CleftGeneDB-Search

Gene: TBC1D32

Basic information

Tag	Content
Uniprot ID	Q96NH3; Q5SZD6; Q5SZM6; Q6ZMY4; Q6ZUR7; Q8NB47;
Entrez ID	221322
Genbank protein ID	BAD18591.1; BAB70925.1; BAC03694.1; BAC86152.1;
Genbank nucleotide ID	XM_017010398.1; NM_152730.5; XM_017010397.1; XM_005266861.2; XM_017010401.1;
Ensembl protein ID	ENSP00000428839; ENSP00000275159; ENSP00000381270;
Ensembl nucleotide ID	ENSG00000146350
Gene name	Protein broad-minded
Gene symbol	TBC1D32
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Required for high-level Shh responses in the developing neural tube. Together with CDK20, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in response to Shh signaling (By similarity).
Sequence	MAHFSSEDQA MLQAMLRRLF QSVKEKITGA PSLECAEEIL LHLEETDENF HNYEFVKYLR 60 QHIGNTLGSM IEEEMEKCTS DRNQGEECGY DTVVQQVTKR TQESKEYKEM MHYLKNIMIA 120 VVESMINKFE EDETRNQERQ KKIQKEKSHS YRTDNCSDSD SSLNQSYKFC QGKLQLILDQ 180 LDPGQPKEVR YEALQTLCSA PPSDVLNCEN WTTLCEKLTV SLSDPDPVFS DRILKFCAQT 240 FLLSPLHMTK EIYTSLAKYL ESYFLSRENH IPTLSAGVDI TNPNMTRLLK KVRLLNEYQK 300 EAPSFWIRHP EKYMEEIVES TLSLLTVKHN QSHVVSQKIL DPIYFFALVD TKAVWFKKWM 360 HAHYSRTTVL RLLETKYKSL VTTAIQQCVQ YFEMCKTRKA DETLGHSKHC RNKQKTFYYL 420 GQELQYIYFI HSLCLLGRLL IYKQGRKLFP IKLKNKKGLV SLIDLLVLFT QLIYYSPSCP 480 KMTSAAHSEN YSPASMVTEV LWILSDQKEC AVECLYNNIV IETLLQPIHN LMKGNEASPN 540 CSETALIHIA GILARIASVE EGLILLLYGA NMNSSEESPT GAHIIAQFSK KLLDEDISIF 600 SGSEMLPVVK GAFISVCRHI YSTCEGLQVL ITYNLHESIA KAWKKTSLLS ERIPTPVEGS 660 DSVSSVSQES QNIMAWEDNL LDDLLHFAAT PKGLLLLQRT GAINECVTFI FNRYAKKLQV 720 SRHKKFGYGV LVTRVASTAA GGIALKKSGF INELITELWS NLEYGRDDVR VTHPRTTPVD 780 PIDRSCQKSF LALVNLLSYP AIYELVRNQD LPNKTEYSLR EVPTCVIDII DRLIILNSEA 840 KIRSLFNYEQ SHIFGLRDFI IDGLSVERNH VLVRINLVGG PLERILPPRL LEKSDNPYPW 900 PMFSSYPLPN CYLSDITRNA GIKQDNDLDK LLLCLKISDK QTEWIENCQR QFCKMMKAKP 960 DIISGEALIE LLEKFVLHLT ESPSECYFPS VEYTATDANV KNESLSSVQQ LGIKMTVRYG 1020 KFLSLLKDGA ENDLTWVLKH CERFLKQQQT SIKSSLLCLQ GNYAGHDWFV SSLFMIMLGD 1080 KEKTFQFLHQ FSRLLTSAFL WLPRLHISSY LPNDTVESGI HPVYFCSTHY IEMLLKAELP 1140 LVFSAFHMSG FAPSQICLQW ITQCFWNYLD WIEICHYIAT CVFLGPDYQV YICIAVFKHL 1200 QQDILQHTQT QDLQVFLKEE ALHGFRVSDY FEYMEILEQN YRTVLLRDMR NIRLQST 1257

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	TBC1D32		F1PS18		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	TBC1D32		A0A452FLC7		Capra hircus	Prediction	More>>
1:1 ortholog	TBC1D32	221322	Q96NH3		Homo sapiens	Prediction	More>>
1:1 ortholog	Tbc1d32	544696	Q3URV1	CPO	Mus musculus	Publication	More>>
1:1 ortholog	TBC1D32	472114	A0A2I3TUU2		Pan troglodytes	Prediction	More>>
1:1 ortholog	TBC1D32	100156680	F1SF42		Sus scrofa	Prediction	More>>
1:1 ortholog	Tbc1d32		D4A050		Rattus norvegicus	Prediction	More>>
1:1 ortholog	tbc1d32	566474	Q5RHR6		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
NCI-TCGA novel	p.Ala2Thr	missense variant	-	NC_000006.12:g.121334427C>T	NCI-TCGA
rs1404808287	p.His3Arg	missense variant	-	NC_000006.12:g.121334423T>C	TOPMed,gnomAD
rs767530791	p.His3Tyr	missense variant	-	NC_000006.12:g.121334424G>A	ExAC,gnomAD
rs1404808287	p.His3Pro	missense variant	-	NC_000006.12:g.121334423T>G	TOPMed,gnomAD
COSM3857949	p.Ser5Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121334417G>T	NCI-TCGA Cosmic
rs774493032	p.Ser6Arg	missense variant	-	NC_000006.12:g.121334413G>T	ExAC
rs759797631	p.Ser6Thr	missense variant	-	NC_000006.12:g.121334414C>G	ExAC,TOPMed,gnomAD
rs372012861	p.Glu7Lys	missense variant	-	NC_000006.12:g.121334412C>T	ESP,TOPMed,gnomAD
rs372012861	p.Glu7Lys	missense variant	-	NC_000006.12:g.121334412C>T	NCI-TCGA
rs1161966712	p.Gln9His	missense variant	-	NC_000006.12:g.121334404C>G	gnomAD
NCI-TCGA novel	p.Gln9Lys	missense variant	-	NC_000006.12:g.121334406G>T	NCI-TCGA
rs1329698911	p.Ala10Glu	missense variant	-	NC_000006.12:g.121334402G>T	TOPMed
rs747960848	p.Met11Leu	missense variant	-	NC_000006.12:g.121334400T>A	ExAC,TOPMed,gnomAD
rs776670394	p.Leu12Pro	missense variant	-	NC_000006.12:g.121334396A>G	ExAC,gnomAD
rs1186483069	p.Ala14Thr	missense variant	-	NC_000006.12:g.121334391C>T	gnomAD
rs746983995	p.Met15Val	missense variant	-	NC_000006.12:g.121334388T>C	ExAC,gnomAD
rs990660797	p.Leu19Ser	missense variant	-	NC_000006.12:g.121334375A>G	TOPMed,gnomAD
rs757906194	p.Gln21Arg	missense variant	-	NC_000006.12:g.121334369T>C	ExAC,TOPMed,gnomAD
COSM1072787	p.Lys24Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121334359C>A	NCI-TCGA Cosmic
rs1051968341	p.Ile27Met	missense variant	-	NC_000006.12:g.121334350G>C	TOPMed,gnomAD
rs1283608621	p.Thr28Lys	missense variant	-	NC_000006.12:g.121334348G>T	gnomAD
rs1283608621	p.Thr28Met	missense variant	-	NC_000006.12:g.121334348G>A	gnomAD
COSM4760759	p.Ala30Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121334342G>A	NCI-TCGA Cosmic
rs778438539	p.Ser32Phe	missense variant	-	NC_000006.12:g.121334336G>A	ExAC,gnomAD
rs1389814933	p.Leu33Val	missense variant	-	NC_000006.12:g.121334334G>C	gnomAD
rs1316433693	p.Leu33Pro	missense variant	-	NC_000006.12:g.121334333A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Cys35Gly	missense variant	-	NC_000006.12:g.121334328A>C	NCI-TCGA
COSM1072786	p.Glu37Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121334322C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu37Asp	missense variant	-	NC_000006.12:g.121334320T>G	NCI-TCGA
COSM1072785	p.Glu38Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121334317C>A	NCI-TCGA Cosmic
rs1323209264	p.Ile39Leu	missense variant	-	NC_000006.12:g.121334316T>G	TOPMed,gnomAD
rs1404093356	p.Ile39Thr	missense variant	-	NC_000006.12:g.121334315A>G	TOPMed,gnomAD
rs367896649	p.Leu40Ile	missense variant	-	NC_000006.12:g.121334313G>T	ESP,TOPMed,gnomAD
COSM279441	p.Glu48Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121334289C>A	NCI-TCGA Cosmic
rs754218862	p.Glu48Asp	missense variant	-	NC_000006.12:g.121334287T>G	ExAC,gnomAD
rs1020641078	p.Asn49Ser	missense variant	-	NC_000006.12:g.121334285T>C	gnomAD
NCI-TCGA novel	p.Tyr53Phe	missense variant	-	NC_000006.12:g.121321792T>A	NCI-TCGA
rs1230847939	p.Glu54Lys	missense variant	-	NC_000006.12:g.121321790C>T	TOPMed
rs376165898	p.Val56Met	missense variant	-	NC_000006.12:g.121321784C>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Tyr58Asp	missense variant	-	NC_000006.12:g.121321778A>C	NCI-TCGA
rs1274018014	p.Leu59Ile	missense variant	-	NC_000006.12:g.121321775G>T	TOPMed
rs778103033	p.Leu59Pro	missense variant	-	NC_000006.12:g.121321774A>G	ExAC,TOPMed,gnomAD
COSM3857946	p.Arg60Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121321771C>T	NCI-TCGA Cosmic
rs1424190891	p.Arg60Met	missense variant	-	NC_000006.12:g.121321771C>A	gnomAD
rs1249728359	p.His62Tyr	missense variant	-	NC_000006.12:g.121321766G>A	TOPMed,gnomAD
rs1461709684	p.His62Arg	missense variant	-	NC_000006.12:g.121321765T>C	TOPMed
rs781554056	p.Gly64Val	missense variant	-	NC_000006.12:g.121321759C>A	ExAC,TOPMed,gnomAD
rs753188911	p.Gly64Ser	missense variant	-	NC_000006.12:g.121321760C>T	ExAC,gnomAD
rs781554056	p.Gly64Asp	missense variant	-	NC_000006.12:g.121321759C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly64Cys	missense variant	-	NC_000006.12:g.121321760C>A	NCI-TCGA
rs751613942	p.Asn65Ser	missense variant	-	NC_000006.12:g.121321756T>C	ExAC,gnomAD
rs999579644	p.Thr66Ser	missense variant	-	NC_000006.12:g.121321753G>C	TOPMed
rs1442261150	p.Leu67Trp	missense variant	-	NC_000006.12:g.121321750A>C	gnomAD
rs1279775428	p.Gly68Ser	missense variant	-	NC_000006.12:g.121321748C>T	gnomAD
NCI-TCGA novel	p.Gly68Val	missense variant	-	NC_000006.12:g.121321747C>A	NCI-TCGA
rs535817936	p.Met70Val	missense variant	-	NC_000006.12:g.121321742T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs535817936	p.Met70Leu	missense variant	-	NC_000006.12:g.121321742T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1412207789	p.Ile71Thr	missense variant	-	NC_000006.12:g.121321738A>G	TOPMed
rs763925354	p.Glu73Lys	missense variant	-	NC_000006.12:g.121321733C>T	ExAC,TOPMed,gnomAD
rs566951967	p.Glu74Gly	missense variant	-	NC_000006.12:g.121321729T>C	1000Genomes,ExAC,gnomAD
rs775461845	p.Met75Thr	missense variant	-	NC_000006.12:g.121321726A>G	ExAC,gnomAD
rs771929833	p.Glu76Lys	missense variant	-	NC_000006.12:g.121321724C>T	ExAC,gnomAD
rs771929833	p.Glu76Lys	missense variant	-	NC_000006.12:g.121321724C>T	NCI-TCGA,NCI-TCGA Cosmic
rs759563147	p.Lys77Asn	missense variant	-	NC_000006.12:g.121321719T>G	ExAC
rs770492344	p.Cys78Tyr	missense variant	-	NC_000006.12:g.121321717C>T	ExAC,gnomAD
rs376405397	p.Cys78Arg	missense variant	-	NC_000006.12:g.121321718A>G	ESP,ExAC,TOPMed,gnomAD
COSM2150425	p.Thr79Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121321715T>C	NCI-TCGA Cosmic
rs1470578568	p.Ser80Cys	missense variant	-	NC_000006.12:g.121321711G>C	TOPMed
rs1409608687	p.Asp81Gly	missense variant	-	NC_000006.12:g.121321708T>C	gnomAD
rs1159860744	p.Asp81Glu	missense variant	-	NC_000006.12:g.121321707A>C	gnomAD
rs1470927939	p.Asp81His	missense variant	-	NC_000006.12:g.121321709C>G	gnomAD
rs777414033	p.Arg82Trp	missense variant	-	NC_000006.12:g.121321706G>A	ExAC,TOPMed,gnomAD
rs7767455	p.Arg82Gln	missense variant	-	NC_000006.12:g.121321705C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs7767455	p.Arg82Gln	missense variant	-	NC_000006.12:g.121321705C>T	UniProt,dbSNP
VAR_046958	p.Arg82Gln	missense variant	-	NC_000006.12:g.121321705C>T	UniProt
rs7767455	p.Arg82Leu	missense variant	-	NC_000006.12:g.121321705C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1410234737	p.Asn83Asp	missense variant	-	NC_000006.12:g.121321703T>C	gnomAD
rs1180405213	p.Asn83Lys	missense variant	-	NC_000006.12:g.121321701A>T	gnomAD
rs1472552505	p.Gln84Ter	stop gained	-	NC_000006.12:g.121321700G>A	gnomAD
rs1178546026	p.Gln84His	missense variant	-	NC_000006.12:g.121321698C>A	gnomAD
rs1248778136	p.Cys88Arg	missense variant	-	NC_000006.12:g.121321688A>G	gnomAD
rs1222614507	p.Cys88Phe	missense variant	-	NC_000006.12:g.121321687C>A	gnomAD
rs1238423089	p.Cys88Ter	stop gained	-	NC_000006.12:g.121321686G>T	TOPMed,gnomAD
COSM6104748	p.Gly89Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121321685C>A	NCI-TCGA Cosmic
COSM1072782	p.Gly89Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121321684C>T	NCI-TCGA Cosmic
rs368973341	p.Gly89Ser	missense variant	-	NC_000006.12:g.121321685C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1463800959	p.Tyr90His	missense variant	-	NC_000006.12:g.121321682A>G	gnomAD
rs1268105734	p.Tyr90Cys	missense variant	-	NC_000006.12:g.121321681T>C	TOPMed,gnomAD
rs1242478684	p.Asp91Asn	missense variant	-	NC_000006.12:g.121321679C>T	gnomAD
rs755408441	p.Val93Ile	missense variant	-	NC_000006.12:g.121321673C>T	ExAC,gnomAD
rs377092378	p.Thr98Pro	missense variant	-	NC_000006.12:g.121321658T>G	ESP,ExAC,gnomAD
rs1315505213	p.Lys99Glu	missense variant	-	NC_000006.12:g.121321655T>C	gnomAD
rs1454410226	p.Arg100Ile	missense variant	-	NC_000006.12:g.121321651C>A	NCI-TCGA Cosmic
rs1454410226	p.Arg100Ile	missense variant	-	NC_000006.12:g.121321651C>A	gnomAD
rs1319873597	p.Glu103Gln	missense variant	-	NC_000006.12:g.121321643C>G	gnomAD
rs755885234	p.Ser104Tyr	missense variant	-	NC_000006.12:g.121321639G>T	ExAC,TOPMed,gnomAD
rs755885234	p.Ser104Cys	missense variant	-	NC_000006.12:g.121321639G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu106Ter	stop gained	-	NC_000006.12:g.121321634C>A	NCI-TCGA
rs1227937886	p.Lys108Thr	missense variant	-	NC_000006.12:g.121317667T>G	gnomAD
rs1309018147	p.Glu109Ter	stop gained	-	NC_000006.12:g.121317665C>A	gnomAD
rs370051847	p.Met110Thr	missense variant	-	NC_000006.12:g.121317661A>G	ESP,ExAC,TOPMed,gnomAD
rs772688545	p.Met111Leu	missense variant	-	NC_000006.12:g.121317659T>A	ExAC,TOPMed,gnomAD
rs1437496460	p.Met111Ile	missense variant	-	NC_000006.12:g.121317657C>T	TOPMed
rs1159906190	p.His112Asn	missense variant	-	NC_000006.12:g.121317656G>T	TOPMed
rs537789219	p.Ile117Met	missense variant	-	NC_000006.12:g.121317639A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1408260263	p.Ile119Val	missense variant	-	NC_000006.12:g.121317635T>C	gnomAD
rs1463893375	p.Glu123Lys	missense variant	-	NC_000006.12:g.121317623C>T	gnomAD
rs747406997	p.Glu123Asp	missense variant	-	NC_000006.12:g.121317621C>G	ExAC,TOPMed,gnomAD
rs776088477	p.Met125Thr	missense variant	-	NC_000006.12:g.121317616A>G	ExAC,gnomAD
rs1012819155	p.Met125Val	missense variant	-	NC_000006.12:g.121317617T>C	TOPMed,gnomAD
rs772681470	p.Asn127Lys	missense variant	-	NC_000006.12:g.121317609G>C	ExAC,gnomAD
rs746413488	p.Lys128Asn	missense variant	-	NC_000006.12:g.121317606C>G	ExAC,gnomAD
rs377267743	p.Lys128Arg	missense variant	-	NC_000006.12:g.121317607T>C	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Glu130AsnPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.121317602_121317603insTCTTTATGTCCCTTTACGTT	NCI-TCGA
rs778857756	p.Glu130Val	missense variant	-	NC_000006.12:g.121317601T>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu130AlaPheSerTerUnk	frameshift	-	NC_000006.12:g.121317601_121317602insTTTG	NCI-TCGA
rs749416628	p.Asp132Val	missense variant	-	NC_000006.12:g.121317595T>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp132Asn	missense variant	-	NC_000006.12:g.121317596C>T	NCI-TCGA
rs1311508125	p.Glu133Asp	missense variant	-	NC_000006.12:g.121317591C>G	TOPMed
rs1379118850	p.Glu133Gly	missense variant	-	NC_000006.12:g.121317592T>C	TOPMed,gnomAD
rs191143380	p.Arg135Gln	missense variant	-	NC_000006.12:g.121317586C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751379533	p.Glu138Lys	missense variant	-	NC_000006.12:g.121317578C>T	ExAC,TOPMed,gnomAD
rs779873544	p.Ile143Val	missense variant	-	NC_000006.12:g.121317563T>C	ExAC,gnomAD
rs1393352392	p.Ile143Thr	missense variant	-	NC_000006.12:g.121317562A>G	TOPMed,gnomAD
COSM739402	p.Ile143Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121317561G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile143AsnPheSerTerUnk	frameshift	-	NC_000006.12:g.121317562_121317563insT	NCI-TCGA
rs199778877	p.Gln144Arg	missense variant	-	NC_000006.12:g.121317559T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs750417553	p.Lys145Met	missense variant	-	NC_000006.12:g.121317556T>A	ExAC,gnomAD
NCI-TCGA novel	p.Lys147Glu	missense variant	-	NC_000006.12:g.121317551T>C	NCI-TCGA
NCI-TCGA novel	p.Lys147Thr	missense variant	-	NC_000006.12:g.121317550T>G	NCI-TCGA
rs1157561661	p.Ser148Asn	missense variant	-	NC_000006.12:g.121317547C>T	gnomAD
rs1157561661	p.Ser148Thr	missense variant	-	NC_000006.12:g.121317547C>G	gnomAD
rs369594864	p.His149Asn	missense variant	-	NC_000006.12:g.121317545G>T	ESP,ExAC,TOPMed,gnomAD
rs369594864	p.His149Asp	missense variant	-	NC_000006.12:g.121317545G>C	ESP,ExAC,TOPMed,gnomAD
rs1488352407	p.His149Arg	missense variant	-	NC_000006.12:g.121317544T>C	TOPMed,gnomAD
rs753390780	p.Ser150Gly	missense variant	-	NC_000006.12:g.121317542T>C	ExAC,gnomAD
rs75540618	p.Arg152Cys	missense variant	-	NC_000006.12:g.121317536G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775961751	p.Arg152His	missense variant	-	NC_000006.12:g.121317535C>T	ExAC,TOPMed,gnomAD
rs772636474	p.Thr153Ile	missense variant	-	NC_000006.12:g.121317532G>A	ExAC,TOPMed,gnomAD
rs760110962	p.Asp154Gly	missense variant	-	NC_000006.12:g.121317529T>C	ExAC,gnomAD
rs1264980487	p.Asn155Asp	missense variant	-	NC_000006.12:g.121317527T>C	gnomAD
rs774938386	p.Asn155Ser	missense variant	-	NC_000006.12:g.121317526T>C	ExAC,TOPMed,gnomAD
rs770852531	p.Asn155Lys	missense variant	-	NC_000006.12:g.121317525A>T	ExAC,gnomAD
rs75747353	p.Ser157Phe	missense variant	-	NC_000006.12:g.121317520G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777810187	p.Asp158Gly	missense variant	-	NC_000006.12:g.121317517T>C	ExAC,TOPMed,gnomAD
rs769982883	p.Ser159Gly	missense variant	-	NC_000006.12:g.121317515T>C	ExAC,gnomAD
rs748409661	p.Asp160Gly	missense variant	-	NC_000006.12:g.121317511T>C	ExAC,gnomAD
rs779810260	p.Asn164His	missense variant	-	NC_000006.12:g.121317500T>G	ExAC,TOPMed,gnomAD
rs1395524348	p.Asn164Ser	missense variant	-	NC_000006.12:g.121317499T>C	TOPMed
NCI-TCGA novel	p.Asn164Thr	missense variant	-	NC_000006.12:g.121317499T>G	NCI-TCGA
rs778620332	p.Ser166Gly	missense variant	-	NC_000006.12:g.121310847T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser166Asn	missense variant	-	NC_000006.12:g.121310846C>T	NCI-TCGA
rs757184606	p.Lys168Thr	missense variant	-	NC_000006.12:g.121310840T>G	ExAC,TOPMed,gnomAD
rs757184606	p.Lys168Arg	missense variant	-	NC_000006.12:g.121310840T>C	ExAC,TOPMed,gnomAD
rs1268190973	p.Cys170Tyr	missense variant	-	NC_000006.12:g.121310834C>T	gnomAD
rs1467130356	p.Cys170Arg	missense variant	-	NC_000006.12:g.121310835A>G	gnomAD
rs1223518398	p.Gln171Glu	missense variant	-	NC_000006.12:g.121310832G>C	gnomAD
rs755702957	p.Leu174Ter	stop gained	-	NC_000006.12:g.121310822A>T	ExAC,TOPMed,gnomAD
COSM1440185	p.Leu174Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121310823A>T	NCI-TCGA Cosmic
rs755702957	p.Leu174Ser	missense variant	-	NC_000006.12:g.121310822A>G	ExAC,TOPMed,gnomAD
rs1272490917	p.Gln175Leu	missense variant	-	NC_000006.12:g.121310819T>A	gnomAD
rs1301924491	p.Asp179Asn	missense variant	-	NC_000006.12:g.121310808C>T	gnomAD
NCI-TCGA novel	p.Gln180Arg	missense variant	-	NC_000006.12:g.121310804T>C	NCI-TCGA
rs1383137990	p.Leu181Met	missense variant	-	NC_000006.12:g.121310802A>T	TOPMed
COSM1487189	p.Asp182Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121310799C>T	NCI-TCGA Cosmic
rs755250906	p.Pro183Thr	missense variant	-	NC_000006.12:g.121310796G>T	ExAC,gnomAD
rs751932310	p.Pro183Arg	missense variant	-	NC_000006.12:g.121310795G>C	ExAC,gnomAD
rs1409205681	p.Pro186Leu	missense variant	-	NC_000006.12:g.121310786G>A	gnomAD
rs1163458731	p.Lys187Glu	missense variant	-	NC_000006.12:g.121310784T>C	TOPMed
rs573022154	p.Glu188Gln	missense variant	-	NC_000006.12:g.121310781C>G	1000Genomes,ExAC,gnomAD
rs573022154	p.Glu188Lys	missense variant	-	NC_000006.12:g.121310781C>T	1000Genomes,ExAC,gnomAD
rs571743350	p.Arg190Ser	missense variant	-	NC_000006.12:g.121308096T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs777862010	p.Glu192Lys	missense variant	-	NC_000006.12:g.121308092C>T	ExAC
rs1177047549	p.Ala193Gly	missense variant	-	NC_000006.12:g.121308088G>C	gnomAD
rs747686469	p.Gln195Arg	missense variant	-	NC_000006.12:g.121308082T>C	ExAC,gnomAD
rs755647981	p.Gln195Lys	missense variant	-	NC_000006.12:g.121308083G>T	ExAC,gnomAD
rs754629638	p.Thr196Arg	missense variant	-	NC_000006.12:g.121308079G>C	ExAC,gnomAD
rs767746855	p.Thr196Ala	missense variant	-	NC_000006.12:g.121308080T>C	ExAC,gnomAD
NCI-TCGA novel	p.Thr196Ile	missense variant	-	NC_000006.12:g.121308079G>A	NCI-TCGA
rs1208409436	p.Leu197Ter	stop gained	-	NC_000006.12:g.121308076A>C	gnomAD
NCI-TCGA novel	p.Cys198Ter	stop gained	-	NC_000006.12:g.121308072_121308073insAAAACAAGTTCAAACTGATTGTTTTGTGAGAATTGTT	NCI-TCGA
rs766753507	p.Ala200Thr	missense variant	-	NC_000006.12:g.121308068C>T	ExAC,gnomAD
rs1281455372	p.Pro201Arg	missense variant	-	NC_000006.12:g.121308064G>C	gnomAD
rs370854423	p.Pro201Ala	missense variant	-	NC_000006.12:g.121308065G>C	ESP,ExAC,TOPMed,gnomAD
rs370854423	p.Pro201Ser	missense variant	-	NC_000006.12:g.121308065G>A	ESP,ExAC,TOPMed,gnomAD
rs77386127	p.Pro202Ala	missense variant	-	NC_000006.12:g.121308062G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs184732605	p.Asn207Ser	missense variant	-	NC_000006.12:g.121308046T>C	1000Genomes,ExAC
NCI-TCGA novel	p.Cys208Ter	stop gained	-	NC_000006.12:g.121308041_121308042CA>-	NCI-TCGA
COSM6171998	p.Trp211Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121308033C>A	NCI-TCGA Cosmic
rs1381754910	p.Trp211Leu	missense variant	-	NC_000006.12:g.121308034C>A	gnomAD
rs775585026	p.Thr212Ser	missense variant	-	NC_000006.12:g.121308032T>A	ExAC,TOPMed,gnomAD
rs1433460722	p.Thr213Ala	missense variant	-	NC_000006.12:g.121308029T>C	TOPMed
rs770697795	p.Thr213Ile	missense variant	-	NC_000006.12:g.121308028G>A	ExAC,TOPMed,gnomAD
rs201594875	p.Cys215Tyr	missense variant	-	NC_000006.12:g.121308022C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1444470940	p.Glu216Asp	missense variant	-	NC_000006.12:g.121308018T>G	gnomAD
rs374512287	p.Glu216Lys	missense variant	-	NC_000006.12:g.121308020C>T	ESP,ExAC,gnomAD
rs748138763	p.Leu218Pro	missense variant	-	NC_000006.12:g.121308013A>G	ExAC,TOPMed,gnomAD
rs567530456	p.Val220Met	missense variant	-	NC_000006.12:g.121308008C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs567530456	p.Val220Leu	missense variant	-	NC_000006.12:g.121308008C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs547748116	p.Asp224Glu	missense variant	-	NC_000006.12:g.121307994A>T	1000Genomes,ExAC,gnomAD
rs1379225072	p.Asp224His	missense variant	-	NC_000006.12:g.121307996C>G	gnomAD
rs989272125	p.Asp224Gly	missense variant	-	NC_000006.12:g.121307995T>C	gnomAD
rs758739395	p.Asp226Gly	missense variant	-	NC_000006.12:g.121307989T>C	ExAC,gnomAD
rs1246084775	p.Pro227Arg	missense variant	-	NC_000006.12:g.121307986G>C	TOPMed
rs750763632	p.Val228Met	missense variant	-	NC_000006.12:g.121307984C>T	ExAC,gnomAD
rs779286874	p.Ser230Asn	missense variant	-	NC_000006.12:g.121307977C>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp231Asn	missense variant	-	NC_000006.12:g.121304833C>T	NCI-TCGA
rs771592456	p.Arg232Trp	missense variant	-	NC_000006.12:g.121304830G>A	ExAC,TOPMed,gnomAD
rs181574808	p.Arg232Pro	missense variant	-	NC_000006.12:g.121304829C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs181574808	p.Arg232Leu	missense variant	-	NC_000006.12:g.121304829C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs181574808	p.Arg232Gln	missense variant	-	NC_000006.12:g.121304829C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757627247	p.Phe236Val	missense variant	-	NC_000006.12:g.121304818A>C	ExAC,gnomAD
rs569425701	p.Ala238Thr	missense variant	-	NC_000006.12:g.121304812C>T	1000Genomes
rs79040695	p.Leu242Ser	missense variant	-	NC_000006.12:g.121304799A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778178787	p.Leu243Phe	missense variant	-	NC_000006.12:g.121304797G>A	ExAC,gnomAD
rs756173006	p.Ser244Phe	missense variant	-	NC_000006.12:g.121304793G>A	ExAC,TOPMed,gnomAD
rs752700068	p.Pro245Leu	missense variant	-	NC_000006.12:g.121304790G>A	ExAC,TOPMed,gnomAD
rs752700068	p.Pro245Gln	missense variant	-	NC_000006.12:g.121304790G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu246Phe	missense variant	-	NC_000006.12:g.121304786T>A	NCI-TCGA
rs1171742573	p.Met248Arg	missense variant	-	NC_000006.12:g.121304781A>C	gnomAD
rs200654402	p.Met248Val	missense variant	-	NC_000006.12:g.121304782T>C	ESP,ExAC,TOPMed,gnomAD
rs920895140	p.Thr249Ile	missense variant	-	NC_000006.12:g.121304778G>A	TOPMed,gnomAD
rs1425173293	p.Glu251Lys	missense variant	-	NC_000006.12:g.121304773C>T	TOPMed,gnomAD
rs751888161	p.Glu251Asp	missense variant	-	NC_000006.12:g.121304771T>G	ExAC,gnomAD
rs752163282	p.Ile252Met	missense variant	-	NC_000006.12:g.121304768A>C	ExAC,gnomAD
rs761730450	p.Thr254Ala	missense variant	-	NC_000006.12:g.121304764T>C	ExAC,gnomAD
rs1261244409	p.Lys258Arg	missense variant	-	NC_000006.12:g.121304622T>C	gnomAD
rs1324379304	p.Tyr259Cys	missense variant	-	NC_000006.12:g.121304619T>C	TOPMed,gnomAD
rs1237190528	p.Leu260Trp	missense variant	-	NC_000006.12:g.121304616A>C	gnomAD
rs368310250	p.Ser262Thr	missense variant	-	NC_000006.12:g.121304611A>T	ESP,TOPMed
rs760514087	p.Ser266Phe	missense variant	-	NC_000006.12:g.121304598G>A	ExAC,gnomAD
rs764016337	p.Ser266Pro	missense variant	-	NC_000006.12:g.121304599A>G	ExAC,gnomAD
COSM1072772	p.Glu268Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121304593C>T	NCI-TCGA Cosmic
rs1448948146	p.Glu268Gly	missense variant	-	NC_000006.12:g.121304592T>C	TOPMed
rs185568348	p.His270Arg	missense variant	-	NC_000006.12:g.121304586T>C	1000Genomes,ExAC,gnomAD
rs759075480	p.Ile271Leu	missense variant	-	NC_000006.12:g.121304584T>G	ExAC,gnomAD
COSM739404	p.Pro272Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121304580G>C	NCI-TCGA Cosmic
rs375331890	p.Ser275Thr	missense variant	-	NC_000006.12:g.121304572A>T	ESP,ExAC,TOPMed,gnomAD
rs1450957479	p.Gly277Val	missense variant	-	NC_000006.12:g.121304565C>A	gnomAD
rs770553588	p.Val278Ile	missense variant	-	NC_000006.12:g.121304563C>T	ExAC,gnomAD
rs773445637	p.Asp279Ala	missense variant	-	NC_000006.12:g.121304559T>G	ExAC,gnomAD
rs564221990	p.Asp279Tyr	missense variant	-	NC_000006.12:g.121304560C>A	1000Genomes,ExAC,gnomAD
rs9490157	p.Ile280Val	missense variant	-	NC_000006.12:g.121304557T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781725666	p.Ile280Thr	missense variant	-	NC_000006.12:g.121304556A>G	ExAC,gnomAD
rs1258384791	p.Pro283Ser	missense variant	-	NC_000006.12:g.121304548G>A	gnomAD
rs193216500	p.Arg287His	missense variant	-	NC_000006.12:g.121304535C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs889563650	p.Arg287Cys	missense variant	-	NC_000006.12:g.121304536G>A	TOPMed,gnomAD
rs1454189457	p.Lys291Met	missense variant	-	NC_000006.12:g.121304523T>A	TOPMed
rs1489906890	p.Val292Ile	missense variant	-	NC_000006.12:g.121304426C>T	gnomAD
rs200703769	p.Arg293Cys	missense variant	-	NC_000006.12:g.121304423G>A	ESP,ExAC,TOPMed,gnomAD
rs377465896	p.Arg293His	missense variant	-	NC_000006.12:g.121304422C>T	ESP,ExAC,TOPMed,gnomAD
rs1269003077	p.Leu295Val	missense variant	-	NC_000006.12:g.121304417G>C	TOPMed,gnomAD
rs572804128	p.Asn296Ser	missense variant	-	NC_000006.12:g.121304413T>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM1568097	p.Asn296Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121304412A>T	NCI-TCGA Cosmic
COSM3620048	p.Tyr298His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121304408A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln299Ter	stop gained	-	NC_000006.12:g.121304405G>A	NCI-TCGA
rs1243995148	p.Ala302Thr	missense variant	-	NC_000006.12:g.121304396C>T	TOPMed
rs940673242	p.Pro303Ser	missense variant	-	NC_000006.12:g.121304393G>A	TOPMed
rs746006397	p.Ser304Phe	missense variant	-	NC_000006.12:g.121304389G>A	ExAC,gnomAD
rs755813147	p.Phe305Leu	missense variant	-	NC_000006.12:g.121304385G>C	ExAC,gnomAD
rs1211282201	p.Phe305Cys	missense variant	-	NC_000006.12:g.121304386A>C	gnomAD
rs781008183	p.Arg308His	missense variant	-	NC_000006.12:g.121304377C>T	ExAC,gnomAD
rs752518415	p.Arg308Cys	missense variant	-	NC_000006.12:g.121304378G>A	ExAC,TOPMed,gnomAD
rs1258363358	p.Tyr313His	missense variant	-	NC_000006.12:g.121303760A>G	TOPMed
rs780955437	p.Met314Ile	missense variant	-	NC_000006.12:g.121303755C>T	ExAC,gnomAD
rs754781417	p.Glu315Gln	missense variant	-	NC_000006.12:g.121303754C>G	ExAC,TOPMed,gnomAD
rs557959718	p.Glu316Gly	missense variant	-	NC_000006.12:g.121303750T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Glu316Lys	missense variant	-	NC_000006.12:g.121303751C>T	NCI-TCGA
COSM1072771	p.Glu316Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121303751C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu316Asp	missense variant	-	NC_000006.12:g.121303749T>G	NCI-TCGA
rs372865216	p.Ser320Gly	missense variant	-	NC_000006.12:g.121303739T>C	ESP,ExAC,TOPMed,gnomAD
rs1219469730	p.Thr321Ser	missense variant	-	NC_000006.12:g.121303735G>C	gnomAD
NCI-TCGA novel	p.Val327Gly	missense variant	-	NC_000006.12:g.121303717A>C	NCI-TCGA
rs544736064	p.His329Asp	missense variant	-	NC_000006.12:g.121303712G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1470389619	p.His329Arg	missense variant	-	NC_000006.12:g.121303711T>C	TOPMed
rs764718810	p.Asn330Ser	missense variant	-	NC_000006.12:g.121303708T>C	ExAC,TOPMed,gnomAD
rs1333291123	p.Gln331Arg	missense variant	-	NC_000006.12:g.121303705T>C	TOPMed,gnomAD
rs756920472	p.Gln331Glu	missense variant	-	NC_000006.12:g.121303706G>C	ExAC,gnomAD
rs993313182	p.His333Arg	missense variant	-	NC_000006.12:g.121303699T>C	gnomAD
rs1030211625	p.His333Tyr	missense variant	-	NC_000006.12:g.121303700G>A	gnomAD
rs753557552	p.Val334Ala	missense variant	-	NC_000006.12:g.121303696A>G	ExAC,gnomAD
rs1406128642	p.Val335Asp	missense variant	-	NC_000006.12:g.121303693A>T	gnomAD
COSM594137	p.Ser336Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121303690G>A	NCI-TCGA Cosmic
rs764483143	p.Ser336Ter	stop gained	-	NC_000006.12:g.121303690G>T	ExAC,gnomAD
rs1159204092	p.Gln337Ter	stop gained	-	NC_000006.12:g.121303688G>A	TOPMed,gnomAD
rs776088581	p.Lys338Asn	missense variant	-	NC_000006.12:g.121303683C>G	ExAC,gnomAD
COSM1072770	p.Lys338Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121303683C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys338Thr	missense variant	-	NC_000006.12:g.121303684T>G	NCI-TCGA
rs1182300691	p.Ile339Thr	missense variant	-	NC_000006.12:g.121303681A>G	gnomAD
COSM1072769	p.Leu340Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121303677C>A	NCI-TCGA Cosmic
rs1366812582	p.Leu340Trp	missense variant	-	NC_000006.12:g.121303678A>C	TOPMed
rs768043693	p.Pro342Thr	missense variant	-	NC_000006.12:g.121303673G>T	ExAC,gnomAD
rs368934038	p.Pro342Leu	missense variant	-	NC_000006.12:g.121303672G>A	ESP,ExAC,TOPMed,gnomAD
rs1281789811	p.Tyr344Cys	missense variant	-	NC_000006.12:g.121303666T>C	gnomAD
rs768402360	p.Phe345Ile	missense variant	-	NC_000006.12:g.121303664A>T	ExAC,gnomAD
rs1354168022	p.Phe346Ser	missense variant	-	NC_000006.12:g.121303660A>G	gnomAD
rs1311122874	p.Ala347Ser	missense variant	-	NC_000006.12:g.121303658C>A	gnomAD
rs781116575	p.Leu348Ser	missense variant	-	NC_000006.12:g.121303654A>G	ExAC,TOPMed,gnomAD
rs1002788359	p.Val349Asp	missense variant	-	NC_000006.12:g.121303651A>T	TOPMed
rs745851336	p.Asp350Asn	missense variant	-	NC_000006.12:g.121303649C>T	ExAC,gnomAD
rs745851336	p.Asp350Tyr	missense variant	-	NC_000006.12:g.121303649C>A	ExAC,gnomAD
rs778428612	p.Thr351Ile	missense variant	-	NC_000006.12:g.121303645G>A	ExAC,gnomAD
rs1450372175	p.Thr351Ala	missense variant	-	NC_000006.12:g.121303646T>C	gnomAD
rs1420479138	p.Lys352Glu	missense variant	-	NC_000006.12:g.121303643T>C	gnomAD
rs555955350	p.Lys352Thr	missense variant	-	NC_000006.12:g.121303642T>G	1000Genomes,ExAC,gnomAD
rs755877318	p.Val354Met	missense variant	-	NC_000006.12:g.121303637C>T	ExAC,TOPMed,gnomAD
rs1220914471	p.Val354Gly	missense variant	-	NC_000006.12:g.121303636A>C	TOPMed
rs199782641	p.Lys357Gln	missense variant	-	NC_000006.12:g.121303628T>G	ESP,ExAC,TOPMed,gnomAD
COSM1072768	p.Lys358Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121303623C>A	NCI-TCGA Cosmic
rs1177041928	p.Trp359Leu	missense variant	-	NC_000006.12:g.121303621C>A	TOPMed
rs369991535	p.Trp359Cys	missense variant	-	NC_000006.12:g.121303620C>A	ESP,ExAC,TOPMed,gnomAD
rs1480982834	p.Trp359Arg	missense variant	-	NC_000006.12:g.121303622A>T	TOPMed
rs369991535	p.Trp359Cys	missense variant	-	NC_000006.12:g.121303620C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp359ValPheSerTerUnk	frameshift	-	NC_000006.12:g.121303623_121303624insT	NCI-TCGA
rs1342438087	p.His361Gln	missense variant	-	NC_000006.12:g.121299503A>C	gnomAD
rs368391297	p.Ala362Ser	missense variant	-	NC_000006.12:g.121299502C>A	ESP,ExAC,TOPMed,gnomAD
rs1389357201	p.His363Tyr	missense variant	-	NC_000006.12:g.121299499G>A	TOPMed
rs1368774919	p.Arg366Ile	missense variant	-	NC_000006.12:g.121299489C>A	gnomAD
rs755827704	p.Leu372Pro	missense variant	-	NC_000006.12:g.121299471A>G	ExAC,gnomAD
rs1425072444	p.Leu373His	missense variant	-	NC_000006.12:g.121299468A>T	TOPMed,gnomAD
rs1465746575	p.Leu373Phe	missense variant	-	NC_000006.12:g.121299469G>A	TOPMed,gnomAD
rs1465746575	p.Leu373Ile	missense variant	-	NC_000006.12:g.121299469G>T	TOPMed,gnomAD
rs1425072444	p.Leu373Pro	missense variant	-	NC_000006.12:g.121299468A>G	TOPMed,gnomAD
COSM1440183	p.Glu374Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121299464T>G	NCI-TCGA Cosmic
rs9387944	p.Thr375Lys	missense variant	-	NC_000006.12:g.121299462G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781567231	p.Lys376Glu	missense variant	-	NC_000006.12:g.121299460T>C	ExAC,gnomAD
rs372200890	p.Tyr377Ter	stop gained	-	NC_000006.12:g.121299455A>T	ESP,ExAC,TOPMed,gnomAD
rs755306173	p.Tyr377Phe	missense variant	-	NC_000006.12:g.121299456T>A	ExAC,TOPMed,gnomAD
rs755306173	p.Tyr377Cys	missense variant	-	NC_000006.12:g.121299456T>C	ExAC,TOPMed,gnomAD
rs766895595	p.Ser379Tyr	missense variant	-	NC_000006.12:g.121299450G>T	ExAC,TOPMed,gnomAD
rs766895595	p.Ser379Phe	missense variant	-	NC_000006.12:g.121299450G>A	ExAC,TOPMed,gnomAD
rs1223164615	p.Leu380Val	missense variant	-	NC_000006.12:g.121299448G>C	gnomAD
rs747774753	p.Val381Ile	missense variant	-	NC_000006.12:g.121294660C>T	ExAC,gnomAD
rs751849141	p.Thr383Ala	missense variant	-	NC_000006.12:g.121294654T>C	ExAC,gnomAD
rs780438238	p.Thr383Ile	missense variant	-	NC_000006.12:g.121294653G>A	ExAC,TOPMed,gnomAD
rs1451114135	p.Ala384Gly	missense variant	-	NC_000006.12:g.121294650G>C	TOPMed,gnomAD
rs758891682	p.Ile385Phe	missense variant	-	NC_000006.12:g.121294648T>A	ExAC,gnomAD
rs765233735	p.Cys388Phe	missense variant	-	NC_000006.12:g.121294638C>A	ExAC,gnomAD
rs1186740849	p.Cys388Arg	missense variant	-	NC_000006.12:g.121294639A>G	gnomAD
rs1258286390	p.Val389Ile	missense variant	-	NC_000006.12:g.121294636C>T	TOPMed,gnomAD
rs1488064917	p.Gln390Ter	stop gained	-	NC_000006.12:g.121294633G>A	gnomAD
rs200409965	p.Gln390His	missense variant	-	NC_000006.12:g.121294631C>G	ESP,ExAC,TOPMed,gnomAD
rs1219314470	p.Phe392Ser	missense variant	-	NC_000006.12:g.121294626A>G	gnomAD
rs1357727348	p.Glu393Asp	missense variant	-	NC_000006.12:g.121294622T>A	gnomAD
rs1284196893	p.Met394Thr	missense variant	-	NC_000006.12:g.121294620A>G	gnomAD
rs754039147	p.Cys395Tyr	missense variant	-	NC_000006.12:g.121294617C>T	ExAC,TOPMed,gnomAD
rs754039147	p.Cys395Ser	missense variant	-	NC_000006.12:g.121294617C>G	ExAC,TOPMed,gnomAD
rs1239759460	p.Lys396Arg	missense variant	-	NC_000006.12:g.121294614T>C	TOPMed
COSM3620044	p.Lys396Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121294615T>C	NCI-TCGA Cosmic
rs199684963	p.Thr397Ile	missense variant	-	NC_000006.12:g.121294611G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu402Ter	stop gained	-	NC_000006.12:g.121294597C>A	NCI-TCGA
rs1397552049	p.Leu404Ser	missense variant	-	NC_000006.12:g.121294590A>G	gnomAD
rs774009815	p.His406Tyr	missense variant	-	NC_000006.12:g.121294585G>A	ExAC,gnomAD
rs1182524077	p.His406Leu	missense variant	-	NC_000006.12:g.121294584T>A	TOPMed
rs774009815	p.His406Asp	missense variant	-	NC_000006.12:g.121294585G>C	ExAC,gnomAD
rs985658256	p.Lys408Glu	missense variant	-	NC_000006.12:g.121294579T>C	TOPMed
rs1414917889	p.Lys413Glu	missense variant	-	NC_000006.12:g.121292188T>C	gnomAD
rs1293677587	p.Phe417Val	missense variant	-	NC_000006.12:g.121292176A>C	TOPMed
rs1029506739	p.Tyr418Cys	missense variant	-	NC_000006.12:g.121292172T>C	TOPMed,gnomAD
rs762877005	p.Tyr419His	missense variant	-	NC_000006.12:g.121292170A>G	ExAC,gnomAD
rs773235849	p.Leu420Ter	stop gained	-	NC_000006.12:g.121292166A>C	ExAC,TOPMed,gnomAD
rs1437862119	p.Gly421Glu	missense variant	-	NC_000006.12:g.121292163C>T	TOPMed
rs765064522	p.Gln422Pro	missense variant	-	NC_000006.12:g.121292160T>G	ExAC,TOPMed,gnomAD
rs761851856	p.Glu423Ter	stop gained	-	NC_000006.12:g.121292158C>A	ExAC,gnomAD
rs1258085333	p.Gln425Ter	stop gained	-	NC_000006.12:g.121292152G>A	gnomAD
rs776002244	p.Tyr426Cys	missense variant	-	NC_000006.12:g.121292148T>C	ExAC,TOPMed,gnomAD
rs1190778982	p.Ile427Val	missense variant	-	NC_000006.12:g.121292146T>C	TOPMed
rs74677725	p.Ile430Leu	missense variant	-	NC_000006.12:g.121292137T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775154354	p.Arg438Gly	missense variant	-	NC_000006.12:g.121292113T>C	ExAC,gnomAD
rs1401154432	p.Leu440Phe	missense variant	-	NC_000006.12:g.121292105C>G	gnomAD
rs780383132	p.Ile441Thr	missense variant	-	NC_000006.12:g.121292103A>G	gnomAD
rs1168746663	p.Lys443Glu	missense variant	-	NC_000006.12:g.121292098T>C	TOPMed
rs1412811554	p.Gln444Pro	missense variant	-	NC_000006.12:g.121292094T>G	TOPMed,gnomAD
COSM1072765	p.Lys447Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121292085T>G	NCI-TCGA Cosmic
rs372997464	p.Ile451Leu	missense variant	-	NC_000006.12:g.121292074T>G	ESP,ExAC,TOPMed,gnomAD
rs372997464	p.Ile451Val	missense variant	-	NC_000006.12:g.121292074T>C	ESP,ExAC,TOPMed,gnomAD
rs1362360195	p.Lys452Arg	missense variant	-	NC_000006.12:g.121292070T>C	gnomAD
rs369009845	p.Lys452Asn	missense variant	-	NC_000006.12:g.121292069C>A	ESP,ExAC,TOPMed,gnomAD
COSM1072764	p.Lys454Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121292064T>C	NCI-TCGA Cosmic
rs777658924	p.Lys454Gln	missense variant	-	NC_000006.12:g.121292065T>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys457Thr	missense variant	-	NC_000006.12:g.121292055T>G	NCI-TCGA
rs752930659	p.Gly458Ser	missense variant	-	NC_000006.12:g.121292053C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly458ArgPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.121292053_121292054insT	NCI-TCGA
COSM1072763	p.Gly458Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121292053C>A	NCI-TCGA Cosmic
rs755247543	p.Leu459Trp	missense variant	-	NC_000006.12:g.121283907A>C	ExAC,TOPMed,gnomAD
rs577124824	p.Leu459Phe	missense variant	-	NC_000006.12:g.121283906C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs367923600	p.Ser461Cys	missense variant	-	NC_000006.12:g.121283901G>C	ExAC,TOPMed,gnomAD
rs1378559589	p.Leu462Ile	missense variant	-	NC_000006.12:g.121283899G>T	gnomAD
rs757104992	p.Leu462Pro	missense variant	-	NC_000006.12:g.121283898A>G	ExAC,gnomAD
rs557088263	p.Ile463Val	missense variant	-	NC_000006.12:g.121283896T>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM1072762	p.Asp464Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121283893C>T	NCI-TCGA Cosmic
rs1304023250	p.Leu465Pro	missense variant	-	NC_000006.12:g.121283889A>G	TOPMed
COSM1072761	p.Leu466Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121283886A>C	NCI-TCGA Cosmic
rs764069843	p.Leu466Phe	missense variant	-	NC_000006.12:g.121283887G>A	ExAC,TOPMed,gnomAD
rs749631407	p.Val467Ile	missense variant	-	NC_000006.12:g.121283884C>T	ExAC,gnomAD
COSM279440	p.Val467Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121283883A>G	NCI-TCGA Cosmic
rs749631407	p.Val467Phe	missense variant	-	NC_000006.12:g.121283884C>A	ExAC,gnomAD
rs1420767893	p.Leu468Ile	missense variant	-	NC_000006.12:g.121283881G>T	TOPMed,gnomAD
rs1258995885	p.Thr470Ala	missense variant	-	NC_000006.12:g.121283875T>C	gnomAD
rs370027510	p.Gln471His	missense variant	-	NC_000006.12:g.121283870T>G	ExAC,TOPMed,gnomAD
COSM1440182	p.Leu472Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121283868A>C	NCI-TCGA Cosmic
rs1163308962	p.Ile473Met	missense variant	-	NC_000006.12:g.121283864G>C	gnomAD
rs1003987697	p.Ile473Thr	missense variant	-	NC_000006.12:g.121283865A>G	TOPMed
rs767069299	p.Tyr474Cys	missense variant	-	NC_000006.12:g.121283862T>C	ExAC,TOPMed,gnomAD
rs1337555042	p.Tyr475Ter	stop gained	-	NC_000006.12:g.121283858G>T	gnomAD
rs774060292	p.Pro477Thr	missense variant	-	NC_000006.12:g.121283854G>T	ExAC,TOPMed,gnomAD
rs774060292	p.Pro477Ala	missense variant	-	NC_000006.12:g.121283854G>C	ExAC,TOPMed,gnomAD
rs1056307867	p.Ser478Gly	missense variant	-	NC_000006.12:g.121283851T>C	TOPMed
rs1056307867	p.Ser478Cys	missense variant	-	NC_000006.12:g.121283851T>A	TOPMed
rs771163450	p.Cys479Trp	missense variant	-	NC_000006.12:g.121283846A>C	ExAC,gnomAD
NCI-TCGA novel	p.Cys479Tyr	missense variant	-	NC_000006.12:g.121283847C>T	NCI-TCGA
rs1475894036	p.Lys481Gln	missense variant	-	NC_000006.12:g.121283842T>G	gnomAD
rs1418377476	p.Met482Ile	missense variant	-	NC_000006.12:g.121283837C>A	TOPMed
rs1260674500	p.Thr483Ala	missense variant	-	NC_000006.12:g.121283836T>C	gnomAD
rs763402182	p.Ser484Ter	stop gained	-	NC_000006.12:g.121283832G>C	ExAC,gnomAD
rs1156878444	p.Ala485Val	missense variant	-	NC_000006.12:g.121283829G>A	TOPMed
rs1488500064	p.Ala486Ser	missense variant	-	NC_000006.12:g.121283827C>A	gnomAD
rs1219316562	p.His487Pro	missense variant	-	NC_000006.12:g.121283823T>G	TOPMed,gnomAD
rs377121755	p.His487Tyr	missense variant	-	NC_000006.12:g.121283824G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His487Arg	missense variant	-	NC_000006.12:g.121283823T>C	NCI-TCGA
rs1324793232	p.Ser488Pro	missense variant	-	NC_000006.12:g.121283821A>G	TOPMed
rs140063363	p.Ser488Leu	missense variant	-	NC_000006.12:g.121283820G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM1177106	p.Glu489Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121281685C>A	NCI-TCGA Cosmic
rs201652810	p.Glu489Val	missense variant	-	NC_000006.12:g.121281686T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1445144796	p.Asn490Ser	missense variant	-	NC_000006.12:g.121281683T>C	gnomAD
rs765758059	p.Ser492Phe	missense variant	-	NC_000006.12:g.121281677G>A	ExAC,gnomAD
rs765758059	p.Ser492Cys	missense variant	-	NC_000006.12:g.121281677G>C	ExAC,gnomAD
rs762355644	p.Pro493Ser	missense variant	-	NC_000006.12:g.121281675G>A	ExAC,TOPMed,gnomAD
COSM3620042	p.Pro493Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121281674G>A	NCI-TCGA Cosmic
rs1425541532	p.Thr498Asn	missense variant	-	NC_000006.12:g.121281659G>T	gnomAD
rs747085285	p.Glu499Gln	missense variant	-	NC_000006.12:g.121281657C>G	ExAC,gnomAD
rs1266630462	p.Leu501Pro	missense variant	-	NC_000006.12:g.121281650A>G	TOPMed
rs1199405682	p.Trp502Arg	missense variant	-	NC_000006.12:g.121281648A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Trp502Ter	stop gained	-	NC_000006.12:g.121281647C>T	NCI-TCGA
rs1481655668	p.Ile503Thr	missense variant	-	NC_000006.12:g.121281644A>G	gnomAD
rs1254487522	p.Leu504Phe	missense variant	-	NC_000006.12:g.121281642G>A	gnomAD
rs79221470	p.Ser505Cys	missense variant	-	NC_000006.12:g.121281639T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1313173906	p.Ser505Thr	missense variant	-	NC_000006.12:g.121281638C>G	gnomAD
rs79221470	p.Ser505Gly	missense variant	-	NC_000006.12:g.121281639T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200303171	p.Asp506Val	missense variant	-	NC_000006.12:g.121281635T>A	ExAC,gnomAD
rs755906263	p.Gln507Pro	missense variant	-	NC_000006.12:g.121281632T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln507Lys	missense variant	-	NC_000006.12:g.121281633G>T	NCI-TCGA
rs781131102	p.Glu509Gly	missense variant	-	NC_000006.12:g.121281626T>C	ExAC,TOPMed,gnomAD
rs751049160	p.Cys510Ser	missense variant	-	NC_000006.12:g.121281623C>G	ExAC,gnomAD
rs751049160	p.Cys510Tyr	missense variant	-	NC_000006.12:g.121281623C>T	ExAC,gnomAD
rs765875717	p.Ala511Ser	missense variant	-	NC_000006.12:g.121281621C>A	ExAC,gnomAD
rs758059813	p.Glu513Val	missense variant	-	NC_000006.12:g.121281614T>A	ExAC,gnomAD
rs137979053	p.Tyr516Phe	missense variant	-	NC_000006.12:g.121281605T>A	1000Genomes,ExAC,gnomAD
rs137979053	p.Tyr516Cys	missense variant	-	NC_000006.12:g.121281605T>C	1000Genomes,ExAC,gnomAD
rs762288375	p.Asn517Tyr	missense variant	-	NC_000006.12:g.121281603T>A	ExAC,TOPMed,gnomAD
rs762288375	p.Asn517Asp	missense variant	-	NC_000006.12:g.121281603T>C	ExAC,TOPMed,gnomAD
rs1175328751	p.Ile519Thr	missense variant	-	NC_000006.12:g.121281596A>G	gnomAD
NCI-TCGA novel	p.Val520Leu	missense variant	-	NC_000006.12:g.121281594C>G	NCI-TCGA
rs201680026	p.Ile521Val	missense variant	-	NC_000006.12:g.121281591T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1379687214	p.Ile521Met	missense variant	-	NC_000006.12:g.121281589T>C	TOPMed,gnomAD
rs1204103577	p.Glu522Lys	missense variant	-	NC_000006.12:g.121281588C>T	gnomAD
rs764660976	p.Thr523Ile	missense variant	-	NC_000006.12:g.121281584G>A	ExAC
rs1179102070	p.Thr523Ser	missense variant	-	NC_000006.12:g.121281585T>A	gnomAD
rs1420970314	p.Leu524Phe	missense variant	-	NC_000006.12:g.121281582G>A	TOPMed,gnomAD
rs1420970314	p.Leu524Ile	missense variant	-	NC_000006.12:g.121281582G>T	TOPMed,gnomAD
rs761153200	p.Leu524His	missense variant	-	NC_000006.12:g.121281581A>T	ExAC,TOPMed,gnomAD
rs1305208158	p.Gln526Arg	missense variant	-	NC_000006.12:g.121281575T>C	TOPMed
rs543310549	p.Pro527His	missense variant	-	NC_000006.12:g.121281572G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1318774655	p.Pro527Ser	missense variant	-	NC_000006.12:g.121281573G>A	TOPMed
rs543310549	p.Pro527Leu	missense variant	-	NC_000006.12:g.121281572G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1483721948	p.His529Gln	missense variant	-	NC_000006.12:g.121281565G>C	gnomAD
rs1291158707	p.His529Tyr	missense variant	-	NC_000006.12:g.121281567G>A	TOPMed
rs1282709453	p.Asn530Ser	missense variant	-	NC_000006.12:g.121281563T>C	TOPMed,gnomAD
rs1282709453	p.Asn530Ile	missense variant	-	NC_000006.12:g.121281563T>A	TOPMed,gnomAD
rs569558097	p.Leu531Val	missense variant	-	NC_000006.12:g.121281561A>C	ExAC,TOPMed,gnomAD
rs774590000	p.Met532Arg	missense variant	-	NC_000006.12:g.121281557A>C	ExAC,gnomAD
rs774590000	p.Met532Thr	missense variant	-	NC_000006.12:g.121281557A>G	ExAC,gnomAD
rs1269326040	p.Lys533Glu	missense variant	-	NC_000006.12:g.121281555T>C	TOPMed
rs1195843271	p.Ala537Gly	missense variant	-	NC_000006.12:g.121279244G>C	gnomAD
rs202238791	p.Ala537Pro	missense variant	-	NC_000006.12:g.121279245C>G	ESP,ExAC,TOPMed,gnomAD
rs202238791	p.Ala537Ser	missense variant	-	NC_000006.12:g.121279245C>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser538Tyr	missense variant	-	NC_000006.12:g.121279241G>T	NCI-TCGA
rs1312916681	p.Asn540Asp	missense variant	-	NC_000006.12:g.121279236T>C	TOPMed
rs1409177701	p.Cys541Gly	missense variant	-	NC_000006.12:g.121279233A>C	TOPMed,gnomAD
rs1334941859	p.Glu543Lys	missense variant	-	NC_000006.12:g.121279227C>T	gnomAD
rs1283854461	p.Ile547Leu	missense variant	-	NC_000006.12:g.121279215T>G	TOPMed
rs753257342	p.Ile549Val	missense variant	-	NC_000006.12:g.121279209T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile549Met	missense variant	-	NC_000006.12:g.121279207T>C	NCI-TCGA
rs1316969250	p.Ala550Thr	missense variant	-	NC_000006.12:g.121279206C>T	gnomAD
rs991717579	p.Gly551Ser	missense variant	-	NC_000006.12:g.121279203C>T	TOPMed
NCI-TCGA novel	p.Gly551Cys	missense variant	-	NC_000006.12:g.121279203C>A	NCI-TCGA
rs1177054605	p.Gly551Asp	missense variant	-	NC_000006.12:g.121279202C>T	gnomAD
rs1270394087	p.Leu553Ser	missense variant	-	NC_000006.12:g.121279196A>G	gnomAD
rs778627862	p.Ala554Thr	missense variant	-	NC_000006.12:g.121279194C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg555Ile	missense variant	-	NC_000006.12:g.121279190C>A	NCI-TCGA
NCI-TCGA novel	p.Ile556Val	missense variant	-	NC_000006.12:g.121279188T>C	NCI-TCGA
rs1468910078	p.Glu561Asp	missense variant	-	NC_000006.12:g.121279171T>A	TOPMed,gnomAD
rs1441489489	p.Glu561Val	missense variant	-	NC_000006.12:g.121279172T>A	gnomAD
rs753557471	p.Gly562Ala	missense variant	-	NC_000006.12:g.121279169C>G	ExAC,TOPMed,gnomAD
rs753557471	p.Gly562Glu	missense variant	-	NC_000006.12:g.121279169C>T	ExAC,TOPMed,gnomAD
rs1248722423	p.Leu566Val	missense variant	-	NC_000006.12:g.121279158G>C	gnomAD
rs764832559	p.Gly569Ala	missense variant	-	NC_000006.12:g.121279148C>G	ExAC,gnomAD
rs764832559	p.Gly569Glu	missense variant	-	NC_000006.12:g.121279148C>T	ExAC,gnomAD
rs1477250970	p.Ala570Val	missense variant	-	NC_000006.12:g.121279145G>A	gnomAD
NCI-TCGA novel	p.Asn571Asp	missense variant	-	NC_000006.12:g.121279143T>C	NCI-TCGA
rs1223464058	p.Met572Ile	missense variant	-	NC_000006.12:g.121279138C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser574Phe	missense variant	-	NC_000006.12:g.121279133G>A	NCI-TCGA
rs1490213828	p.Ser574Pro	missense variant	-	NC_000006.12:g.121279134A>G	gnomAD
rs753201205	p.Ser575Thr	missense variant	-	NC_000006.12:g.121279131A>T	ExAC,gnomAD
rs1470251862	p.Glu576Lys	missense variant	-	NC_000006.12:g.121279128C>T	gnomAD
NCI-TCGA novel	p.Glu577LysPheSerTerUnk	frameshift	-	NC_000006.12:g.121279125C>-	NCI-TCGA
COSM1440180	p.Glu577Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121279125C>A	NCI-TCGA Cosmic
COSM259842	p.Pro579His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121256283G>T	NCI-TCGA Cosmic
rs777311700	p.Pro579Ser	missense variant	-	NC_000006.12:g.121256284G>A	ExAC,gnomAD
rs755841235	p.Thr580Ile	missense variant	-	NC_000006.12:g.121256280G>A	ExAC,TOPMed,gnomAD
rs755465061	p.Ala582Ser	missense variant	-	NC_000006.12:g.121256275C>A	ExAC,TOPMed,gnomAD
rs755465061	p.Ala582Thr	missense variant	-	NC_000006.12:g.121256275C>T	ExAC,TOPMed,gnomAD
rs143181650	p.Ile584Arg	missense variant	-	NC_000006.12:g.121256268A>C	1000Genomes,ExAC,gnomAD
rs752077627	p.Ile584Val	missense variant	-	NC_000006.12:g.121256269T>C	ExAC,gnomAD
rs143181650	p.Ile584Thr	missense variant	-	NC_000006.12:g.121256268A>G	1000Genomes,ExAC,gnomAD
rs750598563	p.Ile585Met	missense variant	-	NC_000006.12:g.121256264A>C	ExAC,gnomAD
rs765342712	p.Ala586Asp	missense variant	-	NC_000006.12:g.121256262G>T	ExAC,TOPMed,gnomAD
rs765342712	p.Ala586Gly	missense variant	-	NC_000006.12:g.121256262G>C	ExAC,TOPMed,gnomAD
rs762159947	p.Gln587Glu	missense variant	-	NC_000006.12:g.121256260G>C	ExAC,gnomAD
rs1035588513	p.Gln587Arg	missense variant	-	NC_000006.12:g.121256259T>C	TOPMed
rs775130673	p.Phe588Leu	missense variant	-	NC_000006.12:g.121256257A>G	ExAC,TOPMed,gnomAD
rs767358318	p.Ser589Leu	missense variant	-	NC_000006.12:g.121256253G>A	ExAC,TOPMed,gnomAD
rs1332698114	p.Lys591Arg	missense variant	-	NC_000006.12:g.121256247T>C	TOPMed
NCI-TCGA novel	p.Lys591AsnPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.121256246T>-	NCI-TCGA
rs1410766577	p.Leu592His	missense variant	-	NC_000006.12:g.121256244A>T	TOPMed,gnomAD
rs1022528983	p.Leu592Phe	missense variant	-	NC_000006.12:g.121256245G>A	TOPMed,gnomAD
rs1471515962	p.Asp594Asn	missense variant	-	NC_000006.12:g.121256239C>T	gnomAD
NCI-TCGA novel	p.Glu595Ter	stop gained	-	NC_000006.12:g.121256236C>A	NCI-TCGA
NCI-TCGA novel	p.Ile597Met	missense variant	-	NC_000006.12:g.121256228A>C	NCI-TCGA
rs770514713	p.Ile597Phe	missense variant	-	NC_000006.12:g.121256230T>A	ExAC,TOPMed,gnomAD
rs1419331648	p.Ser598Ala	missense variant	-	NC_000006.12:g.121256227A>C	TOPMed
rs7745023	p.Ile599Val	missense variant	-	NC_000006.12:g.121256224T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1462497038	p.Ile599Met	missense variant	-	NC_000006.12:g.121256222T>C	TOPMed
rs7745023	p.Ile599Leu	missense variant	-	NC_000006.12:g.121256224T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs12203967	p.Ser601Phe	missense variant	-	NC_000006.12:g.121256217G>A	TOPMed,gnomAD
rs12203967	p.Ser601Tyr	missense variant	-	NC_000006.12:g.121256217G>T	TOPMed,gnomAD
rs769327826	p.Gly602Ala	missense variant	-	NC_000006.12:g.121256214C>G	ExAC,gnomAD
COSM739409	p.Gly602Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121256214C>T	NCI-TCGA Cosmic
rs769327826	p.Gly602Val	missense variant	-	NC_000006.12:g.121256214C>A	ExAC,gnomAD
COSM3777060	p.Ser603Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121256211G>C	NCI-TCGA Cosmic
rs755344533	p.Met605Ile	missense variant	-	NC_000006.12:g.121256204C>T	ExAC,gnomAD
rs1442075627	p.Met605Leu	missense variant	-	NC_000006.12:g.121256206T>A	TOPMed
rs747477432	p.Pro607Ala	missense variant	-	NC_000006.12:g.121256200G>C	ExAC
rs1226747824	p.Pro607Leu	missense variant	-	NC_000006.12:g.121256199G>A	gnomAD
rs1355648470	p.Val609Gly	missense variant	-	NC_000006.12:g.121256193A>C	gnomAD
NCI-TCGA novel	p.Gly611Ter	stop gained	-	NC_000006.12:g.121256188C>A	NCI-TCGA
rs780564711	p.Ala612Thr	missense variant	-	NC_000006.12:g.121256185C>T	ExAC,gnomAD
rs1338946150	p.Ile614Asn	missense variant	-	NC_000006.12:g.121256178A>T	gnomAD
rs750463642	p.Arg618His	missense variant	-	NC_000006.12:g.121256166C>T	ExAC,gnomAD
rs918794851	p.Arg618Cys	missense variant	-	NC_000006.12:g.121256167G>A	TOPMed,gnomAD
rs1163292548	p.Ile620Val	missense variant	-	NC_000006.12:g.121256161T>C	gnomAD
rs757359868	p.Ile620Thr	missense variant	-	NC_000006.12:g.121256160A>G	ExAC,TOPMed,gnomAD
rs754094422	p.Ser622Gly	missense variant	-	NC_000006.12:g.121256155T>C	ExAC,gnomAD
rs767380550	p.Ser622Ile	missense variant	-	NC_000006.12:g.121256154C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser622Arg	missense variant	-	NC_000006.12:g.121256155T>G	NCI-TCGA
rs1260558575	p.Thr623Arg	missense variant	-	NC_000006.12:g.121256151G>C	gnomAD
rs774336012	p.Cys624Ter	stop gained	-	NC_000006.12:g.121256147A>T	ExAC,gnomAD
rs766389175	p.Glu625Gly	missense variant	-	NC_000006.12:g.121256145T>C	ExAC,TOPMed,gnomAD
rs1451129588	p.Gly626Cys	missense variant	-	NC_000006.12:g.121256143C>A	gnomAD
NCI-TCGA novel	p.Leu627Val	missense variant	-	NC_000006.12:g.121256140A>C	NCI-TCGA
rs1267036022	p.Gln628His	missense variant	-	NC_000006.12:g.121256135C>A	TOPMed,gnomAD
rs747692273	p.Leu630Ser	missense variant	-	NC_000006.12:g.121256130A>G	ExAC,gnomAD
rs775674341	p.Ile631Val	missense variant	-	NC_000006.12:g.121256128T>C	ExAC,TOPMed,gnomAD
rs80160290	p.Thr632Ile	missense variant	-	NC_000006.12:g.121256124G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1480802693	p.Leu635Phe	missense variant	-	NC_000006.12:g.121256114C>A	TOPMed
rs747354586	p.Ile639Thr	missense variant	-	NC_000006.12:g.121256103A>G	ExAC,gnomAD
rs1037546083	p.Ala640Glu	missense variant	-	NC_000006.12:g.121256100G>T	TOPMed,gnomAD
rs1037546083	p.Ala640Val	missense variant	-	NC_000006.12:g.121256100G>A	TOPMed,gnomAD
rs758891570	p.Ala642Pro	missense variant	-	NC_000006.12:g.121256095C>G	ExAC,TOPMed,gnomAD
rs758891570	p.Ala642Ser	missense variant	-	NC_000006.12:g.121256095C>A	ExAC,TOPMed,gnomAD
rs746395745	p.Trp643Leu	missense variant	-	NC_000006.12:g.121256091C>A	ExAC,gnomAD
NCI-TCGA novel	p.Trp643Arg	missense variant	-	NC_000006.12:g.121256092A>G	NCI-TCGA
rs1169226678	p.Lys644Arg	missense variant	-	NC_000006.12:g.121256088T>C	gnomAD
rs778788123	p.Lys645Asn	missense variant	-	NC_000006.12:g.121256084C>A	ExAC,TOPMed,gnomAD
rs778788123	p.Lys645Asn	missense variant	-	NC_000006.12:g.121256084C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys645ArgPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.121256085T>-	NCI-TCGA
rs553385620	p.Thr646Ile	missense variant	-	NC_000006.12:g.121255409G>A	1000Genomes,ExAC,gnomAD
rs1300711628	p.Thr646Ala	missense variant	-	NC_000006.12:g.121255410T>C	gnomAD
NCI-TCGA novel	p.Ser650Leu	missense variant	-	NC_000006.12:g.121255397G>A	NCI-TCGA
rs1377895930	p.Glu651Val	missense variant	-	NC_000006.12:g.121255394T>A	TOPMed
NCI-TCGA novel	p.Arg652Ile	missense variant	-	NC_000006.12:g.121255391C>A	NCI-TCGA
rs1057016517	p.Pro656Thr	missense variant	-	NC_000006.12:g.121255380G>T	TOPMed,gnomAD
rs1057016517	p.Pro656Ser	missense variant	-	NC_000006.12:g.121255380G>A	TOPMed,gnomAD
rs938603866	p.Val657Ala	missense variant	-	NC_000006.12:g.121255376A>G	TOPMed,gnomAD
rs201833154	p.Glu658Asp	missense variant	-	NC_000006.12:g.121255372C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758248002	p.Glu658Gly	missense variant	-	NC_000006.12:g.121255373T>C	ExAC,gnomAD
COSM1440179	p.Glu658Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121255374C>T	NCI-TCGA Cosmic
rs779929168	p.Glu658Gln	missense variant	-	NC_000006.12:g.121255374C>G	ExAC,gnomAD
rs765201929	p.Gly659Ser	missense variant	-	NC_000006.12:g.121255371C>T	ExAC,TOPMed,gnomAD
rs765201929	p.Gly659Arg	missense variant	-	NC_000006.12:g.121255371C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly659ValPheSerTerUnk	frameshift	-	NC_000006.12:g.121255370C>-	NCI-TCGA
rs954796464	p.Gly659Val	missense variant	-	NC_000006.12:g.121255370C>A	gnomAD
rs753329266	p.Asp661Val	missense variant	-	NC_000006.12:g.121255364T>A	ExAC,TOPMed,gnomAD
rs1259996945	p.Val666Ile	missense variant	-	NC_000006.12:g.121255350C>T	gnomAD
rs760249239	p.Ser667Gly	missense variant	-	NC_000006.12:g.121255347T>C	ExAC,gnomAD
rs775152075	p.Glu669Lys	missense variant	-	NC_000006.12:g.121255341C>T	ExAC,TOPMed,gnomAD
rs1239222557	p.Ser670Tyr	missense variant	-	NC_000006.12:g.121255337G>T	gnomAD
rs368557262	p.Ile673Leu	missense variant	-	NC_000006.12:g.121255329T>G	ESP,ExAC,TOPMed,gnomAD
rs368557262	p.Ile673Val	missense variant	-	NC_000006.12:g.121255329T>C	ESP,ExAC,TOPMed,gnomAD
rs1373949539	p.Trp676Cys	missense variant	-	NC_000006.12:g.121242330C>A	gnomAD
rs77089134	p.Trp676Leu	missense variant	-	NC_000006.12:g.121242331C>A	ExAC,gnomAD
rs776618381	p.Glu677Val	missense variant	-	NC_000006.12:g.121242328T>A	ExAC,gnomAD
rs776618381	p.Glu677Gly	missense variant	-	NC_000006.12:g.121242328T>C	ExAC,gnomAD
rs747206098	p.Asp678Glu	missense variant	-	NC_000006.12:g.121242324A>C	ExAC,TOPMed,gnomAD
rs1252900561	p.Leu681Val	missense variant	-	NC_000006.12:g.121242317A>C	gnomAD
COSM4932033	p.Leu681Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121242315T>A	NCI-TCGA Cosmic
rs1275790247	p.Leu681Ter	stop gained	-	NC_000006.12:g.121242316A>C	TOPMed
rs200162387	p.Leu684Ser	missense variant	-	NC_000006.12:g.121242307A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs749171183	p.Leu685Gln	missense variant	-	NC_000006.12:g.121242304A>T	ExAC,TOPMed,gnomAD
rs1229307946	p.Ala689Ser	missense variant	-	NC_000006.12:g.121242293C>A	TOPMed,gnomAD
rs1302582365	p.Pro691Leu	missense variant	-	NC_000006.12:g.121242286G>A	TOPMed,gnomAD
rs1452423723	p.Pro691Ala	missense variant	-	NC_000006.12:g.121242287G>C	gnomAD
rs1302582365	p.Pro691Arg	missense variant	-	NC_000006.12:g.121242286G>C	TOPMed,gnomAD
COSM3697480	p.Gly693Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121242281C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly693AspPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.121242285G>-	NCI-TCGA
rs754601123	p.Gly693Val	missense variant	-	NC_000006.12:g.121242280C>A	ExAC,gnomAD
rs751178222	p.Leu694Ser	missense variant	-	NC_000006.12:g.121242277A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu695Gln	missense variant	-	NC_000006.12:g.121242274A>T	NCI-TCGA
NCI-TCGA novel	p.Gln698His	missense variant	-	NC_000006.12:g.121242264T>A	NCI-TCGA
rs763436647	p.Gly701Arg	missense variant	-	NC_000006.12:g.121242257C>G	ExAC,gnomAD
rs1194740486	p.Ala702Thr	missense variant	-	NC_000006.12:g.121242254C>T	TOPMed,gnomAD
rs1377038144	p.Ala702Val	missense variant	-	NC_000006.12:g.121242253G>A	TOPMed
rs1254289093	p.Glu705Asp	missense variant	-	NC_000006.12:g.121242243T>A	gnomAD
rs1179008562	p.Thr708Ile	missense variant	-	NC_000006.12:g.121242235G>A	TOPMed,gnomAD
rs773763981	p.Phe709Ile	missense variant	-	NC_000006.12:g.121242233A>T	ExAC,gnomAD
rs372494211	p.Ile710Thr	missense variant	-	NC_000006.12:g.121242229A>G	ESP,ExAC,TOPMed,gnomAD
rs372494211	p.Ile710Lys	missense variant	-	NC_000006.12:g.121242229A>T	ESP,ExAC,TOPMed,gnomAD
rs927896573	p.Asn712Ser	missense variant	-	NC_000006.12:g.121242223T>C	TOPMed,gnomAD
rs776711519	p.Asn712Asp	missense variant	-	NC_000006.12:g.121242224T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asn712Lys	missense variant	-	NC_000006.12:g.121242222A>T	NCI-TCGA
rs1341972792	p.Arg713Gln	missense variant	-	NC_000006.12:g.121242220C>T	TOPMed
rs768618779	p.Arg713Ter	stop gained	-	NC_000006.12:g.121242221G>A	ExAC,TOPMed,gnomAD
rs1441540812	p.TyrAla714Ter	stop gained	-	NC_000006.12:g.121242214_121242216del	gnomAD
rs1277900319	p.Tyr714Asn	missense variant	-	NC_000006.12:g.121242218A>T	gnomAD
rs1277900319	p.Tyr714His	missense variant	-	NC_000006.12:g.121242218A>G	gnomAD
rs1400150186	p.Tyr714Ser	missense variant	-	NC_000006.12:g.121242217T>G	TOPMed
COSM4942094	p.Ala715Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121242214G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala715Ser	missense variant	-	NC_000006.12:g.121242215C>A	NCI-TCGA
COSM309761	p.Lys717AsnPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121242207T>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser721Arg	missense variant	-	NC_000006.12:g.121241547G>T	NCI-TCGA
rs758167119	p.Lys724Arg	missense variant	-	NC_000006.12:g.121241539T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys724Asn	missense variant	-	NC_000006.12:g.121241538T>G	NCI-TCGA
rs758167119	p.Lys724Thr	missense variant	-	NC_000006.12:g.121241539T>G	ExAC,TOPMed,gnomAD
rs200104119	p.Lys725Asn	missense variant	-	NC_000006.12:g.121241535T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys725AsnPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.121241535T>-	NCI-TCGA
rs201609323	p.Gly727Asp	missense variant	-	NC_000006.12:g.121241530C>T	ESP,ExAC,TOPMed,gnomAD
rs756030991	p.Tyr728Cys	missense variant	-	NC_000006.12:g.121241527T>C	ExAC,TOPMed,gnomAD
rs1344015005	p.Gly729Arg	missense variant	-	NC_000006.12:g.121241525C>T	gnomAD
rs764183037	p.Gly729Ala	missense variant	-	NC_000006.12:g.121241524C>G	ExAC
rs998398608	p.Val730Ile	missense variant	-	NC_000006.12:g.121241522C>T	TOPMed,gnomAD
rs1245826991	p.Leu731Ser	missense variant	-	NC_000006.12:g.121241518A>G	gnomAD
rs1369634812	p.Thr733Ile	missense variant	-	NC_000006.12:g.121241512G>A	TOPMed
rs200603439	p.Arg734Ter	stop gained	-	NC_000006.12:g.121241510G>A	ESP,ExAC,TOPMed,gnomAD
rs750440790	p.Arg734Gln	missense variant	-	NC_000006.12:g.121241509C>T	ExAC,TOPMed,gnomAD
rs750440790	p.Arg734Leu	missense variant	-	NC_000006.12:g.121241509C>A	ExAC,TOPMed,gnomAD
rs999491334	p.Val735Glu	missense variant	-	NC_000006.12:g.121241506A>T	TOPMed
rs199718831	p.Ala736Val	missense variant	-	NC_000006.12:g.121241503G>A	ESP,ExAC,TOPMed,gnomAD
rs375692748	p.Ala736Thr	missense variant	-	NC_000006.12:g.121241504C>T	ESP,ExAC,TOPMed,gnomAD
rs1188468352	p.Thr738Ile	missense variant	-	NC_000006.12:g.121241497G>A	gnomAD
rs191814118	p.Ala739Thr	missense variant	-	NC_000006.12:g.121241495C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3777059	p.Ala740Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121241491G>C	NCI-TCGA Cosmic
rs900326039	p.Gly741Asp	missense variant	-	NC_000006.12:g.121241488C>T	TOPMed,gnomAD
rs769581491	p.Gly741Ser	missense variant	-	NC_000006.12:g.121241489C>T	ExAC,TOPMed,gnomAD
rs200421884	p.Gly742Asp	missense variant	-	NC_000006.12:g.121241485C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748080205	p.Gly742Ser	missense variant	-	NC_000006.12:g.121241486C>T	ExAC,gnomAD
rs200421884	p.Gly742Val	missense variant	-	NC_000006.12:g.121241485C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779781840	p.Leu745Ile	missense variant	-	NC_000006.12:g.121241477G>T	ExAC,gnomAD
rs1294131112	p.Lys746Glu	missense variant	-	NC_000006.12:g.121241474T>C	gnomAD
NCI-TCGA novel	p.Lys746Asn	missense variant	-	NC_000006.12:g.121241472T>G	NCI-TCGA
rs1235535205	p.Lys747Glu	missense variant	-	NC_000006.12:g.121241471T>C	gnomAD
COSM3171139	p.Lys747SerPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121241470T>-	NCI-TCGA Cosmic
rs1235535205	p.Lys747Ter	stop gained	-	NC_000006.12:g.121241471T>A	gnomAD
rs1160452236	p.Lys747Arg	missense variant	-	NC_000006.12:g.121241470T>C	TOPMed
rs758113999	p.Lys747Asn	missense variant	-	NC_000006.12:g.121241469C>A	ExAC,gnomAD
rs1459155969	p.Phe750Leu	missense variant	-	NC_000006.12:g.121239186A>G	TOPMed,gnomAD
rs372378065	p.Asn752Ser	missense variant	-	NC_000006.12:g.121239179T>C	ESP,ExAC,TOPMed,gnomAD
rs778684628	p.Glu753Lys	missense variant	-	NC_000006.12:g.121239177C>T	ExAC,gnomAD
rs756971457	p.Ile755Val	missense variant	-	NC_000006.12:g.121239171T>C	ExAC,TOPMed
rs749610893	p.Ile755Lys	missense variant	-	NC_000006.12:g.121239170A>T	ExAC
rs756521076	p.Glu757Val	missense variant	-	NC_000006.12:g.121239164T>A	ExAC,gnomAD
rs553617432	p.Glu757Gln	missense variant	-	NC_000006.12:g.121239165C>G	ExAC,gnomAD
rs753205997	p.Leu758Ter	stop gained	-	NC_000006.12:g.121239161A>C	ExAC,gnomAD
rs1453895442	p.Trp759Ter	stop gained	-	NC_000006.12:g.121239157C>T	gnomAD
rs1253661264	p.Leu762Pro	missense variant	-	NC_000006.12:g.121239149A>G	gnomAD
rs767545501	p.Glu763Ter	stop gained	-	NC_000006.12:g.121239147C>A	ExAC,gnomAD
rs755074542	p.Tyr764Cys	missense variant	-	NC_000006.12:g.121239143T>C	ExAC
rs766560197	p.Asp767Gly	missense variant	-	NC_000006.12:g.121239134T>C	ExAC,gnomAD
rs763304267	p.Asp768Asn	missense variant	-	NC_000006.12:g.121239132C>T	ExAC,TOPMed,gnomAD
rs200973240	p.Arg770Gly	missense variant	-	NC_000006.12:g.121239126T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1248030850	p.Thr772Ile	missense variant	-	NC_000006.12:g.121239119G>A	TOPMed,gnomAD
rs1234146434	p.Pro774Ser	missense variant	-	NC_000006.12:g.121239114G>A	gnomAD
rs775585873	p.Pro774Leu	missense variant	-	NC_000006.12:g.121239113G>A	ExAC,gnomAD
rs1387995294	p.Thr776Ala	missense variant	-	NC_000006.12:g.121239108T>C	gnomAD
rs201419425	p.Pro778Thr	missense variant	-	NC_000006.12:g.121239102G>T	ESP,ExAC,TOPMed,gnomAD
rs745336213	p.Val779Leu	missense variant	-	NC_000006.12:g.121239099C>G	ExAC,gnomAD
NCI-TCGA novel	p.Val779Ala	missense variant	-	NC_000006.12:g.121239098A>G	NCI-TCGA
rs774070072	p.Asp780Val	missense variant	-	NC_000006.12:g.121239095T>A	ExAC,TOPMed
rs200352559	p.Pro781Thr	missense variant	-	NC_000006.12:g.121239093G>T	TOPMed,gnomAD
rs200352559	p.Pro781Ser	missense variant	-	NC_000006.12:g.121239093G>A	TOPMed,gnomAD
rs748983448	p.Asp783Gly	missense variant	-	NC_000006.12:g.121239086T>C	ExAC,TOPMed,gnomAD
rs367966058	p.Arg784Ter	stop gained	-	NC_000006.12:g.121239084G>A	ESP,ExAC,TOPMed,gnomAD
rs781649690	p.Arg784Gln	missense variant	-	NC_000006.12:g.121239083C>T	ExAC,TOPMed,gnomAD
rs1250090966	p.Ser785Ile	missense variant	-	NC_000006.12:g.121239080C>A	gnomAD
rs1177943280	p.Ser785Arg	missense variant	-	NC_000006.12:g.121239079G>C	TOPMed,gnomAD
rs1484256772	p.Cys786Gly	missense variant	-	NC_000006.12:g.121239078A>C	gnomAD
rs755521566	p.Gln787Glu	missense variant	-	NC_000006.12:g.121239075G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln787His	missense variant	-	NC_000006.12:g.121239073T>A	NCI-TCGA
NCI-TCGA novel	p.Ser789Tyr	missense variant	-	NC_000006.12:g.121223351G>T	NCI-TCGA
rs762503574	p.Tyr799Ser	missense variant	-	NC_000006.12:g.121223321T>G	ExAC,TOPMed
rs909430979	p.Pro800Ser	missense variant	-	NC_000006.12:g.121223319G>A	-
rs537787315	p.Ile802Met	missense variant	-	NC_000006.12:g.121223311A>C	1000Genomes,ExAC,gnomAD
rs1164409091	p.Glu804Gly	missense variant	-	NC_000006.12:g.121223306T>C	gnomAD
rs776925179	p.Arg807Lys	missense variant	-	NC_000006.12:g.121223297C>T	ExAC,gnomAD
rs1191445220	p.Asn808Ser	missense variant	-	NC_000006.12:g.121223294T>C	TOPMed,gnomAD
rs374455744	p.Gln809Glu	missense variant	-	NC_000006.12:g.121223292G>C	ESP,ExAC,gnomAD
rs187705659	p.Asp810Val	missense variant	-	NC_000006.12:g.121223288T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp810Asn	missense variant	-	NC_000006.12:g.121223289C>T	NCI-TCGA
rs772492859	p.Leu811Arg	missense variant	-	NC_000006.12:g.121223285A>C	ExAC
rs201397946	p.Leu811Ile	missense variant	-	NC_000006.12:g.121223286G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu811Val	missense variant	-	NC_000006.12:g.121223286G>C	NCI-TCGA
NCI-TCGA novel	p.Pro812His	missense variant	-	NC_000006.12:g.121223282G>T	NCI-TCGA
rs745953529	p.Lys814Glu	missense variant	-	NC_000006.12:g.121223277T>C	ExAC,gnomAD
rs778914931	p.Thr815Ala	missense variant	-	NC_000006.12:g.121223274T>C	ExAC,TOPMed,gnomAD
COSM1246920	p.Ser818Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121223264G>A	NCI-TCGA Cosmic
rs1208667645	p.Ser818Ala	missense variant	-	NC_000006.12:g.121223265A>C	TOPMed
rs529189059	p.Arg820His	missense variant	-	NC_000006.12:g.121223258C>T	ExAC,TOPMed,gnomAD
rs754841752	p.Arg820Ser	missense variant	-	NC_000006.12:g.121223259G>T	ExAC,gnomAD
rs754841752	p.Arg820Cys	missense variant	-	NC_000006.12:g.121223259G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg820Gly	missense variant	-	NC_000006.12:g.121223259G>C	NCI-TCGA
rs565790502	p.Val822Ala	missense variant	-	NC_000006.12:g.121223252A>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM3828946	p.Pro823Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121223249G>A	NCI-TCGA Cosmic
rs551954369	p.Thr824Ala	missense variant	-	NC_000006.12:g.121223247T>C	1000Genomes,ExAC,gnomAD
rs1368814747	p.Cys825Phe	missense variant	-	NC_000006.12:g.121223243C>A	gnomAD
rs764743693	p.Ile827Thr	missense variant	-	NC_000006.12:g.121223237A>G	ExAC,gnomAD
rs1179162808	p.Asp828Gly	missense variant	-	NC_000006.12:g.121205162T>C	gnomAD
rs560143926	p.Asp828Asn	missense variant	-	NC_000006.12:g.121205163C>T	1000Genomes,ExAC,gnomAD
rs1480524147	p.Ile829Val	missense variant	-	NC_000006.12:g.121205160T>C	gnomAD
rs770566250	p.Asp831Gly	missense variant	-	NC_000006.12:g.121205153T>C	ExAC,gnomAD
rs770566250	p.Asp831Val	missense variant	-	NC_000006.12:g.121205153T>A	ExAC,gnomAD
rs763727966	p.Arg832Gly	missense variant	-	NC_000006.12:g.121205151T>C	ExAC,gnomAD
rs1448641382	p.Ile834Thr	missense variant	-	NC_000006.12:g.121205144A>G	TOPMed
rs376375094	p.Leu836Phe	missense variant	-	NC_000006.12:g.121205137C>A	ESP,ExAC,TOPMed,gnomAD
rs760299666	p.Leu836Ser	missense variant	-	NC_000006.12:g.121205138A>G	ExAC,gnomAD
rs767776014	p.Asn837Asp	missense variant	-	NC_000006.12:g.121205136T>C	ExAC,gnomAD
rs1267721664	p.Ser838Pro	missense variant	-	NC_000006.12:g.121205133A>G	TOPMed,gnomAD
rs771614305	p.Ser838Phe	missense variant	-	NC_000006.12:g.121205132G>A	ExAC,gnomAD
rs771614305	p.Ser838Cys	missense variant	-	NC_000006.12:g.121205132G>C	ExAC,gnomAD
rs1238557215	p.Lys841Asn	missense variant	-	NC_000006.12:g.121205122C>G	gnomAD
rs1351310667	p.Ile842Val	missense variant	-	NC_000006.12:g.121205121T>C	gnomAD
rs185093433	p.Arg843Cys	missense variant	-	NC_000006.12:g.121205118G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770128390	p.Arg843His	missense variant	-	NC_000006.12:g.121205117C>T	ExAC,TOPMed,gnomAD
rs185093433	p.Arg843Ser	missense variant	-	NC_000006.12:g.121205118G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1054284681	p.Ser844Phe	missense variant	-	NC_000006.12:g.121205114G>A	TOPMed,gnomAD
rs1054284681	p.Ser844Tyr	missense variant	-	NC_000006.12:g.121205114G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Asn847Asp	missense variant	-	NC_000006.12:g.121205106T>C	NCI-TCGA
rs779835394	p.Tyr848Phe	missense variant	-	NC_000006.12:g.121205102T>A	ExAC,gnomAD
rs748334463	p.Tyr848His	missense variant	-	NC_000006.12:g.121205103A>G	ExAC,gnomAD
rs748334463	p.Tyr848Asn	missense variant	-	NC_000006.12:g.121205103A>T	ExAC,gnomAD
COSM1487188	p.Glu849Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121205100C>T	NCI-TCGA Cosmic
rs1434804006	p.Glu849Ter	stop gained	-	NC_000006.12:g.121205100C>A	TOPMed
rs1426610075	p.Gln850Lys	missense variant	-	NC_000006.12:g.121205097G>T	gnomAD
rs374803442	p.His852Arg	missense variant	-	NC_000006.12:g.121205090T>C	ESP,ExAC,TOPMed,gnomAD
rs778787368	p.Phe854Leu	missense variant	-	NC_000006.12:g.121205085A>G	ExAC,gnomAD
rs1045968889	p.Asp858Asn	missense variant	-	NC_000006.12:g.121161055C>T	TOPMed,gnomAD
rs769614495	p.Ile860Val	missense variant	-	NC_000006.12:g.121161049T>C	ExAC,gnomAD
rs748120787	p.Asp862Gly	missense variant	-	NC_000006.12:g.121161042T>C	ExAC,gnomAD
rs775944843	p.Asp862Glu	missense variant	-	NC_000006.12:g.121161041A>T	ExAC,TOPMed,gnomAD
rs554522121	p.Leu864Phe	missense variant	-	NC_000006.12:g.121161035T>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ser865Leu	missense variant	-	NC_000006.12:g.121161033G>A	NCI-TCGA
rs758169249	p.Arg868Ile	missense variant	-	NC_000006.12:g.121161024C>A	ExAC,gnomAD
rs758169249	p.Arg868Lys	missense variant	-	NC_000006.12:g.121161024C>T	ExAC,gnomAD
rs746218871	p.Asn869Asp	missense variant	-	NC_000006.12:g.121161022T>C	ExAC,TOPMed,gnomAD
rs779343511	p.His870Asp	missense variant	-	NC_000006.12:g.121161019G>C	ExAC,gnomAD
rs1178273969	p.Val871Ile	missense variant	-	NC_000006.12:g.121161016C>T	gnomAD
rs757650575	p.Leu872Val	missense variant	-	NC_000006.12:g.121161013G>C	ExAC,TOPMed,gnomAD
rs757650575	p.Leu872Phe	missense variant	-	NC_000006.12:g.121161013G>A	ExAC,TOPMed,gnomAD
rs754394746	p.Val873Ile	missense variant	-	NC_000006.12:g.121161010C>T	ExAC,TOPMed,gnomAD
rs1183352436	p.Ile875Val	missense variant	-	NC_000006.12:g.121161004T>C	TOPMed,gnomAD
rs764042251	p.Asn876Ser	missense variant	-	NC_000006.12:g.121161000T>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu877Ile	missense variant	-	NC_000006.12:g.121160998G>T	NCI-TCGA
NCI-TCGA novel	p.Leu877Phe	missense variant	-	NC_000006.12:g.121160998G>A	NCI-TCGA
rs752823773	p.Val878Ala	missense variant	-	NC_000006.12:g.121160994A>G	ExAC,TOPMed,gnomAD
rs756157694	p.Val878Ile	missense variant	-	NC_000006.12:g.121160995C>T	ExAC,TOPMed
NCI-TCGA novel	p.Gly879Cys	missense variant	-	NC_000006.12:g.121160992C>A	NCI-TCGA
NCI-TCGA novel	p.Gly879Val	missense variant	-	NC_000006.12:g.121160991C>A	NCI-TCGA
COSM739412	p.Gly880Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121160988C>A	NCI-TCGA Cosmic
rs759819997	p.Pro881Leu	missense variant	-	NC_000006.12:g.121160985G>A	ExAC,gnomAD
rs376860064	p.Arg884Gly	missense variant	-	NC_000006.12:g.121160977G>C	ESP,ExAC,TOPMed,gnomAD
rs376860064	p.Arg884Trp	missense variant	-	NC_000006.12:g.121160977G>A	ESP,ExAC,TOPMed,gnomAD
rs776659632	p.Arg884Leu	missense variant	-	NC_000006.12:g.121160976C>A	ExAC,TOPMed,gnomAD
rs776659632	p.Arg884Gln	missense variant	-	NC_000006.12:g.121160976C>T	ExAC,TOPMed,gnomAD
rs112983358	p.Pro888Leu	missense variant	-	NC_000006.12:g.121160964G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg889Met	missense variant	-	NC_000006.12:g.121160961C>A	NCI-TCGA
rs745551546	p.Glu892Lys	missense variant	-	NC_000006.12:g.121160953C>T	ExAC,gnomAD
rs200717925	p.Lys893Met	missense variant	-	NC_000006.12:g.121160949T>A	gnomAD
NCI-TCGA novel	p.Asn896Ile	missense variant	-	NC_000006.12:g.121160096T>A	NCI-TCGA
rs1264742404	p.Pro897Arg	missense variant	-	NC_000006.12:g.121160093G>C	gnomAD
COSM739413	p.Pro899Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121160087G>C	NCI-TCGA Cosmic
rs1209085414	p.Pro899His	missense variant	-	NC_000006.12:g.121160087G>T	gnomAD
NCI-TCGA novel	p.Pro901Leu	missense variant	-	NC_000006.12:g.121160081G>A	NCI-TCGA
rs1356767019	p.Met902Lys	missense variant	-	NC_000006.12:g.121160078A>T	gnomAD
COSM3620036	p.Ser904Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121160072G>A	NCI-TCGA Cosmic
rs1277762372	p.Ser905Leu	missense variant	-	NC_000006.12:g.121160069G>A	-
rs1439848910	p.Tyr906His	missense variant	-	NC_000006.12:g.121160067A>G	TOPMed,gnomAD
rs1226135331	p.Pro907Ser	missense variant	-	NC_000006.12:g.121160064G>A	gnomAD
rs1230618769	p.Asn910Asp	missense variant	-	NC_000006.12:g.121160055T>C	gnomAD
rs751628250	p.Tyr912Asn	missense variant	-	NC_000006.12:g.121160049A>T	ExAC,gnomAD
rs780298524	p.Tyr912Cys	missense variant	-	NC_000006.12:g.121160048T>C	ExAC,gnomAD
rs758602871	p.Leu913Met	missense variant	-	NC_000006.12:g.121160046G>T	ExAC,TOPMed,gnomAD
rs753677265	p.Ser914Leu	missense variant	-	NC_000006.12:g.121160042G>A	ExAC,gnomAD
rs1317112116	p.Asp915Tyr	missense variant	-	NC_000006.12:g.121160040C>A	gnomAD
rs763998538	p.Thr917Ile	missense variant	-	NC_000006.12:g.121160033G>A	ExAC,gnomAD
rs763998538	p.Thr917Arg	missense variant	-	NC_000006.12:g.121160033G>C	ExAC,gnomAD
rs1391260789	p.Ala920Ser	missense variant	-	NC_000006.12:g.121160025C>A	gnomAD
COSM3857940	p.Asp925Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121131752T>A	NCI-TCGA Cosmic
rs150710532	p.Asp925Glu	missense variant	-	NC_000006.12:g.121131751G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs910099679	p.Asn926Asp	missense variant	-	NC_000006.12:g.121131750T>C	TOPMed,gnomAD
rs755944931	p.Asn926Ser	missense variant	-	NC_000006.12:g.121131749T>C	ExAC,TOPMed,gnomAD
rs752590903	p.Asp927Gly	missense variant	-	NC_000006.12:g.121131746T>C	ExAC,gnomAD
COSM3857939	p.Asp927Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121131745A>T	NCI-TCGA Cosmic
rs1048389932	p.Lys930Gln	missense variant	-	NC_000006.12:g.121131738T>G	TOPMed
NCI-TCGA novel	p.Leu933CysPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.121131728_121131729insTGTAGAAAAC	NCI-TCGA
rs754938090	p.Leu935Phe	missense variant	-	NC_000006.12:g.121131723G>A	ExAC,TOPMed,gnomAD
rs918585761	p.Ile937Val	missense variant	-	NC_000006.12:g.121131717T>C	TOPMed,gnomAD
rs918585761	p.Ile937Leu	missense variant	-	NC_000006.12:g.121131717T>G	TOPMed,gnomAD
rs371231820	p.Ser938Tyr	missense variant	-	NC_000006.12:g.121131713G>T	ExAC,TOPMed,gnomAD
rs765820285	p.Asp939His	missense variant	-	NC_000006.12:g.121131711C>G	ExAC,TOPMed,gnomAD
rs765820285	p.Asp939Tyr	missense variant	-	NC_000006.12:g.121131711C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp939Glu	missense variant	-	NC_000006.12:g.121131709A>C	NCI-TCGA
rs762544656	p.Lys940Thr	missense variant	-	NC_000006.12:g.121131707T>G	ExAC,gnomAD
rs772880893	p.Trp944Leu	missense variant	-	NC_000006.12:g.121131695C>A	ExAC,gnomAD
rs1230208795	p.Ile945Val	missense variant	-	NC_000006.12:g.121131693T>C	TOPMed
COSM3429940	p.Glu946Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121131689T>G	NCI-TCGA Cosmic
rs550998385	p.Asn947Ser	missense variant	-	NC_000006.12:g.121131686T>C	TOPMed,gnomAD
rs575043241	p.Phe952Leu	missense variant	-	NC_000006.12:g.121131670A>T	1000Genomes,ExAC,gnomAD
rs762140250	p.Met956Val	missense variant	-	NC_000006.12:g.121131660T>C	ExAC,TOPMed,gnomAD
rs1471776037	p.Pro960Leu	missense variant	-	NC_000006.12:g.121131647G>A	gnomAD
rs1484951659	p.Asp961Tyr	missense variant	-	NC_000006.12:g.121131645C>A	TOPMed
rs1188412175	p.Asp961Val	missense variant	-	NC_000006.12:g.121131644T>A	gnomAD
rs181607730	p.Ile962Thr	missense variant	-	NC_000006.12:g.121131641A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775594656	p.Ile962Met	missense variant	-	NC_000006.12:g.121131640T>C	ExAC,TOPMed,gnomAD
rs772079232	p.Ile963Val	missense variant	-	NC_000006.12:g.121131639T>C	ExAC,gnomAD
rs779259082	p.Gly965Glu	missense variant	-	NC_000006.12:g.121131632C>T	ExAC,gnomAD
rs1223141763	p.Glu966Val	missense variant	-	NC_000006.12:g.121131629T>A	gnomAD
NCI-TCGA novel	p.Ala967Ser	missense variant	-	NC_000006.12:g.121131627C>A	NCI-TCGA
rs757613099	p.Ala967Thr	missense variant	-	NC_000006.12:g.121131627C>T	ExAC,gnomAD
rs1035978604	p.Ile969Val	missense variant	-	NC_000006.12:g.121126456T>C	TOPMed
rs981687256	p.Ile969Thr	missense variant	-	NC_000006.12:g.121126455A>G	TOPMed,gnomAD
rs1479179408	p.Leu972Pro	missense variant	-	NC_000006.12:g.121126446A>G	TOPMed
rs1402842378	p.His978Arg	missense variant	-	NC_000006.12:g.121126428T>C	gnomAD
COSM1440176	p.Leu979Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121126426G>T	NCI-TCGA Cosmic
rs1022943830	p.Glu981Ter	stop gained	-	NC_000006.12:g.121126420C>A	TOPMed
rs768367191	p.Ser982Arg	missense variant	-	NC_000006.12:g.121126415G>C	ExAC,gnomAD
rs1011686211	p.Ser984Tyr	missense variant	-	NC_000006.12:g.121126410G>T	TOPMed,gnomAD
rs893182112	p.Glu985Ala	missense variant	-	NC_000006.12:g.121126407T>G	TOPMed
rs182549460	p.Cys986Arg	missense variant	-	NC_000006.12:g.121126405A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys986Ser	missense variant	-	NC_000006.12:g.121126404C>G	NCI-TCGA
rs779832131	p.Tyr987Ser	missense variant	-	NC_000006.12:g.121126401T>G	ExAC,TOPMed,gnomAD
rs779832131	p.Tyr987Cys	missense variant	-	NC_000006.12:g.121126401T>C	ExAC,TOPMed,gnomAD
rs1322389464	p.Phe988Leu	missense variant	-	NC_000006.12:g.121126399A>G	TOPMed
rs546076493	p.Glu992Lys	missense variant	-	NC_000006.12:g.121126387C>T	TOPMed,gnomAD
COSM1072755	p.Glu992Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121126387C>G	NCI-TCGA Cosmic
rs546076493	p.Glu992Ter	stop gained	-	NC_000006.12:g.121126387C>A	TOPMed,gnomAD
rs759423143	p.Tyr993Cys	missense variant	-	NC_000006.12:g.121126383T>C	ExAC,TOPMed,gnomAD
rs759423143	p.Tyr993Ser	missense variant	-	NC_000006.12:g.121126383T>G	ExAC,TOPMed,gnomAD
rs763851253	p.Thr994Ile	missense variant	-	NC_000006.12:g.121126380G>A	ExAC,TOPMed,gnomAD
rs762919498	p.Ala995Asp	missense variant	-	NC_000006.12:g.121115241G>T	ExAC,TOPMed,gnomAD
rs760928119	p.Ala995Thr	missense variant	-	NC_000006.12:g.121126378C>T	ExAC,gnomAD
rs773398928	p.Thr996Ala	missense variant	-	NC_000006.12:g.121115239T>C	ExAC,TOPMed,gnomAD
rs767335733	p.Asp997Tyr	missense variant	-	NC_000006.12:g.121115236C>A	TOPMed,gnomAD
rs1369169198	p.Asn999Lys	missense variant	-	NC_000006.12:g.121115228A>C	TOPMed
rs1395573427	p.Lys1001Arg	missense variant	-	NC_000006.12:g.121115223T>C	gnomAD
rs775205468	p.Asn1002Ser	missense variant	-	NC_000006.12:g.121115220T>C	ExAC,gnomAD
rs1433193861	p.Glu1003Lys	missense variant	-	NC_000006.12:g.121115218C>T	TOPMed,gnomAD
rs576633832	p.Glu1003Gly	missense variant	-	NC_000006.12:g.121115217T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1321726204	p.Ser1004Gly	missense variant	-	NC_000006.12:g.121115215T>C	gnomAD
COSM5091515	p.Leu1005PhePheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121115215_121115216TT>-	NCI-TCGA Cosmic
COSM3620034	p.Leu1005Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121115212G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser1006Ala	missense variant	-	NC_000006.12:g.121115209A>C	NCI-TCGA
rs745705955	p.Ser1007Phe	missense variant	-	NC_000006.12:g.121115205G>A	ExAC,TOPMed,gnomAD
rs1022502033	p.Val1008Gly	missense variant	-	NC_000006.12:g.121115202A>C	TOPMed,gnomAD
rs1022502033	p.Val1008Ala	missense variant	-	NC_000006.12:g.121115202A>G	TOPMed,gnomAD
rs1424865081	p.Val1008Met	missense variant	-	NC_000006.12:g.121115203C>T	gnomAD
rs774253203	p.Gln1009Pro	missense variant	-	NC_000006.12:g.121115199T>G	ExAC,gnomAD
rs1249677941	p.Gln1009His	missense variant	-	NC_000006.12:g.121115198C>A	TOPMed
rs1452269381	p.Gly1012Ser	missense variant	-	NC_000006.12:g.121115191C>T	TOPMed
rs761539336	p.Gly1012Val	missense variant	-	NC_000006.12:g.121115190C>A	ExAC,TOPMed,gnomAD
rs1486711306	p.Ile1013Thr	missense variant	-	NC_000006.12:g.121115187A>G	gnomAD
rs1486711306	p.Ile1013Ser	missense variant	-	NC_000006.12:g.121115187A>C	gnomAD
rs201909100	p.Ile1013Val	missense variant	-	NC_000006.12:g.121115188T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1263653516	p.Met1015Val	missense variant	-	NC_000006.12:g.121115182T>C	gnomAD
rs1244009991	p.Val1017Ala	missense variant	-	NC_000006.12:g.121115175A>G	gnomAD
rs778599694	p.Arg1018Ser	missense variant	-	NC_000006.12:g.121113177C>A	TOPMed
rs1167937267	p.Gly1020Cys	missense variant	-	NC_000006.12:g.121113173C>A	gnomAD
rs1463209065	p.Gly1020Val	missense variant	-	NC_000006.12:g.121113172C>A	gnomAD
rs1375498801	p.Lys1021Arg	missense variant	-	NC_000006.12:g.121113169T>C	gnomAD
COSM1440175	p.Phe1022SerPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121113166A>-	NCI-TCGA Cosmic
rs1197984247	p.Phe1022Val	missense variant	-	NC_000006.12:g.121113167A>C	gnomAD
rs373991419	p.Leu1025Phe	missense variant	-	NC_000006.12:g.121113158G>A	ESP,ExAC,TOPMed,gnomAD
rs1429260024	p.Asp1028Glu	missense variant	-	NC_000006.12:g.121113147A>T	TOPMed
rs1368629911	p.Asp1028Val	missense variant	-	NC_000006.12:g.121113148T>A	TOPMed
rs757341774	p.Gly1029Ser	missense variant	-	NC_000006.12:g.121113146C>T	ExAC
rs369614039	p.Ala1030Ser	missense variant	-	NC_000006.12:g.121113143C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1072754	p.Glu1031Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121113140C>A	NCI-TCGA Cosmic
rs1356541043	p.Glu1031Asp	missense variant	-	NC_000006.12:g.121113138T>G	TOPMed
rs764300555	p.Glu1031Gly	missense variant	-	NC_000006.12:g.121113139T>C	ExAC,gnomAD
rs376819254	p.Asp1033Val	missense variant	-	NC_000006.12:g.121113133T>A	ESP,ExAC,TOPMed,gnomAD
rs149431059	p.Asp1033Glu	missense variant	-	NC_000006.12:g.121113132A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376819254	p.Asp1033Gly	missense variant	-	NC_000006.12:g.121113133T>C	ESP,ExAC,TOPMed,gnomAD
rs1248616746	p.Leu1034Pro	missense variant	-	NC_000006.12:g.121113130A>G	TOPMed
rs766219933	p.Thr1035Ile	missense variant	-	NC_000006.12:g.121113127G>A	ExAC,TOPMed,gnomAD
rs766219933	p.Thr1035Ser	missense variant	-	NC_000006.12:g.121113127G>C	ExAC,TOPMed,gnomAD
rs773171737	p.Trp1036Ter	stop gained	-	NC_000006.12:g.121113124C>T	ExAC,gnomAD
rs762761578	p.Trp1036Arg	missense variant	-	NC_000006.12:g.121113125A>G	ExAC,gnomAD
rs1347739485	p.Val1037Ile	missense variant	-	NC_000006.12:g.121113122C>T	gnomAD
COSM1319160	p.Lys1039Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121113115T>C	NCI-TCGA Cosmic
rs1336806565	p.His1040Tyr	missense variant	-	NC_000006.12:g.121113113G>A	gnomAD
rs776347418	p.His1040Pro	missense variant	-	NC_000006.12:g.121113112T>G	ExAC,gnomAD
rs776347418	p.His1040Arg	missense variant	-	NC_000006.12:g.121113112T>C	ExAC,gnomAD
rs768356050	p.Cys1041Tyr	missense variant	-	NC_000006.12:g.121113109C>T	ExAC,TOPMed
rs768356050	p.Cys1041Phe	missense variant	-	NC_000006.12:g.121113109C>A	ExAC,TOPMed
rs746669245	p.Glu1042Lys	missense variant	-	NC_000006.12:g.121113107C>T	ExAC,gnomAD
rs746669245	p.Glu1042Gln	missense variant	-	NC_000006.12:g.121113107C>G	ExAC,gnomAD
rs780229548	p.Phe1044Ser	missense variant	-	NC_000006.12:g.121113100A>G	ExAC,TOPMed,gnomAD
rs951124843	p.Phe1044Ile	missense variant	-	NC_000006.12:g.121113101A>T	TOPMed
COSM4912086	p.Gln1048Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121113089G>A	NCI-TCGA Cosmic
rs1445089593	p.Thr1050Ala	missense variant	-	NC_000006.12:g.121113083T>C	TOPMed
NCI-TCGA novel	p.Ser1051Tyr	missense variant	-	NC_000006.12:g.121113079G>T	NCI-TCGA
rs1431785300	p.Ile1052Val	missense variant	-	NC_000006.12:g.121113077T>C	gnomAD
rs1469963924	p.Ile1052Thr	missense variant	-	NC_000006.12:g.121113076A>G	gnomAD
rs772514749	p.Lys1053Ter	stop gained	-	NC_000006.12:g.121113074T>A	ExAC,gnomAD
rs772514749	p.Lys1053Glu	missense variant	-	NC_000006.12:g.121113074T>C	ExAC,gnomAD
rs557939729	p.Ser1054Thr	missense variant	-	NC_000006.12:g.121113071A>T	1000Genomes,ExAC
rs1472227734	p.Ser1055Tyr	missense variant	-	NC_000006.12:g.121113067G>T	gnomAD
rs779465127	p.Leu1056Phe	missense variant	-	NC_000006.12:g.121113065G>A	ExAC,TOPMed,gnomAD
rs779465127	p.Leu1056Ile	missense variant	-	NC_000006.12:g.121113065G>T	ExAC,TOPMed,gnomAD
rs757831225	p.Leu1057Phe	missense variant	-	NC_000006.12:g.121113062G>A	ExAC,gnomAD
rs760360569	p.Leu1059Arg	missense variant	-	NC_000006.12:g.121112653A>C	ExAC,gnomAD
rs1184219344	p.Gln1060Ter	stop gained	-	NC_000006.12:g.121112651G>A	gnomAD
rs199671235	p.Gly1061Ala	missense variant	-	NC_000006.12:g.121112647C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1462826124	p.Gly1061Arg	missense variant	-	NC_000006.12:g.121112648C>T	gnomAD
NCI-TCGA novel	p.Gly1061Glu	missense variant	-	NC_000006.12:g.121112647C>T	NCI-TCGA
rs746242313	p.Asn1062Ser	missense variant	-	NC_000006.12:g.121112644T>C	ExAC,TOPMed,gnomAD
rs746242313	p.Asn1062Thr	missense variant	-	NC_000006.12:g.121112644T>G	ExAC,TOPMed,gnomAD
rs1054333876	p.Asn1062His	missense variant	-	NC_000006.12:g.121112645T>G	TOPMed
rs375947439	p.Ala1064Thr	missense variant	-	NC_000006.12:g.121112639C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1065Asp	missense variant	-	NC_000006.12:g.121112635C>T	NCI-TCGA
rs371460758	p.His1066Arg	missense variant	-	NC_000006.12:g.121112632T>C	ESP,ExAC,gnomAD
rs1338414112	p.Trp1068Cys	missense variant	-	NC_000006.12:g.121112625C>A	TOPMed
rs1246074652	p.Phe1069Leu	missense variant	-	NC_000006.12:g.121112624A>G	gnomAD
rs756157845	p.Val1070Ala	missense variant	-	NC_000006.12:g.121112620A>G	ExAC,gnomAD
rs1384620669	p.Val1070Leu	missense variant	-	NC_000006.12:g.121112621C>G	gnomAD
rs748226334	p.Ser1071Phe	missense variant	-	NC_000006.12:g.121112617G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1072Phe	missense variant	-	NC_000006.12:g.121112614G>A	NCI-TCGA
rs757208624	p.Met1075Val	missense variant	-	NC_000006.12:g.121112606T>C	ExAC,gnomAD
NCI-TCGA novel	p.Met1075Ile	missense variant	-	NC_000006.12:g.121112604C>A	NCI-TCGA
rs1446507526	p.Ile1076Thr	missense variant	-	NC_000006.12:g.121112602A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ile1076Ter	stop gained	-	NC_000006.12:g.121112603_121112604insACTTA	NCI-TCGA
rs528372763	p.Met1077Ile	missense variant	-	NC_000006.12:g.121112598C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs528372763	p.Met1077Ile	missense variant	-	NC_000006.12:g.121112598C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs764164450	p.Leu1078Ter	stop gained	-	NC_000006.12:g.121112596A>T	ExAC,gnomAD
rs1197715280	p.Gly1079Arg	missense variant	-	NC_000006.12:g.121112594C>T	TOPMed
NCI-TCGA novel	p.Lys1081Thr	missense variant	-	NC_000006.12:g.121112587T>G	NCI-TCGA
rs1219742721	p.Thr1084Ala	missense variant	-	NC_000006.12:g.121112579T>C	gnomAD
rs1254519873	p.Phe1085Leu	missense variant	-	NC_000006.12:g.121112576A>G	TOPMed
rs374536754	p.Phe1085Leu	missense variant	-	NC_000006.12:g.121112574G>T	ESP,gnomAD
rs760237654	p.Gln1086Arg	missense variant	-	NC_000006.12:g.121112572T>C	ExAC,gnomAD
rs560574202	p.Gln1086His	missense variant	-	NC_000006.12:g.121112571T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs199840167	p.Phe1087Leu	missense variant	-	NC_000006.12:g.121112568A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1213648784	p.Leu1088His	missense variant	-	NC_000006.12:g.121112566A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Leu1088Val	missense variant	-	NC_000006.12:g.121112567G>C	NCI-TCGA
rs1408694649	p.His1089Leu	missense variant	-	NC_000006.12:g.121112563T>A	TOPMed,gnomAD
rs774731973	p.Gln1090Ter	stop gained	-	NC_000006.12:g.121112561G>A	ExAC,gnomAD
COSM1072753	p.Phe1091Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121112556G>T	NCI-TCGA Cosmic
rs201382292	p.Arg1093Ser	missense variant	-	NC_000006.12:g.121112550C>A	ExAC,gnomAD
rs1344867814	p.Arg1093Thr	missense variant	-	NC_000006.12:g.121112551C>G	gnomAD
NCI-TCGA novel	p.Arg1093Met	missense variant	-	NC_000006.12:g.121112551C>A	NCI-TCGA
rs200575069	p.Leu1095Pro	missense variant	-	NC_000006.12:g.121112545A>G	1000Genomes
rs999332096	p.Thr1096Ser	missense variant	-	NC_000006.12:g.121112542G>C	TOPMed
rs749695630	p.Ala1098Ser	missense variant	-	NC_000006.12:g.121112537C>A	ExAC,TOPMed,gnomAD
rs749695630	p.Ala1098Thr	missense variant	-	NC_000006.12:g.121112537C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1100Phe	missense variant	-	NC_000006.12:g.121112531G>A	NCI-TCGA
rs1337653878	p.Trp1101Ter	stop gained	-	NC_000006.12:g.121112527C>T	gnomAD
rs770341437	p.Leu1102Trp	missense variant	-	NC_000006.12:g.121112524A>C	ExAC,gnomAD
rs748253784	p.Pro1103Leu	missense variant	-	NC_000006.12:g.121112521G>A	ExAC,gnomAD
rs182057696	p.Arg1104Thr	missense variant	-	NC_000006.12:g.121112518C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755170219	p.Leu1105Pro	missense variant	-	NC_000006.12:g.121112515A>G	ExAC,gnomAD
rs373972495	p.His1106Arg	missense variant	-	NC_000006.12:g.121112512T>C	ESP,ExAC,TOPMed,gnomAD
rs778807503	p.Ile1107Val	missense variant	-	NC_000006.12:g.121112510T>C	ExAC
rs757083944	p.Ser1108Phe	missense variant	-	NC_000006.12:g.121112506G>A	ExAC,TOPMed,gnomAD
rs1480659899	p.Ser1109Asn	missense variant	-	NC_000006.12:g.121106162C>T	gnomAD
rs1162675520	p.Tyr1110Ter	stop gained	-	NC_000006.12:g.121106158G>C	TOPMed
NCI-TCGA novel	p.Tyr1110Ter	stop gained	-	NC_000006.12:g.121106158_121106159insCTTAATGT	NCI-TCGA
rs1391524681	p.Leu1111Phe	missense variant	-	NC_000006.12:g.121106157G>A	TOPMed
rs747148711	p.Leu1111Arg	missense variant	-	NC_000006.12:g.121106156A>C	ExAC,gnomAD
rs777727212	p.Asn1113Asp	missense variant	-	NC_000006.12:g.121106151T>C	ExAC,gnomAD
rs1225111133	p.Asn1113Ile	missense variant	-	NC_000006.12:g.121106150T>A	gnomAD
rs777727212	p.Asn1113His	missense variant	-	NC_000006.12:g.121106151T>G	ExAC,gnomAD
rs752612084	p.Thr1115Ala	missense variant	-	NC_000006.12:g.121106145T>C	ExAC,gnomAD
COSM1072752	p.Glu1117Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121106139C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser1118Thr	missense variant	-	NC_000006.12:g.121106136A>T	NCI-TCGA
rs1375662511	p.Gly1119Asp	missense variant	-	NC_000006.12:g.121106132C>T	TOPMed,gnomAD
rs1375662511	p.Gly1119Val	missense variant	-	NC_000006.12:g.121106132C>A	TOPMed,gnomAD
rs754426012	p.Val1123Leu	missense variant	-	NC_000006.12:g.121106121C>A	ExAC,TOPMed,gnomAD
rs754426012	p.Val1123Ile	missense variant	-	NC_000006.12:g.121106121C>T	ExAC,TOPMed,gnomAD
rs575799780	p.Cys1126Phe	missense variant	-	NC_000006.12:g.121106111C>A	1000Genomes,ExAC,gnomAD
rs1482111312	p.Cys1126Arg	missense variant	-	NC_000006.12:g.121106112A>G	gnomAD
rs750727198	p.Thr1128Ala	missense variant	-	NC_000006.12:g.121106106T>C	ExAC,TOPMed,gnomAD
rs1252689142	p.His1129Arg	missense variant	-	NC_000006.12:g.121106102T>C	TOPMed,gnomAD
rs1283163454	p.Tyr1130Phe	missense variant	-	NC_000006.12:g.121106099T>A	TOPMed
NCI-TCGA novel	p.Tyr1130His	missense variant	-	NC_000006.12:g.121106100A>G	NCI-TCGA
rs1017804004	p.Ile1131Val	missense variant	-	NC_000006.12:g.121106097T>C	TOPMed
rs1160427319	p.Ile1131Thr	missense variant	-	NC_000006.12:g.121106096A>G	TOPMed,gnomAD
rs1421356186	p.Glu1132Ter	stop gained	-	NC_000006.12:g.121106094C>A	gnomAD
rs1271982673	p.Met1133Ile	missense variant	-	NC_000006.12:g.121106089C>T	TOPMed
COSM2156732	p.Lys1136Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121106082T>A	NCI-TCGA Cosmic
rs765542061	p.Ala1137Thr	missense variant	-	NC_000006.12:g.121106079C>T	ExAC,gnomAD
rs776968575	p.Glu1138Lys	missense variant	-	NC_000006.12:g.121106076C>T	ExAC,TOPMed,gnomAD
rs1205386375	p.Leu1139Trp	missense variant	-	NC_000006.12:g.121106072A>C	gnomAD
rs1205528627	p.Pro1140Ser	missense variant	-	NC_000006.12:g.121106070G>A	TOPMed
rs202106970	p.Val1142Leu	missense variant	-	NC_000006.12:g.121106064C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1259890893	p.Ser1144Ala	missense variant	-	NC_000006.12:g.121106058A>C	gnomAD
rs950969280	p.Ser1144Ter	stop gained	-	NC_000006.12:g.121106057G>C	gnomAD
rs950969280	p.Ser1144Leu	missense variant	-	NC_000006.12:g.121106057G>A	gnomAD
rs760655363	p.His1147Leu	missense variant	-	NC_000006.12:g.121106048T>A	ExAC,gnomAD
rs772366152	p.Met1148Val	missense variant	-	NC_000006.12:g.121106046T>C	ExAC,gnomAD
rs746118796	p.Met1148Ile	missense variant	-	NC_000006.12:g.121106044C>T	ExAC,TOPMed,gnomAD
rs777675910	p.Ser1149Phe	missense variant	-	NC_000006.12:g.121106042G>A	ExAC,gnomAD
rs1433399173	p.Ala1152Thr	missense variant	-	NC_000006.12:g.121106034C>T	gnomAD
rs1384737979	p.Ala1152Val	missense variant	-	NC_000006.12:g.121106033G>A	gnomAD
NCI-TCGA novel	p.Pro1153Gln	missense variant	-	NC_000006.12:g.121106030G>T	NCI-TCGA
COSM1072751	p.Ser1154Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121106028A>C	NCI-TCGA Cosmic
rs1166972364	p.Gln1155His	missense variant	-	NC_000006.12:g.121106023C>G	TOPMed
rs1369164391	p.Gln1155Ter	stop gained	-	NC_000006.12:g.121106025G>A	TOPMed
rs776487629	p.Ile1161Leu	missense variant	-	NC_000006.12:g.121091026T>A	ExAC,gnomAD
COSM3857937	p.Thr1162Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121091022G>A	NCI-TCGA Cosmic
rs1339046853	p.Cys1164Tyr	missense variant	-	NC_000006.12:g.121091016C>T	gnomAD
NCI-TCGA novel	p.Trp1166GlyPheSerTerUnk	frameshift	-	NC_000006.12:g.121091011A>-	NCI-TCGA
rs1230131624	p.Asp1170Tyr	missense variant	-	NC_000006.12:g.121090999C>A	TOPMed,gnomAD
rs746970154	p.Asp1170Glu	missense variant	-	NC_000006.12:g.121090997A>T	ExAC,gnomAD
rs1282987120	p.Trp1171Cys	missense variant	-	NC_000006.12:g.121090994C>A	gnomAD
rs994830643	p.Trp1171Ter	stop gained	-	NC_000006.12:g.121090995C>T	TOPMed
rs779498885	p.Ile1172Thr	missense variant	-	NC_000006.12:g.121090992A>G	ExAC,gnomAD
NCI-TCGA novel	p.Cys1175Phe	missense variant	-	NC_000006.12:g.121090983C>A	NCI-TCGA
rs757868336	p.His1176Arg	missense variant	-	NC_000006.12:g.121090980T>C	ExAC,TOPMed,gnomAD
rs1389157171	p.Ile1178Val	missense variant	-	NC_000006.12:g.121090975T>C	gnomAD
rs897389591	p.Thr1180Ala	missense variant	-	NC_000006.12:g.121090969T>C	TOPMed,gnomAD
rs118077502	p.Thr1180Ile	missense variant	-	NC_000006.12:g.121090968G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764544938	p.Cys1181Tyr	missense variant	-	NC_000006.12:g.121090965C>T	ExAC,gnomAD
rs1463162821	p.Cys1181Arg	missense variant	-	NC_000006.12:g.121090966A>G	gnomAD
rs1175370345	p.Phe1183Tyr	missense variant	-	NC_000006.12:g.121090959A>T	gnomAD
NCI-TCGA novel	p.Phe1183Leu	missense variant	-	NC_000006.12:g.121090960A>G	NCI-TCGA
rs999755951	p.Pro1186Thr	missense variant	-	NC_000006.12:g.121090951G>T	-
COSM268814	p.Asp1187Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121090947T>A	NCI-TCGA Cosmic
rs753228834	p.Asp1187Asn	missense variant	-	NC_000006.12:g.121090948C>T	ExAC,gnomAD
rs186680563	p.Gln1189Arg	missense variant	-	NC_000006.12:g.121090941T>C	1000Genomes,ExAC,gnomAD
rs1437284313	p.Val1190Leu	missense variant	-	NC_000006.12:g.121090939C>A	gnomAD
rs377128385	p.Tyr1191Cys	missense variant	-	NC_000006.12:g.121090935T>C	ESP,ExAC,TOPMed,gnomAD
rs552597781	p.Ile1192Ser	missense variant	-	NC_000006.12:g.121090932A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1164567807	p.Ile1192Met	missense variant	-	NC_000006.12:g.121090931G>C	TOPMed
rs1460106292	p.Val1196Ala	missense variant	-	NC_000006.12:g.121090920A>G	gnomAD
rs1224501224	p.Phe1197Cys	missense variant	-	NC_000006.12:g.121090917A>C	gnomAD
rs766446129	p.Phe1197Leu	missense variant	-	NC_000006.12:g.121090918A>G	ExAC,gnomAD
rs763248088	p.His1199Leu	missense variant	-	NC_000006.12:g.121090911T>A	ExAC,gnomAD
rs372829056	p.Leu1200Ser	missense variant	-	NC_000006.12:g.121090908A>G	ESP,TOPMed,gnomAD
rs1328888593	p.Gln1202Ter	stop gained	-	NC_000006.12:g.121090903G>A	gnomAD
rs1448546265	p.Ile1204Val	missense variant	-	NC_000006.12:g.121090897T>C	gnomAD
rs1403435593	p.Leu1205Pro	missense variant	-	NC_000006.12:g.121090893A>G	gnomAD
rs1335822652	p.Gln1206Ter	stop gained	-	NC_000006.12:g.121090891G>A	TOPMed
rs1470105093	p.Gln1209His	missense variant	-	NC_000006.12:g.121090880C>A	TOPMed,gnomAD
rs746846120	p.Asp1212Asn	missense variant	-	NC_000006.12:g.121090873C>T	ExAC,gnomAD
rs746846120	p.Asp1212Tyr	missense variant	-	NC_000006.12:g.121090873C>A	ExAC,gnomAD
rs1469524884	p.Asp1212Glu	missense variant	-	NC_000006.12:g.121090871A>C	gnomAD
rs1268503144	p.Asp1212Gly	missense variant	-	NC_000006.12:g.121090872T>C	TOPMed
rs369359139	p.Val1215Ile	missense variant	-	NC_000006.12:g.121090864C>T	ESP,ExAC,gnomAD
rs772052026	p.Phe1216Ser	missense variant	-	NC_000006.12:g.121090860A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala1221Ser	missense variant	-	NC_000006.12:g.121080884C>A	NCI-TCGA
rs1385569598	p.Leu1222Pro	missense variant	-	NC_000006.12:g.121080880A>G	TOPMed,gnomAD
rs1385569598	p.Leu1222Arg	missense variant	-	NC_000006.12:g.121080880A>C	TOPMed,gnomAD
rs200000443	p.His1223Tyr	missense variant	-	NC_000006.12:g.121080878G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1353651641	p.Arg1226Ter	stop gained	-	NC_000006.12:g.121080869G>A	TOPMed
rs1184473233	p.Val1227Leu	missense variant	-	NC_000006.12:g.121080866C>A	gnomAD
NCI-TCGA novel	p.Asp1229Gly	missense variant	-	NC_000006.12:g.121080859T>C	NCI-TCGA
NCI-TCGA novel	p.Glu1232Lys	missense variant	-	NC_000006.12:g.121080851C>T	NCI-TCGA
COSM6104752	p.Glu1232Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121080851C>G	NCI-TCGA Cosmic
rs56300302	p.Glu1232Ala	missense variant	-	NC_000006.12:g.121080850T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1286930246	p.Tyr1233Ser	missense variant	-	NC_000006.12:g.121080847T>G	gnomAD
rs201112310	p.Met1234Lys	missense variant	-	NC_000006.12:g.121080844A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1356685273	p.Met1234Val	missense variant	-	NC_000006.12:g.121080845T>C	gnomAD
rs770444598	p.Glu1238Gly	missense variant	-	NC_000006.12:g.121080832T>C	ExAC,gnomAD
rs1268273532	p.Asn1240Thr	missense variant	-	NC_000006.12:g.121080826T>G	gnomAD
rs748798523	p.Arg1242Ter	stop gained	-	NC_000006.12:g.121080821G>A	ExAC,gnomAD
rs1327000463	p.Thr1243Ala	missense variant	-	NC_000006.12:g.121080818T>C	gnomAD
rs1365059128	p.Asp1248Val	missense variant	-	NC_000006.12:g.121080802T>A	gnomAD
rs769641525	p.Asp1248Asn	missense variant	-	NC_000006.12:g.121080803C>T	ExAC,TOPMed,gnomAD
rs141535369	p.Arg1250Gln	missense variant	-	NC_000006.12:g.121080796C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs564250621	p.Arg1250Gly	missense variant	-	NC_000006.12:g.121080797G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs564250621	p.Arg1250Trp	missense variant	-	NC_000006.12:g.121080797G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs141535369	p.Arg1250Leu	missense variant	-	NC_000006.12:g.121080796C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780461716	p.Arg1253Gly	missense variant	-	NC_000006.12:g.121080788T>C	ExAC,gnomAD
rs1265748300	p.Arg1253Lys	missense variant	-	NC_000006.12:g.121080787C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gln1255His	missense variant	-	NC_000006.12:g.121080780C>G	NCI-TCGA
rs1197920229	p.Thr1257Ile	missense variant	-	NC_000006.12:g.121080775G>A	gnomAD
rs758477548	p.Ter1258Glu	stop lost	-	NC_000006.12:g.121080773A>C	ExAC,gnomAD
COSM79440	p.Ter1258LysGluUnkThrTerUnkUnk	stop lost	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121080773A>T	NCI-TCGA Cosmic
rs758477548	p.Ter1258Gln	stop lost	-	NC_000006.12:g.121080773A>G	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0220708	VATER Association	disease	MGD
C0311245	Congenital cystic kidney disease	disease	MGD
C0752166	Bardet-Biedl Syndrome	disease	MGD
C1415817	HETEROTAXY, VISCERAL, 2, AUTOSOMAL	disease	MGD
C1844020	HETEROTAXY, VISCERAL, 1, X-LINKED	disease	MGD
C1853444	Heterotaxy, Visceral, 3, Autosomal	disease	MGD
C3151057	HETEROTAXY, VISCERAL, 4, AUTOSOMAL	disease	MGD
C3151867	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED	disease	MGD
C3553676	HETEROTAXY, VISCERAL, 6, AUTOSOMAL	disease	MGD
C4277690	Ciliopathies	group	BEFREE;GENOMICS_ENGLAND

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence

GO:Biological Process

GO ID	GO Term	Evidence
GO:0002088	lens development in camera-type eye	IEA
GO:0003406	retinal pigment epithelium development	IEA
GO:0007368	determination of left/right symmetry	IEA
GO:0007507	heart development	IEA
GO:0042733	embryonic digit morphogenesis	IEA
GO:0060271	cilium assembly	IBA
GO:0060831	smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IEA
GO:0061512	protein localization to cilium	IEA
GO:1905515	non-motile cilium assembly	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005737	cytoplasm	IEA
GO:0005929	cilium	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
D020001	1-Butanol	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TBC1D32 mRNA	29432896
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of TBC1D32 mRNA	25510870
C081766	2,4,4'-trichlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of TBC1D32 mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of TBC1D32 mRNA	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of TBC1D32 mRNA	25510870
C009407	2,5,2',5'-tetrachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of TBC1D32 mRNA	25510870
C006780	bisphenol A	bisphenol A affects the methylation of TBC1D32 intron	30906313
C584509	C646 compound	C646 compound results in increased expression of TBC1D32 mRNA	26191083
D002392	Catechin	[Catechin co-treated with Grape Seed Proanthocyanidins] results in decreased expression of TBC1D32 mRNA	24763279
D002945	Cisplatin	Cisplatin results in decreased expression of TBC1D32 mRNA	27392435
D016572	Cyclosporine	Cyclosporine results in increased expression of TBC1D32 mRNA	20106945
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of TBC1D32 mRNA	22079256
D005557	Formaldehyde	Formaldehyde results in decreased expression of TBC1D32 mRNA	23649840
D005742	Gasoline	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TBC1D32 mRNA	29432896
D005742	Gasoline	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TBC1D32 mRNA	29432896
D005742	Gasoline	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TBC1D32 mRNA	29432896
C511402	Grape Seed Proanthocyanidins	[Catechin co-treated with Grape Seed Proanthocyanidins] results in decreased expression of TBC1D32 mRNA	24763279
D007213	Indomethacin	Indomethacin results in increased expression of TBC1D32 mRNA	28201806
C040507	isobutyl alcohol	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TBC1D32 mRNA	29432896
C544151	jinfukang	jinfukang results in decreased expression of TBC1D32 mRNA	27392435
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of TBC1D32 mRNA	23103053
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of TBC1D32 mRNA	28001369
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of TBC1D32 mRNA	26011545
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of TBC1D32 mRNA	23649840
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of TBC1D32 mRNA	25554681
D052638	Particulate Matter	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TBC1D32 mRNA	29432896
D052638	Particulate Matter	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TBC1D32 mRNA	29432896
D052638	Particulate Matter	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TBC1D32 mRNA	29432896
C410127	PCB 180	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of TBC1D32 mRNA	25510870
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TBC1D32 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TBC1D32 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of TBC1D32 mRNA	29432896
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of TBC1D32 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of TBC1D32 mRNA	22079256
C012589	trichostatin A	trichostatin A results in increased expression of TBC1D32 mRNA	24935251
D014635	Valproic Acid	Valproic Acid results in decreased expression of TBC1D32 mRNA	23179753; 24383497;
D014635	Valproic Acid	Valproic Acid results in increased expression of TBC1D32 mRNA	24935251
C025643	vinclozolin	vinclozolin results in increased expression of TBC1D32 mRNA	23034163

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0966	Cell projection
KW-0969	Cilium
KW-0963	Cytoplasm
KW-0217	Developmental protein
KW-0621	Polymorphism
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR032735	BROMI
IPR035969	Rab-GTPase_TBC_sf
IPR039156	UPF0183/BROMI

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF14961	BROMI

Gene: TBC1D32

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction