CleftGeneDB-Search

Gene: GLI2

Basic information

Tag	Content
Uniprot ID	P10070; O60252; O60253; O60254; O60255; Q15590; Q15591; Q4JHT4;
Entrez ID	2736
Genbank protein ID	BAA25666.1; BAA25668.1; BAA03568.1; BAA03569.1; BAA25665.1; AAY87165.1; BAA25667.1; AAA35898.1;
Genbank nucleotide ID	NM_005270.4
Ensembl protein ID	ENSP00000390436; ENSP00000354586;
Ensembl nucleotide ID	ENSG00000074047
Gene name	Zinc finger protein GLI2
Gene symbol	GLI2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	16953426
Functional description	Functions as transcription regulator in the hedgehog (Hh) pathway (PubMed:18455992, PubMed:26565916). Functions as transcriptional activator (PubMed:9557682, PubMed:19878745, PubMed:24311597). May also function as transcriptional repressor (By similarity). Requires STK36 for full transcriptional activator activity. Required for normal embryonic development (PubMed:15994174, PubMed:20685856).
Sequence	METSASATAS EKQEAKSGIL EAAGFPDPGK KASPLVVAAA AAAAVAAQGV PQHLLPPFHA 60 PLPIDMRHQE GRYHYEPHSV HGVHGPPALS GSPVISDISL IRLSPHPAGP GESPFNAPHP 120 YVNPHMEHYL RSVHSSPTLS MISAARGLSP ADVAQEHLKE RGLFGLPAPG TTPSDYYHQM 180 TLVAGHPAPY GDLLMQSGGA ASAPHLHDYL NPVDVSRFSS PRVTPRLSRK RALSISPLSD 240 ASLDLQRMIR TSPNSLVAYI NNSRSSSAAS GSYGHLSAGA LSPAFTFPHP INPVAYQQIL 300 SQQRGLGSAF GHTPPLIQPS PTFLAQQPMA LTSINATPTQ LSSSSNCLSD TNQNKQSSES 360 AVSSTVNPVA IHKRSKVKTE PEGLRPASPL ALTQGQVSGH GSCGCALPLS QEQLADLKED 420 LDRDDCKQEA EVVIYETNCH WEDCTKEYDT QEQLVHHINN EHIHGEKKEF VCRWQACTRE 480 QKPFKAQYML VVHMRRHTGE KPHKCTFEGC SKAYSRLENL KTHLRSHTGE KPYVCEHEGC 540 NKAFSNASDR AKHQNRTHSN EKPYICKIPG CTKRYTDPSS LRKHVKTVHG PDAHVTKKQR 600 NDVHLRTPLL KENGDSEAGT EPGGPESTEA SSTSQAVEDC LHVRAIKTES SGLCQSSPGA 660 QSSCSSEPSP LGSAPNNDSG VEMPGTGPGS LGDLTALDDT PPGADTSALA APSAGGLQLR 720 KHMTTMHRFE QLKKEKLKSL KDSCSWAGPT PHTRNTKLPP LPGSGSILEN FSGSGGGGPA 780 GLLPNPRLSE LSASEVTMLS QLQERRDSST STVSSAYTVS RRSSGISPYF SSRRSSEASP 840 LGAGRPHNAS SADSYDPIST DASRRSSEAS QCSGGSGLLN LTPAQQYSLR AKYAAATGGP 900 PPTPLPGLER MSLRTRLALL DAPERTLPAG CPRPLGPRRG SDGPTYGHGH AGAAPAFPHE 960 APGGGARRAS DPVRRPDALS LPRVQRFHST HNVNPGPLPP CADRRGLRLQ SHPSTDGGLA 1020 RGAYSPRPPS ISENVAMEAV AAGVDGAGPE ADLGLPEDDL VLPDDVVQYI KAHASGALDE 1080 GTGQVYPTES TGFSDNPRLP SPGLHGQRRM VAADSNVGPS APMLGGCQLG FGAPSSLNKN 1140 NMPVQWNEVS SGTVDALASQ VKPPPFPQGN LAVVQQKPAF GQYPGYSPQG LQASPGGLDS 1200 TQPHLQPRSG APSQGIPRVN YMQQLRQPVA GSQCPGMTTT MSPHACYGQV HPQLSPSTIS 1260 GALNQFPQSC SNMPAKPGHL GHPQQTEVAP DPTTMGNRHR ELGVPDSALA GVPPPHPVQS 1320 YPQQSHHLAA SMSQEGYHQV PSLLPARQPG FMEPQTGPMG VATAGFGLVQ PRPPLEPSPT 1380 GRHRGVRAVQ QQLAYARATG HAMAAMPSSQ ETAEAVPKGA MGNMGSVPPQ PPPQDAGGAP 1440 DHSMLYYYGQ IHMYEQDGGL ENLGSCQVMR SQPPQPQACQ DSIQPQPLPS PGVNQVSSTV 1500 DSQLLEAPQI DFDAIMDDGD HSSLFSGALS PSLLHSLSQN SSRLTTPRNS LTLPSIPAGI 1560 SNMAVGDMSS MLTSLAEESK FLNMMT 1586

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	GLI2	102178402	A0A452F0Y2			Capra hircus	Prediction	More>>
1:1 ortholog	GLI2	2736	P10070			Homo sapiens	Publication	More>>
1:1 ortholog	Gli2	14633	Q0VGT2	CPO	E11.5, E13.0, E14.5	Mus musculus	Publication	More>>
1:1 ortholog	GLI2		A0A2I3SWC0			Pan troglodytes	Prediction	More>>
1:1 ortholog	GLI2	100520334	F1RXX4			Sus scrofa	Prediction	More>>
1:1 ortholog	GLI2		G1SDR5			Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Gli2	304729	F1M2B7			Rattus norvegicus	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
GLI2	c.2125del; p.Leu709Trpfs*15 (heterozygous)	targeted NGS custom gene panel and Sanger sequencing	30583238
GLI2	c.2684C>T; p.Ala895Val; c.4350G>T; p.Gln1450His; and c.4622C>A; p.Ser1541Tyr (triple compound heterozygous)	WES and Sanger sequencing	31386309

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs749244227	p.Thr3Ala	missense variant	-	NC_000002.12:g.120797327A>G	ExAC,gnomAD
rs770918439	p.Thr3Met	missense variant	-	NC_000002.12:g.120797328C>T	ExAC,TOPMed,gnomAD
rs1442637375	p.Ser4Phe	missense variant	-	NC_000002.12:g.120797331C>T	gnomAD
rs745963460	p.Ala5Thr	missense variant	-	NC_000002.12:g.120797333G>A	ExAC,gnomAD
rs772252117	p.Ser6Leu	missense variant	-	NC_000002.12:g.120797337C>T	ExAC,gnomAD
rs1262659333	p.Ala7Val	missense variant	-	NC_000002.12:g.120797340C>T	TOPMed
rs574656730	p.Glu11Lys	missense variant	-	NC_000002.12:g.120797351G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs764422727	p.Glu11Asp	missense variant	-	NC_000002.12:g.120797353G>C	ExAC,gnomAD
COSM4941074	p.Glu11Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120797353G>T	NCI-TCGA Cosmic
rs1175916421	p.Ala15Val	missense variant	-	NC_000002.12:g.120797364C>T	gnomAD
NCI-TCGA novel	p.Ser17ValPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.120797366A>-	NCI-TCGA
rs762016048	p.Gly18Glu	missense variant	-	NC_000002.12:g.120797373G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly18Val	missense variant	-	NC_000002.12:g.120797373G>T	NCI-TCGA
rs750880487	p.Ile19Asn	missense variant	-	NC_000002.12:g.120797376T>A	ExAC,gnomAD
rs1309816028	p.Leu20Pro	missense variant	-	NC_000002.12:g.120797379T>C	gnomAD
rs754532059	p.Leu20Val	missense variant	-	NC_000002.12:g.120797378C>G	ExAC,TOPMed,gnomAD
rs766983639	p.Glu21Gln	missense variant	-	NC_000002.12:g.120797381G>C	ExAC,gnomAD
rs766983639	p.Glu21Lys	missense variant	-	NC_000002.12:g.120797381G>A	ExAC,gnomAD
rs201834541	p.Ala23Thr	missense variant	-	NC_000002.12:g.120797387G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1234816850	p.Pro26Arg	missense variant	-	NC_000002.12:g.120797397C>G	TOPMed
COSM3565887	p.Pro26Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120797396C>T	NCI-TCGA Cosmic
rs752505618	p.Asp27Tyr	missense variant	-	NC_000002.12:g.120797399G>T	ExAC,TOPMed,gnomAD
rs752505618	p.Asp27Asn	missense variant	-	NC_000002.12:g.120797399G>A	ExAC,TOPMed,gnomAD
rs778954239	p.Pro28Leu	missense variant	-	NC_000002.12:g.120797403C>T	ExAC,gnomAD
rs772341885	p.Gly29Asp	missense variant	-	NC_000002.12:g.120797406G>A	ExAC,TOPMed,gnomAD
rs201053024	p.Lys30Gln	missense variant	-	NC_000002.12:g.120797408A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys31Arg	missense variant	-	NC_000002.12:g.120797412A>G	NCI-TCGA
NCI-TCGA novel	p.Lys31ArgPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.120797408A>-	NCI-TCGA
rs1013531220	p.Ala32Thr	missense variant	-	NC_000002.12:g.120797414G>A	TOPMed,gnomAD
rs1013531220	p.Ala32Ser	missense variant	-	NC_000002.12:g.120797414G>T	TOPMed,gnomAD
rs1477842571	p.Ala32Gly	missense variant	-	NC_000002.12:g.120797415C>G	gnomAD
NCI-TCGA novel	p.Ser33Cys	missense variant	-	NC_000002.12:g.120797418C>G	NCI-TCGA
NCI-TCGA novel	p.Leu35Phe	missense variant	-	NC_000002.12:g.120797425G>C	NCI-TCGA
NCI-TCGA novel	p.Leu35Phe	missense variant	-	NC_000002.12:g.120797425G>T	NCI-TCGA
rs1372666702	p.Val36Leu	missense variant	-	NC_000002.12:g.120797426G>T	TOPMed
rs768926635	p.Val37Met	missense variant	-	NC_000002.12:g.120797429G>A	ExAC,gnomAD
rs1403966758	p.Ala38Thr	missense variant	-	NC_000002.12:g.120797432G>A	TOPMed,gnomAD
COSM1005987	p.Ala38Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120797433C>T	NCI-TCGA Cosmic
rs1448772862	p.Ala39Val	missense variant	-	NC_000002.12:g.120797436C>T	TOPMed
rs146868972	p.Ala40Glu	missense variant	-	NC_000002.12:g.120797439C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146868972	p.Ala40Val	missense variant	-	NC_000002.12:g.120797439C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776675838	p.Ala40Thr	missense variant	-	NC_000002.12:g.120797438G>A	ExAC,TOPMed,gnomAD
rs1444450120	p.Ala41Thr	missense variant	-	NC_000002.12:g.120797441G>A	gnomAD
rs765497124	p.Ala42Val	missense variant	-	NC_000002.12:g.120797445C>T	ExAC,TOPMed,gnomAD
rs1232098625	p.Ala43Val	missense variant	-	NC_000002.12:g.120797448C>T	TOPMed,gnomAD
rs200095340	p.Ala44Val	missense variant	-	NC_000002.12:g.120797451C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs752220445	p.Ala46Thr	missense variant	-	NC_000002.12:g.120797456G>A	ExAC,TOPMed,gnomAD
rs990168694	p.Ala47Val	missense variant	-	NC_000002.12:g.120797460C>T	TOPMed
NCI-TCGA novel	p.Ala47Thr	missense variant	-	NC_000002.12:g.120797459G>A	NCI-TCGA
rs1257815002	p.Ala47Ser	missense variant	-	NC_000002.12:g.120797459G>T	gnomAD
rs755515251	p.Gln48Glu	missense variant	-	NC_000002.12:g.120797462C>G	ExAC,TOPMed,gnomAD
rs755515251	p.Gln48Ter	stop gained	-	NC_000002.12:g.120797462C>T	ExAC,TOPMed,gnomAD
rs1463824757	p.Gln48Arg	missense variant	-	NC_000002.12:g.120797463A>G	TOPMed
rs1348627341	p.Val50Met	missense variant	-	NC_000002.12:g.120797468G>A	TOPMed,gnomAD
rs780172791	p.Pro51Leu	missense variant	-	NC_000002.12:g.120927364C>T	ExAC,TOPMed,gnomAD
rs780172791	p.Pro51Arg	missense variant	-	NC_000002.12:g.120927364C>G	ExAC,TOPMed,gnomAD
COSM1005989	p.Pro51Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120927363C>T	NCI-TCGA Cosmic
rs755135160	p.His53Arg	missense variant	-	NC_000002.12:g.120927370A>G	ExAC
rs971730244	p.His53Asp	missense variant	-	NC_000002.12:g.120927369C>G	TOPMed
rs781117793	p.Leu54Val	missense variant	-	NC_000002.12:g.120927372C>G	ExAC,gnomAD
rs748468288	p.Pro56Thr	missense variant	-	NC_000002.12:g.120927378C>A	ExAC,TOPMed,gnomAD
rs141890398	p.Pro56Leu	missense variant	-	NC_000002.12:g.120927379C>T	ESP
NCI-TCGA novel	p.Phe58Leu	missense variant	-	NC_000002.12:g.120927386C>G	NCI-TCGA
rs777912029	p.His59Arg	missense variant	-	NC_000002.12:g.120927388A>G	ExAC,gnomAD
rs540925998	p.Ala60Pro	missense variant	-	NC_000002.12:g.120927390G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1216175506	p.Ala60Glu	missense variant	-	NC_000002.12:g.120927391C>A	TOPMed,gnomAD
rs1216175506	p.Ala60Val	missense variant	-	NC_000002.12:g.120927391C>T	TOPMed,gnomAD
rs540925998	p.Ala60Thr	missense variant	-	NC_000002.12:g.120927390G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1486772738	p.Pro61Thr	missense variant	-	NC_000002.12:g.120927393C>A	gnomAD
rs147224778	p.Pro63Leu	missense variant	-	NC_000002.12:g.120927400C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147224778	p.Pro63Gln	missense variant	-	NC_000002.12:g.120927400C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1381958760	p.Met66Thr	missense variant	-	NC_000002.12:g.120927409T>C	gnomAD
rs768282760	p.Met66Val	missense variant	-	NC_000002.12:g.120927408A>G	ExAC,gnomAD
rs776012263	p.Arg67Gln	missense variant	-	NC_000002.12:g.120927412G>A	ExAC,TOPMed,gnomAD
rs1440006888	p.Arg67Ter	stop gained	-	NC_000002.12:g.120927411C>T	gnomAD
rs776012263	p.Arg67Pro	missense variant	-	NC_000002.12:g.120927412G>C	ExAC,TOPMed,gnomAD
rs1358300603	p.Gln69Arg	missense variant	-	NC_000002.12:g.120927418A>G	gnomAD
rs761330896	p.Glu70Gln	missense variant	-	NC_000002.12:g.120927420G>C	ExAC,gnomAD
rs761330896	p.Glu70Lys	missense variant	-	NC_000002.12:g.120927420G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg72Lys	missense variant	-	NC_000002.12:g.120927427G>A	NCI-TCGA
rs1302961678	p.Tyr73Phe	missense variant	-	NC_000002.12:g.120927430A>T	gnomAD
rs201945889	p.His74Tyr	missense variant	-	NC_000002.12:g.120927432C>T	ESP,ExAC,TOPMed,gnomAD
rs377700501	p.His74Arg	missense variant	-	NC_000002.12:g.120927433A>G	ESP,ExAC,TOPMed,gnomAD
rs762881299	p.His74Gln	missense variant	-	NC_000002.12:g.120927434T>A	ExAC,gnomAD
rs751570899	p.Tyr75Ter	stop gained	-	NC_000002.12:g.120927437C>A	ExAC,TOPMed,gnomAD
rs545152026	p.Glu76Lys	missense variant	-	NC_000002.12:g.120927438G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs767419996	p.Pro77Leu	missense variant	-	NC_000002.12:g.120927442C>T	ExAC,gnomAD
rs1052944701	p.His78Tyr	missense variant	-	NC_000002.12:g.120927444C>T	TOPMed
COSM3565888	p.His78Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120927446T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser79Tyr	missense variant	-	NC_000002.12:g.120927448C>A	NCI-TCGA
rs1388007950	p.Ser79Phe	missense variant	-	NC_000002.12:g.120927448C>T	gnomAD
NCI-TCGA novel	p.Val80ThrPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.120927447_120927450TCTG>-	NCI-TCGA
rs531807595	p.Gly82Ser	missense variant	-	NC_000002.12:g.120927456G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM3565889	p.Gly82Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120927457G>A	NCI-TCGA Cosmic
rs999987091	p.Val83Ala	missense variant	-	NC_000002.12:g.120927460T>C	gnomAD
rs777998245	p.Val83Met	missense variant	-	NC_000002.12:g.120927459G>A	ExAC,TOPMed,gnomAD
rs1201695981	p.His84Tyr	missense variant	-	NC_000002.12:g.120927462C>T	gnomAD
COSM1481899	p.His84Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120927464C>G	NCI-TCGA Cosmic
COSM716024	p.His84Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120927464C>A	NCI-TCGA Cosmic
rs200540682	p.Gly85Arg	missense variant	-	NC_000002.12:g.120927465G>A	ExAC,TOPMed,gnomAD
rs757479194	p.Pro86Leu	missense variant	-	NC_000002.12:g.120951245C>T	ExAC,TOPMed,gnomAD
COSM6087257	p.Pro86His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120951245C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro87LeuPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.120951244C>-	NCI-TCGA
COSM1690998	p.Pro87Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120951247C>T	NCI-TCGA Cosmic
rs779428379	p.Ala88Asp	missense variant	-	NC_000002.12:g.120951251C>A	gnomAD
rs1317321309	p.Ser90Arg	missense variant	-	NC_000002.12:g.120951256A>C	TOPMed,gnomAD
rs540240518	p.Gly91Ser	missense variant	-	NC_000002.12:g.120951259G>A	1000Genomes,ExAC,gnomAD
rs1323424391	p.Ser92Arg	missense variant	-	NC_000002.12:g.120951264C>A	gnomAD
COSM70906	p.Ser92Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120951263G>A	NCI-TCGA Cosmic
rs1222100502	p.Pro93Ala	missense variant	-	NC_000002.12:g.120951265C>G	gnomAD
rs780467517	p.Ile95Met	missense variant	-	NC_000002.12:g.120951273C>G	ExAC,TOPMed,gnomAD
COSM3565890	p.Ser96Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120951275C>T	NCI-TCGA Cosmic
rs1050289427	p.Ile98Phe	missense variant	-	NC_000002.12:g.120951280A>T	TOPMed,gnomAD
rs1050289427	p.Ile98Val	missense variant	-	NC_000002.12:g.120951280A>G	TOPMed,gnomAD
rs148442092	p.Arg102Leu	missense variant	-	NC_000002.12:g.120951293G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148442092	p.Arg102Pro	missense variant	-	NC_000002.12:g.120951293G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368449972	p.Arg102Trp	missense variant	-	NC_000002.12:g.120951292C>T	ESP,ExAC,TOPMed,gnomAD
rs148442092	p.Arg102Gln	missense variant	-	NC_000002.12:g.120951293G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748739602	p.Leu103Pro	missense variant	-	NC_000002.12:g.120951296T>C	ExAC,gnomAD
rs748739602	p.Leu103His	missense variant	-	NC_000002.12:g.120951296T>A	ExAC,gnomAD
rs1348461474	p.Pro105Ser	missense variant	-	NC_000002.12:g.120951301C>T	gnomAD
rs370693310	p.Pro105Leu	missense variant	-	NC_000002.12:g.120951302C>T	ESP,ExAC,TOPMed,gnomAD
rs759277639	p.His106Gln	missense variant	-	NC_000002.12:g.120951306C>A	ExAC,gnomAD
rs767309313	p.Pro107Ala	missense variant	-	NC_000002.12:g.120951307C>G	ExAC,TOPMed
rs374562179	p.Pro107Leu	missense variant	-	NC_000002.12:g.120951308C>T	ESP,ExAC,TOPMed,gnomAD
rs574293436	p.Ala108Thr	missense variant	-	NC_000002.12:g.120951310G>A	1000Genomes,ExAC,gnomAD
rs1381307821	p.Gly109Val	missense variant	-	NC_000002.12:g.120951314G>T	gnomAD
rs143139718	p.Pro110Ser	missense variant	-	NC_000002.12:g.120951316C>T	ESP,TOPMed,gnomAD
rs753931354	p.Pro110Arg	missense variant	-	NC_000002.12:g.120951317C>G	ExAC,gnomAD
rs143139718	p.Pro110Ala	missense variant	-	NC_000002.12:g.120951316C>G	ESP,TOPMed,gnomAD
rs753931354	p.Pro110Leu	missense variant	-	NC_000002.12:g.120951317C>T	ExAC,gnomAD
rs1183446012	p.Gly111Glu	missense variant	-	NC_000002.12:g.120951320G>A	TOPMed
NCI-TCGA novel	p.Glu112Lys	missense variant	-	NC_000002.12:g.120951322G>A	NCI-TCGA
rs1356938307	p.Pro114Arg	missense variant	-	NC_000002.12:g.120951329C>G	gnomAD
rs775984106	p.Ala117Thr	missense variant	-	NC_000002.12:g.120951337G>A	ExAC,TOPMed,gnomAD
rs750629679	p.Ala117Gly	missense variant	-	NC_000002.12:g.120951338C>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro118Ala	missense variant	-	NC_000002.12:g.120951340C>G	NCI-TCGA
rs940582075	p.Pro118Ser	missense variant	-	NC_000002.12:g.120951340C>T	TOPMed,gnomAD
rs758739873	p.Pro118Arg	missense variant	-	NC_000002.12:g.120951341C>G	ExAC,gnomAD
NCI-TCGA novel	p.His119ThrPheSerTerUnk	frameshift	-	NC_000002.12:g.120951338C>-	NCI-TCGA
rs780453822	p.His119Asp	missense variant	-	NC_000002.12:g.120951343C>G	ExAC,TOPMed,gnomAD
rs1473431556	p.His119Arg	missense variant	-	NC_000002.12:g.120951344A>G	gnomAD
rs780453822	p.His119Asn	missense variant	-	NC_000002.12:g.120951343C>A	ExAC,TOPMed,gnomAD
rs905463731	p.Pro120Leu	missense variant	-	NC_000002.12:g.120951347C>T	TOPMed,gnomAD
COSM6046759	p.Pro120Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120951347C>A	NCI-TCGA Cosmic
rs748827715	p.Tyr121Ter	stop gained	-	NC_000002.12:g.120951351C>G	ExAC,gnomAD
rs778467271	p.Val122Met	missense variant	-	NC_000002.12:g.120951352G>A	ExAC,TOPMed,gnomAD
rs778467271	p.Val122Leu	missense variant	-	NC_000002.12:g.120951352G>T	ExAC,TOPMed,gnomAD
rs771817329	p.Pro124Ala	missense variant	-	NC_000002.12:g.120951358C>G	ExAC,gnomAD
rs1380215998	p.Met126Ile	missense variant	-	NC_000002.12:g.120951366G>A	TOPMed
rs775273286	p.Met126Val	missense variant	-	NC_000002.12:g.120951364A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu127SerPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.120951366G>-	NCI-TCGA
rs895231080	p.His128Tyr	missense variant	-	NC_000002.12:g.120951370C>T	TOPMed
NCI-TCGA novel	p.Tyr129Phe	missense variant	-	NC_000002.12:g.120951374A>T	NCI-TCGA
NCI-TCGA novel	p.Leu130Pro	missense variant	-	NC_000002.12:g.120951377T>C	NCI-TCGA
rs760408401	p.Arg131Gly	missense variant	-	NC_000002.12:g.120951379C>G	ExAC,TOPMed,gnomAD
rs149180414	p.Arg131His	missense variant	-	NC_000002.12:g.120951380G>A	ESP,ExAC,TOPMed,gnomAD
rs760408401	p.Arg131Cys	missense variant	-	NC_000002.12:g.120951379C>T	ExAC,TOPMed,gnomAD
rs369649251	p.Ser132Tyr	missense variant	-	NC_000002.12:g.120951383C>A	ESP,ExAC,gnomAD
rs374071898	p.His134Tyr	missense variant	-	NC_000002.12:g.120951388C>T	ESP,ExAC,gnomAD
rs1364039736	p.Ser135Gly	missense variant	-	NC_000002.12:g.120951391A>G	TOPMed
rs750668915	p.Ser135Arg	missense variant	-	NC_000002.12:g.120951393C>G	ExAC,TOPMed,gnomAD
rs763231787	p.Pro137Ser	missense variant	-	NC_000002.12:g.120951397C>T	ExAC,gnomAD
rs763231787	p.Pro137Thr	missense variant	-	NC_000002.12:g.120951397C>A	ExAC,gnomAD
rs148317983	p.Thr138Met	missense variant	-	NC_000002.12:g.120951401C>T	ESP,ExAC,TOPMed,gnomAD
rs1241902793	p.Leu139Phe	missense variant	-	NC_000002.12:g.120951403C>T	gnomAD
rs1459472259	p.Ser143Pro	missense variant	-	NC_000002.12:g.120951415T>C	gnomAD
COSM6087256	p.Ser143Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120951415T>A	NCI-TCGA Cosmic
rs755345187	p.Gly147Val	missense variant	-	NC_000002.12:g.120951428G>T	ExAC,TOPMed,gnomAD
rs1380038093	p.Gly147Cys	missense variant	-	NC_000002.12:g.120951427G>T	gnomAD
rs1019196430	p.Leu148Phe	missense variant	-	NC_000002.12:g.120951430C>T	TOPMed,gnomAD
rs968089585	p.Ser149Gly	missense variant	-	NC_000002.12:g.120951433A>G	TOPMed
rs781771721	p.Ala151Pro	missense variant	-	NC_000002.12:g.120951439G>C	ExAC,TOPMed,gnomAD
rs1334776936	p.Ala151Val	missense variant	-	NC_000002.12:g.120951440C>T	gnomAD
rs781771721	p.Ala151Thr	missense variant	-	NC_000002.12:g.120951439G>A	ExAC,TOPMed,gnomAD
rs1197481825	p.His157Tyr	missense variant	-	NC_000002.12:g.120955256C>T	gnomAD
NCI-TCGA novel	p.His157Asp	missense variant	-	NC_000002.12:g.120955256C>G	NCI-TCGA
rs757809797	p.Lys159Asn	missense variant	-	NC_000002.12:g.120955264G>C	ExAC
rs1357449520	p.Lys159Thr	missense variant	-	NC_000002.12:g.120955263A>C	TOPMed
rs1265447957	p.Glu160Lys	missense variant	-	NC_000002.12:g.120955265G>A	gnomAD
COSM716022	p.Arg161Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120955269G>A	NCI-TCGA Cosmic
rs201413039	p.Gly162Arg	missense variant	-	NC_000002.12:g.120955271G>A	1000Genomes,ExAC,gnomAD
rs746643815	p.Leu163Gln	missense variant	-	NC_000002.12:g.120955275T>A	ExAC,TOPMed,gnomAD
rs780961532	p.Gly165Asp	missense variant	-	NC_000002.12:g.120955281G>A	ExAC,gnomAD
rs922060710	p.Gly165Cys	missense variant	-	NC_000002.12:g.120955280G>T	TOPMed
COSM4084547	p.Leu166Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120955283C>T	NCI-TCGA Cosmic
rs769784117	p.Pro167Ser	missense variant	-	NC_000002.12:g.120955286C>T	ExAC,gnomAD
rs769784117	p.Pro167Thr	missense variant	-	NC_000002.12:g.120955286C>A	ExAC,gnomAD
rs749416157	p.Ala168Ser	missense variant	-	NC_000002.12:g.120955289G>T	ExAC,gnomAD
rs1400143753	p.Gly170Arg	missense variant	-	NC_000002.12:g.120955295G>C	gnomAD
rs1400143753	p.Gly170Ser	missense variant	-	NC_000002.12:g.120955295G>A	gnomAD
rs200720726	p.Thr172Asn	missense variant	-	NC_000002.12:g.120955302C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs768057626	p.Asp175Gly	missense variant	-	NC_000002.12:g.120955311A>G	ExAC,gnomAD
rs1323089668	p.His178Asn	missense variant	-	NC_000002.12:g.120955319C>A	TOPMed
rs1323089668	p.His178Tyr	missense variant	-	NC_000002.12:g.120955319C>T	TOPMed
rs760903616	p.Met180Thr	missense variant	-	NC_000002.12:g.120955326T>C	ExAC,TOPMed,gnomAD
rs565813552	p.Met180Leu	missense variant	-	NC_000002.12:g.120955325A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs760903616	p.Met180Lys	missense variant	-	NC_000002.12:g.120955326T>A	ExAC,TOPMed,gnomAD
rs754272697	p.Val183Met	missense variant	-	NC_000002.12:g.120955334G>A	ExAC,TOPMed,gnomAD
rs754272697	p.Val183Leu	missense variant	-	NC_000002.12:g.120955334G>C	ExAC,TOPMed,gnomAD
rs147419287	p.Ala188Val	missense variant	-	NC_000002.12:g.120955350C>T	ESP,ExAC,TOPMed,gnomAD
rs138974360	p.Ala188Thr	missense variant	-	NC_000002.12:g.120955349G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1350284317	p.Pro189Leu	missense variant	-	NC_000002.12:g.120955353C>T	gnomAD
rs1161429205	p.Pro189Ser	missense variant	-	NC_000002.12:g.120955352C>T	gnomAD
rs202141899	p.Gly191Arg	missense variant	-	NC_000002.12:g.120955358G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201235005	p.Met195Ile	missense variant	-	NC_000002.12:g.120955372G>A	1000Genomes
COSM1005992	p.Met195Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120955370A>G	NCI-TCGA Cosmic
rs35193793	p.Gln196His	missense variant	-	NC_000002.12:g.120955375G>C	gnomAD
rs1335366657	p.Gln196Lys	missense variant	-	NC_000002.12:g.120955373C>A	gnomAD
rs556019545	p.Ser197Asn	missense variant	-	NC_000002.12:g.120955377G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs556019545	p.Ser197Thr	missense variant	-	NC_000002.12:g.120955377G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs745872978	p.Ser197Arg	missense variant	-	NC_000002.12:g.120955378C>G	ExAC,TOPMed,gnomAD
rs567800401	p.Gly198Arg	missense variant	-	NC_000002.12:g.120955379G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1331531799	p.Gly199Asp	missense variant	-	NC_000002.12:g.120955383G>A	TOPMed
rs542892514	p.Gly199Ser	missense variant	-	NC_000002.12:g.120955382G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs111840592	p.Ala200Thr	missense variant	-	NC_000002.12:g.120955385G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147044066	p.Ala203Thr	missense variant	-	NC_000002.12:g.120955394G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1399406886	p.Ala203Val	missense variant	-	NC_000002.12:g.120955395C>T	TOPMed
rs1280539932	p.Pro204Ser	missense variant	-	NC_000002.12:g.120955397C>T	gnomAD
rs767227926	p.His207Gln	missense variant	-	NC_000002.12:g.120955408C>G	ExAC,TOPMed,gnomAD
rs767227926	p.His207Gln	missense variant	-	NC_000002.12:g.120955408C>A	ExAC,TOPMed,gnomAD
rs1021891477	p.Asp208Asn	missense variant	-	NC_000002.12:g.120955409G>A	TOPMed,gnomAD
rs1157846277	p.Asn211Asp	missense variant	-	NC_000002.12:g.120955418A>G	gnomAD
rs1234597039	p.Pro212Ala	missense variant	-	NC_000002.12:g.120955421C>G	gnomAD
rs202139687	p.Val213Leu	missense variant	-	NC_000002.12:g.120955424G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757261582	p.Val213Ala	missense variant	-	NC_000002.12:g.120955425T>C	ExAC,gnomAD
rs202139687	p.Val213Met	missense variant	-	NC_000002.12:g.120955424G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781426186	p.Val215Gly	missense variant	-	NC_000002.12:g.120968714T>G	ExAC,TOPMed,gnomAD
rs778948635	p.Val215Met	missense variant	-	NC_000002.12:g.120955430G>A	ExAC,gnomAD
rs145779352	p.Arg217His	missense variant	-	NC_000002.12:g.120968720G>A	ESP,ExAC,TOPMed,gnomAD
rs149819397	p.Arg217Gly	missense variant	-	NC_000002.12:g.120968719C>G	ESP,ExAC,TOPMed,gnomAD
rs149819397	p.Arg217Cys	missense variant	-	NC_000002.12:g.120968719C>T	ESP,ExAC,TOPMed,gnomAD
rs1244856449	p.Ser220Arg	missense variant	-	NC_000002.12:g.120968728A>C	TOPMed,gnomAD
rs868349213	p.Ser220Arg	missense variant	-	NC_000002.12:g.120968730C>G	TOPMed
rs771675078	p.Pro221Ser	missense variant	-	NC_000002.12:g.120968731C>T	ExAC,TOPMed,gnomAD
rs774865060	p.Pro221Leu	missense variant	-	NC_000002.12:g.120968732C>T	ExAC,gnomAD
rs763688196	p.Arg222Gly	missense variant	-	NC_000002.12:g.120968734C>G	ExAC,gnomAD
rs1213874652	p.Arg222Leu	missense variant	-	NC_000002.12:g.120968735G>T	gnomAD
rs763688196	p.Arg222Trp	missense variant	-	NC_000002.12:g.120968734C>T	ExAC,gnomAD
rs1293201291	p.Val223Met	missense variant	-	NC_000002.12:g.120968737G>A	TOPMed,gnomAD
rs1293201291	p.Val223Leu	missense variant	-	NC_000002.12:g.120968737G>T	TOPMed,gnomAD
rs370333257	p.Thr224Met	missense variant	-	NC_000002.12:g.120968741C>T	ESP,ExAC,TOPMed,gnomAD
rs765114744	p.Pro225Ala	missense variant	-	NC_000002.12:g.120968743C>G	ExAC,TOPMed,gnomAD
rs750454406	p.Pro225Leu	missense variant	-	NC_000002.12:g.120968744C>T	ExAC,gnomAD
rs758273853	p.Arg226Cys	missense variant	-	NC_000002.12:g.120968746C>T	ExAC,TOPMed,gnomAD
rs766283583	p.Arg226His	missense variant	-	NC_000002.12:g.120968747G>A	ExAC,TOPMed,gnomAD
COSM6153561	p.Leu227Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120968749C>A	NCI-TCGA Cosmic
rs751614251	p.Arg229Cys	missense variant	-	NC_000002.12:g.120968755C>T	ExAC,TOPMed,gnomAD
rs755043644	p.Arg229His	missense variant	-	NC_000002.12:g.120968756G>A	ExAC,TOPMed,gnomAD
rs781430951	p.Arg231Gly	missense variant	-	NC_000002.12:g.120968761C>G	ExAC,TOPMed,gnomAD
rs756527906	p.Arg231Gln	missense variant	-	NC_000002.12:g.120968762G>A	ExAC,gnomAD
rs781430951	p.Arg231Trp	missense variant	-	NC_000002.12:g.120968761C>T	ExAC,TOPMed,gnomAD
rs778102879	p.Ala232Val	missense variant	-	NC_000002.12:g.120968765C>T	ExAC,TOPMed,gnomAD
rs1163330892	p.Ala232Thr	missense variant	-	NC_000002.12:g.120968764G>A	gnomAD
rs1163351470	p.Ser234Ala	missense variant	-	NC_000002.12:g.120968770T>G	gnomAD
rs1344630169	p.Pro237Arg	missense variant	-	NC_000002.12:g.120968780C>G	gnomAD
rs774868889	p.Asp240Gly	missense variant	-	NC_000002.12:g.120968789A>G	ExAC,gnomAD
rs768192957	p.Ala241Thr	missense variant	-	NC_000002.12:g.120968791G>A	ExAC,TOPMed,gnomAD
rs1246514029	p.Asp244His	missense variant	-	NC_000002.12:g.120968800G>C	gnomAD
rs564228727	p.Asp244Val	missense variant	-	NC_000002.12:g.120968801A>T	1000Genomes,ExAC,gnomAD
COSM3894651	p.Asp244Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120968801A>G	NCI-TCGA Cosmic
rs372967229	p.Leu245Met	missense variant	-	NC_000002.12:g.120968803C>A	ESP,ExAC,gnomAD
rs1259680584	p.Gln246Leu	missense variant	-	NC_000002.12:g.120968807A>T	TOPMed
rs138556334	p.Arg247Trp	missense variant	-	NC_000002.12:g.120968809C>T	ESP,ExAC,gnomAD
rs1445852776	p.Arg247Gln	missense variant	-	NC_000002.12:g.120968810G>A	TOPMed,gnomAD
rs762762887	p.Met248Val	missense variant	-	NC_000002.12:g.120968812A>G	ExAC,gnomAD
rs1239783603	p.Ile249Thr	missense variant	-	NC_000002.12:g.120968816T>C	gnomAD
rs766257727	p.Thr251Ser	missense variant	-	NC_000002.12:g.120968821A>T	ExAC,gnomAD
rs751482056	p.Pro253Ser	missense variant	-	NC_000002.12:g.120968827C>T	ExAC,gnomAD
rs755062619	p.Asn254Ser	missense variant	-	NC_000002.12:g.120968831A>G	ExAC,TOPMed,gnomAD
rs767570213	p.Ser255Leu	missense variant	-	NC_000002.12:g.120968834C>T	ExAC,TOPMed,gnomAD
rs1408271855	p.Ala258Val	missense variant	-	NC_000002.12:g.120968843C>T	gnomAD
rs543734429	p.Ile260Val	missense variant	-	NC_000002.12:g.120968848A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs543734429	p.Ile260Leu	missense variant	-	NC_000002.12:g.120968848A>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM441058	p.Ile260Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120968850C>G	NCI-TCGA Cosmic
rs779340470	p.Asn262Ser	missense variant	-	NC_000002.12:g.120968855A>G	ExAC,TOPMed,gnomAD
rs746377399	p.Asn262Lys	missense variant	-	NC_000002.12:g.120968856C>A	ExAC,gnomAD
rs1279844511	p.Arg264Gln	missense variant	-	NC_000002.12:g.120968861G>A	gnomAD
rs1349492097	p.Ser265Arg	missense variant	-	NC_000002.12:g.120968863A>C	gnomAD
rs1227505337	p.Ser266Ile	missense variant	-	NC_000002.12:g.120968867G>T	gnomAD
rs146992756	p.Ala268Val	missense variant	-	NC_000002.12:g.120968873C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1261672861	p.Ala269Val	missense variant	-	NC_000002.12:g.120968876C>T	gnomAD
NCI-TCGA novel	p.Ala269Thr	missense variant	-	NC_000002.12:g.120968875G>A	NCI-TCGA
rs1182974996	p.Ser270Ile	missense variant	-	NC_000002.12:g.120968879G>T	gnomAD
rs144406619	p.Gly271Ser	missense variant	-	NC_000002.12:g.120968881G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His275IlePheSerTerUnkUnk	frameshift	-	NC_000002.12:g.120968890G>-	NCI-TCGA
rs552495842	p.Ser277Leu	missense variant	-	NC_000002.12:g.120968900C>T	1000Genomes,ExAC,gnomAD
rs759512271	p.Ala278Val	missense variant	-	NC_000002.12:g.120968903C>T	ExAC,TOPMed,gnomAD
rs1195630588	p.Gly279Cys	missense variant	-	NC_000002.12:g.120968905G>T	gnomAD
rs1329278333	p.Ala280Val	missense variant	-	NC_000002.12:g.120968909C>T	gnomAD
rs767371997	p.Ala280Thr	missense variant	-	NC_000002.12:g.120968908G>A	ExAC,TOPMed,gnomAD
rs767371997	p.Ala280Pro	missense variant	-	NC_000002.12:g.120968908G>C	ExAC,TOPMed,gnomAD
rs1385529467	p.Phe287Ser	missense variant	-	NC_000002.12:g.120970407T>C	gnomAD
NCI-TCGA novel	p.Pro288Ser	missense variant	-	NC_000002.12:g.120970409C>T	NCI-TCGA
rs1473799452	p.His289Pro	missense variant	-	NC_000002.12:g.120970413A>C	TOPMed
rs752088509	p.Pro290Leu	missense variant	-	NC_000002.12:g.120970416C>T	ExAC,gnomAD
rs200853289	p.Ile291Phe	missense variant	-	NC_000002.12:g.120970418A>T	TOPMed,gnomAD
rs200853289	p.Ile291Leu	missense variant	-	NC_000002.12:g.120970418A>C	TOPMed,gnomAD
COSM3565897	p.Pro293Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120970425C>T	NCI-TCGA Cosmic
rs367810027	p.Val294Met	missense variant	-	NC_000002.12:g.120970427G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr296Ter	missense variant	-	NC_000002.12:g.120970435C>G	NCI-TCGA
NCI-TCGA novel	p.Tyr296Ter	missense variant	-	NC_000002.12:g.120970435C>A	NCI-TCGA
rs748678120	p.Gln297Pro	missense variant	-	NC_000002.12:g.120970437A>C	ExAC,TOPMed,gnomAD
rs1357058931	p.Gln298Lys	missense variant	-	NC_000002.12:g.120970439C>A	gnomAD
rs371747744	p.Ile299Thr	missense variant	-	NC_000002.12:g.120970443T>C	ESP,ExAC,TOPMed,gnomAD
rs371747744	p.Ile299Asn	missense variant	-	NC_000002.12:g.120970443T>A	ESP,ExAC,TOPMed,gnomAD
rs746947997	p.Ser301Gly	missense variant	-	NC_000002.12:g.120970448A>G	ExAC,TOPMed,gnomAD
rs768416096	p.Ser301Arg	missense variant	-	NC_000002.12:g.120970450C>A	ExAC,TOPMed,gnomAD
rs746947997	p.Ser301Cys	missense variant	-	NC_000002.12:g.120970448A>T	ExAC,TOPMed,gnomAD
rs375328592	p.Gln302His	missense variant	-	NC_000002.12:g.120970453G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761750550	p.Gln303Pro	missense variant	-	NC_000002.12:g.120970455A>C	ExAC,gnomAD
rs765528898	p.Arg304Lys	missense variant	-	NC_000002.12:g.120970458G>A	ExAC,TOPMed,gnomAD
rs773277858	p.Gly305Ser	missense variant	-	NC_000002.12:g.120970460G>A	ExAC,TOPMed,gnomAD
rs773277858	p.Gly305Cys	missense variant	-	NC_000002.12:g.120970460G>T	ExAC,TOPMed,gnomAD
rs201331588	p.Gly307Arg	missense variant	-	NC_000002.12:g.120970466G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ala309Asp	missense variant	-	NC_000002.12:g.120970473C>A	NCI-TCGA
rs1243486087	p.Phe310Ser	missense variant	-	NC_000002.12:g.120970476T>C	gnomAD
NCI-TCGA novel	p.Gly311Glu	missense variant	-	NC_000002.12:g.120970479G>A	NCI-TCGA
NCI-TCGA novel	p.Gly311Arg	missense variant	-	NC_000002.12:g.120970478G>A	NCI-TCGA
rs746686990	p.Pro314Ser	missense variant	-	NC_000002.12:g.120970487C>T	ExAC,gnomAD
rs1161213308	p.Pro315Thr	missense variant	-	NC_000002.12:g.120970490C>A	gnomAD
rs367854976	p.Leu316Val	missense variant	-	NC_000002.12:g.120970493C>G	ESP,ExAC,TOPMed,gnomAD
rs755546739	p.Ile317Met	missense variant	-	NC_000002.12:g.120970498C>G	ExAC,TOPMed,gnomAD
rs767850109	p.Pro321Leu	missense variant	-	NC_000002.12:g.120970509C>T	ExAC,gnomAD
rs1383493075	p.Pro321Ala	missense variant	-	NC_000002.12:g.120970508C>G	TOPMed,gnomAD
rs1004316414	p.Phe323Ser	missense variant	-	NC_000002.12:g.120970515T>C	gnomAD
rs144970612	p.Leu324Pro	missense variant	-	NC_000002.12:g.120970518T>C	1000Genomes,ExAC,gnomAD
rs1206940501	p.Ala325Thr	missense variant	-	NC_000002.12:g.120970520G>A	TOPMed,gnomAD
rs745509639	p.Ala325Val	missense variant	-	NC_000002.12:g.120970521C>T	ExAC
COSM70907	p.Ala325Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120970520G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln326Lys	missense variant	-	NC_000002.12:g.120970523C>A	NCI-TCGA
rs377150486	p.Met329Leu	missense variant	-	NC_000002.12:g.120970532A>C	ESP,ExAC,TOPMed,gnomAD
rs377150486	p.Met329Val	missense variant	-	NC_000002.12:g.120970532A>G	ESP,ExAC,TOPMed,gnomAD
rs1259004125	p.Met329Thr	missense variant	-	NC_000002.12:g.120970533T>C	gnomAD
rs746753743	p.Ala330Asp	missense variant	-	NC_000002.12:g.120970536C>A	ExAC,gnomAD
rs768661123	p.Leu331Val	missense variant	-	NC_000002.12:g.120970538C>G	ExAC,TOPMed,gnomAD
rs1199076730	p.Thr332Ala	missense variant	-	NC_000002.12:g.120970541A>G	TOPMed
rs769741962	p.Ile334Val	missense variant	-	NC_000002.12:g.120970547A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asn335Ser	missense variant	-	NC_000002.12:g.120970551A>G	NCI-TCGA
rs142356900	p.Asn335Asp	missense variant	-	NC_000002.12:g.120970550A>G	ESP
rs1419274436	p.Thr337Met	missense variant	-	NC_000002.12:g.120970557C>T	gnomAD
rs773624892	p.Thr339Ser	missense variant	-	NC_000002.12:g.120970562A>T	ExAC,gnomAD
rs1361512980	p.Gln340Lys	missense variant	-	NC_000002.12:g.120970565C>A	gnomAD
rs1271783575	p.Gln340Arg	missense variant	-	NC_000002.12:g.120970566A>G	TOPMed
rs1186006851	p.Leu341Arg	missense variant	-	NC_000002.12:g.120970569T>G	TOPMed,gnomAD
rs1471252389	p.Ser342Arg	missense variant	-	NC_000002.12:g.120970573C>A	gnomAD
rs763261944	p.Ser344Gly	missense variant	-	NC_000002.12:g.120970577A>G	ExAC,gnomAD
rs766641468	p.Ser344Thr	missense variant	-	NC_000002.12:g.120970578G>C	ExAC,TOPMed,gnomAD
rs766641468	p.Ser344Asn	missense variant	-	NC_000002.12:g.120970578G>A	ExAC,TOPMed,gnomAD
rs1260054187	p.Thr351Ile	missense variant	-	NC_000002.12:g.120970599C>T	gnomAD
rs1367284256	p.Thr351Ser	missense variant	-	NC_000002.12:g.120970598A>T	TOPMed
rs774869560	p.Asn352Lys	missense variant	-	NC_000002.12:g.120970603C>G	ExAC,TOPMed,gnomAD
rs774869560	p.Asn352Lys	missense variant	-	NC_000002.12:g.120970603C>A	ExAC,TOPMed,gnomAD
rs1294621829	p.Ser357Gly	missense variant	-	NC_000002.12:g.120971950A>G	TOPMed
rs1382389036	p.Ser358Arg	missense variant	-	NC_000002.12:g.120971953A>C	TOPMed
rs745666636	p.Ser360Leu	missense variant	-	NC_000002.12:g.120971960C>T	ExAC,TOPMed,gnomAD
rs751191667	p.Ser360Pro	missense variant	-	NC_000002.12:g.120971959T>C	ExAC,gnomAD
rs370677655	p.Val362Ile	missense variant	-	NC_000002.12:g.120971965G>A	ESP,ExAC,TOPMed,gnomAD
rs370677655	p.Val362Leu	missense variant	-	NC_000002.12:g.120971965G>C	ESP,ExAC,TOPMed,gnomAD
rs1415148371	p.Ser364Gly	missense variant	-	NC_000002.12:g.120971971A>G	gnomAD
rs1287694586	p.Ser364Asn	missense variant	-	NC_000002.12:g.120971972G>A	gnomAD
rs779324521	p.Val366Ile	missense variant	-	NC_000002.12:g.120971977G>A	ExAC,TOPMed,gnomAD
rs746061778	p.Pro368Ala	missense variant	-	NC_000002.12:g.120971983C>G	ExAC,gnomAD
rs377454502	p.Val369Ala	missense variant	-	NC_000002.12:g.120971987T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala370Val	missense variant	-	NC_000002.12:g.120971990C>T	NCI-TCGA
rs199931941	p.Ala370Thr	missense variant	-	NC_000002.12:g.120971989G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1199044920	p.Lys373Asn	missense variant	-	NC_000002.12:g.120972000G>C	TOPMed
rs200076785	p.Arg374Cys	missense variant	-	NC_000002.12:g.120972001C>T	ExAC,TOPMed,gnomAD
rs370220133	p.Arg374His	missense variant	-	NC_000002.12:g.120972002G>A	ESP,ExAC,TOPMed,gnomAD
rs1361186300	p.Ser375Gly	missense variant	-	NC_000002.12:g.120972004A>G	gnomAD
rs751294369	p.Thr379Asn	missense variant	-	NC_000002.12:g.120972017C>A	ExAC,TOPMed,gnomAD
rs374155310	p.Glu380Ter	stop gained	-	NC_000002.12:g.120972019G>T	ESP,ExAC,TOPMed,gnomAD
rs374155310	p.Glu380Gln	missense variant	-	NC_000002.12:g.120972019G>C	ESP,ExAC,TOPMed,gnomAD
rs374155310	p.Glu380Lys	missense variant	-	NC_000002.12:g.120972019G>A	ESP,ExAC,TOPMed,gnomAD
rs367665653	p.Glu382Gly	missense variant	-	NC_000002.12:g.120972026A>G	ESP,ExAC,gnomAD
rs907487597	p.Gly383Asp	missense variant	-	NC_000002.12:g.120972029G>A	TOPMed,gnomAD
rs907487597	p.Gly383Val	missense variant	-	NC_000002.12:g.120972029G>T	TOPMed,gnomAD
rs755928574	p.Arg385Leu	missense variant	-	NC_000002.12:g.120972035G>T	ExAC,TOPMed,gnomAD
rs137925421	p.Arg385Trp	missense variant	-	NC_000002.12:g.120972034C>T	ESP,TOPMed
rs755928574	p.Arg385Gln	missense variant	-	NC_000002.12:g.120972035G>A	ExAC,TOPMed,gnomAD
rs757467621	p.Pro386Leu	missense variant	-	NC_000002.12:g.120972038C>T	ExAC,TOPMed,gnomAD
rs757467621	p.Pro386Arg	missense variant	-	NC_000002.12:g.120972038C>G	ExAC,TOPMed,gnomAD
rs188531549	p.Pro386Thr	missense variant	-	NC_000002.12:g.120972037C>A	1000Genomes,ExAC,gnomAD
rs188531549	p.Pro386Ser	missense variant	-	NC_000002.12:g.120972037C>T	1000Genomes,ExAC,gnomAD
rs745905276	p.Ala387Thr	missense variant	-	NC_000002.12:g.120972040G>A	ExAC,TOPMed,gnomAD
rs140041523	p.Ala391Thr	missense variant	-	NC_000002.12:g.120972052G>A	ESP,ExAC,TOPMed,gnomAD
rs1452917426	p.Ala391Val	missense variant	-	NC_000002.12:g.120972053C>T	gnomAD
rs747373831	p.Leu392Val	missense variant	-	NC_000002.12:g.120972055C>G	ExAC,gnomAD
rs571690193	p.Thr393Met	missense variant	-	NC_000002.12:g.120972059C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs889635986	p.Thr393Ala	missense variant	-	NC_000002.12:g.120972058A>G	TOPMed,gnomAD
rs201823427	p.Gly395Asp	missense variant	-	NC_000002.12:g.120974925G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs779618442	p.Val397Met	missense variant	-	NC_000002.12:g.120974930G>A	ExAC,gnomAD
rs779618442	p.Val397Leu	missense variant	-	NC_000002.12:g.120974930G>T	ExAC,gnomAD
rs746470846	p.Val397Gly	missense variant	-	NC_000002.12:g.120974931T>G	ExAC,gnomAD
rs768456013	p.His400Asp	missense variant	-	NC_000002.12:g.120974939C>G	ExAC,gnomAD
rs761748900	p.Gly401Arg	missense variant	-	NC_000002.12:g.120974942G>C	ExAC,TOPMed,gnomAD
rs761748900	p.Gly401Ser	missense variant	-	NC_000002.12:g.120974942G>A	ExAC,TOPMed,gnomAD
rs921806538	p.Ser402Leu	missense variant	-	NC_000002.12:g.120974946C>T	-
rs1193676979	p.Gly404Glu	missense variant	-	NC_000002.12:g.120974952G>A	TOPMed,gnomAD
rs1447300845	p.Cys405Tyr	missense variant	-	NC_000002.12:g.120974955G>A	gnomAD
rs773093578	p.Ala406Pro	missense variant	-	NC_000002.12:g.120974957G>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu409Ile	missense variant	-	NC_000002.12:g.120974966C>A	NCI-TCGA
rs1385470181	p.Glu412Lys	missense variant	-	NC_000002.12:g.120974975G>A	gnomAD
rs774219521	p.Glu412Gly	missense variant	-	NC_000002.12:g.120974976A>G	TOPMed
rs1007884555	p.Gln413Pro	missense variant	-	NC_000002.12:g.120974979A>C	TOPMed
rs762955703	p.Leu414Val	missense variant	-	NC_000002.12:g.120974981C>G	ExAC,gnomAD
rs766171973	p.Asp416His	missense variant	-	NC_000002.12:g.120974987G>C	ExAC,TOPMed,gnomAD
rs766171973	p.Asp416Asn	missense variant	-	NC_000002.12:g.120974987G>A	ExAC,TOPMed,gnomAD
rs751658121	p.Lys418Arg	missense variant	-	NC_000002.12:g.120974994A>G	ExAC,gnomAD
rs767762452	p.Glu419Asp	missense variant	-	NC_000002.12:g.120974998A>C	ExAC,TOPMed,gnomAD
rs752889300	p.Asp420His	missense variant	-	NC_000002.12:g.120974999G>C	ExAC,gnomAD
COSM3565899	p.Asp420Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120974999G>T	NCI-TCGA Cosmic
rs145528480	p.Asp422Gly	missense variant	-	NC_000002.12:g.120975006A>G	ESP,TOPMed
rs576376100	p.Arg423Lys	missense variant	-	NC_000002.12:g.120975009G>A	gnomAD
NCI-TCGA novel	p.Asp424Asn	missense variant	-	NC_000002.12:g.120975011G>A	NCI-TCGA
rs1463286358	p.Cys426Tyr	missense variant	-	NC_000002.12:g.120975018G>A	gnomAD
rs1282875351	p.Lys427Glu	missense variant	-	NC_000002.12:g.120975020A>G	TOPMed
rs756492771	p.Glu429Asp	missense variant	-	NC_000002.12:g.120975028G>C	ExAC,TOPMed,gnomAD
rs1454910951	p.Glu429Lys	missense variant	-	NC_000002.12:g.120975026G>A	gnomAD
COSM418594	p.Glu431Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120975032G>C	NCI-TCGA Cosmic
rs142296407	p.Val432Leu	missense variant	-	NC_000002.12:g.120975035G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142296407	p.Val432Met	missense variant	-	NC_000002.12:g.120975035G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1242748019	p.Ile434Ser	missense variant	-	NC_000002.12:g.120975042T>G	gnomAD
rs1242748019	p.Ile434Thr	missense variant	-	NC_000002.12:g.120975042T>C	gnomAD
rs759585885	p.Tyr435Cys	missense variant	-	NC_000002.12:g.120975045A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Glu436Asp	missense variant	-	NC_000002.12:g.120975049G>T	NCI-TCGA
rs1262532405	p.Thr437Ala	missense variant	-	NC_000002.12:g.120975050A>G	gnomAD
rs757806597	p.Asn438Ser	missense variant	-	NC_000002.12:g.120975054A>G	ExAC,TOPMed,gnomAD
rs140424202	p.Asn438Lys	missense variant	-	NC_000002.12:g.120975055C>G	ESP,ExAC,TOPMed,gnomAD
rs757806597	p.Asn438Thr	missense variant	-	NC_000002.12:g.120975054A>C	ExAC,TOPMed,gnomAD
rs992154166	p.Trp441Arg	missense variant	-	NC_000002.12:g.120975062T>C	TOPMed
NCI-TCGA novel	p.Asp443Gly	missense variant	-	NC_000002.12:g.120975069A>G	NCI-TCGA
NCI-TCGA novel	p.Asp443Tyr	missense variant	-	NC_000002.12:g.120975068G>T	NCI-TCGA
rs1175274916	p.Asp443His	missense variant	-	NC_000002.12:g.120975068G>C	TOPMed
NCI-TCGA novel	p.Thr445Ala	missense variant	-	NC_000002.12:g.120975074A>G	NCI-TCGA
rs1463431653	p.Glu447Asp	missense variant	-	NC_000002.12:g.120975082G>T	gnomAD
rs13427953	p.Asp449Tyr	missense variant	-	NC_000002.12:g.120975086G>T	ESP,ExAC,TOPMed,gnomAD
rs13427953	p.Asp449Asn	missense variant	-	NC_000002.12:g.120975086G>A	ESP,ExAC,TOPMed,gnomAD
rs13427953	p.Asp449His	missense variant	-	NC_000002.12:g.120975086G>C	ESP,ExAC,TOPMed,gnomAD
rs747836252	p.Thr450Ala	missense variant	-	NC_000002.12:g.120975089A>G	ExAC,gnomAD
rs769266684	p.Glu452Asp	missense variant	-	NC_000002.12:g.120975097G>T	ExAC,gnomAD
rs1159158222	p.Leu454Val	missense variant	-	NC_000002.12:g.120975101C>G	TOPMed,gnomAD
rs748984559	p.His456Tyr	missense variant	-	NC_000002.12:g.120975107C>T	ExAC,gnomAD
rs1192219672	p.Glu461Lys	missense variant	-	NC_000002.12:g.120978446G>A	TOPMed,gnomAD
rs750753215	p.Ile463Val	missense variant	-	NC_000002.12:g.120978452A>G	ExAC,TOPMed,gnomAD
COSM3565901	p.His464Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120978455C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly465Glu	missense variant	-	NC_000002.12:g.120978459G>A	NCI-TCGA
rs547124108	p.Gly465Arg	missense variant	-	NC_000002.12:g.120978458G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs547124108	p.Gly465Arg	missense variant	-	NC_000002.12:g.120978458G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs755545613	p.Glu466Lys	missense variant	-	NC_000002.12:g.120978461G>A	ExAC,gnomAD
COSM3565902	p.Glu466Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.120978461G>T	NCI-TCGA Cosmic
rs777526546	p.Lys467Thr	missense variant	-	NC_000002.12:g.120978465A>C	ExAC,gnomAD
COSM70908	p.Glu469Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120978470G>C	NCI-TCGA Cosmic
rs1367454614	p.Phe470Ser	missense variant	-	NC_000002.12:g.120978474T>C	gnomAD
rs150170739	p.Arg473His	missense variant	-	NC_000002.12:g.120978483G>A	ESP,ExAC,TOPMed,gnomAD
rs150170739	p.Arg473Leu	missense variant	-	NC_000002.12:g.120978483G>T	ESP,ExAC,TOPMed,gnomAD
rs370251398	p.Arg473Cys	missense variant	-	NC_000002.12:g.120978482C>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Trp474Cys	missense variant	-	NC_000002.12:g.120978487G>T	NCI-TCGA
rs772017351	p.Ala476Pro	missense variant	-	NC_000002.12:g.120978491G>C	ExAC,gnomAD
rs772017351	p.Ala476Ser	missense variant	-	NC_000002.12:g.120978491G>T	ExAC,gnomAD
rs565330468	p.Thr478Met	missense variant	-	NC_000002.12:g.120978498C>T	1000Genomes,ExAC,gnomAD
rs762134904	p.Arg479Gln	missense variant	-	NC_000002.12:g.120978501G>A	ExAC,gnomAD
rs121917708	p.Arg479Trp	missense variant	Holoprosencephaly 9 (hpe9)	NC_000002.12:g.120978500C>T	ExAC,TOPMed,gnomAD
rs121917708	p.Arg479Gly	missense variant	Holoprosencephaly 9 (hpe9)	NC_000002.12:g.120978500C>G	ExAC,TOPMed,gnomAD
rs121917708	p.Arg479Gly	missense variant	Holoprosencephaly 9 (HPE9)	NC_000002.12:g.120978500C>G	UniProt,dbSNP
VAR_032975	p.Arg479Gly	missense variant	Holoprosencephaly 9 (HPE9)	NC_000002.12:g.120978500C>G	UniProt
rs770087395	p.Gln481Arg	missense variant	-	NC_000002.12:g.120978507A>G	ExAC,gnomAD
rs773737195	p.Lys482Thr	missense variant	-	NC_000002.12:g.120978510A>C	ExAC,TOPMed,gnomAD
rs1036107866	p.Pro483Thr	missense variant	-	NC_000002.12:g.120978512C>A	TOPMed
rs767030770	p.Ala486Val	missense variant	-	NC_000002.12:g.120978522C>T	ExAC,TOPMed,gnomAD
rs760286217	p.Leu490Val	missense variant	-	NC_000002.12:g.120978533C>G	ExAC,gnomAD
rs1186982779	p.Val491Leu	missense variant	-	NC_000002.12:g.120978536G>C	gnomAD
NCI-TCGA novel	p.His493Arg	missense variant	-	NC_000002.12:g.120978543A>G	NCI-TCGA
rs753321852	p.Met494Val	missense variant	-	NC_000002.12:g.120978545A>G	ExAC,gnomAD
COSM3694849	p.Arg495Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120978548C>T	NCI-TCGA Cosmic
rs1413032761	p.Arg496Gln	missense variant	-	NC_000002.12:g.120978552G>A	TOPMed
rs894445064	p.Thr498Met	missense variant	-	NC_000002.12:g.120978558C>T	TOPMed
rs750260084	p.Glu500Lys	missense variant	-	NC_000002.12:g.120978563G>A	ExAC,TOPMed,gnomAD
rs1431354607	p.Lys501Arg	missense variant	-	NC_000002.12:g.120978567A>G	TOPMed
rs780098157	p.His503Arg	missense variant	-	NC_000002.12:g.120978573A>G	ExAC,gnomAD
rs758168887	p.His503Asn	missense variant	-	NC_000002.12:g.120978572C>A	ExAC,gnomAD
rs764718032	p.Thr506Met	missense variant	-	NC_000002.12:g.120978582C>T	ExAC,gnomAD
COSM4938015	p.Phe507Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120982717T>C	NCI-TCGA Cosmic
rs781146798	p.Glu508Lys	missense variant	-	NC_000002.12:g.120982719G>A	ExAC,TOPMed,gnomAD
rs781146798	p.Glu508Gln	missense variant	-	NC_000002.12:g.120982719G>C	ExAC,TOPMed,gnomAD
rs756237921	p.Gly509Arg	missense variant	-	NC_000002.12:g.120982722G>C	ExAC,gnomAD
COSM3836702	p.Cys510Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120982726G>A	NCI-TCGA Cosmic
rs372925840	p.Ser511Leu	missense variant	-	NC_000002.12:g.120982729C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372925840	p.Ser511Trp	missense variant	-	NC_000002.12:g.120982729C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys512Asn	missense variant	-	NC_000002.12:g.120982733G>T	NCI-TCGA
rs774591307	p.Ala513Ser	missense variant	-	NC_000002.12:g.120982734G>T	ExAC,gnomAD
COSM3565904	p.Ser515Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120982741C>T	NCI-TCGA Cosmic
rs746195258	p.Arg516Ser	missense variant	-	NC_000002.12:g.120982743C>A	ExAC,TOPMed
VAR_075214	p.Arg516Pro	Missense	Culler-Jones syndrome (CJS) [MIM:615849]	-	UniProt
rs775943788	p.Lys521Gln	missense variant	-	NC_000002.12:g.120982758A>C	ExAC,gnomAD
rs1335900744	p.Arg525Gln	missense variant	-	NC_000002.12:g.120982771G>A	TOPMed
NCI-TCGA novel	p.Arg525Trp	missense variant	-	NC_000002.12:g.120982770C>T	NCI-TCGA
NCI-TCGA novel	p.Thr528Ile	missense variant	-	NC_000002.12:g.120982780C>T	NCI-TCGA
rs772643710	p.Gly529Arg	missense variant	-	NC_000002.12:g.120982782G>C	ExAC,TOPMed,gnomAD
rs772643710	p.Gly529Arg	missense variant	-	NC_000002.12:g.120982782G>A	ExAC,TOPMed,gnomAD
COSM1564836	p.Lys531Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120982789A>C	NCI-TCGA Cosmic
COSM1005995	p.Pro532Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120982791C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu536Lys	missense variant	-	NC_000002.12:g.120982803G>A	NCI-TCGA
NCI-TCGA novel	p.Glu538Asp	missense variant	-	NC_000002.12:g.120982811G>T	NCI-TCGA
rs896259039	p.Glu538Lys	missense variant	-	NC_000002.12:g.120982809G>A	gnomAD
COSM4841070	p.Lys542Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120982822A>C	NCI-TCGA Cosmic
rs267598855	p.Ala543Thr	missense variant	-	NC_000002.12:g.120982824G>A	ExAC,gnomAD
rs201279367	p.Ala543Gly	missense variant	-	NC_000002.12:g.120982825C>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala547Val	missense variant	-	NC_000002.12:g.120982837C>T	NCI-TCGA
rs1436259584	p.Ala547Thr	missense variant	-	NC_000002.12:g.120982836G>A	TOPMed,gnomAD
rs1418648944	p.Ser548Leu	missense variant	-	NC_000002.12:g.120982840C>T	gnomAD
NCI-TCGA novel	p.Asp549Asn	missense variant	-	NC_000002.12:g.120982842G>A	NCI-TCGA
rs564753456	p.Arg550Cys	missense variant	-	NC_000002.12:g.120982845C>T	1000Genomes,ExAC,gnomAD
rs1229340491	p.Arg550His	missense variant	-	NC_000002.12:g.120982846G>A	gnomAD
rs1340215600	p.Ala551Ser	missense variant	-	NC_000002.12:g.120982848G>T	gnomAD
NCI-TCGA novel	p.His553Gln	missense variant	-	NC_000002.12:g.120982856C>G	NCI-TCGA
NCI-TCGA novel	p.His553Asp	missense variant	-	NC_000002.12:g.120982854C>G	NCI-TCGA
COSM3797904	p.Arg556Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120982863C>G	NCI-TCGA Cosmic
COSM3565906	p.Arg556Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120982863C>T	NCI-TCGA Cosmic
rs1346980944	p.His558Gln	missense variant	-	NC_000002.12:g.120982871C>A	gnomAD
rs772471844	p.Glu561Lys	missense variant	-	NC_000002.12:g.120982878G>A	ExAC,TOPMed,gnomAD
rs772471844	p.Glu561Gln	missense variant	-	NC_000002.12:g.120982878G>C	ExAC,TOPMed,gnomAD
rs771789679	p.Pro563Leu	missense variant	-	NC_000002.12:g.120984475C>T	ExAC,gnomAD
rs775446679	p.Tyr564Cys	missense variant	-	NC_000002.12:g.120984478A>G	ExAC,gnomAD
rs1015526827	p.Tyr564Asp	missense variant	-	NC_000002.12:g.120984477T>G	TOPMed
rs1185122714	p.Ile565Leu	missense variant	-	NC_000002.12:g.120984480A>C	TOPMed
rs182118157	p.Lys567Arg	missense variant	-	NC_000002.12:g.120984487A>G	1000Genomes,ExAC,gnomAD
rs761866843	p.Ile568Asn	missense variant	-	NC_000002.12:g.120984490T>A	ExAC,gnomAD
rs765365609	p.Gly570Ala	missense variant	-	NC_000002.12:g.120984496G>C	ExAC,gnomAD
rs758642577	p.Thr572Ile	missense variant	-	NC_000002.12:g.120984502C>T	ExAC,TOPMed,gnomAD
COSM1005996	p.Tyr575Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120984511A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro578Leu	missense variant	-	NC_000002.12:g.120984520C>T	NCI-TCGA
rs1158908764	p.Arg582Trp	missense variant	-	NC_000002.12:g.120984531C>T	gnomAD
COSM716019	p.His584Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120984537C>A	NCI-TCGA Cosmic
rs202040905	p.Thr587Met	missense variant	-	NC_000002.12:g.120984547C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs765300859	p.Gly590Ser	missense variant	-	NC_000002.12:g.120984555G>A	ExAC,TOPMed,gnomAD
rs372990380	p.Gly590Asp	missense variant	-	NC_000002.12:g.120984556G>A	ESP,ExAC,TOPMed,gnomAD
COSM475853	p.Gly590Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120984555G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro591Ser	missense variant	-	NC_000002.12:g.120984558C>T	NCI-TCGA
rs533664830	p.Asp592Asn	missense variant	-	NC_000002.12:g.120984561G>A	1000Genomes,ExAC,gnomAD
rs775250023	p.His594Tyr	missense variant	-	NC_000002.12:g.120984567C>T	ExAC,gnomAD
rs768557650	p.Val595Ile	missense variant	-	NC_000002.12:g.120984570G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys597ArgPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.120984574C>-	NCI-TCGA
rs762992052	p.Arg600His	missense variant	-	NC_000002.12:g.120984586G>A	ExAC,TOPMed,gnomAD
rs113407742	p.Arg600Cys	missense variant	-	NC_000002.12:g.120984585C>T	ESP,ExAC,TOPMed,gnomAD
rs762992052	p.Arg600Leu	missense variant	-	NC_000002.12:g.120984586G>T	ExAC,TOPMed,gnomAD
rs61732851	p.Asn601Ser	missense variant	-	NC_000002.12:g.120984589A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766641925	p.Asn601Asp	missense variant	-	NC_000002.12:g.120984588A>G	ExAC,gnomAD
rs755399491	p.Asp602Gly	missense variant	-	NC_000002.12:g.120984592A>G	ExAC,gnomAD
rs752945007	p.Val603Met	missense variant	-	NC_000002.12:g.120984594G>A	ExAC,gnomAD
rs1413894701	p.Val603Gly	missense variant	-	NC_000002.12:g.120984595T>G	TOPMed
rs756664261	p.His604Pro	missense variant	-	NC_000002.12:g.120984598A>C	ExAC,TOPMed,gnomAD
rs745409561	p.Arg606Pro	missense variant	-	NC_000002.12:g.120984604G>C	ExAC,TOPMed,gnomAD
rs745409561	p.Arg606His	missense variant	-	NC_000002.12:g.120984604G>A	ExAC,TOPMed,gnomAD
rs778101215	p.Arg606Cys	missense variant	-	NC_000002.12:g.120984603C>T	ExAC,gnomAD
rs1242087899	p.Thr607Pro	missense variant	-	NC_000002.12:g.120984606A>C	TOPMed
rs779910601	p.Pro608Ala	missense variant	-	NC_000002.12:g.120984609C>G	ExAC,gnomAD
rs779910601	p.Pro608Thr	missense variant	-	NC_000002.12:g.120984609C>A	ExAC,gnomAD
rs149800897	p.Pro608Gln	missense variant	-	NC_000002.12:g.120984610C>A	ESP,ExAC,TOPMed,gnomAD
rs149800897	p.Pro608Leu	missense variant	-	NC_000002.12:g.120984610C>T	ESP,ExAC,TOPMed,gnomAD
rs1232903310	p.Leu610Phe	missense variant	-	NC_000002.12:g.120984615C>T	TOPMed
rs769812935	p.Lys611Arg	missense variant	-	NC_000002.12:g.120984619A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu612Lys	missense variant	-	NC_000002.12:g.120984621G>A	NCI-TCGA
rs1276324238	p.Glu612Asp	missense variant	-	NC_000002.12:g.120984623G>C	gnomAD
rs537396771	p.Asn613Ser	missense variant	-	NC_000002.12:g.120984625A>G	1000Genomes,ExAC,gnomAD
rs1203779849	p.Gly614Arg	missense variant	-	NC_000002.12:g.120984627G>A	TOPMed,gnomAD
rs1314964125	p.Asp615Asn	missense variant	-	NC_000002.12:g.120984630G>A	TOPMed
rs1250165393	p.Ser616Ile	missense variant	-	NC_000002.12:g.120984634G>T	TOPMed,gnomAD
rs763082072	p.Ala618Val	missense variant	-	NC_000002.12:g.120984640C>T	ExAC,gnomAD
rs377568773	p.Gly619Cys	missense variant	-	NC_000002.12:g.120984642G>T	ESP,ExAC,TOPMed,gnomAD
rs377568773	p.Gly619Ser	missense variant	-	NC_000002.12:g.120984642G>A	ESP,ExAC,TOPMed,gnomAD
rs377568773	p.Gly619Arg	missense variant	-	NC_000002.12:g.120984642G>C	ESP,ExAC,TOPMed,gnomAD
rs1041659064	p.Gly619Asp	missense variant	-	NC_000002.12:g.120984643G>A	TOPMed,gnomAD
rs142775128	p.Thr620Met	missense variant	-	NC_000002.12:g.120984646C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754383625	p.Gly624Ser	missense variant	-	NC_000002.12:g.120984657G>A	ExAC,TOPMed,gnomAD
rs754383625	p.Gly624Arg	missense variant	-	NC_000002.12:g.120984657G>C	ExAC,TOPMed,gnomAD
rs1459325913	p.Pro625Arg	missense variant	-	NC_000002.12:g.120984661C>G	gnomAD
NCI-TCGA novel	p.Pro625Leu	missense variant	-	NC_000002.12:g.120984661C>T	NCI-TCGA
NCI-TCGA novel	p.Ser627Asn	missense variant	-	NC_000002.12:g.120984667G>A	NCI-TCGA
rs1419408866	p.Thr628Pro	missense variant	-	NC_000002.12:g.120984669A>C	TOPMed
rs387907277	p.Glu629Lys	missense variant	Holoprosencephaly 9 (hpe9)	NC_000002.12:g.120984672G>A	ExAC,TOPMed,gnomAD
rs535733917	p.Glu629Asp	missense variant	-	NC_000002.12:g.120984674G>C	1000Genomes
rs1365428947	p.Ser631Asn	missense variant	-	NC_000002.12:g.120984679G>A	gnomAD
rs1292764721	p.Ser632Arg	missense variant	-	NC_000002.12:g.120984683C>G	TOPMed,gnomAD
rs1251531492	p.Thr633Ile	missense variant	-	NC_000002.12:g.120984685C>T	TOPMed
NCI-TCGA novel	p.Ser634Ile	missense variant	-	NC_000002.12:g.120984688G>T	NCI-TCGA
NCI-TCGA novel	p.Gln635Leu	missense variant	-	NC_000002.12:g.120984691A>T	NCI-TCGA
rs1213243722	p.Ala636Pro	missense variant	-	NC_000002.12:g.120984693G>C	TOPMed
rs181235976	p.Val637Met	missense variant	-	NC_000002.12:g.120984696G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs748026927	p.Glu638Lys	missense variant	-	NC_000002.12:g.120984699G>A	ExAC,gnomAD
rs773204708	p.Val643Ile	missense variant	-	NC_000002.12:g.120984714G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg644Thr	missense variant	-	NC_000002.12:g.120984718G>C	NCI-TCGA
rs375115603	p.Glu649Lys	missense variant	-	NC_000002.12:g.120984732G>A	ESP,ExAC,TOPMed,gnomAD
rs199958307	p.Gly652Arg	missense variant	-	NC_000002.12:g.120984741G>A	1000Genomes,ESP,ExAC,gnomAD
NCI-TCGA novel	p.Leu653Met	missense variant	-	NC_000002.12:g.120986278C>A	NCI-TCGA
rs1373160690	p.Leu653Pro	missense variant	-	NC_000002.12:g.120986279T>C	gnomAD
rs1431089381	p.Cys654Tyr	missense variant	-	NC_000002.12:g.120986282G>A	gnomAD
rs954972933	p.Ser656Tyr	missense variant	-	NC_000002.12:g.120986288C>A	gnomAD
rs954972933	p.Ser656Phe	missense variant	-	NC_000002.12:g.120986288C>T	gnomAD
rs1276922692	p.Gly659Val	missense variant	-	NC_000002.12:g.120986297G>T	gnomAD
rs777362312	p.Gly659Arg	missense variant	-	NC_000002.12:g.120986296G>A	ExAC,gnomAD
rs757022100	p.Ala660Thr	missense variant	-	NC_000002.12:g.120986299G>A	ExAC,TOPMed,gnomAD
rs1301524384	p.Ala660Val	missense variant	-	NC_000002.12:g.120986300C>T	gnomAD
rs757022100	p.Ala660Ser	missense variant	-	NC_000002.12:g.120986299G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser662Thr	missense variant	-	NC_000002.12:g.120986305T>A	NCI-TCGA
rs747870569	p.Ser662Leu	missense variant	-	NC_000002.12:g.120986306C>T	ExAC,TOPMed,gnomAD
rs561810561	p.Ser665Gly	missense variant	-	NC_000002.12:g.120986314A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1248168877	p.Ser665Asn	missense variant	-	NC_000002.12:g.120986315G>A	gnomAD
rs747072723	p.Ser666Thr	missense variant	-	NC_000002.12:g.120986318G>C	ExAC,gnomAD
rs776972968	p.Glu667Lys	missense variant	-	NC_000002.12:g.120986320G>A	ExAC,gnomAD
rs183782085	p.Pro668Leu	missense variant	-	NC_000002.12:g.120986324C>T	1000Genomes,ExAC,gnomAD
rs565657070	p.Gly672Ser	missense variant	-	NC_000002.12:g.120986335G>A	1000Genomes,ExAC,gnomAD
rs773562626	p.Ala674Val	missense variant	-	NC_000002.12:g.120986342C>T	ExAC,gnomAD
rs1474671936	p.Ala674Thr	missense variant	-	NC_000002.12:g.120986341G>A	gnomAD
rs773562626	p.Ala674Asp	missense variant	-	NC_000002.12:g.120986342C>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro675Leu	missense variant	-	NC_000002.12:g.120986345C>T	NCI-TCGA
NCI-TCGA novel	p.Pro675Ser	missense variant	-	NC_000002.12:g.120986344C>T	NCI-TCGA
rs1325951662	p.Asp678Val	missense variant	-	NC_000002.12:g.120986354A>T	gnomAD
rs1350901508	p.Ser679Asn	missense variant	-	NC_000002.12:g.120986357G>A	gnomAD
rs551617843	p.Val681Leu	missense variant	-	NC_000002.12:g.120986362G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs551617843	p.Val681Met	missense variant	-	NC_000002.12:g.120986362G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1409163041	p.Met683Leu	missense variant	-	NC_000002.12:g.120986368A>T	TOPMed
rs1409163041	p.Met683Val	missense variant	-	NC_000002.12:g.120986368A>G	TOPMed
rs760198344	p.Pro684Ser	missense variant	-	NC_000002.12:g.120986371C>T	ExAC
rs373968370	p.Pro684Leu	missense variant	-	NC_000002.12:g.120986372C>T	ESP,ExAC,TOPMed,gnomAD
rs757109745	p.Gly685Arg	missense variant	-	NC_000002.12:g.120986374G>A	ExAC,TOPMed,gnomAD
rs772786172	p.Gly685Glu	missense variant	-	NC_000002.12:g.120986375G>A	ExAC,gnomAD
rs750174908	p.Thr686Ser	missense variant	-	NC_000002.12:g.120986377A>T	ExAC,TOPMed,gnomAD
rs758298657	p.Thr686Met	missense variant	-	NC_000002.12:g.120986378C>T	ExAC,TOPMed,gnomAD
rs979174780	p.Gly687Arg	missense variant	-	NC_000002.12:g.120986380G>A	TOPMed
rs368605892	p.Gly689Glu	missense variant	-	NC_000002.12:g.120986387G>A	ESP,TOPMed
rs748390167	p.Gly689Arg	missense variant	-	NC_000002.12:g.120986386G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser690AlaPheSerTerUnk	frameshift	-	NC_000002.12:g.120986383C>-	NCI-TCGA
rs770087477	p.Leu691Pro	missense variant	-	NC_000002.12:g.120986393T>C	ExAC,TOPMed,gnomAD
rs1205827042	p.Gly692Arg	missense variant	-	NC_000002.12:g.120986395G>C	TOPMed
rs150858529	p.Thr695Lys	missense variant	-	NC_000002.12:g.120986405C>A	ESP,ExAC,TOPMed,gnomAD
rs150858529	p.Thr695Met	missense variant	-	NC_000002.12:g.120986405C>T	ESP,ExAC,TOPMed,gnomAD
rs776052132	p.Asp698Val	missense variant	-	NC_000002.12:g.120986414A>T	ExAC,gnomAD
rs763588841	p.Asp698Asn	missense variant	-	NC_000002.12:g.120986413G>A	ExAC,gnomAD
rs1445451224	p.Thr700Ser	missense variant	-	NC_000002.12:g.120986419A>T	TOPMed
rs370752192	p.Pro702Ala	missense variant	-	NC_000002.12:g.120986425C>G	ESP,ExAC,TOPMed,gnomAD
rs764830136	p.Pro702Gln	missense variant	-	NC_000002.12:g.120986426C>A	ExAC,TOPMed,gnomAD
rs750226645	p.Gly703Glu	missense variant	-	NC_000002.12:g.120986429G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala704Thr	missense variant	-	NC_000002.12:g.120986431G>A	NCI-TCGA
rs751513015	p.Asp705Asn	missense variant	-	NC_000002.12:g.120986434G>A	ExAC,TOPMed,gnomAD
rs754899023	p.Thr706Ile	missense variant	-	NC_000002.12:g.120986438C>T	ExAC,TOPMed,gnomAD
COSM4084555	p.Ala708Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120986444C>T	NCI-TCGA Cosmic
rs781438228	p.Leu709Arg	missense variant	-	NC_000002.12:g.120986447T>G	ExAC,TOPMed,gnomAD
rs781438228	p.Leu709Pro	missense variant	-	NC_000002.12:g.120986447T>C	ExAC,TOPMed,gnomAD
rs996301662	p.Ala710Val	missense variant	-	NC_000002.12:g.120986450C>T	TOPMed,gnomAD
rs996301662	p.Ala710Gly	missense variant	-	NC_000002.12:g.120986450C>G	TOPMed,gnomAD
COSM1005998	p.Ala711Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120986453C>T	NCI-TCGA Cosmic
rs553780090	p.Ala714Thr	missense variant	-	NC_000002.12:g.120986461G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs749660142	p.Gly715Asp	missense variant	-	NC_000002.12:g.120986465G>A	ExAC,gnomAD
rs771311031	p.Gly716Ser	missense variant	-	NC_000002.12:g.120986467G>A	ExAC,TOPMed,gnomAD
rs774785340	p.Gly716Val	missense variant	-	NC_000002.12:g.120986468G>T	ExAC,TOPMed,gnomAD
rs149091975	p.Arg720His	missense variant	-	NC_000002.12:g.120986480G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs773976966	p.Arg720Ser	missense variant	-	NC_000002.12:g.120986479C>A	ExAC,TOPMed,gnomAD
rs773976966	p.Arg720Cys	missense variant	-	NC_000002.12:g.120986479C>T	ExAC,TOPMed,gnomAD
rs993816030	p.His722Arg	missense variant	-	NC_000002.12:g.120986486A>G	TOPMed,gnomAD
rs987095648	p.Met723Ile	missense variant	-	NC_000002.12:g.120986490G>A	gnomAD
rs761281400	p.Met723Arg	missense variant	-	NC_000002.12:g.120986489T>G	ExAC,gnomAD
rs761281400	p.Met723Lys	missense variant	-	NC_000002.12:g.120986489T>A	ExAC,gnomAD
rs772907056	p.Thr724Ala	missense variant	-	NC_000002.12:g.120986491A>G	ExAC,gnomAD
NCI-TCGA novel	p.His727Gln	missense variant	-	NC_000002.12:g.120986502C>G	NCI-TCGA
rs368549881	p.Arg728Gln	missense variant	-	NC_000002.12:g.120986504G>A	ESP,ExAC,TOPMed,gnomAD
rs1397888063	p.Arg728Trp	missense variant	-	NC_000002.12:g.120986503C>T	TOPMed,gnomAD
rs151179617	p.Phe729Leu	missense variant	-	NC_000002.12:g.120986508C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs151179617	p.Phe729Leu	missense variant	-	NC_000002.12:g.120986508C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs752860949	p.Glu730Lys	missense variant	-	NC_000002.12:g.120986509G>A	ExAC,TOPMed,gnomAD
rs962236027	p.Lys733Asn	missense variant	-	NC_000002.12:g.120986520G>T	gnomAD
NCI-TCGA novel	p.Lys734ArgPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.120986520G>-	NCI-TCGA
rs756237933	p.Glu735Lys	missense variant	-	NC_000002.12:g.120986524G>A	ExAC,TOPMed,gnomAD
rs777912692	p.Lys736Arg	missense variant	-	NC_000002.12:g.120986528A>G	ExAC,gnomAD
rs754084344	p.Lys736Asn	missense variant	-	NC_000002.12:g.120986529G>C	ExAC,TOPMed,gnomAD
rs1278646106	p.Lys738Arg	missense variant	-	NC_000002.12:g.120986534A>G	TOPMed,gnomAD
rs371352201	p.Lys738Asn	missense variant	-	NC_000002.12:g.120986535G>T	ESP,ExAC,TOPMed,gnomAD
rs746181717	p.Ser739Thr	missense variant	-	NC_000002.12:g.120986536T>A	ExAC,gnomAD
rs1473144103	p.Asp742Asn	missense variant	-	NC_000002.12:g.120986545G>A	gnomAD
rs1181480957	p.Ser743Phe	missense variant	-	NC_000002.12:g.120986549C>T	TOPMed,gnomAD
rs780517633	p.Ser745Leu	missense variant	-	NC_000002.12:g.120986555C>T	ExAC,TOPMed,gnomAD
rs1467722206	p.Trp746Arg	missense variant	-	NC_000002.12:g.120986557T>A	gnomAD
rs1173236992	p.Ala747Val	missense variant	-	NC_000002.12:g.120986561C>T	gnomAD
rs146944207	p.Gly748Arg	missense variant	-	NC_000002.12:g.120986563G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly748Trp	missense variant	-	NC_000002.12:g.120986563G>T	NCI-TCGA
rs772532094	p.Pro749Leu	missense variant	-	NC_000002.12:g.120986567C>T	ExAC,TOPMed,gnomAD
rs772532094	p.Pro749Gln	missense variant	-	NC_000002.12:g.120986567C>A	ExAC,TOPMed,gnomAD
rs767609239	p.His752Gln	missense variant	-	NC_000002.12:g.120986577C>A	ExAC,gnomAD
rs759370412	p.His752Tyr	missense variant	-	NC_000002.12:g.120986575C>T	ExAC,TOPMed,gnomAD
rs1296344698	p.Thr753Met	missense variant	-	NC_000002.12:g.120986579C>T	TOPMed
rs138932004	p.Arg754Trp	missense variant	-	NC_000002.12:g.120986581C>T	ESP,ExAC,TOPMed,gnomAD
rs144782119	p.Arg754Gln	missense variant	-	NC_000002.12:g.120986582G>A	ESP,ExAC,TOPMed,gnomAD
rs144782119	p.Arg754Pro	missense variant	-	NC_000002.12:g.120986582G>C	ESP,ExAC,TOPMed,gnomAD
rs904385464	p.Asn755Lys	missense variant	-	NC_000002.12:g.120986586C>G	TOPMed
rs375221639	p.Asn755Thr	missense variant	-	NC_000002.12:g.120986585A>C	ESP
rs758750566	p.Leu758Val	missense variant	-	NC_000002.12:g.120986593C>G	ExAC
rs1195601372	p.Pro759His	missense variant	-	NC_000002.12:g.120986597C>A	gnomAD
rs1435272545	p.Leu761Val	missense variant	-	NC_000002.12:g.120986602C>G	TOPMed,gnomAD
rs1435272545	p.Leu761Phe	missense variant	-	NC_000002.12:g.120986602C>T	TOPMed,gnomAD
rs369835105	p.Pro762Leu	missense variant	-	NC_000002.12:g.120986606C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly763Arg	missense variant	-	NC_000002.12:g.120986608G>A	NCI-TCGA
rs756712721	p.Gly765Ala	missense variant	-	NC_000002.12:g.120988208G>C	ExAC,gnomAD
rs374074240	p.Gly765Ser	missense variant	-	NC_000002.12:g.120986614G>A	ESP
rs778778635	p.Ser766Tyr	missense variant	-	NC_000002.12:g.120988211C>A	ExAC,gnomAD
COSM3565910	p.Ser766Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120988211C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile767Met	missense variant	-	NC_000002.12:g.120988215C>G	NCI-TCGA
rs973224338	p.Leu768Pro	missense variant	-	NC_000002.12:g.120988217T>C	TOPMed,gnomAD
rs1181629972	p.Phe771Cys	missense variant	-	NC_000002.12:g.120988226T>G	TOPMed,gnomAD
rs1188395609	p.Phe771Val	missense variant	-	NC_000002.12:g.120988225T>G	gnomAD
rs1416979318	p.Phe771Leu	missense variant	-	NC_000002.12:g.120988227C>A	TOPMed,gnomAD
rs746742181	p.Ser772Ile	missense variant	-	NC_000002.12:g.120988229G>T	ExAC,TOPMed,gnomAD
rs746742181	p.Ser772Thr	missense variant	-	NC_000002.12:g.120988229G>C	ExAC,TOPMed,gnomAD
rs886054812	p.Gly773Asp	missense variant	-	NC_000002.12:g.120988232G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gly773Ser	missense variant	-	NC_000002.12:g.120988231G>A	NCI-TCGA
rs553560055	p.Ser774Arg	missense variant	-	NC_000002.12:g.120988236T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs369823940	p.Gly775Trp	missense variant	-	NC_000002.12:g.120988237G>T	ESP,TOPMed,gnomAD
rs369823940	p.Gly775Arg	missense variant	-	NC_000002.12:g.120988237G>A	ESP,TOPMed,gnomAD
rs369823940	p.Gly775Arg	missense variant	-	NC_000002.12:g.120988237G>C	ESP,TOPMed,gnomAD
rs776418663	p.Gly776Ser	missense variant	-	NC_000002.12:g.120988240G>A	ExAC,TOPMed,gnomAD
rs762017804	p.Gly776Ala	missense variant	-	NC_000002.12:g.120988241G>C	ExAC,TOPMed,gnomAD
rs762017804	p.Gly776Asp	missense variant	-	NC_000002.12:g.120988241G>A	ExAC,TOPMed,gnomAD
rs1293213627	p.Gly777Ser	missense variant	-	NC_000002.12:g.120988243G>A	gnomAD
rs1201848239	p.Gly777Ala	missense variant	-	NC_000002.12:g.120988244G>C	TOPMed
COSM3565912	p.Gly778Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120988246G>A	NCI-TCGA Cosmic
rs773216992	p.Pro779Ser	missense variant	-	NC_000002.12:g.120988249C>T	ExAC,TOPMed,gnomAD
rs374016746	p.Ala780Val	missense variant	-	NC_000002.12:g.120988253C>T	ESP,ExAC,TOPMed,gnomAD
rs766544216	p.Gly781Glu	missense variant	-	NC_000002.12:g.120988256G>A	ExAC,TOPMed,gnomAD
rs376132749	p.Pro784Leu	missense variant	-	NC_000002.12:g.120988265C>T	ESP,ExAC,TOPMed,gnomAD
rs376132749	p.Pro784Arg	missense variant	-	NC_000002.12:g.120988265C>G	ESP,ExAC,TOPMed,gnomAD
rs768131638	p.Asn785Ser	missense variant	-	NC_000002.12:g.120988268A>G	ExAC,TOPMed,gnomAD
rs768131638	p.Asn785Ile	missense variant	-	NC_000002.12:g.120988268A>T	ExAC,TOPMed,gnomAD
rs1408296694	p.Asn785His	missense variant	-	NC_000002.12:g.120988267A>C	gnomAD
rs1047100315	p.Pro786Thr	missense variant	-	NC_000002.12:g.120988270C>A	TOPMed
rs745323708	p.Arg787Trp	missense variant	-	NC_000002.12:g.120988273C>T	ExAC,TOPMed,gnomAD
rs1328044438	p.Leu788Arg	missense variant	-	NC_000002.12:g.120988277T>G	gnomAD
rs1374131711	p.Ser789Leu	missense variant	-	NC_000002.12:g.120988280C>T	gnomAD
rs1334283315	p.Ser792Ala	missense variant	-	NC_000002.12:g.120988288T>G	TOPMed
rs965947206	p.Ala793Val	missense variant	-	NC_000002.12:g.120988292C>T	TOPMed
rs1372874550	p.Ala793Ser	missense variant	-	NC_000002.12:g.120988291G>T	gnomAD
rs746880019	p.Ser794Ile	missense variant	-	NC_000002.12:g.120988295G>T	ExAC,gnomAD
rs1406444413	p.Glu795Lys	missense variant	-	NC_000002.12:g.120988297G>A	TOPMed
NCI-TCGA novel	p.Val796Met	missense variant	-	NC_000002.12:g.120988300G>A	NCI-TCGA
rs926862203	p.Val796Leu	missense variant	-	NC_000002.12:g.120988300G>T	TOPMed
rs1348748256	p.Thr797Ser	missense variant	-	NC_000002.12:g.120988303A>T	gnomAD
NCI-TCGA novel	p.Met798Thr	missense variant	-	NC_000002.12:g.120988307T>C	NCI-TCGA
rs1210211719	p.Met798Ile	missense variant	-	NC_000002.12:g.120988308G>A	gnomAD
NCI-TCGA novel	p.Ser800Ile	missense variant	-	NC_000002.12:g.120988313G>T	NCI-TCGA
rs780972974	p.Leu802Val	missense variant	-	NC_000002.12:g.120988318C>G	ExAC,TOPMed,gnomAD
rs1206377430	p.Gln803Glu	missense variant	-	NC_000002.12:g.120988321C>G	gnomAD
rs1233177594	p.Glu804Lys	missense variant	-	NC_000002.12:g.120988324G>A	gnomAD
rs748046557	p.Arg805Cys	missense variant	-	NC_000002.12:g.120988327C>T	ExAC,gnomAD
rs769667439	p.Arg806Cys	missense variant	-	NC_000002.12:g.120988330C>T	ExAC,TOPMed,gnomAD
rs769667439	p.Arg806Ser	missense variant	-	NC_000002.12:g.120988330C>A	ExAC,TOPMed,gnomAD
rs1396488391	p.Arg806His	missense variant	-	NC_000002.12:g.120988331G>A	gnomAD
NCI-TCGA novel	p.Ser808Gly	missense variant	-	NC_000002.12:g.120988336A>G	NCI-TCGA
rs773308985	p.Thr812Met	missense variant	-	NC_000002.12:g.120988349C>T	ExAC,gnomAD
rs1053956460	p.Val813Ala	missense variant	-	NC_000002.12:g.120988352T>C	TOPMed
rs1026630572	p.Ser815Leu	missense variant	-	NC_000002.12:g.120988358C>T	gnomAD
rs767780220	p.Ala816Ser	missense variant	-	NC_000002.12:g.120988360G>T	ExAC,TOPMed,gnomAD
rs1232291280	p.Tyr817Phe	missense variant	-	NC_000002.12:g.120988364A>T	gnomAD
rs538744794	p.Thr818Pro	missense variant	-	NC_000002.12:g.120988366A>C	1000Genomes
rs985023327	p.Val819Met	missense variant	-	NC_000002.12:g.120988369G>A	gnomAD
rs1346097498	p.Arg821Cys	missense variant	-	NC_000002.12:g.120988375C>T	gnomAD
rs926369054	p.Arg821His	missense variant	-	NC_000002.12:g.120988376G>A	TOPMed,gnomAD
rs1301269573	p.Arg822Cys	missense variant	-	NC_000002.12:g.120988378C>T	gnomAD
rs764657013	p.Ser823Phe	missense variant	-	NC_000002.12:g.120988382C>T	ExAC,TOPMed,gnomAD
rs749994693	p.Ser824Phe	missense variant	-	NC_000002.12:g.120988385C>T	ExAC,gnomAD
rs1202144630	p.Gly825Ser	missense variant	-	NC_000002.12:g.120988387G>A	gnomAD
rs1202144630	p.Gly825Arg	missense variant	-	NC_000002.12:g.120988387G>C	gnomAD
rs779823281	p.Ser827Pro	missense variant	-	NC_000002.12:g.120988393T>C	ExAC,gnomAD
rs1468595986	p.Ser827Phe	missense variant	-	NC_000002.12:g.120988394C>T	gnomAD
rs1192465801	p.Pro828Leu	missense variant	-	NC_000002.12:g.120988397C>T	TOPMed,gnomAD
rs1192465801	p.Pro828His	missense variant	-	NC_000002.12:g.120988397C>A	TOPMed,gnomAD
rs556743028	p.Phe830Leu	missense variant	-	NC_000002.12:g.120988402T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs923124952	p.Ser831Pro	missense variant	-	NC_000002.12:g.120988405T>C	-
rs747895979	p.Ser831Tyr	missense variant	-	NC_000002.12:g.120988406C>A	ExAC,TOPMed,gnomAD
rs747895979	p.Ser831Phe	missense variant	-	NC_000002.12:g.120988406C>T	ExAC,TOPMed,gnomAD
rs1395509691	p.Ser832Cys	missense variant	-	NC_000002.12:g.120988408A>T	gnomAD
rs1440364367	p.Arg834Cys	missense variant	-	NC_000002.12:g.120988414C>T	gnomAD
rs890137078	p.Ser835Cys	missense variant	-	NC_000002.12:g.120988418C>G	TOPMed
rs769760611	p.Ser836Gly	missense variant	-	NC_000002.12:g.120988420A>G	ExAC,gnomAD
rs193090538	p.Glu837Lys	missense variant	-	NC_000002.12:g.120988423G>A	1000Genomes,ESP,ExAC,gnomAD
rs749423913	p.Ala838Ser	missense variant	-	NC_000002.12:g.120988426G>T	ExAC,gnomAD
rs1338626267	p.Ser839Leu	missense variant	-	NC_000002.12:g.120988430C>T	gnomAD
rs774425670	p.Pro840Ser	missense variant	-	NC_000002.12:g.120988432C>T	ExAC,gnomAD
rs759692739	p.Leu841Met	missense variant	-	NC_000002.12:g.120988435C>A	ExAC,TOPMed,gnomAD
rs772290292	p.Gly842Asp	missense variant	-	NC_000002.12:g.120988439G>A	ExAC,gnomAD
rs1270859236	p.Ala843Gly	missense variant	-	NC_000002.12:g.120988442C>G	gnomAD
rs1193224449	p.Gly844Ser	missense variant	-	NC_000002.12:g.120988444G>A	gnomAD
rs1183604091	p.Gly844Asp	missense variant	-	NC_000002.12:g.120988445G>A	TOPMed
rs1242068535	p.Arg845Cys	missense variant	-	NC_000002.12:g.120988447C>T	gnomAD
rs1474680366	p.Arg845Leu	missense variant	-	NC_000002.12:g.120988448G>T	gnomAD
rs761090665	p.Pro846Arg	missense variant	-	NC_000002.12:g.120988451C>G	ExAC,TOPMed,gnomAD
rs761090665	p.Pro846Gln	missense variant	-	NC_000002.12:g.120988451C>A	ExAC,TOPMed,gnomAD
rs761090665	p.Pro846Leu	missense variant	-	NC_000002.12:g.120988451C>T	ExAC,TOPMed,gnomAD
rs1358202635	p.His847Gln	missense variant	-	NC_000002.12:g.120988455C>G	TOPMed
NCI-TCGA novel	p.Ala849Thr	missense variant	-	NC_000002.12:g.120988459G>A	NCI-TCGA
rs1461238960	p.Ala849Pro	missense variant	-	NC_000002.12:g.120988459G>C	gnomAD
rs762343399	p.Ser851Phe	missense variant	-	NC_000002.12:g.120988466C>T	ExAC,gnomAD
rs751028726	p.Ala852Thr	missense variant	-	NC_000002.12:g.120988468G>A	ExAC,TOPMed,gnomAD
rs1398142924	p.Asp853Ala	missense variant	-	NC_000002.12:g.120988472A>C	gnomAD
rs767164238	p.Ser854Tyr	missense variant	-	NC_000002.12:g.120988475C>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro857Leu	missense variant	-	NC_000002.12:g.120988484C>T	NCI-TCGA
rs1301613918	p.Pro857Arg	missense variant	-	NC_000002.12:g.120988484C>G	TOPMed
rs1270918193	p.Thr860Met	missense variant	-	NC_000002.12:g.120988493C>T	gnomAD
rs1444777353	p.Ala862Val	missense variant	-	NC_000002.12:g.120988499C>T	gnomAD
rs1042668856	p.Ala862Thr	missense variant	-	NC_000002.12:g.120988498G>A	gnomAD
rs1167240389	p.Gln871Arg	missense variant	-	NC_000002.12:g.120988526A>G	TOPMed
rs1475109864	p.Ser873Asn	missense variant	-	NC_000002.12:g.120988532G>A	gnomAD
rs749232196	p.Gly874Ser	missense variant	-	NC_000002.12:g.120988534G>A	ExAC,TOPMed,gnomAD
rs749232196	p.Gly874Cys	missense variant	-	NC_000002.12:g.120988534G>T	ExAC,TOPMed,gnomAD
rs1470595019	p.Gly874Asp	missense variant	-	NC_000002.12:g.120988535G>A	gnomAD
rs1382953991	p.Gly875Ser	missense variant	-	NC_000002.12:g.120988537G>A	gnomAD
rs1375945140	p.Gly877Arg	missense variant	-	NC_000002.12:g.120988543G>A	gnomAD
rs1239404153	p.Leu879Pro	missense variant	-	NC_000002.12:g.120988550T>C	gnomAD
rs1337169378	p.Leu879Phe	missense variant	-	NC_000002.12:g.120988549C>T	gnomAD
rs745923540	p.Asn880Lys	missense variant	-	NC_000002.12:g.120988554C>A	ExAC,TOPMed,gnomAD
rs1278578252	p.Asn880Ser	missense variant	-	NC_000002.12:g.120988553A>G	gnomAD
rs1332140763	p.Thr882Ser	missense variant	-	NC_000002.12:g.120988558A>T	gnomAD
rs1235814751	p.Pro883Ser	missense variant	-	NC_000002.12:g.120988561C>T	gnomAD
rs1488068671	p.Pro883Leu	missense variant	-	NC_000002.12:g.120988562C>T	TOPMed
rs1485605591	p.Ala884Glu	missense variant	-	NC_000002.12:g.120988565C>A	TOPMed,gnomAD
rs1485605591	p.Ala884Val	missense variant	-	NC_000002.12:g.120988565C>T	TOPMed,gnomAD
rs1209198245	p.Gln885His	missense variant	-	NC_000002.12:g.120988569G>C	gnomAD
NCI-TCGA novel	p.Gln886Ter	stop gained	-	NC_000002.12:g.120988570C>T	NCI-TCGA
rs1253185243	p.Gln886Arg	missense variant	-	NC_000002.12:g.120988571A>G	gnomAD
rs775833166	p.Arg890Trp	missense variant	-	NC_000002.12:g.120988582C>T	ExAC,TOPMed
rs1362244568	p.Ala891Val	missense variant	-	NC_000002.12:g.120988586C>T	gnomAD
rs908599831	p.Tyr893Phe	missense variant	-	NC_000002.12:g.120988592A>T	TOPMed,gnomAD
rs1174286833	p.Ala895Pro	missense variant	-	NC_000002.12:g.120988597G>C	gnomAD
rs1433952961	p.Ala896Val	missense variant	-	NC_000002.12:g.120988601C>T	gnomAD
rs777077274	p.Gly899Asp	missense variant	-	NC_000002.12:g.120988610G>A	ExAC
rs762431434	p.Pro900Leu	missense variant	-	NC_000002.12:g.120988613C>T	ExAC,gnomAD
rs1391739024	p.Pro901Ser	missense variant	-	NC_000002.12:g.120988615C>T	gnomAD
rs765733921	p.Pro901Leu	missense variant	-	NC_000002.12:g.120988616C>T	ExAC,TOPMed,gnomAD
rs765733921	p.Pro901Gln	missense variant	-	NC_000002.12:g.120988616C>A	ExAC,TOPMed,gnomAD
rs572826436	p.Thr903Ser	missense variant	-	NC_000002.12:g.120988622C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs759061834	p.Pro906Arg	missense variant	-	NC_000002.12:g.120988631C>G	ExAC,TOPMed,gnomAD
rs759061834	p.Pro906Leu	missense variant	-	NC_000002.12:g.120988631C>T	ExAC,TOPMed,gnomAD
rs759061834	p.Pro906Gln	missense variant	-	NC_000002.12:g.120988631C>A	ExAC,TOPMed,gnomAD
rs1479419735	p.Gly907Asp	missense variant	-	NC_000002.12:g.120988634G>A	TOPMed
rs1236605155	p.Glu909Lys	missense variant	-	NC_000002.12:g.120988639G>A	gnomAD
rs1237189963	p.Glu909Val	missense variant	-	NC_000002.12:g.120988640A>T	TOPMed
rs1342106193	p.Arg910Gly	missense variant	-	NC_000002.12:g.120988642C>G	TOPMed,gnomAD
rs1342106193	p.Arg910Cys	missense variant	-	NC_000002.12:g.120988642C>T	TOPMed,gnomAD
rs752338987	p.Arg910His	missense variant	-	NC_000002.12:g.120988643G>A	ExAC,gnomAD
rs1194343331	p.Met911Val	missense variant	-	NC_000002.12:g.120988645A>G	TOPMed,gnomAD
rs1194343331	p.Met911Leu	missense variant	-	NC_000002.12:g.120988645A>C	TOPMed,gnomAD
rs755701566	p.Met911Ile	missense variant	-	NC_000002.12:g.120988647G>A	ExAC,gnomAD
rs1452643743	p.Ser912Ile	missense variant	-	NC_000002.12:g.120988649G>T	gnomAD
rs886054813	p.Arg914Gln	missense variant	-	NC_000002.12:g.120988655G>A	TOPMed,gnomAD
rs763893593	p.Arg914Trp	missense variant	-	NC_000002.12:g.120988654C>T	ExAC,TOPMed,gnomAD
rs753583106	p.Thr915Ser	missense variant	-	NC_000002.12:g.120988658C>G	ExAC,gnomAD
rs1397696400	p.Leu917Met	missense variant	-	NC_000002.12:g.120988663C>A	gnomAD
rs1442572039	p.Ala918Glu	missense variant	-	NC_000002.12:g.120988667C>A	gnomAD
rs1369669579	p.Leu919Pro	missense variant	-	NC_000002.12:g.120988670T>C	gnomAD
rs1372871540	p.Leu920Pro	missense variant	-	NC_000002.12:g.120988673T>C	TOPMed
rs890177001	p.Ala922Gly	missense variant	-	NC_000002.12:g.120988679C>G	TOPMed
rs1384533626	p.Ala922Thr	missense variant	-	NC_000002.12:g.120988678G>A	TOPMed,gnomAD
rs890177001	p.Ala922Val	missense variant	-	NC_000002.12:g.120988679C>T	TOPMed
rs1359684308	p.Pro923Leu	missense variant	-	NC_000002.12:g.120988682C>T	TOPMed
rs1177884230	p.Glu924Gln	missense variant	-	NC_000002.12:g.120988684G>C	TOPMed
rs1227169920	p.Arg925His	missense variant	-	NC_000002.12:g.120988688G>A	TOPMed,gnomAD
rs1227169920	p.Arg925Leu	missense variant	-	NC_000002.12:g.120988688G>T	TOPMed,gnomAD
rs540126716	p.Pro928Leu	missense variant	-	NC_000002.12:g.120988697C>T	1000Genomes
rs778880428	p.Pro928Thr	missense variant	-	NC_000002.12:g.120988696C>A	ExAC,gnomAD
rs1214617362	p.Ala929Thr	missense variant	-	NC_000002.12:g.120988699G>A	TOPMed,gnomAD
rs1008980636	p.Gly930Ser	missense variant	-	NC_000002.12:g.120988702G>A	TOPMed
rs1272759660	p.Pro932Ser	missense variant	-	NC_000002.12:g.120988708C>T	gnomAD
rs1038692152	p.Arg933His	missense variant	-	NC_000002.12:g.120988712G>A	TOPMed,gnomAD
rs1258360366	p.Leu935Pro	missense variant	-	NC_000002.12:g.120988718T>C	TOPMed
rs900449843	p.Arg938Trp	missense variant	-	NC_000002.12:g.120988726C>T	TOPMed
rs745984071	p.Arg939His	missense variant	-	NC_000002.12:g.120988730G>A	ExAC,gnomAD
rs994748700	p.Ser941Arg	missense variant	-	NC_000002.12:g.120988737C>A	TOPMed,gnomAD
rs1027551866	p.Asp942Asn	missense variant	-	NC_000002.12:g.120988738G>A	TOPMed
rs1312020540	p.Gly943Arg	missense variant	-	NC_000002.12:g.120988741G>A	TOPMed
rs950546253	p.Pro944Ser	missense variant	-	NC_000002.12:g.120988744C>T	TOPMed
rs1004685361	p.Thr945Ser	missense variant	-	NC_000002.12:g.120988748C>G	TOPMed,gnomAD
rs1004685361	p.Thr945Ile	missense variant	-	NC_000002.12:g.120988748C>T	TOPMed,gnomAD
rs1359706804	p.Tyr946Cys	missense variant	-	NC_000002.12:g.120988751A>G	TOPMed
rs1015690843	p.Gly947Asp	missense variant	-	NC_000002.12:g.120988754G>A	TOPMed,gnomAD
rs1421082927	p.His950Tyr	missense variant	-	NC_000002.12:g.120988762C>T	TOPMed
rs1383010786	p.Ala951Thr	missense variant	-	NC_000002.12:g.120988765G>A	TOPMed
rs970835131	p.Gly952Ala	missense variant	-	NC_000002.12:g.120988769G>C	TOPMed,gnomAD
rs1290055364	p.Ala953Ser	missense variant	-	NC_000002.12:g.120988771G>T	TOPMed,gnomAD
rs1258846094	p.Ala954Val	missense variant	-	NC_000002.12:g.120988775C>T	TOPMed
rs982555104	p.Ala956Thr	missense variant	-	NC_000002.12:g.120988780G>A	TOPMed,gnomAD
rs1382223174	p.His959Tyr	missense variant	-	NC_000002.12:g.120988789C>T	TOPMed,gnomAD
rs1276841941	p.Glu960Lys	missense variant	-	NC_000002.12:g.120988792G>A	gnomAD
rs1357813577	p.Ala961Val	missense variant	-	NC_000002.12:g.120988796C>T	gnomAD
rs1391715622	p.Ala961Ser	missense variant	-	NC_000002.12:g.120988795G>T	TOPMed,gnomAD
rs1357813577	p.Ala961Asp	missense variant	-	NC_000002.12:g.120988796C>A	gnomAD
rs1183656856	p.Pro962Leu	missense variant	-	NC_000002.12:g.120988799C>T	TOPMed
rs532167984	p.Gly964Ser	missense variant	-	NC_000002.12:g.120988804G>A	1000Genomes,TOPMed,gnomAD
rs1401689804	p.Gly965Arg	missense variant	-	NC_000002.12:g.120988807G>A	TOPMed
rs758491909	p.Ala966Pro	missense variant	-	NC_000002.12:g.120988810G>C	ExAC,gnomAD
rs780215367	p.Arg968Trp	missense variant	-	NC_000002.12:g.120988816C>T	ExAC,gnomAD
rs1260890491	p.Ala969Gly	missense variant	-	NC_000002.12:g.120988820C>G	TOPMed,gnomAD
rs1412636446	p.Arg974Trp	missense variant	-	NC_000002.12:g.120988834C>T	gnomAD
rs376969137	p.Arg974Pro	missense variant	-	NC_000002.12:g.120988835G>C	ExAC,TOPMed,gnomAD
rs376969137	p.Arg974Leu	missense variant	-	NC_000002.12:g.120988835G>T	ExAC,TOPMed,gnomAD
rs1477746607	p.Arg975Leu	missense variant	-	NC_000002.12:g.120988838G>T	TOPMed
rs1160835394	p.Asp977Gly	missense variant	-	NC_000002.12:g.120988844A>G	gnomAD
rs1196293141	p.Asp977Glu	missense variant	-	NC_000002.12:g.120988845T>A	TOPMed
rs1489978345	p.Ala978Ser	missense variant	-	NC_000002.12:g.120988846G>T	TOPMed
rs959912590	p.Leu979Gln	missense variant	-	NC_000002.12:g.120988850T>A	TOPMed
rs1377757442	p.Ser980Tyr	missense variant	-	NC_000002.12:g.120988853C>A	gnomAD
rs1312594885	p.Leu981Pro	missense variant	-	NC_000002.12:g.120988856T>C	TOPMed,gnomAD
rs945554487	p.Pro982Ser	missense variant	-	NC_000002.12:g.120988858C>T	TOPMed,gnomAD
rs770249989	p.Pro982Gln	missense variant	-	NC_000002.12:g.120988859C>A	ExAC,gnomAD
rs770249989	p.Pro982Leu	missense variant	-	NC_000002.12:g.120988859C>T	ExAC,gnomAD
rs978189731	p.Arg983Leu	missense variant	-	NC_000002.12:g.120988862G>T	TOPMed,gnomAD
rs978189731	p.Arg983Pro	missense variant	-	NC_000002.12:g.120988862G>C	TOPMed,gnomAD
rs1283824297	p.Val984Met	missense variant	-	NC_000002.12:g.120988864G>A	gnomAD
rs1486577626	p.Gln985Ter	stop gained	-	NC_000002.12:g.120988867C>T	gnomAD
rs773752490	p.Arg986His	missense variant	-	NC_000002.12:g.120988871G>A	ExAC,TOPMed,gnomAD
rs911667474	p.Arg986Cys	missense variant	-	NC_000002.12:g.120988870C>T	TOPMed
rs773752490	p.Arg986Pro	missense variant	-	NC_000002.12:g.120988871G>C	ExAC,TOPMed,gnomAD
rs1482145486	p.His991Tyr	missense variant	-	NC_000002.12:g.120988885C>T	gnomAD
rs767022377	p.Val993Met	missense variant	-	NC_000002.12:g.120988891G>A	ExAC,TOPMed,gnomAD
rs1438576682	p.Asn994Lys	missense variant	-	NC_000002.12:g.120988896C>A	TOPMed,gnomAD
rs1039136345	p.Pro995Ser	missense variant	-	NC_000002.12:g.120988897C>T	TOPMed
rs1259431717	p.Gly996Arg	missense variant	-	NC_000002.12:g.120988900G>C	gnomAD
rs1397447428	p.Gly996Asp	missense variant	-	NC_000002.12:g.120988901G>A	gnomAD
rs563818052	p.Pro997Arg	missense variant	-	NC_000002.12:g.120988904C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs563818052	p.Pro997Leu	missense variant	-	NC_000002.12:g.120988904C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1173561321	p.Pro997Ala	missense variant	-	NC_000002.12:g.120988903C>G	gnomAD
rs1298989652	p.Leu998Pro	missense variant	-	NC_000002.12:g.120988907T>C	gnomAD
rs1194362558	p.Leu998Val	missense variant	-	NC_000002.12:g.120988906C>G	gnomAD
rs1444670785	p.Pro999Leu	missense variant	-	NC_000002.12:g.120988910C>T	TOPMed,gnomAD
rs1258599727	p.Pro1000Ser	missense variant	-	NC_000002.12:g.120988912C>T	TOPMed
rs1348680961	p.Pro1000Leu	missense variant	-	NC_000002.12:g.120988913C>T	gnomAD
rs1310260977	p.Cys1001Ser	missense variant	-	NC_000002.12:g.120988916G>C	gnomAD
rs1277802826	p.Cys1001Arg	missense variant	-	NC_000002.12:g.120988915T>C	gnomAD
rs1206309646	p.Ala1002Thr	missense variant	-	NC_000002.12:g.120988918G>A	gnomAD
rs760345085	p.Asp1003Glu	missense variant	-	NC_000002.12:g.120988923C>G	ExAC,gnomAD
rs1233125074	p.Asp1003Tyr	missense variant	-	NC_000002.12:g.120988921G>T	gnomAD
rs930268229	p.Asp1003Ala	missense variant	-	NC_000002.12:g.120988922A>C	TOPMed,gnomAD
rs1233125074	p.Asp1003Asn	missense variant	-	NC_000002.12:g.120988921G>A	gnomAD
rs1049016244	p.Arg1004Ser	missense variant	-	NC_000002.12:g.120988926G>C	TOPMed
rs763699269	p.Gly1006Arg	missense variant	-	NC_000002.12:g.120988930G>C	ExAC,TOPMed,gnomAD
rs761649381	p.Arg1008Ser	missense variant	-	NC_000002.12:g.120988936C>A	ExAC,TOPMed,gnomAD
rs1445373669	p.Arg1008Leu	missense variant	-	NC_000002.12:g.120988937G>T	TOPMed
rs761649381	p.Arg1008Cys	missense variant	-	NC_000002.12:g.120988936C>T	ExAC,TOPMed,gnomAD
rs1412017270	p.Gln1010Ter	stop gained	-	NC_000002.12:g.120988942C>T	gnomAD
rs1400437764	p.Ser1011Asn	missense variant	-	NC_000002.12:g.120988946G>A	TOPMed
rs780303555	p.Pro1013Arg	missense variant	-	NC_000002.12:g.120988952C>G	ExAC,TOPMed,gnomAD
rs780303555	p.Pro1013Leu	missense variant	-	NC_000002.12:g.120988952C>T	ExAC,TOPMed,gnomAD
rs1440223587	p.Ser1014Asn	missense variant	-	NC_000002.12:g.120988955G>A	gnomAD
rs1365347989	p.Asp1016Asn	missense variant	-	NC_000002.12:g.120988960G>A	gnomAD
rs781540070	p.Gly1017Asp	missense variant	-	NC_000002.12:g.120988964G>A	ExAC,TOPMed,gnomAD
rs1317069719	p.Gly1018Ser	missense variant	-	NC_000002.12:g.120988966G>A	gnomAD
rs1274644562	p.Ala1020Val	missense variant	-	NC_000002.12:g.120988973C>T	TOPMed,gnomAD
rs567643693	p.Ala1020Pro	missense variant	-	NC_000002.12:g.120988972G>C	1000Genomes,ExAC,gnomAD
rs749819734	p.Arg1021His	missense variant	-	NC_000002.12:g.120988976G>A	ExAC,TOPMed,gnomAD
rs777929230	p.Arg1021Cys	missense variant	-	NC_000002.12:g.120988975C>T	ExAC,TOPMed,gnomAD
rs1476635342	p.Gly1022Ser	missense variant	-	NC_000002.12:g.120988978G>A	gnomAD
rs771381877	p.Ala1023Thr	missense variant	-	NC_000002.12:g.120988981G>A	ExAC,gnomAD
rs1477028869	p.Tyr1024Cys	missense variant	-	NC_000002.12:g.120988985A>G	gnomAD
rs1200806790	p.Ser1025Ala	missense variant	-	NC_000002.12:g.120988987T>G	TOPMed
rs936860529	p.Ser1025Leu	missense variant	-	NC_000002.12:g.120988988C>T	gnomAD
rs531385991	p.Arg1027Gln	missense variant	-	NC_000002.12:g.120988994G>A	ExAC,TOPMed,gnomAD
rs1404870952	p.Arg1027Trp	missense variant	-	NC_000002.12:g.120988993C>T	gnomAD
rs776334630	p.Pro1028Thr	missense variant	-	NC_000002.12:g.120988996C>A	ExAC,gnomAD
rs776334630	p.Pro1028Ala	missense variant	-	NC_000002.12:g.120988996C>G	ExAC,gnomAD
rs765093621	p.Pro1029Leu	missense variant	-	NC_000002.12:g.120989000C>T	ExAC,gnomAD
rs761580748	p.Pro1029Ser	missense variant	-	NC_000002.12:g.120988999C>T	ExAC,gnomAD
rs750136710	p.Ile1031Val	missense variant	-	NC_000002.12:g.120989005A>G	ExAC,TOPMed,gnomAD
rs1208741501	p.Ser1032Arg	missense variant	-	NC_000002.12:g.120989010C>A	gnomAD
rs766387015	p.Glu1033Asp	missense variant	-	NC_000002.12:g.120989013G>C	ExAC,TOPMed,gnomAD
rs1287203228	p.Glu1033Lys	missense variant	-	NC_000002.12:g.120989011G>A	gnomAD
rs751735227	p.Asn1034Lys	missense variant	-	NC_000002.12:g.120989016C>A	ExAC,TOPMed,gnomAD
rs755093850	p.Ala1036Val	missense variant	-	NC_000002.12:g.120989021C>T	ExAC,TOPMed,gnomAD
rs1190464996	p.Met1037Thr	missense variant	-	NC_000002.12:g.120989024T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ala1039Ser	missense variant	-	NC_000002.12:g.120989029G>T	NCI-TCGA
rs1158444767	p.Ala1039Thr	missense variant	-	NC_000002.12:g.120989029G>A	TOPMed
rs1418852002	p.Ala1039Val	missense variant	-	NC_000002.12:g.120989030C>T	gnomAD
rs546947063	p.Val1040Met	missense variant	-	NC_000002.12:g.120989032G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs546947063	p.Val1040Leu	missense variant	-	NC_000002.12:g.120989032G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1019643953	p.Ala1041Gly	missense variant	-	NC_000002.12:g.120989036C>G	gnomAD
rs1410337412	p.Ala1041Ser	missense variant	-	NC_000002.12:g.120989035G>T	gnomAD
rs1359783541	p.Ala1042Thr	missense variant	-	NC_000002.12:g.120989038G>A	TOPMed,gnomAD
rs1359783541	p.Ala1042Ser	missense variant	-	NC_000002.12:g.120989038G>T	TOPMed,gnomAD
rs1314428926	p.Val1044Glu	missense variant	-	NC_000002.12:g.120989045T>A	gnomAD
rs752964383	p.Val1044Leu	missense variant	-	NC_000002.12:g.120989044G>T	ExAC,gnomAD
rs1340833371	p.Asp1045Val	missense variant	-	NC_000002.12:g.120989048A>T	gnomAD
rs778226507	p.Gly1046Cys	missense variant	-	NC_000002.12:g.120989050G>T	ExAC,gnomAD
rs897185156	p.Gly1048Arg	missense variant	-	NC_000002.12:g.120989056G>A	gnomAD
rs994573592	p.Pro1049Ser	missense variant	-	NC_000002.12:g.120989059C>T	TOPMed,gnomAD
rs1026265013	p.Glu1050Lys	missense variant	-	NC_000002.12:g.120989062G>A	gnomAD
rs1442199502	p.Ala1051Gly	missense variant	-	NC_000002.12:g.120989066C>G	gnomAD
rs746582228	p.Asp1052Tyr	missense variant	-	NC_000002.12:g.120989068G>T	ExAC,TOPMed,gnomAD
rs775938622	p.Asp1052Glu	missense variant	-	NC_000002.12:g.120989070C>G	ExAC,TOPMed,gnomAD
rs768151048	p.Asp1052Val	missense variant	-	NC_000002.12:g.120989069A>T	ExAC,gnomAD
rs1158057792	p.Gly1054Glu	missense variant	-	NC_000002.12:g.120989075G>A	TOPMed,gnomAD
rs374225016	p.Pro1056Ala	missense variant	-	NC_000002.12:g.120989080C>G	ESP,gnomAD
rs761549286	p.Pro1056Arg	missense variant	-	NC_000002.12:g.120989081C>G	ExAC,gnomAD
rs374225016	p.Pro1056Ser	missense variant	-	NC_000002.12:g.120989080C>T	ESP,gnomAD
rs761549286	p.Pro1056Leu	missense variant	-	NC_000002.12:g.120989081C>T	ExAC,gnomAD
rs1450753084	p.Glu1057Asp	missense variant	-	NC_000002.12:g.120989085G>C	TOPMed
rs1258559138	p.Glu1057Lys	missense variant	-	NC_000002.12:g.120989083G>A	gnomAD
rs759476656	p.Asp1059Val	missense variant	-	NC_000002.12:g.120989090A>T	ExAC,TOPMed,gnomAD
rs762818312	p.Asp1059His	missense variant	-	NC_000002.12:g.120989089G>C	ExAC,TOPMed,gnomAD
rs762818312	p.Asp1059Tyr	missense variant	-	NC_000002.12:g.120989089G>T	ExAC,TOPMed,gnomAD
rs767644818	p.Asp1059Glu	missense variant	-	NC_000002.12:g.120989091C>A	ExAC,gnomAD
rs767644818	p.Asp1059Glu	missense variant	-	NC_000002.12:g.120989091C>G	ExAC,gnomAD
rs762818312	p.Asp1059Asn	missense variant	-	NC_000002.12:g.120989089G>A	ExAC,TOPMed,gnomAD
rs1307819952	p.Leu1060Pro	missense variant	-	NC_000002.12:g.120989093T>C	gnomAD
COSM3565919	p.Pro1063Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989101C>T	NCI-TCGA Cosmic
rs1256789533	p.Asp1064Gly	missense variant	-	NC_000002.12:g.120989105A>G	gnomAD
rs764193976	p.Val1066Leu	missense variant	-	NC_000002.12:g.120989110G>C	ExAC,TOPMed,gnomAD
rs764193976	p.Val1066Met	missense variant	-	NC_000002.12:g.120989110G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val1067Leu	missense variant	-	NC_000002.12:g.120989113G>T	NCI-TCGA
rs1252938560	p.Val1067Met	missense variant	-	NC_000002.12:g.120989113G>A	TOPMed,gnomAD
rs1178246285	p.Gln1068Arg	missense variant	-	NC_000002.12:g.120989117A>G	gnomAD
rs1236506351	p.Tyr1069Asn	missense variant	-	NC_000002.12:g.120989119T>A	gnomAD
rs1455620973	p.Ile1070Val	missense variant	-	NC_000002.12:g.120989122A>G	gnomAD
rs757606652	p.Lys1071Glu	missense variant	-	NC_000002.12:g.120989125A>G	ExAC,gnomAD
rs757606652	p.Lys1071Gln	missense variant	-	NC_000002.12:g.120989125A>C	ExAC,gnomAD
rs1378085616	p.Ala1072Val	missense variant	-	NC_000002.12:g.120989129C>T	gnomAD
rs780785079	p.His1073Gln	missense variant	-	NC_000002.12:g.120989133C>A	ExAC,gnomAD
rs538722626	p.Ala1077Val	missense variant	-	NC_000002.12:g.120989144C>T	TOPMed
rs747578237	p.Ala1077Thr	missense variant	-	NC_000002.12:g.120989143G>A	ExAC,gnomAD
rs1330259381	p.Asp1079Asn	missense variant	-	NC_000002.12:g.120989149G>A	gnomAD
rs1165092642	p.Asp1079Gly	missense variant	-	NC_000002.12:g.120989150A>G	TOPMed
rs1442433669	p.Glu1080Lys	missense variant	-	NC_000002.12:g.120989152G>A	TOPMed,gnomAD
rs772723859	p.Gly1081Val	missense variant	-	NC_000002.12:g.120989156G>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr1082Asn	missense variant	-	NC_000002.12:g.120989159C>A	NCI-TCGA
rs1045997211	p.Thr1082Ala	missense variant	-	NC_000002.12:g.120989158A>G	TOPMed,gnomAD
rs1157253132	p.Thr1082Ile	missense variant	-	NC_000002.12:g.120989159C>T	gnomAD
COSM716017	p.Thr1082Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989159C>G	NCI-TCGA Cosmic
rs762719258	p.Gly1083Glu	missense variant	-	NC_000002.12:g.120989162G>A	ExAC,gnomAD
rs907053242	p.Gln1084Glu	missense variant	-	NC_000002.12:g.120989164C>G	TOPMed,gnomAD
rs774226078	p.Gln1084His	missense variant	-	NC_000002.12:g.120989166G>T	ExAC,TOPMed,gnomAD
COSM6153556	p.Gln1084His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989166G>C	NCI-TCGA Cosmic
rs1033775424	p.Pro1087Thr	missense variant	-	NC_000002.12:g.120989173C>A	TOPMed
rs767322106	p.Thr1088Met	missense variant	-	NC_000002.12:g.120989177C>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr1088Ser	missense variant	-	NC_000002.12:g.120989176A>T	NCI-TCGA
NCI-TCGA novel	p.Thr1088Ala	missense variant	-	NC_000002.12:g.120989176A>G	NCI-TCGA
rs764436534	p.Thr1091Ile	missense variant	-	NC_000002.12:g.120989186C>T	ExAC,gnomAD
rs754057218	p.Gly1092Asp	missense variant	-	NC_000002.12:g.120989189G>A	ExAC,gnomAD
rs1478006958	p.Phe1093Leu	missense variant	-	NC_000002.12:g.120989191T>C	gnomAD
rs139620354	p.Asp1095Glu	missense variant	-	NC_000002.12:g.120989199C>A	ESP,ExAC,TOPMed,gnomAD
rs959125673	p.Asp1095His	missense variant	-	NC_000002.12:g.120989197G>C	TOPMed
rs959125673	p.Asp1095Asn	missense variant	-	NC_000002.12:g.120989197G>A	TOPMed
rs1462586787	p.Asn1096Ser	missense variant	-	NC_000002.12:g.120989201A>G	gnomAD
rs765600180	p.Pro1097Leu	missense variant	-	NC_000002.12:g.120989204C>T	ExAC,gnomAD
rs750745447	p.Arg1098Ile	missense variant	-	NC_000002.12:g.120989207G>T	ExAC,gnomAD
rs750745447	p.Arg1098Lys	missense variant	-	NC_000002.12:g.120989207G>A	ExAC,gnomAD
rs1385662301	p.Leu1099Gln	missense variant	-	NC_000002.12:g.120989210T>A	gnomAD
rs1298335402	p.Pro1100His	missense variant	-	NC_000002.12:g.120989213C>A	gnomAD
rs758984235	p.Pro1102Arg	missense variant	-	NC_000002.12:g.120989219C>G	ExAC,TOPMed,gnomAD
COSM5994274	p.Pro1102Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989219C>T	NCI-TCGA Cosmic
rs867862228	p.Gly1103Arg	missense variant	-	NC_000002.12:g.120989221G>A	TOPMed
rs747750495	p.Gly1103Val	missense variant	-	NC_000002.12:g.120989222G>T	ExAC,gnomAD
rs1264996237	p.Gly1106Arg	missense variant	-	NC_000002.12:g.120989230G>C	TOPMed,gnomAD
rs777267988	p.Gly1106Val	missense variant	-	NC_000002.12:g.120989231G>T	ExAC,gnomAD
rs1264996237	p.Gly1106Ser	missense variant	-	NC_000002.12:g.120989230G>A	TOPMed,gnomAD
rs777267988	p.Gly1106Asp	missense variant	-	NC_000002.12:g.120989231G>A	ExAC,gnomAD
rs1303882655	p.Gln1107His	missense variant	-	NC_000002.12:g.120989235G>C	gnomAD
rs745631814	p.Arg1108Leu	missense variant	-	NC_000002.12:g.120989237G>T	ExAC,TOPMed,gnomAD
rs774322148	p.Arg1108Cys	missense variant	-	NC_000002.12:g.120989236C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg1109Met	missense variant	-	NC_000002.12:g.120989240G>T	NCI-TCGA
rs1192613952	p.Met1110Leu	missense variant	-	NC_000002.12:g.120989242A>T	gnomAD
rs772098216	p.Val1111Ala	missense variant	-	NC_000002.12:g.120989246T>C	ExAC,gnomAD
rs1476019294	p.Ala1112Thr	missense variant	-	NC_000002.12:g.120989248G>A	TOPMed,gnomAD
rs775280334	p.Asp1114Tyr	missense variant	-	NC_000002.12:g.120989254G>T	ExAC,TOPMed,gnomAD
rs760876044	p.Asp1114Glu	missense variant	-	NC_000002.12:g.120989256C>G	ExAC,gnomAD
rs768624852	p.Ser1115Phe	missense variant	-	NC_000002.12:g.120989258C>T	ExAC,TOPMed,gnomAD
rs368638181	p.Asn1116Lys	missense variant	-	NC_000002.12:g.120989262C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs202220727	p.Asn1116Ser	missense variant	-	NC_000002.12:g.120989261A>G	1000Genomes,ExAC,gnomAD
rs147580961	p.Val1117Leu	missense variant	-	NC_000002.12:g.120989263G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1296674536	p.Gly1118Arg	missense variant	-	NC_000002.12:g.120989266G>C	gnomAD
rs975278086	p.Ser1120Phe	missense variant	-	NC_000002.12:g.120989273C>T	TOPMed,gnomAD
rs1246994636	p.Ser1120Pro	missense variant	-	NC_000002.12:g.120989272T>C	TOPMed
rs752010477	p.Ala1121Val	missense variant	-	NC_000002.12:g.120989276C>T	ExAC,gnomAD
rs752010477	p.Ala1121Gly	missense variant	-	NC_000002.12:g.120989276C>G	ExAC,gnomAD
rs368122191	p.Ala1121Thr	missense variant	-	NC_000002.12:g.120989275G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368122191	p.Ala1121Pro	missense variant	-	NC_000002.12:g.120989275G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755452359	p.Pro1122Ser	missense variant	-	NC_000002.12:g.120989278C>T	ExAC
rs1199775213	p.Met1123Leu	missense variant	-	NC_000002.12:g.120989281A>C	TOPMed
rs777445046	p.Met1123Arg	missense variant	-	NC_000002.12:g.120989282T>G	ExAC,gnomAD
rs753361318	p.Gly1125Arg	missense variant	-	NC_000002.12:g.120989287G>A	ExAC,gnomAD
rs562657085	p.Leu1129Ser	missense variant	-	NC_000002.12:g.120989300T>C	1000Genomes,ExAC,gnomAD
rs1215796726	p.Phe1131Ser	missense variant	-	NC_000002.12:g.120989306T>C	gnomAD
rs745719628	p.Ala1133Thr	missense variant	-	NC_000002.12:g.120989311G>A	ExAC,gnomAD
rs771760319	p.Ala1133Val	missense variant	-	NC_000002.12:g.120989312C>T	ExAC,gnomAD
rs1320649360	p.Pro1134Leu	missense variant	-	NC_000002.12:g.120989315C>T	TOPMed
rs140601980	p.Ser1135Tyr	missense variant	-	NC_000002.12:g.120989318C>A	ESP,ExAC,gnomAD
rs1182138685	p.Ser1135Pro	missense variant	-	NC_000002.12:g.120989317T>C	gnomAD
rs140601980	p.Ser1135Cys	missense variant	-	NC_000002.12:g.120989318C>G	ESP,ExAC,gnomAD
rs1421578070	p.Asn1138Asp	missense variant	-	NC_000002.12:g.120989326A>G	gnomAD
rs768591353	p.Lys1139Glu	missense variant	-	NC_000002.12:g.120989329A>G	ExAC,TOPMed,gnomAD
rs776730340	p.Asn1140Lys	missense variant	-	NC_000002.12:g.120989334T>A	ExAC,TOPMed,gnomAD
rs761857488	p.Asn1141Ile	missense variant	-	NC_000002.12:g.120989336A>T	ExAC,gnomAD
NCI-TCGA novel	p.Met1142Ile	missense variant	-	NC_000002.12:g.120989340G>A	NCI-TCGA
rs1276884623	p.Met1142Thr	missense variant	-	NC_000002.12:g.120989339T>C	TOPMed
rs770059172	p.Pro1143Ser	missense variant	-	NC_000002.12:g.120989341C>T	ExAC,TOPMed,gnomAD
rs770059172	p.Pro1143Ala	missense variant	-	NC_000002.12:g.120989341C>G	ExAC,TOPMed,gnomAD
rs773417936	p.Trp1146Leu	missense variant	-	NC_000002.12:g.120989351G>T	ExAC,gnomAD
rs763165545	p.Trp1146Cys	missense variant	-	NC_000002.12:g.120989352G>C	ExAC,gnomAD
COSM4846981	p.Glu1148Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989356G>C	NCI-TCGA Cosmic
rs887719452	p.Ser1151Thr	missense variant	-	NC_000002.12:g.120989365T>A	TOPMed
rs367560592	p.Ser1151Cys	missense variant	-	NC_000002.12:g.120989366C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768110500	p.Gly1152Asp	missense variant	-	NC_000002.12:g.120989369G>A	ExAC,TOPMed,gnomAD
rs768110500	p.Gly1152Ala	missense variant	-	NC_000002.12:g.120989369G>C	ExAC,TOPMed,gnomAD
COSM1005999	p.Gly1152Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989368G>A	NCI-TCGA Cosmic
rs756818605	p.Thr1153Ile	missense variant	-	NC_000002.12:g.120989372C>T	ExAC,gnomAD
NCI-TCGA novel	p.Val1154Ter	frameshift	-	NC_000002.12:g.120989372C>-	NCI-TCGA
rs200999705	p.Val1154Ile	missense variant	-	NC_000002.12:g.120989374G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs755789095	p.Val1154Gly	missense variant	-	NC_000002.12:g.120989375T>G	TOPMed,gnomAD
rs1437468060	p.Asp1155Ala	missense variant	-	NC_000002.12:g.120989378A>C	TOPMed
rs3738880	p.Ala1156Ser	missense variant	-	NC_000002.12:g.120989380G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs3738880	p.Ala1156Ser	missense variant	-	NC_000002.12:g.120989380G>T	UniProt,dbSNP
VAR_047306	p.Ala1156Ser	missense variant	-	NC_000002.12:g.120989380G>T	UniProt
rs886054816	p.Ala1156Val	missense variant	-	NC_000002.12:g.120989381C>T	TOPMed
rs141988240	p.Leu1157Val	missense variant	-	NC_000002.12:g.120989383C>G	ESP,ExAC,TOPMed,gnomAD
rs999901522	p.Ala1158Val	missense variant	-	NC_000002.12:g.120989387C>T	TOPMed,gnomAD
rs768627802	p.Ser1159Asn	missense variant	-	NC_000002.12:g.120989390G>A	ExAC,TOPMed,gnomAD
rs1238186456	p.Val1161Glu	missense variant	-	NC_000002.12:g.120989396T>A	TOPMed
rs781094176	p.Val1161Met	missense variant	-	NC_000002.12:g.120989395G>A	ExAC,gnomAD
rs190017682	p.Lys1162Arg	missense variant	-	NC_000002.12:g.120989399A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1357654147	p.Pro1164Leu	missense variant	-	NC_000002.12:g.120989405C>T	gnomAD
rs769864629	p.Pro1164Ala	missense variant	-	NC_000002.12:g.120989404C>G	ExAC,gnomAD
rs1357654147	p.Pro1164Gln	missense variant	-	NC_000002.12:g.120989405C>A	gnomAD
rs749492360	p.Pro1165His	missense variant	-	NC_000002.12:g.120989408C>A	ExAC,gnomAD
rs1332265944	p.Pro1165Ala	missense variant	-	NC_000002.12:g.120989407C>G	gnomAD
rs749492360	p.Pro1165Arg	missense variant	-	NC_000002.12:g.120989408C>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro1167Ser	missense variant	-	NC_000002.12:g.120989413C>T	NCI-TCGA
rs1444598825	p.Pro1167Ala	missense variant	-	NC_000002.12:g.120989413C>G	gnomAD
rs1307034642	p.Gln1168Lys	missense variant	-	NC_000002.12:g.120989416C>A	gnomAD
rs771141522	p.Gln1168His	missense variant	-	NC_000002.12:g.120989418G>T	ExAC,gnomAD
rs774621936	p.Asn1170Lys	missense variant	-	NC_000002.12:g.120989424C>G	ExAC,gnomAD
rs759924730	p.Ala1172Val	missense variant	-	NC_000002.12:g.120989429C>T	ExAC,gnomAD
rs761198680	p.Val1173Leu	missense variant	-	NC_000002.12:g.120989431G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln1175Lys	missense variant	-	NC_000002.12:g.120989437C>A	NCI-TCGA
rs139686081	p.Gln1176His	missense variant	-	NC_000002.12:g.120989442G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs977801911	p.Lys1177Glu	missense variant	-	NC_000002.12:g.120989443A>G	TOPMed,gnomAD
rs758020307	p.Ala1179Thr	missense variant	-	NC_000002.12:g.120989449G>A	ExAC,TOPMed,gnomAD
rs751366504	p.Gln1182Lys	missense variant	-	NC_000002.12:g.120989458C>A	ExAC,TOPMed,gnomAD
rs1423564697	p.Tyr1183Asp	missense variant	-	NC_000002.12:g.120989461T>G	TOPMed,gnomAD
rs754763067	p.Pro1184Gln	missense variant	-	NC_000002.12:g.120989465C>A	ExAC,gnomAD
rs754763067	p.Pro1184Leu	missense variant	-	NC_000002.12:g.120989465C>T	ExAC,gnomAD
COSM6153554	p.Pro1184Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989464C>A	NCI-TCGA Cosmic
rs1171685895	p.Gly1185Asp	missense variant	-	NC_000002.12:g.120989468G>A	gnomAD
rs748088531	p.Tyr1186Cys	missense variant	-	NC_000002.12:g.120989471A>G	ExAC,gnomAD
rs1350528681	p.Ser1187Gly	missense variant	-	NC_000002.12:g.120989473A>G	gnomAD
rs1220739775	p.Ser1187Arg	missense variant	-	NC_000002.12:g.120989475T>A	gnomAD
rs145212051	p.Pro1188Arg	missense variant	-	NC_000002.12:g.120989477C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145212051	p.Pro1188Leu	missense variant	-	NC_000002.12:g.120989477C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774621554	p.Gly1190Val	missense variant	-	NC_000002.12:g.120989483G>T	ExAC,TOPMed,gnomAD
rs1196603541	p.Gly1190Ser	missense variant	-	NC_000002.12:g.120989482G>A	gnomAD
rs1278476876	p.Gln1192Pro	missense variant	-	NC_000002.12:g.120989489A>C	gnomAD
rs761286894	p.Ser1194Arg	missense variant	-	NC_000002.12:g.120989496C>A	ExAC,gnomAD
rs200034506	p.Ser1194Asn	missense variant	-	NC_000002.12:g.120989495G>A	ExAC,TOPMed,gnomAD
rs200034506	p.Ser1194Ile	missense variant	-	NC_000002.12:g.120989495G>T	ExAC,TOPMed,gnomAD
rs1259978045	p.Ser1194Arg	missense variant	-	NC_000002.12:g.120989494A>C	TOPMed
rs1291472973	p.Pro1195Thr	missense variant	-	NC_000002.12:g.120989497C>A	gnomAD
COSM4921882	p.Gly1196Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989501G>A	NCI-TCGA Cosmic
rs114823319	p.Gly1197Asp	missense variant	-	NC_000002.12:g.120989504G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1221545910	p.Gly1197Cys	missense variant	-	NC_000002.12:g.120989503G>T	TOPMed,gnomAD
rs1221545910	p.Gly1197Ser	missense variant	-	NC_000002.12:g.120989503G>A	TOPMed,gnomAD
rs751228632	p.Asp1199Val	missense variant	-	NC_000002.12:g.120989510A>T	ExAC,gnomAD
rs1194754805	p.Ser1200Asn	missense variant	-	NC_000002.12:g.120989513G>A	gnomAD
rs376756023	p.Thr1201Met	missense variant	-	NC_000002.12:g.120989516C>T	ESP,TOPMed,gnomAD
rs1423198282	p.Thr1201Ser	missense variant	-	NC_000002.12:g.120989515A>T	gnomAD
rs1322837852	p.His1204Gln	missense variant	-	NC_000002.12:g.120989526C>A	gnomAD
rs1404815951	p.His1204Tyr	missense variant	-	NC_000002.12:g.120989524C>T	gnomAD
rs1400303256	p.Pro1207Ser	missense variant	-	NC_000002.12:g.120989533C>T	gnomAD
rs756081434	p.Pro1207His	missense variant	-	NC_000002.12:g.120989534C>A	ExAC,gnomAD
rs200537256	p.Arg1208His	missense variant	-	NC_000002.12:g.120989537G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201103063	p.Arg1208Cys	missense variant	-	NC_000002.12:g.120989536C>T	TOPMed
rs201103063	p.Arg1208Gly	missense variant	-	NC_000002.12:g.120989536C>G	TOPMed
rs757358215	p.Ser1209Arg	missense variant	-	NC_000002.12:g.120989541C>G	ExAC,TOPMed,gnomAD
rs138909736	p.Ser1209Ile	missense variant	-	NC_000002.12:g.120989540G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150417879	p.Gly1210Arg	missense variant	-	NC_000002.12:g.120989542G>A	1000Genomes,ESP,ExAC,gnomAD
rs1163477393	p.Gly1210Glu	missense variant	-	NC_000002.12:g.120989543G>A	TOPMed
rs1356398498	p.Ala1211Asp	missense variant	-	NC_000002.12:g.120989546C>A	gnomAD
rs780598193	p.Pro1212Thr	missense variant	-	NC_000002.12:g.120989548C>A	ExAC,TOPMed,gnomAD
rs777189943	p.Gln1214His	missense variant	-	NC_000002.12:g.120989556G>C	ExAC,TOPMed,gnomAD
rs149554935	p.Gly1215Ser	missense variant	-	NC_000002.12:g.120989557G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375495972	p.Gly1215Ala	missense variant	-	NC_000002.12:g.120989558G>C	ESP,ExAC,TOPMed,gnomAD
rs375495972	p.Gly1215Val	missense variant	-	NC_000002.12:g.120989558G>T	ESP,ExAC,TOPMed,gnomAD
rs375495972	p.Gly1215Asp	missense variant	-	NC_000002.12:g.120989558G>A	ESP,ExAC,TOPMed,gnomAD
rs767122616	p.Ile1216Met	missense variant	-	NC_000002.12:g.120989562C>G	ExAC,TOPMed,gnomAD
rs752535265	p.Pro1217His	missense variant	-	NC_000002.12:g.120989564C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1218Ser	missense variant	-	NC_000002.12:g.120989568G>T	NCI-TCGA
COSM3565925	p.Val1219Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989569G>A	NCI-TCGA Cosmic
rs574652470	p.Asn1220Lys	missense variant	-	NC_000002.12:g.120989574C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs760453341	p.Asn1220Ser	missense variant	-	NC_000002.12:g.120989573A>G	ExAC,gnomAD
rs369899304	p.Tyr1221Asp	missense variant	-	NC_000002.12:g.120989575T>G	ESP,ExAC,TOPMed,gnomAD
rs757088907	p.Met1222Leu	missense variant	-	NC_000002.12:g.120989578A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1225Met	missense variant	-	NC_000002.12:g.120989587C>A	NCI-TCGA
rs779072625	p.Leu1225Pro	missense variant	-	NC_000002.12:g.120989588T>C	ExAC
rs543155526	p.Arg1226Gln	missense variant	-	NC_000002.12:g.120989591G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM1399118	p.Arg1226Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.120989590C>T	NCI-TCGA Cosmic
rs780403648	p.Gly1231Ala	missense variant	-	NC_000002.12:g.120989606G>C	ExAC,TOPMed,gnomAD
rs780403648	p.Gly1231Asp	missense variant	-	NC_000002.12:g.120989606G>A	ExAC,TOPMed,gnomAD
rs781353780	p.Ser1232Asn	missense variant	-	NC_000002.12:g.120989609G>A	ExAC,gnomAD
rs377503122	p.Gln1233Arg	missense variant	-	NC_000002.12:g.120989612A>G	ESP,TOPMed,gnomAD
rs368879160	p.Gln1233His	missense variant	-	NC_000002.12:g.120989613G>C	ESP,ExAC,TOPMed,gnomAD
COSM3406825	p.Gly1236Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989621G>A	NCI-TCGA Cosmic
rs372563328	p.Thr1239Ser	missense variant	-	NC_000002.12:g.120989630C>G	ESP,ExAC,TOPMed,gnomAD
rs372563328	p.Thr1239Ile	missense variant	-	NC_000002.12:g.120989630C>T	ESP,ExAC,TOPMed,gnomAD
rs1441997643	p.Thr1240Ser	missense variant	-	NC_000002.12:g.120989632A>T	gnomAD
rs374416094	p.Met1241Leu	missense variant	-	NC_000002.12:g.120989635A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374416094	p.Met1241Val	missense variant	-	NC_000002.12:g.120989635A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138191075	p.Met1241Ile	missense variant	-	NC_000002.12:g.120989637G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775121883	p.Ser1242Arg	missense variant	-	NC_000002.12:g.120989640C>A	ExAC,TOPMed,gnomAD
rs763967506	p.Pro1243Ser	missense variant	-	NC_000002.12:g.120989641C>T	ExAC,TOPMed,gnomAD
rs201543141	p.Ala1245Asp	missense variant	-	NC_000002.12:g.120989648C>A	1000Genomes,gnomAD
rs140457296	p.Ala1245Thr	missense variant	-	NC_000002.12:g.120989647G>A	ESP,ExAC,gnomAD
rs377085645	p.Tyr1247Cys	missense variant	-	NC_000002.12:g.120989654A>G	ESP,ExAC,TOPMed,gnomAD
rs750581555	p.His1251Pro	missense variant	-	NC_000002.12:g.120989666A>C	ExAC,gnomAD
NCI-TCGA novel	p.Pro1252Leu	missense variant	-	NC_000002.12:g.120989669C>T	NCI-TCGA
rs1334252087	p.Pro1252Thr	missense variant	-	NC_000002.12:g.120989668C>A	gnomAD
NCI-TCGA novel	p.Gln1253SerPheSerTerUnk	frameshift	-	NC_000002.12:g.120989667C>-	NCI-TCGA
rs758545876	p.Gln1253Glu	missense variant	-	NC_000002.12:g.120989671C>G	ExAC,gnomAD
rs1216743068	p.Ser1255Arg	missense variant	-	NC_000002.12:g.120989679C>A	gnomAD
rs780215160	p.Ser1260Asn	missense variant	-	NC_000002.12:g.120989693G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala1262Val	missense variant	-	NC_000002.12:g.120989699C>T	NCI-TCGA
rs201958776	p.Asn1264Lys	missense variant	-	NC_000002.12:g.120989706C>G	1000Genomes,ExAC,gnomAD
rs201958776	p.Asn1264Lys	missense variant	-	NC_000002.12:g.120989706C>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gln1265Ter	stop gained	-	NC_000002.12:g.120989707C>T	NCI-TCGA
NCI-TCGA novel	p.Pro1267Thr	missense variant	-	NC_000002.12:g.120989713C>A	NCI-TCGA
rs1469916040	p.Gln1268Glu	missense variant	-	NC_000002.12:g.120989716C>G	TOPMed
rs771577944	p.Ser1269Phe	missense variant	-	NC_000002.12:g.120989720C>T	ExAC
rs1237511260	p.Asn1272Asp	missense variant	-	NC_000002.12:g.120989728A>G	gnomAD
rs768154558	p.Pro1274Ser	missense variant	-	NC_000002.12:g.120989734C>T	ExAC,gnomAD
rs776530841	p.Ala1275Gly	missense variant	-	NC_000002.12:g.120989738C>G	ExAC,gnomAD
rs1200911614	p.Ala1275Thr	missense variant	-	NC_000002.12:g.120989737G>A	gnomAD
rs761492633	p.Gly1278Glu	missense variant	-	NC_000002.12:g.120989747G>A	ExAC,gnomAD
NCI-TCGA novel	p.His1279Arg	missense variant	-	NC_000002.12:g.120989750A>G	NCI-TCGA
rs1173839344	p.His1279Pro	missense variant	-	NC_000002.12:g.120989750A>C	gnomAD
rs1425274542	p.Gly1281Val	missense variant	-	NC_000002.12:g.120989756G>T	gnomAD
NCI-TCGA novel	p.His1282Arg	missense variant	-	NC_000002.12:g.120989759A>G	NCI-TCGA
NCI-TCGA novel	p.Pro1283Ala	missense variant	-	NC_000002.12:g.120989761C>G	NCI-TCGA
rs1270489477	p.Pro1283Thr	missense variant	-	NC_000002.12:g.120989761C>A	TOPMed
rs765325264	p.Gln1284Arg	missense variant	-	NC_000002.12:g.120989765A>G	ExAC,gnomAD
rs773285493	p.Gln1285Arg	missense variant	-	NC_000002.12:g.120989768A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr1286Ala	missense variant	-	NC_000002.12:g.120989770A>G	NCI-TCGA
rs1389095782	p.Thr1286Lys	missense variant	-	NC_000002.12:g.120989771C>A	gnomAD
rs1324744987	p.Ala1289Ser	missense variant	-	NC_000002.12:g.120989779G>T	gnomAD
rs762925931	p.Ala1289Val	missense variant	-	NC_000002.12:g.120989780C>T	ExAC,TOPMed,gnomAD
rs1395985905	p.Pro1290Leu	missense variant	-	NC_000002.12:g.120989783C>T	TOPMed
rs149872935	p.Pro1290Ser	missense variant	-	NC_000002.12:g.120989782C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1292His	missense variant	-	NC_000002.12:g.120989789C>A	NCI-TCGA
rs755264335	p.Thr1293Ala	missense variant	-	NC_000002.12:g.120989791A>G	ExAC,gnomAD
rs767608623	p.Thr1294Met	missense variant	-	NC_000002.12:g.120989795C>T	ExAC,gnomAD
rs749812469	p.Asn1297Ser	missense variant	-	NC_000002.12:g.120989804A>G	ExAC,gnomAD
rs778047825	p.Asn1297Asp	missense variant	-	NC_000002.12:g.120989803A>G	ExAC,gnomAD
rs757716894	p.Arg1298Cys	missense variant	-	NC_000002.12:g.120989806C>T	ExAC,gnomAD
rs370407550	p.Arg1298His	missense variant	-	NC_000002.12:g.120989807G>A	ESP,ExAC,gnomAD
rs746470573	p.Arg1300Gly	missense variant	-	NC_000002.12:g.120989812A>G	ExAC,TOPMed,gnomAD
COSM3668807	p.Arg1300Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989813G>A	NCI-TCGA Cosmic
rs768405449	p.Glu1301Val	missense variant	-	NC_000002.12:g.120989816A>T	ExAC,TOPMed,gnomAD
rs768405449	p.Glu1301Gly	missense variant	-	NC_000002.12:g.120989816A>G	ExAC,TOPMed,gnomAD
rs562751864	p.Leu1302Pro	missense variant	-	NC_000002.12:g.120989819T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs769722637	p.Gly1303Val	missense variant	-	NC_000002.12:g.120989822G>T	ExAC
NCI-TCGA novel	p.Val1304GlyPheSerTerUnkUnkUnk	frameshift	-	NC_000002.12:g.120989820_120989821insG	NCI-TCGA
rs918722071	p.Val1304Ile	missense variant	-	NC_000002.12:g.120989824G>A	gnomAD
COSM3565926	p.Pro1305Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989828C>T	NCI-TCGA Cosmic
rs12711538	p.Asp1306Asn	missense variant	-	NC_000002.12:g.120989830G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1390565661	p.Ser1307Pro	missense variant	-	NC_000002.12:g.120989833T>C	gnomAD
rs1403509982	p.Ala1308Val	missense variant	-	NC_000002.12:g.120989837C>T	gnomAD
NCI-TCGA novel	p.Ala1310Ser	missense variant	-	NC_000002.12:g.120989842G>T	NCI-TCGA
rs1300501583	p.Ala1310Val	missense variant	-	NC_000002.12:g.120989843C>T	gnomAD
rs140954953	p.Gly1311Ala	missense variant	-	NC_000002.12:g.120989846G>C	ESP,ExAC,TOPMed,gnomAD
rs766383275	p.Gly1311Arg	missense variant	-	NC_000002.12:g.120989845G>A	ExAC,gnomAD
rs140954953	p.Gly1311Glu	missense variant	-	NC_000002.12:g.120989846G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1313Gln	missense variant	-	NC_000002.12:g.120989852C>A	NCI-TCGA
rs767845340	p.Pro1313Thr	missense variant	-	NC_000002.12:g.120989851C>A	ExAC,gnomAD
rs756274499	p.Pro1313Leu	missense variant	-	NC_000002.12:g.120989852C>T	ExAC,TOPMed,gnomAD
rs767845340	p.Pro1313Ser	missense variant	-	NC_000002.12:g.120989851C>T	ExAC,gnomAD
rs754165669	p.Pro1314Ser	missense variant	-	NC_000002.12:g.120989854C>T	ExAC,TOPMed,gnomAD
rs779370829	p.Pro1315Leu	missense variant	-	NC_000002.12:g.120989858C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro1315His	missense variant	-	NC_000002.12:g.120989858C>A	NCI-TCGA
rs114376238	p.Pro1315Ser	missense variant	-	NC_000002.12:g.120989857C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His1316Asp	missense variant	-	NC_000002.12:g.120989860C>G	NCI-TCGA
rs1488474574	p.Pro1317Ser	missense variant	-	NC_000002.12:g.120989863C>T	gnomAD
COSM3565927	p.Pro1317Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989864C>T	NCI-TCGA Cosmic
rs150434714	p.Val1318Ile	missense variant	-	NC_000002.12:g.120989866G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1259184973	p.Gln1319Arg	missense variant	-	NC_000002.12:g.120989870A>G	gnomAD
rs1234504471	p.His1326Gln	missense variant	-	NC_000002.12:g.120989892T>A	TOPMed
rs145147250	p.His1326Arg	missense variant	-	NC_000002.12:g.120989891A>G	1000Genomes,ExAC,gnomAD
rs1367371040	p.His1326Tyr	missense variant	-	NC_000002.12:g.120989890C>T	gnomAD
COSM1399119	p.His1327Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989895C>G	NCI-TCGA Cosmic
rs769530846	p.Leu1328Arg	missense variant	-	NC_000002.12:g.120989897T>G	ExAC,gnomAD
rs1419431970	p.Ala1329Ser	missense variant	-	NC_000002.12:g.120989899G>T	gnomAD
rs777745873	p.Ser1331Phe	missense variant	-	NC_000002.12:g.120989906C>T	ExAC,gnomAD
COSM4926195	p.Ser1331Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989905T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Met1332Ile	missense variant	-	NC_000002.12:g.120989910G>A	NCI-TCGA
rs749064978	p.Met1332Val	missense variant	-	NC_000002.12:g.120989908A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser1333Asn	missense variant	-	NC_000002.12:g.120989912G>A	NCI-TCGA
NCI-TCGA novel	p.Glu1335Asp	missense variant	-	NC_000002.12:g.120989919G>C	NCI-TCGA
rs771047694	p.Gly1336Asp	missense variant	-	NC_000002.12:g.120989921G>A	ExAC,gnomAD
rs774148686	p.His1338Arg	missense variant	-	NC_000002.12:g.120989927A>G	ExAC,gnomAD
rs1372738733	p.Gln1339His	missense variant	-	NC_000002.12:g.120989931G>C	TOPMed
NCI-TCGA novel	p.Val1340Asp	missense variant	-	NC_000002.12:g.120989933T>A	NCI-TCGA
rs759453086	p.Val1340Leu	missense variant	-	NC_000002.12:g.120989932G>C	ExAC,TOPMed,gnomAD
rs999363736	p.Pro1341Leu	missense variant	-	NC_000002.12:g.120989936C>T	TOPMed
rs1336856462	p.Ser1342Asn	missense variant	-	NC_000002.12:g.120989939G>A	TOPMed
rs775594660	p.Ala1346Ser	missense variant	-	NC_000002.12:g.120989950G>T	ExAC,gnomAD
rs556459012	p.Arg1347Cys	missense variant	-	NC_000002.12:g.120989953C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs764270076	p.Arg1347His	missense variant	-	NC_000002.12:g.120989954G>A	ExAC,TOPMed,gnomAD
rs764270076	p.Arg1347Pro	missense variant	-	NC_000002.12:g.120989954G>C	ExAC,TOPMed,gnomAD
rs754251258	p.Gln1348His	missense variant	-	NC_000002.12:g.120989958G>C	ExAC,TOPMed,gnomAD
rs149140724	p.Met1352Val	missense variant	-	NC_000002.12:g.120989968A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775213696	p.Glu1353Lys	missense variant	-	NC_000002.12:g.120989971G>A	ExAC,gnomAD
rs1440454658	p.Pro1354Leu	missense variant	-	NC_000002.12:g.120989975C>T	TOPMed
rs1344435528	p.Thr1356Pro	missense variant	-	NC_000002.12:g.120989980A>C	gnomAD
rs760434927	p.Gly1357Asp	missense variant	-	NC_000002.12:g.120989984G>A	ExAC,TOPMed,gnomAD
COSM232410	p.Gly1357Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989984G>T	NCI-TCGA Cosmic
rs780598328	p.Pro1358Leu	missense variant	-	NC_000002.12:g.120989987C>T	ExAC,gnomAD
rs755875503	p.Met1359Thr	missense variant	-	NC_000002.12:g.120989990T>C	ExAC,gnomAD
rs1466803098	p.Met1359Ile	missense variant	-	NC_000002.12:g.120989991G>A	TOPMed,gnomAD
rs777551364	p.Gly1360Glu	missense variant	-	NC_000002.12:g.120989993G>A	ExAC,TOPMed,gnomAD
rs777551364	p.Gly1360Val	missense variant	-	NC_000002.12:g.120989993G>T	ExAC,TOPMed,gnomAD
rs777551364	p.Gly1360Ala	missense variant	-	NC_000002.12:g.120989993G>C	ExAC,TOPMed,gnomAD
rs145939921	p.Val1361Leu	missense variant	-	NC_000002.12:g.120989995G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3797907	p.Ala1362Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989998G>A	NCI-TCGA Cosmic
rs1449022922	p.Thr1363Ile	missense variant	-	NC_000002.12:g.120990002C>T	TOPMed,gnomAD
rs878895919	p.Ala1364Ser	missense variant	-	NC_000002.12:g.120990004G>T	-
COSM6153553	p.Ala1364Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990004G>A	NCI-TCGA Cosmic
rs1223136757	p.Phe1366Cys	missense variant	-	NC_000002.12:g.120990011T>G	gnomAD
rs1304690842	p.Val1369Met	missense variant	-	NC_000002.12:g.120990019G>A	gnomAD
COSM6087252	p.Gln1370His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990024G>T	NCI-TCGA Cosmic
rs768387647	p.Pro1371Leu	missense variant	-	NC_000002.12:g.120990026C>T	ExAC,gnomAD
rs745816777	p.Arg1372Gly	missense variant	-	NC_000002.12:g.120990028C>G	ExAC,TOPMed,gnomAD
rs201915462	p.Arg1372Gln	missense variant	-	NC_000002.12:g.120990029G>A	ESP,ExAC,TOPMed,gnomAD
rs201915462	p.Arg1372Leu	missense variant	-	NC_000002.12:g.120990029G>T	ESP,ExAC,TOPMed,gnomAD
rs745816777	p.Arg1372Trp	missense variant	-	NC_000002.12:g.120990028C>T	ExAC,TOPMed,gnomAD
rs1313867219	p.Pro1373Leu	missense variant	-	NC_000002.12:g.120990032C>T	TOPMed
rs371219507	p.Leu1375Pro	missense variant	-	NC_000002.12:g.120990038T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1480624580	p.Leu1375Phe	missense variant	-	NC_000002.12:g.120990037C>T	gnomAD
rs768928173	p.Glu1376Lys	missense variant	-	NC_000002.12:g.120990040G>A	ExAC,TOPMed,gnomAD
rs1427407202	p.Ser1378Arg	missense variant	-	NC_000002.12:g.120990048C>A	TOPMed,gnomAD
rs776832448	p.Ser1378Asn	missense variant	-	NC_000002.12:g.120990047G>A	ExAC,gnomAD
rs1410194190	p.Pro1379Ala	missense variant	-	NC_000002.12:g.120990049C>G	TOPMed
rs200080112	p.Arg1382His	missense variant	-	NC_000002.12:g.120990059G>A	ESP,ExAC,TOPMed,gnomAD
rs761959609	p.Arg1382Cys	missense variant	-	NC_000002.12:g.120990058C>T	ExAC,TOPMed,gnomAD
rs750756306	p.His1383Gln	missense variant	-	NC_000002.12:g.120990063C>G	ExAC,TOPMed,gnomAD
rs1417157202	p.His1383Tyr	missense variant	-	NC_000002.12:g.120990061C>T	TOPMed
rs763852684	p.Arg1384Leu	missense variant	-	NC_000002.12:g.120990065G>T	ExAC,TOPMed,gnomAD
rs763406790	p.Arg1384Cys	missense variant	-	NC_000002.12:g.120990064C>T	ExAC,TOPMed,gnomAD
rs763852684	p.Arg1384His	missense variant	-	NC_000002.12:g.120990065G>A	ExAC,TOPMed,gnomAD
rs763406790	p.Arg1384Ser	missense variant	-	NC_000002.12:g.120990064C>A	ExAC,TOPMed,gnomAD
rs755680499	p.Val1386Leu	missense variant	-	NC_000002.12:g.120990070G>T	ExAC,gnomAD
rs763628436	p.Arg1387Cys	missense variant	-	NC_000002.12:g.120990073C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1387LeuPheSerTerUnkUnkUnk	frameshift	-	NC_000002.12:g.120990074G>-	NCI-TCGA
rs753561308	p.Arg1387His	missense variant	-	NC_000002.12:g.120990074G>A	ExAC,TOPMed,gnomAD
COSM716016	p.Arg1387Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990073C>G	NCI-TCGA Cosmic
rs1306381397	p.Ala1388Thr	missense variant	-	NC_000002.12:g.120990076G>A	gnomAD
COSM1006000	p.Ala1388Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990077C>T	NCI-TCGA Cosmic
rs917282260	p.Gln1390Pro	missense variant	-	NC_000002.12:g.120990083A>C	gnomAD
rs1203090066	p.Gln1390Ter	stop gained	-	NC_000002.12:g.120990082C>T	gnomAD
rs1489027653	p.Gln1391His	missense variant	-	NC_000002.12:g.120990087G>C	TOPMed,gnomAD
rs778605920	p.Leu1393Arg	missense variant	-	NC_000002.12:g.120990092T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1394Ser	missense variant	-	NC_000002.12:g.120990094G>T	NCI-TCGA
rs745645553	p.Tyr1395Phe	missense variant	-	NC_000002.12:g.120990098A>T	ExAC
rs751479828	p.Ala1396Ser	missense variant	-	NC_000002.12:g.120990100G>T	ExAC,TOPMed,gnomAD
rs751479828	p.Ala1396Thr	missense variant	-	NC_000002.12:g.120990100G>A	ExAC,TOPMed,gnomAD
rs751479828	p.Ala1396Pro	missense variant	-	NC_000002.12:g.120990100G>C	ExAC,TOPMed,gnomAD
rs768730033	p.Ala1398Thr	missense variant	-	NC_000002.12:g.120990106G>A	ExAC,gnomAD
rs143914758	p.Gly1400Cys	missense variant	-	NC_000002.12:g.120990112G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs577126364	p.Met1403Val	missense variant	-	NC_000002.12:g.120990121A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs773494590	p.Ala1404Asp	missense variant	-	NC_000002.12:g.120990125C>A	ExAC,TOPMed,gnomAD
rs773494590	p.Ala1404Val	missense variant	-	NC_000002.12:g.120990125C>T	ExAC,TOPMed,gnomAD
rs1302372905	p.Ala1405Val	missense variant	-	NC_000002.12:g.120990128C>T	gnomAD
rs763363340	p.Met1406Val	missense variant	-	NC_000002.12:g.120990130A>G	ExAC,gnomAD
rs1401505369	p.Met1406Ile	missense variant	-	NC_000002.12:g.120990132G>T	gnomAD
rs753578976	p.Pro1407Leu	missense variant	-	NC_000002.12:g.120990134C>T	TOPMed,gnomAD
rs1278408896	p.Pro1407Ser	missense variant	-	NC_000002.12:g.120990133C>T	gnomAD
rs775002368	p.Ser1408Cys	missense variant	-	NC_000002.12:g.120990137C>G	ExAC,gnomAD
rs1222396896	p.Ser1409Ile	missense variant	-	NC_000002.12:g.120990140G>T	gnomAD
rs1322915480	p.Ser1409Cys	missense variant	-	NC_000002.12:g.120990139A>T	gnomAD
NCI-TCGA novel	p.Gln1410His	missense variant	-	NC_000002.12:g.120990144G>T	NCI-TCGA
rs1489463100	p.Glu1411Lys	missense variant	-	NC_000002.12:g.120990145G>A	gnomAD
rs763722028	p.Thr1412Arg	missense variant	-	NC_000002.12:g.120990149C>G	ExAC,TOPMed,gnomAD
rs763722028	p.Thr1412Ile	missense variant	-	NC_000002.12:g.120990149C>T	ExAC,TOPMed,gnomAD
rs760060026	p.Thr1412Ala	missense variant	-	NC_000002.12:g.120990148A>G	ExAC,TOPMed
NCI-TCGA novel	p.Ala1413Pro	missense variant	-	NC_000002.12:g.120990151G>C	NCI-TCGA
rs1241706432	p.Ala1413Ser	missense variant	-	NC_000002.12:g.120990151G>T	gnomAD
rs753359287	p.Glu1414Gln	missense variant	-	NC_000002.12:g.120990154G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1419Arg	missense variant	-	NC_000002.12:g.120990169G>A	NCI-TCGA
rs764921374	p.Gly1419Arg	missense variant	-	NC_000002.12:g.120990169G>C	ExAC,gnomAD
rs370136073	p.Ala1420Glu	missense variant	-	NC_000002.12:g.120990173C>A	ESP,ExAC,TOPMed,gnomAD
rs1273308746	p.Ala1420Thr	missense variant	-	NC_000002.12:g.120990172G>A	TOPMed
rs370136073	p.Ala1420Gly	missense variant	-	NC_000002.12:g.120990173C>G	ESP,ExAC,TOPMed,gnomAD
rs370136073	p.Ala1420Val	missense variant	-	NC_000002.12:g.120990173C>T	ESP,ExAC,TOPMed,gnomAD
rs779760941	p.Met1421Ile	missense variant	-	NC_000002.12:g.120990177G>T	ExAC,gnomAD
rs746964199	p.Gly1422Ala	missense variant	-	NC_000002.12:g.120990179G>C	ExAC,gnomAD
rs781286934	p.Asn1423Ser	missense variant	-	NC_000002.12:g.120990182A>G	ExAC,gnomAD
NCI-TCGA novel	p.Met1424Thr	missense variant	-	NC_000002.12:g.120990185T>C	NCI-TCGA
rs748233304	p.Gly1425Ala	missense variant	-	NC_000002.12:g.120990188G>C	ExAC,gnomAD
rs748233304	p.Gly1425Glu	missense variant	-	NC_000002.12:g.120990188G>A	ExAC,gnomAD
COSM4921050	p.Gly1425Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990188G>T	NCI-TCGA Cosmic
rs1285515448	p.Ser1426Thr	missense variant	-	NC_000002.12:g.120990190T>A	gnomAD
rs1215590067	p.Ser1426Leu	missense variant	-	NC_000002.12:g.120990191C>T	TOPMed
rs773478679	p.Pro1428Leu	missense variant	-	NC_000002.12:g.120990197C>T	ExAC,gnomAD
rs773478679	p.Pro1428Arg	missense variant	-	NC_000002.12:g.120990197C>G	ExAC,gnomAD
rs1273342744	p.Pro1429Ser	missense variant	-	NC_000002.12:g.120990199C>T	TOPMed
rs1435807664	p.Pro1429Leu	missense variant	-	NC_000002.12:g.120990200C>T	TOPMed
rs749402521	p.Pro1431Leu	missense variant	-	NC_000002.12:g.120990206C>T	ExAC,TOPMed,gnomAD
rs1217724427	p.Pro1432Ser	missense variant	-	NC_000002.12:g.120990208C>T	gnomAD
COSM441060	p.Pro1433Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990212C>T	NCI-TCGA Cosmic
rs1021233659	p.Gln1434Lys	missense variant	-	NC_000002.12:g.120990214C>A	TOPMed
rs140565050	p.Asp1435Glu	missense variant	-	NC_000002.12:g.120990219C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376388820	p.Ala1436Thr	missense variant	-	NC_000002.12:g.120990220G>A	ESP,ExAC,TOPMed,gnomAD
rs149163880	p.Gly1437Ser	missense variant	-	NC_000002.12:g.120990223G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750097545	p.Gly1437Asp	missense variant	-	NC_000002.12:g.120990224G>A	ExAC,gnomAD
rs149163880	p.Gly1437Cys	missense variant	-	NC_000002.12:g.120990223G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1194965005	p.Gly1438Arg	missense variant	-	NC_000002.12:g.120990226G>A	TOPMed
rs1383258480	p.Gly1438Glu	missense variant	-	NC_000002.12:g.120990227G>A	gnomAD
rs560714886	p.Ala1439Thr	missense variant	-	NC_000002.12:g.120990229G>A	1000Genomes,ExAC,gnomAD
rs267598856	p.Pro1440Arg	missense variant	-	NC_000002.12:g.120990233C>G	1000Genomes,ExAC
rs267598856	p.Pro1440Leu	missense variant	-	NC_000002.12:g.120990233C>T	1000Genomes,ExAC
rs1383968961	p.His1442Arg	missense variant	-	NC_000002.12:g.120990239A>G	gnomAD
rs754953902	p.Ser1443Asn	missense variant	-	NC_000002.12:g.120990242G>A	ExAC,gnomAD
rs146467786	p.Met1444Ile	missense variant	-	NC_000002.12:g.120990246G>A	UniProt,dbSNP
VAR_032977	p.Met1444Ile	missense variant	-	NC_000002.12:g.120990246G>A	UniProt
rs146467786	p.Met1444Ile	missense variant	-	NC_000002.12:g.120990246G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAR_075216	p.Met1444_Leu1445delinsIlePhe	deletion_insertion	Culler-Jones syndrome (CJS) [MIM:615849]	-	UniProt
rs146207623	p.Leu1445Phe	missense variant	-	NC_000002.12:g.120990247C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199512645	p.Tyr1446Cys	missense variant	-	NC_000002.12:g.120990251A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Tyr1447Asp	missense variant	-	NC_000002.12:g.120990253T>G	NCI-TCGA
NCI-TCGA novel	p.Tyr1447Cys	missense variant	-	NC_000002.12:g.120990254A>G	NCI-TCGA
rs749545197	p.Tyr1447His	missense variant	-	NC_000002.12:g.120990253T>C	ExAC,TOPMed,gnomAD
rs1279405733	p.Tyr1448Cys	missense variant	-	NC_000002.12:g.120990257A>G	gnomAD
rs746213496	p.Gly1449Ser	missense variant	-	NC_000002.12:g.120990259G>A	ExAC,TOPMed,gnomAD
rs746213496	p.Gly1449Cys	missense variant	-	NC_000002.12:g.120990259G>T	ExAC,TOPMed,gnomAD
rs1444731306	p.Gly1449Ala	missense variant	-	NC_000002.12:g.120990260G>C	TOPMed
COSM3565929	p.Gly1449Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990260G>A	NCI-TCGA Cosmic
rs201523549	p.Gln1450His	missense variant	-	NC_000002.12:g.120990264G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs761024643	p.Ile1451Phe	missense variant	-	NC_000002.12:g.120990265A>T	ExAC,gnomAD
NCI-TCGA novel	p.Met1453Val	missense variant	-	NC_000002.12:g.120990271A>G	NCI-TCGA
COSM4930271	p.Met1453Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990271A>T	NCI-TCGA Cosmic
rs772550425	p.Glu1455Lys	missense variant	-	NC_000002.12:g.120990277G>A	ExAC,gnomAD
COSM1399120	p.Asp1457Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990284A>G	NCI-TCGA Cosmic
rs760074094	p.Gly1459Ser	missense variant	-	NC_000002.12:g.120990289G>A	ExAC,gnomAD
rs1036625298	p.Leu1463Ile	missense variant	-	NC_000002.12:g.120990301C>A	TOPMed,gnomAD
rs767232856	p.Gly1464Ala	missense variant	-	NC_000002.12:g.120990305G>C	ExAC,gnomAD
rs200274772	p.Gly1464Arg	missense variant	-	NC_000002.12:g.120990304G>A	ESP,TOPMed,gnomAD
rs150348343	p.Ser1465Asn	missense variant	-	NC_000002.12:g.120990308G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1465Ile	missense variant	-	NC_000002.12:g.120990308G>T	NCI-TCGA
rs755954458	p.Cys1466Tyr	missense variant	-	NC_000002.12:g.120990311G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val1468Gly	missense variant	-	NC_000002.12:g.120990317T>G	NCI-TCGA
rs1334370693	p.Val1468Ala	missense variant	-	NC_000002.12:g.120990317T>C	gnomAD
rs1347544585	p.Met1469Leu	missense variant	-	NC_000002.12:g.120990319A>T	gnomAD
rs201680468	p.Arg1470Gln	missense variant	-	NC_000002.12:g.120990323G>A	ExAC,TOPMed,gnomAD
rs867533231	p.Arg1470Trp	missense variant	-	NC_000002.12:g.120990322C>T	gnomAD
rs757602988	p.Ser1471Pro	missense variant	-	NC_000002.12:g.120990325T>C	ExAC,gnomAD
rs867501490	p.Ser1471Phe	missense variant	-	NC_000002.12:g.120990326C>T	TOPMed,gnomAD
rs867501490	p.Ser1471Cys	missense variant	-	NC_000002.12:g.120990326C>G	TOPMed,gnomAD
rs779265139	p.Pro1474Leu	missense variant	-	NC_000002.12:g.120990335C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala1478Val	missense variant	-	NC_000002.12:g.120990347C>T	NCI-TCGA
rs1281305560	p.Cys1479Tyr	missense variant	-	NC_000002.12:g.120990350G>A	gnomAD
rs1249684727	p.Asp1481Asn	missense variant	-	NC_000002.12:g.120990355G>A	gnomAD
rs201051196	p.Asp1481Glu	missense variant	-	NC_000002.12:g.120990357C>G	ESP,ExAC,TOPMed,gnomAD
COSM70909	p.Ser1482Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990359G>T	NCI-TCGA Cosmic
rs1348855997	p.Gln1484Arg	missense variant	-	NC_000002.12:g.120990365A>G	TOPMed
rs780228031	p.Gln1484His	missense variant	-	NC_000002.12:g.120990366G>C	ExAC,TOPMed,gnomAD
rs145958673	p.Pro1485Ala	missense variant	-	NC_000002.12:g.120990367C>G	ESP,ExAC,TOPMed,gnomAD
rs145958673	p.Pro1485Thr	missense variant	-	NC_000002.12:g.120990367C>A	ESP,ExAC,TOPMed,gnomAD
COSM3894654	p.Pro1485Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990368C>T	NCI-TCGA Cosmic
rs769010893	p.Gln1486Leu	missense variant	-	NC_000002.12:g.120990371A>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro1487His	missense variant	-	NC_000002.12:g.120990374C>A	NCI-TCGA
rs146403211	p.Leu1488Phe	missense variant	-	NC_000002.12:g.120990378G>T	ESP,ExAC,TOPMed,gnomAD
rs773996121	p.Pro1489Ser	missense variant	-	NC_000002.12:g.120990379C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro1491Ala	missense variant	-	NC_000002.12:g.120990385C>G	NCI-TCGA
rs1304191660	p.Pro1491Arg	missense variant	-	NC_000002.12:g.120990386C>G	gnomAD
rs1388900287	p.Pro1491Ser	missense variant	-	NC_000002.12:g.120990385C>T	gnomAD
rs1327135240	p.Val1500Met	missense variant	-	NC_000002.12:g.120990412G>A	TOPMed,gnomAD
rs760708035	p.Ser1502Pro	missense variant	-	NC_000002.12:g.120990418T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser1502Phe	missense variant	-	NC_000002.12:g.120990419C>T	NCI-TCGA
rs1039469636	p.Leu1504Pro	missense variant	-	NC_000002.12:g.120990425T>C	TOPMed
rs763917549	p.Leu1504Phe	missense variant	-	NC_000002.12:g.120990424C>T	ExAC,gnomAD
rs754008467	p.Glu1506Gly	missense variant	-	NC_000002.12:g.120990431A>G	ExAC,TOPMed,gnomAD
rs757408573	p.Ala1507Gly	missense variant	-	NC_000002.12:g.120990434C>G	ExAC,gnomAD
rs1187651972	p.Ala1507Ser	missense variant	-	NC_000002.12:g.120990433G>T	TOPMed
rs757408573	p.Ala1507Val	missense variant	-	NC_000002.12:g.120990434C>T	ExAC,gnomAD
COSM4927769	p.Ala1507Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990434C>A	NCI-TCGA Cosmic
rs1490117894	p.Pro1508Thr	missense variant	-	NC_000002.12:g.120990436C>A	gnomAD
COSM3565930	p.Pro1508Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990436C>T	NCI-TCGA Cosmic
rs900924402	p.Gln1509Pro	missense variant	-	NC_000002.12:g.120990440A>C	gnomAD
rs900924402	p.Gln1509Arg	missense variant	-	NC_000002.12:g.120990440A>G	gnomAD
rs1170816516	p.Gln1509Lys	missense variant	-	NC_000002.12:g.120990439C>A	TOPMed,gnomAD
rs758647029	p.Gln1509His	missense variant	-	NC_000002.12:g.120990441G>T	ExAC,TOPMed,gnomAD
rs780501158	p.Ile1510Thr	missense variant	-	NC_000002.12:g.120990443T>C	ExAC,gnomAD
rs1261322311	p.Phe1512Leu	missense variant	-	NC_000002.12:g.120990448T>C	TOPMed
rs755563767	p.Asp1513Asn	missense variant	-	NC_000002.12:g.120990451G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1513HisPheSerTerUnk	frameshift	-	NC_000002.12:g.120990450_120990454CGATG>-	NCI-TCGA
rs755563767	p.Asp1513His	missense variant	-	NC_000002.12:g.120990451G>C	ExAC,TOPMed,gnomAD
rs781541846	p.Ile1515Val	missense variant	-	NC_000002.12:g.120990457A>G	ExAC,gnomAD
rs1365370523	p.Met1516Val	missense variant	-	NC_000002.12:g.120990460A>G	TOPMed,gnomAD
rs147896208	p.Met1516Thr	missense variant	-	NC_000002.12:g.120990461T>C	ESP,ExAC,TOPMed,gnomAD
rs147896208	p.Met1516Lys	missense variant	-	NC_000002.12:g.120990461T>A	ESP,ExAC,TOPMed,gnomAD
rs745550412	p.Gly1519Asp	missense variant	-	NC_000002.12:g.120990470G>A	ExAC,gnomAD
rs565831399	p.Gly1519Ser	missense variant	-	NC_000002.12:g.120990469G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs114814747	p.Asp1520His	missense variant	Holoprosencephaly 9 (hpe9)	NC_000002.12:g.120990472G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs114814747	p.Asp1520Asn	missense variant	Holoprosencephaly 9 (hpe9)	NC_000002.12:g.120990472G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs114814747	p.Asp1520Asn	missense variant	Culler-Jones syndrome (CJS)	NC_000002.12:g.120990472G>A	UniProt,dbSNP
VAR_075217	p.Asp1520Asn	missense variant	Culler-Jones syndrome (CJS)	NC_000002.12:g.120990472G>A	UniProt
rs148902971	p.Asp1520Glu	missense variant	-	NC_000002.12:g.120990474T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199843410	p.His1521Tyr	missense variant	-	NC_000002.12:g.120990475C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs199843410	p.His1521Asp	missense variant	-	NC_000002.12:g.120990475C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs758740791	p.His1521Gln	missense variant	-	NC_000002.12:g.120990477C>G	ExAC,gnomAD
rs766495260	p.Ser1522Trp	missense variant	-	NC_000002.12:g.120990479C>G	ExAC,TOPMed,gnomAD
rs766495260	p.Ser1522Leu	missense variant	-	NC_000002.12:g.120990479C>T	ExAC,TOPMed,gnomAD
rs1191962515	p.Phe1525Leu	missense variant	-	NC_000002.12:g.120990487T>C	TOPMed
rs556121868	p.Ser1526Pro	missense variant	-	NC_000002.12:g.120990490T>C	1000Genomes,ExAC,gnomAD
rs781561335	p.Ser1526Leu	missense variant	-	NC_000002.12:g.120990491C>T	ExAC,TOPMed,gnomAD
rs1259103009	p.Gly1527Ser	missense variant	-	NC_000002.12:g.120990493G>A	gnomAD
rs1206947298	p.Gly1527Asp	missense variant	-	NC_000002.12:g.120990494G>A	TOPMed
COSM3406826	p.Gly1527Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990494G>T	NCI-TCGA Cosmic
rs778433771	p.Ser1530Asn	missense variant	-	NC_000002.12:g.120990503G>A	ExAC,gnomAD
rs202078730	p.Leu1533Pro	missense variant	-	NC_000002.12:g.120990512T>C	TOPMed
rs745361113	p.Leu1534Ile	missense variant	-	NC_000002.12:g.120990514C>A	ExAC,gnomAD
rs1443181771	p.His1535Tyr	missense variant	-	NC_000002.12:g.120990517C>T	gnomAD
rs1212934121	p.Leu1537Val	missense variant	-	NC_000002.12:g.120990523C>G	TOPMed
rs1160889773	p.Ser1538Pro	missense variant	-	NC_000002.12:g.120990526T>C	gnomAD
NCI-TCGA novel	p.Gln1539Ter	stop gained	-	NC_000002.12:g.120990529C>T	NCI-TCGA
rs1346155691	p.Asn1540Thr	missense variant	-	NC_000002.12:g.120990533A>C	gnomAD
rs1453373894	p.Ser1541Pro	missense variant	-	NC_000002.12:g.120990535T>C	gnomAD
rs199887024	p.Ser1541Tyr	missense variant	-	NC_000002.12:g.120990536C>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM3565932	p.Ser1541Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990536C>T	NCI-TCGA Cosmic
rs138987487	p.Arg1543His	missense variant	-	NC_000002.12:g.120990542G>A	UniProt,dbSNP
VAR_075218	p.Arg1543His	missense variant	-	NC_000002.12:g.120990542G>A	UniProt
rs138987487	p.Arg1543His	missense variant	-	NC_000002.12:g.120990542G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141573066	p.Arg1543Cys	missense variant	-	NC_000002.12:g.120990541C>T	ESP,ExAC,TOPMed,gnomAD
rs776523101	p.Thr1546Asn	missense variant	-	NC_000002.12:g.120990551C>A	ExAC,gnomAD
rs776523101	p.Thr1546Ile	missense variant	-	NC_000002.12:g.120990551C>T	ExAC,gnomAD
rs769826605	p.Pro1547His	missense variant	-	NC_000002.12:g.120990554C>A	ExAC,TOPMed,gnomAD
rs769826605	p.Pro1547Arg	missense variant	-	NC_000002.12:g.120990554C>G	ExAC,TOPMed,gnomAD
rs769826605	p.Pro1547Leu	missense variant	-	NC_000002.12:g.120990554C>T	ExAC,TOPMed,gnomAD
rs371304728	p.Arg1548Gln	missense variant	-	NC_000002.12:g.120990557G>A	ESP,ExAC,TOPMed,gnomAD
rs1237907959	p.Arg1548Gly	missense variant	-	NC_000002.12:g.120990556C>G	gnomAD
NCI-TCGA novel	p.Arg1548Ter	stop gained	-	NC_000002.12:g.120990556C>T	NCI-TCGA
NCI-TCGA novel	p.Arg1548GluPheSerTerUnk	frameshift	-	NC_000002.12:g.120990551C>-	NCI-TCGA
rs1462271727	p.Asn1549Tyr	missense variant	-	NC_000002.12:g.120990559A>T	TOPMed,gnomAD
rs759754641	p.Asn1549Lys	missense variant	-	NC_000002.12:g.120990561C>G	ExAC,gnomAD
rs1057518657	p.Thr1552Ala	missense variant	-	NC_000002.12:g.120990568A>G	gnomAD
rs1057518657	p.Thr1552Ser	missense variant	-	NC_000002.12:g.120990568A>T	gnomAD
rs767802807	p.Pro1554Leu	missense variant	-	NC_000002.12:g.120990575C>T	ExAC,TOPMed,gnomAD
rs767802807	p.Pro1554Leu	missense variant	Holoprosencephaly 9 (HPE9)	NC_000002.12:g.120990575C>T	UniProt,dbSNP
VAR_032978	p.Pro1554Leu	missense variant	Holoprosencephaly 9 (HPE9)	NC_000002.12:g.120990575C>T	UniProt
COSM475855	p.Pro1554Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990575C>G	NCI-TCGA Cosmic
COSM1006003	p.Pro1554Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990574C>T	NCI-TCGA Cosmic
rs144372453	p.Ser1555Pro	missense variant	Holoprosencephaly 9 (hpe9)	NC_000002.12:g.120990577T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778241780	p.Pro1557Arg	missense variant	-	NC_000002.12:g.120990584C>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro1557Ser	missense variant	-	NC_000002.12:g.120990583C>T	NCI-TCGA
rs200551009	p.Ala1558Thr	missense variant	-	NC_000002.12:g.120990586G>A	1000Genomes,ExAC,gnomAD
rs1175866571	p.Met1563Thr	missense variant	-	NC_000002.12:g.120990602T>C	gnomAD
rs1468856100	p.Val1565Gly	missense variant	-	NC_000002.12:g.120990608T>G	TOPMed
rs768317485	p.Gly1566Arg	missense variant	-	NC_000002.12:g.120990610G>A	ExAC,gnomAD
COSM3565934	p.Gly1566Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990611G>A	NCI-TCGA Cosmic
rs1373825712	p.Thr1573Pro	missense variant	-	NC_000002.12:g.120990631A>C	gnomAD
rs1390539682	p.Thr1573Asn	missense variant	-	NC_000002.12:g.120990632C>A	gnomAD
rs367918973	p.Ala1576Pro	missense variant	-	NC_000002.12:g.120990640G>C	ESP,ExAC,TOPMed,gnomAD
rs367918973	p.Ala1576Thr	missense variant	-	NC_000002.12:g.120990640G>A	ESP,ExAC,TOPMed,gnomAD
rs770936696	p.Glu1577Lys	missense variant	-	NC_000002.12:g.120990643G>A	ExAC,TOPMed,gnomAD
rs770936696	p.Glu1577Gln	missense variant	-	NC_000002.12:g.120990643G>C	ExAC,TOPMed,gnomAD
COSM4876698	p.Glu1577Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990644A>T	NCI-TCGA Cosmic
rs774448389	p.Ser1579Cys	missense variant	-	NC_000002.12:g.120990649A>T	ExAC,TOPMed,gnomAD
rs759715103	p.Ser1579Asn	missense variant	-	NC_000002.12:g.120990650G>A	ExAC,TOPMed,gnomAD
rs1397595368	p.Phe1581Leu	missense variant	-	NC_000002.12:g.120990657C>G	TOPMed
rs767702977	p.Met1584Val	missense variant	-	NC_000002.12:g.120990664A>G	ExAC,TOPMed,gnomAD
COSM3565935	p.Met1584Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990666G>A	NCI-TCGA Cosmic
rs1480924803	p.Met1585Thr	missense variant	-	NC_000002.12:g.120990668T>C	TOPMed,gnomAD
rs1480924803	p.Met1585Lys	missense variant	-	NC_000002.12:g.120990668T>A	TOPMed,gnomAD
rs1174326854	p.Thr1586Ala	missense variant	-	NC_000002.12:g.120990670A>G	TOPMed
rs529216641	p.Ter1587Gln	stop lost	-	NC_000002.12:g.120990673T>C	1000Genomes

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001973	Alcoholic Intoxication, Chronic	disease	PSYGENET
C0002453	Amenorrhea	phenotype	HPO
C0003119	Anophthalmos	disease	BEFREE;HPO
C0003467	Anxiety	disease	BEFREE
C0003469	Anxiety Disorders	group	BEFREE
C0004779	Basal Cell Nevus Syndrome	disease	CTD_human
C0005411	Biliary Atresia	disease	BEFREE
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0005890	Body Height	phenotype	GWASCAT
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007114	Malignant neoplasm of skin	disease	CTD_human
C0007117	Basal cell carcinoma	disease	CTD_human;LHGDN
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE
C0007138	Carcinoma, Transitional Cell	disease	BEFREE
C0008479	Chondrosarcoma	disease	BEFREE
C0008626	Congenital chromosomal disease	group	BEFREE
C0008925	Cleft Palate	disease	BEFREE
C0009375	Colonic Neoplasms	group	BEFREE
C0010417	Cryptorchidism	disease	HPO
C0013336	Dwarfism	disease	BEFREE
C0013338	Pituitary dwarfism	disease	BEFREE
C0013371	Shigella Infections	group	BEFREE
C0014544	Epilepsy	disease	HPO
C0015672	Fatigue	phenotype	HPO
C0016508	Congenital Foot Deformity	group	BEFREE
C0017636	Glioblastoma	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0019693	HIV Infections	group	BEFREE
C0020255	Hydrocephalus	disease	HPO
C0020615	Hypoglycemia	disease	HPO
C0020635	Hypopituitarism	disease	BEFREE;HPO
C0020649	Hypotension	phenotype	HPO
C0021051	Immunologic Deficiency Syndromes	group	BEFREE
C0021359	Infertility	phenotype	HPO
C0023487	Acute Promyelocytic Leukemia	disease	CTD_human
C0023890	Liver Cirrhosis	disease	BEFREE
C0023903	Liver neoplasms	group	BEFREE
C0024419	Waldenstrom Macroglobulinemia	disease	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0024636	Malocclusion	phenotype	HPO
C0025149	Medulloblastoma	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0026010	Microphthalmos	disease	HPO
C0026837	Muscle Rigidity	phenotype	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027819	Neuroblastoma	group	BEFREE
C0029434	Osteogenesis Imperfecta	disease	GENOMICS_ENGLAND
C0029453	Osteopenia	disease	HPO
C0029463	Osteosarcoma	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030567	Parkinson Disease	disease	BEFREE
C0032002	Pituitary Diseases	group	BEFREE
C0033578	Prostatic Neoplasms	group	LHGDN
C0035012	Reiter Syndrome	disease	BEFREE
C0035412	Rhabdomyosarcoma	disease	BEFREE
C0036572	Seizures	phenotype	HPO
C0036875	Disorders of Sex Development	group	GENOMICS_ENGLAND
C0037286	Skin Neoplasms	group	BEFREE;CTD_human
C0078982	Arhinencephaly	disease	CTD_human
C0079541	Holoprosencephaly	disease	BEFREE;CTD_human;GENOMICS_ENGLAND;HPO
C0079731	B-Cell Lymphomas	group	BEFREE
C0085435	Arthritis, Reactive	disease	BEFREE
C0151650	Renal fibrosis	disease	BEFREE
C0152421	Macrotia	disease	HPO
C0152427	Polydactyly	disease	BEFREE;GENOMICS_ENGLAND
C0153690	Secondary malignant neoplasm of bone	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0220697	POLYDACTYLY, POSTAXIAL	disease	BEFREE
C0221765	Chronic schizophrenia	disease	BEFREE
C0238198	Gastrointestinal Stromal Tumors	group	CTD_human
C0238462	Medullary carcinoma of thyroid	disease	BEFREE
C0238790	bone destruction	disease	BEFREE
C0240310	Hypoplasia of the maxilla	disease	HPO
C0241355	Small testicle	phenotype	HPO
C0242343	Panhypopituitarism	disease	BEFREE;HPO
C0265554	Ectrodactyly	disease	BEFREE
C0266225	Persistent cloaca	disease	BEFREE
C0266435	Congenital hypoplasia of penis	disease	HPO
C0271623	Hypogonadotropic hypogonadism	disease	HPO
C0278488	Carcinoma breast stage IV	disease	BEFREE
C0278510	Childhood Medulloblastoma	disease	BEFREE
C0278828	Stage IV Bladder Cancer AJCC v6	disease	BEFREE
C0280141	Acute Undifferentiated Leukemia	disease	BEFREE
C0334634	Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	disease	BEFREE
C0338502	Hypoplasia of the optic nerve	disease	HPO
C0338503	Septo-Optic Dysplasia	disease	BEFREE
C0341038	Jaw Keratocyst	disease	BEFREE
C0342384	Idiopathic hypogonadotropic hypogonadism	disease	GENOMICS_ENGLAND
C0345967	Malignant mesothelioma	disease	BEFREE
C0349588	Short stature	phenotype	HPO
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0392514	Hereditary hemochromatosis	disease	BEFREE
C0424688	Small head	phenotype	HPO
C0424711	Orbital separation diminished	phenotype	HPO
C0431362	Lobar Holoprosencephaly	disease	BEFREE;CTD_human;ORPHANET
C0431363	Alobar Holoprosencephaly	disease	CTD_human;ORPHANET
C0431368	Partial agenesis of corpus callosum	disease	HPO
C0431904	Ulnar polydactyly of fingers	disease	HPO
C0432028	Split foot	disease	BEFREE
C0525045	Mood Disorders	group	BEFREE
C0554972	Large auricle	phenotype	HPO
C0557874	Global developmental delay	disease	HPO
C0585442	Osteosarcoma of bone	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0598935	Tumor Initiation	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0685682	Single naris	disease	HPO
C0686347	Tardive Dyskinesia	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0699893	Skin carcinoma	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0747078	Generalized osteopenia	disease	HPO
C0751617	Semilobar Holoprosencephaly	disease	CTD_human;ORPHANET
C0850666	Infection caused by Helicobacter pylori	disease	BEFREE
C0867389	Chronic graft-versus-host disease	disease	BEFREE
C0948740	Hypoplasia of the pituitary gland	disease	BEFREE;HPO
C0949691	Spondylarthropathies	group	BEFREE
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1134719	Invasive Ductal Breast Carcinoma	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1332986	Childhood Osteosarcoma	disease	BEFREE
C1335302	Pancreatic Ductal Adenocarcinoma	disease	BEFREE
C1368275	Pigmented Basal Cell Carcinoma	disease	CTD_human
C1378511	Undifferentiated leukemia	disease	BEFREE
C1398301	Short palate	disease	HPO
C1398522	Cleft palate and bilateral cleft lip	disease	BEFREE;HPO
C1400201	Pituitary anomalies	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE
C1561643	Chronic Kidney Diseases	group	BEFREE
C1623038	Cirrhosis	disease	BEFREE
C1654637	androgen independent prostate cancer	disease	BEFREE
C1704272	Benign Prostatic Hyperplasia	disease	BEFREE
C1800706	Idiopathic Pulmonary Fibrosis	disease	BEFREE
C1835819	PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)	disease	CLINVAR;CTD_human;UNIPROT
C1836542	Depressed nasal bridge	phenotype	HPO
C1837218	Cleft palate, isolated	disease	BEFREE
C1840235	SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	disease	HPO
C1842876	Depressed nasal ridge	phenotype	HPO
C1845272	Prominent antihelix	phenotype	HPO
C1850189	Large pinnae	phenotype	HPO
C1853242	Midface retrusion	phenotype	HPO
C1856019	Abnormal cortical gyration	phenotype	HPO
C1856892	Facial Dysmorphism with Multiple Malformations	disease	CTD_human
C1857278	Partial or complete agenesis of corpus callosum	disease	HPO
C1858085	Malar flattening	phenotype	HPO
C1859775	Anterior pituitary hypoplasia	phenotype	HPO
C1861028	Esophageal atresia with or without tracheoesophageal fistula	disease	RGD
C1861324	Short philtrum	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C2239176	Liver carcinoma	disease	BEFREE
C2673410	Small midface	phenotype	HPO
C2699510	Split-Hand/Foot Malformation	disease	BEFREE
C2751608	Pituitary Hormone Deficiency, Combined, 1	disease	ORPHANET
C2931019	Split hand foot deformity 1	disease	BEFREE
C2981150	Uranostaphyloschisis	disease	BEFREE
C3179349	Gastrointestinal Stromal Sarcoma	disease	CTD_human
C3279571	Ectopic posterior pituitary	phenotype	HPO
C3489396	Hypogonadism, Isolated Hypogonadotropic	disease	HPO
C3495488	Axenfeld-Rieger syndrome	disease	BEFREE
C3550546	Depressed nasal root/bridge	phenotype	HPO
C3665349	Secondary hypothyroidism	disease	HPO
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C3714760	Drug-induced tardive dyskinesia	disease	BEFREE
C3714796	Isolated somatotropin deficiency	disease	HPO
C3714948	PACHYONYCHIA CONGENITA 3	disease	BEFREE
C3811653	Experimental Organism Basal Cell Carcinoma	phenotype	BEFREE
C4013429	Underdeveloped tragus	phenotype	HPO
C4014479	CULLER-JONES SYNDROME	disease	CLINVAR;CTD_human;ORPHANET;UNIPROT
C4020770	Hypoplasia of the premaxilla	phenotype	HPO
C4020772	Hypoplastic palate	phenotype	HPO
C4020815	Agenesis of incisor	phenotype	HPO
C4020816	Absence of incisors	phenotype	HPO
C4020875	Mental and motor retardation	phenotype	HPO
C4021249	Anterior pituitary agenesis	phenotype	HPO
C4021790	Abnormality of the skeletal system	phenotype	BEFREE
C4022448	Abnormal prolactin level	phenotype	HPO
C4023911	Aplasia/Hypoplasia of the breasts	phenotype	HPO
C4023918	Short hard palate	phenotype	HPO
C4024171	Abnormality of secondary sexual hair	phenotype	HPO
C4025669	Decreased circulating ACTH level	phenotype	HPO
C4072878	Premaxillary retrusion	phenotype	HPO
C4082243	Maxillary retrognathia	phenotype	HPO
C4083290	Missing incisors	phenotype	HPO
C4280320	Hypotrophic midface	phenotype	HPO
C4280321	Decreased projection of midface	phenotype	HPO
C4280495	Concave bridge of nose	phenotype	HPO
C4280613	Angle class 3 malocclusion	phenotype	HPO
C4280614	Angle class 2 malocclusion	disease	HPO
C4280625	Decreased size of eyeball	phenotype	HPO
C4280640	Retrusion of upper jaw bones	phenotype	HPO
C4280641	Hypotrophic maxilla	phenotype	HPO
C4280642	Deficiency of upper jaw bones	phenotype	HPO
C4280643	Decreased projection of maxilla	phenotype	HPO
C4280651	Hypotrophic malar bone	phenotype	HPO
C4280808	Abnormally small eyeball	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003700	DNA-binding transcription factor activity	IDA
GO:0005515	protein binding	IPI
GO:0008134	transcription factor binding	IPI
GO:0008270	zinc ion binding	IDA
GO:0043565	sequence-specific DNA binding	IDA
GO:1990841	promoter-specific chromatin binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP
GO:0001501	skeletal system development	ISS
GO:0001701	in utero embryonic development	IEA
GO:0001822	kidney development	ISS
GO:0002062	chondrocyte differentiation	IEA
GO:0002076	osteoblast development	ISS
GO:0007224	smoothened signaling pathway	IDA
GO:0007389	pattern specification process	ISS
GO:0007411	axon guidance	ISS
GO:0007418	ventral midline development	ISS
GO:0007442	hindgut morphogenesis	ISS
GO:0007507	heart development	ISS
GO:0009952	anterior/posterior pattern specification	IEA
GO:0009954	proximal/distal pattern formation	ISS
GO:0021508	floor plate formation	ISS
GO:0021513	spinal cord dorsal/ventral patterning	ISS
GO:0021517	ventral spinal cord development	ISS
GO:0021696	cerebellar cortex morphogenesis	ISS
GO:0021775	smoothened signaling pathway involved in ventral spinal cord interneuron specification	ISS
GO:0021776	smoothened signaling pathway involved in spinal cord motor neuron cell fate specification	IEA
GO:0021938	smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation	IEA
GO:0021965	spinal cord ventral commissure morphogenesis	ISS
GO:0021983	pituitary gland development	ISS
GO:0030324	lung development	ISS
GO:0030879	mammary gland development	ISS
GO:0030902	hindbrain development	ISS
GO:0031069	hair follicle morphogenesis	IMP
GO:0032331	negative regulation of chondrocyte differentiation	IEA
GO:0033089	positive regulation of T cell differentiation in thymus	ISS
GO:0035295	tube development	ISS
GO:0042475	odontogenesis of dentin-containing tooth	ISS
GO:0042733	embryonic digit morphogenesis	IEA
GO:0043066	negative regulation of apoptotic process	IEA
GO:0045666	positive regulation of neuron differentiation	IEA
GO:0045740	positive regulation of DNA replication	IDA
GO:0045879	negative regulation of smoothened signaling pathway	IEA
GO:0045893	positive regulation of transcription, DNA-templated	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0048566	embryonic digestive tract development	ISS
GO:0048589	developmental growth	ISS
GO:0048666	neuron development	ISS
GO:0048754	branching morphogenesis of an epithelial tube	ISS
GO:0060032	notochord regression	IEA
GO:0060513	prostatic bud formation	IEA
GO:0060603	mammary gland duct morphogenesis	IEA
GO:0060831	smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IEA
GO:0071407	cellular response to organic cyclic compound	IEA
GO:0090103	cochlea morphogenesis	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IDA
GO:0005654	nucleoplasm	IDA
GO:0005654	nucleoplasm	TAS
GO:0005730	nucleolus	IDA
GO:0005829	cytosol	TAS
GO:0005929	cilium	ISS
GO:0005930	axoneme	IEA
GO:0016020	membrane	IEA
GO:0016607	nuclear speck	IEA
GO:0031514	motile cilium	IEA
GO:0097542	ciliary tip	TAS
GO:0097546	ciliary base	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-162582	Signal Transduction	IEA
R-HSA-212436	Generic Transcription Pathway	IEA
R-HSA-5358351	Signaling by Hedgehog	TAS
R-HSA-5358351	Signaling by Hedgehog	IEA
R-HSA-5610783	Degradation of GLI2 by the proteasome	IEA
R-HSA-5610787	Hedgehog 'off' state	IEA
R-HSA-5610787	Hedgehog 'off' state	TAS
R-HSA-5632684	Hedgehog 'on' state	TAS
R-HSA-5635851	GLI proteins bind promoters of Hh responsive genes to promote transcription	TAS
R-HSA-73857	RNA Polymerase II Transcription	IEA
R-HSA-74160	Gene expression (Transcription)	IEA
R-HSA-8878166	Transcriptional regulation by RUNX2	IEA
R-HSA-8941284	RUNX2 regulates chondrocyte maturation	IEA
R-HSA-8941326	RUNX2 regulates bone development	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C016780	11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid	[Cannabinoids results in increased abundance of 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid] which affects the methylation of GLI2 gene	30521419
C088969	1,4-diaminocyclohexane	1,4-diaminocyclohexane analog promotes the reaction [BRD4 protein binds to GLI2 protein]	24973920
C088969	1,4-diaminocyclohexane	1,4-diaminocyclohexane analog results in increased expression of GLI2 mRNA	24973920
C088969	1,4-diaminocyclohexane	BRD4 mutant form inhibits the reaction [1,4-diaminocyclohexane analog results in increased expression of GLI2 mRNA]	24973920
C088969	1,4-diaminocyclohexane	(+)-JQ1 compound inhibits the reaction [1,4-diaminocyclohexane analog promotes the reaction [BRD4 protein binds to GLI2 protein]]	24973920
C088969	1,4-diaminocyclohexane	(+)-JQ1 compound inhibits the reaction [1,4-diaminocyclohexane analog results in increased expression of GLI2 mRNA]	24973920
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of GLI2 mRNA	25510870
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of GLI2 mRNA	19114083
C070055	2,3',4,4',5-pentachlorobiphenyl	2,3',4,4',5-pentachlorobiphenyl affects the expression of GLI2 mRNA	31388691
C081766	2,4,4'-trichlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of GLI2 mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of GLI2 mRNA	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of GLI2 mRNA	25510870
C085911	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one	[HSPA1A protein co-treated with 2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one co-treated with Formaldehyde] results in increased expression of GLI2 protein	30600586
C009407	2,5,2',5'-tetrachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of GLI2 mRNA	25510870
C012796	2-butenal	2-butenal results in decreased expression of GLI2 mRNA	20471460
C028451	3,4,3',4'-tetrachlorobiphenyl	3,4,3',4'-tetrachlorobiphenyl affects the expression of GLI2 mRNA	20638727
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with methylmercuric chloride 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 GLI2 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 decreased expression of GLI2 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 decreased expression of GLI2 mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of GLI2 mRNA	19150397
C496492	abrine	abrine results in decreased expression of GLI2 mRNA	31054353
D000079	Acetaldehyde	Acetaldehyde affects the expression of GLI2 mRNA	22634333
D000082	Acetaminophen	Acetaminophen results in decreased expression of GLI2 mRNA	22230336
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of GLI2 gene	27153756
C029753	aflatoxin B2	aflatoxin B2 affects the methylation of GLI2 intron	30157460
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of GLI2 mRNA	24449571
D001151	Arsenic	Arsenic affects the methylation of GLI2 gene	25304211
D001151	Arsenic	Arsenic results in increased expression of GLI2 mRNA	23942117
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of GLI2 mRNA	23861973; 24685274; 25945059;
D000077237	Arsenic Trioxide	GLI2 protein results in decreased susceptibility to Arsenic Trioxide	20707922
D000077237	Arsenic Trioxide	GLI2 protein results in increased susceptibility to Arsenic Trioxide	21183792
D000077237	Arsenic Trioxide	Arsenic Trioxide binds to and results in decreased activity of GLI2 protein	21183792
D001280	Atrazine	Atrazine results in decreased expression of GLI2 mRNA	25929836
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of GLI2 intron	30157460
C026487	benzo(e)pyrene	benzo(e)pyrene affects the methylation of GLI2 intron	30157460
C026487	benzo(e)pyrene	benzo(e)pyrene results in decreased methylation of GLI2 polyA tail	30157460
C006780	bisphenol A	bisphenol A affects the methylation of GLI2 promoter	27334623
C006780	bisphenol A	bisphenol A results in decreased methylation of GLI2 promoter	27312807
C006780	bisphenol A	bisphenol A affects the expression of GLI2 mRNA	25181051
C006780	bisphenol A	bisphenol A results in decreased expression of GLI2 mRNA	30816183
D001966	Bromine	Bromine results in decreased expression of GLI2 mRNA	21391292
D002186	Cannabinoids	[Cannabinoids results in increased abundance of 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid] which affects the methylation of GLI2 gene	30521419
D002220	Carbamazepine	Carbamazepine affects the expression of GLI2 mRNA	22634333
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of GLI2 mRNA	27590029
D002251	Carbon Tetrachloride	Colforsin inhibits the reaction [Carbon Tetrachloride results in increased expression of GLI2 mRNA]	27590029
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in decreased expression of GLI2 mRNA	30578594
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in decreased expression of GLI2 protein	30578594
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of GLI2 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of GLI2 mRNA	27392435
D003042	Cocaine	Cocaine results in decreased expression of GLI2 mRNA	27899881
D005576	Colforsin	Colforsin inhibits the reaction [Carbon Tetrachloride results in increased expression of GLI2 mRNA]	27590029
D003300	Copper	Copper deficiency results in increased expression of GLI2 mRNA	26033743
C000541	cyclopamine	cyclopamine results in decreased expression of GLI2 mRNA	21703336
C093628	cyproconazole	cyproconazole affects the expression of GLI2 mRNA	22045034
D000077209	Decitabine	Decitabine results in decreased expression of GLI2 mRNA	19363521
D000077209	Decitabine	TP53 protein affects the reaction [Decitabine results in decreased expression of GLI2 mRNA]	19363521
D003907	Dexamethasone	Dexamethasone results in decreased expression of GLI2 mRNA	25047013
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of GLI2 mRNA	25213187; 27079746;
D004041	Dietary Fats	Dietary Fats results in increased expression of GLI2 mRNA	25016146
D019422	Dietary Sucrose	Dietary Sucrose results in increased expression of GLI2 mRNA	26033743
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of GLI2 mRNA	28085963
C058705	diethyl malate	diethyl malate affects the expression of GLI2 mRNA	24814887
C516138	dorsomorphin	[NOG protein co-treated with methylmercuric chloride 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 GLI2 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 decreased expression of GLI2 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 decreased expression of GLI2 mRNA	27188386
D013759	Dronabinol	Dronabinol affects the methylation of GLI2 gene	26044905
C010945	embelin	embelin results in decreased expression of GLI2 protein	24694877
D004726	Endosulfan	Endosulfan results in decreased expression of GLI2 mRNA	29391264
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of GLI2 mRNA	22079256
D004958	Estradiol	Estradiol affects the expression of GLI2 mRNA	14699072; 22574217;
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of GLI2 mRNA	30165855
D000431	Ethanol	Ethanol results in increased expression of GLI2 mRNA	30319688
C061365	flusilazole	flusilazole affects the expression of GLI2 mRNA	22634333
D005557	Formaldehyde	Formaldehyde results in decreased expression of GLI2 mRNA	23416264
D005557	Formaldehyde	[HSPA1A protein co-treated with 2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one co-treated with Formaldehyde] results in increased expression of GLI2 protein	30600586
D005557	Formaldehyde	[HSPA1A protein co-treated with Formaldehyde] results in increased expression of GLI2 protein	30600586
C039281	furan	furan results in increased expression of GLI2 mRNA	27387713
C551027	GANT 61	GANT 61 inhibits the reaction [AGT protein results in increased expression of GLI2 protein]	31181250
C056507	gemcitabine	gemcitabine affects the expression of GLI2 mRNA	20103597
C058504	goralatide	goralatide inhibits the reaction [AGT protein results in increased expression of GLI2 protein]	31181250
C058504	goralatide	goralatide inhibits the reaction [Silicon Dioxide results in increased expression of GLI2 protein]	31181250
C538724	HhAntag691	[GLI1 mRNA co-treated with GLI2 mRNA] affects the reaction [HhAntag691 results in decreased expression of BCL2 protein]	22087285
C538724	HhAntag691	[GLI1 mRNA co-treated with GLI2 mRNA] affects the reaction [HhAntag691 results in decreased expression of PDGFRA protein]	22087285
C538724	HhAntag691	[GLI1 mRNA co-treated with GLI2 mRNA] affects the reaction [HhAntag691 results in increased expression of FAS protein]	22087285
C538724	HhAntag691	[GLI1 mRNA co-treated with GLI2 mRNA] affects the reaction [HhAntag691 results in increased expression of TNFRSF10A protein]	22087285
C538724	HhAntag691	[GLI1 mRNA co-treated with GLI2 mRNA] affects the reaction [HhAntag691 results in increased expression of TNFRSF10B protein]	22087285
C538724	HhAntag691	[GLI1 mRNA co-treated with GLI2 mRNA] affects the susceptibility to HhAntag691	22087285
C538724	HhAntag691	GLI2 protein results in decreased susceptibility to HhAntag691	24973920
C538724	HhAntag691	HhAntag691 inhibits the reaction [AGT protein results in increased expression of GLI2 protein]	31181250
C538724	HhAntag691	HhAntag691 results in decreased expression of GLI2 mRNA	22087285
C538724	HhAntag691	GLI2 gene mutant form promotes the reaction [HhAntag691 inhibits the reaction [SHH protein results in increased expression of PTCH1 mRNA]]	27585885
C538724	HhAntag691	GLI2 gene mutant form results in increased susceptibility to HhAntag691	27585885
C538724	HhAntag691	HhAntag691 inhibits the reaction [SUFU gene mutant form results in increased expression of GLI2 mRNA]	24973920
C538724	HhAntag691	HhAntag691 results in decreased expression of GLI2 mRNA	24973920
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of GLI2 mRNA	27392435
C525593	JK184	JK184 affects the activity of GLI2 protein	19222062
C561695	(+)-JQ1 compound	GLI2 protein results in decreased susceptibility to (+)-JQ1 compound	25807524
C561695	(+)-JQ1 compound	(+)-JQ1 compound inhibits the reaction [GLI2 protein results in increased expression of GLI1 mRNA]	24973920
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of GLI2 mRNA	24796395
C561695	(+)-JQ1 compound	(+)-JQ1 compound inhibits the reaction [BRD4 protein binds to GLI2 promoter]	24973920
C561695	(+)-JQ1 compound	(+)-JQ1 compound inhibits the reaction [SUFU gene mutant form results in increased expression of GLI2 mRNA]	24973920
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of GLI2 mRNA	24973920
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of GLI2 protein	24973920
C561695	(+)-JQ1 compound	(+)-JQ1 compound inhibits the reaction [1,4-diaminocyclohexane analog promotes the reaction [BRD4 protein binds to GLI2 protein]]	24973920
C561695	(+)-JQ1 compound	(+)-JQ1 compound inhibits the reaction [1,4-diaminocyclohexane analog results in increased expression of GLI2 mRNA]	24973920
D008070	Lipopolysaccharides	Lipopolysaccharides results in decreased expression of GLI2 mRNA	12057914
D008701	Methapyrilene	Methapyrilene affects the methylation of GLI2 intron	30157460
D008701	Methapyrilene	Methapyrilene results in decreased methylation of GLI2 polyA tail	30157460
D008713	Methimazole	Methimazole results in increased expression of GLI2 mRNA	17399805
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of GLI2 mRNA	23179753; 26272509;
C004925	methylmercuric chloride	[NOG protein co-treated with methylmercuric chloride 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 GLI2 mRNA	27188386
D008777	Methyltestosterone	Methyltestosterone results in increased expression of GLI2 mRNA	29191790
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of GLI2 mRNA	26924002
C410127	PCB 180	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of GLI2 mRNA	25510870
C494474	perchlorate	perchlorate results in increased expression of GLI2 mRNA	17399805
C011272	perfosfamide	perfosfamide results in decreased expression of GLI2 mRNA	19429390
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of GLI2 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of GLI2 mRNA	22079256
D011374	Progesterone	Progesterone affects the expression of GLI2 mRNA	17251523
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of GLI2 mRNA	24780913; 25825206;
D011441	Propylthiouracil	Propylthiouracil results in increased expression of GLI2 mRNA	17399805
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of GLI2 mRNA	27029645
C468919	SANT-1 compound	SANT-1 compound inhibits the reaction [SUFU gene mutant form results in increased expression of GLI2 mRNA]	24973920
D012643	Selenium	Selenium results in increased expression of GLI2 mRNA	19244175
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of GLI2 mRNA	23806026
D012822	Silicon Dioxide	AGT protein modified form inhibits the reaction [Silicon Dioxide results in increased expression of GLI2 protein]	31181250
D012822	Silicon Dioxide	goralatide inhibits the reaction [Silicon Dioxide results in increased expression of GLI2 protein]	31181250
D012822	Silicon Dioxide	Silicon Dioxide results in increased expression of GLI2 protein	31181250
D012834	Silver	Silver results in decreased expression of GLI2 mRNA	26551752
D012834	Silver	Silver results in increased expression of GLI2 mRNA	26551752
D012834	Silver	Silver results in increased expression of GLI2 mRNA	27131904
C017947	sodium arsenite	sodium arsenite results in decreased expression of GLI2 mRNA	20179202; 25448440;
C017947	sodium arsenite	sodium arsenite results in decreased expression of GLI2 protein	25448440
D018038	Sodium Selenite	Sodium Selenite results in decreased expression of GLI2 mRNA	23274088
D012999	Soman	Soman results in decreased expression of GLI2 mRNA	19281266
C561435	sonidegib	GLI2 protein results in decreased susceptibility to sonidegib	24973920
C561435	sonidegib	sonidegib inhibits the reaction [SUFU gene mutant form results in increased expression of GLI2 mRNA]	24973920
C561435	sonidegib	sonidegib results in decreased expression of GLI2 mRNA	24973920
D000077210	Sunitinib	Sunitinib results in increased expression of GLI2 mRNA	31533062
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of GLI2 mRNA	24058054
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of GLI2 mRNA	16120747; 17586704;
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of GLI2 mRNA	28065790
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased methylation of GLI2 intron	31039056
D014212	Tretinoin	Tretinoin results in decreased expression of GLI2 mRNA	21934132
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of GLI2 mRNA	27188386
C012589	trichostatin A	trichostatin A results in decreased expression of GLI2 mRNA	24935251; 26272509;
D014284	Triiodothyronine	Triiodothyronine results in increased expression of GLI2 mRNA	17403546
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 decreased expression of GLI2 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased expression of GLI2 mRNA	23179753; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased expression of GLI2 mRNA	19101580
D014635	Valproic Acid	Valproic Acid affects the expression of GLI2 mRNA	22045034
D014810	Vitamin E	Vitamin E results in increased expression of GLI2 mRNA	19244175

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0007	Acetylation
KW-0010	Activator
KW-0025	Alternative splicing
KW-0966	Cell projection
KW-0969	Cilium
KW-0963	Cytoplasm
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0370	Holoprosencephaly
KW-1017	Isopeptide bond
KW-0479	Metal-binding
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0677	Repeat
KW-0678	Repressor
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0832	Ubl conjugation
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR043359	GLI-like
IPR036236	Znf_C2H2_sf
IPR013087	Znf_C2H2_type

PROSITE

PROSITE ID	PROSITE Term
PS00028	ZINC_FINGER_C2H2_1
PS50157	ZINC_FINGER_C2H2_2

Pfam

Pfam ID	Pfam Term
PF00096	zf-C2H2

Gene: GLI2

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction