CleftGeneDB-Search

Gene: HECTD1

Basic information

Tag	Content
Uniprot ID	Q9ULT8; D3DS86; Q6P445; Q86VJ1; Q96F34; Q9UFZ7;
Entrez ID	25831
Genbank protein ID	AAH11658.2; EAW65952.1; BAA86445.2; AAH63686.1; CAB53681.1; EAW65950.1; AAP13073.1;
Genbank nucleotide ID	NM_015382.3; XM_005267502.2;
Ensembl protein ID	ENSP00000450697; ENSP00000382269;
Ensembl nucleotide ID	ENSG00000092148
Gene name	E3 ubiquitin-protein ligase HECTD1
Gene symbol	HECTD1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26868259
Functional description	E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates 'Lys-63'-linked polyubiquitination of HSP90AA1 which leads to its intracellular localization and reduced secretion. Negatively regulating HSP90AA1 secretion in cranial mesenchyme cells may impair their emigration and may be essential for the correct development of the cranial neural folds and neural tube closure.
Sequence	MADVDPDTLL EWLQMGQGDE RDMQLIALEQ LCMLLLMSDN VDRCFETCPP RTFLPALCKI 60 FLDESAPDNV LEVTARAITY YLDVSAECTR RIVGVDGAIK ALCNRLVVVE LNNRTSRDLA 120 EQCVKVLELI CTRESGAVFE AGGLNCVLTF IRDSGHLVHK DTLHSAMAVV SRLCGKMEPQ 180 DSSLEICVES LSSLLKHEDH QVSDGALRCF ASLADRFTRR GVDPAPLAKH GLTEELLSRM 240 AAAGGTVSGP SSACKPGRST TGAPSTTADS KLSNQVSTIV SLLSTLCRGS PVVTHDLLRS 300 ELPDSIESAL QGDERCVLDT MRLVDLLLVL LFEGRKALPK SSAGSTGRIP GLRRLDSSGE 360 RSHRQLIDCI RSKDTDALID AIDTGAFEVN FMDDVGQTLL NWASAFGTQE MVEFLCERGA 420 DVNRGQRSSS LHYAACFGRP QVAKTLLRHG ANPDLRDEDG KTPLDKARER GHSEVVAILQ 480 SPGDWMCPVN KGDDKKKKDT NKDEEECNEP KGDPEMAPIY LKRLLPVFAQ TFQQTMLPSI 540 RKASLALIRK MIHFCSEALL KEVCDSDVGH NLPTILVEIT ATVLDQEDDD DGHLLALQII 600 RDLVDKGGDI FLDQLARLGV ISKVSTLAGP SSDDENEEES KPEKEDEPQE DAKELQQGKP 660 YHWRDWSIIR GRDCLYIWSD AAALELSNGS NGWFRFILDG KLATMYSSGS PEGGSDSSES 720 RSEFLEKLQR ARGQVKPSTS SQPILSAPGP TKLTVGNWSL TCLKEGEIAI HNSDGQQATI 780 LKEDLPGFVF ESNRGTKHSF TAETSLGSEF VTGWTGKRGR KLKSKLEKTK QKVRTMARDL 840 YDDHFKAVES MPRGVVVTLR NIATQLESSW ELHTNRQCIE SENTWRDLMK TALENLIVLL 900 KDENTISPYE MCSSGLVQAL LTVLNNSMDL DMKQDCSQLV ERINVFKTAF SENEDDESRP 960 AVALIRKLIA VLESIERLPL HLYDTPGSTY NLQILTRRLR FRLERAPGET ALIDRTGRML 1020 KMEPLATVES LEQYLLKMVA KQWYDFDRSS FVFVRKLREG QNFIFRHQHD FDENGIIYWI 1080 GTNAKTAYEW VNPAAYGLVV VTSSEGRNLP YGRLEDILSR DNSALNCHSN DDKNAWFAID 1140 LGLWVIPSAY TLRHARGYGR SALRNWVFQV SKDGQNWTSL YTHVDDCSLN EPGSTATWPL 1200 DPPKDEKQGW RHVRIKQMGK NASGQTHYLS LSGFELYGTV NGVCEDQLGK AAKEAEANLR 1260 RQRRLVRSQV LKYMVPGARV IRGLDWKWRD QDGSPQGEGT VTGELHNGWI DVTWDAGGSN 1320 SYRMGAEGKF DLKLAPGYDP DTVASPKPVS STVSGTTQSW SSLVKNNCPD KTSAAAGSSS 1380 RKGSSSSVCS VASSSDISLG STKTERRSEI VMEHSIVSGA DVHEPIVVLS SAENVPQTEV 1440 GSSSSASTST LTAETGSENA ERKLGPDSSV RTPGESSAIS MGIVSVSSPD VSSVSELTNK 1500 EAASQRPLSS SASNRLSVSS LLAAGAPMSS SASVPNLSSR ETSSLESFVR RVANIARTNA 1560 TNNMNLSRSS SDNNTNTLGR NVMSTATSPL MGAQSFPNLT TPGTTSTVTM STSSVTSSSN 1620 VATATTVLSV GQSLSNTLTT SLTSTSSESD TGQEAEYSLY DFLDSCRAST LLAELDDDED 1680 LPEPDEEDDE NEDDNQEDQE YEEVMILRRP SLQRRAGSRS DVTHHAVTSQ LPQVPAGAGS 1740 RPIGEQEEEE YETKGGRRRT WDDDYVLKRQ FSALVPAFDP RPGRTNVQQT TDLEIPPPGT 1800 PHSELLEEVE CTPSPRLALT LKVTGLGTTR EVELPLTNFR STIFYYVQKL LQLSCNGNVK 1860 SDKLRRIWEP TYTIMYREMK DSDKEKENGK MGCWSIEHVE QYLGTDELPK NDLITYLQKN 1920 ADAAFLRHWK LTGTNKSIRK NRNCSQLIAA YKDFCEHGTK SGLNQGAIST LQSSDILNLT 1980 KEQPQAKAGN GQNSCGVEDV LQLLRILYIV ASDPYSRISQ EDGDEQLQFT FPPDEFTSKK 2040 ITTKILQQIE EPLALASGAL PDWCEQLTSK CPFLIPFETR QLYFTCTAFG ASRAIVWLQN 2100 RREATVERTR TTSSVRRDDP GEFRVGRLKH ERVKVPRGES LMEWAENVMQ IHADRKSVLE 2160 VEFLGEEGTG LGPTLEFYAL VAAEFQRTDL GAWLCDDNFP DDESRHVDLG GGLKPPGYYV 2220 QRSCGLFTAP FPQDSDELER ITKLFHFLGI FLAKCIQDNR LVDLPISKPF FKLMCMGDIK 2280 SNMSKLIYES RGDRDLHCTE SQSEASTEEG HDSLSVGSFE EDSKSEFILD PPKPKPPAWF 2340 NGILTWEDFE LVNPHRARFL KEIKDLAIKR RQILSNKGLS EDEKNTKLQE LVLKNPSGSG 2400 PPLSIEDLGL NFQFCPSSRI YGFTAVDLKP SGEDEMITMD NAEEYVDLMF DFCMHTGIQK 2460 QMEAFRDGFN KVFPMEKLSS FSHEEVQMIL CGNQSPSWAA EDIINYTEPK LGYTRDSPGF 2520 LRFVRVLCGM SSDERKAFLQ FTTGCSTLPP GGLANLHPRL TVVRKVDATD ASYPSVNTCV 2580 HYLKLPEYSS EEIMRERLLA ATMEKGFHLN

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
2DK3
2LC3
3DKM
2DK3
2LC3

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1357987642	p.Ala2Thr	missense variant	-	NC_000014.9:g.31205933C>T	gnomAD
rs968038537	p.Asp3His	missense variant	-	NC_000014.9:g.31205930C>G	TOPMed
rs755264541	p.Val4Met	missense variant	-	NC_000014.9:g.31205927C>T	ExAC,gnomAD
rs751742308	p.Leu9Phe	missense variant	-	NC_000014.9:g.31205910C>A	ExAC,gnomAD
rs764174252	p.Gln14His	missense variant	-	NC_000014.9:g.31205895C>A	ExAC,gnomAD
rs760672938	p.Gly16Glu	missense variant	-	NC_000014.9:g.31205890C>T	ExAC,TOPMed,gnomAD
rs891402149	p.Met23Ile	missense variant	-	NC_000014.9:g.31205868C>T	TOPMed
rs775489494	p.Gln24Glu	missense variant	-	NC_000014.9:g.31205867G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile26Leu	missense variant	-	NC_000014.9:g.31205861T>G	NCI-TCGA
rs759276303	p.Ala27Ser	missense variant	-	NC_000014.9:g.31205858C>A	ExAC,gnomAD
rs774004940	p.Ala27Val	missense variant	-	NC_000014.9:g.31205857G>A	ExAC,gnomAD
COSM3401287	p.Leu28Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31205855G>A	NCI-TCGA Cosmic
rs371543287	p.Met37Val	missense variant	-	NC_000014.9:g.31205828T>C	ESP,ExAC,gnomAD
rs770345112	p.Ser38Cys	missense variant	-	NC_000014.9:g.31205824G>C	ExAC,gnomAD
rs1331704540	p.Arg43Ser	missense variant	-	NC_000014.9:g.31205810G>T	TOPMed,gnomAD
rs748653003	p.Phe45Cys	missense variant	-	NC_000014.9:g.31205803A>C	ExAC,gnomAD
COSM433003	p.Thr47Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31205797G>C	NCI-TCGA Cosmic
rs1298909949	p.Cys48Phe	missense variant	-	NC_000014.9:g.31178252C>A	gnomAD
COSM1323514	p.Pro50Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31178247G>T	NCI-TCGA Cosmic
rs769042936	p.Arg51His	missense variant	-	NC_000014.9:g.31178243C>T	ExAC
rs1357433153	p.Thr52Ala	missense variant	-	NC_000014.9:g.31178241T>C	gnomAD
rs780265122	p.Phe53Tyr	missense variant	-	NC_000014.9:g.31178237A>T	ExAC,gnomAD
rs1436485905	p.Leu54Ser	missense variant	-	NC_000014.9:g.31178234A>G	TOPMed,gnomAD
rs1260600161	p.Pro55Ser	missense variant	-	NC_000014.9:g.31178232G>A	TOPMed
COSM955275	p.Leu62Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31178211G>T	NCI-TCGA Cosmic
rs746008215	p.Glu64Lys	missense variant	-	NC_000014.9:g.31178205C>T	ExAC,TOPMed,gnomAD
rs779146625	p.Ala66Gly	missense variant	-	NC_000014.9:g.31178198G>C	ExAC,gnomAD
rs757361288	p.Asn69Ser	missense variant	-	NC_000014.9:g.31178189T>C	ExAC,TOPMed,gnomAD
rs757361288	p.Asn69Ile	missense variant	-	NC_000014.9:g.31178189T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu72Asp	missense variant	-	NC_000014.9:g.31178179C>A	NCI-TCGA
rs754849406	p.Arg76His	missense variant	-	NC_000014.9:g.31178168C>T	ExAC,gnomAD
rs781317618	p.Arg76Cys	missense variant	-	NC_000014.9:g.31178169G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala77Thr	missense variant	-	NC_000014.9:g.31178166C>T	NCI-TCGA
rs910987727	p.Ile78Met	missense variant	-	NC_000014.9:g.31178161T>C	TOPMed
NCI-TCGA novel	p.Ile78Val	missense variant	-	NC_000014.9:g.31178163T>C	NCI-TCGA
rs1285807223	p.Thr79Lys	missense variant	-	NC_000014.9:g.31178159G>T	gnomAD
rs751429096	p.Thr79Ala	missense variant	-	NC_000014.9:g.31178160T>C	ExAC,gnomAD
rs1307980432	p.Ala86Val	missense variant	-	NC_000014.9:g.31178138G>A	gnomAD
rs1377138557	p.Arg90Gln	missense variant	-	NC_000014.9:g.31178126C>T	TOPMed,gnomAD
rs1171266727	p.Arg90Ter	stop gained	-	NC_000014.9:g.31178127G>A	TOPMed
rs1286003091	p.Gly94Val	missense variant	-	NC_000014.9:g.31178114C>A	gnomAD
rs1376024973	p.Val95Ile	missense variant	-	NC_000014.9:g.31178112C>T	gnomAD
rs1417647846	p.Ile99Met	missense variant	-	NC_000014.9:g.31178098T>C	gnomAD
rs1297454875	p.Ile99Val	missense variant	-	NC_000014.9:g.31178100T>C	gnomAD
rs1175145295	p.Arg105His	missense variant	-	NC_000014.9:g.31178081C>T	TOPMed,gnomAD
rs377423641	p.Arg105Gly	missense variant	-	NC_000014.9:g.31178082G>C	ESP,ExAC,TOPMed,gnomAD
rs377423641	p.Arg105Cys	missense variant	-	NC_000014.9:g.31178082G>A	ESP,ExAC,TOPMed,gnomAD
rs1452174541	p.Leu106Phe	missense variant	-	NC_000014.9:g.31178077C>A	gnomAD
rs1450497479	p.Val107Ile	missense variant	-	NC_000014.9:g.31178076C>T	TOPMed
rs1159468315	p.Val108Leu	missense variant	-	NC_000014.9:g.31178073C>G	gnomAD
rs1252839664	p.Leu111Phe	missense variant	-	NC_000014.9:g.31178064G>A	gnomAD
COSM955272	p.Asn113Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31178057T>C	NCI-TCGA Cosmic
rs769259996	p.Asn113Lys	missense variant	-	NC_000014.9:g.31178056G>C	ExAC,TOPMed,gnomAD
rs761079916	p.Thr115Ile	missense variant	-	NC_000014.9:g.31178051G>A	ExAC,gnomAD
rs775924105	p.Ser116Arg	missense variant	-	NC_000014.9:g.31178047G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu121Lys	missense variant	-	NC_000014.9:g.31178034C>T	NCI-TCGA
rs779236772	p.Lys125Asn	missense variant	-	NC_000014.9:g.31178020C>G	ExAC,gnomAD
rs373938352	p.Cys131Arg	missense variant	-	NC_000014.9:g.31175123A>G	ESP,ExAC,TOPMed,gnomAD
rs373938352	p.Cys131Ser	missense variant	-	NC_000014.9:g.31175123A>T	ESP,ExAC,TOPMed,gnomAD
rs1386033074	p.Arg133Cys	missense variant	-	NC_000014.9:g.31175117G>A	gnomAD
rs1365139543	p.Arg133His	missense variant	-	NC_000014.9:g.31175116C>T	gnomAD
rs1366925392	p.Ala141Val	missense variant	-	NC_000014.9:g.31175092G>A	TOPMed
rs746991269	p.Ala141Ser	missense variant	-	NC_000014.9:g.31175093C>A	ExAC,gnomAD
rs779819825	p.Gly142Asp	missense variant	-	NC_000014.9:g.31175089C>T	ExAC,TOPMed
rs1316166729	p.Cys146Ser	missense variant	-	NC_000014.9:g.31175077C>G	gnomAD
rs557388730	p.Thr149Ile	missense variant	-	NC_000014.9:g.31175068G>A	1000Genomes
rs753427362	p.Phe150Leu	missense variant	-	NC_000014.9:g.31175064G>T	ExAC,gnomAD
rs947748658	p.Phe150Leu	missense variant	-	NC_000014.9:g.31175066A>G	TOPMed,gnomAD
rs920316638	p.Arg152Cys	missense variant	-	NC_000014.9:g.31175060G>A	gnomAD
rs199851699	p.Arg152His	missense variant	-	NC_000014.9:g.31175059C>T	gnomAD
rs755537481	p.His156Arg	missense variant	-	NC_000014.9:g.31175047T>C	ExAC,gnomAD
rs1282132072	p.Leu157Val	missense variant	-	NC_000014.9:g.31175045G>C	TOPMed
rs752220141	p.Leu157Arg	missense variant	-	NC_000014.9:g.31175044A>C	ExAC,gnomAD
rs760107123	p.Asp161Asn	missense variant	-	NC_000014.9:g.31175033C>T	ExAC,gnomAD
rs766784775	p.His164Gln	missense variant	-	NC_000014.9:g.31175022G>C	ExAC,gnomAD
COSM5596835	p.Ser165Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31175020G>A	NCI-TCGA Cosmic
rs1394080835	p.Ala166Thr	missense variant	-	NC_000014.9:g.31175018C>T	gnomAD
rs1305324312	p.Met167Val	missense variant	-	NC_000014.9:g.31175015T>C	gnomAD
NCI-TCGA novel	p.Met167Ile	missense variant	-	NC_000014.9:g.31175013C>T	NCI-TCGA
rs1216593230	p.Ala168Val	missense variant	-	NC_000014.9:g.31175011G>A	TOPMed
rs201192053	p.Val169Gly	missense variant	-	NC_000014.9:g.31175008A>C	ExAC,gnomAD
rs773261934	p.Val170Ala	missense variant	-	NC_000014.9:g.31175005A>G	ExAC,TOPMed,gnomAD
rs773261934	p.Val170Gly	missense variant	-	NC_000014.9:g.31175005A>C	ExAC,TOPMed,gnomAD
COSM4824286	p.Ser171Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31175002G>A	NCI-TCGA Cosmic
rs1168088104	p.Cys174Phe	missense variant	-	NC_000014.9:g.31174993C>A	gnomAD
COSM4824140	p.Gln180Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31174976G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp181Asn	missense variant	-	NC_000014.9:g.31174973C>T	NCI-TCGA
rs1464972687	p.Ile186Val	missense variant	-	NC_000014.9:g.31174958T>C	gnomAD
rs1479249132	p.Cys187Arg	missense variant	-	NC_000014.9:g.31174955A>G	TOPMed
rs748220289	p.Val188Leu	missense variant	-	NC_000014.9:g.31174952C>A	ExAC,gnomAD
rs776754195	p.Ser190Ala	missense variant	-	NC_000014.9:g.31174946A>C	ExAC,TOPMed,gnomAD
rs1439432421	p.Ser193Gly	missense variant	-	NC_000014.9:g.31174937T>C	gnomAD
rs748262676	p.His197Tyr	missense variant	-	NC_000014.9:g.31174925G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp199Tyr	missense variant	-	NC_000014.9:g.31174919C>A	NCI-TCGA
rs1419812863	p.Gln201Arg	missense variant	-	NC_000014.9:g.31174912T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ser203Leu	missense variant	-	NC_000014.9:g.31173802G>A	NCI-TCGA
rs1206579018	p.Asp204Gly	missense variant	-	NC_000014.9:g.31173799T>C	gnomAD
rs750772670	p.Ala206Gly	missense variant	-	NC_000014.9:g.31173793G>C	ExAC,TOPMed,gnomAD
rs1355980674	p.Arg208Ter	stop gained	-	NC_000014.9:g.31173788G>A	gnomAD
rs1230953179	p.Phe210Leu	missense variant	-	NC_000014.9:g.31173782A>G	gnomAD
rs1356753285	p.Phe210Ser	missense variant	-	NC_000014.9:g.31173781A>G	gnomAD
rs765429669	p.Ala211Thr	missense variant	-	NC_000014.9:g.31173779C>T	ExAC,TOPMed,gnomAD
rs762086563	p.Ala211Val	missense variant	-	NC_000014.9:g.31173778G>A	ExAC,gnomAD
rs765429669	p.Ala211Pro	missense variant	-	NC_000014.9:g.31173779C>G	ExAC,TOPMed,gnomAD
rs1182294103	p.Leu213Val	missense variant	-	NC_000014.9:g.31173773G>C	TOPMed
rs768662476	p.Ala214Ser	missense variant	-	NC_000014.9:g.31173770C>A	ExAC,TOPMed,gnomAD
rs768662476	p.Ala214Thr	missense variant	-	NC_000014.9:g.31173770C>T	ExAC,TOPMed,gnomAD
rs1162349492	p.Phe217Leu	missense variant	-	NC_000014.9:g.31173761A>G	TOPMed
rs1161621384	p.Arg219Cys	missense variant	-	NC_000014.9:g.31173755G>A	gnomAD
rs1161621384	p.Arg219Ser	missense variant	-	NC_000014.9:g.31173755G>T	gnomAD
rs770821753	p.Arg220Pro	missense variant	-	NC_000014.9:g.31173751C>G	ExAC,TOPMed,gnomAD
rs1463082528	p.Arg220Cys	missense variant	-	NC_000014.9:g.31173752G>A	TOPMed,gnomAD
rs770821753	p.Arg220His	missense variant	-	NC_000014.9:g.31173751C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly221Asp	missense variant	-	NC_000014.9:g.31173748C>T	NCI-TCGA
rs749085670	p.Val222Ile	missense variant	-	NC_000014.9:g.31173746C>T	ExAC,gnomAD
rs769399672	p.His230Arg	missense variant	-	NC_000014.9:g.31173721T>C	ExAC,gnomAD
rs780863986	p.Glu234Gly	missense variant	-	NC_000014.9:g.31173709T>C	ExAC,gnomAD
rs780863986	p.Glu234Ala	missense variant	-	NC_000014.9:g.31173709T>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu234Lys	missense variant	-	NC_000014.9:g.31173710C>T	NCI-TCGA
rs368167266	p.Glu235Gln	missense variant	-	NC_000014.9:g.31173707C>G	ESP,ExAC,TOPMed,gnomAD
rs1211365515	p.Leu236Met	missense variant	-	NC_000014.9:g.31173704G>T	gnomAD
rs1244331041	p.Ser238Pro	missense variant	-	NC_000014.9:g.31173698A>G	TOPMed
rs780749251	p.Ser238Phe	missense variant	-	NC_000014.9:g.31173697G>A	ExAC,gnomAD
COSM5644639	p.Arg239Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31173694C>T	NCI-TCGA Cosmic
rs758956415	p.Arg239Pro	missense variant	-	NC_000014.9:g.31173694C>G	ExAC,gnomAD
rs750814103	p.Met240Thr	missense variant	-	NC_000014.9:g.31173691A>G	ExAC,gnomAD
rs1272379275	p.Ala241Gly	missense variant	-	NC_000014.9:g.31173688G>C	gnomAD
rs765566192	p.Ala242Thr	missense variant	-	NC_000014.9:g.31173686C>T	ExAC,TOPMed,gnomAD
rs761950733	p.Ala243Gly	missense variant	-	NC_000014.9:g.31173682G>C	ExAC,TOPMed
rs769560642	p.Gly244Ala	missense variant	-	NC_000014.9:g.31173679C>G	TOPMed
rs769560642	p.Gly244Val	missense variant	-	NC_000014.9:g.31173679C>A	TOPMed
rs530361249	p.Gly245Ser	missense variant	-	NC_000014.9:g.31173677C>T	1000Genomes
rs1274484679	p.Thr246Ala	missense variant	-	NC_000014.9:g.31173674T>C	TOPMed
rs1394856116	p.Val247Ile	missense variant	-	NC_000014.9:g.31173671C>T	TOPMed,gnomAD
rs1394856116	p.Val247Phe	missense variant	-	NC_000014.9:g.31173671C>A	TOPMed,gnomAD
rs754039409	p.Ser248Thr	missense variant	-	NC_000014.9:g.31173668A>T	ExAC,TOPMed,gnomAD
rs764188042	p.Gly249Arg	missense variant	-	NC_000014.9:g.31173665C>T	ExAC
rs559636254	p.Ala253Val	missense variant	-	NC_000014.9:g.31173652G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1330727288	p.Ala253Thr	missense variant	-	NC_000014.9:g.31173653C>T	gnomAD
rs1169523562	p.Arg258Ser	missense variant	-	NC_000014.9:g.31173638G>T	TOPMed,gnomAD
rs1475623242	p.Arg258His	missense variant	-	NC_000014.9:g.31173637C>T	gnomAD
rs1475623242	p.Arg258Pro	missense variant	-	NC_000014.9:g.31173637C>G	gnomAD
rs1169523562	p.Arg258Cys	missense variant	-	NC_000014.9:g.31173638G>A	TOPMed,gnomAD
rs772887598	p.Ser259Gly	missense variant	-	NC_000014.9:g.31173635T>C	ExAC,gnomAD
rs1469506800	p.Thr260Ala	missense variant	-	NC_000014.9:g.31173632T>C	gnomAD
NCI-TCGA novel	p.Gly262Ter	stop gained	-	NC_000014.9:g.31173626C>A	NCI-TCGA
rs1197480746	p.Pro264Ser	missense variant	-	NC_000014.9:g.31173620G>A	gnomAD
rs747779930	p.Thr266Ile	missense variant	-	NC_000014.9:g.31173613G>A	ExAC,gnomAD
NCI-TCGA novel	p.Thr266IlePheSerTerUnk	stop gained	-	NC_000014.9:g.31173613_31173614insCCTTTCTTATAGTGTCAGTA	NCI-TCGA
rs780953774	p.Asp269Glu	missense variant	-	NC_000014.9:g.31173603A>C	ExAC,TOPMed,gnomAD
rs746570962	p.Ser270Cys	missense variant	-	NC_000014.9:g.31173601G>C	ExAC,gnomAD
rs768394767	p.Ser270Ala	missense variant	-	NC_000014.9:g.31173602A>C	ExAC,gnomAD
rs1236823878	p.Lys271Arg	missense variant	-	NC_000014.9:g.31173598T>C	gnomAD
rs758830368	p.Gln275His	missense variant	-	NC_000014.9:g.31173585C>G	ExAC,TOPMed,gnomAD
rs376479630	p.Ile279Val	missense variant	-	NC_000014.9:g.31173575T>C	ESP,TOPMed,gnomAD
rs757599875	p.Val280Leu	missense variant	-	NC_000014.9:g.31173572C>A	ExAC,gnomAD
rs776378066	p.Leu283Phe	missense variant	-	NC_000014.9:g.31173563G>A	ExAC,gnomAD
COSM3495681	p.Thr285Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31173557T>A	NCI-TCGA Cosmic
rs1374666287	p.Thr285Ile	missense variant	-	NC_000014.9:g.31173556G>A	gnomAD
rs1233459661	p.Gly289Cys	missense variant	-	NC_000014.9:g.31173545C>A	gnomAD
rs767519029	p.Pro291Gln	missense variant	-	NC_000014.9:g.31173538G>T	ExAC,TOPMed,gnomAD
rs767519029	p.Pro291Leu	missense variant	-	NC_000014.9:g.31173538G>A	ExAC,TOPMed,gnomAD
rs762813133	p.Thr294Ala	missense variant	-	NC_000014.9:g.31173530T>C	ExAC,TOPMed,gnomAD
rs1205891895	p.His295Arg	missense variant	-	NC_000014.9:g.31173526T>C	gnomAD
COSM3495680	p.Leu297Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31173423G>A	NCI-TCGA Cosmic
rs1262908036	p.Leu298Gln	missense variant	-	NC_000014.9:g.31173419A>T	gnomAD
rs756333643	p.Ser300Leu	missense variant	-	NC_000014.9:g.31173413G>A	ExAC,gnomAD
rs767518218	p.Glu301Asp	missense variant	-	NC_000014.9:g.31173409C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu301Ter	stop gained	-	NC_000014.9:g.31173411_31173412insTTAAGTCCAGGCACCGTGGCTCA	NCI-TCGA
rs751564416	p.Asp304Glu	missense variant	-	NC_000014.9:g.31173400A>C	ExAC,gnomAD
rs565368987	p.Asp304Gly	missense variant	-	NC_000014.9:g.31173401T>C	1000Genomes
NCI-TCGA novel	p.Asp304Tyr	missense variant	-	NC_000014.9:g.31173402C>A	NCI-TCGA
rs374471717	p.Ser308Gly	missense variant	-	NC_000014.9:g.31173390T>C	ESP,ExAC,TOPMed,gnomAD
rs761832448	p.Ser308Thr	missense variant	-	NC_000014.9:g.31173389C>G	ExAC,TOPMed,gnomAD
rs371330817	p.Gln311Glu	missense variant	-	NC_000014.9:g.31173381G>C	ESP,ExAC,gnomAD
rs1346625398	p.Asp313Val	missense variant	-	NC_000014.9:g.31173374T>A	gnomAD
NCI-TCGA novel	p.Arg315Ser	missense variant	-	NC_000014.9:g.31173367T>G	NCI-TCGA
rs771590581	p.Val317Ala	missense variant	-	NC_000014.9:g.31173362A>G	ExAC,gnomAD
COSM697974	p.Val317Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31173363C>A	NCI-TCGA Cosmic
rs1167816610	p.Thr320Ile	missense variant	-	NC_000014.9:g.31173353G>A	gnomAD
NCI-TCGA novel	p.Thr320Ala	missense variant	-	NC_000014.9:g.31173354T>C	NCI-TCGA
rs1475810017	p.Met321Val	missense variant	-	NC_000014.9:g.31173351T>C	gnomAD
NCI-TCGA novel	p.Arg322Cys	missense variant	-	NC_000014.9:g.31173348G>A	NCI-TCGA
rs1261589657	p.Val324Phe	missense variant	-	NC_000014.9:g.31173342C>A	gnomAD
rs1185161806	p.Asp325Glu	missense variant	-	NC_000014.9:g.31173337G>T	gnomAD
rs1366306117	p.Leu326Pro	missense variant	-	NC_000014.9:g.31173335A>G	TOPMed
NCI-TCGA novel	p.Leu328PhePheSerTerUnkUnk	frameshift	-	NC_000014.9:g.31173328_31173329insAA	NCI-TCGA
rs1487019389	p.Leu330Val	missense variant	-	NC_000014.9:g.31173324G>C	gnomAD
rs1213292000	p.Leu331Ser	missense variant	-	NC_000014.9:g.31173320A>G	gnomAD
rs1467241672	p.Arg335Ter	stop gained	-	NC_000014.9:g.31173309G>A	gnomAD
rs1234667441	p.Ala337Thr	missense variant	-	NC_000014.9:g.31173303C>T	TOPMed
rs1325149532	p.Leu338Phe	missense variant	-	NC_000014.9:g.31173298C>G	TOPMed
rs771534036	p.Leu338Val	missense variant	-	NC_000014.9:g.31173300A>C	ExAC,TOPMed,gnomAD
rs749728442	p.Lys340Glu	missense variant	-	NC_000014.9:g.31173294T>C	ExAC,gnomAD
rs367628894	p.Ser342Asn	missense variant	-	NC_000014.9:g.31173287C>T	ESP,ExAC,TOPMed,gnomAD
rs201824279	p.Ser342Gly	missense variant	-	NC_000014.9:g.31173288T>C	gnomAD
NCI-TCGA novel	p.Ala343Ser	missense variant	-	NC_000014.9:g.31173285C>A	NCI-TCGA
rs1439693816	p.Ser345Cys	missense variant	-	NC_000014.9:g.31173278G>C	gnomAD
rs781518500	p.Gly347Ser	missense variant	-	NC_000014.9:g.31173273C>T	ExAC,gnomAD
rs374975608	p.Pro350Leu	missense variant	-	NC_000014.9:g.31173263G>A	ESP,ExAC,TOPMed,gnomAD
rs751721983	p.Leu352Phe	missense variant	-	NC_000014.9:g.31173258G>A	ExAC,gnomAD
rs201071378	p.Arg353Gln	missense variant	-	NC_000014.9:g.31173254C>T	1000Genomes,ExAC,gnomAD
rs757269778	p.Arg353Trp	missense variant	-	NC_000014.9:g.31173255G>A	ExAC,gnomAD
COSM3814675	p.Arg354Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31173251C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu355Ser	missense variant	-	NC_000014.9:g.31173248A>G	NCI-TCGA
rs370615404	p.Ser358Pro	missense variant	-	NC_000014.9:g.31173240A>G	ESP,ExAC,TOPMed,gnomAD
rs752409885	p.Glu360Lys	missense variant	-	NC_000014.9:g.31173234C>T	ExAC,gnomAD
rs759105343	p.Arg361Cys	missense variant	-	NC_000014.9:g.31173231G>A	ExAC
rs376624148	p.Arg361His	missense variant	-	NC_000014.9:g.31173230C>T	ESP,ExAC,TOPMed,gnomAD
rs376624148	p.Arg361Leu	missense variant	-	NC_000014.9:g.31173230C>A	ESP,ExAC,TOPMed,gnomAD
rs1194461631	p.Ser362Leu	missense variant	-	NC_000014.9:g.31173227G>A	gnomAD
rs914541012	p.His363Arg	missense variant	-	NC_000014.9:g.31173224T>C	TOPMed
rs914541012	p.His363Pro	missense variant	-	NC_000014.9:g.31173224T>G	TOPMed
rs770288826	p.Arg364Gln	missense variant	-	NC_000014.9:g.31173221C>T	ExAC,TOPMed,gnomAD
rs374758443	p.Arg364Trp	missense variant	-	NC_000014.9:g.31173222G>A	ESP,gnomAD
rs1296006668	p.Gln365His	missense variant	-	NC_000014.9:g.31173217C>G	gnomAD
rs763474721	p.Gln365Arg	missense variant	-	NC_000014.9:g.31173218T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile367Thr	missense variant	-	NC_000014.9:g.31173212A>G	NCI-TCGA
rs1233168645	p.Ile367Val	missense variant	-	NC_000014.9:g.31173213T>C	gnomAD
rs770257208	p.Arg371Ter	stop gained	-	NC_000014.9:g.31173201G>A	ExAC,gnomAD
COSM1209473	p.Arg371Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31173200C>T	NCI-TCGA Cosmic
rs1389700712	p.Asp374Asn	missense variant	-	NC_000014.9:g.31173192C>T	TOPMed
rs1395135102	p.Asp376Asn	missense variant	-	NC_000014.9:g.31173186C>T	gnomAD
rs780200526	p.Ile379Thr	missense variant	-	NC_000014.9:g.31173176A>G	ExAC,TOPMed,gnomAD
rs1452909095	p.Ala381Val	missense variant	-	NC_000014.9:g.31173170G>A	gnomAD
rs199790764	p.Ile382Leu	missense variant	-	NC_000014.9:g.31173168T>G	ESP,ExAC,TOPMed,gnomAD
rs199790764	p.Ile382Val	missense variant	-	NC_000014.9:g.31173168T>C	ESP,ExAC,TOPMed,gnomAD
rs201192424	p.Met392Thr	missense variant	-	NC_000014.9:g.31172104A>G	ExAC
rs1200713364	p.Asp394Asn	missense variant	-	NC_000014.9:g.31172099C>T	gnomAD
rs1349543289	p.Gly396Asp	missense variant	-	NC_000014.9:g.31172092C>T	gnomAD
COSM4846769	p.Gln397Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31172090G>C	NCI-TCGA Cosmic
rs1258531632	p.Thr398Ser	missense variant	-	NC_000014.9:g.31172086G>C	gnomAD
rs779071139	p.Leu399Val	missense variant	-	NC_000014.9:g.31172084G>C	ExAC,gnomAD
rs1455736393	p.Leu400Val	missense variant	-	NC_000014.9:g.31172081A>C	TOPMed,gnomAD
rs1413460199	p.Ala403Val	missense variant	-	NC_000014.9:g.31172071G>A	gnomAD
rs748157493	p.Glu417Gln	missense variant	-	NC_000014.9:g.31171944C>G	ExAC,TOPMed,gnomAD
rs1166083212	p.Gly419Ser	missense variant	-	NC_000014.9:g.31171938C>T	TOPMed
NCI-TCGA novel	p.Ala420Val	missense variant	-	NC_000014.9:g.31171934G>A	NCI-TCGA
rs1463033913	p.Ala420Thr	missense variant	-	NC_000014.9:g.31171935C>T	gnomAD
rs754895012	p.Asp421Gly	missense variant	-	NC_000014.9:g.31171931T>C	ExAC,TOPMed,gnomAD
rs754895012	p.Asp421Ala	missense variant	-	NC_000014.9:g.31171931T>G	ExAC,TOPMed,gnomAD
rs199633695	p.Val422Ile	missense variant	-	NC_000014.9:g.31171929C>T	1000Genomes,ExAC,gnomAD
rs1194945677	p.Arg424Lys	missense variant	-	NC_000014.9:g.31171922C>T	gnomAD
COSM281659	p.Arg424Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31171922C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg424Thr	missense variant	-	NC_000014.9:g.31171922C>G	NCI-TCGA
COSM4923780	p.Gln426Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.31171917G>A	NCI-TCGA Cosmic
rs1449669554	p.Arg427Met	missense variant	-	NC_000014.9:g.31171913C>A	gnomAD
rs758111235	p.Ser430Thr	missense variant	-	NC_000014.9:g.31171905A>T	ExAC,gnomAD
COSM3419767	p.Ser430Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31171905A>G	NCI-TCGA Cosmic
rs1297213314	p.Tyr433His	missense variant	-	NC_000014.9:g.31171896A>G	TOPMed
COSM955270	p.Arg439Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31171877C>A	NCI-TCGA Cosmic
rs1337909770	p.Pro440Leu	missense variant	-	NC_000014.9:g.31171874G>A	gnomAD
rs201335906	p.Gln441Arg	missense variant	-	NC_000014.9:g.31171871T>C	ESP,ExAC,TOPMed,gnomAD
rs753344101	p.Val442Ile	missense variant	-	NC_000014.9:g.31171869C>T	ExAC,gnomAD
rs756879472	p.Arg448Leu	missense variant	-	NC_000014.9:g.31169458C>A	ExAC,TOPMed,gnomAD
rs756879472	p.Arg448Gln	missense variant	-	NC_000014.9:g.31169458C>T	ExAC,TOPMed,gnomAD
rs777335128	p.Asn452Ile	missense variant	-	NC_000014.9:g.31169446T>A	ExAC,gnomAD
rs1259878811	p.Asp454Tyr	missense variant	-	NC_000014.9:g.31169441C>A	TOPMed
rs756639602	p.Thr462Ala	missense variant	-	NC_000014.9:g.31169417T>C	ExAC,gnomAD
rs367724968	p.Arg468Leu	missense variant	-	NC_000014.9:g.31169398C>A	ESP,TOPMed,gnomAD
rs367724968	p.Arg468Gln	missense variant	-	NC_000014.9:g.31169398C>T	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Glu469Ter	stop gained	-	NC_000014.9:g.31169396C>A	NCI-TCGA
NCI-TCGA novel	p.Arg470Lys	missense variant	-	NC_000014.9:g.31169392C>T	NCI-TCGA
rs1157504433	p.Gly471Asp	missense variant	-	NC_000014.9:g.31169389C>T	gnomAD
rs760010664	p.Val476Ile	missense variant	-	NC_000014.9:g.31169375C>T	ExAC
rs1468103997	p.Ile478Val	missense variant	-	NC_000014.9:g.31169369T>C	gnomAD
rs939134459	p.Ile478Ser	missense variant	-	NC_000014.9:g.31169368A>C	TOPMed
rs1191797871	p.Gln480His	missense variant	-	NC_000014.9:g.31169361C>A	TOPMed
COSM3495679	p.Pro482Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31169357G>A	NCI-TCGA Cosmic
rs745938416	p.Gly483Asp	missense variant	-	NC_000014.9:g.31168472C>T	TOPMed
NCI-TCGA novel	p.Asp484Val	missense variant	-	NC_000014.9:g.31168469T>A	NCI-TCGA
rs755655947	p.Trp485Ter	stop gained	-	NC_000014.9:g.31168465C>T	ExAC,gnomAD
NCI-TCGA novel	p.Trp485Cys	missense variant	-	NC_000014.9:g.31168465C>G	NCI-TCGA
rs1232705847	p.Met486Val	missense variant	-	NC_000014.9:g.31168464T>C	gnomAD
rs1334110168	p.Cys487Ter	stop gained	-	NC_000014.9:g.31168459A>T	gnomAD
rs149998757	p.Pro488Ser	missense variant	-	NC_000014.9:g.31168458G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs149998757	p.Pro488Ala	missense variant	-	NC_000014.9:g.31168458G>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro488Leu	missense variant	-	NC_000014.9:g.31168457G>A	NCI-TCGA
rs781770147	p.Val489Leu	missense variant	-	NC_000014.9:g.31168455C>G	ExAC,gnomAD
rs1379608741	p.Gly492Arg	missense variant	-	NC_000014.9:g.31168446C>G	gnomAD
NCI-TCGA novel	p.Asp493Tyr	missense variant	-	NC_000014.9:g.31168443C>A	NCI-TCGA
rs1269299720	p.Asp494Gly	missense variant	-	NC_000014.9:g.31168439T>C	gnomAD
rs755484347	p.Lys495Arg	missense variant	-	NC_000014.9:g.31168436T>C	ExAC,gnomAD
rs1320666930	p.Lys496Glu	missense variant	-	NC_000014.9:g.31168434T>C	gnomAD
COSM6075596	p.Lys497Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31168430T>C	NCI-TCGA Cosmic
rs566713177	p.Lys498Glu	missense variant	-	NC_000014.9:g.31168428T>C	1000Genomes
COSM4050481	p.Asp499Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31168425C>T	NCI-TCGA Cosmic
rs779189886	p.Asp499Glu	missense variant	-	NC_000014.9:g.31168423A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Asp499Tyr	missense variant	-	NC_000014.9:g.31168425C>A	NCI-TCGA
rs1392922597	p.Thr500Ala	missense variant	-	NC_000014.9:g.31168422T>C	gnomAD
rs551396462	p.Asp503Gly	missense variant	-	NC_000014.9:g.31168412T>C	1000Genomes
NCI-TCGA novel	p.Glu504Lys	missense variant	-	NC_000014.9:g.31168410C>T	NCI-TCGA
rs1419218532	p.Glu505Lys	missense variant	-	NC_000014.9:g.31168407C>T	gnomAD
rs200417980	p.Glu509Asp	missense variant	-	NC_000014.9:g.31168393C>A	ExAC,TOPMed,gnomAD
COSM6075597	p.Lys511Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31168389T>C	NCI-TCGA Cosmic
rs750633915	p.Lys511Arg	missense variant	-	NC_000014.9:g.31168388T>C	ExAC,gnomAD
rs761908738	p.Asp513Asn	missense variant	-	NC_000014.9:g.31168383C>T	ExAC,gnomAD
rs761908738	p.Asp513His	missense variant	-	NC_000014.9:g.31168383C>G	ExAC,gnomAD
rs767451398	p.Pro514Thr	missense variant	-	NC_000014.9:g.31168380G>T	ExAC,TOPMed,gnomAD
rs759468065	p.Pro514Leu	missense variant	-	NC_000014.9:g.31168379G>A	ExAC,gnomAD
rs759468065	p.Pro514Gln	missense variant	-	NC_000014.9:g.31168379G>T	ExAC,gnomAD
rs770738758	p.Met516Val	missense variant	-	NC_000014.9:g.31168374T>C	ExAC,gnomAD
rs748933537	p.Pro518Leu	missense variant	-	NC_000014.9:g.31168367G>A	ExAC,gnomAD
rs1366953174	p.Pro518Ser	missense variant	-	NC_000014.9:g.31168368G>A	gnomAD
rs917026647	p.Ile519Met	missense variant	-	NC_000014.9:g.31168363T>C	TOPMed,gnomAD
rs772948905	p.Ile519Val	missense variant	-	NC_000014.9:g.31168365T>C	ExAC,TOPMed,gnomAD
rs769522373	p.Ile519Thr	missense variant	-	NC_000014.9:g.31168364A>G	ExAC,gnomAD
rs1458850118	p.Tyr520Ter	stop gained	-	NC_000014.9:g.31168360G>C	gnomAD
COSM416717	p.Arg523Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31168352C>A	NCI-TCGA Cosmic
rs1431944957	p.Leu525Ser	missense variant	-	NC_000014.9:g.31168346A>G	gnomAD
COSM3495678	p.Gln533Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.31168323G>A	NCI-TCGA Cosmic
rs35311292	p.Gln534Glu	missense variant	-	NC_000014.9:g.31168320G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs35311292	p.Gln534Ter	stop gained	-	NC_000014.9:g.31168320G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs925612082	p.Met536Leu	missense variant	-	NC_000014.9:g.31168314T>G	TOPMed,gnomAD
rs925612082	p.Met536Val	missense variant	-	NC_000014.9:g.31168314T>C	TOPMed,gnomAD
rs1277790722	p.Met536Thr	missense variant	-	NC_000014.9:g.31168313A>G	gnomAD
rs925612082	p.Met536Leu	missense variant	-	NC_000014.9:g.31168314T>A	TOPMed,gnomAD
rs1452731854	p.Pro538Ser	missense variant	-	NC_000014.9:g.31168308G>A	gnomAD
COSM955269	p.Ile540Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31168300T>C	NCI-TCGA Cosmic
rs376339897	p.Ile540Val	missense variant	-	NC_000014.9:g.31168302T>C	ESP,ExAC,TOPMed,gnomAD
rs1249746894	p.Ala543Thr	missense variant	-	NC_000014.9:g.31157299C>T	gnomAD
rs1179904472	p.Leu545Val	missense variant	-	NC_000014.9:g.31157293G>C	gnomAD
COSM3419766	p.Leu545Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31157293G>T	NCI-TCGA Cosmic
rs769574276	p.Leu547Val	missense variant	-	NC_000014.9:g.31157287G>C	ExAC,TOPMed,gnomAD
COSM3495677	p.Arg549Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.31157281G>A	NCI-TCGA Cosmic
rs776338089	p.Met551Val	missense variant	-	NC_000014.9:g.31157275T>C	ExAC,gnomAD
rs949217788	p.Ile552Val	missense variant	-	NC_000014.9:g.31157272T>C	gnomAD
rs1257329103	p.His553Asn	missense variant	-	NC_000014.9:g.31157269G>T	gnomAD
rs747508509	p.Ser556Pro	missense variant	-	NC_000014.9:g.31157260A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala558Gly	missense variant	-	NC_000014.9:g.31157253G>C	NCI-TCGA
rs1287079962	p.Ala558Thr	missense variant	-	NC_000014.9:g.31157254C>T	gnomAD
rs1481852841	p.Leu559Pro	missense variant	-	NC_000014.9:g.31157250A>G	TOPMed
NCI-TCGA novel	p.Glu562Ter	stop gained	-	NC_000014.9:g.31157242C>A	NCI-TCGA
rs1199216782	p.Val563Phe	missense variant	-	NC_000014.9:g.31157239C>A	TOPMed
rs780637888	p.Cys564Tyr	missense variant	-	NC_000014.9:g.31157235C>T	ExAC,gnomAD
COSM1300563	p.Asp565Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31157233C>T	NCI-TCGA Cosmic
rs1312677878	p.Ser566Cys	missense variant	-	NC_000014.9:g.31157229G>C	gnomAD
rs1413279475	p.Asp567Val	missense variant	-	NC_000014.9:g.31157226T>A	gnomAD
rs932341095	p.Val568Ala	missense variant	-	NC_000014.9:g.31157223A>G	TOPMed
rs758778839	p.Val568Ile	missense variant	-	NC_000014.9:g.31157224C>T	ExAC,gnomAD
rs779249784	p.Asn571Ser	missense variant	-	NC_000014.9:g.31157214T>C	ExAC,TOPMed,gnomAD
rs757535234	p.Pro573Leu	missense variant	-	NC_000014.9:g.31157208G>A	ExAC,gnomAD
rs754038853	p.Thr574Ala	missense variant	-	NC_000014.9:g.31157206T>C	ExAC,gnomAD
rs756249045	p.Glu578Ala	missense variant	-	NC_000014.9:g.31157193T>G	ExAC,TOPMed,gnomAD
rs756249045	p.Glu578Val	missense variant	-	NC_000014.9:g.31157193T>A	ExAC,TOPMed,gnomAD
rs752671358	p.Ile579Thr	missense variant	-	NC_000014.9:g.31157190A>G	ExAC,TOPMed,gnomAD
rs1169363628	p.Thr580Pro	missense variant	-	NC_000014.9:g.31157188T>G	TOPMed
rs766352815	p.Thr580Ile	missense variant	-	NC_000014.9:g.31157187G>A	ExAC,gnomAD
rs1373396144	p.Thr582Asn	missense variant	-	NC_000014.9:g.31157181G>T	TOPMed
rs1485282818	p.Val583Leu	missense variant	-	NC_000014.9:g.31157179C>G	gnomAD
NCI-TCGA novel	p.Leu584Pro	missense variant	-	NC_000014.9:g.31157175A>G	NCI-TCGA
rs1463292873	p.Asp585Glu	missense variant	-	NC_000014.9:g.31157171A>T	TOPMed
rs777993834	p.Asp589Gly	missense variant	-	NC_000014.9:g.31157006T>C	ExAC,TOPMed,gnomAD
rs926606289	p.Asp589Glu	missense variant	-	NC_000014.9:g.31157005A>T	TOPMed,gnomAD
rs1289548302	p.Asp590Glu	missense variant	-	NC_000014.9:g.31157002A>T	TOPMed
rs756233177	p.Asp591His	missense variant	-	NC_000014.9:g.31157001C>G	ExAC,gnomAD
rs752825325	p.Leu595Val	missense variant	-	NC_000014.9:g.31156989G>C	ExAC
rs372796767	p.Ile600Met	missense variant	-	NC_000014.9:g.31156972T>C	ESP,ExAC,TOPMed,gnomAD
rs1317627264	p.Ile600Val	missense variant	-	NC_000014.9:g.31156974T>C	TOPMed,gnomAD
rs1322859701	p.Arg601Thr	missense variant	-	NC_000014.9:g.31156970C>G	gnomAD
rs1392732875	p.Asp602Val	missense variant	-	NC_000014.9:g.31156967T>A	gnomAD
NCI-TCGA novel	p.Asp602His	missense variant	-	NC_000014.9:g.31156968C>G	NCI-TCGA
rs765161560	p.Asp605His	missense variant	-	NC_000014.9:g.31156959C>G	ExAC,gnomAD
rs1235606749	p.Gly608Asp	missense variant	-	NC_000014.9:g.31156949C>T	gnomAD
rs772294541	p.Ile610Thr	missense variant	-	NC_000014.9:g.31156943A>G	TOPMed,gnomAD
rs1316863554	p.Phe611Leu	missense variant	-	NC_000014.9:g.31156939A>C	TOPMed
rs753634884	p.Gln614His	missense variant	-	NC_000014.9:g.31156930C>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg617Lys	missense variant	-	NC_000014.9:g.31156922C>T	NCI-TCGA
NCI-TCGA novel	p.Ile621Met	missense variant	-	NC_000014.9:g.31156909A>C	NCI-TCGA
rs1449614390	p.Ser622Asn	missense variant	-	NC_000014.9:g.31156907C>T	gnomAD
COSM6075598	p.Lys623Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31156905T>C	NCI-TCGA Cosmic
rs1251797151	p.Lys623Thr	missense variant	-	NC_000014.9:g.31156904T>G	gnomAD
rs200112692	p.Ser625Pro	missense variant	-	NC_000014.9:g.31156899A>G	ExAC,TOPMed,gnomAD
rs1340466931	p.Thr626Met	missense variant	-	NC_000014.9:g.31156895G>A	gnomAD
rs571232531	p.Thr626Ala	missense variant	-	NC_000014.9:g.31156896T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1277124747	p.Ala628Ser	missense variant	-	NC_000014.9:g.31156890C>A	gnomAD
COSM3495676	p.Pro630Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31156884G>A	NCI-TCGA Cosmic
rs1201359129	p.Asp634Asn	missense variant	-	NC_000014.9:g.31156872C>T	TOPMed
rs1229374794	p.Asp634Gly	missense variant	-	NC_000014.9:g.31156871T>C	gnomAD
rs1347310850	p.Glu635Val	missense variant	-	NC_000014.9:g.31156868T>A	gnomAD
NCI-TCGA novel	p.Glu635Lys	missense variant	-	NC_000014.9:g.31156869C>T	NCI-TCGA
rs1405642026	p.Asn636Ser	missense variant	-	NC_000014.9:g.31156865T>C	TOPMed
NCI-TCGA novel	p.Asn636Thr	missense variant	-	NC_000014.9:g.31156865T>G	NCI-TCGA
rs1400056791	p.Glu637Gly	missense variant	-	NC_000014.9:g.31156862T>C	TOPMed
rs760132871	p.Glu637Asp	missense variant	-	NC_000014.9:g.31156861T>G	ExAC,gnomAD
rs1332763775	p.Glu638Lys	missense variant	-	NC_000014.9:g.31156860C>T	gnomAD
rs1368464808	p.Ser640Ter	stop gained	-	NC_000014.9:g.31156853G>T	gnomAD
rs1409045430	p.Ser640Thr	missense variant	-	NC_000014.9:g.31156854A>T	gnomAD
rs771379436	p.Pro642Arg	missense variant	-	NC_000014.9:g.31156847G>C	ExAC,TOPMed,gnomAD
rs771379436	p.Pro642Leu	missense variant	-	NC_000014.9:g.31156847G>A	ExAC,TOPMed,gnomAD
rs771379436	p.Pro642Gln	missense variant	-	NC_000014.9:g.31156847G>T	ExAC,TOPMed,gnomAD
rs1429970630	p.Pro642Thr	missense variant	-	NC_000014.9:g.31156848G>T	gnomAD
rs1170327697	p.Glu643Gln	missense variant	-	NC_000014.9:g.31156845C>G	TOPMed,gnomAD
rs1170327697	p.Glu643Lys	missense variant	-	NC_000014.9:g.31156845C>T	TOPMed,gnomAD
rs1228843607	p.Glu645Lys	missense variant	-	NC_000014.9:g.31150221C>T	gnomAD
rs747094522	p.Asp646Gly	missense variant	-	NC_000014.9:g.31150217T>C	ExAC,TOPMed,gnomAD
COSM955268	p.Glu647Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31150214T>C	NCI-TCGA Cosmic
rs757326361	p.Pro648Ser	missense variant	-	NC_000014.9:g.31150212G>A	ExAC,gnomAD
rs777667212	p.Glu650Gln	missense variant	-	NC_000014.9:g.31150206C>G	ExAC
NCI-TCGA novel	p.Asp651Asn	missense variant	-	NC_000014.9:g.31150203C>T	NCI-TCGA
NCI-TCGA novel	p.Glu654Ter	stop gained	-	NC_000014.9:g.31150194C>A	NCI-TCGA
rs11620816	p.Gln656His	missense variant	-	NC_000014.9:g.31150186T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs11620816	p.Gln656His	missense variant	-	NC_000014.9:g.31150186T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1160534274	p.Pro660Thr	missense variant	-	NC_000014.9:g.31150176G>T	gnomAD
rs1160534274	p.Pro660Ser	missense variant	-	NC_000014.9:g.31150176G>A	gnomAD
rs1412033172	p.Tyr661Cys	missense variant	-	NC_000014.9:g.31150172T>C	gnomAD
rs751136215	p.His662Arg	missense variant	-	NC_000014.9:g.31150169T>C	ExAC,gnomAD
COSM4050480	p.Trp663Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31150167A>G	NCI-TCGA Cosmic
rs765861228	p.Ile668Val	missense variant	-	NC_000014.9:g.31150152T>C	ExAC,TOPMed,gnomAD
rs1318773514	p.Arg670Gly	missense variant	-	NC_000014.9:g.31150146T>C	gnomAD
rs1247595276	p.Arg670Ser	missense variant	-	NC_000014.9:g.31150144C>G	gnomAD
COSM1369533	p.Arg672LysPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.31150141_31150142insC	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg672Ser	missense variant	-	NC_000014.9:g.31150138C>A	NCI-TCGA
NCI-TCGA novel	p.Asp680Asn	missense variant	-	NC_000014.9:g.31150116C>T	NCI-TCGA
rs763497573	p.Ala682Thr	missense variant	-	NC_000014.9:g.31150110C>T	ExAC,TOPMed,gnomAD
rs538441061	p.Ala683Val	missense variant	-	NC_000014.9:g.31150106G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gly692Val	missense variant	-	NC_000014.9:g.31150079C>A	NCI-TCGA
rs1229778758	p.Phe694Val	missense variant	-	NC_000014.9:g.31150074A>C	gnomAD
rs769001457	p.Ile697Met	missense variant	-	NC_000014.9:g.31150063G>C	ExAC,TOPMed,gnomAD
rs1432331716	p.Gly700Arg	missense variant	-	NC_000014.9:g.31150056C>T	TOPMed,gnomAD
rs1321853384	p.Ala703Gly	missense variant	-	NC_000014.9:g.31150046G>C	gnomAD
rs1366733559	p.Ala703Thr	missense variant	-	NC_000014.9:g.31150047C>T	gnomAD
NCI-TCGA novel	p.Tyr706His	missense variant	-	NC_000014.9:g.31150038A>G	NCI-TCGA
rs745905937	p.Ser708Gly	missense variant	-	NC_000014.9:g.31150032T>C	ExAC,gnomAD
NCI-TCGA novel	p.Pro711Leu	missense variant	-	NC_000014.9:g.31150022G>A	NCI-TCGA
NCI-TCGA novel	p.Glu712Ter	stop gained	-	NC_000014.9:g.31150020C>A	NCI-TCGA
rs1385630659	p.Gly713Val	missense variant	-	NC_000014.9:g.31150016C>A	TOPMed
rs1250771400	p.Ser720Arg	missense variant	-	NC_000014.9:g.31149156G>T	gnomAD
COSM955267	p.Arg721Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31149154C>T	NCI-TCGA Cosmic
rs1202699233	p.Glu723Lys	missense variant	-	NC_000014.9:g.31149149C>T	gnomAD
COSM4535290	p.Glu726Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31149140C>T	NCI-TCGA Cosmic
rs201555948	p.Glu726Gly	missense variant	-	NC_000014.9:g.31149139T>C	1000Genomes
NCI-TCGA novel	p.Arg730Lys	missense variant	-	NC_000014.9:g.31149127C>T	NCI-TCGA
COSM955266	p.Arg732Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.31149122G>A	NCI-TCGA Cosmic
rs1251457276	p.Arg732Gln	missense variant	-	NC_000014.9:g.31149121C>T	gnomAD
rs147151322	p.Gln734Pro	missense variant	-	NC_000014.9:g.31149115T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1309918112	p.Val735Ile	missense variant	-	NC_000014.9:g.31149113C>T	gnomAD
NCI-TCGA novel	p.Val735Ala	missense variant	-	NC_000014.9:g.31149112A>G	NCI-TCGA
rs1220297212	p.Lys736Glu	missense variant	-	NC_000014.9:g.31149110T>C	gnomAD
rs1404343352	p.Pro737Ala	missense variant	-	NC_000014.9:g.31149107G>C	TOPMed
rs1000920278	p.Pro737Leu	missense variant	-	NC_000014.9:g.31149106G>A	TOPMed,gnomAD
rs1297585787	p.Ser738Phe	missense variant	-	NC_000014.9:g.31149103G>A	TOPMed
rs1411992832	p.Thr739Pro	missense variant	-	NC_000014.9:g.31149101T>G	gnomAD
rs768408652	p.Ser740Pro	missense variant	-	NC_000014.9:g.31149098A>G	ExAC,TOPMed,gnomAD
rs993844986	p.Gln742Pro	missense variant	-	NC_000014.9:g.31149091T>G	TOPMed
NCI-TCGA novel	p.Pro743Arg	missense variant	-	NC_000014.9:g.31149088G>C	NCI-TCGA
rs1056840096	p.Ile744Val	missense variant	-	NC_000014.9:g.31149086T>C	TOPMed
NCI-TCGA novel	p.Gly749Ter	stop gained	-	NC_000014.9:g.31149071C>A	NCI-TCGA
rs1254091642	p.Thr754Asn	missense variant	-	NC_000014.9:g.31149055G>T	gnomAD
rs757756827	p.Thr761Lys	missense variant	-	NC_000014.9:g.31149034G>T	ExAC,gnomAD
rs757756827	p.Thr761Ile	missense variant	-	NC_000014.9:g.31149034G>A	ExAC,gnomAD
rs764660870	p.Cys762Tyr	missense variant	-	NC_000014.9:g.31149031C>T	ExAC,TOPMed,gnomAD
COSM955265	p.Glu767Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.31149017C>A	NCI-TCGA Cosmic
COSM955264	p.Ala769Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31149010G>A	NCI-TCGA Cosmic
rs753054988	p.Ile770Val	missense variant	-	NC_000014.9:g.31149008T>C	ExAC,TOPMed,gnomAD
rs753054988	p.Ile770Leu	missense variant	-	NC_000014.9:g.31149008T>G	ExAC,TOPMed,gnomAD
rs1329081844	p.His771Arg	missense variant	-	NC_000014.9:g.31149004T>C	gnomAD
rs1379160674	p.Gln777Ter	stop gained	-	NC_000014.9:g.31148987G>A	TOPMed
rs774353216	p.Lys782Asn	missense variant	-	NC_000014.9:g.31148970T>G	ExAC,gnomAD
rs747375907	p.Glu783Asp	missense variant	-	NC_000014.9:g.31148967T>A	ExAC,TOPMed,gnomAD
rs1206173384	p.Asp784Gly	missense variant	-	NC_000014.9:g.31148965T>C	gnomAD
rs1381552035	p.Leu785Ile	missense variant	-	NC_000014.9:g.31148963A>T	gnomAD
rs1303528861	p.Pro786Ser	missense variant	-	NC_000014.9:g.31148960G>A	TOPMed,gnomAD
rs776581105	p.Val789Leu	missense variant	-	NC_000014.9:g.31148951C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val789Ala	missense variant	-	NC_000014.9:g.31148950A>G	NCI-TCGA
NCI-TCGA novel	p.Arg794Gly	missense variant	-	NC_000014.9:g.31148936T>C	NCI-TCGA
rs1156837741	p.Thr796Ser	missense variant	-	NC_000014.9:g.31148929G>C	gnomAD
rs143404862	p.Ser799Leu	missense variant	-	NC_000014.9:g.31148920G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1257758388	p.Ala802Val	missense variant	-	NC_000014.9:g.31148911G>A	gnomAD
rs57637783	p.Thr804Pro	missense variant	-	NC_000014.9:g.31148906T>G	TOPMed
rs57637783	p.Thr804Ala	missense variant	-	NC_000014.9:g.31148906T>C	TOPMed
rs745517108	p.Leu806Arg	missense variant	-	NC_000014.9:g.31148899A>C	ExAC,TOPMed,gnomAD
COSM258786	p.Glu809Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31148791T>A	NCI-TCGA Cosmic
rs1384931822	p.Glu809Asp	missense variant	-	NC_000014.9:g.31148790T>G	gnomAD
rs1282774343	p.Val811Met	missense variant	-	NC_000014.9:g.31148786C>T	gnomAD
rs758479061	p.Thr812Ala	missense variant	-	NC_000014.9:g.31148783T>C	ExAC,gnomAD
NCI-TCGA novel	p.Trp814Cys	missense variant	-	NC_000014.9:g.31148775C>A	NCI-TCGA
rs1479532818	p.Thr815Ser	missense variant	-	NC_000014.9:g.31148773G>C	TOPMed
rs750564113	p.Thr815Ala	missense variant	-	NC_000014.9:g.31148774T>C	ExAC,gnomAD
rs76272797	p.Gly819Cys	missense variant	-	NC_000014.9:g.31148762C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1458984308	p.Lys823Ile	missense variant	-	NC_000014.9:g.31148749T>A	TOPMed
rs760651756	p.Glu827Gly	missense variant	-	NC_000014.9:g.31148737T>C	ExAC,TOPMed,gnomAD
rs868194793	p.Thr829Pro	missense variant	-	NC_000014.9:g.31148732T>G	TOPMed
rs868194793	p.Thr829Ala	missense variant	-	NC_000014.9:g.31148732T>C	TOPMed
rs896657423	p.Gln831Arg	missense variant	-	NC_000014.9:g.31148725T>C	gnomAD
rs896657423	p.Gln831Leu	missense variant	-	NC_000014.9:g.31148725T>A	gnomAD
rs762737350	p.Arg834Gln	missense variant	-	NC_000014.9:g.31144937C>T	ExAC,TOPMed,gnomAD
rs773027749	p.Arg838Ter	stop gained	-	NC_000014.9:g.31144926G>A	ExAC,gnomAD
rs201294046	p.Arg838Pro	missense variant	-	NC_000014.9:g.31144925C>G	ExAC,TOPMed,gnomAD
rs201294046	p.Arg838Gln	missense variant	-	NC_000014.9:g.31144925C>T	ExAC,TOPMed,gnomAD
rs775936710	p.Asp839Glu	missense variant	-	NC_000014.9:g.31144921A>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp839Tyr	missense variant	-	NC_000014.9:g.31144923C>A	NCI-TCGA
rs373355662	p.Leu840Ile	missense variant	-	NC_000014.9:g.31144920A>T	ESP,ExAC,TOPMed,gnomAD
rs772392792	p.Asp842Asn	missense variant	-	NC_000014.9:g.31144914C>T	ExAC,TOPMed,gnomAD
rs772392792	p.Asp842Tyr	missense variant	-	NC_000014.9:g.31144914C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp843His	missense variant	-	NC_000014.9:g.31144911C>G	NCI-TCGA
NCI-TCGA novel	p.His844Gln	missense variant	-	NC_000014.9:g.31144906A>C	NCI-TCGA
rs779124645	p.Ala847Val	missense variant	-	NC_000014.9:g.31144898G>A	ExAC,gnomAD
rs1476703494	p.Ser850Arg	missense variant	-	NC_000014.9:g.31144888G>T	gnomAD
rs754020833	p.Ser850Asn	missense variant	-	NC_000014.9:g.31144889C>T	ExAC,gnomAD
rs777701778	p.Met851Arg	missense variant	-	NC_000014.9:g.31144886A>C	ExAC,gnomAD
rs777701778	p.Met851Thr	missense variant	-	NC_000014.9:g.31144886A>G	ExAC,gnomAD
rs1436320168	p.Pro852Leu	missense variant	-	NC_000014.9:g.31144883G>A	TOPMed
rs1326871119	p.Arg853Cys	missense variant	-	NC_000014.9:g.31144881G>A	gnomAD
NCI-TCGA novel	p.Arg853His	missense variant	-	NC_000014.9:g.31144880C>T	NCI-TCGA
rs754992476	p.Val856Ala	missense variant	-	NC_000014.9:g.31144871A>G	ExAC,gnomAD
rs1193523294	p.Val857Leu	missense variant	-	NC_000014.9:g.31144869C>A	gnomAD
rs751423256	p.Val857Ala	missense variant	-	NC_000014.9:g.31144868A>G	ExAC,gnomAD
rs1454183723	p.Ile862Val	missense variant	-	NC_000014.9:g.31144854T>C	gnomAD
rs762860849	p.Ile862Met	missense variant	-	NC_000014.9:g.31144852T>C	ExAC,gnomAD
rs1320532384	p.Ala863Pro	missense variant	-	NC_000014.9:g.31144851C>G	gnomAD
NCI-TCGA novel	p.Gln865Glu	missense variant	-	NC_000014.9:g.31144845G>C	NCI-TCGA
COSM3738256	p.Ser868Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.31144835G>T	NCI-TCGA Cosmic
rs1411968245	p.Glu871Lys	missense variant	-	NC_000014.9:g.31144827C>T	gnomAD
rs1253045772	p.His873Arg	missense variant	-	NC_000014.9:g.31144820T>C	TOPMed
rs761548619	p.Thr874Lys	missense variant	-	NC_000014.9:g.31144817G>T	ExAC,gnomAD
rs1185760101	p.Thr874Ala	missense variant	-	NC_000014.9:g.31144818T>C	gnomAD
rs370184184	p.Asn875Lys	missense variant	-	NC_000014.9:g.31144813A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1389606671	p.Gln877Arg	missense variant	-	NC_000014.9:g.31144808T>C	gnomAD
rs1228804712	p.Cys878Arg	missense variant	-	NC_000014.9:g.31144257A>G	TOPMed
rs1274915096	p.Glu880Gln	missense variant	-	NC_000014.9:g.31144251C>G	TOPMed
rs765106677	p.Glu882Lys	missense variant	-	NC_000014.9:g.31144245C>T	ExAC,gnomAD
rs756979673	p.Glu882Asp	missense variant	-	NC_000014.9:g.31144243C>G	ExAC,gnomAD
rs1224392849	p.Lys890Gln	missense variant	-	NC_000014.9:g.31144221T>G	gnomAD
rs753398902	p.Thr891Ser	missense variant	-	NC_000014.9:g.31144218T>A	ExAC,gnomAD
rs1273388997	p.Leu893Ser	missense variant	-	NC_000014.9:g.31144211A>G	gnomAD
rs763760019	p.Asn895Ser	missense variant	-	NC_000014.9:g.31144205T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asn895Tyr	missense variant	-	NC_000014.9:g.31144206T>A	NCI-TCGA
rs1308740918	p.Val898Ile	missense variant	-	NC_000014.9:g.31144197C>T	gnomAD
rs760119619	p.Val898Ala	missense variant	-	NC_000014.9:g.31144196A>G	ExAC,TOPMed,gnomAD
rs775001546	p.Leu899Phe	missense variant	-	NC_000014.9:g.31144194G>A	ExAC,TOPMed,gnomAD
rs1285616276	p.Leu900Ser	missense variant	-	NC_000014.9:g.31144190A>G	TOPMed,gnomAD
COSM4050478	p.Lys901Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31144186C>A	NCI-TCGA Cosmic
rs1405874739	p.Asp902Glu	missense variant	-	NC_000014.9:g.31144183A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Glu903Gln	missense variant	-	NC_000014.9:g.31144182C>G	NCI-TCGA
rs760028063	p.Ile906Thr	missense variant	-	NC_000014.9:g.31144172A>G	ExAC,gnomAD
rs757106907	p.Ile906Val	missense variant	-	NC_000014.9:g.31144173T>C	ExAC,TOPMed,gnomAD
rs1029520275	p.Pro908Ser	missense variant	-	NC_000014.9:g.31144167G>A	TOPMed
NCI-TCGA novel	p.Tyr909Phe	missense variant	-	NC_000014.9:g.31144163T>A	NCI-TCGA
COSM3793656	p.Glu910Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31144161C>G	NCI-TCGA Cosmic
rs1463628083	p.Glu910Gly	missense variant	-	NC_000014.9:g.31144160T>C	gnomAD
rs930145918	p.Gly915Ser	missense variant	-	NC_000014.9:g.31144146C>T	TOPMed
rs1427037940	p.Val923Met	missense variant	-	NC_000014.9:g.31144122C>T	gnomAD
rs367754588	p.Val923Ala	missense variant	-	NC_000014.9:g.31144121A>G	ESP,ExAC,TOPMed,gnomAD
rs1175081380	p.Asn926Tyr	missense variant	-	NC_000014.9:g.31144113T>A	gnomAD
rs773331072	p.Asn926Ser	missense variant	-	NC_000014.9:g.31144112T>C	ExAC
rs200350849	p.Met928Val	missense variant	-	NC_000014.9:g.31141949T>C	ESP,ExAC,TOPMed,gnomAD
rs752038815	p.Met932Val	missense variant	-	NC_000014.9:g.31141937T>C	ExAC,TOPMed,gnomAD
rs749107980	p.Lys933Gln	missense variant	-	NC_000014.9:g.31141934T>G	ExAC,gnomAD
rs371069986	p.Asp935Tyr	missense variant	-	NC_000014.9:g.31141928C>A	ESP,ExAC,TOPMed,gnomAD
rs755776072	p.Cys936Gly	missense variant	-	NC_000014.9:g.31141925A>C	ExAC,gnomAD
rs752316549	p.Ser937Gly	missense variant	-	NC_000014.9:g.31141922T>C	ExAC,TOPMed,gnomAD
rs752316549	p.Ser937Arg	missense variant	-	NC_000014.9:g.31141922T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu941Gln	missense variant	-	NC_000014.9:g.31141910C>G	NCI-TCGA
rs780783696	p.Ile943Met	missense variant	-	NC_000014.9:g.31141902T>C	ExAC,gnomAD
rs1244021369	p.Ile943Val	missense variant	-	NC_000014.9:g.31141904T>C	gnomAD
rs368964893	p.Val945Ile	missense variant	-	NC_000014.9:g.31141898C>T	ESP,TOPMed,gnomAD
rs754508677	p.Phe946Leu	missense variant	-	NC_000014.9:g.31141893A>T	ExAC,gnomAD
rs766797998	p.Lys947Thr	missense variant	-	NC_000014.9:g.31141891T>G	ExAC,gnomAD
rs751014789	p.Lys947Glu	missense variant	-	NC_000014.9:g.31141892T>C	ExAC,gnomAD
rs763508731	p.Thr948Ala	missense variant	-	NC_000014.9:g.31141889T>C	ExAC,gnomAD
rs1478729942	p.Ala949Val	missense variant	-	NC_000014.9:g.31141885G>A	TOPMed
rs1292683180	p.Ser951Thr	missense variant	-	NC_000014.9:g.31141879C>G	gnomAD
COSM4846768	p.Glu952Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31141877C>T	NCI-TCGA Cosmic
rs1163684356	p.Asp956Glu	missense variant	-	NC_000014.9:g.31141863A>C	gnomAD
COSM1300562	p.Glu957Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31141862C>T	NCI-TCGA Cosmic
rs1448456812	p.Glu957Asp	missense variant	-	NC_000014.9:g.31141860T>A	gnomAD
rs1448337628	p.Ser958Cys	missense variant	-	NC_000014.9:g.31141859T>A	gnomAD
rs373736992	p.Arg959Gln	missense variant	-	NC_000014.9:g.31139995C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg959Ter	stop gained	-	NC_000014.9:g.31139996G>A	NCI-TCGA
rs754195624	p.Ala963Gly	missense variant	-	NC_000014.9:g.31139983G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala963Val	missense variant	-	NC_000014.9:g.31139983G>A	NCI-TCGA
rs376639276	p.Arg966Gln	missense variant	-	NC_000014.9:g.31139974C>T	ESP,TOPMed,gnomAD
rs376639276	p.Arg966Pro	missense variant	-	NC_000014.9:g.31139974C>G	ESP,TOPMed,gnomAD
rs982836656	p.Leu968Ser	missense variant	-	NC_000014.9:g.31139968A>G	TOPMed,gnomAD
rs373472247	p.Ala970Val	missense variant	-	NC_000014.9:g.31139962G>A	ESP,ExAC,TOPMed,gnomAD
rs767603672	p.Leu972Val	missense variant	-	NC_000014.9:g.31139957G>C	ExAC,gnomAD
rs1430458132	p.Ile975Val	missense variant	-	NC_000014.9:g.31139948T>C	gnomAD
NCI-TCGA novel	p.Ile975Phe	missense variant	-	NC_000014.9:g.31139948T>A	NCI-TCGA
rs1470510768	p.Arg977His	missense variant	-	NC_000014.9:g.31139941C>T	TOPMed
rs759498422	p.Arg977Cys	missense variant	-	NC_000014.9:g.31139942G>A	ExAC,TOPMed,gnomAD
rs1468803199	p.Pro979Thr	missense variant	-	NC_000014.9:g.31139936G>T	gnomAD
rs773226972	p.Pro979Leu	missense variant	-	NC_000014.9:g.31139935G>A	ExAC,gnomAD
rs1182700067	p.Leu980Phe	missense variant	-	NC_000014.9:g.31139933G>A	gnomAD
rs906954730	p.His981Arg	missense variant	-	NC_000014.9:g.31139929T>C	TOPMed,gnomAD
rs368864658	p.Tyr983Cys	missense variant	-	NC_000014.9:g.31139923T>C	ESP,ExAC,TOPMed,gnomAD
rs1326779493	p.Asp984Val	missense variant	-	NC_000014.9:g.31139920T>A	TOPMed
rs747943699	p.Thr985Ile	missense variant	-	NC_000014.9:g.31139917G>A	ExAC,TOPMed,gnomAD
rs776403711	p.Ser988Thr	missense variant	-	NC_000014.9:g.31139909A>T	ExAC,gnomAD
rs1331165045	p.Leu992Val	missense variant	-	NC_000014.9:g.31139897G>C	TOPMed
rs749782269	p.Ile994Val	missense variant	-	NC_000014.9:g.31136665T>C	ExAC,gnomAD
rs749782269	p.Ile994Leu	missense variant	-	NC_000014.9:g.31136665T>G	ExAC,gnomAD
rs1363868646	p.Thr996Arg	missense variant	-	NC_000014.9:g.31136658G>C	gnomAD
rs961869282	p.Arg998Ile	missense variant	-	NC_000014.9:g.31136652C>A	gnomAD
rs961869282	p.Arg998Lys	missense variant	-	NC_000014.9:g.31136652C>T	gnomAD
COSM2194841	p.Arg1000Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31136646C>T	NCI-TCGA Cosmic
rs756573551	p.Arg1000Pro	missense variant	-	NC_000014.9:g.31136646C>G	ExAC,gnomAD
rs781483780	p.Arg1002Trp	missense variant	-	NC_000014.9:g.31136641G>A	ExAC,TOPMed,gnomAD
rs755152978	p.Arg1002Gln	missense variant	-	NC_000014.9:g.31136640C>T	ExAC,gnomAD
rs930750776	p.Glu1004Gln	missense variant	-	NC_000014.9:g.31136635C>G	TOPMed
rs766420959	p.Arg1005His	missense variant	-	NC_000014.9:g.31136631C>T	ExAC,TOPMed,gnomAD
rs761775793	p.Ala1006Gly	missense variant	-	NC_000014.9:g.31136628G>C	ExAC,gnomAD
COSM4050477	p.Pro1007Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31136625G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu1012Phe	missense variant	-	NC_000014.9:g.31136609C>G	NCI-TCGA
rs1224163689	p.Lys1021Arg	missense variant	-	NC_000014.9:g.31136583T>C	TOPMed,gnomAD
rs763970973	p.Met1022Thr	missense variant	-	NC_000014.9:g.31136580A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu1023Lys	missense variant	-	NC_000014.9:g.31136578C>T	NCI-TCGA
rs1036797158	p.Ala1026Pro	missense variant	-	NC_000014.9:g.31136569C>G	TOPMed
rs375421611	p.Thr1027Ile	missense variant	-	NC_000014.9:g.31136565G>A	ESP,gnomAD
rs1339496274	p.Glu1029Lys	missense variant	-	NC_000014.9:g.31136560C>T	TOPMed
rs1364645482	p.Leu1031Val	missense variant	-	NC_000014.9:g.31136554G>C	gnomAD
rs1404654942	p.Gln1033Pro	missense variant	-	NC_000014.9:g.31136547T>G	gnomAD
rs1203966015	p.Tyr1034His	missense variant	-	NC_000014.9:g.31136545A>G	TOPMed
COSM1477529	p.Tyr1034Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.31136543G>C	NCI-TCGA Cosmic
rs760531445	p.Leu1035Phe	missense variant	-	NC_000014.9:g.31136542G>A	ExAC,gnomAD
rs1251581420	p.Leu1036Met	missense variant	-	NC_000014.9:g.31136539A>T	TOPMed
rs199517581	p.Met1038Arg	missense variant	-	NC_000014.9:g.31136532A>C	ESP,ExAC,gnomAD
rs1296538647	p.Ala1040Thr	missense variant	-	NC_000014.9:g.31135612C>T	gnomAD
rs750443961	p.Lys1041Asn	missense variant	-	NC_000014.9:g.31135607T>G	ExAC,gnomAD
NCI-TCGA novel	p.Tyr1044His	missense variant	-	NC_000014.9:g.31135600A>G	NCI-TCGA
NCI-TCGA novel	p.Asp1045His	missense variant	-	NC_000014.9:g.31135597C>G	NCI-TCGA
rs1171264765	p.Arg1048Gln	missense variant	-	NC_000014.9:g.31135587C>T	gnomAD
rs764022151	p.Ser1049Cys	missense variant	-	NC_000014.9:g.31135584G>C	ExAC,gnomAD
COSM1323515	p.Arg1055Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.31135567G>A	NCI-TCGA Cosmic
rs1178270575	p.Arg1055Gln	missense variant	-	NC_000014.9:g.31135566C>T	gnomAD
rs1433411090	p.Lys1056Thr	missense variant	-	NC_000014.9:g.31135563T>G	gnomAD
rs1180986608	p.Leu1057Ile	missense variant	-	NC_000014.9:g.31135561A>T	TOPMed
COSM1477528	p.Arg1058Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31135557C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1059Ter	stop gained	-	NC_000014.9:g.31135555C>A	NCI-TCGA
rs1003100577	p.Gly1060Arg	missense variant	-	NC_000014.9:g.31135552C>T	TOPMed
rs1455290943	p.Asn1062His	missense variant	-	NC_000014.9:g.31135546T>G	TOPMed
rs767187305	p.Ile1064Met	missense variant	-	NC_000014.9:g.31135538T>C	ExAC,gnomAD
rs752588141	p.Ile1064Val	missense variant	-	NC_000014.9:g.31135540T>C	ExAC,TOPMed,gnomAD
rs759336398	p.Arg1066Trp	missense variant	-	NC_000014.9:g.31135534G>A	ExAC,gnomAD
COSM4050476	p.His1067Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31135531G>A	NCI-TCGA Cosmic
rs1239359996	p.Gln1068Arg	missense variant	-	NC_000014.9:g.31135527T>C	gnomAD
rs1203564398	p.Asp1070Asn	missense variant	-	NC_000014.9:g.31135522C>T	gnomAD
rs939054702	p.Asn1074His	missense variant	-	NC_000014.9:g.31135510T>G	TOPMed,gnomAD
rs939054702	p.Asn1074Tyr	missense variant	-	NC_000014.9:g.31135510T>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asn1074Asp	missense variant	-	NC_000014.9:g.31135510T>C	NCI-TCGA
rs1234349543	p.Ile1077Met	missense variant	-	NC_000014.9:g.31135499A>C	gnomAD
rs770653648	p.Trp1079Cys	missense variant	-	NC_000014.9:g.31135493C>A	ExAC,gnomAD
rs1225579920	p.Thr1082Ala	missense variant	-	NC_000014.9:g.31135486T>C	gnomAD
rs1336112202	p.Ala1084Gly	missense variant	-	NC_000014.9:g.31135479G>C	gnomAD
rs762560439	p.Ala1084Thr	missense variant	-	NC_000014.9:g.31135480C>T	ExAC,gnomAD
rs1425494318	p.Lys1085Glu	missense variant	-	NC_000014.9:g.31135477T>C	TOPMed
rs772847091	p.Lys1085Ile	missense variant	-	NC_000014.9:g.31135476T>A	ExAC,gnomAD
rs751337934	p.Ala1094Thr	missense variant	-	NC_000014.9:g.31135170C>T	ExAC,gnomAD
rs766203387	p.Ala1094Asp	missense variant	-	NC_000014.9:g.31135169G>T	ExAC,gnomAD
rs1396429390	p.Gly1097Glu	missense variant	-	NC_000014.9:g.31135160C>T	gnomAD
rs1171443767	p.Val1099Ile	missense variant	-	NC_000014.9:g.31135155C>T	TOPMed
rs533239121	p.Thr1102Met	missense variant	-	NC_000014.9:g.31135145G>A	1000Genomes,ExAC,gnomAD
rs1375116483	p.Ser1104Ala	missense variant	-	NC_000014.9:g.31135140A>C	TOPMed
NCI-TCGA novel	p.Gly1106Glu	missense variant	-	NC_000014.9:g.31135133C>T	NCI-TCGA
rs1398262686	p.Arg1113His	missense variant	-	NC_000014.9:g.31135112C>T	TOPMed,gnomAD
rs374023878	p.Arg1113Cys	missense variant	-	NC_000014.9:g.31135113G>A	ESP,ExAC,gnomAD
rs777023454	p.Ile1117Val	missense variant	-	NC_000014.9:g.31135101T>C	ExAC
rs1188832748	p.Leu1118Pro	missense variant	-	NC_000014.9:g.31135097A>G	gnomAD
rs1359909331	p.Ser1119Asn	missense variant	-	NC_000014.9:g.31135094C>T	TOPMed,gnomAD
rs544195129	p.Arg1120His	missense variant	-	NC_000014.9:g.31135091C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs544195129	p.Arg1120Leu	missense variant	-	NC_000014.9:g.31135091C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs962265201	p.Arg1120Cys	missense variant	-	NC_000014.9:g.31135092G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asn1122Asp	missense variant	-	NC_000014.9:g.31135086T>C	NCI-TCGA
rs1220435075	p.Ser1123Ter	stop gained	-	NC_000014.9:g.31135082G>C	gnomAD
rs775827092	p.Asn1126Ser	missense variant	-	NC_000014.9:g.31135073T>C	ExAC,gnomAD
rs1325742470	p.Asn1130Ser	missense variant	-	NC_000014.9:g.31135061T>C	gnomAD
rs779157588	p.Asn1134Ser	missense variant	-	NC_000014.9:g.31135049T>C	ExAC,gnomAD
rs981310714	p.Ala1138Val	missense variant	-	NC_000014.9:g.31135037G>A	TOPMed
rs1302113700	p.Ile1139Leu	missense variant	-	NC_000014.9:g.31135035T>G	gnomAD
rs1302113700	p.Ile1139Val	missense variant	-	NC_000014.9:g.31135035T>C	gnomAD
rs1422270598	p.Gly1142Cys	missense variant	-	NC_000014.9:g.31135026C>A	gnomAD
rs1163296253	p.Trp1144Arg	missense variant	-	NC_000014.9:g.31135020A>G	gnomAD
rs749331678	p.Val1145Met	missense variant	-	NC_000014.9:g.31135017C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile1146Met	missense variant	-	NC_000014.9:g.31135012T>C	NCI-TCGA
rs1173057708	p.Pro1147Leu	missense variant	-	NC_000014.9:g.31135010G>A	gnomAD
rs766258183	p.Arg1153Cys	missense variant	-	NC_000014.9:g.31134993G>A	ExAC,gnomAD
rs1338732936	p.Arg1156Cys	missense variant	-	NC_000014.9:g.31134984G>A	gnomAD
rs764890856	p.Asn1165Ser	missense variant	-	NC_000014.9:g.31134956T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn1165Ile	missense variant	-	NC_000014.9:g.31134956T>A	NCI-TCGA
rs761239314	p.Val1167Phe	missense variant	-	NC_000014.9:g.31134951C>A	ExAC,gnomAD
rs1476556069	p.Phe1168Leu	missense variant	-	NC_000014.9:g.31134946G>C	gnomAD
rs776138734	p.Lys1172Arg	missense variant	-	NC_000014.9:g.31134935T>C	ExAC,TOPMed,gnomAD
rs1176091257	p.Trp1177Ter	stop gained	-	NC_000014.9:g.31134919C>T	TOPMed
rs764575979	p.Ser1179Tyr	missense variant	-	NC_000014.9:g.31134914G>T	ExAC,gnomAD
rs761154685	p.Leu1180Ser	missense variant	-	NC_000014.9:g.31134911A>G	ExAC,TOPMed
rs1390295200	p.Thr1182Ile	missense variant	-	NC_000014.9:g.31134905G>A	gnomAD
rs1173415506	p.His1183Tyr	missense variant	-	NC_000014.9:g.31134903G>A	gnomAD
rs772458480	p.His1183Arg	missense variant	-	NC_000014.9:g.31134902T>C	ExAC,gnomAD
rs1174678041	p.Cys1187Tyr	missense variant	-	NC_000014.9:g.31134890C>T	gnomAD
rs774451100	p.Asn1190Ser	missense variant	-	NC_000014.9:g.31134881T>C	ExAC,TOPMed,gnomAD
rs1181265837	p.Glu1191Gly	missense variant	-	NC_000014.9:g.31134878T>C	gnomAD
rs760140425	p.Thr1195Ala	missense variant	-	NC_000014.9:g.31133671T>C	ExAC,gnomAD
rs1278950807	p.Thr1197Ser	missense variant	-	NC_000014.9:g.31133665T>A	gnomAD
rs1204205614	p.Thr1197Asn	missense variant	-	NC_000014.9:g.31133664G>T	gnomAD
rs1488131733	p.Asp1205Asn	missense variant	-	NC_000014.9:g.31133641C>T	TOPMed
rs1488131733	p.Asp1205His	missense variant	-	NC_000014.9:g.31133641C>G	TOPMed
COSM1300561	p.Glu1206Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31133636C>G	NCI-TCGA Cosmic
COSM3793655	p.Glu1206Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31133638C>G	NCI-TCGA Cosmic
COSM3793654	p.Trp1210Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31133625C>A	NCI-TCGA Cosmic
rs753228146	p.Arg1214Lys	missense variant	-	NC_000014.9:g.31133613C>T	ExAC,gnomAD
rs753228146	p.Arg1214Ile	missense variant	-	NC_000014.9:g.31133613C>A	ExAC,gnomAD
rs767954866	p.Ile1215Met	missense variant	-	NC_000014.9:g.31133609A>C	ExAC,gnomAD
rs1340010577	p.Lys1216Gln	missense variant	-	NC_000014.9:g.31133608T>G	TOPMed,gnomAD
rs1313519147	p.Met1218Ile	missense variant	-	NC_000014.9:g.31133600C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gly1219Glu	missense variant	-	NC_000014.9:g.31133598C>T	NCI-TCGA
NCI-TCGA novel	p.Gly1219Trp	missense variant	-	NC_000014.9:g.31133599C>A	NCI-TCGA
COSM3689925	p.Lys1220Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31133596T>C	NCI-TCGA Cosmic
rs1450694238	p.Lys1220Ile	missense variant	-	NC_000014.9:g.31133595T>A	gnomAD
rs568495561	p.Lys1220Asn	missense variant	-	NC_000014.9:g.31133594T>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1233Arg	missense variant	-	NC_000014.9:g.31133557C>G	NCI-TCGA
COSM955261	p.Glu1235Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31133551C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1235Ter	stop gained	-	NC_000014.9:g.31133551C>A	NCI-TCGA
NCI-TCGA novel	p.Leu1236ThrPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.31133548_31133549insT	NCI-TCGA
rs763217492	p.Thr1239Ala	missense variant	-	NC_000014.9:g.31133539T>C	ExAC,gnomAD
rs773208064	p.Val1240Ile	missense variant	-	NC_000014.9:g.31133536C>T	ExAC,gnomAD
rs770022695	p.Asn1241Ile	missense variant	-	NC_000014.9:g.31133532T>A	ExAC
rs748187834	p.Gly1242Glu	missense variant	-	NC_000014.9:g.31133529C>T	ExAC,gnomAD
rs1473707557	p.Cys1244Tyr	missense variant	-	NC_000014.9:g.31133523C>T	gnomAD
rs1237870311	p.Glu1245Gly	missense variant	-	NC_000014.9:g.31133520T>C	gnomAD
rs780150180	p.Gln1247Ter	stop gained	-	NC_000014.9:g.31133515G>A	ExAC
rs1253683954	p.Ala1251Val	missense variant	-	NC_000014.9:g.31133408G>A	gnomAD
rs1180855414	p.Lys1253Glu	missense variant	-	NC_000014.9:g.31133403T>C	gnomAD
NCI-TCGA novel	p.Ala1255Thr	missense variant	-	NC_000014.9:g.31133397C>T	NCI-TCGA
rs770079178	p.Ala1257Gly	missense variant	-	NC_000014.9:g.31133390G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala1257Val	missense variant	-	NC_000014.9:g.31133390G>A	NCI-TCGA
rs761985708	p.Arg1261Trp	missense variant	-	NC_000014.9:g.31133379G>A	ExAC,gnomAD
rs772194444	p.Arg1261Gln	missense variant	-	NC_000014.9:g.31133378C>T	ExAC,gnomAD
rs772194444	p.Arg1261Pro	missense variant	-	NC_000014.9:g.31133378C>G	ExAC,gnomAD
rs745794632	p.Arg1263Gly	missense variant	-	NC_000014.9:g.31133373T>C	ExAC,gnomAD
rs774052729	p.Arg1264Cys	missense variant	-	NC_000014.9:g.31133370G>A	ExAC,TOPMed,gnomAD
rs748980402	p.Val1266Ile	missense variant	-	NC_000014.9:g.31133364C>T	ExAC,gnomAD
rs1279187861	p.Arg1267His	missense variant	-	NC_000014.9:g.31133360C>T	gnomAD
rs777407786	p.Val1270Leu	missense variant	-	NC_000014.9:g.31133352C>G	ExAC,TOPMed,gnomAD
rs777407786	p.Val1270Ile	missense variant	-	NC_000014.9:g.31133352C>T	ExAC,TOPMed,gnomAD
rs755760722	p.Met1274Val	missense variant	-	NC_000014.9:g.31133340T>C	ExAC,gnomAD
rs375623416	p.Met1274Ile	missense variant	-	NC_000014.9:g.31133338C>A	ESP,ExAC,TOPMed,gnomAD
rs375623416	p.Met1274Ile	missense variant	-	NC_000014.9:g.31133338C>T	ESP,ExAC,TOPMed,gnomAD
rs1434233403	p.Ala1278Gly	missense variant	-	NC_000014.9:g.31133327G>C	TOPMed
rs201513517	p.Arg1279His	missense variant	-	NC_000014.9:g.31133324C>T	ESP,ExAC,TOPMed,gnomAD
rs780660891	p.Arg1279Cys	missense variant	-	NC_000014.9:g.31133325G>A	ExAC,gnomAD
rs1463955006	p.Val1280Ile	missense variant	-	NC_000014.9:g.31133322C>T	gnomAD
rs752142523	p.Ile1281Val	missense variant	-	NC_000014.9:g.31133319T>C	ExAC,TOPMed,gnomAD
COSM6075601	p.Arg1282Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31133315C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Trp1286Cys	missense variant	-	NC_000014.9:g.31133302C>A	NCI-TCGA
rs1479912522	p.Trp1286Ter	stop gained	-	NC_000014.9:g.31133303C>T	gnomAD
rs1317808549	p.Trp1288Arg	missense variant	-	NC_000014.9:g.31133298A>G	TOPMed,gnomAD
rs368630382	p.Arg1289Gln	missense variant	-	NC_000014.9:g.31133294C>T	ESP,ExAC,TOPMed,gnomAD
COSM697977	p.Asp1290His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31133292C>G	NCI-TCGA Cosmic
rs750748737	p.Asp1292Asn	missense variant	-	NC_000014.9:g.31133286C>T	ExAC,gnomAD
rs765619011	p.Gly1293Ser	missense variant	-	NC_000014.9:g.31133283C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser1294Asn	missense variant	-	NC_000014.9:g.31133279C>T	NCI-TCGA
rs762112462	p.Pro1295Thr	missense variant	-	NC_000014.9:g.31133277G>T	ExAC,gnomAD
rs1489745052	p.Asn1307Asp	missense variant	-	NC_000014.9:g.31133241T>C	TOPMed
rs749150360	p.Asn1307Ser	missense variant	-	NC_000014.9:g.31133240T>C	ExAC,gnomAD
rs749150360	p.Asn1307Thr	missense variant	-	NC_000014.9:g.31133240T>G	ExAC,gnomAD
rs200455930	p.Ile1310Met	missense variant	-	NC_000014.9:g.31129441A>C	ESP,ExAC,TOPMed,gnomAD
rs1434872095	p.Val1312Ile	missense variant	-	NC_000014.9:g.31129437C>T	TOPMed
rs760814555	p.Asp1315Glu	missense variant	-	NC_000014.9:g.31129426A>T	ExAC,TOPMed,gnomAD
rs1309845920	p.Ala1316Val	missense variant	-	NC_000014.9:g.31129424G>A	gnomAD
rs374628401	p.Gly1317Arg	missense variant	-	NC_000014.9:g.31129422C>G	ESP,ExAC,TOPMed,gnomAD
rs1304333819	p.Tyr1322Phe	missense variant	-	NC_000014.9:g.31129406T>A	gnomAD
rs370593762	p.Arg1323His	missense variant	-	NC_000014.9:g.31129403C>T	ESP,ExAC,TOPMed,gnomAD
rs1156369293	p.Met1324Val	missense variant	-	NC_000014.9:g.31129401T>C	gnomAD
rs1163709999	p.Gly1325Asp	missense variant	-	NC_000014.9:g.31129397C>T	TOPMed,gnomAD
rs762858512	p.Ala1326Thr	missense variant	-	NC_000014.9:g.31129395C>T	ExAC,TOPMed,gnomAD
rs1381520470	p.Lys1329Arg	missense variant	-	NC_000014.9:g.31129385T>C	gnomAD
COSM955260	p.Leu1332Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31129377G>T	NCI-TCGA Cosmic
rs761550936	p.Lys1333Arg	missense variant	-	NC_000014.9:g.31129373T>C	ExAC,gnomAD
rs1182745774	p.Gly1337Ala	missense variant	-	NC_000014.9:g.31129361C>G	gnomAD
rs1218937677	p.Asp1339Asn	missense variant	-	NC_000014.9:g.31129356C>T	gnomAD
rs1354472615	p.Asp1339Glu	missense variant	-	NC_000014.9:g.31129354G>C	gnomAD
rs768122107	p.Pro1340Ser	missense variant	-	NC_000014.9:g.31129353G>A	ExAC,TOPMed,gnomAD
rs779414861	p.Pro1348Leu	missense variant	-	NC_000014.9:g.31129328G>A	ExAC,TOPMed,gnomAD
rs1319789232	p.Pro1348Ser	missense variant	-	NC_000014.9:g.31129329G>A	gnomAD
rs779414861	p.Pro1348Arg	missense variant	-	NC_000014.9:g.31129328G>C	ExAC,TOPMed,gnomAD
rs1396381071	p.Val1349Leu	missense variant	-	NC_000014.9:g.31129326C>G	TOPMed,gnomAD
rs750135625	p.Ser1350Ala	missense variant	-	NC_000014.9:g.31129323A>C	TOPMed,gnomAD
rs750135625	p.Ser1350Thr	missense variant	-	NC_000014.9:g.31129323A>T	TOPMed,gnomAD
rs1321651503	p.Thr1352Ala	missense variant	-	NC_000014.9:g.31129317T>C	TOPMed
rs746344166	p.Ser1354Thr	missense variant	-	NC_000014.9:g.31129311A>T	ExAC,gnomAD
rs779521911	p.Gly1355Asp	missense variant	-	NC_000014.9:g.31129307C>T	ExAC,gnomAD
rs548230741	p.Thr1356Ala	missense variant	-	NC_000014.9:g.31129305T>C	1000Genomes,ExAC,gnomAD
rs754189564	p.Thr1357Ala	missense variant	-	NC_000014.9:g.31129302T>C	ExAC,TOPMed,gnomAD
rs778124249	p.Thr1357Met	missense variant	-	NC_000014.9:g.31129301G>A	ExAC,TOPMed,gnomAD
rs1233368648	p.Ser1361Ile	missense variant	-	NC_000014.9:g.31129289C>A	TOPMed
NCI-TCGA novel	p.Ser1361Asn	missense variant	-	NC_000014.9:g.31129289C>T	NCI-TCGA
rs1007670842	p.Ser1362Asn	missense variant	-	NC_000014.9:g.31129286C>T	TOPMed
rs376334029	p.Asn1367Ser	missense variant	-	NC_000014.9:g.31129271T>C	ESP,ExAC,gnomAD
rs759576521	p.Pro1369Ala	missense variant	-	NC_000014.9:g.31129266G>C	ExAC,gnomAD
rs750386576	p.Asp1370Glu	missense variant	-	NC_000014.9:g.31129261G>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp1370Tyr	missense variant	-	NC_000014.9:g.31129263C>A	NCI-TCGA
rs1487499741	p.Thr1372Ile	missense variant	-	NC_000014.9:g.31129256G>A	TOPMed,gnomAD
rs1486751293	p.Ser1373Tyr	missense variant	-	NC_000014.9:g.31129253G>T	TOPMed
rs761596142	p.Ser1373Thr	missense variant	-	NC_000014.9:g.31129254A>T	ExAC,gnomAD
rs761596142	p.Ser1373Pro	missense variant	-	NC_000014.9:g.31129254A>G	ExAC,gnomAD
rs763192596	p.Gly1377Ala	missense variant	-	NC_000014.9:g.31129241C>G	ExAC,TOPMed,gnomAD
rs763192596	p.Gly1377Val	missense variant	-	NC_000014.9:g.31129241C>A	ExAC,TOPMed,gnomAD
rs763192596	p.Gly1377Asp	missense variant	-	NC_000014.9:g.31129241C>T	ExAC,TOPMed,gnomAD
rs1201706783	p.Ser1379Leu	missense variant	-	NC_000014.9:g.31129235G>A	TOPMed
COSM261247	p.Ser1380Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31129232C>A	NCI-TCGA Cosmic
rs1487553478	p.Ser1380Asn	missense variant	-	NC_000014.9:g.31129232C>T	gnomAD
rs1340684652	p.Ser1380Gly	missense variant	-	NC_000014.9:g.31129233T>C	gnomAD
rs1472304612	p.Arg1381Lys	missense variant	-	NC_000014.9:g.31129229C>T	TOPMed
rs1322368153	p.Gly1383Arg	missense variant	-	NC_000014.9:g.31129224C>G	gnomAD
rs72670356	p.Ser1384Gly	missense variant	-	NC_000014.9:g.31129221T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1393562363	p.Ser1384Asn	missense variant	-	NC_000014.9:g.31129220C>T	gnomAD
COSM1477527	p.Ser1385Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31129218T>G	NCI-TCGA Cosmic
rs547429166	p.Val1388Met	missense variant	-	NC_000014.9:g.31129209C>T	1000Genomes,ExAC,gnomAD
rs547429166	p.Val1388Leu	missense variant	-	NC_000014.9:g.31129209C>A	1000Genomes,ExAC,gnomAD
rs775103774	p.Cys1389Arg	missense variant	-	NC_000014.9:g.31129206A>G	ExAC,gnomAD
rs920943878	p.Ser1390Asn	missense variant	-	NC_000014.9:g.31129202C>T	TOPMed
rs200985475	p.Val1391Met	missense variant	-	NC_000014.9:g.31129200C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200985475	p.Val1391Leu	missense variant	-	NC_000014.9:g.31129200C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779568622	p.Ser1393Asn	missense variant	-	NC_000014.9:g.31129193C>T	ExAC,gnomAD
rs550393312	p.Asp1396Asn	missense variant	-	NC_000014.9:g.31129185C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1398Asn	missense variant	-	NC_000014.9:g.31129178C>T	NCI-TCGA
COSM3987619	p.Gly1400Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31129172C>A	NCI-TCGA Cosmic
rs777979962	p.Ser1401Leu	missense variant	-	NC_000014.9:g.31129169G>A	ExAC,TOPMed,gnomAD
rs752896331	p.Thr1402Ala	missense variant	-	NC_000014.9:g.31129167T>C	ExAC,gnomAD
rs368839384	p.Lys1403Arg	missense variant	-	NC_000014.9:g.31129163T>C	ESP,TOPMed
NCI-TCGA novel	p.Lys1403Asn	missense variant	-	NC_000014.9:g.31129162T>A	NCI-TCGA
rs781430645	p.Thr1404Met	missense variant	-	NC_000014.9:g.31129160G>A	ExAC,gnomAD
rs751568766	p.Arg1406Trp	missense variant	-	NC_000014.9:g.31129155G>A	ExAC,TOPMed,gnomAD
rs202133227	p.Arg1406Pro	missense variant	-	NC_000014.9:g.31129154C>G	ESP,ExAC,TOPMed,gnomAD
rs202133227	p.Arg1406Gln	missense variant	-	NC_000014.9:g.31129154C>T	ESP,ExAC,TOPMed,gnomAD
rs761722875	p.Arg1407Ile	missense variant	-	NC_000014.9:g.31129151C>A	ExAC,gnomAD
rs753712447	p.Val1411Ile	missense variant	-	NC_000014.9:g.31129140C>T	ExAC,gnomAD
rs763765447	p.Met1412Ile	missense variant	-	NC_000014.9:g.31129135C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser1415Arg	missense variant	-	NC_000014.9:g.31129126A>C	NCI-TCGA
rs1401818956	p.Val1417Ala	missense variant	-	NC_000014.9:g.31129121A>G	gnomAD
rs369383258	p.His1423Arg	missense variant	-	NC_000014.9:g.31129103T>C	ESP,ExAC,gnomAD
rs369383258	p.His1423Leu	missense variant	-	NC_000014.9:g.31129103T>A	ESP,ExAC,gnomAD
rs75345169	p.Ile1426Val	missense variant	-	NC_000014.9:g.31129095T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile1426SerPheSerTerUnk	frameshift	-	NC_000014.9:g.31129094_31129095insATAC	NCI-TCGA
rs1181103208	p.Val1427Leu	missense variant	-	NC_000014.9:g.31129092C>G	gnomAD
rs1181103208	p.Val1427Phe	missense variant	-	NC_000014.9:g.31129092C>A	gnomAD
NCI-TCGA novel	p.Val1428LeuPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.31129093_31129094insCT	NCI-TCGA
rs769971819	p.Leu1429Val	missense variant	-	NC_000014.9:g.31129086G>C	-
NCI-TCGA novel	p.Leu1429Ile	missense variant	-	NC_000014.9:g.31129086G>T	NCI-TCGA
rs1180318371	p.Ser1430Pro	missense variant	-	NC_000014.9:g.31129083A>G	gnomAD
rs1458026867	p.Ser1431Thr	missense variant	-	NC_000014.9:g.31129080A>T	gnomAD
rs1482799232	p.Glu1433Ala	missense variant	-	NC_000014.9:g.31129073T>G	TOPMed
NCI-TCGA novel	p.Val1435Asp	missense variant	-	NC_000014.9:g.31129067A>T	NCI-TCGA
rs771616409	p.Val1435Ile	missense variant	-	NC_000014.9:g.31129068C>T	ExAC,TOPMed,gnomAD
rs770081924	p.Ser1443Pro	missense variant	-	NC_000014.9:g.31129044A>G	ExAC,gnomAD
rs781393992	p.Ser1445Arg	missense variant	-	NC_000014.9:g.31129038T>G	ExAC,gnomAD
rs1439475502	p.Ser1449Gly	missense variant	-	NC_000014.9:g.31129026T>C	gnomAD
rs753748185	p.Thr1452Ala	missense variant	-	NC_000014.9:g.31129017T>C	ExAC,gnomAD
rs965270535	p.Thr1452Ile	missense variant	-	NC_000014.9:g.31129016G>A	TOPMed,gnomAD
rs372829512	p.Ala1453Val	missense variant	-	NC_000014.9:g.31129013G>A	ESP,ExAC,TOPMed,gnomAD
rs1378455661	p.Thr1455Met	missense variant	-	NC_000014.9:g.31129007G>A	TOPMed,gnomAD
rs1311569388	p.Asn1459Asp	missense variant	-	NC_000014.9:g.31128996T>C	TOPMed
rs759243908	p.Glu1461Lys	missense variant	-	NC_000014.9:g.31128990C>T	ExAC,gnomAD
rs1489289668	p.Leu1464Ile	missense variant	-	NC_000014.9:g.31128981A>T	gnomAD
COSM1369530	p.Gly1465Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31128977C>T	NCI-TCGA Cosmic
rs766020309	p.Gly1465Ala	missense variant	-	NC_000014.9:g.31128977C>G	ExAC,TOPMed,gnomAD
COSM3495670	p.Pro1466Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31128975G>A	NCI-TCGA Cosmic
rs1215315817	p.Ser1468Gly	missense variant	-	NC_000014.9:g.31128969T>C	gnomAD
rs762479037	p.Ser1469Phe	missense variant	-	NC_000014.9:g.31128965G>A	ExAC,gnomAD
rs367637104	p.Val1470Phe	missense variant	-	NC_000014.9:g.31128963C>A	ESP,ExAC,TOPMed,gnomAD
rs748524391	p.Arg1471Cys	missense variant	-	NC_000014.9:g.31128960G>A	ExAC,TOPMed,gnomAD
rs375059610	p.Arg1471His	missense variant	-	NC_000014.9:g.31128959C>T	ESP,ExAC,TOPMed,gnomAD
rs375059610	p.Arg1471Leu	missense variant	-	NC_000014.9:g.31128959C>A	ESP,ExAC,TOPMed,gnomAD
rs748524391	p.Arg1471Ser	missense variant	-	NC_000014.9:g.31128960G>T	ExAC,TOPMed,gnomAD
rs1450628503	p.Pro1473Ala	missense variant	-	NC_000014.9:g.31128954G>C	gnomAD
rs768912046	p.Gly1474Arg	missense variant	-	NC_000014.9:g.31128951C>T	ExAC,TOPMed,gnomAD
rs768912046	p.Gly1474Trp	missense variant	-	NC_000014.9:g.31128951C>A	ExAC,TOPMed,gnomAD
rs1284160779	p.Gly1474Ala	missense variant	-	NC_000014.9:g.31128950C>G	TOPMed,gnomAD
rs1216097485	p.Glu1475Gly	missense variant	-	NC_000014.9:g.31128947T>C	gnomAD
rs1362569251	p.Ala1478Thr	missense variant	-	NC_000014.9:g.31128939C>T	gnomAD
rs780207610	p.Ile1479Val	missense variant	-	NC_000014.9:g.31128936T>C	ExAC,TOPMed,gnomAD
rs1401228434	p.Ser1480Cys	missense variant	-	NC_000014.9:g.31128932G>C	gnomAD
rs758428010	p.Met1481Arg	missense variant	-	NC_000014.9:g.31128929A>C	ExAC,TOPMed,gnomAD
rs758428010	p.Met1481Thr	missense variant	-	NC_000014.9:g.31128929A>G	ExAC,TOPMed,gnomAD
rs1412965922	p.Met1481Val	missense variant	-	NC_000014.9:g.31128930T>C	gnomAD
rs1473639868	p.Ile1483Leu	missense variant	-	NC_000014.9:g.31128924T>G	gnomAD
rs745901352	p.Val1484Ile	missense variant	-	NC_000014.9:g.31128921C>T	ExAC,gnomAD
rs777575171	p.Val1486Ile	missense variant	-	NC_000014.9:g.31128915C>T	ExAC,gnomAD
rs372076268	p.Ser1488Cys	missense variant	-	NC_000014.9:g.31128908G>C	ESP,ExAC,TOPMed,gnomAD
rs767390756	p.Val1494Ile	missense variant	-	NC_000014.9:g.31128891C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser1495Phe	missense variant	-	NC_000014.9:g.31128887G>A	NCI-TCGA
rs754782224	p.Glu1501Ala	missense variant	-	NC_000014.9:g.31128869T>G	ExAC,gnomAD
rs1355846019	p.Arg1506Gln	missense variant	-	NC_000014.9:g.31128854C>T	TOPMed
rs199605586	p.Ser1509Arg	missense variant	-	NC_000014.9:g.31128844G>C	1000Genomes,ExAC,gnomAD
rs1435844986	p.Ser1509Ile	missense variant	-	NC_000014.9:g.31128845C>A	gnomAD
rs762378038	p.Ser1509Gly	missense variant	-	NC_000014.9:g.31128846T>C	ExAC,TOPMed,gnomAD
rs1454405452	p.Arg1515Ile	missense variant	-	NC_000014.9:g.31128827C>A	TOPMed
rs374025669	p.Val1518Met	missense variant	-	NC_000014.9:g.31128819C>T	ESP,ExAC,TOPMed,gnomAD
rs374025669	p.Val1518Leu	missense variant	-	NC_000014.9:g.31128819C>A	ESP,ExAC,TOPMed,gnomAD
rs769038572	p.Ala1523Asp	missense variant	-	NC_000014.9:g.31128803G>T	ExAC,gnomAD
rs1477395652	p.Ala1524Gly	missense variant	-	NC_000014.9:g.31128800G>C	gnomAD
rs1186636074	p.Ala1524Ser	missense variant	-	NC_000014.9:g.31128801C>A	gnomAD
rs1244422823	p.Met1528Val	missense variant	-	NC_000014.9:g.31128789T>C	gnomAD
NCI-TCGA novel	p.Ser1529Arg	missense variant	-	NC_000014.9:g.31128784G>T	NCI-TCGA
rs760978985	p.Ser1530Cys	missense variant	-	NC_000014.9:g.31128782G>C	ExAC,gnomAD
rs775702548	p.Ser1539Leu	missense variant	-	NC_000014.9:g.31128755G>A	ExAC,gnomAD
rs1197126457	p.Ser1544Gly	missense variant	-	NC_000014.9:g.31128741T>C	gnomAD
rs1320360107	p.Val1549Leu	missense variant	-	NC_000014.9:g.31128726C>A	gnomAD
rs772269848	p.Arg1551Lys	missense variant	-	NC_000014.9:g.31128719C>T	ExAC,gnomAD
rs545030319	p.Ala1556Val	missense variant	-	NC_000014.9:g.31128704G>A	1000Genomes
rs779029675	p.Arg1557Trp	missense variant	-	NC_000014.9:g.31128702G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1557Gln	missense variant	-	NC_000014.9:g.31128701C>T	NCI-TCGA
NCI-TCGA novel	p.Asn1559Asp	missense variant	-	NC_000014.9:g.31128696T>C	NCI-TCGA
NCI-TCGA novel	p.Asn1559His	missense variant	-	NC_000014.9:g.31128696T>G	NCI-TCGA
rs576724470	p.Thr1561Met	missense variant	-	NC_000014.9:g.31128689G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM432999	p.Leu1566Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31128675G>C	NCI-TCGA Cosmic
rs200510869	p.Asn1574His	missense variant	-	NC_000014.9:g.31128651T>G	ExAC,TOPMed,gnomAD
rs1406389632	p.Thr1575Ser	missense variant	-	NC_000014.9:g.31128647G>C	TOPMed
rs758051610	p.Asn1576Asp	missense variant	-	NC_000014.9:g.31128645T>C	ExAC,TOPMed,gnomAD
rs1318116922	p.Asn1576Ser	missense variant	-	NC_000014.9:g.31128644T>C	TOPMed
NCI-TCGA novel	p.Leu1578Ser	missense variant	-	NC_000014.9:g.31128638A>G	NCI-TCGA
NCI-TCGA novel	p.Ala1586Ser	missense variant	-	NC_000014.9:g.31128615C>A	NCI-TCGA
rs749947099	p.Thr1587Ala	missense variant	-	NC_000014.9:g.31128612T>C	ExAC
rs1012937687	p.Thr1587Ile	missense variant	-	NC_000014.9:g.31128006G>A	TOPMed,gnomAD
rs1229008829	p.Ser1588Ala	missense variant	-	NC_000014.9:g.31128004A>C	TOPMed
rs1307512025	p.Ser1588Tyr	missense variant	-	NC_000014.9:g.31128003G>T	gnomAD
rs768715036	p.Ala1593Ser	missense variant	-	NC_000014.9:g.31127989C>A	ExAC,gnomAD
rs1264603923	p.Gln1594Arg	missense variant	-	NC_000014.9:g.31127985T>C	TOPMed
NCI-TCGA novel	p.Pro1597Leu	missense variant	-	NC_000014.9:g.31127976G>A	NCI-TCGA
rs746854990	p.Asn1598Asp	missense variant	-	NC_000014.9:g.31127974T>C	ExAC,gnomAD
COSM4856646	p.Leu1599Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31127969C>A	NCI-TCGA Cosmic
rs758024349	p.Thr1601Ala	missense variant	-	NC_000014.9:g.31127965T>C	ExAC,gnomAD
rs1463408155	p.Thr1601Ile	missense variant	-	NC_000014.9:g.31127964G>A	TOPMed
rs750119816	p.Pro1602Ala	missense variant	-	NC_000014.9:g.31127962G>C	ExAC,gnomAD
rs1295737931	p.Gly1603Asp	missense variant	-	NC_000014.9:g.31127958C>T	TOPMed,gnomAD
rs1295737931	p.Gly1603Val	missense variant	-	NC_000014.9:g.31127958C>A	TOPMed,gnomAD
rs778379153	p.Thr1604Ala	missense variant	-	NC_000014.9:g.31127956T>C	ExAC,gnomAD
rs756772426	p.Thr1605Ala	missense variant	-	NC_000014.9:g.31127953T>C	ExAC,gnomAD
rs755444106	p.Thr1607Ala	missense variant	-	NC_000014.9:g.31127947T>C	ExAC,TOPMed,gnomAD
rs755444106	p.Thr1607Pro	missense variant	-	NC_000014.9:g.31127947T>G	ExAC,TOPMed,gnomAD
rs370727683	p.Met1610Leu	missense variant	-	NC_000014.9:g.31127938T>G	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Met1610CysPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.31127939A>-	NCI-TCGA
rs370727683	p.Met1610Val	missense variant	-	NC_000014.9:g.31127938T>C	ESP,TOPMed,gnomAD
rs560262326	p.Ser1613Cys	missense variant	-	NC_000014.9:g.31127928G>C	1000Genomes,ExAC,gnomAD
rs756591245	p.Val1615Ile	missense variant	-	NC_000014.9:g.31127923C>T	ExAC,gnomAD
rs1377204468	p.Thr1616Ala	missense variant	-	NC_000014.9:g.31127920T>C	TOPMed
rs1218864201	p.Ser1617Gly	missense variant	-	NC_000014.9:g.31127917T>C	gnomAD
rs753043488	p.Ser1619Ile	missense variant	-	NC_000014.9:g.31127910C>A	ExAC,gnomAD
rs79845028	p.Asn1620Ser	missense variant	-	NC_000014.9:g.31127907T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767957790	p.Asn1620Asp	missense variant	-	NC_000014.9:g.31127908T>C	ExAC,gnomAD
rs766447879	p.Val1621Ala	missense variant	-	NC_000014.9:g.31127904A>G	ExAC,TOPMed,gnomAD
COSM4050472	p.Thr1623Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31127899T>C	NCI-TCGA Cosmic
rs763195575	p.Thr1623Ile	missense variant	-	NC_000014.9:g.31127898G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala1624Thr	missense variant	-	NC_000014.9:g.31127896C>T	NCI-TCGA
rs1275823372	p.Thr1625Pro	missense variant	-	NC_000014.9:g.31127893T>G	TOPMed,gnomAD
NCI-TCGA novel	p.Thr1626Pro	missense variant	-	NC_000014.9:g.31127890T>G	NCI-TCGA
NCI-TCGA novel	p.Thr1626Ile	missense variant	-	NC_000014.9:g.31127889G>A	NCI-TCGA
rs752035560	p.Thr1626Ala	missense variant	-	NC_000014.9:g.31127890T>C	ExAC,gnomAD
rs1457078143	p.Val1627Asp	missense variant	-	NC_000014.9:g.31127886A>T	TOPMed
NCI-TCGA novel	p.Ser1629Leu	missense variant	-	NC_000014.9:g.31127880G>A	NCI-TCGA
rs373851698	p.Val1630Phe	missense variant	-	NC_000014.9:g.31127878C>A	ESP,ExAC,TOPMed,gnomAD
rs1293480157	p.Gly1631Ser	missense variant	-	NC_000014.9:g.31127875C>T	gnomAD
rs1456803504	p.Gln1632Lys	missense variant	-	NC_000014.9:g.31127872G>T	gnomAD
rs1351989476	p.Gln1632Arg	missense variant	-	NC_000014.9:g.31127871T>C	gnomAD
rs947856558	p.Asn1636His	missense variant	-	NC_000014.9:g.31127860T>G	TOPMed,gnomAD
rs947856558	p.Asn1636Asp	missense variant	-	NC_000014.9:g.31127860T>C	TOPMed,gnomAD
rs369491723	p.Thr1637Ala	missense variant	-	NC_000014.9:g.31127857T>C	ESP,ExAC,gnomAD
COSM6140297	p.Ser1644Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.31127835G>C	NCI-TCGA Cosmic
rs377130302	p.Thr1645Pro	missense variant	-	NC_000014.9:g.31127833T>G	ESP,ExAC,TOPMed,gnomAD
rs756897529	p.Thr1645Ile	missense variant	-	NC_000014.9:g.31127832G>A	ExAC
NCI-TCGA novel	p.Ser1647ValPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.31127828G>-	NCI-TCGA
COSM1369529	p.Glu1648Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31127822C>A	NCI-TCGA Cosmic
rs999670209	p.Glu1648Asp	missense variant	-	NC_000014.9:g.31127822C>G	TOPMed,gnomAD
rs1284838163	p.Asp1650Glu	missense variant	-	NC_000014.9:g.31127816G>T	TOPMed
NCI-TCGA novel	p.Ser1658Phe	missense variant	-	NC_000014.9:g.31127793G>A	NCI-TCGA
NCI-TCGA novel	p.Asp1664Tyr	missense variant	-	NC_000014.9:g.31123039C>A	NCI-TCGA
rs1419084398	p.Arg1667Cys	missense variant	-	NC_000014.9:g.31123030G>A	TOPMed,gnomAD
rs371260055	p.Arg1667His	missense variant	-	NC_000014.9:g.31123029C>T	ESP,ExAC,TOPMed,gnomAD
rs1319870286	p.Thr1670Ser	missense variant	-	NC_000014.9:g.31123020G>C	gnomAD
rs1470375472	p.Leu1671Val	missense variant	-	NC_000014.9:g.31123018G>C	TOPMed,gnomAD
rs1185005076	p.Glu1674Gly	missense variant	-	NC_000014.9:g.31123008T>C	gnomAD
rs751999921	p.Asp1676Tyr	missense variant	-	NC_000014.9:g.31123003C>A	ExAC,gnomAD
rs751999921	p.Asp1676Asn	missense variant	-	NC_000014.9:g.31123003C>T	ExAC,gnomAD
COSM955259	p.Glu1679Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31122992C>A	NCI-TCGA Cosmic
rs758800109	p.Pro1682His	missense variant	-	NC_000014.9:g.31122984G>T	ExAC,gnomAD
rs750699847	p.Pro1684Ser	missense variant	-	NC_000014.9:g.31122979G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp1685Asn	missense variant	-	NC_000014.9:g.31122976C>T	NCI-TCGA
rs765499753	p.Glu1686Gln	missense variant	-	NC_000014.9:g.31122973C>G	ExAC,TOPMed,gnomAD
rs374874773	p.Glu1687Asp	missense variant	-	NC_000014.9:g.31122968T>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1687Lys	missense variant	-	NC_000014.9:g.31122970C>T	NCI-TCGA
rs759369572	p.Asp1688Glu	missense variant	-	NC_000014.9:g.31122965A>T	ExAC
rs767550410	p.Asp1688Gly	missense variant	-	NC_000014.9:g.31122966T>C	ExAC,gnomAD
rs774231157	p.Asp1689Glu	missense variant	-	NC_000014.9:g.31122962A>T	ExAC,gnomAD
rs543564118	p.Gln1696Pro	missense variant	-	NC_000014.9:g.31122942T>G	1000Genomes,ExAC,gnomAD
rs772854185	p.Gln1699His	missense variant	-	NC_000014.9:g.31122932T>G	ExAC,gnomAD
COSM4050469	p.Tyr1701His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31122928A>G	NCI-TCGA Cosmic
COSM6140298	p.Glu1702Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31122925C>T	NCI-TCGA Cosmic
rs747748452	p.Met1705Thr	missense variant	-	NC_000014.9:g.31122915A>G	ExAC,gnomAD
rs751510416	p.Arg1709Leu	missense variant	-	NC_000014.9:g.31121495C>A	ExAC,TOPMed,gnomAD
rs751510416	p.Arg1709His	missense variant	-	NC_000014.9:g.31121495C>T	ExAC,TOPMed,gnomAD
rs766236694	p.Pro1710Ala	missense variant	-	NC_000014.9:g.31121493G>C	ExAC,TOPMed,gnomAD
rs766236694	p.Pro1710Thr	missense variant	-	NC_000014.9:g.31121493G>T	ExAC,TOPMed,gnomAD
rs185437379	p.Gln1713His	missense variant	-	NC_000014.9:g.31121482T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1202696473	p.Arg1714Cys	missense variant	-	NC_000014.9:g.31121481G>A	TOPMed,gnomAD
rs370774239	p.Arg1714His	missense variant	-	NC_000014.9:g.31121480C>T	ESP,ExAC,TOPMed,gnomAD
rs776310462	p.Arg1715Ter	stop gained	-	NC_000014.9:g.31121478G>A	ExAC,gnomAD
rs369487877	p.Arg1715Pro	missense variant	-	NC_000014.9:g.31121477C>G	ExAC,gnomAD
rs369487877	p.Arg1715Gln	missense variant	-	NC_000014.9:g.31121477C>T	ExAC,gnomAD
rs539325099	p.Ala1716Thr	missense variant	-	NC_000014.9:g.31121475C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gly1717Val	missense variant	-	NC_000014.9:g.31121471C>A	NCI-TCGA
rs1301137243	p.Arg1719Cys	missense variant	-	NC_000014.9:g.31121466G>A	gnomAD
rs1442954371	p.Arg1719His	missense variant	-	NC_000014.9:g.31121465C>T	TOPMed,gnomAD
rs776147746	p.Ser1720Cys	missense variant	-	NC_000014.9:g.31121462G>C	ExAC,TOPMed,gnomAD
rs776147746	p.Ser1720Phe	missense variant	-	NC_000014.9:g.31121462G>A	ExAC,TOPMed,gnomAD
rs1330352440	p.Asp1721Gly	missense variant	-	NC_000014.9:g.31121459T>C	gnomAD
rs746293283	p.Thr1723Met	missense variant	-	NC_000014.9:g.31121453G>A	ExAC,TOPMed,gnomAD
rs1236293019	p.His1724Arg	missense variant	-	NC_000014.9:g.31121450T>C	gnomAD
rs779400024	p.His1725Pro	missense variant	-	NC_000014.9:g.31121447T>G	ExAC,gnomAD
rs779400024	p.His1725Arg	missense variant	-	NC_000014.9:g.31121447T>C	ExAC,gnomAD
rs754633025	p.Ser1729Leu	missense variant	-	NC_000014.9:g.31121435G>A	ExAC,gnomAD
rs1380093858	p.Gln1730Arg	missense variant	-	NC_000014.9:g.31121432T>C	gnomAD
COSM955258	p.Val1734Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31121421C>G	NCI-TCGA Cosmic
rs1481780562	p.Val1734Ile	missense variant	-	NC_000014.9:g.31121421C>T	gnomAD
rs752768278	p.Ala1736Thr	missense variant	-	NC_000014.9:g.31121415C>T	ExAC,gnomAD
rs766359449	p.Ala1738Glu	missense variant	-	NC_000014.9:g.31121408G>T	ExAC,gnomAD
rs377640342	p.Gly1739Glu	missense variant	-	NC_000014.9:g.31121405C>T	ESP,ExAC,TOPMed,gnomAD
rs765959865	p.Arg1741Gln	missense variant	-	NC_000014.9:g.31121399C>T	ExAC,TOPMed,gnomAD
rs765959865	p.Arg1741Leu	missense variant	-	NC_000014.9:g.31121399C>A	ExAC,TOPMed,gnomAD
rs571876830	p.Ile1743Phe	missense variant	-	NC_000014.9:g.31121394T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201612618	p.Ile1743Thr	missense variant	-	NC_000014.9:g.31121393A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs571876830	p.Ile1743Leu	missense variant	-	NC_000014.9:g.31121394T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs571876830	p.Ile1743Val	missense variant	-	NC_000014.9:g.31121394T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs760329878	p.Glu1745Gln	missense variant	-	NC_000014.9:g.31121388C>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu1747Lys	missense variant	-	NC_000014.9:g.31119866C>T	NCI-TCGA
rs1346166478	p.Glu1749Gly	missense variant	-	NC_000014.9:g.31119859T>C	gnomAD
COSM6140299	p.Glu1750Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31119857C>G	NCI-TCGA Cosmic
rs1188805106	p.Glu1752Lys	missense variant	-	NC_000014.9:g.31119851C>T	gnomAD
rs1246490387	p.Thr1753Ala	missense variant	-	NC_000014.9:g.31119848T>C	TOPMed
rs763714471	p.Lys1754Arg	missense variant	-	NC_000014.9:g.31119844T>C	ExAC
rs550989302	p.Gly1756Glu	missense variant	-	NC_000014.9:g.31119838C>T	1000Genomes,ExAC,gnomAD
rs767167801	p.Arg1757Cys	missense variant	-	NC_000014.9:g.31119836G>A	ExAC,TOPMed,gnomAD
rs1261151410	p.Arg1757His	missense variant	-	NC_000014.9:g.31119835C>T	gnomAD
rs368911080	p.Arg1758Gln	missense variant	-	NC_000014.9:g.31119832C>T	ESP,ExAC,TOPMed,gnomAD
rs775674085	p.Arg1758Trp	missense variant	-	NC_000014.9:g.31119833G>A	ExAC,TOPMed,gnomAD
rs771464276	p.Asp1762Gly	missense variant	-	NC_000014.9:g.31119820T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp1763Gly	missense variant	-	NC_000014.9:g.31119817T>C	NCI-TCGA
rs763283377	p.Tyr1765Phe	missense variant	-	NC_000014.9:g.31119811T>A	ExAC,gnomAD
rs1292741347	p.Val1766Leu	missense variant	-	NC_000014.9:g.31119809C>A	gnomAD
rs945939580	p.Leu1767Arg	missense variant	-	NC_000014.9:g.31119805A>C	TOPMed
rs1293348086	p.Lys1768Arg	missense variant	-	NC_000014.9:g.31119802T>C	gnomAD
rs770040342	p.Gln1770Arg	missense variant	-	NC_000014.9:g.31119796T>C	ExAC,gnomAD
rs770040342	p.Gln1770Leu	missense variant	-	NC_000014.9:g.31119796T>A	ExAC,gnomAD
rs988270281	p.Leu1774Ser	missense variant	-	NC_000014.9:g.31119784A>G	TOPMed
rs374797182	p.Val1775Ile	missense variant	-	NC_000014.9:g.31119782C>T	ESP,ExAC,TOPMed
COSM5048904	p.Pro1776Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31119779G>A	NCI-TCGA Cosmic
rs1361447512	p.Pro1776Arg	missense variant	-	NC_000014.9:g.31119778G>C	gnomAD
rs747046399	p.Ala1777Val	missense variant	-	NC_000014.9:g.31119775G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp1779His	missense variant	-	NC_000014.9:g.31119770C>G	NCI-TCGA
rs757207097	p.Arg1784His	missense variant	-	NC_000014.9:g.31119754C>T	ExAC,TOPMed,gnomAD
rs1441329585	p.Thr1785Ser	missense variant	-	NC_000014.9:g.31119751G>C	gnomAD
rs1399242201	p.Thr1785Ala	missense variant	-	NC_000014.9:g.31119752T>C	TOPMed
rs1172603022	p.Gln1788Pro	missense variant	-	NC_000014.9:g.31119742T>G	gnomAD
rs753626442	p.Thr1791Ala	missense variant	-	NC_000014.9:g.31119734T>C	ExAC,gnomAD
rs777593934	p.Thr1791Ile	missense variant	-	NC_000014.9:g.31119733G>A	ExAC,gnomAD
rs1381649613	p.Leu1793Ile	missense variant	-	NC_000014.9:g.31119728G>T	TOPMed
NCI-TCGA novel	p.Glu1794Gln	missense variant	-	NC_000014.9:g.31119725C>G	NCI-TCGA
rs755932717	p.Pro1796Ser	missense variant	-	NC_000014.9:g.31119719G>A	ExAC,gnomAD
rs755932717	p.Pro1796Thr	missense variant	-	NC_000014.9:g.31119719G>T	ExAC,gnomAD
rs1254608115	p.Pro1797Thr	missense variant	-	NC_000014.9:g.31119716G>T	gnomAD
rs1452854567	p.Pro1798Leu	missense variant	-	NC_000014.9:g.31119712G>A	TOPMed
NCI-TCGA novel	p.Pro1798GlnPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.31119712G>-	NCI-TCGA
rs1252578961	p.Thr1800Ser	missense variant	-	NC_000014.9:g.31116455G>C	TOPMed
NCI-TCGA novel	p.Thr1800Ala	missense variant	-	NC_000014.9:g.31116456T>C	NCI-TCGA
rs371856031	p.Pro1801Leu	missense variant	-	NC_000014.9:g.31116452G>A	ESP,ExAC,TOPMed,gnomAD
rs762316556	p.Pro1801Ser	missense variant	-	NC_000014.9:g.31116453G>A	ExAC,gnomAD
rs1418855304	p.His1802Pro	missense variant	-	NC_000014.9:g.31116449T>G	TOPMed
rs143401795	p.Leu1805Ile	missense variant	-	NC_000014.9:g.31116441G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs143401795	p.Leu1805Phe	missense variant	-	NC_000014.9:g.31116441G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs762236240	p.Glu1807Gly	missense variant	-	NC_000014.9:g.31116434T>C	ExAC,gnomAD
rs1377195624	p.Glu1808Val	missense variant	-	NC_000014.9:g.31116431T>A	gnomAD
rs1172991793	p.Glu1808Asp	missense variant	-	NC_000014.9:g.31116430T>G	gnomAD
rs1361802612	p.Glu1810Lys	missense variant	-	NC_000014.9:g.31116426C>T	gnomAD
rs1183537408	p.Glu1810Val	missense variant	-	NC_000014.9:g.31116425T>A	gnomAD
rs764349966	p.Cys1811Ser	missense variant	-	NC_000014.9:g.31116422C>G	ExAC,TOPMed,gnomAD
rs764349966	p.Cys1811Tyr	missense variant	-	NC_000014.9:g.31116422C>T	ExAC,TOPMed,gnomAD
rs760922784	p.Thr1812Ile	missense variant	-	NC_000014.9:g.31116419G>A	ExAC,TOPMed,gnomAD
rs547778199	p.Pro1813Leu	missense variant	-	NC_000014.9:g.31116416G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1349024338	p.Ala1818Thr	missense variant	-	NC_000014.9:g.31116402C>T	TOPMed,gnomAD
rs201177803	p.Ala1818Val	missense variant	-	NC_000014.9:g.31116401G>A	ESP,ExAC,TOPMed,gnomAD
rs1240050334	p.Leu1819Phe	missense variant	-	NC_000014.9:g.31116399G>A	gnomAD
rs920879633	p.Thr1820Ser	missense variant	-	NC_000014.9:g.31116395G>C	TOPMed
rs769839072	p.Val1823Ile	missense variant	-	NC_000014.9:g.31116387C>T	ExAC,TOPMed,gnomAD
rs1306775454	p.Thr1824Ile	missense variant	-	NC_000014.9:g.31116383G>A	TOPMed
rs201841460	p.Thr1828Met	missense variant	-	NC_000014.9:g.31116371G>A	ExAC,TOPMed,gnomAD
rs1258259216	p.Arg1830His	missense variant	-	NC_000014.9:g.31116365C>T	TOPMed
rs367653309	p.Arg1830Cys	missense variant	-	NC_000014.9:g.31116366G>A	ESP,ExAC,TOPMed,gnomAD
rs558514626	p.Val1832Ile	missense variant	-	NC_000014.9:g.31116360C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1358437121	p.Glu1833Val	missense variant	-	NC_000014.9:g.31116356T>A	TOPMed,gnomAD
NCI-TCGA novel	p.Leu1834Ser	missense variant	-	NC_000014.9:g.31116353A>G	NCI-TCGA
rs1158079701	p.Pro1835Thr	missense variant	-	NC_000014.9:g.31116351G>T	gnomAD
rs1172913376	p.Leu1836Phe	missense variant	-	NC_000014.9:g.31116348G>A	TOPMed
rs749934681	p.Thr1837Asn	missense variant	-	NC_000014.9:g.31116344G>T	ExAC,gnomAD
rs749934681	p.Thr1837Ile	missense variant	-	NC_000014.9:g.31116344G>A	ExAC,gnomAD
rs1416672366	p.Asn1838Asp	missense variant	-	NC_000014.9:g.31116342T>C	gnomAD
rs1185226874	p.Phe1839Cys	missense variant	-	NC_000014.9:g.31116338A>C	gnomAD
rs1357929450	p.Ser1841Ter	stop gained	-	NC_000014.9:g.31116332G>T	TOPMed
rs200069531	p.Ile1843Val	missense variant	-	NC_000014.9:g.31116327T>C	ESP,ExAC,TOPMed,gnomAD
rs754243031	p.Tyr1845His	missense variant	-	NC_000014.9:g.31116321A>G	ExAC,gnomAD
rs764552977	p.Tyr1846His	missense variant	-	NC_000014.9:g.31116318A>G	ExAC,gnomAD
rs536602982	p.Tyr1846Cys	missense variant	-	NC_000014.9:g.31116317T>C	1000Genomes,ExAC,gnomAD
rs1311766686	p.Lys1849Gln	missense variant	-	NC_000014.9:g.31116309T>G	TOPMed
rs569672320	p.Leu1850Trp	missense variant	-	NC_000014.9:g.31116305A>C	1000Genomes,ExAC,gnomAD
rs759720390	p.Leu1851Phe	missense variant	-	NC_000014.9:g.31116303G>A	ExAC
NCI-TCGA novel	p.Leu1851Ile	missense variant	-	NC_000014.9:g.31116303G>T	NCI-TCGA
NCI-TCGA novel	p.Gly1857Ser	missense variant	-	NC_000014.9:g.31116285C>T	NCI-TCGA
rs774548815	p.Asn1858Ser	missense variant	-	NC_000014.9:g.31116281T>C	ExAC,TOPMed,gnomAD
rs748124591	p.Val1859Ala	missense variant	-	NC_000014.9:g.31116278A>G	ExAC,gnomAD
rs776658432	p.Arg1865Thr	missense variant	-	NC_000014.9:g.31116260C>G	ExAC
rs746711648	p.Arg1866His	missense variant	-	NC_000014.9:g.31116257C>T	ExAC,TOPMed,gnomAD
rs202075322	p.Arg1866Cys	missense variant	-	NC_000014.9:g.31116258G>A	ExAC,TOPMed,gnomAD
rs1393397121	p.Trp1868Arg	missense variant	-	NC_000014.9:g.31116252A>G	gnomAD
rs779827286	p.Pro1870Ser	missense variant	-	NC_000014.9:g.31116246G>A	ExAC
rs778364529	p.Thr1873Lys	missense variant	-	NC_000014.9:g.31116236G>T	ExAC,gnomAD
rs778364529	p.Thr1873Ile	missense variant	-	NC_000014.9:g.31116236G>A	ExAC,gnomAD
rs768477551	p.Met1875Ile	missense variant	-	NC_000014.9:g.31114334C>T	ExAC,gnomAD
rs776710862	p.Met1875Thr	missense variant	-	NC_000014.9:g.31114335A>G	ExAC,TOPMed,gnomAD
rs760580603	p.Arg1877Gly	missense variant	-	NC_000014.9:g.31114330T>C	ExAC,TOPMed,gnomAD
rs1407696068	p.Arg1877Ser	missense variant	-	NC_000014.9:g.31114328T>A	gnomAD
rs1425923991	p.Met1879Val	missense variant	-	NC_000014.9:g.31114324T>C	TOPMed
rs1420974122	p.Met1879Ile	missense variant	-	NC_000014.9:g.31114322C>T	gnomAD
rs370692797	p.Lys1880Met	missense variant	-	NC_000014.9:g.31114320T>A	ESP,ExAC,TOPMed,gnomAD
rs373364026	p.Glu1885Ala	missense variant	-	NC_000014.9:g.31114305T>G	ESP,ExAC,gnomAD
rs61976859	p.Glu1885Lys	missense variant	-	NC_000014.9:g.31114306C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1885Asp	missense variant	-	NC_000014.9:g.31114304T>G	NCI-TCGA
NCI-TCGA novel	p.Asn1888LysPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.31114295_31114296insT	NCI-TCGA
rs1488951528	p.Gly1889Glu	missense variant	-	NC_000014.9:g.31114293C>T	gnomAD
rs1302254350	p.Gly1892Ala	missense variant	-	NC_000014.9:g.31114058C>G	TOPMed
rs764146288	p.Gly1892Cys	missense variant	-	NC_000014.9:g.31114059C>A	ExAC,gnomAD
COSM71036	p.Cys1893Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31114054G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys1893Tyr	missense variant	-	NC_000014.9:g.31114055C>T	NCI-TCGA
rs760501818	p.Ile1896Val	missense variant	-	NC_000014.9:g.31114047T>C	ExAC,TOPMed,gnomAD
rs775461833	p.Ile1896Thr	missense variant	-	NC_000014.9:g.31114046A>G	ExAC,TOPMed,gnomAD
rs1485328261	p.Glu1897Asp	missense variant	-	NC_000014.9:g.31114042C>A	TOPMed,gnomAD
rs1005292372	p.His1898Arg	missense variant	-	NC_000014.9:g.31114040T>C	TOPMed
rs1278079265	p.Leu1903Val	missense variant	-	NC_000014.9:g.31114026G>C	gnomAD
rs1312558302	p.Asp1906Gly	missense variant	-	NC_000014.9:g.31114016T>C	gnomAD
COSM4050466	p.Lys1910Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31114003C>A	NCI-TCGA Cosmic
rs773998104	p.Asp1912Asn	missense variant	-	NC_000014.9:g.31113999C>T	ExAC,gnomAD
rs773998104	p.Asp1912Tyr	missense variant	-	NC_000014.9:g.31113999C>A	ExAC,gnomAD
rs1465602726	p.Ile1914Val	missense variant	-	NC_000014.9:g.31113993T>C	TOPMed
NCI-TCGA novel	p.Ile1914Met	missense variant	-	NC_000014.9:g.31113991T>C	NCI-TCGA
rs999819901	p.Thr1915Ser	missense variant	-	NC_000014.9:g.31113989G>C	gnomAD
rs770555933	p.Gln1918Ter	stop gained	-	NC_000014.9:g.31113981G>A	ExAC,gnomAD
rs199501211	p.Ala1923Thr	missense variant	-	NC_000014.9:g.31113966C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs569402971	p.Arg1927Cys	missense variant	-	NC_000014.9:g.31113954G>A	ExAC,TOPMed,gnomAD
rs1157359636	p.Arg1927His	missense variant	-	NC_000014.9:g.31113953C>T	TOPMed,gnomAD
rs201422760	p.His1928Arg	missense variant	-	NC_000014.9:g.31113950T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1156468578	p.His1928Gln	missense variant	-	NC_000014.9:g.31113949G>C	TOPMed
NCI-TCGA novel	p.Thr1934Ala	missense variant	-	NC_000014.9:g.31113933T>C	NCI-TCGA
rs758673675	p.Ser1937Asn	missense variant	-	NC_000014.9:g.31113923C>T	ExAC,TOPMed,gnomAD
rs758673675	p.Ser1937Thr	missense variant	-	NC_000014.9:g.31113923C>G	ExAC,TOPMed,gnomAD
rs750560486	p.Ile1938Val	missense variant	-	NC_000014.9:g.31113921T>C	ExAC,gnomAD
rs765267189	p.Asn1941Ser	missense variant	-	NC_000014.9:g.31113911T>C	ExAC,gnomAD
NCI-TCGA novel	p.Arg1942Ile	missense variant	-	NC_000014.9:g.31113908C>A	NCI-TCGA
rs904340526	p.Arg1942Lys	missense variant	-	NC_000014.9:g.31113908C>T	TOPMed,gnomAD
rs752589825	p.Cys1944Phe	missense variant	-	NC_000014.9:g.31113902C>A	ExAC,gnomAD
rs1396918524	p.His1957Gln	missense variant	-	NC_000014.9:g.31113470A>C	gnomAD
COSM4420335	p.Thr1959Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31113465G>C	NCI-TCGA Cosmic
rs562158110	p.Thr1959Ile	missense variant	-	NC_000014.9:g.31113465G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1461563701	p.Lys1960Glu	missense variant	-	NC_000014.9:g.31113463T>C	gnomAD
rs1371364897	p.Ser1961Ala	missense variant	-	NC_000014.9:g.31113460A>C	gnomAD
rs1171051644	p.Asn1964Lys	missense variant	-	NC_000014.9:g.31113449G>T	TOPMed
rs1451190682	p.Gln1965His	missense variant	-	NC_000014.9:g.31113446C>A	TOPMed,gnomAD
rs1168238787	p.Gln1965Arg	missense variant	-	NC_000014.9:g.31113447T>C	gnomAD
rs751459067	p.Gly1966Arg	missense variant	-	NC_000014.9:g.31113445C>T	ExAC,gnomAD
rs1192770894	p.Gly1966Glu	missense variant	-	NC_000014.9:g.31113444C>T	gnomAD
COSM1369525	p.Ala1967Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31113442C>T	NCI-TCGA Cosmic
COSM3495668	p.Ser1969Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31113435G>A	NCI-TCGA Cosmic
rs1452232186	p.Thr1970Ile	missense variant	-	NC_000014.9:g.31113432G>A	TOPMed,gnomAD
rs766183572	p.Leu1971Phe	missense variant	-	NC_000014.9:g.31113430G>A	ExAC,gnomAD
rs762748615	p.Ser1973Asn	missense variant	-	NC_000014.9:g.31113423C>T	ExAC,gnomAD
rs930122499	p.Asp1975Gly	missense variant	-	NC_000014.9:g.31113417T>C	TOPMed
rs918361032	p.Ile1976Val	missense variant	-	NC_000014.9:g.31113415T>C	TOPMed
rs772740373	p.Leu1977Val	missense variant	-	NC_000014.9:g.31113412G>C	ExAC,gnomAD
rs764935981	p.Asn1978His	missense variant	-	NC_000014.9:g.31113409T>G	ExAC,gnomAD
rs367742562	p.Thr1980Ile	missense variant	-	NC_000014.9:g.31113402G>A	ESP,ExAC,TOPMed,gnomAD
rs761284384	p.Thr1980Ala	missense variant	-	NC_000014.9:g.31113403T>C	ExAC,gnomAD
rs985525961	p.Pro1984Ser	missense variant	-	NC_000014.9:g.31113391G>A	TOPMed
rs370850256	p.Ala1986Ser	missense variant	-	NC_000014.9:g.31113385C>A	ESP,ExAC,TOPMed,gnomAD
rs776094793	p.Ala1986Val	missense variant	-	NC_000014.9:g.31113384G>A	ExAC,gnomAD
rs376711430	p.Asn1990Ser	missense variant	-	NC_000014.9:g.31113372T>C	ESP,ExAC,TOPMed,gnomAD
rs376711430	p.Asn1990Ile	missense variant	-	NC_000014.9:g.31113372T>A	ESP,ExAC,TOPMed,gnomAD
rs746177248	p.Gly1991Glu	missense variant	-	NC_000014.9:g.31113369C>T	ExAC,gnomAD
rs200609915	p.Gln1992Arg	missense variant	-	NC_000014.9:g.31113366T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371010804	p.Ser1994Phe	missense variant	-	NC_000014.9:g.31113360G>A	ESP,ExAC,gnomAD
rs1379115787	p.Val1997Leu	missense variant	-	NC_000014.9:g.31113352C>G	gnomAD
NCI-TCGA novel	p.Glu1998LysPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.31113349C>-	NCI-TCGA
NCI-TCGA novel	p.Glu1998Gln	missense variant	-	NC_000014.9:g.31113349C>G	NCI-TCGA
rs756137642	p.Arg2005His	missense variant	-	NC_000014.9:g.31113327C>T	ExAC,TOPMed,gnomAD
rs201210477	p.Arg2005Cys	missense variant	-	NC_000014.9:g.31113328G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751510524	p.Leu2007Val	missense variant	-	NC_000014.9:g.31113322G>C	ExAC
rs758190151	p.Tyr2008Cys	missense variant	-	NC_000014.9:g.31113318T>C	ExAC,gnomAD
rs183119059	p.Ile2009Leu	missense variant	-	NC_000014.9:g.31113316T>A	1000Genomes,ExAC,gnomAD
rs1347584814	p.Val2010Ala	missense variant	-	NC_000014.9:g.31113312A>G	gnomAD
rs368837991	p.Ala2011Ser	missense variant	-	NC_000014.9:g.31113310C>A	ESP,ExAC,TOPMed,gnomAD
rs368837991	p.Ala2011Thr	missense variant	-	NC_000014.9:g.31113310C>T	ESP,ExAC,TOPMed,gnomAD
rs377055705	p.Ser2012Gly	missense variant	-	NC_000014.9:g.31113307T>C	ESP,ExAC,TOPMed,gnomAD
rs753504194	p.Pro2014Arg	missense variant	-	NC_000014.9:g.31113300G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser2016Leu	missense variant	-	NC_000014.9:g.31113294G>A	NCI-TCGA
NCI-TCGA novel	p.Ser2016Ter	stop gained	-	NC_000014.9:g.31113294G>C	NCI-TCGA
rs1290337697	p.Ser2016Ala	missense variant	-	NC_000014.9:g.31113295A>C	gnomAD
COSM955256	p.Arg2017Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31113291C>A	NCI-TCGA Cosmic
rs763724166	p.Ile2018Met	missense variant	-	NC_000014.9:g.31113287T>C	ExAC,gnomAD
rs1354851610	p.Gln2020Leu	missense variant	-	NC_000014.9:g.31113282T>A	gnomAD
rs748217626	p.Gly2023Asp	missense variant	-	NC_000014.9:g.31113186C>T	ExAC,TOPMed,gnomAD
rs748217626	p.Gly2023Val	missense variant	-	NC_000014.9:g.31113186C>A	ExAC,TOPMed,gnomAD
rs779911615	p.Asp2024Gly	missense variant	-	NC_000014.9:g.31113183T>C	ExAC,gnomAD
rs758331578	p.Glu2025Gly	missense variant	-	NC_000014.9:g.31113180T>C	ExAC,TOPMed,gnomAD
rs1315794	p.Pro2027Leu	missense variant	-	NC_000014.9:g.31113174G>A	1000Genomes,ExAC,gnomAD
rs1315794	p.Leu2027Pro	missense variant	-	NC_000014.9:g.31113174G>C	UniProt,dbSNP
VAR_067707	p.Leu2027Pro	missense variant	-	NC_000014.9:g.31113174G>C	UniProt
rs1315794	p.Pro2027Arg	missense variant	-	NC_000014.9:g.31113174G>C	1000Genomes,ExAC,gnomAD
VAR_067707	p.Leu2027Pro	Missense	-	-	UniProt
rs778802763	p.Gln2028Glu	missense variant	-	NC_000014.9:g.31113172G>C	ExAC,TOPMed,gnomAD
rs1201934540	p.Gln2028Arg	missense variant	-	NC_000014.9:g.31113171T>C	TOPMed
rs756958009	p.Pro2032Leu	missense variant	-	NC_000014.9:g.31113159G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp2034Asn	missense variant	-	NC_000014.9:g.31113154C>T	NCI-TCGA
rs1160929159	p.Asp2034Gly	missense variant	-	NC_000014.9:g.31113153T>C	TOPMed,gnomAD
rs763773425	p.Thr2037Ile	missense variant	-	NC_000014.9:g.31113144G>A	ExAC,gnomAD
COSM1477526	p.Ile2041Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31113131A>C	NCI-TCGA Cosmic
rs758518381	p.Ile2041LeuPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.31113133T>-	NCI-TCGA,NCI-TCGA Cosmic
rs1369531764	p.Ile2045Val	missense variant	-	NC_000014.9:g.31113121T>C	gnomAD
rs760327911	p.Gln2048Ter	stop gained	-	NC_000014.9:g.31113112G>A	ExAC,gnomAD
rs1371986394	p.Ile2049Thr	missense variant	-	NC_000014.9:g.31113108A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Glu2051Asp	missense variant	-	NC_000014.9:g.31112541T>A	NCI-TCGA
rs1452288299	p.Pro2052Ser	missense variant	-	NC_000014.9:g.31112540G>A	TOPMed,gnomAD
rs1272319871	p.Pro2052Gln	missense variant	-	NC_000014.9:g.31112539G>T	TOPMed,gnomAD
rs574897803	p.Leu2055Val	missense variant	-	NC_000014.9:g.31112531G>C	1000Genomes
rs755807387	p.Ser2057Asn	missense variant	-	NC_000014.9:g.31112524C>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp2062Tyr	missense variant	-	NC_000014.9:g.31112510C>A	NCI-TCGA
rs377187618	p.Leu2067Ile	missense variant	-	NC_000014.9:g.31112495A>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser2069Arg	missense variant	-	NC_000014.9:g.31112487G>T	NCI-TCGA
rs1224105887	p.Phe2073Leu	missense variant	-	NC_000014.9:g.31112475A>C	gnomAD
rs1349981451	p.Ile2075Thr	missense variant	-	NC_000014.9:g.31112470A>G	gnomAD
rs773540655	p.Phe2077Leu	missense variant	-	NC_000014.9:g.31112465A>G	ExAC,gnomAD
rs765481555	p.Glu2078Lys	missense variant	-	NC_000014.9:g.31112462C>T	ExAC,gnomAD
rs776671501	p.Thr2079Ser	missense variant	-	NC_000014.9:g.31112458G>C	ExAC,gnomAD
rs762056004	p.Thr2079Ala	missense variant	-	NC_000014.9:g.31112459T>C	ExAC,TOPMed,gnomAD
rs768798124	p.Gln2081Lys	missense variant	-	NC_000014.9:g.31112453G>T	ExAC,gnomAD
rs367624417	p.Cys2086Arg	missense variant	-	NC_000014.9:g.31112438A>G	ESP,ExAC,TOPMed,gnomAD
rs749145586	p.Ala2091Thr	missense variant	-	NC_000014.9:g.31112423C>T	ExAC,TOPMed,gnomAD
rs764222422	p.Ile2095Val	missense variant	-	NC_000014.9:g.31109594T>C	ExAC,TOPMed,gnomAD
rs1440609351	p.Trp2097Arg	missense variant	-	NC_000014.9:g.31109588A>G	TOPMed
rs978402707	p.Arg2101Ter	stop gained	-	NC_000014.9:g.31109576G>A	TOPMed
rs775411264	p.Arg2101Gln	missense variant	-	NC_000014.9:g.31109575C>T	ExAC,TOPMed,gnomAD
rs368372102	p.Arg2102Cys	missense variant	-	NC_000014.9:g.31109573G>A	ESP,ExAC,TOPMed,gnomAD
rs749271615	p.Arg2102His	missense variant	-	NC_000014.9:g.31109572C>T	ExAC,TOPMed,gnomAD
rs773224017	p.Glu2103Gly	missense variant	-	NC_000014.9:g.31109569T>C	ExAC,TOPMed,gnomAD
rs769714931	p.Val2106Leu	missense variant	-	NC_000014.9:g.31109561C>G	ExAC,gnomAD
rs1458971793	p.Arg2108Ter	stop gained	-	NC_000014.9:g.31109555G>A	gnomAD
rs1412854674	p.Thr2109Met	missense variant	-	NC_000014.9:g.31109551G>A	TOPMed,gnomAD
rs1423238381	p.Thr2112Ile	missense variant	-	NC_000014.9:g.31109542G>A	gnomAD
rs768168750	p.Ser2113Thr	missense variant	-	NC_000014.9:g.31109539C>G	ExAC,gnomAD
rs1183462170	p.Ser2114Thr	missense variant	-	NC_000014.9:g.31109536C>G	gnomAD
rs199747097	p.Val2115Gly	missense variant	-	NC_000014.9:g.31109533A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Val2115Ala	missense variant	-	NC_000014.9:g.31109533A>G	NCI-TCGA
rs779568465	p.Arg2117Gln	missense variant	-	NC_000014.9:g.31109527C>T	ExAC,TOPMed,gnomAD
rs1268288683	p.Asp2118Asn	missense variant	-	NC_000014.9:g.31109525C>T	gnomAD
rs371125720	p.Asp2119Asn	missense variant	-	NC_000014.9:g.31109522C>T	ESP,ExAC,TOPMed,gnomAD
rs1257517134	p.Pro2120Ser	missense variant	-	NC_000014.9:g.31109519G>A	TOPMed
COSM4820827	p.Gly2121Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31109515C>T	NCI-TCGA Cosmic
rs1229351405	p.Phe2123Leu	missense variant	-	NC_000014.9:g.31109508A>T	gnomAD
rs535430244	p.Arg2124Ter	stop gained	-	NC_000014.9:g.31109507G>A	NCI-TCGA,NCI-TCGA Cosmic
rs376151633	p.Arg2124Gln	missense variant	-	NC_000014.9:g.31109506C>T	ESP,TOPMed,gnomAD
rs373214965	p.Val2125Leu	missense variant	-	NC_000014.9:g.31109504C>G	ESP,ExAC,TOPMed,gnomAD
rs373214965	p.Val2125Ile	missense variant	-	NC_000014.9:g.31109504C>T	ESP,ExAC,TOPMed,gnomAD
rs1182846844	p.Arg2127Cys	missense variant	-	NC_000014.9:g.31109498G>A	TOPMed
rs754140005	p.Val2135Ala	missense variant	-	NC_000014.9:g.31109473A>G	ExAC,gnomAD
rs377110842	p.Pro2136Leu	missense variant	-	NC_000014.9:g.31109470G>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Arg2137Cys	missense variant	-	NC_000014.9:g.31109468G>A	NCI-TCGA
NCI-TCGA novel	p.Gly2138Asp	missense variant	-	NC_000014.9:g.31109464C>T	NCI-TCGA
rs867585800	p.Glu2139Lys	missense variant	-	NC_000014.9:g.31109462C>T	gnomAD
rs760778778	p.Met2142Arg	missense variant	-	NC_000014.9:g.31109452A>C	ExAC,gnomAD
rs1186442795	p.Asn2147Ser	missense variant	-	NC_000014.9:g.31109437T>C	gnomAD
rs149608356	p.Met2149Leu	missense variant	-	NC_000014.9:g.31109432T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149608356	p.Met2149Leu	missense variant	-	NC_000014.9:g.31109432T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149608356	p.Met2149Val	missense variant	-	NC_000014.9:g.31109432T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1487523398	p.Gln2150Arg	missense variant	-	NC_000014.9:g.31109428T>C	gnomAD
rs1248274772	p.Ile2151Met	missense variant	-	NC_000014.9:g.31109424T>C	gnomAD
rs1266642927	p.Asp2154His	missense variant	-	NC_000014.9:g.31109417C>G	gnomAD
NCI-TCGA novel	p.Asp2154Asn	missense variant	-	NC_000014.9:g.31109417C>T	NCI-TCGA
rs773349079	p.Arg2155Gln	missense variant	-	NC_000014.9:g.31109413C>T	ExAC,TOPMed,gnomAD
COSM5478674	p.Leu2159Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31109402G>T	NCI-TCGA Cosmic
rs761713038	p.Glu2160Gln	missense variant	-	NC_000014.9:g.31109399C>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu2164Ser	missense variant	-	NC_000014.9:g.31107694A>G	NCI-TCGA
rs1362884918	p.Thr2174Ala	missense variant	-	NC_000014.9:g.31107665T>C	gnomAD
rs1231392317	p.Tyr2178Cys	missense variant	-	NC_000014.9:g.31107652T>C	gnomAD
NCI-TCGA novel	p.Ala2182Thr	missense variant	-	NC_000014.9:g.31107641C>T	NCI-TCGA
rs949226220	p.Glu2184Gly	missense variant	-	NC_000014.9:g.31107634T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Thr2188Ile	missense variant	-	NC_000014.9:g.31107622G>A	NCI-TCGA
rs1409301084	p.Asp2197Gly	missense variant	-	NC_000014.9:g.31107595T>C	gnomAD
rs759747608	p.Asn2198Asp	missense variant	-	NC_000014.9:g.31107593T>C	ExAC,gnomAD
NCI-TCGA novel	p.Pro2200Ser	missense variant	-	NC_000014.9:g.31107587G>A	NCI-TCGA
rs765255463	p.Asp2202Glu	missense variant	-	NC_000014.9:g.31107579A>T	ExAC
NCI-TCGA novel	p.Ser2204Cys	missense variant	-	NC_000014.9:g.31107574G>C	NCI-TCGA
rs776580004	p.Arg2205His	missense variant	-	NC_000014.9:g.31107571C>T	ExAC,gnomAD
rs776580004	p.Arg2205Leu	missense variant	-	NC_000014.9:g.31107571C>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg2205Gly	missense variant	-	NC_000014.9:g.31107572G>C	NCI-TCGA
rs760454073	p.His2206Gln	missense variant	-	NC_000014.9:g.31107567G>C	ExAC,gnomAD
rs555586603	p.Leu2213Met	missense variant	-	NC_000014.9:g.31107235A>T	1000Genomes,ExAC,gnomAD
rs1160742226	p.Pro2215Leu	missense variant	-	NC_000014.9:g.31107228G>A	gnomAD
rs1473239142	p.Pro2216Ser	missense variant	-	NC_000014.9:g.31107226G>A	gnomAD
rs374926613	p.Tyr2218Asp	missense variant	-	NC_000014.9:g.31107220A>C	ESP,ExAC,gnomAD
rs1256535651	p.Leu2226Val	missense variant	-	NC_000014.9:g.31107196G>C	TOPMed,gnomAD
rs1270165072	p.Phe2227Leu	missense variant	-	NC_000014.9:g.31107191G>C	gnomAD
rs566773532	p.Phe2231Leu	missense variant	-	NC_000014.9:g.31107181A>G	1000Genomes,ExAC,gnomAD
rs1355656329	p.Gln2233Arg	missense variant	-	NC_000014.9:g.31107174T>C	gnomAD
rs183440070	p.Asp2234Glu	missense variant	-	NC_000014.9:g.31107170A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs770309354	p.Glu2237Ter	stop gained	-	NC_000014.9:g.31107163C>A	ExAC,TOPMed,gnomAD
rs770309354	p.Glu2237Lys	missense variant	-	NC_000014.9:g.31107163C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu2239Lys	missense variant	-	NC_000014.9:g.31107157C>T	NCI-TCGA
rs748563826	p.Arg2240Lys	missense variant	-	NC_000014.9:g.31107153C>T	ExAC,gnomAD
rs1315441491	p.Ile2241Leu	missense variant	-	NC_000014.9:g.31107151T>G	gnomAD
rs781713220	p.Thr2242Met	missense variant	-	NC_000014.9:g.31107147G>A	ExAC,TOPMed,gnomAD
rs747245700	p.Leu2244Gln	missense variant	-	NC_000014.9:g.31107141A>T	ExAC,TOPMed,gnomAD
COSM1756889	p.His2246Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31107136G>A	NCI-TCGA Cosmic
rs1167819535	p.His2246Asp	missense variant	-	NC_000014.9:g.31107136G>C	TOPMed
rs1353738396	p.Ile2250Thr	missense variant	-	NC_000014.9:g.31107123A>G	TOPMed
rs368302820	p.Leu2252Met	missense variant	-	NC_000014.9:g.31107118A>T	ESP,ExAC,TOPMed,gnomAD
rs1386291117	p.Lys2254Asn	missense variant	-	NC_000014.9:g.31107110T>A	gnomAD
rs758476628	p.Lys2254Arg	missense variant	-	NC_000014.9:g.31107111T>C	ExAC,gnomAD
rs750503446	p.Asn2259Ser	missense variant	-	NC_000014.9:g.31107096T>C	ExAC,gnomAD
NCI-TCGA novel	p.Arg2260Ile	missense variant	-	NC_000014.9:g.31107093C>A	NCI-TCGA
NCI-TCGA novel	p.Pro2265Arg	missense variant	-	NC_000014.9:g.31107078G>C	NCI-TCGA
NCI-TCGA novel	p.Pro2269Thr	missense variant	-	NC_000014.9:g.31107067G>T	NCI-TCGA
NCI-TCGA novel	p.Phe2270Cys	missense variant	-	NC_000014.9:g.31107063A>C	NCI-TCGA
COSM2194769	p.Phe2271LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.31107059A>-	NCI-TCGA Cosmic
rs1250146534	p.Met2274Thr	missense variant	-	NC_000014.9:g.31107051A>G	TOPMed,gnomAD
rs1189376938	p.Met2274Ile	missense variant	-	NC_000014.9:g.31107050C>T	gnomAD
rs1353547619	p.Met2276Val	missense variant	-	NC_000014.9:g.31107046T>C	TOPMed
rs1414085350	p.Gly2277Ser	missense variant	-	NC_000014.9:g.31107043C>T	TOPMed
rs1342013633	p.Asp2278Asn	missense variant	-	NC_000014.9:g.31107040C>T	gnomAD
rs909609152	p.Ile2279Ser	missense variant	-	NC_000014.9:g.31107036A>C	TOPMed,gnomAD
rs763987136	p.Ile2279Val	missense variant	-	NC_000014.9:g.31107037T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser2281Ile	missense variant	-	NC_000014.9:g.31107030C>A	NCI-TCGA
rs1358377776	p.Asn2282Ser	missense variant	-	NC_000014.9:g.31107027T>C	gnomAD
rs1292305778	p.Met2283Arg	missense variant	-	NC_000014.9:g.31107024A>C	gnomAD
NCI-TCGA novel	p.Met2283Ile	missense variant	-	NC_000014.9:g.31107023C>G	NCI-TCGA
rs756018881	p.Ser2284Asn	missense variant	-	NC_000014.9:g.31107021C>T	ExAC,TOPMed,gnomAD
rs1382014349	p.Ser2284Arg	missense variant	-	NC_000014.9:g.31107020A>C	gnomAD
rs752594723	p.Lys2285Glu	missense variant	-	NC_000014.9:g.31107019T>C	ExAC,TOPMed,gnomAD
rs1299405274	p.Ile2287Val	missense variant	-	NC_000014.9:g.31107013T>C	gnomAD
rs767325037	p.Ile2287Thr	missense variant	-	NC_000014.9:g.31107012A>G	ExAC,gnomAD
rs190455305	p.Ile2287Met	missense variant	-	NC_000014.9:g.31107011A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768379626	p.Tyr2288Phe	missense variant	-	NC_000014.9:g.31107009T>A	ExAC,TOPMed,gnomAD
rs766037823	p.Tyr2288Asn	missense variant	-	NC_000014.9:g.31107010A>T	ExAC,gnomAD
rs768379626	p.Tyr2288Cys	missense variant	-	NC_000014.9:g.31107009T>C	ExAC,TOPMed,gnomAD
rs772743407	p.Glu2289Lys	missense variant	-	NC_000014.9:g.31107007C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser2290Ter	stop gained	-	NC_000014.9:g.31107003G>T	NCI-TCGA
rs769387867	p.Arg2291Gln	missense variant	-	NC_000014.9:g.31107000C>T	ExAC
NCI-TCGA novel	p.Arg2294Lys	missense variant	-	NC_000014.9:g.31106991C>T	NCI-TCGA
rs202003389	p.His2297Arg	missense variant	-	NC_000014.9:g.31106982T>C	1000Genomes,ExAC,gnomAD
rs746653088	p.Cys2298Arg	missense variant	-	NC_000014.9:g.31106980A>G	ExAC,gnomAD
rs769144601	p.Ser2301Gly	missense variant	-	NC_000014.9:g.31106971T>C	ExAC,gnomAD
rs747376160	p.Gln2302His	missense variant	-	NC_000014.9:g.31106966C>A	ExAC,TOPMed,gnomAD
rs1278629628	p.Ser2303Phe	missense variant	-	NC_000014.9:g.31106964G>A	TOPMed
rs1245126892	p.Thr2307Lys	missense variant	-	NC_000014.9:g.31106952G>T	gnomAD
rs779631192	p.Glu2309Gly	missense variant	-	NC_000014.9:g.31106946T>C	ExAC,TOPMed,gnomAD
rs757923063	p.Glu2309Asp	missense variant	-	NC_000014.9:g.31106945T>A	ExAC,TOPMed,gnomAD
rs1034119651	p.Gly2310Arg	missense variant	-	NC_000014.9:g.31106944C>G	TOPMed,gnomAD
rs779085058	p.Ser2315Leu	missense variant	-	NC_000014.9:g.31106928G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu2321Asp	missense variant	-	NC_000014.9:g.31106909C>A	NCI-TCGA
rs371025781	p.Asp2322Val	missense variant	-	NC_000014.9:g.31106907T>A	ESP,ExAC,TOPMed,gnomAD
rs754822380	p.Glu2326Lys	missense variant	-	NC_000014.9:g.31106896C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe2327Tyr	missense variant	-	NC_000014.9:g.31106892A>T	NCI-TCGA
rs1001312621	p.Pro2336Ser	missense variant	-	NC_000014.9:g.31106866G>A	TOPMed
rs368701440	p.Pro2336Leu	missense variant	-	NC_000014.9:g.31106865G>A	ESP,ExAC,TOPMed,gnomAD
rs368701440	p.Pro2336Arg	missense variant	-	NC_000014.9:g.31106865G>C	ESP,ExAC,TOPMed,gnomAD
rs564815113	p.Pro2337Leu	missense variant	-	NC_000014.9:g.31106862G>A	ExAC,TOPMed,gnomAD
rs1256585263	p.Leu2344Phe	missense variant	-	NC_000014.9:g.31106840C>G	gnomAD
rs1307991089	p.Glu2347Lys	missense variant	-	NC_000014.9:g.31106833C>T	gnomAD
rs1205523477	p.Val2352Ala	missense variant	-	NC_000014.9:g.31106817A>G	TOPMed,gnomAD
rs764851230	p.Pro2354Ser	missense variant	-	NC_000014.9:g.31106812G>A	ExAC,gnomAD
rs777346880	p.Arg2356Thr	missense variant	-	NC_000014.9:g.31106805C>G	ExAC,gnomAD
COSM1135559	p.Arg2356Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31106805C>T	NCI-TCGA Cosmic
rs761338082	p.Arg2356Gly	missense variant	-	NC_000014.9:g.31106806T>C	ExAC,gnomAD
rs1423344616	p.Ala2357Thr	missense variant	-	NC_000014.9:g.31106803C>T	gnomAD
rs1174468025	p.Glu2362Gln	missense variant	-	NC_000014.9:g.31106788C>G	gnomAD
rs1480822725	p.Ile2363Val	missense variant	-	NC_000014.9:g.31106785T>C	TOPMed,gnomAD
rs769273496	p.Asp2365Val	missense variant	-	NC_000014.9:g.31106778T>A	ExAC,gnomAD
rs760995887	p.Ile2368Val	missense variant	-	NC_000014.9:g.31106770T>C	ExAC
rs1234460251	p.Lys2369Glu	missense variant	-	NC_000014.9:g.31106767T>C	gnomAD
rs772289440	p.Lys2369Arg	missense variant	-	NC_000014.9:g.31106766T>C	ExAC,TOPMed,gnomAD
rs771005504	p.Arg2371Leu	missense variant	-	NC_000014.9:g.31106760C>A	ExAC,TOPMed,gnomAD
rs374624832	p.Arg2371Cys	missense variant	-	NC_000014.9:g.31106761G>A	ESP,ExAC,TOPMed,gnomAD
rs771005504	p.Arg2371His	missense variant	-	NC_000014.9:g.31106760C>T	ExAC,TOPMed,gnomAD
rs1319304506	p.Leu2374Ser	missense variant	-	NC_000014.9:g.31106751A>G	gnomAD
rs749354360	p.Asn2376Asp	missense variant	-	NC_000014.9:g.31106746T>C	ExAC,gnomAD
rs781153492	p.Asn2376Ser	missense variant	-	NC_000014.9:g.31106745T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys2377Ile	missense variant	-	NC_000014.9:g.31106742T>A	NCI-TCGA
rs1052705745	p.Gly2378Val	missense variant	-	NC_000014.9:g.31106739C>A	TOPMed,gnomAD
rs1052705745	p.Gly2378Asp	missense variant	-	NC_000014.9:g.31106739C>T	TOPMed,gnomAD
rs779921443	p.Leu2379Phe	missense variant	-	NC_000014.9:g.31106737G>A	ExAC
rs758069777	p.Ser2380Cys	missense variant	-	NC_000014.9:g.31106733G>C	ExAC,gnomAD
rs1357744983	p.Glu2381Asp	missense variant	-	NC_000014.9:g.31106729T>A	gnomAD
COSM3793651	p.Glu2383Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31106725C>T	NCI-TCGA Cosmic
rs1465069503	p.Val2392Glu	missense variant	-	NC_000014.9:g.31106697A>T	TOPMed
rs750093484	p.Asn2395Ser	missense variant	-	NC_000014.9:g.31106688T>C	ExAC,gnomAD
rs764975645	p.Pro2396Ser	missense variant	-	NC_000014.9:g.31106686G>A	ExAC,gnomAD
rs764975645	p.Pro2396Thr	missense variant	-	NC_000014.9:g.31106686G>T	ExAC,gnomAD
rs764975645	p.Pro2396Ala	missense variant	-	NC_000014.9:g.31106686G>C	ExAC,gnomAD
rs200409299	p.Pro2396Leu	missense variant	-	NC_000014.9:g.31106685G>A	ESP,ExAC,TOPMed,gnomAD
rs200409299	p.Pro2396Gln	missense variant	-	NC_000014.9:g.31106685G>T	ESP,ExAC,TOPMed,gnomAD
rs1471601477	p.Gly2398Val	missense variant	-	NC_000014.9:g.31106679C>A	gnomAD
rs1341486859	p.Ser2399Cys	missense variant	-	NC_000014.9:g.31106676G>C	gnomAD
COSM955253	p.Leu2403Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31106665G>A	NCI-TCGA Cosmic
rs373624502	p.Ser2404Gly	missense variant	-	NC_000014.9:g.31106662T>C	ESP,ExAC,gnomAD
rs1472359837	p.Ile2405Val	missense variant	-	NC_000014.9:g.31106659T>C	gnomAD
rs1300782583	p.Ser2417Phe	missense variant	-	NC_000014.9:g.31105645G>A	gnomAD
COSM416719	p.Ser2418Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.31105642G>C	NCI-TCGA Cosmic
rs537769002	p.Arg2419Lys	missense variant	-	NC_000014.9:g.31105639C>T	1000Genomes,ExAC,gnomAD
rs77698356	p.Phe2423Leu	missense variant	-	NC_000014.9:g.31105626A>C	ExAC,gnomAD
rs1304908510	p.Val2426Leu	missense variant	-	NC_000014.9:g.31105619C>A	gnomAD
rs377639423	p.Asp2427Asn	missense variant	-	NC_000014.9:g.31105616C>T	ESP,ExAC,gnomAD
rs1389355034	p.Leu2428Phe	missense variant	-	NC_000014.9:g.31105613G>A	TOPMed
COSM1300560	p.Ser2431Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31105604T>A	NCI-TCGA Cosmic
rs1305951853	p.Ser2431Gly	missense variant	-	NC_000014.9:g.31105604T>C	TOPMed,gnomAD
rs1190280951	p.Ile2437Val	missense variant	-	NC_000014.9:g.31105473T>C	TOPMed
rs752137954	p.Met2439Val	missense variant	-	NC_000014.9:g.31105467T>C	ExAC,gnomAD
rs756801071	p.Asp2440Glu	missense variant	-	NC_000014.9:g.31105462A>C	ExAC,TOPMed,gnomAD
rs1477670491	p.Val2446Met	missense variant	-	NC_000014.9:g.31105446C>T	TOPMed
rs555304505	p.Asp2447Tyr	missense variant	-	NC_000014.9:g.31105443C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs555304505	p.Asp2447Asn	missense variant	-	NC_000014.9:g.31105443C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs377428994	p.Met2449Ile	missense variant	-	NC_000014.9:g.31105435C>T	ESP,ExAC,gnomAD
rs763236550	p.Cys2453Tyr	missense variant	-	NC_000014.9:g.31105424C>T	ExAC,gnomAD
rs1021004563	p.His2455Tyr	missense variant	-	NC_000014.9:g.31105419G>A	gnomAD
rs750708787	p.Thr2456Met	missense variant	-	NC_000014.9:g.31105415G>A	ExAC,TOPMed,gnomAD
rs1198988436	p.Ile2458Leu	missense variant	-	NC_000014.9:g.31105410T>G	gnomAD
rs1462822489	p.Gln2459Arg	missense variant	-	NC_000014.9:g.31105406T>C	gnomAD
NCI-TCGA novel	p.Gln2459Lys	missense variant	-	NC_000014.9:g.31105407G>T	NCI-TCGA
rs761974972	p.Asp2467Gly	missense variant	-	NC_000014.9:g.31103066T>C	ExAC,gnomAD
rs1361285097	p.Lys2471Asn	missense variant	-	NC_000014.9:g.31103053T>G	gnomAD
COSM3793650	p.Pro2474Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31103046G>C	NCI-TCGA Cosmic
rs111683057	p.Pro2474Leu	missense variant	-	NC_000014.9:g.31103045G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1346408985	p.Met2475Val	missense variant	-	NC_000014.9:g.31103043T>C	TOPMed
rs764095323	p.Glu2476Ala	missense variant	-	NC_000014.9:g.31103039T>G	ExAC,gnomAD
rs369375532	p.His2483Arg	missense variant	-	NC_000014.9:g.31103018T>C	ESP,ExAC,gnomAD
rs374962546	p.Gln2487His	missense variant	-	NC_000014.9:g.31103005T>G	ESP,ExAC,TOPMed,gnomAD
rs1305091476	p.Met2488Val	missense variant	-	NC_000014.9:g.31103004T>C	TOPMed
rs772909298	p.Ile2489Met	missense variant	-	NC_000014.9:g.31102999A>C	ExAC,gnomAD
rs762893405	p.Ile2489Val	missense variant	-	NC_000014.9:g.31103001T>C	ExAC,gnomAD
COSM955252	p.Leu2490Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31102998G>T	NCI-TCGA Cosmic
rs769580685	p.Ala2499Pro	missense variant	-	NC_000014.9:g.31102971C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala2500Thr	missense variant	-	NC_000014.9:g.31102968C>T	NCI-TCGA
rs1451047557	p.Ile2503Val	missense variant	-	NC_000014.9:g.31102959T>C	gnomAD
rs1266591510	p.Ile2504Thr	missense variant	-	NC_000014.9:g.31102955A>G	gnomAD
COSM257097	p.Asn2505Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31102951A>C	NCI-TCGA Cosmic
COSM5031925	p.Tyr2506His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31102950A>G	NCI-TCGA Cosmic
rs780826179	p.Thr2507Ala	missense variant	-	NC_000014.9:g.31102947T>C	ExAC,gnomAD
rs368406709	p.Glu2508Asp	missense variant	-	NC_000014.9:g.31102942T>A	ESP,ExAC,gnomAD
rs964793346	p.Arg2515His	missense variant	-	NC_000014.9:g.31102922C>T	TOPMed,gnomAD
rs1290338946	p.Ser2517Gly	missense variant	-	NC_000014.9:g.31102917T>C	TOPMed
rs776204796	p.Pro2518Ser	missense variant	-	NC_000014.9:g.31101323G>A	ExAC,gnomAD
rs1195967938	p.Gly2519Val	missense variant	-	NC_000014.9:g.31101319C>A	gnomAD
rs1478104798	p.Val2524Leu	missense variant	-	NC_000014.9:g.31101305C>A	gnomAD
rs999322208	p.Arg2525Ser	missense variant	-	NC_000014.9:g.31101300C>A	TOPMed,gnomAD
rs775013458	p.Leu2527Phe	missense variant	-	NC_000014.9:g.31101294T>A	ExAC,gnomAD
rs1448842454	p.Gly2551Ala	missense variant	-	NC_000014.9:g.31101223C>G	TOPMed
COSM4050459	p.Leu2553Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31101218G>C	NCI-TCGA Cosmic
rs756376986	p.Ala2554Val	missense variant	-	NC_000014.9:g.31101214G>A	ExAC,gnomAD
rs756376986	p.Ala2554Gly	missense variant	-	NC_000014.9:g.31101214G>C	ExAC,gnomAD
rs979136541	p.Asn2555Asp	missense variant	-	NC_000014.9:g.31101212T>C	TOPMed,gnomAD
rs1176514454	p.Leu2556Val	missense variant	-	NC_000014.9:g.31101209G>C	gnomAD
rs1260770160	p.Arg2564His	missense variant	-	NC_000014.9:g.31101184C>T	gnomAD
rs767715938	p.Arg2564Cys	missense variant	-	NC_000014.9:g.31101185G>A	ExAC,TOPMed,gnomAD
rs1285500280	p.Val2566Ile	missense variant	-	NC_000014.9:g.31101067C>T	gnomAD
rs748381893	p.Asp2567Asn	missense variant	-	NC_000014.9:g.31101064C>T	ExAC,gnomAD
rs1281428932	p.Thr2569Ile	missense variant	-	NC_000014.9:g.31101057G>A	TOPMed,gnomAD
rs781556696	p.Thr2569Ala	missense variant	-	NC_000014.9:g.31101058T>C	ExAC,gnomAD
rs755070818	p.Ala2571Val	missense variant	-	NC_000014.9:g.31101051G>A	ExAC,gnomAD
rs1364592881	p.Ser2572Asn	missense variant	-	NC_000014.9:g.31101048C>T	gnomAD
rs751636123	p.Ser2572Gly	missense variant	-	NC_000014.9:g.31101049T>C	ExAC,TOPMed,gnomAD
rs1274784536	p.His2581Arg	missense variant	-	NC_000014.9:g.31101021T>C	TOPMed
rs753727227	p.Glu2587Asp	missense variant	-	NC_000014.9:g.31101002T>G	ExAC,gnomAD
rs752414874	p.Glu2591Gln	missense variant	-	NC_000014.9:g.31100992C>G	ExAC,TOPMed,gnomAD
rs752414874	p.Glu2591Lys	missense variant	-	NC_000014.9:g.31100992C>T	ExAC,TOPMed,gnomAD
rs1432657359	p.Glu2591Val	missense variant	-	NC_000014.9:g.31100991T>A	TOPMed,gnomAD
rs767188827	p.Met2594Leu	missense variant	-	NC_000014.9:g.31100983T>A	ExAC,TOPMed,gnomAD
rs993454264	p.Glu2596Ala	missense variant	-	NC_000014.9:g.31100976T>G	TOPMed,gnomAD
COSM6140302	p.Arg2597Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31100974G>A	NCI-TCGA Cosmic
rs1243235052	p.Met2603Ile	missense variant	-	NC_000014.9:g.31100954C>T	gnomAD
rs888537319	p.Met2603Val	missense variant	-	NC_000014.9:g.31100956T>C	gnomAD
rs759019571	p.Gly2606Ser	missense variant	-	NC_000014.9:g.31100947C>T	ExAC,gnomAD
NCI-TCGA novel	p.Asn2610Ile	missense variant	-	NC_000014.9:g.31100934T>A	NCI-TCGA

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004842	ubiquitin-protein transferase activity	IEA
GO:0005515	protein binding	IPI
GO:0046872	metal ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0003170	heart valve development	ISS
GO:0003281	ventricular septum development	ISS
GO:0035904	aorta development	ISS
GO:0048856	anatomical structure development	IBA
GO:0070534	protein K63-linked ubiquitination	IBA

GO:Cellular Component

GO ID	GO Term	Evidence

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1280218	Adaptive Immune System	TAS
R-HSA-168256	Immune System	TAS
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation	TAS
R-HSA-983169	Class I MHC mediated antigen processing & presentation	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015647	2,3,4,5-Tetrahydro-7,8-dihydroxy-1-phenyl-1H-3-benzazepine	2,3,4,5-Tetrahydro-7,8-dihydroxy-1-phenyl-1H-3-benzazepine results in increased expression of HECTD1 protein	25852303
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene results in decreased expression of HECTD1 mRNA	20406850
C019499	2-nitrofluorene	2-nitrofluorene results in increased expression of HECTD1 mRNA	22484513
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of HECTD1 mRNA	30723492
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of HECTD1 mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of HECTD1 mRNA	19150397
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in decreased expression of HECTD1 mRNA	22485181
C496492	abrine	abrine results in decreased expression of HECTD1 mRNA	31054353
D020106	Acrylamide	Acrylamide results in increased expression of HECTD1 mRNA	28959563
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of HECTD1 mRNA	24449571
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of HECTD1 mRNA	20106945; 21632981;
C006780	bisphenol A	bisphenol A affects the expression of HECTD1 mRNA	21786754
C006780	bisphenol A	bisphenol A results in decreased methylation of HECTD1 intron	30906313
C006780	bisphenol A	bisphenol A results in increased expression of HECTD1 mRNA	29275510
C006780	bisphenol A	bisphenol A results in decreased expression of HECTD1 mRNA	21932408
C006780	bisphenol A	bisphenol A results in increased expression of HECTD1 mRNA	25181051; 30816183;
C013418	bromfenacoum	bromfenacoum results in decreased expression of HECTD1 protein	28903499
D002065	Buspirone	Buspirone results in increased expression of HECTD1 mRNA	24136188
D002737	Chloroprene	Chloroprene results in increased expression of HECTD1 mRNA	23125180
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of HECTD1 mRNA	19549813
C093628	cyproconazole	cyproconazole results in decreased expression of HECTD1 mRNA	22334560
C093628	cyproconazole	cyproconazole results in increased expression of HECTD1 mRNA	22045034
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of HECTD1 mRNA]	27941970
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of HECTD1 mRNA	21318169
D004147	Dioxins	Dioxins affects the expression of HECTD1 mRNA	20463971
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of HECTD1 mRNA	27188386
C109476	epoxiconazole	epoxiconazole results in decreased expression of HECTD1 mRNA	22334560
D000431	Ethanol	Ethanol affects the splicing of HECTD1 mRNA	30319688
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of HECTD1 mRNA	17942748
D005038	Ethylnitrosourea	Ethylnitrosourea results in increased mutagenesis of HECTD1 gene	15755804
D011345	Fenofibrate	Fenofibrate results in increased expression of HECTD1 mRNA	21318169
D011345	Fenofibrate	[PPARA protein affects the susceptibility to Fenofibrate] which affects the expression of HECTD1 mRNA	21318169
D018120	Finasteride	Finasteride results in increased expression of HECTD1 mRNA	24136188
C001277	geldanamycin	geldanamycin results in increased expression of HECTD1 mRNA	26705709
D005897	Glafenine	Glafenine results in decreased expression of HECTD1 mRNA	24136188
C409722	hexaconazole	hexaconazole results in increased expression of HECTD1 mRNA	22045034
C544151	jinfukang	jinfukang results in decreased expression of HECTD1 mRNA	27392435
D058185	Magnetite Nanoparticles	[Succimer co-treated with Magnetite Nanoparticles] results in increased expression of HECTD1 mRNA	26378955
D058185	Magnetite Nanoparticles	[Succimer co-treated with Magnetite Nanoparticles] results in decreased expression of HECTD1 mRNA	26378955
D008627	Mercuric Chloride	Mercuric Chloride results in decreased expression of HECTD1 mRNA	27188386
D008701	Methapyrilene	Methapyrilene results in decreased expression of HECTD1 mRNA	30467583
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of HECTD1 mRNA	28001369
D008777	Methyltestosterone	Methyltestosterone results in decreased expression of HECTD1 mRNA	29191790
C583365	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide results in decreased expression of HECTD1 mRNA	29244179
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in decreased expression of HECTD1 mRNA	25729387
D010100	Oxygen	Oxygen deficiency results in increased expression of HECTD1 mRNA	22629407
D010100	Oxygen	Oxygen inhibits the reaction [Oxygen deficiency results in increased expression of HECTD1 mRNA]	22629407
D010634	Phenobarbital	Phenobarbital results in decreased expression of HECTD1 mRNA	23091169
C006253	pirinixic acid	pirinixic acid results in increased expression of HECTD1 mRNA	18301758; 23811191;
D010936	Plant Extracts	Plant Extracts results in increased expression of HECTD1 mRNA	23557933
C045950	propiconazole	propiconazole results in decreased expression of HECTD1 mRNA	21278054; 22334560;
D011794	Quercetin	Quercetin affects the expression of HECTD1 mRNA	18178720
D012715	Sesame Oil	Sesame Oil results in increased expression of HECTD1 mRNA	29191790
C009277	sodium arsenate	sodium arsenate results in increased expression of HECTD1 mRNA	23922661
C009277	sodium arsenate	sodium arsenate results in decreased expression of HECTD1 mRNA	21795629
C009277	sodium arsenate	sodium arsenate results in increased expression of HECTD1 mRNA	21795629
D004113	Succimer	[Succimer co-treated with Magnetite Nanoparticles] results in increased expression of HECTD1 mRNA	26378955
D004113	Succimer	[Succimer co-treated with Magnetite Nanoparticles] results in decreased expression of HECTD1 mRNA	26378955
D000077210	Sunitinib	Sunitinib results in increased expression of HECTD1 mRNA	31533062
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of HECTD1 mRNA	26377647
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of HECTD1 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of HECTD1 mRNA	21215274
C011126	tetraiodothyroacetic acid	tetraiodothyroacetic acid results in increased expression of HECTD1 mRNA	29458080
D019284	Thapsigargin	Thapsigargin results in increased expression of HECTD1 protein	24648495
D013849	Thimerosal	Thimerosal results in decreased expression of HECTD1 mRNA	27188386
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in decreased expression of HECTD1 mRNA	25729387
D019772	Topotecan	Topotecan results in decreased expression of HECTD1 mRNA	25729387
C483909	torcetrapib	torcetrapib results in increased expression of HECTD1 mRNA	23228038
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of HECTD1 mRNA	27188386
C012589	trichostatin A	trichostatin A affects the expression of HECTD1 mRNA	28542535
C012589	trichostatin A	trichostatin A results in decreased expression of HECTD1 mRNA	26272509
D000077288	Troglitazone	Troglitazone results in decreased expression of HECTD1 mRNA	28973697
D014414	Tungsten	Tungsten results in decreased expression of HECTD1 mRNA	30912803
D014635	Valproic Acid	Valproic Acid results in decreased expression of HECTD1 mRNA	23179753; 27188386;
D014635	Valproic Acid	Valproic Acid results in increased methylation of HECTD1 gene	29154799
D014635	Valproic Acid	Valproic Acid affects the splicing of HECTD1 mRNA	29427782
C025643	vinclozolin	vinclozolin affects the expression of HECTD1 mRNA	19015723
D000077337	Vorinostat	Vorinostat results in decreased expression of HECTD1 mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0040	ANK repeat
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0808	Transferase
KW-0833	Ubl conjugation pathway

Interpro

InterPro ID	InterPro Term
IPR002110	Ankyrin_rpt
IPR020683	Ankyrin_rpt-contain_dom
IPR036770	Ankyrin_rpt-contain_sf
IPR011989	ARM-like
IPR016024	ARM-type_fold
IPR041200	FKBP3_BTHB
IPR008979	Galactose-bd-like_sf
IPR000569	HECT_dom
IPR035983	Hect_E3_ubiquitin_ligase
IPR010606	Mib_Herc2
IPR037252	Mib_Herc2_sf
IPR012919	SUN_dom

PROSITE

PROSITE ID	PROSITE Term
PS50297	ANK_REP_REGION
PS50088	ANK_REPEAT
PS50237	HECT
PS51416	MIB_HERC2

Pfam

Pfam ID	Pfam Term
PF18410	BTHB
PF00632	HECT
PF06701	MIB_HERC2
PF07738	Sad1_UNC

Gene: HECTD1

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

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