CleftGeneDB-Search

Gene: ARID5B

Basic information

Tag	Content
Uniprot ID	Q14865; B4DLB3; Q05DG6; Q32Q59; Q5VST4; Q6NZ42; Q7Z3M4; Q8N421; Q9H786;
Entrez ID	84159
Genbank protein ID	AAH66345.1; AAH15120.1; AAH36831.1; AAI07801.1; CAE46013.1; BAG59475.1; CAD97814.1; BAB15012.1; AAA59870.1;
Genbank nucleotide ID	NM_032199.2; NM_001244638.1;
Ensembl protein ID	ENSP00000279873; ENSP00000308862;
Ensembl nucleotide ID	ENSG00000150347
Gene name	AT-rich interactive domain-containing protein 5B
Gene symbol	ARID5B
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Transcription coactivator that binds to the 5'-AATA[CT]-3' core sequence and plays a key role in adipogenesis and liver development. Acts by forming a complex with phosphorylated PHF2, which mediates demethylation at Lys-336, leading to target the PHF2-ARID5B complex to target promoters, where PHF2 mediates demethylation of dimethylated 'Lys-9' of histone H3 (H3K9me2), followed by transcription activation of target genes. The PHF2-ARID5B complex acts as a coactivator of HNF4A in liver. Required for adipogenesis: regulates triglyceride metabolism in adipocytes by regulating expression of adipogenic genes. Overexpression leads to induction of smooth muscle marker genes, suggesting that it may also act as a regulator of smooth muscle cell differentiation and proliferation. Represses the cytomegalovirus enhancer.
Sequence	MEPNSLQWVG SPCGLHGPYI FYKAFQFHLE GKPRILSLGD FFFVRCTPKD PICIAELQLL 60 WEERTSRQLL SSSKLYFLPE DTPQGRNSDH GEDEVIAVSE KVIVKLEDLV KWVHSDFSKW 120 RCGFHAGPVK TEALGRNGQK EALLKYRQST LNSGLNFKDV LKEKADLGED EEETNVIVLS 180 YPQYCRYRSM LKRIQDKPSS ILTDQFALAL GGIAVVSRNP QILYCRDTFD HPTLIENESI 240 CDEFAPNLKG RPRKKKPCPQ RRDSFSGVKD SNNNSDGKAV AKVKCEARSA LTKPKNNHNC 300 KKVSNEEKPK VAIGEECRAD EQAFLVALYK YMKERKTPIE RIPYLGFKQI NLWTMFQAAQ 360 KLGGYETITA RRQWKHIYDE LGGNPGSTSA ATCTRRHYER LILPYERFIK GEEDKPLPPI 420 KPRKQENSSQ ENENKTKVSG TKRIKHEIPK SKKEKENAPK PQDAAEVSSE QEKEQETLIS 480 QKSIPEPLPA ADMKKKIEGY QEFSAKPLAS RVDPEKDNET DQGSNSEKVA EEAGEKGPTP 540 PLPSAPLAPE KDSALVPGAS KQPLTSPSAL VDSKQESKLC CFTESPESEP QEASFPSFPT 600 TQPPLANQNE TEDDKLPAMA DYIANCTVKV DQLGSDDIHN ALKQTPKVLV VQSFDMFKDK 660 DLTGPMNENH GLNYTPLLYS RGNPGIMSPL AKKKLLSQVS GASLSSSYPY GSPPPLISKK 720 KLIARDDLCS SLSQTHHGQS TDHMAVSRPS VIQHVQSFRS KPSEERKTIN DIFKHEKLSR 780 SDPHRCSFSK HHLNPLADSY VLKQEIQEGK DKLLEKRALP HSHMPSFLAD FYSSPHLHSL 840 YRHTEHHLHN EQTSKYPSRD MYRESENSSF PSHRHQEKLH VNYLTSLHLQ DKKSAAAEAP 900 TDDQPTDLSL PKNPHKPTGK VLGLAHSTTG PQESKGISQF QVLGSQSRDC HPKACRVSPM 960 TMSGPKKYPE SLSRSGKPHH VRLENFRKME GMVHPILHRK MSPQNIGAAR PIKRSLEDLD 1020 LVIAGKKARA VSPLDPSKEV SGKEKASEQE SEGSKAAHGG HSGGGSEGHK LPLSSPIFPG 1080 LYSGSLCNSG LNSRLPAGYS HSLQYLKNQT VLSPLMQPLA FHSLVMQRGI FTSPTNSQQL 1140 YRHLAAATPV GSSYGDLLHN SIYPLAAINP QAAFPSSQLS SVHPSTKL 1188

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
1IG6
2OEH

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	ARID5B	479217	J9NV13		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	ARID5B	102169735	A0A452F8Y8		Capra hircus	Prediction	More>>
1:1 ortholog	ARID5B	84159	Q14865		Homo sapiens	Prediction	More>>
1:1 ortholog	Arid5b	71371	Q8BM75	CPO	Mus musculus	Publication	More>>
1:1 ortholog	ARID5B	745725	K7DSK8		Pan troglodytes	Prediction	More>>
1:1 ortholog	ARID5B	100352095	G1U8W9		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	arid5b		E7F888		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs144290238	p.Glu2Lys	missense variant	-	NC_000010.11:g.61901713G>A	ESP,TOPMed,gnomAD
rs144290238	p.Glu2Gln	missense variant	-	NC_000010.11:g.61901713G>C	ESP,TOPMed,gnomAD
rs140010870	p.Glu2Asp	missense variant	-	NC_000010.11:g.61901715G>T	NCI-TCGA,NCI-TCGA Cosmic
rs140010870	p.Glu2Asp	missense variant	-	NC_000010.11:g.61901715G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs189036287	p.Pro3Ala	missense variant	-	NC_000010.11:g.61901716C>G	1000Genomes
rs762663091	p.Pro3Leu	missense variant	-	NC_000010.11:g.61901717C>T	ExAC,gnomAD
rs766062378	p.Asn4Ser	missense variant	-	NC_000010.11:g.61901720A>G	ExAC,TOPMed
rs1328941922	p.Asn4Asp	missense variant	-	NC_000010.11:g.61901719A>G	TOPMed
NCI-TCGA novel	p.Asn4Thr	missense variant	-	NC_000010.11:g.61901720A>C	NCI-TCGA
rs1328574590	p.Leu6Pro	missense variant	-	NC_000010.11:g.61901726T>C	TOPMed,gnomAD
rs756054366	p.Val9Phe	missense variant	-	NC_000010.11:g.61902162G>T	ExAC,gnomAD
rs777591474	p.Gly10Ser	missense variant	-	NC_000010.11:g.61902165G>A	ExAC,TOPMed,gnomAD
rs777591474	p.Gly10Arg	missense variant	-	NC_000010.11:g.61902165G>C	ExAC,TOPMed,gnomAD
rs749069080	p.Pro12Ser	missense variant	-	NC_000010.11:g.61902171C>T	ExAC,gnomAD
rs1336394649	p.Pro12Gln	missense variant	-	NC_000010.11:g.61902172C>A	TOPMed,gnomAD
rs1336394649	p.Pro12Leu	missense variant	-	NC_000010.11:g.61902172C>T	TOPMed,gnomAD
rs1472043964	p.Cys13Tyr	missense variant	-	NC_000010.11:g.61902175G>A	gnomAD
rs1313253636	p.Cys13Arg	missense variant	-	NC_000010.11:g.61902174T>C	TOPMed
COSM919359	p.Leu15Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.61902181T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.His16Tyr	missense variant	-	NC_000010.11:g.61902183C>T	NCI-TCGA
COSM3867579	p.Tyr22Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.61902202A>T	NCI-TCGA Cosmic
COSM919360	p.Ala24Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.61902208C>A	NCI-TCGA Cosmic
rs773931184	p.Ala24Gly	missense variant	-	NC_000010.11:g.61902208C>G	ExAC,gnomAD
rs1272298687	p.Gln26His	missense variant	-	NC_000010.11:g.61902215A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gln26SerPheSerTerUnk	frameshift	-	NC_000010.11:g.61902208_61902209insT	NCI-TCGA
rs202030299	p.Phe27Val	missense variant	-	NC_000010.11:g.61902216T>G	1000Genomes,TOPMed,gnomAD
rs202030299	p.Phe27Ile	missense variant	-	NC_000010.11:g.61902216T>A	1000Genomes,TOPMed,gnomAD
rs202030299	p.Phe27Leu	missense variant	-	NC_000010.11:g.61902216T>C	1000Genomes,TOPMed,gnomAD
rs1390468768	p.Leu29Pro	missense variant	-	NC_000010.11:g.61902223T>C	TOPMed
NCI-TCGA novel	p.Glu30Val	missense variant	-	NC_000010.11:g.61902226A>T	NCI-TCGA
COSM427744	p.Arg34PhePheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.61902236_61902239AAGA>-	NCI-TCGA Cosmic
COSM1183595	p.Arg34Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.61902238G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg34Lys	missense variant	-	NC_000010.11:g.61902238G>A	NCI-TCGA
NCI-TCGA novel	p.Arg34Ser	missense variant	-	NC_000010.11:g.61902239A>C	NCI-TCGA
rs1436671098	p.Leu38Pro	missense variant	-	NC_000010.11:g.61902250T>C	gnomAD
rs1179582480	p.Gly39Ser	missense variant	-	NC_000010.11:g.61902252G>A	TOPMed,gnomAD
COSM1348516	p.Cys46Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.61902275T>A	NCI-TCGA Cosmic
rs1053149301	p.Cys46Tyr	missense variant	-	NC_000010.11:g.61902274G>A	TOPMed
rs1053149301	p.Cys46Phe	missense variant	-	NC_000010.11:g.61902274G>T	TOPMed
rs143621450	p.Thr47Lys	missense variant	-	NC_000010.11:g.61902277C>A	ESP,ExAC,TOPMed,gnomAD
rs371476471	p.Lys49Glu	missense variant	-	NC_000010.11:g.61902282A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys49Asn	missense variant	-	NC_000010.11:g.61902284G>T	NCI-TCGA
rs765711052	p.Ile52Asn	missense variant	-	NC_000010.11:g.61902292T>A	ExAC,gnomAD
rs765711052	p.Ile52Thr	missense variant	-	NC_000010.11:g.61902292T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln58Ter	stop gained	-	NC_000010.11:g.61902309C>T	NCI-TCGA
NCI-TCGA novel	p.Gln58His	missense variant	-	NC_000010.11:g.61902311G>T	NCI-TCGA
rs750884076	p.Arg64Lys	missense variant	-	NC_000010.11:g.61902328G>A	ExAC,gnomAD
rs758661473	p.Thr65Pro	missense variant	-	NC_000010.11:g.61902330A>C	ExAC,gnomAD
rs61743705	p.Ser66Thr	missense variant	-	NC_000010.11:g.61902334G>C	TOPMed
rs61743705	p.Ser66Ile	missense variant	-	NC_000010.11:g.61902334G>T	TOPMed
rs1311792241	p.Ser71Thr	missense variant	-	NC_000010.11:g.61902348T>A	gnomAD
rs374710079	p.Ser72Cys	missense variant	-	NC_000010.11:g.61902351A>T	ESP
rs1319655437	p.Ser73Cys	missense variant	-	NC_000010.11:g.61902355C>G	gnomAD
rs766556983	p.Leu75Phe	missense variant	-	NC_000010.11:g.61902360C>T	ExAC,gnomAD
COSM919361	p.Asp81Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.61902378G>T	NCI-TCGA Cosmic
rs1258994700	p.Gly85Ala	missense variant	-	NC_000010.11:g.61902391G>C	gnomAD
NCI-TCGA novel	p.Asn87Tyr	missense variant	-	NC_000010.11:g.61902396A>T	NCI-TCGA
rs964962818	p.Ser88Arg	missense variant	-	NC_000010.11:g.61902401C>A	gnomAD
rs755042248	p.Asp89Gly	missense variant	-	NC_000010.11:g.61902403A>G	ExAC,gnomAD
rs763340073	p.Ile96Leu	missense variant	-	NC_000010.11:g.61940192A>C	ExAC,gnomAD
rs1423129750	p.Glu100Lys	missense variant	-	NC_000010.11:g.61940204G>A	TOPMed,gnomAD
rs759668203	p.Ile103Thr	missense variant	-	NC_000010.11:g.61940214T>C	ExAC,gnomAD
rs767824699	p.Glu107Gly	missense variant	-	NC_000010.11:g.61940226A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp108Tyr	missense variant	-	NC_000010.11:g.61940228G>T	NCI-TCGA
rs1455393290	p.Val110Ile	missense variant	-	NC_000010.11:g.61940234G>A	gnomAD
rs75646870	p.Lys111Asn	missense variant	-	NC_000010.11:g.61940239G>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp112Gly	missense variant	-	NC_000010.11:g.61940240T>G	NCI-TCGA
rs1435659549	p.Val113Ala	missense variant	-	NC_000010.11:g.61940244T>C	gnomAD
rs760770011	p.Val113Leu	missense variant	-	NC_000010.11:g.61940243G>T	ExAC,TOPMed,gnomAD
rs760770011	p.Val113Leu	missense variant	-	NC_000010.11:g.61940243G>C	ExAC,TOPMed,gnomAD
rs1374823266	p.His114Tyr	missense variant	-	NC_000010.11:g.61940246C>T	TOPMed,gnomAD
rs765121514	p.His114Arg	missense variant	-	NC_000010.11:g.61940247A>G	ExAC,TOPMed,gnomAD
rs200756363	p.His114Gln	missense variant	-	NC_000010.11:g.61940248T>G	ESP,ExAC,TOPMed,gnomAD
rs1374823266	p.His114Asp	missense variant	-	NC_000010.11:g.61940246C>G	TOPMed,gnomAD
rs765121514	p.His114Pro	missense variant	-	NC_000010.11:g.61940247A>C	ExAC,TOPMed,gnomAD
rs1328907240	p.Ser115Phe	missense variant	-	NC_000010.11:g.61940250C>T	gnomAD
rs758155912	p.Cys122Tyr	missense variant	-	NC_000010.11:g.61940271G>A	ExAC,gnomAD
rs1227010944	p.Cys122Gly	missense variant	-	NC_000010.11:g.61940270T>G	TOPMed,gnomAD
rs1383005171	p.His125Tyr	missense variant	-	NC_000010.11:g.61940279C>T	NCI-TCGA Cosmic
rs1383005171	p.His125Tyr	missense variant	-	NC_000010.11:g.61940279C>T	TOPMed
rs191606705	p.Ala126Thr	missense variant	-	NC_000010.11:g.61940282G>A	NCI-TCGA Cosmic
rs191606705	p.Ala126Ser	missense variant	-	NC_000010.11:g.61940282G>T	1000Genomes,TOPMed,gnomAD
rs191606705	p.Ala126Thr	missense variant	-	NC_000010.11:g.61940282G>A	1000Genomes,TOPMed,gnomAD
rs1481632794	p.Gly127Arg	missense variant	-	NC_000010.11:g.61940285G>A	gnomAD
rs1411430312	p.Lys130Thr	missense variant	-	NC_000010.11:g.61940295A>C	gnomAD
rs1471732928	p.Thr131Ile	missense variant	-	NC_000010.11:g.61940298C>T	gnomAD
rs1414210136	p.Ala133Gly	missense variant	-	NC_000010.11:g.61940304C>G	gnomAD
rs1166908296	p.Ala133Thr	missense variant	-	NC_000010.11:g.61940303G>A	gnomAD
rs1404722747	p.Gly135Arg	missense variant	-	NC_000010.11:g.61940309G>A	gnomAD
rs1355781913	p.Asn137Asp	missense variant	-	NC_000010.11:g.61940315A>G	gnomAD
rs1395285453	p.Gly138Arg	missense variant	-	NC_000010.11:g.61940318G>A	TOPMed
rs150284163	p.Glu141Ala	missense variant	-	NC_000010.11:g.61940328A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs959498702	p.Lys145Thr	missense variant	-	NC_000010.11:g.61940340A>C	TOPMed
rs1416217803	p.Tyr146Ser	missense variant	-	NC_000010.11:g.61940343A>C	TOPMed,gnomAD
rs142921832	p.Arg147Lys	missense variant	-	NC_000010.11:g.61940346G>A	ESP,ExAC,TOPMed,gnomAD
rs1357449702	p.Gln148Leu	missense variant	-	NC_000010.11:g.61940349A>T	gnomAD
rs778364076	p.Thr150Ala	missense variant	-	NC_000010.11:g.61940354A>G	ExAC,gnomAD
rs749741986	p.Leu151Arg	missense variant	-	NC_000010.11:g.61940358T>G	ExAC,gnomAD
rs749741986	p.Leu151Gln	missense variant	-	NC_000010.11:g.61940358T>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu151ValPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.61940353_61940359AACCCTA>-	NCI-TCGA
