NC_000007.14:g.142040143C>A	gnomAD
NCI-TCGA novel	p.Pro782LeuPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.142040142C>-	NCI-TCGA
rs1267900787	p.Ala784Val	missense variant	-	NC_000007.14:g.142040149C>T	gnomAD
rs766048225	p.Ala784Thr	missense variant	-	NC_000007.14:g.142040148G>A	ExAC,TOPMed,gnomAD
rs374895549	p.Tyr787Asn	missense variant	-	NC_000007.14:g.142040157T>A	ESP,ExAC,TOPMed,gnomAD
rs371423578	p.Tyr789Ter	stop gained	-	NC_000007.14:g.142040165C>A	ESP,ExAC,TOPMed,gnomAD
rs753269154	p.Glu790Gly	missense variant	-	NC_000007.14:g.142040167A>G	ExAC,TOPMed,gnomAD
rs1163875284	p.Glu790Lys	missense variant	-	NC_000007.14:g.142040166G>A	gnomAD
rs753269154	p.Glu790Ala	missense variant	-	NC_000007.14:g.142040167A>C	ExAC,TOPMed,gnomAD
COSM1086450	p.Gly792Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142040722G>A	NCI-TCGA Cosmic
rs538201085	p.Gly792Glu	missense variant	-	NC_000007.14:g.142040723G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly792Ala	missense variant	-	NC_000007.14:g.142040723G>C	NCI-TCGA
rs1258407739	p.Gly792Trp	missense variant	-	NC_000007.14:g.142040722G>T	gnomAD
rs767785374	p.Ser793Asn	missense variant	-	NC_000007.14:g.142040726G>A	ExAC,gnomAD
rs756252544	p.Trp797Arg	missense variant	-	NC_000007.14:g.142040737T>C	ExAC,gnomAD
rs1168847021	p.Arg798Trp	missense variant	-	NC_000007.14:g.142040740A>T	gnomAD
rs1372860929	p.Lys799Thr	missense variant	-	NC_000007.14:g.142040744A>C	gnomAD
rs780332451	p.Lys799Glu	missense variant	-	NC_000007.14:g.142040743A>G	ExAC
rs979538717	p.Glu803Lys	missense variant	-	NC_000007.14:g.142040755G>A	TOPMed,gnomAD
rs1218992894	p.Met804Thr	missense variant	-	NC_000007.14:g.142040759T>C	TOPMed
rs1251985936	p.Met804Leu	missense variant	-	NC_000007.14:g.142040758A>T	TOPMed
COSM3634544	p.Glu805Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142040761G>A	NCI-TCGA Cosmic
rs374820212	p.Glu805Gly	missense variant	-	NC_000007.14:g.142040762A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu805Gln	missense variant	-	NC_000007.14:g.142040761G>C	NCI-TCGA
rs267601325	p.Pro807Ser	missense variant	-	NC_000007.14:g.142040767C>T	TOPMed
COSM745297	p.Gly808Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142040771G>T	NCI-TCGA Cosmic
rs1335413349	p.Gly808Arg	missense variant	-	NC_000007.14:g.142040770G>A	gnomAD
NCI-TCGA novel	p.Gly808Glu	missense variant	-	NC_000007.14:g.142040771G>A	NCI-TCGA
rs1230148739	p.Asp809Tyr	missense variant	-	NC_000007.14:g.142040773G>T	gnomAD
NCI-TCGA novel	p.Lys810Thr	missense variant	-	NC_000007.14:g.142040777A>C	NCI-TCGA
rs187975007	p.Ile811Thr	missense variant	-	NC_000007.14:g.142040780T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs770778815	p.His814Gln	missense variant	-	NC_000007.14:g.142040790C>G	ExAC,TOPMed,gnomAD
COSM3922874	p.Leu815Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142040791C>T	NCI-TCGA Cosmic
rs368880817	p.Arg816Ter	stop gained	-	NC_000007.14:g.142040794C>T	ESP,ExAC,TOPMed,gnomAD
rs947903146	p.Arg816Pro	missense variant	-	NC_000007.14:g.142040795G>C	gnomAD
rs947903146	p.Arg816Gln	missense variant	-	NC_000007.14:g.142040795G>A	gnomAD
rs1203125893	p.Gly817Glu	missense variant	-	NC_000007.14:g.142040798G>A	gnomAD
NCI-TCGA novel	p.Gly817Ter	stop gained	-	NC_000007.14:g.142040797G>T	NCI-TCGA
rs373524046	p.Gly818Arg	missense variant	-	NC_000007.14:g.142040800G>C	ESP,TOPMed
rs373524046	p.Gly818Ser	missense variant	-	NC_000007.14:g.142040800G>A	ESP,TOPMed
rs1332554660	p.Gly818Asp	missense variant	-	NC_000007.14:g.142040801G>A	gnomAD
rs745567095	p.Tyr819Cys	missense variant	-	NC_000007.14:g.142040804A>G	ExAC,TOPMed,gnomAD
rs745567095	p.Tyr819Ser	missense variant	-	NC_000007.14:g.142040804A>C	ExAC,TOPMed,gnomAD
rs1184969263	p.Ile820Met	missense variant	-	NC_000007.14:g.142040808C>G	gnomAD
rs1466471174	p.Ile820Val	missense variant	-	NC_000007.14:g.142040806A>G	TOPMed,gnomAD
rs769261294	p.Thr823Lys	missense variant	-	NC_000007.14:g.142040816C>A	ExAC,TOPMed,gnomAD
rs1359110175	p.Gln824Lys	missense variant	-	NC_000007.14:g.142040818C>A	TOPMed
rs1178640473	p.Gln824Leu	missense variant	-	NC_000007.14:g.142040819A>T	gnomAD
NCI-TCGA novel	p.Gln824Glu	missense variant	-	NC_000007.14:g.142040818C>G	NCI-TCGA
rs148440972	p.Gln825Lys	missense variant	-	NC_000007.14:g.142040821C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762548545	p.Thr828Lys	missense variant	-	NC_000007.14:g.142040831C>A	ExAC,gnomAD
COSM3634550	p.Thr829Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142040834C>T	NCI-TCGA Cosmic
rs768988456	p.Thr829Ser	missense variant	-	NC_000007.14:g.142040833A>T	ExAC,TOPMed,gnomAD
rs774927808	p.Thr830Pro	missense variant	-	NC_000007.14:g.142040836A>C	ExAC,gnomAD
rs1432514373	p.Thr830Ile	missense variant	-	NC_000007.14:g.142040837C>T	TOPMed,gnomAD
rs768055689	p.Ala832Val	missense variant	-	NC_000007.14:g.142040843C>T	ExAC,gnomAD
rs768055689	p.Ala832Asp	missense variant	-	NC_000007.14:g.142040843C>A	ExAC,gnomAD
rs762268083	p.Ala832Pro	missense variant	-	NC_000007.14:g.142040842G>C	ExAC,gnomAD
rs762268083	p.Ala832Thr	missense variant	-	NC_000007.14:g.142040842G>A	ExAC,gnomAD
rs750654956	p.Ser833Asn	missense variant	-	NC_000007.14:g.142040846G>A	ExAC,gnomAD
rs147987126	p.Arg834Ter	stop gained	-	NC_000007.14:g.142047786C>T	NCI-TCGA,NCI-TCGA Cosmic
rs147987126	p.Arg834Ter	stop gained	-	NC_000007.14:g.142047786C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778528944	p.Arg834Gln	missense variant	-	NC_000007.14:g.142047787G>A	ExAC,gnomAD
rs778528944	p.Arg834Gln	missense variant	-	NC_000007.14:g.142047787G>A	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys835Asn	missense variant	-	NC_000007.14:g.142047791G>T	NCI-TCGA
rs1356222551	p.Asn836Lys	missense variant	-	NC_000007.14:g.142047794C>A	gnomAD
rs1258261741	p.Pro837Leu	missense variant	-	NC_000007.14:g.142047796C>T	TOPMed
rs368897231	p.Pro837Ala	missense variant	-	NC_000007.14:g.142047795C>G	ESP,ExAC,TOPMed,gnomAD
rs368897231	p.Pro837Thr	missense variant	-	NC_000007.14:g.142047795C>A	ESP,ExAC,TOPMed,gnomAD
rs1294962260	p.Leu838Ile	missense variant	-	NC_000007.14:g.142047798C>A	TOPMed
rs1294962260	p.Leu838Ile	missense variant	-	NC_000007.14:g.142047798C>A	NCI-TCGA
rs556685550	p.Gly839Ser	missense variant	-	NC_000007.14:g.142047801G>A	1000Genomes,ExAC,gnomAD
rs773857751	p.Gly839Val	missense variant	-	NC_000007.14:g.142047802G>T	ExAC,gnomAD
rs1229615324	p.Leu840Pro	missense variant	-	NC_000007.14:g.142047805T>C	gnomAD
COSM3778175	p.Ala843Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142047814C>A	NCI-TCGA Cosmic
rs771380682	p.Ala843Thr	missense variant	-	NC_000007.14:g.142047813G>A	ExAC,gnomAD
rs574870049	p.Leu844Pro	missense variant	-	NC_000007.14:g.142047817T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Asp845Tyr	missense variant	-	NC_000007.14:g.142047819G>T	NCI-TCGA
rs775500483	p.Glu849Lys	missense variant	-	NC_000007.14:g.142047831G>A	ExAC,TOPMed,gnomAD
rs201270012	p.Glu849Gly	missense variant	-	NC_000007.14:g.142047832A>G	ExAC,TOPMed,gnomAD
rs767376034	p.Ala850Thr	missense variant	-	NC_000007.14:g.142047834G>A	ExAC
COSM282785	p.Glu853Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.142047843G>T	NCI-TCGA Cosmic
rs200141280	p.Leu854Phe	missense variant	-	NC_000007.14:g.142047846C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200141280	p.Leu854Ile	missense variant	-	NC_000007.14:g.142047846C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe855Leu	missense variant	-	NC_000007.14:g.142047851C>A	NCI-TCGA
rs766250572	p.Trp856Leu	missense variant	-	NC_000007.14:g.142047853G>T	ExAC,gnomAD
rs371715948	p.Trp856Arg	missense variant	-	NC_000007.14:g.142047852T>C	ESP,ExAC,TOPMed
rs753403339	p.Asp857Asn	missense variant	-	NC_000007.14:g.142047855G>A	ExAC,gnomAD
rs753403339	p.Asp857Asn	missense variant	-	NC_000007.14:g.142047855G>A	NCI-TCGA,NCI-TCGA Cosmic
rs2960746	p.Asn858Asp	missense variant	-	NC_000007.14:g.142047858A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs367922659	p.Gly859Ala	missense variant	-	NC_000007.14:g.142047862G>C	ESP,TOPMed,gnomAD
rs778719364	p.Glu860Lys	missense variant	-	NC_000007.14:g.142047864G>A	ExAC,gnomAD
rs371863994	p.Thr861Lys	missense variant	-	NC_000007.14:g.142047868C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371863994	p.Thr861Arg	missense variant	-	NC_000007.14:g.142047868C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371863994	p.Thr861Met	missense variant	-	NC_000007.14:g.142047868C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371863994	p.Thr861Met	missense variant	-	NC_000007.14:g.142047868C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1382378208	p.Lys862Arg	missense variant	-	NC_000007.14:g.142047871A>G	gnomAD
rs374784553	p.Asp863Asn	missense variant	-	NC_000007.14:g.142047873G>A	ESP,ExAC,gnomAD
rs374784553	p.Asp863Asn	missense variant	-	NC_000007.14:g.142047873G>A	NCI-TCGA,NCI-TCGA Cosmic
rs752451969	p.Thr864Ile	missense variant	-	NC_000007.14:g.142050238C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala866Val	missense variant	-	NC_000007.14:g.142050244C>T	NCI-TCGA
rs757956465	p.Asn867Ser	missense variant	-	NC_000007.14:g.142050247A>G	ExAC,gnomAD
rs2961087	p.Asn867Lys	missense variant	-	NC_000007.14:g.142050248T>G	TOPMed
rs757956465	p.Asn867Thr	missense variant	-	NC_000007.14:g.142050247A>C	ExAC,gnomAD
rs1016579416	p.Asn867Asp	missense variant	-	NC_000007.14:g.142050246A>G	TOPMed
rs1192270770	p.Val869Leu	missense variant	-	NC_000007.14:g.142050252G>T	gnomAD
COSM3634571	p.Leu871Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050258C>T	NCI-TCGA Cosmic
COSM3634568	p.Leu871Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050258C>A	NCI-TCGA Cosmic
rs768578658	p.Cys873Trp	missense variant	-	NC_000007.14:g.142050266T>G	ExAC,TOPMed,gnomAD
COSM4396886	p.Glu874Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050267G>A	NCI-TCGA Cosmic
rs1324062233	p.Ser876Phe	missense variant	-	NC_000007.14:g.142050274C>T	TOPMed
NCI-TCGA novel	p.Ser876Tyr	missense variant	-	NC_000007.14:g.142050274C>A	NCI-TCGA
rs770210571	p.Val877Leu	missense variant	-	NC_000007.14:g.142050276G>C	ExAC,gnomAD
rs1383104101	p.Val877Ala	missense variant	-	NC_000007.14:g.142050277T>C	gnomAD
rs775376917	p.Asn880Asp	missense variant	-	NC_000007.14:g.142050697A>G	ExAC,gnomAD
rs749949340	p.Arg881His	missense variant	-	NC_000007.14:g.142050701G>A	ExAC,TOPMed,gnomAD
rs201733895	p.Arg881Cys	missense variant	-	NC_000007.14:g.142050700C>T	ExAC,TOPMed,gnomAD
rs749949340	p.Arg881Leu	missense variant	-	NC_000007.14:g.142050701G>T	ExAC,TOPMed,gnomAD
COSM86799	p.Glu883Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050707A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu883Lys	missense variant	-	NC_000007.14:g.142050706G>A	NCI-TCGA
rs1207484947	p.Val884Met	missense variant	-	NC_000007.14:g.142050709G>A	gnomAD
NCI-TCGA novel	p.Val884Glu	missense variant	-	NC_000007.14:g.142050710T>A	NCI-TCGA
rs374204300	p.Asn885Thr	missense variant	-	NC_000007.14:g.142050713A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM6108848	p.Ile886Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050716T>C	NCI-TCGA Cosmic
rs766985240	p.Gln888Arg	missense variant	-	NC_000007.14:g.142050722A>G	ExAC,TOPMed,gnomAD
rs750913774	p.Thr890Asn	missense variant	-	NC_000007.14:g.142050728C>A	ExAC,TOPMed,gnomAD
rs1168367656	p.Tyr891Cys	missense variant	-	NC_000007.14:g.142050731A>G	TOPMed
COSM1448710	p.Lys892Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050734A>C	NCI-TCGA Cosmic
COSM6108845	p.Lys892Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.142050733A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys892Asn	missense variant	-	NC_000007.14:g.142050735G>T	NCI-TCGA
rs200893409	p.Asn895Ser	missense variant	-	NC_000007.14:g.142050743A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1248852726	p.Leu897Phe	missense variant	-	NC_000007.14:g.142050750A>T	TOPMed
rs766895812	p.Leu897Ser	missense variant	-	NC_000007.14:g.142050749T>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu897Val	missense variant	-	NC_000007.14:g.142050748T>G	NCI-TCGA
NCI-TCGA novel	p.Phe899Leu	missense variant	-	NC_000007.14:g.142050756T>G	NCI-TCGA
COSM3634574	p.Asn900Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050758A>T	NCI-TCGA Cosmic
rs1338618493	p.Asn900Ser	missense variant	-	NC_000007.14:g.142050758A>G	gnomAD
COSM745294	p.Glu901Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050762G>T	NCI-TCGA Cosmic
rs534301777	p.Glu901Gln	missense variant	-	NC_000007.14:g.142050760G>C	1000Genomes,ExAC,gnomAD
COSM4570419	p.Ile902Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050764T>A	NCI-TCGA Cosmic
COSM3634577	p.Leu905Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050772C>T	NCI-TCGA Cosmic
rs371591084	p.Leu905Ile	missense variant	-	NC_000007.14:g.142050772C>A	NCI-TCGA,NCI-TCGA Cosmic
rs371591084	p.Leu905Ile	missense variant	-	NC_000007.14:g.142050772C>A	ESP,ExAC,TOPMed,gnomAD
rs758469281	p.Gly906Trp	missense variant	-	NC_000007.14:g.142050775G>T	ExAC,gnomAD
rs187898444	p.Thr907Met	missense variant	-	NC_000007.14:g.142050779C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1342317223	p.Glu909Asp	missense variant	-	NC_000007.14:g.142050786A>C	TOPMed
rs769794141	p.Pro910Leu	missense variant	-	NC_000007.14:g.142050788C>T	ExAC,gnomAD
rs769794141	p.Pro910Leu	missense variant	-	NC_000007.14:g.142050788C>T	NCI-TCGA
COSM3878837	p.Ser911Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050792C>A	NCI-TCGA Cosmic
rs775571398	p.Ser911Asn	missense variant	-	NC_000007.14:g.142050791G>A	ExAC,TOPMed,gnomAD
rs775571398	p.Ser911Thr	missense variant	-	NC_000007.14:g.142050791G>C	ExAC,TOPMed,gnomAD
rs1456471736	p.Val913Ile	missense variant	-	NC_000007.14:g.142050796G>A	TOPMed,gnomAD
rs1373032416	p.Thr914Ile	missense variant	-	NC_000007.14:g.142050800C>T	gnomAD
rs761413101	p.Val915Leu	missense variant	-	NC_000007.14:g.142050802G>T	ExAC,gnomAD
COSM3878840	p.His917Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050808C>T	NCI-TCGA Cosmic
rs145430437	p.Asn918Lys	missense variant	-	NC_000007.14:g.142050813T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs575790209	p.Gly919Asp	missense variant	-	NC_000007.14:g.142050815G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM3995409	p.Val920Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050817G>T	NCI-TCGA Cosmic
rs760193866	p.Val920Ile	missense variant	-	NC_000007.14:g.142050817G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val920Leu	missense variant	-	NC_000007.14:g.142050817G>C	NCI-TCGA
rs200498907	p.Gln923Ter	stop gained	-	NC_000007.14:g.142050826C>T	ESP,ExAC,TOPMed,gnomAD
rs754398347	p.Thr924Ala	missense variant	-	NC_000007.14:g.142050829A>G	ExAC,gnomAD
rs754398347	p.Thr924Pro	missense variant	-	NC_000007.14:g.142050829A>C	ExAC,gnomAD
rs1463574738	p.Thr924Ile	missense variant	-	NC_000007.14:g.142050830C>T	TOPMed
NCI-TCGA novel	p.Ser925Tyr	missense variant	-	NC_000007.14:g.142050833C>A	NCI-TCGA
rs1325829429	p.Pro926Ser	missense variant	-	NC_000007.14:g.142050835C>T	NCI-TCGA Cosmic
rs1325829429	p.Pro926Ser	missense variant	-	NC_000007.14:g.142050835C>T	gnomAD
rs765556358	p.Thr927Pro	missense variant	-	NC_000007.14:g.142050838A>C	ExAC,TOPMed,gnomAD
rs765556358	p.Thr927Ala	missense variant	-	NC_000007.14:g.142050838A>G	ExAC,TOPMed,gnomAD
rs753133766	p.Thr927Ile	missense variant	-	NC_000007.14:g.142050839C>T	ExAC,gnomAD
rs1321529491	p.Thr929Ile	missense variant	-	NC_000007.14:g.142050845C>T	gnomAD
rs1203045133	p.Tyr930Cys	missense variant	-	NC_000007.14:g.142050848A>G	TOPMed,gnomAD
COSM6108842	p.Asn933Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050858C>A	NCI-TCGA Cosmic
rs1261564245	p.Leu934Met	missense variant	-	NC_000007.14:g.142050859C>A	gnomAD
rs1486944113	p.Lys935Arg	missense variant	-	NC_000007.14:g.142050863A>G	TOPMed,gnomAD
rs751889879	p.Val936Phe	missense variant	-	NC_000007.14:g.142052294G>T	ExAC,gnomAD
rs191173315	p.Ala937Thr	missense variant	-	NC_000007.14:g.142052297G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM3634589	p.Ile938Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052300A>T	NCI-TCGA Cosmic
COSM1448713	p.Ile938Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052301T>G	NCI-TCGA Cosmic
rs1306564536	p.Ile938Val	missense variant	-	NC_000007.14:g.142052300A>G	TOPMed,gnomAD
rs1306564536	p.Ile938Leu	missense variant	-	NC_000007.14:g.142052300A>C	TOPMed,gnomAD
rs1248651160	p.Asp941His	missense variant	-	NC_000007.14:g.142052309G>C	TOPMed,gnomAD
rs1248651160	p.Asp941Asn	missense variant	-	NC_000007.14:g.142052309G>A	TOPMed,gnomAD
rs754826511	p.Ile942Thr	missense variant	-	NC_000007.14:g.142052313T>C	ExAC,gnomAD
rs747835199	p.Asp943Asn	missense variant	-	NC_000007.14:g.142052315G>A	ExAC,gnomAD
rs1423313024	p.Asp943Gly	missense variant	-	NC_000007.14:g.142052316A>G	TOPMed
rs747835199	p.Asp943Asn	missense variant	-	NC_000007.14:g.142052315G>A	NCI-TCGA
NCI-TCGA novel	p.Leu944Ile	missense variant	-	NC_000007.14:g.142052318C>A	NCI-TCGA
rs1469080553	p.Leu945His	missense variant	-	NC_000007.14:g.142052322T>A	TOPMed
rs777378634	p.Leu945Phe	missense variant	-	NC_000007.14:g.142052321C>T	ExAC,gnomAD
COSM1086459	p.Gly947Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052328G>A	NCI-TCGA Cosmic
rs746699052	p.Gly947Arg	missense variant	-	NC_000007.14:g.142052327G>A	ExAC,gnomAD
rs746699052	p.Gly947Arg	missense variant	-	NC_000007.14:g.142052327G>A	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu948Lys	missense variant	-	NC_000007.14:g.142052330G>A	NCI-TCGA
COSM1086463	p.Tyr950Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052337A>G	NCI-TCGA Cosmic
rs180749383	p.Thr951Ala	missense variant	-	NC_000007.14:g.142052339A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776066701	p.Thr951Arg	missense variant	-	NC_000007.14:g.142052340C>G	ExAC,TOPMed,gnomAD
rs776066701	p.Thr951Ile	missense variant	-	NC_000007.14:g.142052340C>T	ExAC,TOPMed,gnomAD
rs776130546	p.Glu953Lys	missense variant	-	NC_000007.14:g.142052345G>A	ExAC,gnomAD
rs776130546	p.Glu953Gln	missense variant	-	NC_000007.14:g.142052345G>C	ExAC,gnomAD
rs751800690	p.Ser955Asn	missense variant	-	NC_000007.14:g.142052352G>A	ExAC,gnomAD
rs764603605	p.Ser955Cys	missense variant	-	NC_000007.14:g.142052351A>T	ExAC,gnomAD
rs767877732	p.Ile956Leu	missense variant	-	NC_000007.14:g.142052354A>T	ExAC,gnomAD
rs750414725	p.Ile958Thr	missense variant	-	NC_000007.14:g.142052361T>C	ExAC,gnomAD
NCI-TCGA novel	p.Arg959Met	missense variant	-	NC_000007.14:g.142052364G>T	NCI-TCGA
rs1461545242	p.Glu962Gly	missense variant	-	NC_000007.14:g.142052373A>G	gnomAD
NCI-TCGA novel	p.Glu962Ter	stop gained	-	NC_000007.14:g.142052372G>T	NCI-TCGA
rs1185035115	p.Ile964Leu	missense variant	-	NC_000007.14:g.142052378A>C	gnomAD
rs1185035115	p.Ile964Val	missense variant	-	NC_000007.14:g.142052378A>G	gnomAD
rs756226556	p.Asp965Asn	missense variant	-	NC_000007.14:g.142052381G>A	ExAC,TOPMed,gnomAD
rs756226556	p.Asp965Tyr	missense variant	-	NC_000007.14:g.142052381G>T	ExAC,TOPMed,gnomAD
rs1052186356	p.Cys966Ser	missense variant	-	NC_000007.14:g.142052385G>C	TOPMed,gnomAD
rs1186847866	p.Cys966Arg	missense variant	-	NC_000007.14:g.142052384T>C	gnomAD
rs1186847866	p.Cys966Ser	missense variant	-	NC_000007.14:g.142052384T>A	gnomAD
rs1170107519	p.Pro968Ala	missense variant	-	NC_000007.14:g.142052390C>G	gnomAD
rs1406912099	p.Pro968Leu	missense variant	-	NC_000007.14:g.142052391C>T	gnomAD
rs1406912099	p.Pro968Leu	missense variant	-	NC_000007.14:g.142052391C>T	NCI-TCGA
rs377088094	p.Glu970Lys	missense variant	-	NC_000007.14:g.142052396G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199621773	p.Asn971Asp	missense variant	-	NC_000007.14:g.142052399A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746825641	p.Gly972Arg	missense variant	-	NC_000007.14:g.142052402G>C	ExAC,gnomAD
rs1360539571	p.Ala973Thr	missense variant	-	NC_000007.14:g.142052405G>A	gnomAD
rs550361154	p.Ala973Asp	missense variant	-	NC_000007.14:g.142052406C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs372426741	p.Ser974Phe	missense variant	-	NC_000007.14:g.142052409C>T	ESP,TOPMed,gnomAD
rs372426741	p.Ser974Cys	missense variant	-	NC_000007.14:g.142052409C>G	ESP,TOPMed,gnomAD
rs370898028	p.Ala975Ser	missense variant	-	NC_000007.14:g.142052411G>T	ESP,ExAC,gnomAD
rs775838690	p.Glu976Lys	missense variant	-	NC_000007.14:g.142052414G>A	ExAC,TOPMed,gnomAD
rs116536012	p.Glu976Ala	missense variant	-	NC_000007.14:g.142052415A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775838690	p.Glu976Lys	missense variant	-	NC_000007.14:g.142052414G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1394181284	p.Cys978Arg	missense variant	-	NC_000007.14:g.142052420T>C	gnomAD
NCI-TCGA novel	p.Cys978Ser	missense variant	-	NC_000007.14:g.142052421G>C	NCI-TCGA
rs1389822438	p.Thr979Ala	missense variant	-	NC_000007.14:g.142052423A>G	TOPMed
rs774808565	p.Ala980Thr	missense variant	-	NC_000007.14:g.142052426G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala980Ser	missense variant	-	NC_000007.14:g.142052426G>T	NCI-TCGA
rs146202976	p.Arg981Cys	missense variant	-	NC_000007.14:g.142052429C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199504784	p.Arg981His	missense variant	-	NC_000007.14:g.142052430G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146202976	p.Arg981Cys	missense variant	-	NC_000007.14:g.142052429C>T	NCI-TCGA
rs773554487	p.Ile984Asn	missense variant	-	NC_000007.14:g.142052439T>A	ExAC,gnomAD
rs760661457	p.Trp985Cys	missense variant	-	NC_000007.14:g.142052443G>C	ExAC,gnomAD
COSM3634598	p.Glu986Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052444G>A	NCI-TCGA Cosmic
rs1160704031	p.Ala987Thr	missense variant	-	NC_000007.14:g.142052784G>A	TOPMed
rs565688553	p.Asn989Ser	missense variant	-	NC_000007.14:g.142052791A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1470247194	p.Asn989Asp	missense variant	-	NC_000007.14:g.142052790A>G	TOPMed
rs1439293104	p.Ser990Cys	missense variant	-	NC_000007.14:g.142052794C>G	gnomAD
rs1439293104	p.Ser990Phe	missense variant	-	NC_000007.14:g.142052794C>T	NCI-TCGA Cosmic
rs1439293104	p.Ser990Phe	missense variant	-	NC_000007.14:g.142052794C>T	gnomAD
NCI-TCGA novel	p.Ser990Tyr	missense variant	-	NC_000007.14:g.142052794C>A	NCI-TCGA
rs764012099	p.Ser991Pro	missense variant	-	NC_000007.14:g.142052796T>C	ExAC,TOPMed,gnomAD
rs764012099	p.Ser991Thr	missense variant	-	NC_000007.14:g.142052796T>A	ExAC,TOPMed,gnomAD
COSM3634604	p.Pro994Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052805C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe995Ile	missense variant	-	NC_000007.14:g.142052808T>A	NCI-TCGA
rs1423358565	p.Cys996Phe	missense variant	-	NC_000007.14:g.142052812G>T	gnomAD
NCI-TCGA novel	p.Cys996Ter	stop gained	-	NC_000007.14:g.142052813C>A	NCI-TCGA
NCI-TCGA novel	p.Cys996LeuPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.142052806_142052807insT	NCI-TCGA
rs1391488770	p.Tyr997Ter	stop gained	-	NC_000007.14:g.142052816T>G	TOPMed,gnomAD
rs1397790758	p.Tyr997Phe	missense variant	-	NC_000007.14:g.142052815A>T	gnomAD
rs761573383	p.Val999Phe	missense variant	-	NC_000007.14:g.142052820G>T	ExAC,gnomAD
rs1253340055	p.Val999Ala	missense variant	-	NC_000007.14:g.142052821T>C	TOPMed
rs761573383	p.Val999Ile	missense variant	-	NC_000007.14:g.142052820G>A	ExAC,gnomAD
rs761573383	p.Val999Ile	missense variant	-	NC_000007.14:g.142052820G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1374252643	p.Asn1000Ser	missense variant	-	NC_000007.14:g.142052824A>G	gnomAD
rs374732273	p.Asn1000Lys	missense variant	-	NC_000007.14:g.142052825C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750216590	p.Asp1001Asn	missense variant	-	NC_000007.14:g.142052826G>A	ExAC,TOPMed,gnomAD
rs1269993813	p.Asp1001Glu	missense variant	-	NC_000007.14:g.142052828C>A	TOPMed
rs750216590	p.Asp1001Asn	missense variant	-	NC_000007.14:g.142052826G>A	NCI-TCGA,NCI-TCGA Cosmic
rs755745000	p.Asp1001Gly	missense variant	-	NC_000007.14:g.142052827A>G	ExAC,gnomAD
rs779588141	p.Leu1002Val	missense variant	-	NC_000007.14:g.142052829C>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu1002Pro	missense variant	-	NC_000007.14:g.142052830T>C	NCI-TCGA
COSM599583	p.Ser1004Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052835T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser1004Phe	missense variant	-	NC_000007.14:g.142052836C>T	NCI-TCGA
rs1339937102	p.Val1005Leu	missense variant	-	NC_000007.14:g.142052838G>C	gnomAD
rs368535316	p.Val1005Ala	missense variant	-	NC_000007.14:g.142052839T>C	ESP,ExAC,TOPMed,gnomAD
COSM3878843	p.Ser1006Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052841A>G	NCI-TCGA Cosmic
rs1457534436	p.Ser1006Ile	missense variant	-	NC_000007.14:g.142052842G>T	gnomAD
rs372595232	p.Asp1007Asn	missense variant	-	NC_000007.14:g.142052844G>A	ESP
rs1184422107	p.Asp1007Gly	missense variant	-	NC_000007.14:g.142052845A>G	gnomAD
rs1184422107	p.Asp1007Gly	missense variant	-	NC_000007.14:g.142052845A>G	NCI-TCGA
COSM452491	p.Val1008Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052847G>T	NCI-TCGA Cosmic
rs1369336045	p.Gln1009Arg	missense variant	-	NC_000007.14:g.142052851A>G	gnomAD
rs1373499992	p.Tyr1010Cys	missense variant	-	NC_000007.14:g.142052854A>G	TOPMed
rs141712469	p.Ser1012Phe	missense variant	-	NC_000007.14:g.142052860C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141712469	p.Ser1012Cys	missense variant	-	NC_000007.14:g.142052860C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1259282185	p.His1013Gln	missense variant	-	NC_000007.14:g.142052864T>G	gnomAD
rs1172277481	p.His1013Arg	missense variant	-	NC_000007.14:g.142052863A>G	gnomAD
rs556296527	p.His1013Tyr	missense variant	-	NC_000007.14:g.142052862C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM2862158	p.Gly1014Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052866G>A	NCI-TCGA Cosmic
rs1397484459	p.Ala1015Thr	missense variant	-	NC_000007.14:g.142052868G>A	gnomAD
rs372193855	p.Ala1015Val	missense variant	-	NC_000007.14:g.142052869C>T	ESP,ExAC,TOPMed,gnomAD
COSM3634616	p.Ala1017Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052874G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp1018Ala	missense variant	-	NC_000007.14:g.142052878A>C	NCI-TCGA
rs1336988925	p.Ile1019Val	missense variant	-	NC_000007.14:g.142052880A>G	gnomAD
COSM4828873	p.Ser1020Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052884C>A	NCI-TCGA Cosmic
COSM599580	p.Ser1020Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052884C>T	NCI-TCGA Cosmic
COSM3634619	p.Lys1022Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052890A>T	NCI-TCGA Cosmic
rs759597075	p.Lys1022Thr	missense variant	-	NC_000007.14:g.142052890A>C	ExAC,TOPMed,gnomAD
rs769909883	p.Lys1022Asn	missense variant	-	NC_000007.14:g.142052891G>C	ExAC,gnomAD
rs1478782787	p.Ser1023Phe	missense variant	-	NC_000007.14:g.142052893C>T	NCI-TCGA Cosmic
rs1478782787	p.Ser1023Phe	missense variant	-	NC_000007.14:g.142052893C>T	TOPMed
rs1170318512	p.Ser1023Thr	missense variant	-	NC_000007.14:g.142052892T>A	TOPMed
rs774241019	p.Ser1024Phe	missense variant	-	NC_000007.14:g.142052896C>T	ExAC,gnomAD
rs369372605	p.Val1025Ile	missense variant	-	NC_000007.14:g.142052898G>A	ESP,ExAC,TOPMed,gnomAD
rs369372605	p.Val1025Ile	missense variant	-	NC_000007.14:g.142052898G>A	NCI-TCGA
rs879240596	p.Tyr1026His	missense variant	-	NC_000007.14:g.142052901T>C	gnomAD
rs750175325	p.Ala1027Thr	missense variant	-	NC_000007.14:g.142052904G>A	ExAC,gnomAD
rs1190814491	p.Ala1027Gly	missense variant	-	NC_000007.14:g.142052905C>G	gnomAD
rs375330398	p.Asn1028Ser	missense variant	-	NC_000007.14:g.142052908A>G	gnomAD
rs1265261649	p.Ala1029Val	missense variant	-	NC_000007.14:g.142052911C>T	gnomAD
COSM3922880	p.Pro1031Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052917C>T	NCI-TCGA Cosmic
rs753606617	p.Ser1032Tyr	missense variant	-	NC_000007.14:g.142052920C>A	ExAC,TOPMed,gnomAD
rs753606617	p.Ser1032Cys	missense variant	-	NC_000007.14:g.142052920C>G	ExAC,TOPMed,gnomAD
rs560292735	p.Thr1033Ile	missense variant	-	NC_000007.14:g.142052923C>T	1000Genomes,ExAC,gnomAD
rs187645172	p.Thr1033Ala	missense variant	-	NC_000007.14:g.142052922A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1034Thr	missense variant	-	NC_000007.14:g.142052925C>A	NCI-TCGA
rs369972042	p.Val1035Met	missense variant	-	NC_000007.14:g.142052928G>A	ESP,ExAC,TOPMed,gnomAD
rs150559219	p.Asn1036Lys	missense variant	-	NC_000007.14:g.142052933C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs564600502	p.Pro1037Thr	missense variant	-	NC_000007.14:g.142052934C>A	1000Genomes,ExAC,gnomAD
rs564600502	p.Pro1037Ser	missense variant	-	NC_000007.14:g.142052934C>T	1000Genomes,ExAC,gnomAD
rs763035134	p.Leu1038His	missense variant	-	NC_000007.14:g.142052938T>A	ExAC,TOPMed,gnomAD
rs139662456	p.Arg1039His	missense variant	-	NC_000007.14:g.142052941G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750930085	p.Arg1039Cys	missense variant	-	NC_000007.14:g.142052940C>T	ExAC,TOPMed,gnomAD
rs750930085	p.Arg1039Cys	missense variant	-	NC_000007.14:g.142052940C>T	NCI-TCGA,NCI-TCGA Cosmic
rs139662456	p.Arg1039Leu	missense variant	-	NC_000007.14:g.142052941G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1285241391	p.Asp1041His	missense variant	-	NC_000007.14:g.142052946G>C	gnomAD
rs766139452	p.Thr1043Ser	missense variant	-	NC_000007.14:g.142052952A>T	ExAC,gnomAD
rs1232791756	p.Thr1043Ile	missense variant	-	NC_000007.14:g.142052953C>T	TOPMed,gnomAD
rs766139452	p.Thr1043Ser	missense variant	-	NC_000007.14:g.142052952A>T	NCI-TCGA,NCI-TCGA Cosmic
rs752471950	p.Tyr1044Ter	stop gained	-	NC_000007.14:g.142052957C>G	ExAC,TOPMed,gnomAD
rs376565637	p.His1045Pro	missense variant	-	NC_000007.14:g.142052959A>C	ESP,ExAC,TOPMed,gnomAD
rs376565637	p.His1045Arg	missense variant	-	NC_000007.14:g.142052959A>G	ESP,ExAC,TOPMed,gnomAD
rs1217310491	p.Lys1046Asn	missense variant	-	NC_000007.14:g.142052963G>C	TOPMed,gnomAD
rs752184441	p.Glu1048Asp	missense variant	-	NC_000007.14:g.142052969A>C	ExAC,gnomAD
rs1426658697	p.Met1049Thr	missense variant	-	NC_000007.14:g.142052971T>C	gnomAD
rs761137030	p.Met1049Leu	missense variant	-	NC_000007.14:g.142052970A>T	ExAC,TOPMed,gnomAD
rs1322413551	p.Met1049Ile	missense variant	-	NC_000007.14:g.142052972G>C	gnomAD
rs752054058	p.Gln1051Arg	missense variant	-	NC_000007.14:g.142052977A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln1051MetAlaIle	insertion	-	NC_000007.14:g.142052978_142052979insATGGCCATT	NCI-TCGA
NCI-TCGA novel	p.Gln1051HisPheSerTerUnk	frameshift	-	NC_000007.14:g.142052977_142052978insCATT	NCI-TCGA
rs1340327741	p.Phe1052Leu	missense variant	-	NC_000007.14:g.142052981C>G	TOPMed
rs757610053	p.Lys1053Arg	missense variant	-	NC_000007.14:g.142052983A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys1053Met	missense variant	-	NC_000007.14:g.142052983A>T	NCI-TCGA
rs1379444864	p.Ile1054Val	missense variant	-	NC_000007.14:g.142054754A>G	gnomAD
rs1444833248	p.Tyr1055Asn	missense variant	-	NC_000007.14:g.142054757T>A	gnomAD
rs750720862	p.Tyr1055Ser	missense variant	-	NC_000007.14:g.142054758A>C	ExAC,gnomAD
rs756540037	p.Asp1056Glu	missense variant	-	NC_000007.14:g.142054762T>A	ExAC,gnomAD
COSM3634634	p.Asp1056Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142054760G>A	NCI-TCGA Cosmic
rs1219135693	p.Asp1056Tyr	missense variant	-	NC_000007.14:g.142054760G>T	TOPMed
rs780243925	p.Pro1057Ser	missense variant	-	NC_000007.14:g.142054763C>T	ExAC,TOPMed,gnomAD
rs1280104854	p.Pro1057Arg	missense variant	-	NC_000007.14:g.142054764C>G	TOPMed
rs780243925	p.Pro1057Ser	missense variant	-	NC_000007.14:g.142054763C>T	NCI-TCGA,NCI-TCGA Cosmic
rs374510544	p.Asn1058Lys	missense variant	-	NC_000007.14:g.142054768C>A	ESP,TOPMed,gnomAD
rs1232488183	p.Asn1058Asp	missense variant	-	NC_000007.14:g.142054766A>G	TOPMed
rs371468966	p.Lys1059Asn	missense variant	-	NC_000007.14:g.142054771G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs371468966	p.Lys1059Asn	missense variant	-	NC_000007.14:g.142054771G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs544377960	p.Asn1060Ser	missense variant	-	NC_000007.14:g.142054773A>G	ExAC,TOPMed,gnomAD
rs1458860849	p.Arg1061Gln	missense variant	-	NC_000007.14:g.142054776G>A	NCI-TCGA Cosmic
rs533260845	p.Arg1061Trp	missense variant	-	NC_000007.14:g.142054775C>T	ExAC,TOPMed,gnomAD
rs1458860849	p.Arg1061Gln	missense variant	-	NC_000007.14:g.142054776G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Arg1061Leu	missense variant	-	NC_000007.14:g.142054776G>T	NCI-TCGA
rs187047261	p.Tyr1062His	missense variant	-	NC_000007.14:g.142054778T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776774087	p.Glu1063Asp	missense variant	-	NC_000007.14:g.142054783A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1063Ala	missense variant	-	NC_000007.14:g.142054782A>C	NCI-TCGA
rs745642247	p.Val1064Ile	missense variant	-	NC_000007.14:g.142054784G>A	ExAC,gnomAD
rs1411602274	p.Val1064Ala	missense variant	-	NC_000007.14:g.142054785T>C	TOPMed,gnomAD
COSM4393919	p.Pro1065Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142054788C>T	NCI-TCGA Cosmic
rs1423141462	p.Pro1065Ser	missense variant	-	NC_000007.14:g.142054787C>T	gnomAD
rs372065250	p.Pro1067Leu	missense variant	-	NC_000007.14:g.142054794C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1067Ser	missense variant	-	NC_000007.14:g.142054793C>T	NCI-TCGA
rs1402638772	p.Asn1069Lys	missense variant	-	NC_000007.14:g.142054801C>A	TOPMed
NCI-TCGA novel	p.Pro1071Leu	missense variant	-	NC_000007.14:g.142054806C>T	NCI-TCGA
NCI-TCGA novel	p.Pro1071Ser	missense variant	-	NC_000007.14:g.142054805C>T	NCI-TCGA
rs566877632	p.Met1073Val	missense variant	-	NC_000007.14:g.142054811A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs762472000	p.Pro1074Gln	missense variant	-	NC_000007.14:g.142054815C>A	ExAC,TOPMed,gnomAD
rs762472000	p.Pro1074Leu	missense variant	-	NC_000007.14:g.142054815C>T	ExAC,TOPMed,gnomAD
COSM4487744	p.Ser1075Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142054818C>T	NCI-TCGA Cosmic
rs768376974	p.Ser1075Pro	missense variant	-	NC_000007.14:g.142054817T>C	ExAC,gnomAD
rs1195883873	p.Thr1077Ser	missense variant	-	NC_000007.14:g.142054823A>T	TOPMed
NCI-TCGA novel	p.Thr1077Pro	missense variant	-	NC_000007.14:g.142054823A>C	NCI-TCGA
COSM5406751	p.Pro1078Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142054827C>T	NCI-TCGA Cosmic
rs1215656720	p.Pro1078His	missense variant	-	NC_000007.14:g.142054827C>A	gnomAD
rs768009854	p.Pro1078Ser	missense variant	-	NC_000007.14:g.142054826C>T	NCI-TCGA,NCI-TCGA Cosmic
rs768009854	p.Pro1078Ser	missense variant	-	NC_000007.14:g.142054826C>T	ExAC,gnomAD
rs145885349	p.Glu1079Gln	missense variant	-	NC_000007.14:g.142054829G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145885349	p.Glu1079Lys	missense variant	-	NC_000007.14:g.142054829G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201314573	p.Gln1081Glu	missense variant	-	NC_000007.14:g.142054835C>G	ExAC,TOPMed,gnomAD
rs1196166927	p.Leu1082His	missense variant	-	NC_000007.14:g.142054839T>A	gnomAD
rs1444556442	p.Leu1082Val	missense variant	-	NC_000007.14:g.142054838C>G	TOPMed
rs754264280	p.Tyr1083His	missense variant	-	NC_000007.14:g.142054841T>C	ExAC,gnomAD
rs779196441	p.Tyr1083Ter	stop gained	-	NC_000007.14:g.142054843T>A	ExAC,gnomAD
rs755093530	p.Tyr1083Cys	missense variant	-	NC_000007.14:g.142054842A>G	ExAC,TOPMed,gnomAD
rs1235516893	p.Asp1084Val	missense variant	-	NC_000007.14:g.142054845A>T	gnomAD
COSM1086479	p.Lys1088Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142054857A>C	NCI-TCGA Cosmic
rs369315124	p.Lys1089Glu	missense variant	-	NC_000007.14:g.142054859A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1089Ter	stop gained	-	NC_000007.14:g.142054859A>T	NCI-TCGA
COSM2862204	p.Pro1091Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142054866C>T	NCI-TCGA Cosmic
rs769882031	p.Phe1092Ser	missense variant	-	NC_000007.14:g.142054869T>C	ExAC,gnomAD
rs545704228	p.Phe1092Leu	missense variant	-	NC_000007.14:g.142054868T>C	1000Genomes,ExAC,gnomAD
rs779664504	p.Gly1093Glu	missense variant	-	NC_000007.14:g.142054872G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly1093Val	missense variant	-	NC_000007.14:g.142054872G>T	NCI-TCGA
rs1358963015	p.Ile1094Thr	missense variant	-	NC_000007.14:g.142054875T>C	TOPMed,gnomAD
COSM1086483	p.Glu1095Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142054879A>C	NCI-TCGA Cosmic
rs1431849178	p.Ile1096Ser	missense variant	-	NC_000007.14:g.142054881T>G	gnomAD
rs1431849178	p.Ile1096Ser	missense variant	-	NC_000007.14:g.142054881T>G	NCI-TCGA
rs749121609	p.Arg1097Cys	missense variant	-	NC_000007.14:g.142054883C>T	ExAC,gnomAD
rs768127980	p.Arg1097His	missense variant	-	NC_000007.14:g.142054884G>A	ExAC,gnomAD
rs768127980	p.Arg1097His	missense variant	-	NC_000007.14:g.142054884G>A	NCI-TCGA
rs749121609	p.Arg1097Cys	missense variant	-	NC_000007.14:g.142054883C>T	NCI-TCGA,NCI-TCGA Cosmic
rs761301600	p.Arg1098Gln	missense variant	-	NC_000007.14:g.142054887G>A	ExAC,TOPMed,gnomAD
rs199990294	p.Arg1098Trp	missense variant	-	NC_000007.14:g.142054886C>T	1000Genomes,ESP,ExAC,TOPMed
rs761301600	p.Arg1098Gln	missense variant	-	NC_000007.14:g.142054887G>A	NCI-TCGA,NCI-TCGA Cosmic
rs199990294	p.Arg1098Trp	missense variant	-	NC_000007.14:g.142054886C>T	NCI-TCGA,NCI-TCGA Cosmic
rs199810911	p.Lys1099Asn	missense variant	-	NC_000007.14:g.142054891G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771622663	p.Lys1099Arg	missense variant	-	NC_000007.14:g.142054890A>G	ExAC
rs201221721	p.Thr1101Ala	missense variant	-	NC_000007.14:g.142054895A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201221721	p.Thr1101Ser	missense variant	-	NC_000007.14:g.142054895A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr1101Lys	missense variant	-	NC_000007.14:g.142054896C>A	NCI-TCGA
COSM6176384	p.Gly1102Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142054898G>T	NCI-TCGA Cosmic
rs754080524	p.Gly1102Asp	missense variant	-	NC_000007.14:g.142054899G>A	ExAC,gnomAD
rs754080524	p.Gly1102Asp	missense variant	-	NC_000007.14:g.142054899G>A	NCI-TCGA
rs760008474	p.Thr1103Ile	missense variant	-	NC_000007.14:g.142054902C>T	ExAC,gnomAD
rs765361066	p.Ile1104Val	missense variant	-	NC_000007.14:g.142054904A>G	ExAC,gnomAD
rs1310924245	p.Trp1106Ser	missense variant	-	NC_000007.14:g.142055560G>C	gnomAD
NCI-TCGA novel	p.Trp1106Ter	stop gained	-	NC_000007.14:g.142055561G>A	NCI-TCGA
COSM3634652	p.Asp1107Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142055562G>A	NCI-TCGA Cosmic
rs747964254	p.Asp1107Glu	missense variant	-	NC_000007.14:g.142055564C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser1108Phe	missense variant	-	NC_000007.14:g.142055566C>T	NCI-TCGA
rs757974729	p.Ser1108Cys	missense variant	-	NC_000007.14:g.142055566C>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu1110His	missense variant	-	NC_000007.14:g.142055572T>A	NCI-TCGA
rs1301234862	p.Phe1113Val	missense variant	-	NC_000007.14:g.142055580T>G	gnomAD
rs746521064	p.Phe1113Ser	missense variant	-	NC_000007.14:g.142055581T>C	ExAC,gnomAD
rs371426689	p.Phe1113Leu	missense variant	-	NC_000007.14:g.142055582T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs776984571	p.Thr1114Ile	missense variant	-	NC_000007.14:g.142055584C>T	ExAC,TOPMed,gnomAD
rs1351716425	p.Phe1115Leu	missense variant	-	NC_000007.14:g.142055588C>A	TOPMed,gnomAD
rs3024261	p.Ser1116Ile	missense variant	-	NC_000007.14:g.142055590G>T	ESP,ExAC,TOPMed,gnomAD
rs746338647	p.Ser1116Gly	missense variant	-	NC_000007.14:g.142055589A>G	ExAC,gnomAD
rs3024261	p.Ser1116Thr	missense variant	-	NC_000007.14:g.142055590G>C	ESP,ExAC,TOPMed,gnomAD
rs3024261	p.Ser1116Asn	missense variant	-	NC_000007.14:g.142055590G>A	ESP,ExAC,TOPMed,gnomAD
rs555175389	p.Met1118Thr	missense variant	-	NC_000007.14:g.142055596T>C	1000Genomes,TOPMed,gnomAD
COSM271033	p.Met1118Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142055597G>C	NCI-TCGA Cosmic
rs763424236	p.Met1118Val	missense variant	-	NC_000007.14:g.142055595A>G	NCI-TCGA
rs763424236	p.Met1118Val	missense variant	-	NC_000007.14:g.142055595A>G	ExAC,TOPMed,gnomAD
rs1370750446	p.Phe1119Val	missense variant	-	NC_000007.14:g.142055598T>G	gnomAD
NCI-TCGA novel	p.Phe1119Ser	missense variant	-	NC_000007.14:g.142055599T>C	NCI-TCGA
rs370241545	p.Arg1121His	missense variant	-	NC_000007.14:g.142055605G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370241545	p.Arg1121Leu	missense variant	-	NC_000007.14:g.142055605G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764397440	p.Arg1121Cys	missense variant	-	NC_000007.14:g.142055604C>T	ExAC,TOPMed,gnomAD
rs370241545	p.Arg1121His	missense variant	-	NC_000007.14:g.142055605G>A	NCI-TCGA
COSM1448719	p.Ser1123Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142055611C>A	NCI-TCGA Cosmic
rs750489666	p.Thr1124Ala	missense variant	-	NC_000007.14:g.142055613A>G	ExAC,gnomAD
rs758260512	p.Arg1125His	missense variant	-	NC_000007.14:g.142055617G>A	ExAC,gnomAD
rs374214973	p.Arg1125Ser	missense variant	-	NC_000007.14:g.142055616C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374214973	p.Arg1125Gly	missense variant	-	NC_000007.14:g.142055616C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374214973	p.Arg1125Cys	missense variant	-	NC_000007.14:g.142055616C>T	NCI-TCGA,NCI-TCGA Cosmic
rs374214973	p.Arg1125Cys	missense variant	-	NC_000007.14:g.142055616C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1126Ile	missense variant	-	NC_000007.14:g.142055619C>A	NCI-TCGA
COSM229081	p.Pro1127Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142055622C>T	NCI-TCGA Cosmic
COSM3634662	p.Pro1127Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142055623C>T	NCI-TCGA Cosmic
rs371387433	p.Lys1129Glu	missense variant	-	NC_000007.14:g.142055628A>G	ESP,TOPMed,gnomAD
rs1231689388	p.Leu1131Arg	missense variant	-	NC_000007.14:g.142055635T>G	TOPMed
rs1283465913	p.Tyr1132Cys	missense variant	-	NC_000007.14:g.142055638A>G	TOPMed,gnomAD
rs756884470	p.Gly1133Ser	missense variant	-	NC_000007.14:g.142055640G>A	ExAC,gnomAD
rs994686231	p.Gly1133Val	missense variant	-	NC_000007.14:g.142055641G>T	TOPMed,gnomAD
rs1299819756	p.Gly1135Arg	missense variant	-	NC_000007.14:g.142055646G>A	TOPMed
rs1299819756	p.Gly1135Arg	missense variant	-	NC_000007.14:g.142055646G>A	NCI-TCGA Cosmic
rs866353991	p.Glu1136Lys	missense variant	-	NC_000007.14:g.142055649G>A	-
rs866353991	p.Glu1136Lys	missense variant	-	NC_000007.14:g.142055649G>A	NCI-TCGA Cosmic
rs368334063	p.Thr1137Ser	missense variant	-	NC_000007.14:g.142055653C>G	ESP
rs745375696	p.Glu1138Asp	missense variant	-	NC_000007.14:g.142055657G>T	ExAC,gnomAD
COSM3832102	p.Arg1140Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142055662G>T	NCI-TCGA Cosmic
rs185758556	p.Arg1140Thr	missense variant	-	NC_000007.14:g.142055662G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs185758556	p.Arg1140Lys	missense variant	-	NC_000007.14:g.142055662G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM6108836	p.Ser1141Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142055665C>A	NCI-TCGA Cosmic
rs1199615922	p.Arg1143Ser	missense variant	-	NC_000007.14:g.142055672G>C	TOPMed
rs769181346	p.Asp1145Gly	missense variant	-	NC_000007.14:g.142055677A>G	ExAC,gnomAD
COSM3634680	p.Trp1148Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.142055687G>A	NCI-TCGA Cosmic
rs1261220607	p.Trp1148Leu	missense variant	-	NC_000007.14:g.142055686G>T	TOPMed
rs1278329906	p.Trp1151Ter	stop gained	-	NC_000007.14:g.142055695G>A	TOPMed
rs772211918	p.Gly1152Ala	missense variant	-	NC_000007.14:g.142055698G>C	ExAC,TOPMed,gnomAD
rs575188237	p.Met1153Ile	missense variant	-	NC_000007.14:g.142055702G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs190285241	p.Arg1156Leu	missense variant	-	NC_000007.14:g.142055710G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs779349942	p.Arg1156Ter	stop gained	-	NC_000007.14:g.142055709C>T	NCI-TCGA
rs779349942	p.Arg1156Ter	stop gained	-	NC_000007.14:g.142055709C>T	ExAC,TOPMed,gnomAD
rs190285241	p.Arg1156Gln	missense variant	-	NC_000007.14:g.142055710G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs763830175	p.Asp1157His	missense variant	-	NC_000007.14:g.142055712G>C	ExAC,gnomAD
rs1401978899	p.Asp1157Glu	missense variant	-	NC_000007.14:g.142055714C>A	gnomAD
rs751343957	p.Gln1158Ter	stop gained	-	NC_000007.14:g.142055715C>T	ExAC,gnomAD
rs751343957	p.Gln1158Lys	missense variant	-	NC_000007.14:g.142055715C>A	ExAC,gnomAD
rs964230745	p.Pro1159Thr	missense variant	-	NC_000007.14:g.142055718C>A	TOPMed
rs964230745	p.Pro1159Ser	missense variant	-	NC_000007.14:g.142055718C>T	TOPMed
NCI-TCGA novel	p.Pro1159Leu	missense variant	-	NC_000007.14:g.142055719C>T	NCI-TCGA
COSM6108833	p.Pro1160Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142055721C>A	NCI-TCGA Cosmic
rs756869162	p.Pro1160Ser	missense variant	-	NC_000007.14:g.142055721C>T	ExAC,gnomAD
rs1257913428	p.Gly1161Glu	missense variant	-	NC_000007.14:g.142055725G>A	gnomAD
rs1257913428	p.Gly1161Val	missense variant	-	NC_000007.14:g.142055725G>T	gnomAD
rs1257913428	p.Gly1161Glu	missense variant	-	NC_000007.14:g.142055725G>A	NCI-TCGA
rs558774330	p.Lys1163Glu	missense variant	-	NC_000007.14:g.142056003A>G	1000Genomes,ExAC,gnomAD
rs200851430	p.Lys1163Arg	missense variant	-	NC_000007.14:g.142056004A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1164Met	missense variant	-	NC_000007.14:g.142056007A>T	NCI-TCGA
rs747153106	p.Asn1165Tyr	missense variant	-	NC_000007.14:g.142056009A>T	ExAC,gnomAD
rs866572586	p.Ser1166Phe	missense variant	-	NC_000007.14:g.142056013C>T	NCI-TCGA Cosmic
rs866572586	p.Ser1166Phe	missense variant	-	NC_000007.14:g.142056013C>T	-
rs537830668	p.Tyr1167His	missense variant	-	NC_000007.14:g.142056015T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs745962488	p.Tyr1167Cys	missense variant	-	NC_000007.14:g.142056016A>G	ExAC,TOPMed,gnomAD
rs537830668	p.Tyr1167Asn	missense variant	-	NC_000007.14:g.142056015T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1440433997	p.Gly1168Val	missense variant	-	NC_000007.14:g.142056019G>T	gnomAD
rs1310192819	p.Val1169Ile	missense variant	-	NC_000007.14:g.142056021G>A	TOPMed,gnomAD
rs768568411	p.His1170Tyr	missense variant	-	NC_000007.14:g.142056024C>T	ExAC,gnomAD
rs774221928	p.His1170Pro	missense variant	-	NC_000007.14:g.142056025A>C	ExAC,TOPMed,gnomAD
rs1386283834	p.Pro1171Thr	missense variant	-	NC_000007.14:g.142056027C>A	TOPMed
rs1309197083	p.Pro1171Leu	missense variant	-	NC_000007.14:g.142056028C>T	gnomAD
rs1221707062	p.Tyr1173Cys	missense variant	-	NC_000007.14:g.142056034A>G	gnomAD
rs1487334316	p.Gly1175Arg	missense variant	-	NC_000007.14:g.142056039G>A	TOPMed,gnomAD
rs761637327	p.Gly1175Glu	missense variant	-	NC_000007.14:g.142056040G>A	ExAC,gnomAD
rs761637327	p.Gly1175Ala	missense variant	-	NC_000007.14:g.142056040G>C	ExAC,gnomAD
rs773079770	p.Leu1176Met	missense variant	-	NC_000007.14:g.142056042C>A	ExAC,TOPMed,gnomAD
rs752271004	p.Glu1178Lys	missense variant	-	NC_000007.14:g.142056048G>A	gnomAD
rs766130699	p.Glu1178Asp	missense variant	-	NC_000007.14:g.142056050G>C	ExAC,gnomAD
rs200989242	p.Asp1179Glu	missense variant	-	NC_000007.14:g.142056053C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201783917	p.Gly1180Cys	missense variant	-	NC_000007.14:g.142056054G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201783917	p.Gly1180Ser	missense variant	-	NC_000007.14:g.142056054G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1180Arg	missense variant	-	NC_000007.14:g.142056054G>C	NCI-TCGA
rs201783917	p.Gly1180Ser	missense variant	-	NC_000007.14:g.142056054G>A	NCI-TCGA
rs753196720	p.Ser1181Arg	missense variant	-	NC_000007.14:g.142056059T>A	ExAC,gnomAD
rs753196720	p.Ser1181Arg	missense variant	-	NC_000007.14:g.142056059T>G	ExAC,gnomAD
rs1223365850	p.Leu1188Pro	missense variant	-	NC_000007.14:g.142056079T>C	TOPMed
rs1380612816	p.Ser1190Asn	missense variant	-	NC_000007.14:g.142056085G>A	NCI-TCGA
rs1380612816	p.Ser1190Asn	missense variant	-	NC_000007.14:g.142056085G>A	gnomAD
NCI-TCGA novel	p.Ser1190Arg	missense variant	-	NC_000007.14:g.142056084A>C	NCI-TCGA
rs756381544	p.Thr1196Met	missense variant	-	NC_000007.14:g.142056836C>T	ExAC,gnomAD
rs756381544	p.Thr1196Met	missense variant	-	NC_000007.14:g.142056836C>T	NCI-TCGA
COSM3634687	p.Phe1197Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142056840C>G	NCI-TCGA Cosmic
COSM3634690	p.Gln1198Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.142056841C>T	NCI-TCGA Cosmic
COSM1496580	p.Pro1199Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142056845C>T	NCI-TCGA Cosmic
rs200314253	p.Pro1201Ser	missense variant	-	NC_000007.14:g.142056850C>T	ESP,ExAC,TOPMed,gnomAD
rs1300527797	p.Pro1201Leu	missense variant	-	NC_000007.14:g.142056851C>T	gnomAD
rs1341843312	p.Leu1203Val	missense variant	-	NC_000007.14:g.142056856T>G	gnomAD
NCI-TCGA novel	p.Thr1204Ala	missense variant	-	NC_000007.14:g.142056859A>G	NCI-TCGA
NCI-TCGA novel	p.Thr1204Ile	missense variant	-	NC_000007.14:g.142056860C>T	NCI-TCGA
rs1269255447	p.Tyr1205Cys	missense variant	-	NC_000007.14:g.142056863A>G	gnomAD
rs777913178	p.Tyr1205Asn	missense variant	-	NC_000007.14:g.142056862T>A	ExAC,gnomAD
rs780595542	p.Arg1206Leu	missense variant	-	NC_000007.14:g.142056866G>T	ExAC,TOPMed,gnomAD
rs115080419	p.Arg1206Cys	missense variant	-	NC_000007.14:g.142056865C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780595542	p.Arg1206His	missense variant	-	NC_000007.14:g.142056866G>A	ExAC,TOPMed,gnomAD
rs375460909	p.Thr1207Asn	missense variant	-	NC_000007.14:g.142056869C>A	ESP,ExAC,gnomAD
rs1217261323	p.Thr1208Ala	missense variant	-	NC_000007.14:g.142056871A>G	gnomAD
NCI-TCGA novel	p.Gly1210GluPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.142056874G>-	NCI-TCGA
NCI-TCGA novel	p.Gly1210Glu	missense variant	-	NC_000007.14:g.142056878G>A	NCI-TCGA
rs774806012	p.Val1211Leu	missense variant	-	NC_000007.14:g.142056880G>C	ExAC,TOPMed,gnomAD
rs1192499432	p.Leu1212Pro	missense variant	-	NC_000007.14:g.142056884T>C	gnomAD
NCI-TCGA novel	p.Asp1213Asn	missense variant	-	NC_000007.14:g.142056886G>A	NCI-TCGA
rs866798528	p.Phe1214Leu	missense variant	-	NC_000007.14:g.142056891T>G	TOPMed,gnomAD
rs764504567	p.Val1216Met	missense variant	-	NC_000007.14:g.142056895G>A	ExAC,gnomAD
rs752102018	p.Leu1218Phe	missense variant	-	NC_000007.14:g.142056903G>C	ExAC,TOPMed
rs202179894	p.Gly1219Glu	missense variant	-	NC_000007.14:g.142056905G>A	ESP,ExAC,TOPMed,gnomAD
rs200326465	p.Pro1220Arg	missense variant	-	NC_000007.14:g.142056908C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200326465	p.Pro1220Leu	missense variant	-	NC_000007.14:g.142056908C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200326465	p.Pro1220Leu	missense variant	-	NC_000007.14:g.142056908C>T	NCI-TCGA
COSM3634693	p.Pro1222Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142056913C>T	NCI-TCGA Cosmic
rs768217462	p.Pro1222Thr	missense variant	-	NC_000007.14:g.142056913C>A	ExAC,TOPMed,gnomAD
rs755147832	p.Glu1223Lys	missense variant	-	NC_000007.14:g.142056916G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu1223Gly	missense variant	-	NC_000007.14:g.142056917A>G	NCI-TCGA
rs1248114304	p.Leu1224Arg	missense variant	-	NC_000007.14:g.142056920T>G	TOPMed
rs777818988	p.Val1225Leu	missense variant	-	NC_000007.14:g.142056922G>C	ExAC,TOPMed,gnomAD
rs556277836	p.Thr1226Ile	missense variant	-	NC_000007.14:g.142056926C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs374194991	p.Gln1228Arg	missense variant	-	NC_000007.14:g.142056932A>G	ESP,ExAC,TOPMed,gnomAD
rs1057407765	p.Tyr1229His	missense variant	-	NC_000007.14:g.142056934T>C	TOPMed,gnomAD
rs1465806339	p.Gly1234Ala	missense variant	-	NC_000007.14:g.142058210G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gly1234Val	missense variant	-	NC_000007.14:g.142058210G>T	NCI-TCGA
COSM4395353	p.Arg1235Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142058213G>T	NCI-TCGA Cosmic
rs372381068	p.Arg1235Trp	missense variant	-	NC_000007.14:g.142058212C>T	ESP,TOPMed,gnomAD
rs772551734	p.Arg1235Gln	missense variant	-	NC_000007.14:g.142058213G>A	ExAC,TOPMed,gnomAD
COSM6108830	p.Pro1236Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142058216C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro1236LeuPheSerTerUnk	frameshift	-	NC_000007.14:g.142058213G>-	NCI-TCGA
NCI-TCGA novel	p.Pro1236His	missense variant	-	NC_000007.14:g.142058216C>A	NCI-TCGA
rs773834182	p.Val1237Met	missense variant	-	NC_000007.14:g.142058218G>A	ExAC,gnomAD
rs1426043027	p.Met1238Ile	missense variant	-	NC_000007.14:g.142058223G>C	gnomAD
rs760911985	p.Met1238Thr	missense variant	-	NC_000007.14:g.142058222T>C	ExAC,gnomAD
NCI-TCGA novel	p.Val1239Ala	missense variant	-	NC_000007.14:g.142058225T>C	NCI-TCGA
COSM3634699	p.Pro1240Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142058228C>G	NCI-TCGA Cosmic
rs776894832	p.Pro1240Leu	missense variant	-	NC_000007.14:g.142058228C>T	ExAC,gnomAD
rs766812635	p.Pro1240Ser	missense variant	-	NC_000007.14:g.142058227C>T	ExAC,gnomAD
rs766812635	p.Pro1240Ser	missense variant	-	NC_000007.14:g.142058227C>T	NCI-TCGA,NCI-TCGA Cosmic
rs759740339	p.Tyr1241Ter	stop gained	-	NC_000007.14:g.142058232C>G	ExAC,gnomAD
rs1220708491	p.Tyr1241Asp	missense variant	-	NC_000007.14:g.142058230T>G	gnomAD
NCI-TCGA novel	p.Tyr1241His	missense variant	-	NC_000007.14:g.142058230T>C	NCI-TCGA
COSM1448728	p.Trp1242Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142058234G>T	NCI-TCGA Cosmic
COSM230610	p.Trp1242Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.142058235G>A	NCI-TCGA Cosmic
COSM1086499	p.Leu1244Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142058239T>A	NCI-TCGA Cosmic
rs765574900	p.Gly1245Arg	missense variant	-	NC_000007.14:g.142058242G>C	ExAC,gnomAD
rs777631001	p.Phe1246Ser	missense variant	-	NC_000007.14:g.142058246T>C	gnomAD
rs767531660	p.Cys1249Gly	missense variant	-	NC_000007.14:g.142058254T>G	ExAC,gnomAD
NCI-TCGA novel	p.Cys1249Tyr	missense variant	-	NC_000007.14:g.142058255G>A	NCI-TCGA
COSM3634705	p.Arg1250Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142058258G>T	NCI-TCGA Cosmic
rs377213841	p.Arg1250Gly	missense variant	-	NC_000007.14:g.142058257C>G	ESP,ExAC,TOPMed,gnomAD
rs756029993	p.Arg1250His	missense variant	-	NC_000007.14:g.142058258G>A	ExAC,TOPMed,gnomAD
rs377213841	p.Arg1250Cys	missense variant	-	NC_000007.14:g.142058257C>T	ESP,ExAC,TOPMed,gnomAD
rs756029993	p.Arg1250His	missense variant	-	NC_000007.14:g.142058258G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1444128045	p.Tyr1251Ter	stop gained	-	NC_000007.14:g.142058262T>G	TOPMed
rs779857945	p.Tyr1251Cys	missense variant	-	NC_000007.14:g.142058261A>G	ExAC,TOPMed,gnomAD
rs1160691795	p.Gly1252Asp	missense variant	-	NC_000007.14:g.142058264G>A	gnomAD
rs1160691795	p.Gly1252Asp	missense variant	-	NC_000007.14:g.142058264G>A	NCI-TCGA
rs749039626	p.Tyr1253Ter	stop gained	-	NC_000007.14:g.142058268C>A	ExAC,gnomAD
COSM1086503	p.Gln1254His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142058271G>T	NCI-TCGA Cosmic
rs778593501	p.Gln1254Arg	missense variant	-	NC_000007.14:g.142058270A>G	ExAC,gnomAD
rs747649207	p.Gln1254His	missense variant	-	NC_000007.14:g.142058271G>C	ExAC,gnomAD
rs754566758	p.Gln1254Glu	missense variant	-	NC_000007.14:g.142058269C>G	ExAC,TOPMed,gnomAD
rs771606438	p.Asn1255Asp	missense variant	-	NC_000007.14:g.142058272A>G	ExAC,gnomAD
rs2961078	p.Asn1255Lys	missense variant	-	NC_000007.14:g.142058274T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1483665766	p.Asp1256Asn	missense variant	-	NC_000007.14:g.142058275G>A	NCI-TCGA
rs1483665766	p.Asp1256Asn	missense variant	-	NC_000007.14:g.142058275G>A	TOPMed
rs1341213814	p.Ser1257Cys	missense variant	-	NC_000007.14:g.142058279C>G	gnomAD
rs747497594	p.Glu1258Val	missense variant	-	NC_000007.14:g.142058282A>T	ExAC,TOPMed,gnomAD
rs111374090	p.Ala1260Thr	missense variant	-	NC_000007.14:g.142058287G>A	NCI-TCGA
rs111374090	p.Ala1260Ser	missense variant	-	NC_000007.14:g.142058287G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs111374090	p.Ala1260Thr	missense variant	-	NC_000007.14:g.142058287G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1245848440	p.Ser1261Gly	missense variant	-	NC_000007.14:g.142058290A>G	TOPMed
rs760039586	p.Tyr1263Phe	missense variant	-	NC_000007.14:g.142058297A>T	ExAC,TOPMed,gnomAD
rs770140228	p.Asp1264Gly	missense variant	-	NC_000007.14:g.142058300A>G	ExAC,TOPMed,gnomAD
rs1396262685	p.Glu1265Val	missense variant	-	NC_000007.14:g.142058303A>T	TOPMed
COSM3374518	p.Met1266Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142058306T>C	NCI-TCGA Cosmic
rs559779417	p.Met1266Val	missense variant	-	NC_000007.14:g.142058305A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs559779417	p.Met1266Leu	missense variant	-	NC_000007.14:g.142058305A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs533240347	p.Ala1268Asp	missense variant	-	NC_000007.14:g.142058312C>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ala1268Val	missense variant	-	NC_000007.14:g.142058312C>T	NCI-TCGA
rs760592782	p.Ala1269Gly	missense variant	-	NC_000007.14:g.142058315C>G	ExAC,gnomAD
rs372400073	p.Ala1269Pro	missense variant	-	NC_000007.14:g.142058314G>C	ESP,ExAC,TOPMed
rs766241317	p.Gln1270His	missense variant	-	NC_000007.14:g.142058319G>T	ExAC,gnomAD
COSM3634711	p.Pro1272Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142058323C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro1272Leu	missense variant	-	NC_000007.14:g.142058324C>T	NCI-TCGA
rs2960758	p.Asp1274Glu	missense variant	-	NC_000007.14:g.142059474T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1255039773	p.Val1275Met	missense variant	-	NC_000007.14:g.142059475G>A	TOPMed
rs770457039	p.Gln1276Arg	missense variant	-	NC_000007.14:g.142059479A>G	ExAC,TOPMed,gnomAD
rs191199615	p.Tyr1277Cys	missense variant	-	NC_000007.14:g.142059482A>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM3778178	p.Ser1278Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.142059485C>G	NCI-TCGA Cosmic
rs1315842027	p.Ser1278Thr	missense variant	-	NC_000007.14:g.142059484T>A	gnomAD
rs146623163	p.Ser1278Leu	missense variant	-	NC_000007.14:g.142059485C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1377245295	p.Asp1279Gly	missense variant	-	NC_000007.14:g.142059488A>G	TOPMed,gnomAD
rs1274712796	p.Asp1279Asn	missense variant	-	NC_000007.14:g.142059487G>A	gnomAD
rs774503213	p.Ile1280Met	missense variant	-	NC_000007.14:g.142059492C>G	ExAC,TOPMed,gnomAD
rs748225017	p.Asp1281Asn	missense variant	-	NC_000007.14:g.142059493G>A	ExAC,TOPMed,gnomAD
rs748225017	p.Asp1281Asn	missense variant	-	NC_000007.14:g.142059493G>A	NCI-TCGA,NCI-TCGA Cosmic
rs542752170	p.Tyr1282Cys	missense variant	-	NC_000007.14:g.142059497A>G	TOPMed,gnomAD
rs759340776	p.Met1283Val	missense variant	-	NC_000007.14:g.142059499A>G	TOPMed,gnomAD
rs772089255	p.Glu1284Gln	missense variant	-	NC_000007.14:g.142059502G>C	ExAC
rs773299141	p.Arg1285Trp	missense variant	-	NC_000007.14:g.142059505C>T	ExAC,TOPMed,gnomAD
rs773299141	p.Arg1285Trp	missense variant	-	NC_000007.14:g.142059505C>T	NCI-TCGA
rs759425386	p.Arg1285Gln	missense variant	-	NC_000007.14:g.142059506G>A	ExAC,gnomAD
rs1387787225	p.Gln1286His	missense variant	-	NC_000007.14:g.142059510G>T	TOPMed
rs765176332	p.Gln1286Lys	missense variant	-	NC_000007.14:g.142059508C>A	ExAC,TOPMed,gnomAD
rs775254501	p.Leu1287Val	missense variant	-	NC_000007.14:g.142059511C>G	ExAC,gnomAD
rs762726986	p.Leu1287Arg	missense variant	-	NC_000007.14:g.142059512T>G	ExAC,gnomAD
rs1171584655	p.Asp1288Asn	missense variant	-	NC_000007.14:g.142059514G>A	gnomAD
rs1440415006	p.Asp1288Glu	missense variant	-	NC_000007.14:g.142059516C>A	gnomAD
rs763774415	p.Asp1288Gly	missense variant	-	NC_000007.14:g.142059515A>G	ExAC,gnomAD
rs1298123788	p.Phe1289Ile	missense variant	-	NC_000007.14:g.142059517T>A	gnomAD
rs770239289	p.Thr1290Ala	missense variant	-	NC_000007.14:g.142059520A>G	TOPMed,gnomAD
rs1380498230	p.Thr1290Ile	missense variant	-	NC_000007.14:g.142059521C>T	gnomAD
rs751220955	p.Leu1291Ile	missense variant	-	NC_000007.14:g.142059523C>A	ExAC,TOPMed,gnomAD
rs1294587147	p.Pro1293Ser	missense variant	-	NC_000007.14:g.142059529C>T	gnomAD
rs575918064	p.Lys1294Arg	missense variant	-	NC_000007.14:g.142059533A>G	1000Genomes
rs756956993	p.Phe1295Ser	missense variant	-	NC_000007.14:g.142059536T>C	ExAC,TOPMed,gnomAD
rs767098256	p.Ala1296Ser	missense variant	-	NC_000007.14:g.142059538G>T	ExAC,TOPMed,gnomAD
rs536696775	p.Ala1296Val	missense variant	-	NC_000007.14:g.142059539C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs767098256	p.Ala1296Thr	missense variant	-	NC_000007.14:g.142059538G>A	ExAC,TOPMed,gnomAD
rs767098256	p.Ala1296Pro	missense variant	-	NC_000007.14:g.142059538G>C	ExAC,TOPMed,gnomAD
COSM3634714	p.Gly1297Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142059542G>A	NCI-TCGA Cosmic
rs755336969	p.Gly1297Arg	missense variant	-	NC_000007.14:g.142059541G>A	ExAC,TOPMed,gnomAD
rs748265150	p.Pro1299Leu	missense variant	-	NC_000007.14:g.142059548C>T	ExAC,gnomAD
rs1340116053	p.Ala1300Pro	missense variant	-	NC_000007.14:g.142059550G>C	TOPMed
rs1255513712	p.Ile1302Val	missense variant	-	NC_000007.14:g.142059556A>G	gnomAD
rs199746207	p.Asn1303Ser	missense variant	-	NC_000007.14:g.142059560A>G	ESP,ExAC,TOPMed,gnomAD
rs769721754	p.Arg1304Pro	missense variant	-	NC_000007.14:g.142059563G>C	ExAC,TOPMed,gnomAD
rs747153890	p.Arg1304Cys	missense variant	-	NC_000007.14:g.142059562C>T	ExAC,TOPMed,gnomAD
rs769721754	p.Arg1304His	missense variant	-	NC_000007.14:g.142059563G>A	ExAC,TOPMed,gnomAD
rs769721754	p.Arg1304His	missense variant	-	NC_000007.14:g.142059563G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1310367414	p.Met1305Ile	missense variant	-	NC_000007.14:g.142059567G>A	TOPMed
COSM3698228	p.Lys1306Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142059568A>C	NCI-TCGA Cosmic
rs1170148392	p.Ala1307Asp	missense variant	-	NC_000007.14:g.142059572C>A	gnomAD
rs762791471	p.Ala1307Ser	missense variant	-	NC_000007.14:g.142059571G>T	ExAC,TOPMed,gnomAD
rs762791471	p.Ala1307Thr	missense variant	-	NC_000007.14:g.142059571G>A	ExAC,TOPMed,gnomAD
COSM6108827	p.Arg1311Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142059584G>T	NCI-TCGA Cosmic
rs573145045	p.Arg1311Trp	missense variant	-	NC_000007.14:g.142059583C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs573145045	p.Arg1311Trp	missense variant	-	NC_000007.14:g.142059583C>T	NCI-TCGA,NCI-TCGA Cosmic
rs774233528	p.Arg1311Gln	missense variant	-	NC_000007.14:g.142059584G>A	ExAC,TOPMed,gnomAD
rs1418317437	p.Ile1315Met	missense variant	-	NC_000007.14:g.142059597T>G	TOPMed
rs1247460301	p.Asp1317Gly	missense variant	-	NC_000007.14:g.142059857A>G	gnomAD
NCI-TCGA novel	p.Asp1317Asn	missense variant	-	NC_000007.14:g.142059856G>A	NCI-TCGA
COSM6176381	p.Pro1318Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142059860C>G	NCI-TCGA Cosmic
COSM3634720	p.Pro1318Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142059859C>T	NCI-TCGA Cosmic
rs1192108444	p.Pro1318Leu	missense variant	-	NC_000007.14:g.142059860C>T	gnomAD
rs1395079930	p.Ala1319Thr	missense variant	-	NC_000007.14:g.142059862G>A	gnomAD
rs761723333	p.Ser1321Pro	missense variant	-	NC_000007.14:g.142059868T>C	ExAC,gnomAD
rs1317231771	p.Glu1324Gly	missense variant	-	NC_000007.14:g.142059878A>G	gnomAD
COSM1086513	p.Gln1326Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.142059883C>T	NCI-TCGA Cosmic
rs374679841	p.Gln1326Arg	missense variant	-	NC_000007.14:g.142059884A>G	ESP,ExAC,TOPMed,gnomAD
COSM3431322	p.Pro1327His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142059887C>A	NCI-TCGA Cosmic
rs1323643098	p.Pro1327Ala	missense variant	-	NC_000007.14:g.142059886C>G	TOPMed,gnomAD
rs1323643098	p.Pro1327Thr	missense variant	-	NC_000007.14:g.142059886C>A	TOPMed,gnomAD
rs1281147281	p.Pro1329Leu	missense variant	-	NC_000007.14:g.142059893C>T	gnomAD
rs1289064654	p.Pro1329Thr	missense variant	-	NC_000007.14:g.142059892C>A	TOPMed
rs1223272580	p.Ala1330Val	missense variant	-	NC_000007.14:g.142059896C>T	gnomAD
rs765785097	p.Ala1330Thr	missense variant	-	NC_000007.14:g.142059895G>A	ExAC,gnomAD
rs372720908	p.Arg1333Gln	missense variant	-	NC_000007.14:g.142059905G>A	ESP,ExAC,TOPMed,gnomAD
rs184974986	p.Arg1333Gly	missense variant	-	NC_000007.14:g.142059904C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs184974986	p.Arg1333Trp	missense variant	-	NC_000007.14:g.142059904C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1212270440	p.Gly1334Ser	missense variant	-	NC_000007.14:g.142059907G>A	gnomAD
rs1252776260	p.Gly1334Val	missense variant	-	NC_000007.14:g.142059908G>T	gnomAD
rs757501872	p.Val1335Ala	missense variant	-	NC_000007.14:g.142059911T>C	ExAC,TOPMed,gnomAD
rs556773642	p.Val1335Met	missense variant	-	NC_000007.14:g.142059910G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Glu1336Gly	missense variant	-	NC_000007.14:g.142059914A>G	NCI-TCGA
COSM3634723	p.Asp1337Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142059916G>A	NCI-TCGA Cosmic
rs1395774348	p.Asp1338Gly	missense variant	-	NC_000007.14:g.142059920A>G	TOPMed
rs745975997	p.Val1339Ile	missense variant	-	NC_000007.14:g.142059922G>A	ExAC,TOPMed,gnomAD
rs371809571	p.Ile1341Met	missense variant	-	NC_000007.14:g.142059930C>G	ESP,ExAC,TOPMed,gnomAD
rs1418212410	p.Ile1341Val	missense variant	-	NC_000007.14:g.142059928A>G	gnomAD
NCI-TCGA novel	p.Lys1342Thr	missense variant	-	NC_000007.14:g.142059932A>C	NCI-TCGA
rs376193103	p.Pro1344Thr	missense variant	-	NC_000007.14:g.142059937C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772041393	p.Pro1344Leu	missense variant	-	NC_000007.14:g.142059938C>T	ExAC,TOPMed,gnomAD
rs773160209	p.Asp1346Glu	missense variant	-	NC_000007.14:g.142059945T>G	ExAC,TOPMed,gnomAD
rs937702346	p.Asp1346Ala	missense variant	-	NC_000007.14:g.142059944A>C	TOPMed,gnomAD
rs568844863	p.Gly1347Ter	stop gained	-	NC_000007.14:g.142059946G>T	gnomAD
rs1441650508	p.Gly1347Ala	missense variant	-	NC_000007.14:g.142059947G>C	TOPMed,gnomAD
rs568844863	p.Gly1347Arg	missense variant	-	NC_000007.14:g.142059946G>A	gnomAD
rs1441650508	p.Gly1347Glu	missense variant	-	NC_000007.14:g.142059947G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gly1347Val	missense variant	-	NC_000007.14:g.142059947G>T	NCI-TCGA
COSM3634726	p.Asp1348Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142059949G>A	NCI-TCGA Cosmic
rs909549408	p.Ile1349Val	missense variant	-	NC_000007.14:g.142059952A>G	TOPMed,gnomAD
rs1351301352	p.Ile1349Met	missense variant	-	NC_000007.14:g.142059954T>G	gnomAD
rs1357380059	p.Val1350Phe	missense variant	-	NC_000007.14:g.142059955G>T	TOPMed,gnomAD
rs1272733541	p.Trp1351Ter	stop gained	-	NC_000007.14:g.142059960G>A	gnomAD
rs1231688882	p.Trp1351Ter	stop gained	-	NC_000007.14:g.142059959G>A	TOPMed,gnomAD
rs1340523455	p.Gly1352Glu	missense variant	-	NC_000007.14:g.142059962G>A	gnomAD
rs1302981903	p.Gly1352Arg	missense variant	-	NC_000007.14:g.142059961G>C	gnomAD
rs1340523455	p.Gly1352Glu	missense variant	-	NC_000007.14:g.142059962G>A	NCI-TCGA
NCI-TCGA novel	p.Gly1352GluPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.142059959G>-	NCI-TCGA
rs368053105	p.Lys1353Asn	missense variant	-	NC_000007.14:g.142059966G>T	ExAC,gnomAD
rs1254914799	p.Val1354Ile	missense variant	-	NC_000007.14:g.142060311G>A	gnomAD
rs374999893	p.Trp1355Arg	missense variant	-	NC_000007.14:g.142060314T>C	ESP,ExAC,gnomAD
rs757127341	p.Trp1355Cys	missense variant	-	NC_000007.14:g.142060316G>C	ExAC,TOPMed,gnomAD
rs757127341	p.Trp1355Cys	missense variant	-	NC_000007.14:g.142060316G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp1355CysPheSerTerUnk	frameshift	-	NC_000007.14:g.142060315G>-	NCI-TCGA
rs1464309690	p.Pro1356Leu	missense variant	-	NC_000007.14:g.142060318C>T	gnomAD
rs780874631	p.Pro1356Thr	missense variant	-	NC_000007.14:g.142060317C>A	ExAC,gnomAD
rs1270904362	p.Phe1358Ile	missense variant	-	NC_000007.14:g.142060323T>A	TOPMed
rs866544940	p.Pro1359Ser	missense variant	-	NC_000007.14:g.142060326C>T	gnomAD
rs866544940	p.Pro1359Ser	missense variant	-	NC_000007.14:g.142060326C>T	NCI-TCGA Cosmic
COSM4833956	p.Asp1360Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142060329G>A	NCI-TCGA Cosmic
rs1197620977	p.Asp1360Ala	missense variant	-	NC_000007.14:g.142060330A>C	TOPMed
rs745498224	p.Val1361Ile	missense variant	-	NC_000007.14:g.142060332G>A	ExAC,TOPMed,gnomAD
rs1265060042	p.Val1363Met	missense variant	-	NC_000007.14:g.142060338G>A	TOPMed
rs1452489820	p.Asn1364Ser	missense variant	-	NC_000007.14:g.142060342A>G	TOPMed,gnomAD
rs1364466222	p.Ser1366Pro	missense variant	-	NC_000007.14:g.142060347T>C	gnomAD
NCI-TCGA novel	p.Ser1366Phe	missense variant	-	NC_000007.14:g.142060348C>T	NCI-TCGA
rs769336095	p.Leu1367Val	missense variant	-	NC_000007.14:g.142060350C>G	ExAC,gnomAD
rs774923569	p.Asp1368Gly	missense variant	-	NC_000007.14:g.142060354A>G	ExAC,TOPMed,gnomAD
COSM3634732	p.Trp1369Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.142060357G>A	NCI-TCGA Cosmic
rs748855446	p.Trp1369Ter	stop gained	-	NC_000007.14:g.142060358G>A	ExAC,gnomAD
rs748855446	p.Trp1369Ter	stop gained	-	NC_000007.14:g.142060358G>A	NCI-TCGA
rs1442184812	p.Asp1370Asn	missense variant	-	NC_000007.14:g.142060359G>A	gnomAD
rs774876509	p.Ser1371Arg	missense variant	-	NC_000007.14:g.142060362A>C	ExAC,gnomAD
rs193144181	p.Ser1371Arg	missense variant	-	NC_000007.14:g.142060364C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1440824754	p.Ser1371Asn	missense variant	-	NC_000007.14:g.142060363G>A	gnomAD
rs774876509	p.Ser1371Gly	missense variant	-	NC_000007.14:g.142060362A>G	ExAC,gnomAD
rs1440824754	p.Ser1371Asn	missense variant	-	NC_000007.14:g.142060363G>A	NCI-TCGA Cosmic
rs202114402	p.Gln1372Leu	missense variant	-	NC_000007.14:g.142060366A>T	1000Genomes,ExAC,gnomAD
rs202114402	p.Gln1372Arg	missense variant	-	NC_000007.14:g.142060366A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gln1372His	missense variant	-	NC_000007.14:g.142060367A>T	NCI-TCGA
rs760880173	p.Glu1374Gln	missense variant	-	NC_000007.14:g.142060371G>C	ExAC
rs1258623716	p.Glu1374Asp	missense variant	-	NC_000007.14:g.142060373G>C	gnomAD
NCI-TCGA novel	p.Glu1374Ter	stop gained	-	NC_000007.14:g.142060371G>T	NCI-TCGA
rs1475552510	p.Leu1375Pro	missense variant	-	NC_000007.14:g.142062569T>C	TOPMed,gnomAD
rs752830042	p.Leu1375Val	missense variant	-	NC_000007.14:g.142062568C>G	ExAC,gnomAD
rs1190354995	p.Tyr1376Cys	missense variant	-	NC_000007.14:g.142062572A>G	TOPMed,gnomAD
rs750232138	p.Arg1377Gln	missense variant	-	NC_000007.14:g.142062575G>A	ExAC,TOPMed,gnomAD
rs761756111	p.Arg1377Gly	missense variant	-	NC_000007.14:g.142062574C>G	ExAC,TOPMed,gnomAD
rs761756111	p.Arg1377Ter	stop gained	-	NC_000007.14:g.142062574C>T	ExAC,TOPMed,gnomAD
rs1171554490	p.Tyr1379Cys	missense variant	-	NC_000007.14:g.142062581A>G	gnomAD
rs755905439	p.Val1380Met	missense variant	-	NC_000007.14:g.142062583G>A	ExAC,TOPMed,gnomAD
rs779656630	p.Ala1381Asp	missense variant	-	NC_000007.14:g.142062587C>A	ExAC,gnomAD
rs1323169920	p.Pro1383Thr	missense variant	-	NC_000007.14:g.142062592C>A	TOPMed
rs1307893524	p.Phe1385Ile	missense variant	-	NC_000007.14:g.142062598T>A	gnomAD
rs1369437143	p.Phe1386Leu	missense variant	-	NC_000007.14:g.142062603C>G	gnomAD
NCI-TCGA novel	p.Phe1386Val	missense variant	-	NC_000007.14:g.142062601T>G	NCI-TCGA
rs368560642	p.Arg1387His	missense variant	-	NC_000007.14:g.142062605G>A	ESP,ExAC,TOPMed,gnomAD
rs753437264	p.Arg1387Cys	missense variant	-	NC_000007.14:g.142062604C>T	ExAC,TOPMed,gnomAD
rs368560642	p.Arg1387His	missense variant	-	NC_000007.14:g.142062605G>A	NCI-TCGA,NCI-TCGA Cosmic
rs753437264	p.Arg1387Cys	missense variant	-	NC_000007.14:g.142062604C>T	NCI-TCGA,NCI-TCGA Cosmic
rs778323561	p.Ser1389Pro	missense variant	-	NC_000007.14:g.142062610T>C	ExAC,gnomAD
rs1333106965	p.Ser1389Leu	missense variant	-	NC_000007.14:g.142062611C>T	TOPMed
rs747625145	p.Thr1390Asn	missense variant	-	NC_000007.14:g.142062614C>A	ExAC,TOPMed,gnomAD
rs747625145	p.Thr1390Ile	missense variant	-	NC_000007.14:g.142062614C>T	ExAC,TOPMed,gnomAD
rs920313904	p.Ala1391Ser	missense variant	-	NC_000007.14:g.142062616G>T	TOPMed
rs772618637	p.Trp1393Cys	missense variant	-	NC_000007.14:g.142062624G>C	ExAC,gnomAD
rs778209488	p.Trp1394Ter	stop gained	-	NC_000007.14:g.142062626G>A	ExAC,gnomAD
rs747366964	p.Trp1394Cys	missense variant	-	NC_000007.14:g.142062627G>C	ExAC,gnomAD
rs771375074	p.Arg1396Gly	missense variant	-	NC_000007.14:g.142062631A>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg1396Lys	missense variant	-	NC_000007.14:g.142062632G>A	NCI-TCGA
rs777169037	p.Glu1397Lys	missense variant	-	NC_000007.14:g.142062634G>A	ExAC,gnomAD
rs777169037	p.Glu1397Lys	missense variant	-	NC_000007.14:g.142062634G>A	NCI-TCGA,NCI-TCGA Cosmic
rs759766160	p.Ile1398Val	missense variant	-	NC_000007.14:g.142062637A>G	ExAC,gnomAD
rs770154533	p.Glu1399Lys	missense variant	-	NC_000007.14:g.142062640G>A	ExAC,TOPMed,gnomAD
rs775629746	p.Asn1403Lys	missense variant	-	NC_000007.14:g.142062654C>A	ExAC,gnomAD
COSM3634741	p.Asn1404Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142062657T>A	NCI-TCGA Cosmic
rs1168535978	p.Pro1405Ser	missense variant	-	NC_000007.14:g.142062658C>T	TOPMed,gnomAD
rs763013854	p.Gln1406Pro	missense variant	-	NC_000007.14:g.142062662A>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln1406Ter	stop gained	-	NC_000007.14:g.142062661C>T	NCI-TCGA
COSM3634744	p.Pro1408Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142062667C>T	NCI-TCGA Cosmic
COSM6108824	p.Pro1408Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142062668C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1409Asp	missense variant	-	NC_000007.14:g.142062672G>C	NCI-TCGA
rs1164378139	p.Ser1411Thr	missense variant	-	NC_000007.14:g.142062677G>C	TOPMed
rs760625240	p.Ser1411Gly	missense variant	-	NC_000007.14:g.142062676A>G	ExAC,gnomAD
COSM1086515	p.Phe1414Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142062686T>G	NCI-TCGA Cosmic
rs372526101	p.Phe1414Leu	missense variant	-	NC_000007.14:g.142062687T>G	ESP,ExAC,TOPMed,gnomAD
rs375424596	p.Asp1415Gly	missense variant	-	NC_000007.14:g.142062689A>G	ESP,ExAC,gnomAD
rs375424596	p.Asp1415Val	missense variant	-	NC_000007.14:g.142062689A>T	ESP,ExAC,gnomAD
rs754566813	p.Asp1415Asn	missense variant	-	NC_000007.14:g.142062688G>A	ExAC,gnomAD
rs754566813	p.Asp1415His	missense variant	-	NC_000007.14:g.142062688G>C	ExAC,gnomAD
rs1348494719	p.Gly1416Cys	missense variant	-	NC_000007.14:g.142062691G>T	gnomAD
rs1348494719	p.Gly1416Cys	missense variant	-	NC_000007.14:g.142062691G>T	NCI-TCGA
rs777367415	p.Met1417Ile	missense variant	-	NC_000007.14:g.142062696G>A	ExAC,gnomAD
rs1276609630	p.Met1417Leu	missense variant	-	NC_000007.14:g.142062694A>T	gnomAD
rs368030090	p.Trp1418Cys	missense variant	-	NC_000007.14:g.142062699G>T	ESP,ExAC,TOPMed,gnomAD
rs201271635	p.Asp1420Asn	missense variant	-	NC_000007.14:g.142063499G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs781782712	p.Asp1420Gly	missense variant	-	NC_000007.14:g.142063500A>G	ExAC
rs746207317	p.Asn1422Ser	missense variant	-	NC_000007.14:g.142063506A>G	ExAC,gnomAD
rs780492645	p.Glu1423Ala	missense variant	-	NC_000007.14:g.142063509A>C	ExAC
rs749428982	p.Glu1423Asp	missense variant	-	NC_000007.14:g.142063510A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1423Ter	stop gained	-	NC_000007.14:g.142063508G>T	NCI-TCGA
NCI-TCGA novel	p.Glu1423Lys	missense variant	-	NC_000007.14:g.142063508G>A	NCI-TCGA
rs185053832	p.Pro1424Thr	missense variant	-	NC_000007.14:g.142063511C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748280923	p.Ser1425Pro	missense variant	-	NC_000007.14:g.142063514T>C	ExAC,gnomAD
rs1394987514	p.Ser1425Leu	missense variant	-	NC_000007.14:g.142063515C>T	gnomAD
rs770850136	p.Ser1426Thr	missense variant	-	NC_000007.14:g.142063518G>C	ExAC,TOPMed,gnomAD
rs770850136	p.Ser1426Asn	missense variant	-	NC_000007.14:g.142063518G>A	ExAC,TOPMed,gnomAD
rs759302620	p.Val1428Met	missense variant	-	NC_000007.14:g.142063523G>A	ExAC,TOPMed,gnomAD
rs769438206	p.Asn1429Ser	missense variant	-	NC_000007.14:g.142063527A>G	ExAC,gnomAD
rs1348650177	p.Gly1430Glu	missense variant	-	NC_000007.14:g.142063530G>A	gnomAD
rs1348650177	p.Gly1430Glu	missense variant	-	NC_000007.14:g.142063530G>A	NCI-TCGA Cosmic
rs762455641	p.Ala1431Val	missense variant	-	NC_000007.14:g.142063533C>T	ExAC,gnomAD
rs775361719	p.Ala1431Thr	missense variant	-	NC_000007.14:g.142063532G>A	ExAC,TOPMed,gnomAD
rs762455641	p.Ala1431Glu	missense variant	-	NC_000007.14:g.142063533C>A	ExAC,gnomAD
NCI-TCGA novel	p.Val1432Ala	missense variant	-	NC_000007.14:g.142063536T>C	NCI-TCGA
NCI-TCGA novel	p.Pro1434Leu	missense variant	-	NC_000007.14:g.142063542C>T	NCI-TCGA
rs751113499	p.Gly1435Asp	missense variant	-	NC_000007.14:g.142063545G>A	ExAC,gnomAD
rs761452877	p.Cys1436Tyr	missense variant	-	NC_000007.14:g.142063548G>A	ExAC,TOPMed,gnomAD
rs761452877	p.Cys1436Phe	missense variant	-	NC_000007.14:g.142063548G>T	ExAC,TOPMed,gnomAD
rs768118877	p.Arg1437Gly	missense variant	-	NC_000007.14:g.142063550A>G	ExAC,TOPMed,gnomAD
rs750914414	p.Asp1438Gly	missense variant	-	NC_000007.14:g.142063554A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp1438Asn	missense variant	-	NC_000007.14:g.142063553G>A	NCI-TCGA
rs1471303137	p.Ala1439Thr	missense variant	-	NC_000007.14:g.142063556G>A	TOPMed,gnomAD
rs755138331	p.His1443Tyr	missense variant	-	NC_000007.14:g.142063568C>T	ExAC,gnomAD
rs779261743	p.Pro1444Ala	missense variant	-	NC_000007.14:g.142063571C>G	ExAC,gnomAD
rs779261743	p.Pro1444Ser	missense variant	-	NC_000007.14:g.142063571C>T	ExAC,gnomAD
COSM3634753	p.Pro1445Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142063575C>T	NCI-TCGA Cosmic
rs3087313	p.Pro1445Thr	missense variant	-	NC_000007.14:g.142063574C>A	TOPMed,gnomAD
rs3087313	p.Pro1445Ser	missense variant	-	NC_000007.14:g.142063574C>T	TOPMed,gnomAD
rs772187068	p.Tyr1446Cys	missense variant	-	NC_000007.14:g.142063578A>G	ExAC,TOPMed
rs748194894	p.Tyr1446Asn	missense variant	-	NC_000007.14:g.142063577T>A	ExAC,gnomAD
rs950173354	p.Met1447Leu	missense variant	-	NC_000007.14:g.142063580A>T	TOPMed
rs1302619560	p.Pro1448Thr	missense variant	-	NC_000007.14:g.142063583C>A	TOPMed
rs200751815	p.His1449Asn	missense variant	-	NC_000007.14:g.142063586C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1379475063	p.His1449Arg	missense variant	-	NC_000007.14:g.142064384A>G	gnomAD
rs200751815	p.His1449Tyr	missense variant	-	NC_000007.14:g.142063586C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM5081029	p.Leu1450Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142064386T>A	NCI-TCGA Cosmic
COSM4923662	p.Glu1451Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142064390A>G	NCI-TCGA Cosmic
rs1318942215	p.Asp1454His	missense variant	-	NC_000007.14:g.142064398G>C	gnomAD
rs768452325	p.Arg1455Trp	missense variant	-	NC_000007.14:g.142064401A>T	ExAC,gnomAD
rs774321991	p.Arg1455Ser	missense variant	-	NC_000007.14:g.142064403G>T	ExAC,gnomAD
rs1230394650	p.Leu1457Met	missense variant	-	NC_000007.14:g.142064407C>A	TOPMed,gnomAD
rs747733522	p.Ser1458Asn	missense variant	-	NC_000007.14:g.142064411G>A	ExAC,gnomAD
rs375342862	p.Lys1460Met	missense variant	-	NC_000007.14:g.142064417A>T	ESP,TOPMed,gnomAD
rs375342862	p.Lys1460Arg	missense variant	-	NC_000007.14:g.142064417A>G	ESP,TOPMed,gnomAD
COSM1086527	p.Leu1462Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142064422C>G	NCI-TCGA Cosmic
rs1464238432	p.Cys1463Tyr	missense variant	-	NC_000007.14:g.142064426G>A	gnomAD
rs1431556174	p.Ser1466Thr	missense variant	-	NC_000007.14:g.142064435G>C	TOPMed,gnomAD
COSM4843617	p.Gln1468His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142064442G>C	NCI-TCGA Cosmic
rs1198248687	p.Gln1468Glu	missense variant	-	NC_000007.14:g.142064440C>G	TOPMed,gnomAD
rs760296344	p.Leu1470Val	missense variant	-	NC_000007.14:g.142064446C>G	ExAC,TOPMed,gnomAD
rs760296344	p.Leu1470Ile	missense variant	-	NC_000007.14:g.142064446C>A	ExAC,TOPMed,gnomAD
rs760296344	p.Leu1470Ile	missense variant	-	NC_000007.14:g.142064446C>A	NCI-TCGA
rs766765023	p.Pro1471Ser	missense variant	-	NC_000007.14:g.142064449C>T	ExAC,gnomAD
rs766765023	p.Pro1471Ser	missense variant	-	NC_000007.14:g.142064449C>T	NCI-TCGA,NCI-TCGA Cosmic
rs751737247	p.Asp1472Glu	missense variant	-	NC_000007.14:g.142064454C>G	ExAC,TOPMed,gnomAD
rs751737247	p.Asp1472Glu	missense variant	-	NC_000007.14:g.142064454C>A	ExAC,TOPMed,gnomAD
rs758607719	p.Gly1473Cys	missense variant	-	NC_000007.14:g.142064455G>T	ExAC,TOPMed,gnomAD
rs758607719	p.Gly1473Ser	missense variant	-	NC_000007.14:g.142064455G>A	ExAC,TOPMed,gnomAD
rs751562541	p.Ser1474Pro	missense variant	-	NC_000007.14:g.142064458T>C	ExAC,gnomAD
rs1300002442	p.Leu1475Val	missense variant	-	NC_000007.14:g.142064461C>G	gnomAD
rs3087318	p.Leu1475Pro	missense variant	-	NC_000007.14:g.142064462T>C	ESP,ExAC,TOPMed,gnomAD
rs1229883769	p.Gln1477Ter	stop gained	-	NC_000007.14:g.142064467C>T	gnomAD
rs1286016213	p.Gln1477Pro	missense variant	-	NC_000007.14:g.142064468A>C	gnomAD
rs371707186	p.His1478Gln	missense variant	-	NC_000007.14:g.142064472C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371707186	p.His1478Gln	missense variant	-	NC_000007.14:g.142064472C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778789236	p.Val1481Leu	missense variant	-	NC_000007.14:g.142064479G>C	ExAC,TOPMed,gnomAD
rs778789236	p.Val1481Leu	missense variant	-	NC_000007.14:g.142064479G>T	ExAC,TOPMed,gnomAD
rs778789236	p.Val1481Met	missense variant	-	NC_000007.14:g.142064479G>A	ExAC,TOPMed,gnomAD
rs373961689	p.His1482Tyr	missense variant	-	NC_000007.14:g.142064482C>T	ESP,ExAC,gnomAD
rs367916209	p.Tyr1485Ser	missense variant	-	NC_000007.14:g.142064492A>C	ESP,ExAC,TOPMed,gnomAD
rs367916209	p.Tyr1485Cys	missense variant	-	NC_000007.14:g.142064492A>G	ESP,ExAC,TOPMed,gnomAD
rs201310218	p.Trp1487Leu	missense variant	-	NC_000007.14:g.142064498G>T	TOPMed,gnomAD
COSM1086535	p.Thr1490Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142064506A>G	NCI-TCGA Cosmic
COSM86801	p.Pro1492Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142064512C>A	NCI-TCGA Cosmic
rs1342253497	p.Pro1492Leu	missense variant	-	NC_000007.14:g.142064513C>T	gnomAD
rs1457842974	p.Pro1492Ser	missense variant	-	NC_000007.14:g.142064512C>T	gnomAD
rs1299200485	p.Thr1493Arg	missense variant	-	NC_000007.14:g.142064516C>G	gnomAD
rs374771873	p.Glu1495Lys	missense variant	-	NC_000007.14:g.142064521G>A	ESP,ExAC,TOPMed,gnomAD
rs374771873	p.Glu1495Ter	stop gained	-	NC_000007.14:g.142064521G>T	NCI-TCGA
rs374771873	p.Glu1495Ter	stop gained	-	NC_000007.14:g.142064521G>T	ESP,ExAC,TOPMed,gnomAD
rs1011182409	p.Ala1496Thr	missense variant	-	NC_000007.14:g.142065336G>A	TOPMed
rs201533344	p.Val1497Leu	missense variant	-	NC_000007.14:g.142065339G>T	ESP,ExAC,TOPMed,gnomAD
rs201533344	p.Val1497Met	missense variant	-	NC_000007.14:g.142065339G>A	ESP,ExAC,TOPMed,gnomAD
rs201533344	p.Val1497Met	missense variant	-	NC_000007.14:g.142065339G>A	NCI-TCGA,NCI-TCGA Cosmic
COSM745273	p.Gln1498Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142065343A>T	NCI-TCGA Cosmic
rs780742115	p.Gln1498His	missense variant	-	NC_000007.14:g.142065344G>C	ExAC,gnomAD
rs745451167	p.Glu1499Lys	missense variant	-	NC_000007.14:g.142065345G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu1499Asp	missense variant	-	NC_000007.14:g.142065347G>T	NCI-TCGA
rs376131049	p.Thr1501Met	missense variant	-	NC_000007.14:g.142065352C>T	ESP,ExAC,TOPMed,gnomAD
rs1431952081	p.Gln1503Leu	missense variant	-	NC_000007.14:g.142065358A>T	TOPMed
rs374506553	p.Arg1504Gln	missense variant	-	NC_000007.14:g.142065361G>A	ESP,ExAC,TOPMed,gnomAD
rs374506553	p.Arg1504Gln	missense variant	-	NC_000007.14:g.142065361G>A	NCI-TCGA,NCI-TCGA Cosmic
rs200390887	p.Arg1504Ter	stop gained	-	NC_000007.14:g.142065360C>T	ExAC,TOPMed,gnomAD
COSM1448740	p.Gly1505Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142065363G>T	NCI-TCGA Cosmic
rs774586942	p.Gly1505Arg	missense variant	-	NC_000007.14:g.142065363G>A	ExAC,gnomAD
rs1414495073	p.Gly1505Val	missense variant	-	NC_000007.14:g.142065364G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gly1505Glu	missense variant	-	NC_000007.14:g.142065364G>A	NCI-TCGA
rs527929510	p.Val1507Ile	missense variant	-	NC_000007.14:g.142065369G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs527929510	p.Val1507Ile	missense variant	-	NC_000007.14:g.142065369G>A	NCI-TCGA
rs767687937	p.Ile1508Phe	missense variant	-	NC_000007.14:g.142065372A>T	NCI-TCGA
rs767687937	p.Ile1508Phe	missense variant	-	NC_000007.14:g.142065372A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile1508Asn	missense variant	-	NC_000007.14:g.142065373T>A	NCI-TCGA
rs750509389	p.Thr1509Asn	missense variant	-	NC_000007.14:g.142065376C>A	ExAC,TOPMed,gnomAD
rs750509389	p.Thr1509Ile	missense variant	-	NC_000007.14:g.142065376C>T	ExAC,TOPMed,gnomAD
rs760340491	p.Arg1510His	missense variant	-	NC_000007.14:g.142065379G>A	ExAC,TOPMed,gnomAD
rs760340491	p.Arg1510His	missense variant	-	NC_000007.14:g.142065379G>A	NCI-TCGA,NCI-TCGA Cosmic
rs760873437	p.Arg1510Cys	missense variant	-	NC_000007.14:g.142065378C>T	ExAC,TOPMed,gnomAD
rs760873437	p.Arg1510Cys	missense variant	-	NC_000007.14:g.142065378C>T	NCI-TCGA
rs199508271	p.Thr1512Ala	missense variant	-	NC_000007.14:g.142065384A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199508271	p.Thr1512Pro	missense variant	-	NC_000007.14:g.142065384A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3634765	p.Pro1514Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142065390C>T	NCI-TCGA Cosmic
rs777555213	p.Pro1514Leu	missense variant	-	NC_000007.14:g.142065391C>T	ExAC,gnomAD
rs777555213	p.Pro1514Leu	missense variant	-	NC_000007.14:g.142065391C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1311816325	p.Ser1515Cys	missense variant	-	NC_000007.14:g.142065394C>G	gnomAD
rs1311816325	p.Ser1515Cys	missense variant	-	NC_000007.14:g.142065394C>G	NCI-TCGA
COSM3634768	p.Gly1517Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142065400G>A	NCI-TCGA Cosmic
rs1209535324	p.Gly1517Ser	missense variant	-	NC_000007.14:g.142065399G>A	gnomAD
rs763981731	p.Arg1518His	missense variant	-	NC_000007.14:g.142065403G>A	ExAC,TOPMed,gnomAD
rs751370314	p.Arg1518Cys	missense variant	-	NC_000007.14:g.142065402C>T	ExAC,TOPMed,gnomAD
rs763981731	p.Arg1518Leu	missense variant	-	NC_000007.14:g.142065403G>T	ExAC,TOPMed,gnomAD
rs751370314	p.Arg1518Cys	missense variant	-	NC_000007.14:g.142065402C>T	NCI-TCGA
rs1188514985	p.Trp1519Ter	stop gained	-	NC_000007.14:g.142065407G>A	gnomAD
NCI-TCGA novel	p.Trp1519Cys	missense variant	-	NC_000007.14:g.142065407G>C	NCI-TCGA
rs200663999	p.Ala1520Pro	missense variant	-	NC_000007.14:g.142065408G>C	ExAC,TOPMed,gnomAD
rs972966549	p.Ala1520Val	missense variant	-	NC_000007.14:g.142065409C>T	TOPMed
COSM3634771	p.Gly1521Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142065411G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1521Ala	missense variant	-	NC_000007.14:g.142065412G>C	NCI-TCGA
rs745360965	p.Trp1523Gly	missense variant	-	NC_000007.14:g.142065417T>G	ExAC,gnomAD
rs1192414161	p.Leu1524Pro	missense variant	-	NC_000007.14:g.142065421T>C	gnomAD
rs918535669	p.Gly1525Arg	missense variant	-	NC_000007.14:g.142065423G>C	TOPMed
NCI-TCGA novel	p.Gly1525Arg	missense variant	-	NC_000007.14:g.142065423G>A	NCI-TCGA
rs1411889666	p.Asp1526Gly	missense variant	-	NC_000007.14:g.142065427A>G	TOPMed
rs1159385818	p.Asp1526Glu	missense variant	-	NC_000007.14:g.142065428C>A	gnomAD
rs779574602	p.Asn1527Lys	missense variant	-	NC_000007.14:g.142065431C>A	ExAC,gnomAD
rs1390590692	p.Asn1527Ser	missense variant	-	NC_000007.14:g.142065430A>G	gnomAD
rs370790394	p.Thr1528Met	missense variant	-	NC_000007.14:g.142065433C>T	ESP,ExAC,TOPMed,gnomAD
rs370790394	p.Thr1528Arg	missense variant	-	NC_000007.14:g.142065433C>G	ESP,ExAC,TOPMed,gnomAD
rs1456862416	p.Ala1529Asp	missense variant	-	NC_000007.14:g.142065436C>A	TOPMed
rs772302459	p.Ala1530Pro	missense variant	-	NC_000007.14:g.142065438G>C	ExAC,gnomAD
rs772302459	p.Ala1530Thr	missense variant	-	NC_000007.14:g.142065438G>A	ExAC,gnomAD
rs1229276923	p.Trp1531Gly	missense variant	-	NC_000007.14:g.142065441T>G	TOPMed,gnomAD
NCI-TCGA novel	p.Asp1532IlePheSerTerUnk	frameshift	-	NC_000007.14:g.142065442G>-	NCI-TCGA
rs766526968	p.Gln1533Ter	stop gained	-	NC_000007.14:g.142065447C>T	ExAC,gnomAD
rs1248970291	p.Lys1536Asn	missense variant	-	NC_000007.14:g.142065458G>T	TOPMed
NCI-TCGA novel	p.Ser1537Phe	missense variant	-	NC_000007.14:g.142065460C>T	NCI-TCGA
rs1244283229	p.Ile1538Val	missense variant	-	NC_000007.14:g.142065462A>G	TOPMed,gnomAD
rs753970177	p.Ile1539Thr	missense variant	-	NC_000007.14:g.142065466T>C	ExAC,gnomAD
NCI-TCGA novel	p.Met1541Ile	missense variant	-	NC_000007.14:g.142094624G>A	NCI-TCGA
COSM3922886	p.Met1542Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142094627G>A	NCI-TCGA Cosmic
COSM4396279	p.Glu1543Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142094628G>A	NCI-TCGA Cosmic
rs1473297774	p.Glu1543Asp	missense variant	-	NC_000007.14:g.142094630G>T	gnomAD
rs114816880	p.Phe1547Leu	missense variant	-	NC_000007.14:g.142094642C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371216137	p.Gly1548Cys	missense variant	-	NC_000007.14:g.142094643G>T	ESP,ExAC,TOPMed,gnomAD
rs371216137	p.Gly1548Ser	missense variant	-	NC_000007.14:g.142094643G>A	ESP,ExAC,TOPMed,gnomAD
rs1390349368	p.Ile1549Lys	missense variant	-	NC_000007.14:g.142094647T>A	TOPMed
NCI-TCGA novel	p.Ser1550Tyr	missense variant	-	NC_000007.14:g.142094650C>A	NCI-TCGA
rs202001107	p.Tyr1551Phe	missense variant	-	NC_000007.14:g.142094653A>T	1000Genomes,ExAC,gnomAD
rs1347895137	p.Tyr1551Ter	stop gained	-	NC_000007.14:g.142094654T>G	gnomAD
rs200383607	p.Thr1552Met	missense variant	-	NC_000007.14:g.142094748C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200383607	p.Thr1552Arg	missense variant	-	NC_000007.14:g.142094748C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs375492601	p.Gly1553Glu	missense variant	-	NC_000007.14:g.142094751G>A	ESP,ExAC,TOPMed,gnomAD
rs375492601	p.Gly1553Val	missense variant	-	NC_000007.14:g.142094751G>T	ESP,ExAC,TOPMed,gnomAD
rs1312281493	p.Ala1554Thr	missense variant	-	NC_000007.14:g.142094753G>A	gnomAD
rs768722066	p.Asp1555Gly	missense variant	-	NC_000007.14:g.142094757A>G	ExAC,gnomAD
rs1240922992	p.Ile1556Thr	missense variant	-	NC_000007.14:g.142094760T>C	TOPMed,gnomAD
rs1240922992	p.Ile1556Ser	missense variant	-	NC_000007.14:g.142094760T>G	TOPMed,gnomAD
rs1240922992	p.Ile1556Asn	missense variant	-	NC_000007.14:g.142094760T>A	TOPMed,gnomAD
rs1366814643	p.Gly1558Val	missense variant	-	NC_000007.14:g.142094766G>T	gnomAD
rs1458846225	p.Phe1559Leu	missense variant	-	NC_000007.14:g.142094770C>G	gnomAD
COSM4836994	p.Phe1560Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142094772T>C	NCI-TCGA Cosmic
rs1415686921	p.Phe1560Leu	missense variant	-	NC_000007.14:g.142094771T>C	TOPMed
NCI-TCGA novel	p.Gln1561Ter	stop gained	-	NC_000007.14:g.142094774C>T	NCI-TCGA
COSM262006	p.Glu1564Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142094784A>C	NCI-TCGA Cosmic
rs7785793	p.Tyr1565Ter	stop gained	-	NC_000007.14:g.142094788T>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1566Lys	missense variant	-	NC_000007.14:g.142094789G>A	NCI-TCGA
rs973110017	p.Met1567Leu	missense variant	-	NC_000007.14:g.142094792A>T	TOPMed
rs759358084	p.Met1567Ile	missense variant	-	NC_000007.14:g.142094794G>A	ExAC,TOPMed,gnomAD
rs752366532	p.Val1569Ile	missense variant	-	NC_000007.14:g.142094798G>A	ExAC,gnomAD
rs777133943	p.Arg1570His	missense variant	-	NC_000007.14:g.142094802G>A	ExAC,TOPMed,gnomAD
rs777133943	p.Arg1570Leu	missense variant	-	NC_000007.14:g.142094802G>T	ExAC,TOPMed,gnomAD
rs267601326	p.Arg1570Cys	missense variant	-	NC_000007.14:g.142094801C>T	ExAC,TOPMed,gnomAD
rs1381335422	p.Trp1571Cys	missense variant	-	NC_000007.14:g.142094806G>T	gnomAD
rs1229199030	p.Met1572Leu	missense variant	-	NC_000007.14:g.142094807A>T	TOPMed
rs955618611	p.Gln1573Leu	missense variant	-	NC_000007.14:g.142094811A>T	TOPMed
rs1329111535	p.Leu1574Pro	missense variant	-	NC_000007.14:g.142094814T>C	TOPMed
rs537654353	p.Gly1575Arg	missense variant	-	NC_000007.14:g.142094816G>A	gnomAD
rs756724019	p.Gly1575Glu	missense variant	-	NC_000007.14:g.142094817G>A	ExAC,TOPMed,gnomAD
COSM3634780	p.Ala1576Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142094820C>T	NCI-TCGA Cosmic
rs1323046336	p.Ala1576Ser	missense variant	-	NC_000007.14:g.142094819G>T	gnomAD
rs1363470476	p.Ala1576Asp	missense variant	-	NC_000007.14:g.142094820C>A	gnomAD
rs781693630	p.Phe1577Leu	missense variant	-	NC_000007.14:g.142094824T>G	ExAC,gnomAD
rs369960214	p.Tyr1578His	missense variant	-	NC_000007.14:g.142094825T>C	ESP,ExAC,TOPMed,gnomAD
rs1370309555	p.Pro1579Ser	missense variant	-	NC_000007.14:g.142094828C>T	gnomAD
rs1220493332	p.Pro1579Leu	missense variant	-	NC_000007.14:g.142094829C>T	gnomAD
NCI-TCGA novel	p.Pro1579Thr	missense variant	-	NC_000007.14:g.142094828C>A	NCI-TCGA
rs770118492	p.His1584Gln	missense variant	-	NC_000007.14:g.142094845C>A	ExAC,gnomAD
rs749501771	p.Thr1586Ala	missense variant	-	NC_000007.14:g.142094849A>G	ExAC,TOPMed,gnomAD
rs541425081	p.Ile1587Thr	missense variant	-	NC_000007.14:g.142094853T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1311856968	p.Gly1588Ala	missense variant	-	NC_000007.14:g.142094856G>C	TOPMed,gnomAD
rs866876882	p.Thr1589Ile	missense variant	-	NC_000007.14:g.142094859C>T	gnomAD
rs866876882	p.Thr1589Asn	missense variant	-	NC_000007.14:g.142094859C>A	gnomAD
rs774443126	p.Arg1590Gly	missense variant	-	NC_000007.14:g.142094861A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1590Met	missense variant	-	NC_000007.14:g.142094862G>T	NCI-TCGA
rs369439250	p.Gln1592Lys	missense variant	-	NC_000007.14:g.142095568C>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1593His	missense variant	-	NC_000007.14:g.142095571G>C	NCI-TCGA
COSM1086539	p.Pro1594His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142095575C>A	NCI-TCGA Cosmic
rs779149190	p.Pro1594Arg	missense variant	-	NC_000007.14:g.142095575C>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro1594Ser	missense variant	-	NC_000007.14:g.142095574C>T	NCI-TCGA
rs1469799332	p.Val1595Ala	missense variant	-	NC_000007.14:g.142095578T>C	gnomAD
COSM4404602	p.Ser1596Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142095581C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser1596Tyr	missense variant	-	NC_000007.14:g.142095581C>A	NCI-TCGA
NCI-TCGA novel	p.Trp1597Ter	stop gained	-	NC_000007.14:g.142095584G>A	NCI-TCGA
rs1411517690	p.Asp1598Asn	missense variant	-	NC_000007.14:g.142095586G>A	TOPMed
rs1473636948	p.Val1599Ala	missense variant	-	NC_000007.14:g.142095590T>C	TOPMed,gnomAD
rs373607967	p.Ala1600Val	missense variant	-	NC_000007.14:g.142095593C>T	ESP,ExAC,TOPMed,gnomAD
rs377447787	p.Asn1603Ser	missense variant	-	NC_000007.14:g.142095602A>G	ESP,TOPMed,gnomAD
rs112671793	p.Ile1604Val	missense variant	-	NC_000007.14:g.142095604A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3634783	p.Ser1605Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142095608C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser1605Tyr	missense variant	-	NC_000007.14:g.142095608C>A	NCI-TCGA
rs1486005404	p.Thr1607Asn	missense variant	-	NC_000007.14:g.142095614C>A	TOPMed
rs773232506	p.Val1608Ile	missense variant	-	NC_000007.14:g.142095616G>A	ExAC,TOPMed
rs773232506	p.Val1608Phe	missense variant	-	NC_000007.14:g.142095616G>T	ExAC,TOPMed
rs1228058876	p.Gln1610Ter	stop gained	-	NC_000007.14:g.142095622C>T	TOPMed
NCI-TCGA novel	p.Gln1610His	missense variant	-	NC_000007.14:g.142095624G>C	NCI-TCGA
rs769796064	p.Thr1611Ile	missense variant	-	NC_000007.14:g.142095626C>T	ExAC,gnomAD
rs745786941	p.Thr1611Ala	missense variant	-	NC_000007.14:g.142095625A>G	ExAC,gnomAD
rs1237869963	p.Arg1612Thr	missense variant	-	NC_000007.14:g.142095629G>C	TOPMed,gnomAD
rs1349329827	p.Thr1614Ser	missense variant	-	NC_000007.14:g.142095635C>G	TOPMed
rs1483325255	p.Pro1617Leu	missense variant	-	NC_000007.14:g.142095644C>T	gnomAD
rs1248493518	p.Tyr1618Cys	missense variant	-	NC_000007.14:g.142095647A>G	TOPMed,gnomAD
COSM3634786	p.Thr1621Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142095656C>T	NCI-TCGA Cosmic
rs200697908	p.His1624Arg	missense variant	-	NC_000007.14:g.142095665A>G	1000Genomes,ExAC,gnomAD
rs147084365	p.His1624Gln	missense variant	-	NC_000007.14:g.142095666T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138571855	p.Thr1628Arg	missense variant	-	NC_000007.14:g.142095677C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138571855	p.Thr1628Met	missense variant	-	NC_000007.14:g.142095677C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1169212180	p.Gly1630Val	missense variant	-	NC_000007.14:g.142095683G>T	TOPMed,gnomAD
rs374392165	p.Val1631Ile	missense variant	-	NC_000007.14:g.142095685G>A	ESP,ExAC,TOPMed,gnomAD
rs1467374902	p.Val1631Asp	missense variant	-	NC_000007.14:g.142095686T>A	TOPMed
rs1275671832	p.Thr1632Asn	missense variant	-	NC_000007.14:g.142095689C>A	TOPMed
rs1234401612	p.Val1633Ile	missense variant	-	NC_000007.14:g.142095691G>A	TOPMed
NCI-TCGA novel	p.Val1634Met	missense variant	-	NC_000007.14:g.142095694G>A	NCI-TCGA
rs868391857	p.Arg1635Trp	missense variant	-	NC_000007.14:g.142095697C>T	gnomAD
rs779185299	p.Arg1635Gln	missense variant	-	NC_000007.14:g.142095698G>A	ExAC,gnomAD
rs9655651	p.Leu1638Val	missense variant	-	NC_000007.14:g.142095706C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs9655651	p.Leu1638Ile	missense variant	-	NC_000007.14:g.142095706C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs9655651	p.Leu1638Phe	missense variant	-	NC_000007.14:g.142095706C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758605204	p.His1639Leu	missense variant	-	NC_000007.14:g.142095710A>T	ExAC,TOPMed,gnomAD
rs758605204	p.His1639Arg	missense variant	-	NC_000007.14:g.142095710A>G	ExAC,TOPMed,gnomAD
rs374054208	p.His1639Gln	missense variant	-	NC_000007.14:g.142095711T>A	ESP,ExAC,TOPMed,gnomAD
COSM1488304	p.Glu1640Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142095712G>C	NCI-TCGA Cosmic
rs1338842955	p.Glu1640Ter	stop gained	-	NC_000007.14:g.142095712G>T	gnomAD
rs6975672	p.Glu1640Asp	missense variant	-	NC_000007.14:g.142096331G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs778917542	p.Ser1643Ter	stop gained	-	NC_000007.14:g.142096339C>A	ExAC,gnomAD
COSM3634789	p.Asp1644Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142096341G>A	NCI-TCGA Cosmic
rs747859867	p.Asp1644Glu	missense variant	-	NC_000007.14:g.142096343C>G	ExAC,TOPMed,gnomAD
rs771880163	p.Gln1645Lys	missense variant	-	NC_000007.14:g.142096344C>A	ExAC,gnomAD
rs771880163	p.Gln1645Ter	stop gained	-	NC_000007.14:g.142096344C>T	ExAC,gnomAD
rs1384234585	p.Val1646Leu	missense variant	-	NC_000007.14:g.142096347G>T	gnomAD
NCI-TCGA novel	p.Val1646Met	missense variant	-	NC_000007.14:g.142096347G>A	NCI-TCGA
rs372791404	p.Thr1647Ser	missense variant	-	NC_000007.14:g.142096350A>T	ESP,ExAC,TOPMed,gnomAD
rs372791404	p.Thr1647Ala	missense variant	-	NC_000007.14:g.142096350A>G	ESP,ExAC,TOPMed,gnomAD
rs202121935	p.Trp1648Gly	missense variant	-	NC_000007.14:g.142096353T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1289251193	p.Ile1650Thr	missense variant	-	NC_000007.14:g.142096360T>C	gnomAD
rs770423213	p.Ile1650Leu	missense variant	-	NC_000007.14:g.142096359A>T	ExAC,TOPMed,gnomAD
rs770423213	p.Ile1650Val	missense variant	-	NC_000007.14:g.142096359A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile1650ArgPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.142096359_142096360AT>-	NCI-TCGA
rs776176991	p.Asp1651Gly	missense variant	-	NC_000007.14:g.142096363A>G	ExAC,gnomAD
rs759098687	p.Asp1651Glu	missense variant	-	NC_000007.14:g.142096364C>A	ExAC,TOPMed,gnomAD
rs1260492875	p.Gly1657Ser	missense variant	-	NC_000007.14:g.142096380G>A	gnomAD
NCI-TCGA novel	p.Gly1657Arg	missense variant	-	NC_000007.14:g.142096380G>C	NCI-TCGA
rs753276772	p.Ala1659Val	missense variant	-	NC_000007.14:g.142096387C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala1659Asp	missense variant	-	NC_000007.14:g.142096387C>A	NCI-TCGA
rs764599561	p.Phe1660Cys	missense variant	-	NC_000007.14:g.142096390T>G	ExAC,gnomAD
rs570362335	p.Leu1661Pro	missense variant	-	NC_000007.14:g.142096393T>C	1000Genomes,ExAC,gnomAD
rs1435181435	p.Val1662Ala	missense variant	-	NC_000007.14:g.142096396T>C	TOPMed
rs757615356	p.Val1662Ile	missense variant	-	NC_000007.14:g.142096395G>A	ExAC,gnomAD
rs1418495156	p.Ser1663Asn	missense variant	-	NC_000007.14:g.142096399G>A	TOPMed
rs767688894	p.Pro1664Ser	missense variant	-	NC_000007.14:g.142096401C>T	ExAC
rs1166141039	p.Glu1667Lys	missense variant	-	NC_000007.14:g.142096410G>A	TOPMed
rs750406655	p.Arg1668Cys	missense variant	-	NC_000007.14:g.142096413C>T	ExAC,TOPMed,gnomAD
rs369519766	p.Arg1668His	missense variant	-	NC_000007.14:g.142096414G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn1669His	missense variant	-	NC_000007.14:g.142097593A>C	NCI-TCGA
rs769224377	p.Asn1672Thr	missense variant	-	NC_000007.14:g.142097603A>C	ExAC,gnomAD
NCI-TCGA novel	p.Val1673Ala	missense variant	-	NC_000007.14:g.142097606T>C	NCI-TCGA
rs775412511	p.Ala1675Thr	missense variant	-	NC_000007.14:g.142097611G>A	gnomAD
rs1169792735	p.Tyr1676Cys	missense variant	-	NC_000007.14:g.142097615A>G	gnomAD
rs1477819896	p.Pro1678Ala	missense variant	-	NC_000007.14:g.142097620C>G	gnomAD
NCI-TCGA novel	p.Pro1678His	missense variant	-	NC_000007.14:g.142097621C>A	NCI-TCGA
rs369025335	p.Arg1679Lys	missense variant	-	NC_000007.14:g.142097624G>A	ESP,TOPMed
NCI-TCGA novel	p.Ala1680Val	missense variant	-	NC_000007.14:g.142097627C>T	NCI-TCGA
rs528091576	p.Arg1681His	missense variant	-	NC_000007.14:g.142097630G>A	1000Genomes,ExAC,gnomAD
rs773279743	p.Arg1681Cys	missense variant	-	NC_000007.14:g.142097629C>T	ExAC,TOPMed,gnomAD
rs766355982	p.Trp1682Cys	missense variant	-	NC_000007.14:g.142097634G>T	ExAC,gnomAD
rs753899293	p.Tyr1683Cys	missense variant	-	NC_000007.14:g.142097636A>G	ExAC,gnomAD
COSM3634804	p.Asp1684Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142097638G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp1684Glu	missense variant	-	NC_000007.14:g.142097640T>G	NCI-TCGA
rs763977407	p.Tyr1685Cys	missense variant	-	NC_000007.14:g.142097642A>G	ExAC,TOPMed,gnomAD
COSM6176372	p.Tyr1686Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142097645A>T	NCI-TCGA Cosmic
rs757023946	p.Thr1687Met	missense variant	-	NC_000007.14:g.142097648C>T	ExAC,TOPMed,gnomAD
rs373813573	p.Gly1688Ser	missense variant	-	NC_000007.14:g.142099613G>A	ESP,ExAC,TOPMed,gnomAD
rs769858990	p.Gly1688Val	missense variant	-	NC_000007.14:g.142099614G>T	ExAC
rs373813573	p.Gly1688Cys	missense variant	-	NC_000007.14:g.142099613G>T	ESP,ExAC,TOPMed,gnomAD
rs775600653	p.Val1689Leu	missense variant	-	NC_000007.14:g.142099616G>T	ExAC,gnomAD
rs775600653	p.Val1689Met	missense variant	-	NC_000007.14:g.142099616G>A	ExAC,gnomAD
COSM3634810	p.Asp1690Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142099619G>A	NCI-TCGA Cosmic
rs1348301097	p.Ile1691Val	missense variant	-	NC_000007.14:g.142099622A>G	gnomAD
rs369802718	p.Asn1692Ser	missense variant	-	NC_000007.14:g.142099626A>G	ExAC,TOPMed,gnomAD
rs773052362	p.Arg1694Ser	missense variant	-	NC_000007.14:g.142099633A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1694Lys	missense variant	-	NC_000007.14:g.142099632G>A	NCI-TCGA
COSM3634816	p.Gly1695Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142099635G>A	NCI-TCGA Cosmic
COSM3634813	p.Gly1695Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142099634G>A	NCI-TCGA Cosmic
rs1268266008	p.Glu1696Ter	stop gained	-	NC_000007.14:g.142099637G>T	gnomAD
rs766319661	p.Trp1697Arg	missense variant	-	NC_000007.14:g.142099640T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys1698Arg	missense variant	-	NC_000007.14:g.142099644A>G	NCI-TCGA
rs753541014	p.Thr1699Ser	missense variant	-	NC_000007.14:g.142099647C>G	ExAC,gnomAD
COSM3634819	p.Leu1700Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142099649T>A	NCI-TCGA Cosmic
COSM3634822	p.Pro1701Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142099652C>G	NCI-TCGA Cosmic
rs367621700	p.Pro1701Thr	missense variant	-	NC_000007.14:g.142099652C>A	ESP,ExAC,gnomAD
rs367621700	p.Pro1701Ser	missense variant	-	NC_000007.14:g.142099652C>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Pro1701Gln	missense variant	-	NC_000007.14:g.142099653C>A	NCI-TCGA
rs764995959	p.Ala1702Ser	missense variant	-	NC_000007.14:g.142099655G>T	ExAC,gnomAD
COSM3634825	p.Pro1703Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142099658C>T	NCI-TCGA Cosmic
rs757879351	p.His1706Arg	missense variant	-	NC_000007.14:g.142099668A>G	ExAC,gnomAD
rs1423281408	p.His1706Gln	missense variant	-	NC_000007.14:g.142099669C>G	TOPMed,gnomAD
rs1012748763	p.Ile1707Val	missense variant	-	NC_000007.14:g.142099670A>G	TOPMed
rs1385757479	p.Asn1708Ser	missense variant	-	NC_000007.14:g.142099674A>G	TOPMed
rs778292072	p.Leu1709Pro	missense variant	-	NC_000007.14:g.142099677T>C	ExAC,gnomAD
COSM2862584	p.His1710Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142099679C>T	NCI-TCGA Cosmic
rs747517001	p.His1710Pro	missense variant	-	NC_000007.14:g.142099680A>C	ExAC,gnomAD
rs781602751	p.Arg1712Leu	missense variant	-	NC_000007.14:g.142099686G>T	ExAC,TOPMed,gnomAD
rs372412602	p.Arg1712Cys	missense variant	-	NC_000007.14:g.142099685C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781602751	p.Arg1712His	missense variant	-	NC_000007.14:g.142099686G>A	ExAC,TOPMed,gnomAD
rs781602751	p.Arg1712Pro	missense variant	-	NC_000007.14:g.142099686G>C	ExAC,TOPMed,gnomAD
rs775690591	p.Gly1713Trp	missense variant	-	NC_000007.14:g.142099688G>T	ExAC,gnomAD
rs775690591	p.Gly1713Arg	missense variant	-	NC_000007.14:g.142099688G>A	ExAC,gnomAD
rs1441268914	p.Gly1714Asp	missense variant	-	NC_000007.14:g.142099692G>A	gnomAD
NCI-TCGA novel	p.Gly1714Ser	missense variant	-	NC_000007.14:g.142099691G>A	NCI-TCGA
rs1179177926	p.Ile1716Val	missense variant	-	NC_000007.14:g.142099697A>G	TOPMed
NCI-TCGA novel	p.Ile1716Phe	missense variant	-	NC_000007.14:g.142099697A>T	NCI-TCGA
rs768669879	p.Pro1718Leu	missense variant	-	NC_000007.14:g.142099704C>T	ExAC,gnomAD
rs768669879	p.Pro1718Arg	missense variant	-	NC_000007.14:g.142099704C>G	ExAC,gnomAD
rs1243689919	p.Trp1719Cys	missense variant	-	NC_000007.14:g.142099708G>T	gnomAD
COSM1448752	p.Trp1719Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142099707G>T	NCI-TCGA Cosmic
rs1481061198	p.Trp1719Arg	missense variant	-	NC_000007.14:g.142099706T>C	TOPMed
COSM3634828	p.Glu1721Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142099712G>A	NCI-TCGA Cosmic
rs773173503	p.Glu1721Gln	missense variant	-	NC_000007.14:g.142099712G>C	ExAC,TOPMed,gnomAD
rs760600176	p.Pro1722Thr	missense variant	-	NC_000007.14:g.142099715C>A	ExAC,TOPMed,gnomAD
rs760600176	p.Pro1722Ser	missense variant	-	NC_000007.14:g.142099715C>T	ExAC,TOPMed,gnomAD
rs1197591109	p.Thr1726Asn	missense variant	-	NC_000007.14:g.142099728C>A	gnomAD
COSM205356	p.His1727Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142099731A>C	NCI-TCGA Cosmic
rs561976926	p.Leu1728Phe	missense variant	-	NC_000007.14:g.142099735A>C	1000Genomes,TOPMed
rs766266700	p.Ser1729Asn	missense variant	-	NC_000007.14:g.142099737G>A	ExAC,gnomAD
rs200582702	p.Arg1730His	missense variant	-	NC_000007.14:g.142100804G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs762579452	p.Arg1730Cys	missense variant	-	NC_000007.14:g.142100803C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1732Glu	missense variant	-	NC_000007.14:g.142100809A>G	NCI-TCGA
rs576684251	p.Phe1733Leu	missense variant	-	NC_000007.14:g.142100814C>G	1000Genomes,ExAC,gnomAD
rs1302024549	p.Met1734Ile	missense variant	-	NC_000007.14:g.142100817G>A	gnomAD
rs1468076892	p.Met1734Thr	missense variant	-	NC_000007.14:g.142100816T>C	gnomAD
rs1385657483	p.Gly1735Asp	missense variant	-	NC_000007.14:g.142100819G>A	gnomAD
COSM3634833	p.Phe1736Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142100822T>C	NCI-TCGA Cosmic
rs1383850235	p.Ala1739Ser	missense variant	-	NC_000007.14:g.142100830G>T	gnomAD
rs767969164	p.Leu1740Val	missense variant	-	NC_000007.14:g.142100833T>G	ExAC,TOPMed,gnomAD
rs756442085	p.Leu1740Ser	missense variant	-	NC_000007.14:g.142100834T>C	ExAC,TOPMed,gnomAD
rs1165508895	p.Asp1741Gly	missense variant	-	NC_000007.14:g.142100837A>G	TOPMed
rs1165508895	p.Asp1741Val	missense variant	-	NC_000007.14:g.142100837A>T	TOPMed
rs1406058828	p.Asp1742Val	missense variant	-	NC_000007.14:g.142100840A>T	TOPMed
rs780353179	p.Gly1744Val	missense variant	-	NC_000007.14:g.142100846G>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly1744Ter	stop gained	-	NC_000007.14:g.142100845G>T	NCI-TCGA
rs754082053	p.Ala1746Val	missense variant	-	NC_000007.14:g.142100852C>T	ExAC,gnomAD
rs768304137	p.Gly1747Arg	missense variant	-	NC_000007.14:g.142100854G>A	ExAC,TOPMed,gnomAD
rs768304137	p.Gly1747Arg	missense variant	-	NC_000007.14:g.142100854G>C	ExAC,TOPMed,gnomAD
rs1261672574	p.Gly1748Cys	missense variant	-	NC_000007.14:g.142100857G>T	TOPMed,gnomAD
rs765764785	p.Gly1748AlaPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.142100854G>-	NCI-TCGA
rs1203911144	p.Asp1753Val	missense variant	-	NC_000007.14:g.142100873A>T	gnomAD
rs779200546	p.Asp1754Asn	missense variant	-	NC_000007.14:g.142100875G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp1754Glu	missense variant	-	NC_000007.14:g.142100877T>G	NCI-TCGA
COSM599538	p.Gly1755Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142100878G>T	NCI-TCGA Cosmic
rs1199471996	p.Gln1756Lys	missense variant	-	NC_000007.14:g.142100881C>A	gnomAD
NCI-TCGA novel	p.Ser1757Asn	missense variant	-	NC_000007.14:g.142100885G>A	NCI-TCGA
rs748138224	p.Ile1758Thr	missense variant	-	NC_000007.14:g.142100888T>C	ExAC,TOPMed,gnomAD
rs778953832	p.Asp1759Val	missense variant	-	NC_000007.14:g.142102630A>T	ExAC,TOPMed,gnomAD
rs1298788744	p.Thr1760Asn	missense variant	-	NC_000007.14:g.142102633C>A	gnomAD
rs1206987147	p.Thr1760Ala	missense variant	-	NC_000007.14:g.142102632A>G	TOPMed
COSM452502	p.Tyr1761Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142102635T>G	NCI-TCGA Cosmic
rs1390119294	p.Tyr1761His	missense variant	-	NC_000007.14:g.142102635T>C	gnomAD
rs778065310	p.Tyr1761Cys	missense variant	-	NC_000007.14:g.142102636A>G	ExAC,gnomAD
NCI-TCGA novel	p.Tyr1761Phe	missense variant	-	NC_000007.14:g.142102636A>T	NCI-TCGA
rs868728160	p.Gly1762Glu	missense variant	-	NC_000007.14:g.142102639G>A	TOPMed
COSM3634839	p.Gly1764Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142102645G>A	NCI-TCGA Cosmic
rs769559638	p.Gly1764Arg	missense variant	-	NC_000007.14:g.142102644G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly1764Ter	stop gained	-	NC_000007.14:g.142102644G>T	NCI-TCGA
rs1290111282	p.Tyr1766Cys	missense variant	-	NC_000007.14:g.142102651A>G	TOPMed,gnomAD
rs377502170	p.Ala1769Gly	missense variant	-	NC_000007.14:g.142102660C>G	ESP,ExAC,TOPMed,gnomAD
rs768515846	p.Ala1769Ser	missense variant	-	NC_000007.14:g.142102659G>T	ExAC,gnomAD
rs377502170	p.Ala1769Val	missense variant	-	NC_000007.14:g.142102660C>T	ESP,ExAC,TOPMed,gnomAD
rs768515846	p.Ala1769Thr	missense variant	-	NC_000007.14:g.142102659G>A	ExAC,gnomAD
rs771561286	p.Ser1770Asn	missense variant	-	NC_000007.14:g.142102663G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe1771Leu	missense variant	-	NC_000007.14:g.142102667T>A	NCI-TCGA
rs1237492601	p.Ala1773Ser	missense variant	-	NC_000007.14:g.142102671G>T	gnomAD
rs772655841	p.Gln1775His	missense variant	-	NC_000007.14:g.142102679G>C	ExAC,TOPMed,gnomAD
rs569263215	p.Thr1777Ala	missense variant	-	NC_000007.14:g.142103272A>G	1000Genomes,gnomAD
rs778740556	p.Thr1777Met	missense variant	-	NC_000007.14:g.142103273C>T	NCI-TCGA,NCI-TCGA Cosmic
rs778740556	p.Thr1777Met	missense variant	-	NC_000007.14:g.142103273C>T	ExAC,TOPMed,gnomAD
rs116770864	p.Met1778Thr	missense variant	-	NC_000007.14:g.142103276T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs771649432	p.Met1778Leu	missense variant	-	NC_000007.14:g.142103275A>C	ExAC,gnomAD
rs1045545389	p.Ser1780Asn	missense variant	-	NC_000007.14:g.142103282G>A	TOPMed,gnomAD
rs1430116455	p.His1781Tyr	missense variant	-	NC_000007.14:g.142103284C>T	TOPMed,gnomAD
rs746455967	p.His1781Arg	missense variant	-	NC_000007.14:g.142103285A>G	ExAC,gnomAD
rs1335338094	p.Ile1782Met	missense variant	-	NC_000007.14:g.142103289A>G	gnomAD
rs140217455	p.Ile1783Val	missense variant	-	NC_000007.14:g.142103290A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776974464	p.Ile1783Thr	missense variant	-	NC_000007.14:g.142103291T>C	ExAC,TOPMed,gnomAD
COSM3878858	p.Asn1785Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142103297A>T	NCI-TCGA Cosmic
rs1001623928	p.Tyr1787Phe	missense variant	-	NC_000007.14:g.142103303A>T	TOPMed
rs777914137	p.Tyr1787Ter	stop gained	-	NC_000007.14:g.142103303dup	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1790Cys	missense variant	-	NC_000007.14:g.142103311G>T	NCI-TCGA
rs1324902772	p.Gly1790Asp	missense variant	-	NC_000007.14:g.142103312G>A	TOPMed
rs760153555	p.Thr1791Ala	missense variant	-	NC_000007.14:g.142103314A>G	ExAC,gnomAD
rs1298258349	p.Asn1792Asp	missense variant	-	NC_000007.14:g.142103317A>G	TOPMed
NCI-TCGA novel	p.Asn1792His	missense variant	-	NC_000007.14:g.142103317A>C	NCI-TCGA
COSM5915680	p.Pro1793Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142103321C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro1793Ser	missense variant	-	NC_000007.14:g.142103320C>T	NCI-TCGA
rs201177568	p.Leu1794Ser	missense variant	-	NC_000007.14:g.142103324T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1276420880	p.Leu1794Phe	missense variant	-	NC_000007.14:g.142103325G>C	gnomAD
NCI-TCGA novel	p.Leu1796Arg	missense variant	-	NC_000007.14:g.142103330T>G	NCI-TCGA
rs1311599602	p.Ile1799Leu	missense variant	-	NC_000007.14:g.142103338A>C	gnomAD
rs763414236	p.Ile1799Thr	missense variant	-	NC_000007.14:g.142103339T>C	ExAC,gnomAD
rs1311599602	p.Ile1799Val	missense variant	-	NC_000007.14:g.142103338A>G	gnomAD
NCI-TCGA novel	p.Ile1799Asn	missense variant	-	NC_000007.14:g.142103339T>A	NCI-TCGA
rs267601328	p.Glu1800Lys	missense variant	-	NC_000007.14:g.142103341G>A	-
rs267601328	p.Glu1800Lys	missense variant	-	NC_000007.14:g.142103341G>A	NCI-TCGA,NCI-TCGA Cosmic
rs534879249	p.Ile1801Val	missense variant	-	NC_000007.14:g.142103344A>G	1000Genomes,ExAC,gnomAD
COSM1165512	p.Trp1802Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.142103348G>A	NCI-TCGA Cosmic
rs760283646	p.Trp1802Cys	missense variant	-	NC_000007.14:g.142103349G>T	TOPMed,gnomAD
rs373562174	p.Trp1802Leu	missense variant	-	NC_000007.14:g.142103348G>T	ESP,ExAC,TOPMed,gnomAD
rs760283646	p.Trp1802Ter	stop gained	-	NC_000007.14:g.142103349G>A	TOPMed,gnomAD
rs760283646	p.Trp1802Ter	stop gained	-	NC_000007.14:g.142103349G>A	NCI-TCGA
rs373562174	p.Trp1802Ser	missense variant	-	NC_000007.14:g.142103348G>C	ESP,ExAC,TOPMed,gnomAD
rs753708990	p.Val1804Leu	missense variant	-	NC_000007.14:g.142103353G>C	ExAC,gnomAD
rs1375578885	p.Val1804Ala	missense variant	-	NC_000007.14:g.142103354T>C	TOPMed
rs753708990	p.Val1804Leu	missense variant	-	NC_000007.14:g.142103353G>T	ExAC,gnomAD
rs754889220	p.Gly1805Asp	missense variant	-	NC_000007.14:g.142103357G>A	ExAC,gnomAD
rs553324420	p.Ser1806Asn	missense variant	-	NC_000007.14:g.142103360G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs368559734	p.Ser1806Gly	missense variant	-	NC_000007.14:g.142103359A>G	ESP,ExAC,TOPMed,gnomAD
rs533087957	p.Val1807Asp	missense variant	-	NC_000007.14:g.142103363T>A	gnomAD
rs533087957	p.Val1807Ala	missense variant	-	NC_000007.14:g.142103363T>C	gnomAD
COSM3634842	p.Pro1808Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142103366C>T	NCI-TCGA Cosmic
rs1374422639	p.Pro1808Ser	missense variant	-	NC_000007.14:g.142103365C>T	NCI-TCGA Cosmic
rs1374422639	p.Pro1808Ser	missense variant	-	NC_000007.14:g.142103365C>T	TOPMed
rs200374214	p.Val1809Ile	missense variant	-	NC_000007.14:g.142103368G>A	ESP,ExAC,TOPMed,gnomAD
rs1253360261	p.Val1812Phe	missense variant	-	NC_000007.14:g.142103377G>T	gnomAD
rs745381940	p.Ser1815Pro	missense variant	-	NC_000007.14:g.142103386T>C	ExAC,gnomAD
rs770357204	p.Val1816Met	missense variant	-	NC_000007.14:g.142103389G>A	ExAC,gnomAD
rs770357204	p.Val1816Met	missense variant	-	NC_000007.14:g.142103389G>A	NCI-TCGA
rs776172168	p.Ser1817Gly	missense variant	-	NC_000007.14:g.142103392A>G	ExAC,gnomAD
rs1286033944	p.Ser1817Asn	missense variant	-	NC_000007.14:g.142103393G>A	gnomAD
rs763356519	p.Met1819Arg	missense variant	-	NC_000007.14:g.142103399T>G	ExAC,gnomAD
rs1216085434	p.Val1820Ile	missense variant	-	NC_000007.14:g.142103401G>A	gnomAD
rs1292781222	p.Val1820Ala	missense variant	-	NC_000007.14:g.142103402T>C	gnomAD
rs769189278	p.Thr1822Arg	missense variant	-	NC_000007.14:g.142103408C>G	ExAC,gnomAD
COSM3922889	p.Pro1823Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142103410C>T	NCI-TCGA Cosmic
rs528761990	p.Pro1823Leu	missense variant	-	NC_000007.14:g.142103411C>T	ExAC,TOPMed,gnomAD
rs762160028	p.Ser1824Phe	missense variant	-	NC_000007.14:g.142103414C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1824Cys	missense variant	-	NC_000007.14:g.142103414C>G	NCI-TCGA
rs767649344	p.Asn1826Ser	missense variant	-	NC_000007.14:g.142103420A>G	ExAC,TOPMed,gnomAD
rs966346783	p.Asn1826Asp	missense variant	-	NC_000007.14:g.142103419A>G	TOPMed,gnomAD
rs1180682458	p.Asn1827Ser	missense variant	-	NC_000007.14:g.142103423A>G	gnomAD
rs1179488617	p.Asn1827Asp	missense variant	-	NC_000007.14:g.142103422A>G	gnomAD
rs189060335	p.Pro1829Leu	missense variant	-	NC_000007.14:g.142103429C>T	1000Genomes,gnomAD
rs189060335	p.Pro1829Arg	missense variant	-	NC_000007.14:g.142103429C>G	1000Genomes,gnomAD
NCI-TCGA novel	p.Pro1829SerPheSerTerUnk	frameshift	-	NC_000007.14:g.142103427_142103428insAG	NCI-TCGA
rs750453309	p.Thr1830Ala	missense variant	-	NC_000007.14:g.142103431A>G	ExAC,gnomAD
rs750453309	p.Thr1830Ser	missense variant	-	NC_000007.14:g.142103431A>T	ExAC,gnomAD
rs538845634	p.Thr1830Met	missense variant	-	NC_000007.14:g.142103432C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1337461713	p.Thr1831Ala	missense variant	-	NC_000007.14:g.142103434A>G	TOPMed
rs1028696645	p.Gln1832His	missense variant	-	NC_000007.14:g.142103439G>T	TOPMed,gnomAD
rs200238903	p.Gln1832Arg	missense variant	-	NC_000007.14:g.142103438A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1367522321	p.Leu1834Val	missense variant	-	NC_000007.14:g.142105817T>G	TOPMed,gnomAD
COSM6108818	p.Asp1837His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142105826G>C	NCI-TCGA Cosmic
rs1276639282	p.Asp1837Asn	missense variant	-	NC_000007.14:g.142105826G>A	TOPMed,gnomAD
rs1276639282	p.Asp1837Asn	missense variant	-	NC_000007.14:g.142105826G>A	NCI-TCGA Cosmic
rs1172157932	p.Val1838Ala	missense variant	-	NC_000007.14:g.142105830T>C	gnomAD
rs200216128	p.Thr1839Ser	missense variant	-	NC_000007.14:g.142105832A>T	ESP,ExAC,TOPMed,gnomAD
rs1404005252	p.Asp1840Glu	missense variant	-	NC_000007.14:g.142105837C>G	gnomAD
rs1464994716	p.Asp1840Asn	missense variant	-	NC_000007.14:g.142105835G>A	TOPMed,gnomAD
rs1464994716	p.Asp1840Asn	missense variant	-	NC_000007.14:g.142105835G>A	NCI-TCGA
rs1464994716	p.Asp1840His	missense variant	-	NC_000007.14:g.142105835G>C	TOPMed,gnomAD
rs779320204	p.Asp1840Gly	missense variant	-	NC_000007.14:g.142105836A>G	ExAC,gnomAD
COSM2862632	p.Arg1841Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142105839G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn1842Tyr	missense variant	-	NC_000007.14:g.142105841A>T	NCI-TCGA
rs1394063676	p.Ser1844Gly	missense variant	-	NC_000007.14:g.142105847A>G	gnomAD
rs748497040	p.Ser1844Asn	missense variant	-	NC_000007.14:g.142105848G>A	ExAC,gnomAD
rs1483119312	p.His1846Leu	missense variant	-	NC_000007.14:g.142105854A>T	TOPMed,gnomAD
COSM3922892	p.Asn1847Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142105857A>C	NCI-TCGA Cosmic
rs773456429	p.Asn1847Asp	missense variant	-	NC_000007.14:g.142105856A>G	ExAC,TOPMed,gnomAD
rs1276339092	p.Asn1847Ser	missense variant	-	NC_000007.14:g.142105857A>G	gnomAD
NCI-TCGA novel	p.Asn1847His	missense variant	-	NC_000007.14:g.142105856A>C	NCI-TCGA
NCI-TCGA novel	p.Phe1848Val	missense variant	-	NC_000007.14:g.142105859T>G	NCI-TCGA
rs747301445	p.Thr1849Ala	missense variant	-	NC_000007.14:g.142105862A>G	ExAC,gnomAD
rs770988934	p.Ser1850Leu	missense variant	-	NC_000007.14:g.142105866C>T	ExAC,gnomAD
rs1471485437	p.Leu1851Phe	missense variant	-	NC_000007.14:g.142105870G>T	TOPMed
rs370916883	p.Thr1852Met	missense variant	-	NC_000007.14:g.142105872C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370916883	p.Thr1852Met	missense variant	-	NC_000007.14:g.142105872C>T	NCI-TCGA,NCI-TCGA Cosmic
rs370916883	p.Thr1852Lys	missense variant	-	NC_000007.14:g.142105872C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp1853Cys	missense variant	-	NC_000007.14:g.142105876G>T	NCI-TCGA
rs1262920796	p.Ile1854Val	missense variant	-	NC_000007.14:g.142105877A>G	TOPMed,gnomAD
rs1447177148	p.Ser1855Asn	missense variant	-	NC_000007.14:g.142105881G>A	gnomAD
rs751944457	p.LeuTer1857LeuUnk	stop lost	-	NC_000007.14:g.142105889_142105890del	ExAC,TOPMed,gnomAD
rs766083235	p.Met1541Val	missense variant	-	NC_000007.14:g.142065590A>G	ExAC,gnomAD
rs1446233981	p.Glu1543Asp	missense variant	-	NC_000007.14:g.142065598G>T	gnomAD
rs754493483	p.Gly1548Cys	missense variant	-	NC_000007.14:g.142065611G>T	ExAC,gnomAD
rs1276162885	p.Ile1549Leu	missense variant	-	NC_000007.14:g.142065614A>C	gnomAD
rs141258770	p.Tyr1551Cys	missense variant	-	NC_000007.14:g.142065621A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1194895027	p.Tyr1551Ter	stop gained	-	NC_000007.14:g.142065622T>G	gnomAD
rs141258770	p.Tyr1551Phe	missense variant	-	NC_000007.14:g.142065621A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs190699321	p.Thr1552Met	missense variant	-	NC_000007.14:g.142065716C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369348289	p.Ala1554Glu	missense variant	-	NC_000007.14:g.142065722C>A	ESP,ExAC,gnomAD
rs757649811	p.Asp1555Gly	missense variant	-	NC_000007.14:g.142065725A>G	ExAC,TOPMed,gnomAD
rs781714763	p.Ile1556Val	missense variant	-	NC_000007.14:g.142065727A>G	ExAC,TOPMed,gnomAD
rs781714763	p.Ile1556Leu	missense variant	-	NC_000007.14:g.142065727A>C	ExAC,TOPMed,gnomAD
rs1381221752	p.Phe1559Leu	missense variant	-	NC_000007.14:g.142065736T>C	TOPMed,gnomAD
rs746014367	p.Gln1561His	missense variant	-	NC_000007.14:g.142065744A>C	ExAC,gnomAD
rs1230633864	p.Asp1562Gly	missense variant	-	NC_000007.14:g.142065746A>G	gnomAD
rs779989261	p.Ala1563Thr	missense variant	-	NC_000007.14:g.142065748G>A	ExAC,TOPMed,gnomAD
rs749455158	p.Ala1563Val	missense variant	-	NC_000007.14:g.142065749C>T	ExAC,gnomAD
rs771962308	p.Glu1564Ter	stop gained	-	NC_000007.14:g.142065751G>T	ExAC,TOPMed,gnomAD
rs113709751	p.Tyr1565Ter	stop gained	-	NC_000007.14:g.142065756C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs770670125	p.Met1567Ile	missense variant	-	NC_000007.14:g.142065762G>A	ExAC,gnomAD
rs1269600015	p.Met1567Thr	missense variant	-	NC_000007.14:g.142065761T>C	gnomAD
rs1412935226	p.Arg1570His	missense variant	-	NC_000007.14:g.142065770G>A	gnomAD
rs1199033944	p.Arg1570Cys	missense variant	-	NC_000007.14:g.142065769C>T	TOPMed,gnomAD
rs4507684	p.Met1572Leu	missense variant	-	NC_000007.14:g.142065775A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1157384444	p.Gln1573Lys	missense variant	-	NC_000007.14:g.142065778C>A	gnomAD
rs543900522	p.Ala1576Thr	missense variant	-	NC_000007.14:g.142065787G>A	1000Genomes,ExAC,gnomAD
rs1180769382	p.Tyr1578His	missense variant	-	NC_000007.14:g.142065793T>C	gnomAD
rs763720043	p.His1584Arg	missense variant	-	NC_000007.14:g.142065812A>G	ExAC,gnomAD
rs752074238	p.Asn1585Asp	missense variant	-	NC_000007.14:g.142065814A>G	ExAC,gnomAD
rs757846087	p.Asn1585Ser	missense variant	-	NC_000007.14:g.142065815A>G	ExAC,gnomAD
rs756290315	p.Ile1587Thr	missense variant	-	NC_000007.14:g.142065821T>C	ExAC,TOPMed,gnomAD
rs750860358	p.Ile1587Leu	missense variant	-	NC_000007.14:g.142065820A>C	ExAC,gnomAD
rs1245461580	p.Gly1588Arg	missense variant	-	NC_000007.14:g.142065823G>C	gnomAD
rs1258416914	p.Gly1588Glu	missense variant	-	NC_000007.14:g.142065824G>A	TOPMed
rs1267122180	p.Thr1589Asn	missense variant	-	NC_000007.14:g.142065827C>A	gnomAD
rs561932269	p.Arg1590Ser	missense variant	-	NC_000007.14:g.142065831G>T	1000Genomes,ExAC,gnomAD
rs780367985	p.Arg1590Gly	missense variant	-	NC_000007.14:g.142065829A>G	ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002736	Amyotrophic Lateral Sclerosis	disease	BEFREE
C0002986	Fabry Disease	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE
C0007194	Hypertrophic Cardiomyopathy	disease	BEFREE
C0011849	Diabetes Mellitus	group	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0017919	Glycogen Storage Disease	group	BEFREE
C0017921	Glycogen storage disease type II	disease	BEFREE
C0019104	Hemorrhagic Fevers, Viral	group	BEFREE
C0026848	Myopathy	group	BEFREE
C0026850	Muscular Dystrophy	disease	BEFREE
C0030552	Paresis	phenotype	BEFREE
C0085078	Lysosomal Storage Diseases	group	BEFREE
C0151786	Muscle Weakness	phenotype	BEFREE
C0259817	Xerosis	disease	BEFREE
C0264492	Chronic respiratory failure	disease	BEFREE
C0270984	Metabolic myopathy	group	BEFREE
C0342751	Generalized glycogen storage disease of infants	disease	BEFREE
C0403814	Congenital bilateral aplasia of vas deferens	disease	BEFREE
C0751173	Glycogen Storage Disease Type II, Infantile	disease	BEFREE
C0878544	Cardiomyopathies	group	BEFREE
C1145670	Respiratory Failure	disease	BEFREE
C4023106	Obstructive azoospermia	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003824	catalytic activity	TAS
GO:0004339	glucan 1,4-alpha-glucosidase activity	IEA
GO:0016160	amylase activity	IEA
GO:0030246	carbohydrate binding	IEA
GO:0032450	maltose alpha-glucosidase activity	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000023	maltose metabolic process	IEA
GO:0005983	starch catabolic process	TAS
GO:0043312	neutrophil degranulation	TAS
GO:0044245	polysaccharide digestion	TAS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005886	plasma membrane	TAS
GO:0016021	integral component of membrane	IEA
GO:0016324	apical plasma membrane	IEA
GO:0070062	extracellular exosome	HDA
GO:0070821	tertiary granule membrane	TAS
GO:0101003	ficolin-1-rich granule membrane	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-168249	Innate Immune System	TAS
R-HSA-168256	Immune System	TAS
R-HSA-189085	Digestion of dietary carbohydrate	TAS
R-HSA-6798695	Neutrophil degranulation	TAS
R-HSA-8935690	Digestion	TAS
R-HSA-8963743	Digestion and absorption	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in decreased expression of MGAM mRNA	25614096
C496492	abrine	abrine results in decreased expression of MGAM mRNA	31054353
D020909	Acarbose	Acarbose results in decreased activity of MGAM protein	20349118
D020909	Acarbose	Acarbose results in decreased activity of MGAM protein	17585022
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of MGAM mRNA	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of MGAM mRNA	19770486
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of MGAM intron	30157460
D000393	Air Pollutants	Air Pollutants analog results in decreased expression of MGAM mRNA	21757418
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of MGAM mRNA	24449571
C487081	belinostat	belinostat results in decreased expression of MGAM mRNA	27188386
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of MGAM mRNA	22178795
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of MGAM mRNA	19770486
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in increased expression of MGAM mRNA	26377693
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of MGAM intron	30157460
C006780	bisphenol A	bisphenol A results in increased expression of MGAM mRNA	29275510
C006780	bisphenol A	bisphenol A results in decreased expression of MGAM mRNA	26063408
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of MGAM mRNA	26472689
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of MGAM mRNA	26314618
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of MGAM mRNA	23741332
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of MGAM mRNA	27339419
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of MGAM mRNA	20938992
C074702	chromium hexavalent ion	chromium hexavalent ion affects the expression of MGAM mRNA	28472532
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of MGAM mRNA	27392435
D002994	Clofibrate	Clofibrate results in decreased expression of MGAM mRNA	23811191
D002994	Clofibrate	Clofibrate results in decreased expression of MGAM mRNA	22300585
D016572	Cyclosporine	Cyclosporine results in decreased expression of MGAM mRNA	27989131
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of MGAM mRNA	21266533
C036042	dicyclohexyl phthalate	dicyclohexyl phthalate results in decreased expression of MGAM mRNA	26924002
C024629	dimethyl phthalate	dimethyl phthalate results in decreased expression of MGAM mRNA	26924002
D017313	Fenretinide	Fenretinide results in increased expression of MGAM mRNA	28973697
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of MGAM mRNA	20938992
D005947	Glucose	[MGAM protein results in increased metabolism of maltodextrin] which results in increased abundance of Glucose	17585022
D005947	Glucose	[MGAM protein results in increased metabolism of Maltose] which results in increased abundance of Glucose	17585022
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of MGAM mRNA	27392435
C544151	jinfukang	jinfukang results in decreased expression of MGAM mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of MGAM mRNA	27432991
C008315	maltodextrin	MGAM protein results in increased metabolism of maltodextrin	17585022
C008315	maltodextrin	[MGAM protein results in increased metabolism of maltodextrin] which results in increased abundance of Glucose	17585022
D008320	Maltose	MGAM protein results in increased metabolism of Maltose	17585022
D008320	Maltose	[MGAM protein results in increased metabolism of Maltose] which results in increased abundance of Glucose	17585022
C009819	maltotetraose	MGAM protein results in increased metabolism of maltotetraose	22803678
C009819	maltotetraose	nimbidiol inhibits the reaction [MGAM protein results in increased metabolism of maltotetraose]	22803678
D008701	Methapyrilene	Methapyrilene results in increased methylation of MGAM intron	30157460
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of MGAM mRNA	20938992
C517284	monomethyl phthalate	monomethyl phthalate results in decreased expression of MGAM mRNA	26924002
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of MGAM mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of MGAM mRNA	25620056
C496111	nimbidiol	nimbidiol inhibits the reaction [MGAM protein results in increased metabolism of maltotetraose]	22803678
C496111	nimbidiol	nimbidiol results in decreased activity of MGAM protein	22803678
C572573	N-nitroso-tris-chloroethylurea	[N-nitroso-tris-chloroethylurea co-treated with Pioglitazone] results in increased expression of MGAM mRNA	27935865
C572573	N-nitroso-tris-chloroethylurea	[N-nitroso-tris-chloroethylurea co-treated with XL147] results in increased expression of MGAM mRNA	27935865
D000077205	Pioglitazone	[N-nitroso-tris-chloroethylurea co-treated with Pioglitazone] results in increased expression of MGAM mRNA	27935865
C550268	ponkoranol	ponkoranol analog results in decreased activity of MGAM protein	20801033
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of MGAM mRNA	23608068
D011285	Pregnenolone Carbonitrile	Pregnenolone Carbonitrile results in decreased expression of MGAM mRNA	28903501
D012402	Rotenone	Rotenone results in decreased expression of MGAM mRNA	28374803
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of MGAM mRNA	25895662
C017947	sodium arsenite	sodium arsenite results in increased expression of MGAM mRNA	29301061
D013213	Starch	MGAM protein results in increased metabolism of Starch	17585022
D013452	Sulfonium Compounds	Sulfonium Compounds results in decreased activity of MGAM protein	17316580
C016766	sulforafan	sulforafan results in increased expression of MGAM mRNA	26833863
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of MGAM mRNA	29704546
C009495	titanium dioxide	titanium dioxide results in increased expression of MGAM mRNA	23557971
D014520	Urethane	Urethane results in increased expression of MGAM mRNA	28818685
D014635	Valproic Acid	Valproic Acid results in decreased expression of MGAM mRNA	29154799
D014638	Vanadates	Vanadates results in increased expression of MGAM mRNA	22714537
D014640	Vancomycin	Vancomycin results in increased expression of MGAM mRNA	18930951
C581157	XL147	[N-nitroso-tris-chloroethylurea co-treated with XL147] results in increased expression of MGAM mRNA	27935865

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-1003	Cell membrane
KW-0903	Direct protein sequencing
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0326	Glycosidase
KW-0378	Hydrolase
KW-0472	Membrane
KW-0511	Multifunctional enzyme
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0735	Signal-anchor
KW-0765	Sulfation
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR031727	Gal_mutarotase_N
IPR011013	Gal_mutarotase_sf_dom
IPR000322	Glyco_hydro_31
IPR030458	Glyco_hydro_31_AS
IPR030459	Glyco_hydro_31_CS
IPR013780	Glyco_hydro_b
IPR017853	Glycoside_hydrolase_SF
IPR017957	P_trefoil_CS
IPR000519	P_trefoil_dom

PROSITE

PROSITE ID	PROSITE Term
PS00129	GLYCOSYL_HYDROL_F31_1
PS00707	GLYCOSYL_HYDROL_F31_2
PS00025	P_TREFOIL_1
PS51448	P_TREFOIL_2

Pfam

Pfam ID	Pfam Term
PF01055	Glyco_hydro_31
PF16863	NtCtMGAM_N
PF00088	Trefoil

Gene: MGAM

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

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