rs1206047372	p.Ser153Asn	missense variant	-	NC_000010.11:g.61940364G>A	gnomAD
rs771531834	p.Ser153Gly	missense variant	-	NC_000010.11:g.61940363A>G	ExAC,TOPMed,gnomAD
rs774544271	p.Gly154Ala	missense variant	-	NC_000010.11:g.61940367G>C	ExAC,gnomAD
rs1251156741	p.Gly154Arg	missense variant	-	NC_000010.11:g.61940366G>A	gnomAD
rs766929055	p.Leu155Pro	missense variant	-	NC_000010.11:g.61940370T>C	ExAC,TOPMed,gnomAD
rs775723099	p.Lys158Arg	missense variant	-	NC_000010.11:g.61940379A>G	ExAC,gnomAD
rs550591609	p.Val160Ile	missense variant	-	NC_000010.11:g.61940384G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs550591609	p.Val160Ile	missense variant	-	NC_000010.11:g.61940384G>A	NCI-TCGA
rs762796068	p.Glu163Gln	missense variant	-	NC_000010.11:g.61940393G>C	ExAC,gnomAD
rs1368129255	p.Lys164Glu	missense variant	-	NC_000010.11:g.61940396A>G	gnomAD
rs1236257436	p.Ala165Val	missense variant	-	NC_000010.11:g.61940400C>T	gnomAD
rs1337944296	p.Gly168Arg	missense variant	-	NC_000010.11:g.61940408G>A	TOPMed
rs146727947	p.Glu169Asp	missense variant	-	NC_000010.11:g.62000095G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu172Lys	missense variant	-	NC_000010.11:g.62000102G>A	NCI-TCGA
rs1438016192	p.Thr174Ala	missense variant	-	NC_000010.11:g.62000108A>G	gnomAD
rs766186442	p.Thr174Met	missense variant	-	NC_000010.11:g.62000109C>T	ExAC,gnomAD
rs774347986	p.Asn175Lys	missense variant	-	NC_000010.11:g.62000113C>A	ExAC,gnomAD
rs774347986	p.Asn175Lys	missense variant	-	NC_000010.11:g.62000113C>G	ExAC,gnomAD
rs141049493	p.Val176Met	missense variant	-	NC_000010.11:g.62000114G>A	ESP,ExAC,TOPMed,gnomAD
rs141049493	p.Val176Leu	missense variant	-	NC_000010.11:g.62000114G>T	ESP,ExAC,TOPMed,gnomAD
rs1199032356	p.Val178Phe	missense variant	-	NC_000010.11:g.62000120G>T	gnomAD
COSM4015025	p.Arg186Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62000144C>T	NCI-TCGA Cosmic
rs753241704	p.Arg188His	missense variant	-	NC_000010.11:g.62000151G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser189Trp	missense variant	-	NC_000010.11:g.62000154C>G	NCI-TCGA
COSM684764	p.Ile194Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62000170C>G	NCI-TCGA Cosmic
rs1320295439	p.Asp196Gly	missense variant	-	NC_000010.11:g.62000175A>G	gnomAD
rs1387167632	p.Lys197Asn	missense variant	-	NC_000010.11:g.62000179G>T	gnomAD
rs779223910	p.Pro198Ala	missense variant	-	NC_000010.11:g.62000180C>G	ExAC,gnomAD
rs746403761	p.Ser199Thr	missense variant	-	NC_000010.11:g.62000183T>A	ExAC,gnomAD
rs758963278	p.Leu202Val	missense variant	-	NC_000010.11:g.62000192C>G	ExAC,gnomAD
rs747413904	p.Thr203Met	missense variant	-	NC_000010.11:g.62000196C>T	NCI-TCGA,NCI-TCGA Cosmic
rs747413904	p.Thr203Met	missense variant	-	NC_000010.11:g.62000196C>T	ExAC,gnomAD
rs781507927	p.Asp204Tyr	missense variant	-	NC_000010.11:g.62000198G>T	ExAC,gnomAD
rs1227632411	p.Asp204Glu	missense variant	-	NC_000010.11:g.62000200C>A	gnomAD
NCI-TCGA novel	p.Asp204AsnPheSerTerUnk	stop gained	-	NC_000010.11:g.62000196_62000197insAAATGAGCACAAAATAAAGTGA	NCI-TCGA
NCI-TCGA novel	p.Asp204Val	missense variant	-	NC_000010.11:g.62000199A>T	NCI-TCGA
rs748109683	p.Gln205His	missense variant	-	NC_000010.11:g.62000203G>C	ExAC,gnomAD
rs1210330333	p.Ala207Val	missense variant	-	NC_000010.11:g.62000208C>T	TOPMed,gnomAD
rs543501415	p.Ala207Thr	missense variant	-	NC_000010.11:g.62000207G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs202022815	p.Gly212Ser	missense variant	-	NC_000010.11:g.62000222G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM1474695	p.Arg218Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62000240A>T	NCI-TCGA Cosmic
rs1391718140	p.Arg218Gly	missense variant	-	NC_000010.11:g.62000240A>G	TOPMed
rs775399612	p.Asn219Ser	missense variant	-	NC_000010.11:g.62000244A>G	ExAC,gnomAD
rs1166230083	p.Pro220Ser	missense variant	-	NC_000010.11:g.62000246C>T	TOPMed,gnomAD
COSM919364	p.Gln221His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62000251G>T	NCI-TCGA Cosmic
rs990119259	p.Arg226Gln	missense variant	-	NC_000010.11:g.62000265G>A	TOPMed
rs1410727401	p.Thr228Ile	missense variant	-	NC_000010.11:g.62000271C>T	gnomAD
rs1164294509	p.Pro232Leu	missense variant	-	NC_000010.11:g.62000283C>T	gnomAD
NCI-TCGA novel	p.Thr233Asn	missense variant	-	NC_000010.11:g.62000286C>A	NCI-TCGA
rs1016216781	p.Ile235Thr	missense variant	-	NC_000010.11:g.62000292T>C	TOPMed
rs201273744	p.Ile235Leu	missense variant	-	NC_000010.11:g.62000291A>T	1000Genomes,ExAC,gnomAD
rs963038555	p.Glu238Lys	missense variant	-	NC_000010.11:g.62000300G>A	gnomAD
rs963038555	p.Glu238Lys	missense variant	-	NC_000010.11:g.62000300G>A	NCI-TCGA Cosmic
COSM4930939	p.Ser239Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62000303A>G	NCI-TCGA Cosmic
rs758871463	p.Ser239Arg	missense variant	-	NC_000010.11:g.62000305T>G	ExAC,gnomAD
rs1286274022	p.Ile240Val	missense variant	-	NC_000010.11:g.62000306A>G	gnomAD
rs751880754	p.Asp242Asn	missense variant	-	NC_000010.11:g.62000312G>A	ExAC,gnomAD
COSM919367	p.Asn247His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62050893A>C	NCI-TCGA Cosmic
rs753041204	p.Asn247Asp	missense variant	-	NC_000010.11:g.62050893A>G	ExAC,gnomAD
COSM4845793	p.Leu248Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62050896C>T	NCI-TCGA Cosmic
rs918933657	p.Gly250Val	missense variant	-	NC_000010.11:g.62050903G>T	TOPMed
rs1460224385	p.Pro252Leu	missense variant	-	NC_000010.11:g.62050909C>T	gnomAD
COSM3782547	p.Arg253Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62050911C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg253His	missense variant	-	NC_000010.11:g.62050912G>A	NCI-TCGA
rs1464829578	p.Lys255Asn	missense variant	-	NC_000010.11:g.62050919G>T	gnomAD
rs1389404891	p.Lys256Thr	missense variant	-	NC_000010.11:g.62050921A>C	TOPMed
rs1427315274	p.Pro257Gln	missense variant	-	NC_000010.11:g.62050924C>A	gnomAD
rs780084801	p.Cys258Tyr	missense variant	-	NC_000010.11:g.62050927G>A	ExAC,TOPMed,gnomAD
rs146939872	p.Cys258Gly	missense variant	-	NC_000010.11:g.62050926T>G	ESP,ExAC,TOPMed,gnomAD
rs746932853	p.Pro259Ser	missense variant	-	NC_000010.11:g.62050929C>T	ExAC,gnomAD
rs927711471	p.Gln260His	missense variant	-	NC_000010.11:g.62050934A>C	TOPMed
COSM6130255	p.Arg261Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62050936G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg262Lys	missense variant	-	NC_000010.11:g.62050939G>A	NCI-TCGA
rs768544889	p.Asp263Val	missense variant	-	NC_000010.11:g.62050942A>T	ExAC,gnomAD
rs768544889	p.Asp263Gly	missense variant	-	NC_000010.11:g.62050942A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser264Ter	stop gained	-	NC_000010.11:g.62050945C>A	NCI-TCGA
rs776458295	p.Ser266Gly	missense variant	-	NC_000010.11:g.62050950A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser266Cys	missense variant	-	NC_000010.11:g.62050950A>T	NCI-TCGA
rs1161419516	p.Gly267Asp	missense variant	-	NC_000010.11:g.62050954G>A	TOPMed
rs138196909	p.Gly267Ser	missense variant	-	NC_000010.11:g.62050953G>A	ESP
rs1294819188	p.Val268Ile	missense variant	-	NC_000010.11:g.62050956G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Lys269Asn	missense variant	-	NC_000010.11:g.62050961G>T	NCI-TCGA
rs769439880	p.Ser271Cys	missense variant	-	NC_000010.11:g.62050966C>G	ExAC
rs762391579	p.Asn274Ser	missense variant	-	NC_000010.11:g.62050975A>G	ExAC,TOPMed,gnomAD
rs201704836	p.Asp276Tyr	missense variant	-	NC_000010.11:g.62050980G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201704836	p.Asp276Asn	missense variant	-	NC_000010.11:g.62050980G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1213978548	p.Asp276Glu	missense variant	-	NC_000010.11:g.62050982T>A	gnomAD
rs201704836	p.Asp276Asn	missense variant	-	NC_000010.11:g.62050980G>A	NCI-TCGA
rs760053508	p.Gly277Asp	missense variant	-	NC_000010.11:g.62050984G>A	ExAC,TOPMed,gnomAD
rs760053508	p.Gly277Val	missense variant	-	NC_000010.11:g.62050984G>T	ExAC,TOPMed,gnomAD
rs143185576	p.Val280Ile	missense variant	-	NC_000010.11:g.62050992G>A	ESP,ExAC,TOPMed,gnomAD
rs143185576	p.Val280Leu	missense variant	-	NC_000010.11:g.62050992G>C	ESP,ExAC,TOPMed,gnomAD
rs764348201	p.Val280Ala	missense variant	-	NC_000010.11:g.62050993T>C	ExAC,TOPMed,gnomAD
rs539001526	p.Val283Leu	missense variant	-	NC_000010.11:g.62057117G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1229321841	p.Lys284Glu	missense variant	-	NC_000010.11:g.62057120A>G	gnomAD
rs1432454262	p.Ala290Thr	missense variant	-	NC_000010.11:g.62057138G>A	TOPMed
rs751699693	p.Leu291Phe	missense variant	-	NC_000010.11:g.62057143G>T	ExAC
rs756022924	p.Pro294Leu	missense variant	-	NC_000010.11:g.62057151C>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys295Asn	missense variant	-	NC_000010.11:g.62057155G>T	NCI-TCGA
NCI-TCGA novel	p.Lys295Asn	missense variant	-	NC_000010.11:g.62057155G>C	NCI-TCGA
rs757046793	p.His298Tyr	missense variant	-	NC_000010.11:g.62057162C>T	ExAC,TOPMed,gnomAD
rs1207007361	p.His298Arg	missense variant	-	NC_000010.11:g.62057163A>G	TOPMed
rs199741541	p.Lys301Glu	missense variant	-	NC_000010.11:g.62057171A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs771828291	p.Val303Asp	missense variant	-	NC_000010.11:g.62057178T>A	ExAC,gnomAD
rs1284254136	p.Ser304Ala	missense variant	-	NC_000010.11:g.62057180T>G	NCI-TCGA Cosmic
rs1284254136	p.Ser304Ala	missense variant	-	NC_000010.11:g.62057180T>G	TOPMed
rs1237314520	p.Asn305Ser	missense variant	-	NC_000010.11:g.62057184A>G	gnomAD
rs779403852	p.Ala312Asp	missense variant	-	NC_000010.11:g.62057205C>A	ExAC,gnomAD
rs779403852	p.Ala312Gly	missense variant	-	NC_000010.11:g.62057205C>G	ExAC,gnomAD
rs1426332952	p.Ala312Ser	missense variant	-	NC_000010.11:g.62057204G>T	gnomAD
rs1335141232	p.Ile313Thr	missense variant	-	NC_000010.11:g.62057208T>C	gnomAD
rs1329917328	p.Gly314Asp	missense variant	-	NC_000010.11:g.62057211G>A	TOPMed
COSM919370	p.Glu316Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62057218G>C	NCI-TCGA Cosmic
rs746567135	p.Cys317Arg	missense variant	-	NC_000010.11:g.62057219T>C	ExAC,gnomAD
rs1383454029	p.Gln322Lys	missense variant	-	NC_000010.11:g.62057234C>A	TOPMed
rs770268976	p.Leu325Phe	missense variant	-	NC_000010.11:g.62057245G>T	ExAC,gnomAD
rs1319495347	p.Ala327Glu	missense variant	-	NC_000010.11:g.62057250C>A	TOPMed
rs1365260841	p.Ala327Thr	missense variant	-	NC_000010.11:g.62057249G>A	TOPMed
COSM4927662	p.Met332Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62057265T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg335Lys	missense variant	-	NC_000010.11:g.62057274G>A	NCI-TCGA
rs1269760932	p.Thr337Met	missense variant	-	NC_000010.11:g.62057280C>T	TOPMed,gnomAD
rs1269760932	p.Thr337Met	missense variant	-	NC_000010.11:g.62057280C>T	NCI-TCGA Cosmic
rs1262932042	p.Pro338Gln	missense variant	-	NC_000010.11:g.62057283C>A	TOPMed,gnomAD
COSM256346	p.Ile339Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62057285A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu340Ter	stop gained	-	NC_000010.11:g.62057288G>T	NCI-TCGA
rs763950577	p.Tyr344Ser	missense variant	-	NC_000010.11:g.62057301A>C	ExAC,gnomAD
rs753784702	p.Lys348Arg	missense variant	-	NC_000010.11:g.62057313A>G	ExAC,gnomAD
COSM3439484	p.Asn351Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62059245A>T	NCI-TCGA Cosmic
rs1209980300	p.Gly363Glu	missense variant	-	NC_000010.11:g.62059282G>A	gnomAD
rs1288506020	p.Glu366Gly	missense variant	-	NC_000010.11:g.62059291A>G	gnomAD
rs1206856276	p.Arg371His	missense variant	-	NC_000010.11:g.62069710G>A	gnomAD
rs1001964542	p.Arg371Cys	missense variant	-	NC_000010.11:g.62069709C>T	gnomAD
rs1274987213	p.Arg372Cys	missense variant	-	NC_000010.11:g.62069712C>T	gnomAD
rs1274987213	p.Arg372Cys	missense variant	-	NC_000010.11:g.62069712C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg372His	missense variant	-	NC_000010.11:g.62069713G>A	NCI-TCGA
rs569211514	p.Gln373Glu	missense variant	-	NC_000010.11:g.62069715C>G	1000Genomes,ExAC,gnomAD
COSM919372	p.Glu380Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62069736G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly382Asp	missense variant	-	NC_000010.11:g.62069743G>A	NCI-TCGA
rs529464997	p.Gly383Ser	missense variant	-	NC_000010.11:g.62069745G>A	ExAC,gnomAD
rs1170562366	p.Ser387Gly	missense variant	-	NC_000010.11:g.62069757A>G	gnomAD
rs1170562366	p.Ser387Gly	missense variant	-	NC_000010.11:g.62069757A>G	NCI-TCGA
rs756529242	p.Ala390Pro	missense variant	-	NC_000010.11:g.62069766G>C	ExAC,gnomAD
NCI-TCGA novel	p.Arg395His	missense variant	-	NC_000010.11:g.62069782G>A	NCI-TCGA
NCI-TCGA novel	p.His397Arg	missense variant	-	NC_000010.11:g.62069788A>G	NCI-TCGA
COSM414991	p.Tyr398Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62069791A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile402Asn	missense variant	-	NC_000010.11:g.62085707T>A	NCI-TCGA
rs1262889155	p.Pro418His	missense variant	-	NC_000010.11:g.62085755C>A	gnomAD
rs1187049639	p.Ile420Val	missense variant	-	NC_000010.11:g.62085760A>G	NCI-TCGA Cosmic
rs1187049639	p.Ile420Val	missense variant	-	NC_000010.11:g.62085760A>G	TOPMed
rs1322089786	p.Pro422Ala	missense variant	-	NC_000010.11:g.62085766C>G	gnomAD
NCI-TCGA novel	p.Pro422His	missense variant	-	NC_000010.11:g.62085767C>A	NCI-TCGA
rs993996582	p.Arg423Trp	missense variant	-	NC_000010.11:g.62085769C>T	TOPMed,gnomAD
rs771981107	p.Arg423Gln	missense variant	-	NC_000010.11:g.62085770G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Arg423GlyPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.62085769C>-	NCI-TCGA
NCI-TCGA novel	p.Lys424AsnPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.62085772A>-	NCI-TCGA
COSM919374	p.Ser428ValPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62085784A>-	NCI-TCGA Cosmic
rs780286785	p.Ser428Gly	missense variant	-	NC_000010.11:g.62085784A>G	ExAC,gnomAD
rs146085530	p.Ser428Arg	missense variant	-	NC_000010.11:g.62085786T>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln430ArgPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.62085791A>-	NCI-TCGA
NCI-TCGA novel	p.Asn432MetPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.62085794A>-	NCI-TCGA
NCI-TCGA novel	p.Asn432Thr	missense variant	-	NC_000010.11:g.62085797A>C	NCI-TCGA
rs768796045	p.Glu433Asp	missense variant	-	NC_000010.11:g.62085801G>C	ExAC,gnomAD
rs925557862	p.Gly440Ala	missense variant	-	NC_000010.11:g.62085821G>C	TOPMed
rs140096631	p.Thr441Asn	missense variant	-	NC_000010.11:g.62085824C>A	ESP,ExAC,TOPMed,gnomAD
rs140096631	p.Thr441Ile	missense variant	-	NC_000010.11:g.62085824C>T	ESP,ExAC,TOPMed,gnomAD
COSM919375	p.Lys442AsnPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62085826A>-	NCI-TCGA Cosmic
rs774238244	p.Arg443Cys	missense variant	-	NC_000010.11:g.62085829C>T	ExAC,gnomAD
rs759435915	p.Arg443Leu	missense variant	-	NC_000010.11:g.62085830G>T	ExAC,TOPMed,gnomAD
rs759435915	p.Arg443His	missense variant	-	NC_000010.11:g.62085830G>A	ExAC,TOPMed,gnomAD
rs1353076977	p.Ile444Thr	missense variant	-	NC_000010.11:g.62085833T>C	TOPMed
rs141951633	p.Ile444Val	missense variant	-	NC_000010.11:g.62085832A>G	ESP,ExAC,TOPMed,gnomAD
COSM919378	p.Lys445LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62085834_62085846CAAACATGAAATA>-	NCI-TCGA Cosmic
COSM919377	p.His446AlaPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62085833_62085848TCAAACATGAAATACC>-	NCI-TCGA Cosmic
COSM919376	p.His446GlnPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62085831_62085832insATCAAACA	NCI-TCGA Cosmic
rs141586900	p.His446Tyr	missense variant	-	NC_000010.11:g.62085838C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs760299705	p.His446Arg	missense variant	-	NC_000010.11:g.62085839A>G	ExAC,gnomAD
rs1409997584	p.Ile448Thr	missense variant	-	NC_000010.11:g.62085845T>C	TOPMed
rs1285653221	p.Ile448Met	missense variant	-	NC_000010.11:g.62085846A>G	gnomAD
rs370282102	p.Pro449Ser	missense variant	-	NC_000010.11:g.62085847C>T	ESP,ExAC,TOPMed,gnomAD
rs1352309345	p.Ser451Asn	missense variant	-	NC_000010.11:g.62085854G>A	gnomAD
rs1213791416	p.Lys452Asn	missense variant	-	NC_000010.11:g.62085858G>T	gnomAD
rs1267266872	p.Lys453Gln	missense variant	-	NC_000010.11:g.62085859A>C	gnomAD
COSM919380	p.Glu454Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62085862G>T	NCI-TCGA Cosmic
rs988588958	p.Glu454Gly	missense variant	-	NC_000010.11:g.62085863A>G	TOPMed,gnomAD
rs757763429	p.Glu454Lys	missense variant	-	NC_000010.11:g.62085862G>A	NCI-TCGA
rs757763429	p.Glu454Lys	missense variant	-	NC_000010.11:g.62085862G>A	ExAC,gnomAD
COSM4838761	p.Glu456Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62085868G>T	NCI-TCGA Cosmic
COSM919379	p.Glu456LysPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62085858_62085859insAAAGA	NCI-TCGA Cosmic
rs1198909219	p.Glu456Gln	missense variant	-	NC_000010.11:g.62085868G>C	gnomAD
NCI-TCGA novel	p.Glu456MetPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.62085865_62085868AAAG>-	NCI-TCGA
rs1266527085	p.Asn457Tyr	missense variant	-	NC_000010.11:g.62085871A>T	gnomAD
rs779422998	p.Asn457Ser	missense variant	-	NC_000010.11:g.62085872A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn457MetPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.62085869A>-	NCI-TCGA
NCI-TCGA novel	p.Pro459GlnPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.62085875C>-	NCI-TCGA
COSM1561272	p.Pro461Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62085883C>T	NCI-TCGA Cosmic
rs750749732	p.Ala464Val	missense variant	-	NC_000010.11:g.62085893C>T	ExAC,TOPMed,gnomAD
rs780193092	p.Ala465Ser	missense variant	-	NC_000010.11:g.62085895G>T	ExAC,gnomAD
rs1474170939	p.Glu466Lys	missense variant	-	NC_000010.11:g.62085898G>A	TOPMed
rs1410164367	p.Ser468Pro	missense variant	-	NC_000010.11:g.62090865T>C	gnomAD
rs1426993023	p.Ser468Leu	missense variant	-	NC_000010.11:g.62090866C>T	TOPMed
rs1329998518	p.Glu474Val	missense variant	-	NC_000010.11:g.62090884A>T	gnomAD
rs781300442	p.Glu474Asp	missense variant	-	NC_000010.11:g.62090885A>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu474Ter	stop gained	-	NC_000010.11:g.62090883G>T	NCI-TCGA
rs1050761731	p.Glu476Lys	missense variant	-	NC_000010.11:g.62090889G>A	TOPMed
NCI-TCGA novel	p.Glu476Asp	missense variant	-	NC_000010.11:g.62090891G>T	NCI-TCGA
rs1305050148	p.Thr477Ile	missense variant	-	NC_000010.11:g.62090893C>T	gnomAD
rs912069856	p.Thr477Ser	missense variant	-	NC_000010.11:g.62090892A>T	TOPMed
rs41274054	p.Ser480Thr	missense variant	-	NC_000010.11:g.62090902G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs41274054	p.Ser480Asn	missense variant	-	NC_000010.11:g.62090902G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1183443990	p.Ser483Ile	missense variant	-	NC_000010.11:g.62090911G>T	TOPMed
rs745793211	p.Pro485Ala	missense variant	-	NC_000010.11:g.62090916C>G	ExAC,TOPMed,gnomAD
rs1294917292	p.Pro485Leu	missense variant	-	NC_000010.11:g.62090917C>T	gnomAD
rs566668263	p.Pro487His	missense variant	-	NC_000010.11:g.62090923C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs566668263	p.Pro487Leu	missense variant	-	NC_000010.11:g.62090923C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM3439486	p.Leu488Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62090925C>T	NCI-TCGA Cosmic
rs1215333084	p.Pro489Ser	missense variant	-	NC_000010.11:g.62090928C>T	gnomAD
rs1305479241	p.Ala491Val	missense variant	-	NC_000010.11:g.62090935C>T	gnomAD
rs1208948143	p.Asp492Glu	missense variant	-	NC_000010.11:g.62090939C>A	TOPMed
rs768317898	p.Met493Lys	missense variant	-	NC_000010.11:g.62090941T>A	ExAC,gnomAD
rs1460795394	p.Lys494Asn	missense variant	-	NC_000010.11:g.62090945G>T	gnomAD
NCI-TCGA novel	p.Lys494ArgPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.62090935_62090936insAGACATG	NCI-TCGA
rs1181272872	p.Lys495Glu	missense variant	-	NC_000010.11:g.62090946A>G	gnomAD
rs1249294114	p.Ile497Thr	missense variant	-	NC_000010.11:g.62090953T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ile497Ter	frameshift	-	NC_000010.11:g.62090946A>-	NCI-TCGA
NCI-TCGA novel	p.Ile497LysPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.62090953T>-	NCI-TCGA
NCI-TCGA novel	p.Ile497AsnPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.62090945_62090946insA	NCI-TCGA
COSM69717	p.Glu498Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62090956A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu498Ter	frameshift	-	NC_000010.11:g.62090951_62090952insAT	NCI-TCGA
rs139520430	p.Gly499Arg	missense variant	-	NC_000010.11:g.62090958G>C	ESP,ExAC,TOPMed,gnomAD
rs761256488	p.Gly499Glu	missense variant	-	NC_000010.11:g.62090959G>A	ExAC,gnomAD
rs1252045617	p.Tyr500Cys	missense variant	-	NC_000010.11:g.62090962A>G	TOPMed,gnomAD
rs149466999	p.Ala505Val	missense variant	-	NC_000010.11:g.62090977C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1385453183	p.Lys506Glu	missense variant	-	NC_000010.11:g.62090979A>G	TOPMed
NCI-TCGA novel	p.Pro507Ser	missense variant	-	NC_000010.11:g.62090982C>T	NCI-TCGA
COSM4916429	p.Arg511Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62090994A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg511SerPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.62090994_62090995AG>-	NCI-TCGA
rs751911768	p.Val512Gly	missense variant	-	NC_000010.11:g.62090998T>G	ExAC,gnomAD
COSM919382	p.Val512GluPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62090992_62091002CCAGAGTAGAC>-	NCI-TCGA Cosmic
rs200787076	p.Val512Ile	missense variant	-	NC_000010.11:g.62090997G>A	ExAC,TOPMed,gnomAD
COSM6130253	p.Pro514Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091003C>A	NCI-TCGA Cosmic
rs555707909	p.Pro514Ser	missense variant	-	NC_000010.11:g.62091003C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1454640587	p.Asp517Gly	missense variant	-	NC_000010.11:g.62091013A>G	gnomAD
rs374377066	p.Glu519Lys	missense variant	-	NC_000010.11:g.62091018G>A	ESP,ExAC,TOPMed,gnomAD
rs374377066	p.Glu519Lys	missense variant	-	NC_000010.11:g.62091018G>A	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr520Lys	missense variant	-	NC_000010.11:g.62091022C>A	NCI-TCGA
NCI-TCGA novel	p.Thr520Ala	missense variant	-	NC_000010.11:g.62091021A>G	NCI-TCGA
rs1269895188	p.Asp521Glu	missense variant	-	NC_000010.11:g.62091026C>G	gnomAD
COSM919384	p.Gln522Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62091027C>T	NCI-TCGA Cosmic
rs1337695432	p.Gly523Val	missense variant	-	NC_000010.11:g.62091031G>T	gnomAD
rs537465187	p.Ser524Cys	missense variant	-	NC_000010.11:g.62091034C>G	1000Genomes,ExAC,gnomAD
rs537465187	p.Ser524Phe	missense variant	-	NC_000010.11:g.62091034C>T	1000Genomes,ExAC,gnomAD
rs537465187	p.Ser524Phe	missense variant	-	NC_000010.11:g.62091034C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1417332918	p.Lys528Glu	missense variant	-	NC_000010.11:g.62091045A>G	gnomAD
rs1322761667	p.Ala530Val	missense variant	-	NC_000010.11:g.62091052C>T	TOPMed,gnomAD
rs779891226	p.Glu531Lys	missense variant	-	NC_000010.11:g.62091054G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu531Gln	missense variant	-	NC_000010.11:g.62091054G>C	NCI-TCGA
COSM6066703	p.Glu532Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62091057G>T	NCI-TCGA Cosmic
rs1191829426	p.Ala533Thr	missense variant	-	NC_000010.11:g.62091060G>A	gnomAD
rs746755575	p.Ala533Val	missense variant	-	NC_000010.11:g.62091061C>T	ExAC,TOPMed,gnomAD
rs1049293397	p.Gly537Arg	missense variant	-	NC_000010.11:g.62091072G>C	TOPMed
rs148762493	p.Gly537Glu	missense variant	-	NC_000010.11:g.62091073G>A	ESP,ExAC,TOPMed,gnomAD
rs148762493	p.Gly537Ala	missense variant	-	NC_000010.11:g.62091073G>C	ESP,ExAC,TOPMed,gnomAD
rs747795902	p.Pro540Leu	missense variant	-	NC_000010.11:g.62091082C>T	ExAC,gnomAD
rs747795902	p.Pro540Arg	missense variant	-	NC_000010.11:g.62091082C>G	ExAC,gnomAD
rs1174816191	p.Pro541Ser	missense variant	-	NC_000010.11:g.62091084C>T	gnomAD
COSM919385	p.Leu542ProPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62091085_62091086CA>-	NCI-TCGA Cosmic
rs772658120	p.Leu542Ile	missense variant	-	NC_000010.11:g.62091087C>A	ExAC,TOPMed,gnomAD
rs200031871	p.Leu542Pro	missense variant	-	NC_000010.11:g.62091088T>C	ExAC,TOPMed,gnomAD
rs1317694270	p.Pro543Ala	missense variant	-	NC_000010.11:g.62091090C>G	TOPMed,gnomAD
rs1317694270	p.Pro543Ser	missense variant	-	NC_000010.11:g.62091090C>T	TOPMed,gnomAD
rs1231598137	p.Pro543Gln	missense variant	-	NC_000010.11:g.62091091C>A	TOPMed
rs1324959279	p.Ser544Asn	missense variant	-	NC_000010.11:g.62091094G>A	TOPMed,gnomAD
rs1324959279	p.Ser544Ile	missense variant	-	NC_000010.11:g.62091094G>T	TOPMed,gnomAD
rs1328589418	p.Ser544Gly	missense variant	-	NC_000010.11:g.62091093A>G	TOPMed
rs1387003279	p.Pro546Leu	missense variant	-	NC_000010.11:g.62091100C>T	TOPMed
rs971439856	p.Pro546Ser	missense variant	-	NC_000010.11:g.62091099C>T	TOPMed
NCI-TCGA novel	p.Leu547Val	missense variant	-	NC_000010.11:g.62091102C>G	NCI-TCGA
COSM919386	p.Glu550Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62091111G>T	NCI-TCGA Cosmic
rs1318032963	p.Glu550Gly	missense variant	-	NC_000010.11:g.62091112A>G	TOPMed
rs771401194	p.Lys551Arg	missense variant	-	NC_000010.11:g.62091115A>G	ExAC,gnomAD
rs771401194	p.Lys551Ile	missense variant	-	NC_000010.11:g.62091115A>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser553Ter	stop gained	-	NC_000010.11:g.62091121C>G	NCI-TCGA
rs774734058	p.Leu555Phe	missense variant	-	NC_000010.11:g.62091128G>C	ExAC,TOPMed,gnomAD
rs760147233	p.Val556Asp	missense variant	-	NC_000010.11:g.62091130T>A	ExAC,gnomAD
rs1429613954	p.Ala559Asp	missense variant	-	NC_000010.11:g.62091139C>A	TOPMed
NCI-TCGA novel	p.Ser560GlnPheSerTerUnk	frameshift	-	NC_000010.11:g.62091138_62091139insC	NCI-TCGA
COSM3790870	p.Thr565Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091157C>T	NCI-TCGA Cosmic
rs201106060	p.Ser568Thr	missense variant	-	NC_000010.11:g.62091166G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370284541	p.Ala569Val	missense variant	-	NC_000010.11:g.62091169C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu570Met	missense variant	-	NC_000010.11:g.62091171C>A	NCI-TCGA
rs760955271	p.Val571Glu	missense variant	-	NC_000010.11:g.62091175T>A	ExAC,TOPMed,gnomAD
rs1397207881	p.Asp572Asn	missense variant	-	NC_000010.11:g.62091177G>A	gnomAD
rs753930933	p.Gln575Arg	missense variant	-	NC_000010.11:g.62091187A>G	ExAC,gnomAD
COSM1245469	p.Glu576Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62091189G>T	NCI-TCGA Cosmic
COSM3439491	p.Ser577Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091193C>T	NCI-TCGA Cosmic
rs142418662	p.Lys578Ile	missense variant	-	NC_000010.11:g.62091196A>T	ESP,ExAC,TOPMed,gnomAD
rs142418662	p.Lys578Arg	missense variant	-	NC_000010.11:g.62091196A>G	ESP,ExAC,TOPMed,gnomAD
rs779984640	p.Leu579Pro	missense variant	-	NC_000010.11:g.62091199T>C	ExAC,gnomAD
rs755012949	p.Cys581Ser	missense variant	-	NC_000010.11:g.62091205G>C	ExAC,TOPMed,gnomAD
rs1158094414	p.Cys581Arg	missense variant	-	NC_000010.11:g.62091204T>C	gnomAD
rs755012949	p.Cys581Tyr	missense variant	-	NC_000010.11:g.62091205G>A	ExAC,TOPMed,gnomAD
rs1426793103	p.Glu584Gln	missense variant	-	NC_000010.11:g.62091213G>C	gnomAD
rs577699742	p.Ser585Arg	missense variant	-	NC_000010.11:g.62091218C>A	1000Genomes,ExAC,gnomAD
COSM4895953	p.Pro586Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091220C>T	NCI-TCGA Cosmic
rs1360498816	p.Ser588Arg	missense variant	-	NC_000010.11:g.62091227T>G	gnomAD
rs747988567	p.Ser588Gly	missense variant	-	NC_000010.11:g.62091225A>G	ExAC,TOPMed,gnomAD
rs769394319	p.Pro590Ser	missense variant	-	NC_000010.11:g.62091231C>T	ExAC,TOPMed,gnomAD
rs1198969767	p.Gln591Ter	stop gained	-	NC_000010.11:g.62091234C>T	TOPMed
COSM3439493	p.Pro596Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091250C>T	NCI-TCGA Cosmic
rs748734611	p.Pro596His	missense variant	-	NC_000010.11:g.62091250C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser597AlaPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.62091248C>-	NCI-TCGA
rs1363718766	p.Phe598Leu	missense variant	-	NC_000010.11:g.62091257C>A	TOPMed
rs773977577	p.Phe598Ser	missense variant	-	NC_000010.11:g.62091256T>C	ExAC,gnomAD
rs759927800	p.Pro599Leu	missense variant	-	NC_000010.11:g.62091259C>T	ExAC,TOPMed,gnomAD
rs1317749926	p.Pro599Ala	missense variant	-	NC_000010.11:g.62091258C>G	TOPMed
NCI-TCGA novel	p.Gln602His	missense variant	-	NC_000010.11:g.62091269G>T	NCI-TCGA
rs202205668	p.Pro604Leu	missense variant	-	NC_000010.11:g.62091274C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1362151707	p.Ala606Glu	missense variant	-	NC_000010.11:g.62091280C>A	gnomAD
rs1169060487	p.Asn607Lys	missense variant	-	NC_000010.11:g.62091284C>G	TOPMed
rs764346224	p.Asn607Ile	missense variant	-	NC_000010.11:g.62091283A>T	ExAC,TOPMed,gnomAD
rs764346224	p.Asn607Ser	missense variant	-	NC_000010.11:g.62091283A>G	ExAC,TOPMed,gnomAD
rs117757404	p.Thr611Met	missense variant	-	NC_000010.11:g.62091295C>T	1000Genomes,ESP,TOPMed
rs762157955	p.Asp613Asn	missense variant	-	NC_000010.11:g.62091300G>A	ExAC,TOPMed,gnomAD
rs1422950738	p.Asp614Tyr	missense variant	-	NC_000010.11:g.62091303G>T	gnomAD
rs143074852	p.Ala618Thr	missense variant	-	NC_000010.11:g.62091315G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781136944	p.Met619Lys	missense variant	-	NC_000010.11:g.62091319T>A	ExAC,TOPMed,gnomAD
rs781136944	p.Met619Thr	missense variant	-	NC_000010.11:g.62091319T>C	ExAC,TOPMed,gnomAD
rs754851401	p.Met619Val	missense variant	-	NC_000010.11:g.62091318A>G	ExAC,gnomAD
NCI-TCGA novel	p.Tyr622Asp	missense variant	-	NC_000010.11:g.62091327T>G	NCI-TCGA
rs1452811831	p.Ile623Val	missense variant	-	NC_000010.11:g.62091330A>G	gnomAD
rs148232588	p.Val628Met	missense variant	-	NC_000010.11:g.62091345G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM919388	p.Lys629Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091350G>T	NCI-TCGA Cosmic
rs1229112171	p.Lys629Thr	missense variant	-	NC_000010.11:g.62091349A>C	TOPMed,gnomAD
rs1195576419	p.Ser635Arg	missense variant	-	NC_000010.11:g.62091366A>C	gnomAD
rs1249119567	p.Ser635Thr	missense variant	-	NC_000010.11:g.62091367G>C	gnomAD
rs778262915	p.Asp637Tyr	missense variant	-	NC_000010.11:g.62091372G>T	ExAC,TOPMed,gnomAD
rs778262915	p.Asp637Asn	missense variant	-	NC_000010.11:g.62091372G>A	ExAC,TOPMed,gnomAD
rs150157555	p.Asn640Ser	missense variant	-	NC_000010.11:g.62091382A>G	ESP,ExAC,TOPMed,gnomAD
COSM1348520	p.Ala641Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091384G>A	NCI-TCGA Cosmic
rs772420176	p.Ala641Val	missense variant	-	NC_000010.11:g.62091385C>T	ExAC,TOPMed,gnomAD
rs747321081	p.Thr645Ile	missense variant	-	NC_000010.11:g.62091397C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu649Phe	missense variant	-	NC_000010.11:g.62091408C>T	NCI-TCGA
rs1408278304	p.Gln652His	missense variant	-	NC_000010.11:g.62091419G>C	gnomAD
NCI-TCGA novel	p.Ser653Leu	missense variant	-	NC_000010.11:g.62091421C>T	NCI-TCGA
rs761913705	p.Phe654Leu	missense variant	-	NC_000010.11:g.62091425T>A	ExAC,gnomAD
COSM919389	p.Phe657Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091433T>A	NCI-TCGA Cosmic
rs1405883740	p.Asp659Asn	missense variant	-	NC_000010.11:g.62091438G>A	TOPMed
rs763096135	p.Asp661Glu	missense variant	-	NC_000010.11:g.62091446C>A	ExAC,gnomAD
rs767381955	p.Gly664Glu	missense variant	-	NC_000010.11:g.62091454G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly664Val	missense variant	-	NC_000010.11:g.62091454G>T	NCI-TCGA
COSM465827	p.Asn667His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091462A>C	NCI-TCGA Cosmic
rs1326309906	p.Asn667Ile	missense variant	-	NC_000010.11:g.62091463A>T	gnomAD
rs1262593085	p.Glu668Lys	missense variant	-	NC_000010.11:g.62091465G>A	TOPMed,gnomAD
rs1262593085	p.Glu668Lys	missense variant	-	NC_000010.11:g.62091465G>A	NCI-TCGA
rs1271514044	p.His670Tyr	missense variant	-	NC_000010.11:g.62091471C>T	TOPMed
rs1223600151	p.Leu672His	missense variant	-	NC_000010.11:g.62091478T>A	TOPMed
rs1188342486	p.Leu672Phe	missense variant	-	NC_000010.11:g.62091477C>T	gnomAD
rs141236035	p.Thr675Met	missense variant	-	NC_000010.11:g.62091487C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1262770252	p.Thr675Ala	missense variant	-	NC_000010.11:g.62091486A>G	gnomAD
rs141236035	p.Thr675Lys	missense variant	-	NC_000010.11:g.62091487C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM268709	p.Leu678Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091495C>A	NCI-TCGA Cosmic
rs1418166275	p.Leu678Pro	missense variant	-	NC_000010.11:g.62091496T>C	gnomAD
rs371998179	p.Leu678Phe	missense variant	-	NC_000010.11:g.62091495C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr679Cys	missense variant	-	NC_000010.11:g.62091499A>G	NCI-TCGA
rs757997426	p.Ser680Phe	missense variant	-	NC_000010.11:g.62091502C>T	ExAC,gnomAD
rs145498621	p.Asn683Thr	missense variant	-	NC_000010.11:g.62091511A>C	ExAC
COSM4015028	p.Met687Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091522A>G	NCI-TCGA Cosmic
COSM4915047	p.Ser688Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091525T>C	NCI-TCGA Cosmic
rs138864995	p.Leu695Val	missense variant	-	NC_000010.11:g.62091546C>G	gnomAD
NCI-TCGA novel	p.Leu695Pro	missense variant	-	NC_000010.11:g.62091547T>C	NCI-TCGA
COSM1348522	p.Ser697Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091552T>C	NCI-TCGA Cosmic
rs747517577	p.Ser700Arg	missense variant	-	NC_000010.11:g.62091563T>G	ExAC,gnomAD
rs776841458	p.Ala702Pro	missense variant	-	NC_000010.11:g.62091567G>C	ExAC,gnomAD
rs1276732650	p.Ala702Val	missense variant	-	NC_000010.11:g.62091568C>T	gnomAD
rs1276732650	p.Ala702Asp	missense variant	-	NC_000010.11:g.62091568C>A	gnomAD
rs1318095895	p.Ser703Gly	missense variant	-	NC_000010.11:g.62091570A>G	gnomAD
NCI-TCGA novel	p.Ser703Ile	missense variant	-	NC_000010.11:g.62091571G>T	NCI-TCGA
rs769838092	p.Ser705Tyr	missense variant	-	NC_000010.11:g.62091577C>A	ExAC,TOPMed,gnomAD
rs183477532	p.Pro709Leu	missense variant	-	NC_000010.11:g.62091589C>T	1000Genomes
rs1310948086	p.Pro709Ser	missense variant	-	NC_000010.11:g.62091588C>T	gnomAD
rs1218083945	p.Pro713Leu	missense variant	-	NC_000010.11:g.62091601C>T	gnomAD
rs1485685267	p.Pro714Ser	missense variant	-	NC_000010.11:g.62091603C>T	gnomAD
rs141997585	p.Pro715Ser	missense variant	-	NC_000010.11:g.62091606C>T	ESP,ExAC,TOPMed,gnomAD
rs141997585	p.Pro715Ala	missense variant	-	NC_000010.11:g.62091606C>G	ESP,ExAC,TOPMed,gnomAD
rs141997585	p.Pro715Thr	missense variant	-	NC_000010.11:g.62091606C>A	ESP,ExAC,TOPMed,gnomAD
rs757082098	p.Leu716Phe	missense variant	-	NC_000010.11:g.62091611G>T	ExAC
rs764739348	p.Ile717Phe	missense variant	-	NC_000010.11:g.62091612A>T	ExAC,gnomAD
rs764739348	p.Ile717Val	missense variant	-	NC_000010.11:g.62091612A>G	ExAC,gnomAD
rs764739348	p.Ile717Val	missense variant	-	NC_000010.11:g.62091612A>G	NCI-TCGA Cosmic
rs779683944	p.Ala724Ser	missense variant	-	NC_000010.11:g.62091633G>T	ExAC,gnomAD
COSM1474696	p.Arg725Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091638G>C	NCI-TCGA Cosmic
rs751168331	p.Arg725Thr	missense variant	-	NC_000010.11:g.62091637G>C	ExAC,gnomAD
rs146336312	p.Asp726Glu	missense variant	-	NC_000010.11:g.62091641T>A	ESP,ExAC,TOPMed,gnomAD
rs986410430	p.Asp727Asn	missense variant	-	NC_000010.11:g.62091642G>A	TOPMed
rs781739297	p.Leu728Phe	missense variant	-	NC_000010.11:g.62091647G>C	ExAC,gnomAD
rs748401789	p.Ser730Cys	missense variant	-	NC_000010.11:g.62091652C>G	ExAC
rs1304519097	p.Ser731Thr	missense variant	-	NC_000010.11:g.62091655G>C	gnomAD
rs770178655	p.Gln734Glu	missense variant	-	NC_000010.11:g.62091663C>G	ExAC,gnomAD
rs963756003	p.Gly738Ser	missense variant	-	NC_000010.11:g.62091675G>A	TOPMed,gnomAD
rs1488348953	p.Thr741Ala	missense variant	-	NC_000010.11:g.62091684A>G	TOPMed
rs749477102	p.Asp742Glu	missense variant	-	NC_000010.11:g.62091689C>A	ExAC,gnomAD
COSM919390	p.Met744Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091694T>G	NCI-TCGA Cosmic
rs141852562	p.Met744Thr	missense variant	-	NC_000010.11:g.62091694T>C	ESP,ExAC,TOPMed,gnomAD
rs1307807670	p.Met744Val	missense variant	-	NC_000010.11:g.62091693A>G	gnomAD
rs201542647	p.Ala745Val	missense variant	-	NC_000010.11:g.62091697C>T	ESP,ExAC,TOPMed,gnomAD
rs1221532128	p.Ser747Arg	missense variant	-	NC_000010.11:g.62091704C>A	gnomAD
rs1490566120	p.Ser747Asn	missense variant	-	NC_000010.11:g.62091703G>A	gnomAD
rs1490566120	p.Ser747Thr	missense variant	-	NC_000010.11:g.62091703G>C	gnomAD
rs1481593361	p.Arg748Gln	missense variant	-	NC_000010.11:g.62091706G>A	NCI-TCGA
rs1481593361	p.Arg748Gln	missense variant	-	NC_000010.11:g.62091706G>A	gnomAD
rs1244714524	p.Arg748Trp	missense variant	-	NC_000010.11:g.62091705C>T	TOPMed,gnomAD
COSM919392	p.His754GlnPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62091725C>-	NCI-TCGA Cosmic
rs750226503	p.Val755Ile	missense variant	-	NC_000010.11:g.62091726G>A	ExAC,TOPMed,gnomAD
rs750226503	p.Val755Ile	missense variant	-	NC_000010.11:g.62091726G>A	NCI-TCGA,NCI-TCGA Cosmic
rs374187162	p.Gln756Arg	missense variant	-	NC_000010.11:g.62091730A>G	ESP,ExAC,TOPMed,gnomAD
rs374187162	p.Gln756Pro	missense variant	-	NC_000010.11:g.62091730A>C	ESP,ExAC,TOPMed,gnomAD
rs1423576796	p.Ser757Gly	missense variant	-	NC_000010.11:g.62091732A>G	gnomAD
NCI-TCGA novel	p.Ser760Ile	missense variant	-	NC_000010.11:g.62091742G>T	NCI-TCGA
rs766155061	p.Ser763Trp	missense variant	-	NC_000010.11:g.62091751C>G	ExAC,TOPMed,gnomAD
rs766155061	p.Ser763Leu	missense variant	-	NC_000010.11:g.62091751C>T	ExAC,TOPMed,gnomAD
rs1389205004	p.Glu765Gly	missense variant	-	NC_000010.11:g.62091757A>G	TOPMed
rs1318622103	p.Glu765Asp	missense variant	-	NC_000010.11:g.62091758G>C	gnomAD
rs1445010704	p.Arg766Thr	missense variant	-	NC_000010.11:g.62091760G>C	gnomAD
rs1373243635	p.Asn770Ser	missense variant	-	NC_000010.11:g.62091772A>G	gnomAD
rs907493579	p.Asn770Asp	missense variant	-	NC_000010.11:g.62091771A>G	TOPMed
rs1444705688	p.Asp771Gly	missense variant	-	NC_000010.11:g.62091775A>G	gnomAD
rs780621219	p.Lys774Arg	missense variant	-	NC_000010.11:g.62091784A>G	ExAC,gnomAD
rs756615463	p.Ser779Arg	missense variant	-	NC_000010.11:g.62091800T>A	ExAC,gnomAD
rs753239966	p.Ser779Gly	missense variant	-	NC_000010.11:g.62091798A>G	ExAC,TOPMed,gnomAD
COSM4989976	p.Arg780Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62091801C>T	NCI-TCGA Cosmic
rs140019989	p.Arg780Gly	missense variant	-	NC_000010.11:g.62091801C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs567464868	p.Arg780Leu	missense variant	-	NC_000010.11:g.62091802G>T	1000Genomes,TOPMed,gnomAD
rs567464868	p.Arg780Gln	missense variant	-	NC_000010.11:g.62091802G>A	1000Genomes,TOPMed,gnomAD
rs1243162412	p.Asp782Gly	missense variant	-	NC_000010.11:g.62091808A>G	TOPMed,gnomAD
rs1243162412	p.Asp782Val	missense variant	-	NC_000010.11:g.62091808A>T	TOPMed,gnomAD
COSM3439501	p.Pro783Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091811C>T	NCI-TCGA Cosmic
rs749675398	p.His784Tyr	missense variant	-	NC_000010.11:g.62091813C>T	ExAC,gnomAD
rs369904878	p.Arg785His	missense variant	-	NC_000010.11:g.62091817G>A	ESP,ExAC,TOPMed,gnomAD
rs369904878	p.Arg785His	missense variant	-	NC_000010.11:g.62091817G>A	NCI-TCGA
rs376632312	p.Arg785Cys	missense variant	-	NC_000010.11:g.62091816C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1412061867	p.Cys786Tyr	missense variant	-	NC_000010.11:g.62091820G>A	gnomAD
COSM4929415	p.Ser787Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091824C>A	NCI-TCGA Cosmic
rs1028412213	p.Phe788Ile	missense variant	-	NC_000010.11:g.62091825T>A	TOPMed
rs772181686	p.Ser789Phe	missense variant	-	NC_000010.11:g.62091829C>T	ExAC,gnomAD
rs1469365805	p.His791Tyr	missense variant	-	NC_000010.11:g.62091834C>T	gnomAD
NCI-TCGA novel	p.His791Gln	missense variant	-	NC_000010.11:g.62091836T>A	NCI-TCGA
rs775499447	p.Leu793Phe	missense variant	-	NC_000010.11:g.62091840C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro795Leu	missense variant	-	NC_000010.11:g.62091847C>T	NCI-TCGA
NCI-TCGA novel	p.Leu796His	missense variant	-	NC_000010.11:g.62091850T>A	NCI-TCGA
rs374089244	p.Asp798Asn	missense variant	-	NC_000010.11:g.62091855G>A	ESP,ExAC,TOPMed,gnomAD
rs1452208754	p.Tyr800Ser	missense variant	-	NC_000010.11:g.62091862A>C	TOPMed,gnomAD
rs144809623	p.Val801Ala	missense variant	-	NC_000010.11:g.62091865T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376124965	p.Val801Ile	missense variant	-	NC_000010.11:g.62091864G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu802Met	missense variant	-	NC_000010.11:g.62091867C>A	NCI-TCGA
rs1271994691	p.Gln804Ter	stop gained	-	NC_000010.11:g.62091873C>T	gnomAD
rs1316010573	p.Glu805Gln	missense variant	-	NC_000010.11:g.62091876G>C	gnomAD
rs1316010573	p.Glu805Gln	missense variant	-	NC_000010.11:g.62091876G>C	NCI-TCGA
rs1402825083	p.Ile806Thr	missense variant	-	NC_000010.11:g.62091880T>C	gnomAD
rs766065304	p.Gln807His	missense variant	-	NC_000010.11:g.62091884G>C	ExAC,TOPMed,gnomAD
rs1263236576	p.Glu808Gly	missense variant	-	NC_000010.11:g.62091886A>G	TOPMed,gnomAD
rs768175965	p.Gly809Asp	missense variant	-	NC_000010.11:g.62091889G>A	ExAC,gnomAD
rs372755608	p.Lys810Glu	missense variant	-	NC_000010.11:g.62091891A>G	ESP,ExAC,TOPMed,gnomAD
rs767019001	p.Lys810Asn	missense variant	-	NC_000010.11:g.62091893G>C	ExAC,gnomAD
COSM6130251	p.Lys812Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091898A>G	NCI-TCGA Cosmic
rs752194887	p.Lys812Glu	missense variant	-	NC_000010.11:g.62091897A>G	ExAC,TOPMed,gnomAD
rs764539433	p.Glu815Asp	missense variant	-	NC_000010.11:g.62091908G>T	ExAC,gnomAD
rs1357636535	p.Glu815Gly	missense variant	-	NC_000010.11:g.62091907A>G	TOPMed
rs577564002	p.Glu815Lys	missense variant	-	NC_000010.11:g.62091906G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Arg817Met	missense variant	-	NC_000010.11:g.62091913G>T	NCI-TCGA
NCI-TCGA novel	p.Arg817GlyPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.62091909A>-	NCI-TCGA
NCI-TCGA novel	p.Ala818Thr	missense variant	-	NC_000010.11:g.62091915G>A	NCI-TCGA
rs538388144	p.Leu819Val	missense variant	-	NC_000010.11:g.62091918C>G	1000Genomes,ExAC,gnomAD
rs553462344	p.Pro820Ser	missense variant	-	NC_000010.11:g.62091921C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs147521761	p.His821Asp	missense variant	-	NC_000010.11:g.62091924C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147521761	p.His821Asn	missense variant	-	NC_000010.11:g.62091924C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His821IlePheSerTerUnkUnk	frameshift	-	NC_000010.11:g.62091920C>-	NCI-TCGA
NCI-TCGA novel	p.Ser822Phe	missense variant	-	NC_000010.11:g.62091928C>T	NCI-TCGA
rs1446921206	p.His823Tyr	missense variant	-	NC_000010.11:g.62091930C>T	TOPMed
rs1269407329	p.Met824Thr	missense variant	-	NC_000010.11:g.62091934T>C	gnomAD
rs780161428	p.Met824Ile	missense variant	-	NC_000010.11:g.62091935G>C	ExAC,TOPMed,gnomAD
rs747085426	p.Phe827Leu	missense variant	-	NC_000010.11:g.62091944C>G	ExAC,TOPMed,gnomAD
rs952272035	p.Leu828Pro	missense variant	-	NC_000010.11:g.62091946T>C	TOPMed
rs1342574091	p.Phe831Leu	missense variant	-	NC_000010.11:g.62091954T>C	TOPMed
rs753171994	p.Tyr832Asn	missense variant	-	NC_000010.11:g.62091957T>A	TOPMed,gnomAD
rs753171994	p.Tyr832His	missense variant	-	NC_000010.11:g.62091957T>C	TOPMed,gnomAD
rs1322695665	p.Ser833Leu	missense variant	-	NC_000010.11:g.62091961C>T	gnomAD
rs1395508594	p.Pro835Arg	missense variant	-	NC_000010.11:g.62091967C>G	TOPMed
rs1285691243	p.His836Tyr	missense variant	-	NC_000010.11:g.62091969C>T	gnomAD
rs1377304813	p.His838Tyr	missense variant	-	NC_000010.11:g.62091975C>T	TOPMed
rs1447253513	p.Tyr841Cys	missense variant	-	NC_000010.11:g.62091985A>G	gnomAD
rs140085390	p.His843Tyr	missense variant	-	NC_000010.11:g.62091990C>T	ESP,gnomAD
rs984013941	p.His843Gln	missense variant	-	NC_000010.11:g.62091992C>A	TOPMed
rs1410622319	p.Thr844Ser	missense variant	-	NC_000010.11:g.62091994C>G	TOPMed
rs749293931	p.Glu845Gln	missense variant	-	NC_000010.11:g.62091996G>C	ExAC,TOPMed,gnomAD
rs749293931	p.Glu845Lys	missense variant	-	NC_000010.11:g.62091996G>A	ExAC,TOPMed,gnomAD
rs1487545728	p.His846Gln	missense variant	-	NC_000010.11:g.62092001C>G	gnomAD
rs1369546481	p.His847Arg	missense variant	-	NC_000010.11:g.62092003A>G	TOPMed
rs770843451	p.Leu848Arg	missense variant	-	NC_000010.11:g.62092006T>G	ExAC,gnomAD
rs774323914	p.Glu851Lys	missense variant	-	NC_000010.11:g.62092014G>A	ExAC,TOPMed,gnomAD
rs1477973315	p.Thr853Ile	missense variant	-	NC_000010.11:g.62092021C>T	gnomAD
rs1422708703	p.Ser854Cys	missense variant	-	NC_000010.11:g.62092024C>G	TOPMed
rs767097497	p.Lys855Arg	missense variant	-	NC_000010.11:g.62092027A>G	ExAC,gnomAD
rs775025849	p.Pro857Leu	missense variant	-	NC_000010.11:g.62092033C>T	ExAC,gnomAD
rs760105542	p.Arg859Lys	missense variant	-	NC_000010.11:g.62092039G>A	ExAC,gnomAD
rs1406590994	p.Asp860Gly	missense variant	-	NC_000010.11:g.62092042A>G	gnomAD
rs540450377	p.Asp860Tyr	missense variant	-	NC_000010.11:g.62092041G>T	1000Genomes,ExAC,gnomAD
rs754331196	p.Met861Leu	missense variant	-	NC_000010.11:g.62092044A>T	ExAC,TOPMed,gnomAD
rs754331196	p.Met861Val	missense variant	-	NC_000010.11:g.62092044A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met861CysPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.62092044A>-	NCI-TCGA
rs1230927713	p.Tyr862His	missense variant	-	NC_000010.11:g.62092047T>C	gnomAD
rs562277394	p.Glu864Lys	missense variant	-	NC_000010.11:g.62092053G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs750837260	p.Glu864Asp	missense variant	-	NC_000010.11:g.62092055A>T	ExAC,gnomAD
rs200382682	p.Ser865Trp	missense variant	-	NC_000010.11:g.62092057C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs200382682	p.Ser865Leu	missense variant	-	NC_000010.11:g.62092057C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1283522133	p.Ser868Arg	missense variant	-	NC_000010.11:g.62092065A>C	gnomAD
COSM684761	p.Ser869Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092069C>G	NCI-TCGA Cosmic
rs201944744	p.Ser869Tyr	missense variant	-	NC_000010.11:g.62092069C>A	ESP,ExAC,TOPMed,gnomAD
rs201944744	p.Ser869Tyr	missense variant	-	NC_000010.11:g.62092069C>A	NCI-TCGA,NCI-TCGA Cosmic
rs201944744	p.Ser869Phe	missense variant	-	NC_000010.11:g.62092069C>T	ESP,ExAC,TOPMed,gnomAD
rs865814457	p.Pro871Leu	missense variant	-	NC_000010.11:g.62092075C>T	-
rs865814457	p.Pro871Leu	missense variant	-	NC_000010.11:g.62092075C>T	NCI-TCGA Cosmic
rs755029955	p.Ser872Phe	missense variant	-	NC_000010.11:g.62092078C>T	ExAC,gnomAD
rs1451565101	p.His873Gln	missense variant	-	NC_000010.11:g.62092082C>A	gnomAD
rs1269983870	p.His873Arg	missense variant	-	NC_000010.11:g.62092081A>G	gnomAD
rs1269983870	p.His873Arg	missense variant	-	NC_000010.11:g.62092081A>G	NCI-TCGA
rs948006792	p.His875Arg	missense variant	-	NC_000010.11:g.62092087A>G	TOPMed
COSM3867581	p.Gln876Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62092089C>T	NCI-TCGA Cosmic
rs749204336	p.Glu877Gly	missense variant	-	NC_000010.11:g.62092093A>G	ExAC,TOPMed
rs544883046	p.Lys878Arg	missense variant	-	NC_000010.11:g.62092096A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs774236005	p.Leu879Pro	missense variant	-	NC_000010.11:g.62092099T>C	ExAC,gnomAD
rs1290234686	p.His880Gln	missense variant	-	NC_000010.11:g.62092103T>G	TOPMed
rs914539124	p.Asn882Ser	missense variant	-	NC_000010.11:g.62092108A>G	TOPMed,gnomAD
rs374290098	p.Thr885Met	missense variant	-	NC_000010.11:g.62092117C>T	ESP,ExAC,gnomAD
rs374290098	p.Thr885Arg	missense variant	-	NC_000010.11:g.62092117C>G	ESP,ExAC,gnomAD
rs1389664637	p.Ser886Cys	missense variant	-	NC_000010.11:g.62092120C>G	gnomAD
rs1385018447	p.Leu887Pro	missense variant	-	NC_000010.11:g.62092123T>C	gnomAD
rs748731950	p.His888Tyr	missense variant	-	NC_000010.11:g.62092125C>T	TOPMed
rs748731950	p.His888Asp	missense variant	-	NC_000010.11:g.62092125C>G	TOPMed
rs760433211	p.Asp891Glu	missense variant	-	NC_000010.11:g.62092136C>G	ExAC,gnomAD
rs763591068	p.Ser894Ala	missense variant	-	NC_000010.11:g.62092143T>G	ExAC,gnomAD
rs776160603	p.Ser894Leu	missense variant	-	NC_000010.11:g.62092144C>T	ExAC,gnomAD
rs750764164	p.Ala895Thr	missense variant	-	NC_000010.11:g.62092146G>A	ExAC,gnomAD
rs1052688396	p.Ala896Thr	missense variant	-	NC_000010.11:g.62092149G>A	TOPMed,gnomAD
rs1275774830	p.Glu898Lys	missense variant	-	NC_000010.11:g.62092155G>A	gnomAD
rs755266107	p.Ala899Asp	missense variant	-	NC_000010.11:g.62092159C>A	ExAC,TOPMed,gnomAD
rs751722643	p.Ala899Thr	missense variant	-	NC_000010.11:g.62092158G>A	ExAC,gnomAD
rs751722643	p.Ala899Ser	missense variant	-	NC_000010.11:g.62092158G>T	ExAC,gnomAD
rs1446678326	p.Pro900Arg	missense variant	-	NC_000010.11:g.62092162C>G	TOPMed,gnomAD
rs1446678326	p.Pro900Leu	missense variant	-	NC_000010.11:g.62092162C>T	TOPMed,gnomAD
rs199637139	p.Thr901Lys	missense variant	-	NC_000010.11:g.62092165C>A	1000Genomes,ExAC,gnomAD
rs149025306	p.Thr901Ala	missense variant	-	NC_000010.11:g.62092164A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199637139	p.Thr901Met	missense variant	-	NC_000010.11:g.62092165C>T	1000Genomes,ExAC,gnomAD
rs199637139	p.Thr901Met	missense variant	-	NC_000010.11:g.62092165C>T	NCI-TCGA,NCI-TCGA Cosmic
rs199637139	p.Thr901Arg	missense variant	-	NC_000010.11:g.62092165C>G	1000Genomes,ExAC,gnomAD
rs745616945	p.Gln904Arg	missense variant	-	NC_000010.11:g.62092174A>G	ExAC,gnomAD
rs1008460214	p.Thr906Ser	missense variant	-	NC_000010.11:g.62092179A>T	TOPMed,gnomAD
rs1464988895	p.Thr906Lys	missense variant	-	NC_000010.11:g.62092180C>A	gnomAD
rs1008460214	p.Thr906Ala	missense variant	-	NC_000010.11:g.62092179A>G	TOPMed,gnomAD
rs1464988895	p.Thr906Arg	missense variant	-	NC_000010.11:g.62092180C>G	gnomAD
rs117023200	p.Lys912Asn	missense variant	-	NC_000010.11:g.62092199G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys912SerPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.62092189_62092190insCCTT	NCI-TCGA
rs779966636	p.Pro914Leu	missense variant	-	NC_000010.11:g.62092204C>T	ExAC,TOPMed,gnomAD
rs1267735193	p.Pro914Thr	missense variant	-	NC_000010.11:g.62092203C>A	TOPMed
NCI-TCGA novel	p.Lys916Ter	stop gained	-	NC_000010.11:g.62092209A>T	NCI-TCGA
rs1487431610	p.Thr918Ile	missense variant	-	NC_000010.11:g.62092216C>T	TOPMed
rs776070701	p.Gly919Ser	missense variant	-	NC_000010.11:g.62092218G>A	ExAC,TOPMed,gnomAD
rs776070701	p.Gly919Arg	missense variant	-	NC_000010.11:g.62092218G>C	ExAC,TOPMed,gnomAD
rs1243138820	p.Lys920Asn	missense variant	-	NC_000010.11:g.62092223G>T	gnomAD
rs770222889	p.Leu922Val	missense variant	-	NC_000010.11:g.62092227C>G	ExAC,TOPMed,gnomAD
rs1319253103	p.Gly923Asp	missense variant	-	NC_000010.11:g.62092231G>A	gnomAD
rs897007455	p.Ala925Val	missense variant	-	NC_000010.11:g.62092237C>T	TOPMed
rs1198498194	p.His926Tyr	missense variant	-	NC_000010.11:g.62092239C>T	TOPMed,gnomAD
rs1385609982	p.Thr928Ile	missense variant	-	NC_000010.11:g.62092246C>T	TOPMed
rs1457286170	p.Glu933Lys	missense variant	-	NC_000010.11:g.62092260G>A	TOPMed
rs1387501045	p.Glu933Gly	missense variant	-	NC_000010.11:g.62092261A>G	TOPMed
rs1195081675	p.Ser934Gly	missense variant	-	NC_000010.11:g.62092263A>G	NCI-TCGA
rs1195081675	p.Ser934Gly	missense variant	-	NC_000010.11:g.62092263A>G	gnomAD
rs151219827	p.Ser934Arg	missense variant	-	NC_000010.11:g.62092265C>A	ESP,ExAC,TOPMed,gnomAD
rs367626764	p.Gly936Ala	missense variant	-	NC_000010.11:g.62092270G>C	ESP,ExAC,gnomAD
rs752756858	p.Gln939His	missense variant	-	NC_000010.11:g.62092280G>T	ExAC,TOPMed,gnomAD
rs1469908431	p.Phe940Leu	missense variant	-	NC_000010.11:g.62092283C>A	gnomAD
rs756275189	p.Val942Ile	missense variant	-	NC_000010.11:g.62092287G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val942Gly	missense variant	-	NC_000010.11:g.62092288T>G	NCI-TCGA
rs750322628	p.Ser945Asn	missense variant	-	NC_000010.11:g.62092297G>A	ExAC,gnomAD
COSM2158059	p.Arg948Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092306G>A	NCI-TCGA Cosmic
COSM1348524	p.Arg948Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62092305C>T	NCI-TCGA Cosmic
rs1378000234	p.Arg948Leu	missense variant	-	NC_000010.11:g.62092306G>T	TOPMed
NCI-TCGA novel	p.Arg948Gly	missense variant	-	NC_000010.11:g.62092305C>G	NCI-TCGA
rs1026765832	p.Asp949Glu	missense variant	-	NC_000010.11:g.62092310C>A	TOPMed,gnomAD
rs758401961	p.Cys950Tyr	missense variant	-	NC_000010.11:g.62092312G>A	ExAC,TOPMed,gnomAD
rs1249802128	p.Pro952Ser	missense variant	-	NC_000010.11:g.62092317C>T	TOPMed
rs779693229	p.Ala954Asp	missense variant	-	NC_000010.11:g.62092324C>A	ExAC,gnomAD
rs746843478	p.Arg956Gln	missense variant	-	NC_000010.11:g.62092330G>A	ExAC,gnomAD
rs952373984	p.Arg956Trp	missense variant	-	NC_000010.11:g.62092329C>T	gnomAD
rs1193575018	p.Val957Ala	missense variant	-	NC_000010.11:g.62092333T>C	NCI-TCGA Cosmic
rs1255438374	p.Val957Leu	missense variant	-	NC_000010.11:g.62092332G>T	gnomAD
rs1193575018	p.Val957Ala	missense variant	-	NC_000010.11:g.62092333T>C	gnomAD
rs780830671	p.Thr961Ser	missense variant	-	NC_000010.11:g.62092344A>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser963Pro	missense variant	-	NC_000010.11:g.62092350T>C	NCI-TCGA
COSM3439505	p.Gly964Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092354G>T	NCI-TCGA Cosmic
rs1487871675	p.Pro965Ala	missense variant	-	NC_000010.11:g.62092356C>G	TOPMed,gnomAD
COSM293506	p.Lys967AsnPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62092359A>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr968IlePheSerTerUnk	frameshift	-	NC_000010.11:g.62092358_62092359insA	NCI-TCGA
rs1480696945	p.Pro969Arg	missense variant	-	NC_000010.11:g.62092369C>G	gnomAD
NCI-TCGA novel	p.Glu970Asp	missense variant	-	NC_000010.11:g.62092373A>T	NCI-TCGA
NCI-TCGA novel	p.Glu970Lys	missense variant	-	NC_000010.11:g.62092371G>A	NCI-TCGA
rs1375363715	p.Ser971Ala	missense variant	-	NC_000010.11:g.62092374T>G	gnomAD
rs772815163	p.Ser971Leu	missense variant	-	NC_000010.11:g.62092375C>T	ExAC,gnomAD
rs772815163	p.Ser971Leu	missense variant	-	NC_000010.11:g.62092375C>T	NCI-TCGA,NCI-TCGA Cosmic
rs774536160	p.Arg974Lys	missense variant	-	NC_000010.11:g.62092384G>A	ExAC,gnomAD
rs371725043	p.Arg974Gly	missense variant	-	NC_000010.11:g.62092383A>G	ESP,ExAC,gnomAD
rs774536160	p.Arg974Thr	missense variant	-	NC_000010.11:g.62092384G>C	ExAC,gnomAD
COSM3439507	p.Ser975Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092387C>T	NCI-TCGA Cosmic
rs1345910651	p.Ser975Pro	missense variant	-	NC_000010.11:g.62092386T>C	TOPMed
rs1438102292	p.Gly976Ala	missense variant	-	NC_000010.11:g.62092390G>C	TOPMed,gnomAD
COSM1348525	p.Pro978Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092396C>T	NCI-TCGA Cosmic
rs1231528384	p.His979Gln	missense variant	-	NC_000010.11:g.62092400C>A	TOPMed
rs759982287	p.His980Arg	missense variant	-	NC_000010.11:g.62092402A>G	ExAC,TOPMed,gnomAD
rs567434039	p.His980Gln	missense variant	-	NC_000010.11:g.62092403T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs775841261	p.Asn985His	missense variant	-	NC_000010.11:g.62092416A>C	ExAC,TOPMed,gnomAD
rs764050346	p.Arg987Gly	missense variant	-	NC_000010.11:g.62092422A>G	ExAC,gnomAD
rs960830410	p.Met989Ile	missense variant	-	NC_000010.11:g.62092430G>C	TOPMed,gnomAD
rs1287061869	p.Met989Val	missense variant	-	NC_000010.11:g.62092428A>G	gnomAD
rs754000245	p.Glu990Asp	missense variant	-	NC_000010.11:g.62092433A>T	ExAC,gnomAD
rs758222648	p.Gly991Ser	missense variant	-	NC_000010.11:g.62092434G>A	ExAC,gnomAD
rs1190493893	p.Met992Thr	missense variant	-	NC_000010.11:g.62092438T>C	gnomAD
NCI-TCGA novel	p.Met992Ile	missense variant	-	NC_000010.11:g.62092439G>C	NCI-TCGA
rs766373183	p.His994Gln	missense variant	-	NC_000010.11:g.62092445C>G	ExAC,TOPMed,gnomAD
rs1265170141	p.His994Arg	missense variant	-	NC_000010.11:g.62092444A>G	gnomAD
rs751291726	p.Pro995Arg	missense variant	-	NC_000010.11:g.62092447C>G	ExAC,gnomAD
rs916811022	p.Arg999Gln	missense variant	-	NC_000010.11:g.62092459G>A	TOPMed,gnomAD
rs754783451	p.Met1001Val	missense variant	-	NC_000010.11:g.62092464A>G	ExAC,gnomAD
rs1367766830	p.Pro1003Leu	missense variant	-	NC_000010.11:g.62092471C>T	TOPMed,gnomAD
rs755809773	p.Ile1006Thr	missense variant	-	NC_000010.11:g.62092480T>C	ExAC,TOPMed,gnomAD
rs747798038	p.Ile1006Phe	missense variant	-	NC_000010.11:g.62092479A>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly1007Glu	missense variant	-	NC_000010.11:g.62092483G>A	NCI-TCGA
rs1376484834	p.Ala1008Val	missense variant	-	NC_000010.11:g.62092486C>T	gnomAD
COSM4015034	p.Ala1009Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092489C>G	NCI-TCGA Cosmic
rs145564601	p.Ala1009Val	missense variant	-	NC_000010.11:g.62092489C>T	ESP,ExAC,TOPMed,gnomAD
rs137983907	p.Arg1010Gln	missense variant	-	NC_000010.11:g.62092492G>A	NCI-TCGA,NCI-TCGA Cosmic
rs137983907	p.Arg1010Pro	missense variant	-	NC_000010.11:g.62092492G>C	ESP,ExAC,TOPMed,gnomAD
rs137983907	p.Arg1010Gln	missense variant	-	NC_000010.11:g.62092492G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1011Ser	missense variant	-	NC_000010.11:g.62092494C>T	NCI-TCGA
rs1178738385	p.Arg1014Cys	missense variant	-	NC_000010.11:g.62092503C>T	gnomAD
rs1236991649	p.Arg1014His	missense variant	-	NC_000010.11:g.62092504G>A	gnomAD
rs1178738385	p.Arg1014Cys	missense variant	-	NC_000010.11:g.62092503C>T	NCI-TCGA Cosmic
rs761958341	p.Leu1016Met	missense variant	-	NC_000010.11:g.62092509C>A	ExAC,TOPMed,gnomAD
rs761958341	p.Leu1016Val	missense variant	-	NC_000010.11:g.62092509C>G	ExAC,TOPMed,gnomAD
rs1414049749	p.Glu1017Val	missense variant	-	NC_000010.11:g.62092513A>T	gnomAD
rs1406382655	p.Asp1018Tyr	missense variant	-	NC_000010.11:g.62092515G>T	gnomAD
rs1406382655	p.Asp1018Asn	missense variant	-	NC_000010.11:g.62092515G>A	gnomAD
rs947375192	p.Val1022Met	missense variant	-	NC_000010.11:g.62092527G>A	gnomAD
NCI-TCGA novel	p.Val1022Ala	missense variant	-	NC_000010.11:g.62092528T>C	NCI-TCGA
COSM3439511	p.Gly1025Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092537G>A	NCI-TCGA Cosmic
COSM684759	p.Gly1025Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092536G>A	NCI-TCGA Cosmic
rs752506951	p.Lys1026Glu	missense variant	-	NC_000010.11:g.62092539A>G	ExAC,gnomAD
rs752506951	p.Lys1026Gln	missense variant	-	NC_000010.11:g.62092539A>C	ExAC,gnomAD
rs1444644383	p.Ala1028Ser	missense variant	-	NC_000010.11:g.62092545G>T	gnomAD
COSM278975	p.Arg1029Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092548C>T	NCI-TCGA Cosmic
rs755680117	p.Arg1029Gln	missense variant	-	NC_000010.11:g.62092549G>A	ExAC,gnomAD
rs755680117	p.Arg1029Pro	missense variant	-	NC_000010.11:g.62092549G>C	ExAC,gnomAD
rs571413236	p.Ala1030Glu	missense variant	-	NC_000010.11:g.62092552C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs571413236	p.Ala1030Val	missense variant	-	NC_000010.11:g.62092552C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1030Pro	missense variant	-	NC_000010.11:g.62092551G>C	NCI-TCGA
rs538252997	p.Val1031Met	missense variant	-	NC_000010.11:g.62092554G>A	1000Genomes,ExAC,gnomAD
rs1340574832	p.Pro1033Ser	missense variant	-	NC_000010.11:g.62092560C>T	NCI-TCGA
rs1340574832	p.Pro1033Ser	missense variant	-	NC_000010.11:g.62092560C>T	TOPMed
NCI-TCGA novel	p.Pro1033Leu	missense variant	-	NC_000010.11:g.62092561C>T	NCI-TCGA
rs1325797528	p.Leu1034Ser	missense variant	-	NC_000010.11:g.62092564T>C	TOPMed,gnomAD
rs1256883858	p.Pro1036Ala	missense variant	-	NC_000010.11:g.62092569C>G	gnomAD
rs778633528	p.Val1040Phe	missense variant	-	NC_000010.11:g.62092581G>T	ExAC,gnomAD
rs1340750457	p.Gly1042Arg	missense variant	-	NC_000010.11:g.62092587G>A	TOPMed
rs200691666	p.Lys1043Arg	missense variant	-	NC_000010.11:g.62092591A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs775949292	p.Lys1045Thr	missense variant	-	NC_000010.11:g.62092597A>C	ExAC,gnomAD
rs747411203	p.Ala1046Gly	missense variant	-	NC_000010.11:g.62092600C>G	ExAC,gnomAD
rs1172094709	p.Glu1048Lys	missense variant	-	NC_000010.11:g.62092605G>A	TOPMed,gnomAD
rs1464172612	p.Gln1049Arg	missense variant	-	NC_000010.11:g.62092609A>G	gnomAD
rs769917213	p.Glu1050Lys	missense variant	-	NC_000010.11:g.62092611G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1052Lys	missense variant	-	NC_000010.11:g.62092617G>A	NCI-TCGA
rs1300866874	p.Ala1057Val	missense variant	-	NC_000010.11:g.62092633C>T	gnomAD
rs1277563545	p.Gly1059Arg	missense variant	-	NC_000010.11:g.62092638G>C	gnomAD
rs752420847	p.Gly1059Ala	missense variant	-	NC_000010.11:g.62092639G>C	ExAC,TOPMed,gnomAD
rs760529598	p.Gly1060Glu	missense variant	-	NC_000010.11:g.62092642G>A	ExAC,TOPMed,gnomAD
rs376805718	p.Gly1063Arg	missense variant	-	NC_000010.11:g.62092650G>A	NCI-TCGA,NCI-TCGA Cosmic
rs376805718	p.Gly1063Arg	missense variant	-	NC_000010.11:g.62092650G>A	ExAC,TOPMed,gnomAD
rs1484124255	p.Gly1064Cys	missense variant	-	NC_000010.11:g.62092653G>T	TOPMed
rs199685713	p.Gly1064Asp	missense variant	-	NC_000010.11:g.62092654G>A	1000Genomes
NCI-TCGA novel	p.Gly1064Ala	missense variant	-	NC_000010.11:g.62092654G>C	NCI-TCGA
rs778543737	p.Gly1065Arg	missense variant	-	NC_000010.11:g.62092656G>A	ExAC,TOPMed,gnomAD
rs749976442	p.Gly1065Glu	missense variant	-	NC_000010.11:g.62092657G>A	ExAC,gnomAD
rs749976442	p.Gly1065Ala	missense variant	-	NC_000010.11:g.62092657G>C	ExAC,gnomAD
rs1467387088	p.Ser1066Thr	missense variant	-	NC_000010.11:g.62092659T>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ser1066Leu	missense variant	-	NC_000010.11:g.62092660C>T	NCI-TCGA
rs780712658	p.Glu1067Gly	missense variant	-	NC_000010.11:g.62092663A>G	ExAC,gnomAD
rs747279944	p.Gly1068Val	missense variant	-	NC_000010.11:g.62092666G>T	ExAC,gnomAD
rs574165686	p.His1069Gln	missense variant	-	NC_000010.11:g.62092670C>A	1000Genomes,ExAC,gnomAD
rs1174292279	p.Lys1070Arg	missense variant	-	NC_000010.11:g.62092672A>G	gnomAD
rs1362687523	p.Pro1072Leu	missense variant	-	NC_000010.11:g.62092678C>T	gnomAD
rs748374587	p.Leu1073Phe	missense variant	-	NC_000010.11:g.62092680C>T	ExAC,gnomAD
rs748374587	p.Leu1073Ile	missense variant	-	NC_000010.11:g.62092680C>A	ExAC,gnomAD
rs773233273	p.Ser1075Cys	missense variant	-	NC_000010.11:g.62092687C>G	ExAC,gnomAD
rs763022701	p.Pro1076Arg	missense variant	-	NC_000010.11:g.62092690C>G	ExAC,gnomAD
rs763022701	p.Pro1076Leu	missense variant	-	NC_000010.11:g.62092690C>T	ExAC,gnomAD
rs1343745122	p.Ile1077Met	missense variant	-	NC_000010.11:g.62092694C>G	gnomAD
rs771935665	p.Ile1077Val	missense variant	-	NC_000010.11:g.62092692A>G	ExAC,TOPMed
rs1215947530	p.Phe1078Val	missense variant	-	NC_000010.11:g.62092695T>G	TOPMed,gnomAD
rs1231090488	p.Gly1080Ser	missense variant	-	NC_000010.11:g.62092701G>A	TOPMed
rs760594078	p.Tyr1082Phe	missense variant	-	NC_000010.11:g.62092708A>T	ExAC
rs1285964900	p.Ser1083Ala	missense variant	-	NC_000010.11:g.62092710T>G	gnomAD
rs753624328	p.Gly1084Arg	missense variant	-	NC_000010.11:g.62092713G>A	ExAC,gnomAD
rs761478562	p.Ser1085Asn	missense variant	-	NC_000010.11:g.62092717G>A	ExAC,TOPMed,gnomAD
rs761478562	p.Ser1085Ile	missense variant	-	NC_000010.11:g.62092717G>T	ExAC,TOPMed,gnomAD
rs1201566710	p.Ser1085Arg	missense variant	-	NC_000010.11:g.62092718C>G	TOPMed,gnomAD
rs765012710	p.Leu1086Val	missense variant	-	NC_000010.11:g.62092719C>G	ExAC,TOPMed,gnomAD
rs1477778114	p.Cys1087Arg	missense variant	-	NC_000010.11:g.62092722T>C	gnomAD
rs1170860237	p.Ser1089Leu	missense variant	-	NC_000010.11:g.62092729C>T	gnomAD
rs1170860237	p.Ser1089Leu	missense variant	-	NC_000010.11:g.62092729C>T	NCI-TCGA Cosmic
rs1405830003	p.Gly1090Ser	missense variant	-	NC_000010.11:g.62092731G>A	TOPMed
rs141027688	p.Leu1091Phe	missense variant	-	NC_000010.11:g.62092734C>T	ESP,ExAC,TOPMed,gnomAD
rs779771698	p.Arg1094Ser	missense variant	-	NC_000010.11:g.62092745G>T	ExAC,gnomAD
rs779771698	p.Arg1094Ser	missense variant	-	NC_000010.11:g.62092745G>C	ExAC,gnomAD
COSM3439513	p.Pro1096Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092749C>T	NCI-TCGA Cosmic
rs79237609	p.Pro1096Leu	missense variant	-	NC_000010.11:g.62092750C>T	gnomAD
rs752105540	p.Ala1097Thr	missense variant	-	NC_000010.11:g.62092752G>A	ExAC,TOPMed
rs752105540	p.Ala1097Ser	missense variant	-	NC_000010.11:g.62092752G>T	ExAC,TOPMed
rs755481975	p.Gly1098Arg	missense variant	-	NC_000010.11:g.62092755G>A	ExAC,gnomAD
rs1433741917	p.Tyr1099Asp	missense variant	-	NC_000010.11:g.62092758T>G	gnomAD
rs1377220137	p.His1101Arg	missense variant	-	NC_000010.11:g.62092765A>G	gnomAD
rs1164426377	p.His1101Tyr	missense variant	-	NC_000010.11:g.62092764C>T	gnomAD
rs1377220137	p.His1101Leu	missense variant	-	NC_000010.11:g.62092765A>T	gnomAD
NCI-TCGA novel	p.Gln1104Ter	stop gained	-	NC_000010.11:g.62092773C>T	NCI-TCGA
rs777981850	p.Lys1107Arg	missense variant	-	NC_000010.11:g.62092783A>G	ExAC,gnomAD
rs770993100	p.Asn1108Ser	missense variant	-	NC_000010.11:g.62092786A>G	ExAC,gnomAD
rs749567066	p.Asn1108His	missense variant	-	NC_000010.11:g.62092785A>C	ExAC,gnomAD
rs1291272523	p.Gln1109Lys	missense variant	-	NC_000010.11:g.62092788C>A	gnomAD
rs1163681085	p.Val1111Leu	missense variant	-	NC_000010.11:g.62092794G>T	TOPMed,gnomAD
rs1163681085	p.Val1111Leu	missense variant	-	NC_000010.11:g.62092794G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Pro1114Leu	missense variant	-	NC_000010.11:g.62092804C>T	NCI-TCGA
COSM919400	p.Met1116Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092809A>G	NCI-TCGA Cosmic
rs768499894	p.Met1116Leu	missense variant	-	NC_000010.11:g.62092809A>C	ExAC,gnomAD
rs1451482154	p.Ala1120Ser	missense variant	-	NC_000010.11:g.62092821G>T	TOPMed
rs1288536675	p.His1122Gln	missense variant	-	NC_000010.11:g.62092829C>G	TOPMed
NCI-TCGA novel	p.Ser1123Leu	missense variant	-	NC_000010.11:g.62092831C>T	NCI-TCGA
rs764926817	p.Leu1124Phe	missense variant	-	NC_000010.11:g.62092833C>T	ExAC,gnomAD
rs764926817	p.Leu1124Phe	missense variant	-	NC_000010.11:g.62092833C>T	NCI-TCGA
rs1473681321	p.Arg1128Gly	missense variant	-	NC_000010.11:g.62092845A>G	gnomAD
COSM919401	p.Phe1131Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092855T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe1131LeuPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.62092852T>-	NCI-TCGA
rs779922348	p.Thr1132Pro	missense variant	-	NC_000010.11:g.62092857A>C	TOPMed,gnomAD
rs765959720	p.Ser1133Thr	missense variant	-	NC_000010.11:g.62092860T>A	ExAC,TOPMed,gnomAD
rs1445382489	p.Pro1134Leu	missense variant	-	NC_000010.11:g.62092864C>T	gnomAD
rs751082363	p.Pro1134Thr	missense variant	-	NC_000010.11:g.62092863C>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro1134LeuPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.62092863_62092872CCGACAAATT>-	NCI-TCGA
COSM919402	p.Ser1137Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092872T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser1137Tyr	missense variant	-	NC_000010.11:g.62092873C>A	NCI-TCGA
NCI-TCGA novel	p.Ser1137Phe	missense variant	-	NC_000010.11:g.62092873C>T	NCI-TCGA
rs1370932519	p.Gln1139Arg	missense variant	-	NC_000010.11:g.62092879A>G	TOPMed
rs1319691898	p.Leu1140Pro	missense variant	-	NC_000010.11:g.62092882T>C	gnomAD
rs755468425	p.Tyr1141Phe	missense variant	-	NC_000010.11:g.62092885A>T	ExAC,gnomAD
rs755468425	p.Tyr1141Cys	missense variant	-	NC_000010.11:g.62092885A>G	ExAC,gnomAD
rs1276332232	p.His1143Tyr	missense variant	-	NC_000010.11:g.62092890C>T	TOPMed
rs746936582	p.Leu1144Phe	missense variant	-	NC_000010.11:g.62092895G>C	gnomAD
rs1349220963	p.Ala1146Val	missense variant	-	NC_000010.11:g.62092900C>T	TOPMed
rs1349220963	p.Ala1146Val	missense variant	-	NC_000010.11:g.62092900C>T	NCI-TCGA
rs753043945	p.Ala1147Pro	missense variant	-	NC_000010.11:g.62092902G>C	ExAC,gnomAD
rs778176196	p.Thr1148Lys	missense variant	-	NC_000010.11:g.62092906C>A	ExAC,gnomAD
rs1290988046	p.Pro1149His	missense variant	-	NC_000010.11:g.62092909C>A	gnomAD
rs749479364	p.Val1150Ile	missense variant	-	NC_000010.11:g.62092911G>A	ExAC,gnomAD
rs757523047	p.Tyr1154Cys	missense variant	-	NC_000010.11:g.62092924A>G	ExAC,gnomAD
rs1236636347	p.Gly1155Glu	missense variant	-	NC_000010.11:g.62092927G>A	NCI-TCGA Cosmic
rs1236636347	p.Gly1155Glu	missense variant	-	NC_000010.11:g.62092927G>A	TOPMed,gnomAD
rs1236636347	p.Gly1155Val	missense variant	-	NC_000010.11:g.62092927G>T	TOPMed,gnomAD
rs779001361	p.Asp1156Asn	missense variant	-	NC_000010.11:g.62092929G>A	ExAC,gnomAD
rs779001361	p.Asp1156Tyr	missense variant	-	NC_000010.11:g.62092929G>T	ExAC,gnomAD
rs768573131	p.Leu1158Trp	missense variant	-	NC_000010.11:g.62092936T>G	ExAC,gnomAD
rs748157002	p.His1159Arg	missense variant	-	NC_000010.11:g.62092939A>G	ExAC
rs769710985	p.Asn1160Asp	missense variant	-	NC_000010.11:g.62092941A>G	ExAC,gnomAD
rs1235515490	p.Ile1162Met	missense variant	-	NC_000010.11:g.62092949T>G	gnomAD
rs1266473400	p.Tyr1163Ter	stop gained	-	NC_000010.11:g.62092952C>G	gnomAD
NCI-TCGA novel	p.Pro1164Ser	missense variant	-	NC_000010.11:g.62092953C>T	NCI-TCGA
rs979495140	p.Ala1166Val	missense variant	-	NC_000010.11:g.62092960C>T	TOPMed
NCI-TCGA novel	p.Ile1168Met	missense variant	-	NC_000010.11:g.62092967A>G	NCI-TCGA
rs149557934	p.Pro1170Thr	missense variant	-	NC_000010.11:g.62092971C>A	ESP,ExAC,gnomAD
rs149557934	p.Pro1170Ser	missense variant	-	NC_000010.11:g.62092971C>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Gln1171Glu	missense variant	-	NC_000010.11:g.62092974C>G	NCI-TCGA
rs1396209445	p.Ala1172Ser	missense variant	-	NC_000010.11:g.62092977G>T	gnomAD
rs1465882867	p.Ala1173Asp	missense variant	-	NC_000010.11:g.62092981C>A	TOPMed
rs1264515245	p.Ala1173Thr	missense variant	-	NC_000010.11:g.62092980G>A	TOPMed,gnomAD
COSM3439517	p.Pro1175Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092987C>T	NCI-TCGA Cosmic
rs1340309576	p.Ser1176Tyr	missense variant	-	NC_000010.11:g.62092990C>A	gnomAD
rs1207724828	p.Ser1180Leu	missense variant	-	NC_000010.11:g.62093002C>T	TOPMed
rs1218120279	p.Ser1181Cys	missense variant	-	NC_000010.11:g.62093005C>G	gnomAD
rs144254235	p.Val1182Met	missense variant	-	NC_000010.11:g.62093007G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753137439	p.Thr1186Ala	missense variant	-	NC_000010.11:g.62093019A>G	ExAC,gnomAD
rs1255716370	p.Lys1187Glu	missense variant	-	NC_000010.11:g.62093022A>G	gnomAD
NCI-TCGA novel	p.Ter1189TyrGluUnkThrTerUnkUnk	stop lost	-	NC_000010.11:g.62093030G>C	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0003873	Rheumatoid Arthritis	disease	BEFREE;CTD_human;GWASCAT;GWASDB
C0010054	Coronary Arteriosclerosis	disease	BEFREE
C0010068	Coronary heart disease	disease	BEFREE
C0010606	Adenoid Cystic Carcinoma	disease	CTD_human
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0013221	Drug toxicity	group	CTD_human
C0018213	Graves Disease	disease	BEFREE;CTD_human
C0020639	Hypoproteinemia	disease	BEFREE
C0023418	leukemia	disease	BEFREE
C0023449	Acute lymphocytic leukemia	disease	BEFREE
C0023452	Childhood Acute Lymphoblastic Leukemia	disease	BEFREE;CTD_human
C0023453	Leukemia, Lymphocytic, Acute, L2	disease	CTD_human
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0024141	Lupus Erythematosus, Systemic	disease	BEFREE;GWASCAT;GWASDB
C0027439	Nasopharyngeal Neoplasms	group	GWASDB
C0041755	Adverse reaction to drug	group	CTD_human
C0042900	Vitiligo	disease	GWASCAT
C0085669	Acute leukemia	disease	BEFREE
C0279584	Childhood B Acute Lymphoblastic Leukemia	disease	BEFREE
C0398791	Nijmegen Breakage Syndrome	disease	BEFREE
C0474566	Platelet hematocrit measurement	phenotype	GWASCAT
C0598766	Leukemogenesis	disease	BEFREE
C1292769	Precursor B-cell lymphoblastic leukemia	disease	BEFREE;GWASCAT
C1332977	Childhood Leukemia	disease	BEFREE
C1956346	Coronary Artery Disease	disease	BEFREE
C1961102	Precursor Cell Lymphoblastic Leukemia Lymphoma	disease	BEFREE;CTD_human;GWASCAT;GWASDB
C2697636	Hyperdiploid B Acute Lymphoblastic Leukemia	disease	BEFREE
C3888194	MIXED LINEAGE LEUKEMIA	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IDA
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA
GO:0003677	DNA binding	IDA
GO:0003713	transcription coactivator activity	IDA
GO:0005515	protein binding	IPI
GO:0044212	transcription regulatory region DNA binding	IDA
GO:0044212	transcription regulatory region DNA binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA
GO:0001822	kidney development	IEA
GO:0001889	liver development	TAS
GO:0006357	regulation of transcription by RNA polymerase II	IBA
GO:0006807	nitrogen compound metabolic process	IEA
GO:0008584	male gonad development	IEA
GO:0008585	female gonad development	IEA
GO:0009791	post-embryonic development	IEA
GO:0010761	fibroblast migration	IEA
GO:0030325	adrenal gland development	IEA
GO:0035264	multicellular organism growth	IEA
GO:0045444	fat cell differentiation	IEA
GO:0045892	negative regulation of transcription, DNA-templated	TAS
GO:0048008	platelet-derived growth factor receptor signaling pathway	IEA
GO:0048468	cell development	IEA
GO:0048644	muscle organ morphogenesis	IEA
GO:0048705	skeletal system morphogenesis	IEA
GO:0051091	positive regulation of DNA-binding transcription factor activity	IDA
GO:0060021	roof of mouth development	IEA
GO:0060325	face morphogenesis	IEA
GO:0060612	adipose tissue development	ISS
GO:0060613	fat pad development	IEA
GO:1903508	positive regulation of nucleic acid-templated transcription	IEA
GO:1990830	cellular response to leukemia inhibitory factor	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IBA
GO:0005654	nucleoplasm	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-3214842	HDMs demethylate histones	TAS
R-HSA-3247509	Chromatin modifying enzymes	TAS
R-HSA-4839726	Chromatin organization	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in increased expression of ARID5B mRNA	22698814
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 ARID5B mRNA	29432896
C532162	2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	[PIK3CA gene mutant form results in increased susceptibility to 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine] which results in increased expression of ARID5B mRNA	20453058
C009407	2,5,2',5'-tetrachlorobiphenyl	2,5,2',5'-tetrachlorobiphenyl results in decreased expression of ARID5B mRNA	23829299
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ARID5B mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ARID5B mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ARID5B mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ARID5B mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ARID5B mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in increased expression of ARID5B mRNA	26238291
C011864	7-hydroxymethotrexate	ARID5B gene SNP affects the abundance of 7-hydroxymethotrexate	24712521
D015124	8-Bromo Cyclic Adenosine Monophosphate	8-Bromo Cyclic Adenosine Monophosphate results in decreased expression of ARID5B mRNA	22079614
C496492	abrine	abrine results in increased expression of ARID5B mRNA	31054353
D000393	Air Pollutants	Air Pollutants analog results in decreased expression of ARID5B mRNA	21757418
D001151	Arsenic	Arsenic affects the expression of ARID5B mRNA	30746931
D001151	Arsenic	Arsenic results in increased methylation of ARID5B gene	30746931
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of ARID5B mRNA	27829220
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite results in increased expression of ARID5B mRNA	18687144
D001280	Atrazine	Atrazine results in increased expression of ARID5B mRNA	22378314
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of ARID5B mRNA	19770486
C044887	beta-methylcholine	beta-methylcholine affects the expression of ARID5B mRNA	21179406
C004541	biochanin A	biochanin A results in increased expression of ARID5B mRNA	12111696
C006780	bisphenol A	bisphenol A results in increased methylation of ARID5B intron	30906313
C006780	bisphenol A	bisphenol A results in increased methylation of ARID5B promoter	30906313
C006780	bisphenol A	bisphenol A results in increased expression of ARID5B mRNA	29275510
C006780	bisphenol A	bisphenol A results in increased expression of ARID5B mRNA	26063408
C006780	bisphenol A	bisphenol A affects the expression of ARID5B mRNA	25181051
C038091	butylparaben	butylparaben results in increased expression of ARID5B mRNA	29458080
C584509	C646 compound	C646 compound affects the expression of ARID5B mRNA	26191083
D002737	Chloroprene	Chloroprene results in increased expression of ARID5B mRNA	23125180
D002945	Cisplatin	ARID5B protein affects the susceptibility to Cisplatin	16217747
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of ARID5B mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of ARID5B mRNA	27392435
D019327	Copper Sulfate	Copper Sulfate results in increased expression of ARID5B mRNA	19549813
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of ARID5B mRNA]	27941970
D003907	Dexamethasone	Dexamethasone results in increased expression of ARID5B mRNA	22733784
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of ARID5B mRNA	17361019; 21266533;
D004008	Diclofenac	Diclofenac results in decreased expression of ARID5B mRNA	26934552
D013196	Dihydrotestosterone	Dihydrotestosterone results in increased expression of ARID5B mRNA	29458080
C025605	diisobutyl phthalate	diisobutyl phthalate results in increased expression of ARID5B mRNA	29458080
C516138	dorsomorphin	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ARID5B mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ARID5B mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ARID5B mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ARID5B mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ARID5B mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of ARID5B mRNA	29803840
D004958	Estradiol	EGF protein inhibits the reaction [Estradiol results in decreased expression of ARID5B mRNA]	24758408
D004958	Estradiol	Estradiol affects the expression of ARID5B mRNA	22574217
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in decreased expression of ARID5B mRNA	30165855
D004958	Estradiol	Estradiol results in decreased expression of ARID5B mRNA	24758408
D000431	Ethanol	Ethanol affects the expression of ARID5B mRNA	30319688
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of ARID5B mRNA	17942748
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in increased expression of ARID5B mRNA	23649840
D005472	Fluorouracil	ARID5B protein affects the susceptibility to Fluorouracil	16217747
D005557	Formaldehyde	Formaldehyde results in increased expression of ARID5B 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 ARID5B 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 ARID5B mRNA	29432896
C106014	gedunin	gedunin results in decreased expression of ARID5B mRNA	17010675
D007213	Indomethacin	Indomethacin results in decreased expression of ARID5B mRNA	16984733
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 ARID5B mRNA	29432896
D007545	Isoproterenol	Isoproterenol results in increased expression of ARID5B mRNA	20003209
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of ARID5B mRNA	27392435
C544151	jinfukang	jinfukang results in decreased expression of ARID5B mRNA	27392435
D019344	Lactic Acid	Lactic Acid results in decreased expression of ARID5B mRNA	30851411
D000077339	Leflunomide	Leflunomide results in increased expression of ARID5B mRNA	28988120
C482199	lipopolysaccharide, E coli O55-B5	[trovafloxacin co-treated with lipopolysaccharide, E coli O55-B5] results in increased expression of ARID5B mRNA	18930950
C042720	mercuric bromide	mercuric bromide results in increased expression of ARID5B mRNA	26272509
C042720	mercuric bromide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ARID5B mRNA	27188386
D008727	Methotrexate	ARID5B gene SNP affects the abundance of Methotrexate	24712521
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of ARID5B mRNA	26011545
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of ARID5B mRNA	23649840
C000622638	MLN7243	MLN7243 results in increased sumoylation of ARID5B protein	31285264
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of ARID5B mRNA	26251327
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ARID5B mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of ARID5B mRNA	26272509
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 ARID5B 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 ARID5B mRNA	29432896
C410127	PCB 180	PCB 180 results in decreased expression of ARID5B mRNA	23829299
C046012	pentanal	pentanal results in decreased expression of ARID5B mRNA	26079696
D010634	Phenobarbital	Phenobarbital affects the expression of ARID5B mRNA	23091169
D010634	Phenobarbital	Phenobarbital results in decreased expression of ARID5B mRNA	19270015
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ARID5B mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of ARID5B mRNA	26272509
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of ARID5B mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in decreased expression of ARID5B mRNA	20813756; 23811191;
D010938	Plant Oils	Plant Oils results in increased expression of ARID5B mRNA	23370395
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 ARID5B 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 ARID5B mRNA	29432896
D011192	Potassium Dichromate	Potassium Dichromate results in decreased expression of ARID5B mRNA	23608068
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride affects the expression of ARID5B mRNA	14699072
D012402	Rotenone	Rotenone affects the expression of ARID5B mRNA	28374803
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of ARID5B mRNA	25895662
D012834	Silver	Silver results in increased expression of ARID5B mRNA	26014281
C009277	sodium arsenate	sodium arsenate results in decreased expression of ARID5B mRNA	21795629
C017947	sodium arsenite	[sodium arsenite co-treated with sodium arsenite deficiency] results in decreased methylation of ARID5B promoter	28336213
C017947	sodium arsenite	sodium arsenite results in increased expression of ARID5B mRNA	29301061
C017947	sodium arsenite	sodium arsenite results in increased expression of ARID5B mRNA	16014739
D012999	Soman	Soman results in increased expression of ARID5B mRNA	19281266
D013629	Tamoxifen	Tamoxifen affects the expression of ARID5B mRNA	14699072
D013629	Tamoxifen	Tamoxifen affects the expression of ARID5B mRNA	20937368
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of ARID5B mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of ARID5B mRNA	17942748
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of ARID5B mRNA	28065790
C024746	tobacco tar	tobacco tar results in decreased expression of ARID5B mRNA	19559774
D014212	Tretinoin	Tretinoin results in increased expression of ARID5B mRNA	21934132
D014241	Trichloroethylene	Trichloroethylene results in increased methylation of ARID5B gene	27618143
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ARID5B mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of ARID5B mRNA	24935251; 26272509;
D014260	Triclosan	Triclosan results in decreased expression of ARID5B mRNA	29596926
D014260	Triclosan	Triclosan results in increased expression of ARID5B mRNA	30510588
C050414	tripterine	tripterine results in decreased expression of ARID5B mRNA	17010675
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of ARID5B mRNA	26179874
C080163	trovafloxacin	[trovafloxacin co-treated with lipopolysaccharide, E coli O55-B5] results in increased expression of ARID5B mRNA	18930950
D014415	Tunicamycin	Tunicamycin results in decreased expression of ARID5B mRNA	29453283
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ARID5B mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of ARID5B mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of ARID5B mRNA	23179753; 24383497; 24935251; 26272509; 27188386; 28001369;
D014635	Valproic Acid	Valproic Acid affects the expression of ARID5B mRNA	17963808
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of ARID5B gene	25560391
D000077337	Vorinostat	Vorinostat results in increased expression of ARID5B mRNA	26272509; 27188386;
D014874	Water Pollutants, Chemical	Water Pollutants, Chemical results in decreased expression of ARID5B mRNA	22899542

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0010	Activator
KW-0025	Alternative splicing
KW-0238	DNA-binding
KW-1017	Isopeptide bond
KW-0488	Methylation
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0832	Ubl conjugation

Interpro

InterPro ID	InterPro Term
IPR030408	ARID5B
IPR001606	ARID_dom
IPR036431	ARID_dom_sf
IPR043151	BAH_sf

PROSITE

PROSITE ID	PROSITE Term
PS51011	ARID

Pfam

Pfam ID	Pfam Term
PF01388	ARID

Gene: ARID5B

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction