Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 11 73598435 73598435 + Missense_Mutation SNP G G A TCGA-DK-AA6X-01A-12D-A42E-08 TCGA-DK-AA6X-10A-01D-A42H-08 g.chr11:73598435G>A c.125G>A c.(124-126)gGa>gAa p.G42E BLCA 11 73610216 73610216 + Missense_Mutation SNP G G A TCGA-ZF-A9RG-01A-21D-A42E-08 TCGA-ZF-A9RG-10A-01D-A42H-08 g.chr11:73610216G>A c.308G>A c.(307-309)aGa>aAa p.R103K BLCA 11 73610248 73610248 + Missense_Mutation SNP G G C TCGA-UY-A78N-01A-12D-A339-08 TCGA-UY-A78N-10A-01D-A339-08 g.chr11:73610248G>C c.340G>C c.(340-342)Ggg>Cgg p.G114R BLCA 11 73620513 73620513 + Missense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 g.chr11:73620513G>A c.602G>A c.(601-603)cGa>cAa p.R201Q BLCA 11 73625498 73625498 + Missense_Mutation SNP G G C TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 g.chr11:73625498G>C c.768G>C c.(766-768)ttG>ttC p.L256F BLCA 11 73627688 73627688 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr11:73627688G>A c.918G>A c.(916-918)ctG>ctA p.L306L BRCA 11 73611344 73611344 + Silent SNP G G A TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 g.chr11:73611344G>A c.411G>A c.(409-411)gtG>gtA p.V137V BRCA 11 73627677 73627680 + Frame_Shift_Del DEL ATTT ATTT - TCGA-E2-A1LH-01A-11D-A14G-09 TCGA-E2-A1LH-11A-22D-A14G-09 g.chr11:73627677_73627680delATTT c.907_910delATTT c.(907-912)atttatfs p.IY303fs BRCA 11 73627700 73627700 + Silent SNP T T C TCGA-A2-A0D2-01A-21W-A050-09 TCGA-A2-A0D2-10A-01W-A055-09 g.chr11:73627700T>C c.930T>C c.(928-930)agT>agC p.S310S CESC 11 73611423 73611423 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr11:73611423G>T c.490G>T c.(490-492)Gaa>Taa p.E164* CESC 11 73627672 73627672 + Missense_Mutation SNP G G A TCGA-FU-A40J-01A-11D-A243-09 TCGA-FU-A40J-10A-01D-A243-09 g.chr11:73627672G>A c.902G>A c.(901-903)gGa>gAa p.G301E COAD 11 73598466 73598466 + Silent SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr11:73598466A>C c.156A>C c.(154-156)acA>acC p.T52T COAD 11 73610247 73610247 + Silent SNP C C T TCGA-AZ-6606-01A-11D-1835-10 TCGA-AZ-6606-11A-01D-1835-10 g.chr11:73610247C>T c.339C>T c.(337-339)gaC>gaT p.D113D COAD 11 73611329 73611329 + Silent SNP A A G TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr11:73611329A>G c.396A>G c.(394-396)ggA>ggG p.G132G COAD 11 73611393 73611393 + Missense_Mutation SNP A A G TCGA-DM-A282-01A-12D-A16V-10 TCGA-DM-A282-10A-01D-A16V-10 g.chr11:73611393A>G c.460A>G c.(460-462)Atg>Gtg p.M154V COAD 11 73611395 73611395 + Missense_Mutation SNP G G A TCGA-AZ-6603-01A-11D-1835-10 TCGA-AZ-6603-11A-02D-1835-10 g.chr11:73611395G>A c.462G>A c.(460-462)atG>atA p.M154I COAD 11 73611395 73611395 + Missense_Mutation SNP G G A TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr11:73611395G>A c.462G>A c.(460-462)atG>atA p.M154I COAD 11 73620530 73620530 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr11:73620530C>T c.619C>T c.(619-621)Cgc>Tgc p.R207C COAD 11 73627662 73627662 + Missense_Mutation SNP A A G TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr11:73627662A>G c.892A>G c.(892-894)Act>Gct p.T298A COADREAD 11 73598466 73598466 + Silent SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr11:73598466A>C c.156A>C c.(154-156)acA>acC p.T52T COADREAD 11 73610216 73610218 + In_Frame_Del DEL GAG GAG - TCGA-AG-A020-01A-21W-A096-10 TCGA-AG-A020-11A-11W-A096-10 g.chr11:73610216_73610218delGAG c.308_310delGAG c.(307-312)agagga>aga p.G105del COADREAD 11 73610247 73610247 + Silent SNP C C T TCGA-AZ-6606-01A-11D-1835-10 TCGA-AZ-6606-11A-01D-1835-10 g.chr11:73610247C>T c.339C>T c.(337-339)gaC>gaT p.D113D COADREAD 11 73611329 73611329 + Silent SNP A A G TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr11:73611329A>G c.396A>G c.(394-396)ggA>ggG p.G132G COADREAD 11 73611393 73611393 + Missense_Mutation SNP A A G TCGA-DM-A282-01A-12D-A16V-10 TCGA-DM-A282-10A-01D-A16V-10 g.chr11:73611393A>G c.460A>G c.(460-462)Atg>Gtg p.M154V COADREAD 11 73611395 73611395 + Missense_Mutation SNP G G A TCGA-AZ-6603-01A-11D-1835-10 TCGA-AZ-6603-11A-02D-1835-10 g.chr11:73611395G>A c.462G>A c.(460-462)atG>atA p.M154I COADREAD 11 73611395 73611395 + Missense_Mutation SNP G G A TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr11:73611395G>A c.462G>A c.(460-462)atG>atA p.M154I COADREAD 11 73620530 73620530 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr11:73620530C>T c.619C>T c.(619-621)Cgc>Tgc p.R207C COADREAD 11 73627662 73627662 + Missense_Mutation SNP A A G TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr11:73627662A>G c.892A>G c.(892-894)Act>Gct p.T298A ESCA 11 73602157 73602157 + Splice_Site SNP A A G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 g.chr11:73602157A>G c.193A>G c.(193-195)Aaa>Gaa p.K65E ESCA 11 73602202 73602202 + Frame_Shift_Del DEL T T - TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 g.chr11:73602202delT c.238delT c.(238-240)tttfs p.F80fs ESCA 11 73625472 73625472 + Missense_Mutation SNP G G A TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 g.chr11:73625472G>A c.742G>A c.(742-744)Gga>Aga p.G248R GBM 11 73627614 73627614 + Missense_Mutation SNP G G A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 g.chr11:73627614G>A c.844G>A c.(844-846)Gct>Act p.A282T GBMLGG 11 73610227 73610227 + Missense_Mutation SNP G G T TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 g.chr11:73610227G>T c.319G>T c.(319-321)Ggt>Tgt p.G107C GBMLGG 11 73611337 73611337 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:73611337T>C c.404T>C c.(403-405)tTt>tCt p.F135S GBMLGG 11 73627614 73627614 + Missense_Mutation SNP G G A TCGA-06-0648-01A-01W-0323-08 TCGA-06-0648-10A-01W-0323-08 g.chr11:73627614G>A c.844G>A c.(844-846)Gct>Act p.A282T HNSC 11 73620473 73620473 + Missense_Mutation SNP G G A TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 g.chr11:73620473G>A c.562G>A c.(562-564)Ggg>Agg p.G188R HNSC 11 73620528 73620528 + Missense_Mutation SNP G G A TCGA-BA-A6DA-01A-31D-A31L-08 TCGA-BA-A6DA-10A-01D-A31J-08 g.chr11:73620528G>A c.617G>A c.(616-618)gGg>gAg p.G206E KIPAN 11 73602239 73602239 + Missense_Mutation SNP C C T TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr11:73602239C>T c.275C>T c.(274-276)aCa>aTa p.T92I KIPAN 11 73610254 73610254 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr11:73610254A>G c.346A>G c.(346-348)Atg>Gtg p.M116V KIPAN 11 73620605 73620605 + Missense_Mutation SNP T T A TCGA-BP-4768-01A-01D-1366-10 TCGA-BP-4768-11A-01D-1366-10 g.chr11:73620605T>A c.694T>A c.(694-696)Tcc>Acc p.S232T KIPAN 11 73638349 73638349 + Missense_Mutation SNP A A T TCGA-BP-4989-01A-01D-1462-08 TCGA-BP-4989-11A-01D-1462-08 g.chr11:73638349A>T c.1121A>T c.(1120-1122)cAg>cTg p.Q374L KIRC 11 73610254 73610254 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr11:73610254A>G c.346A>G c.(346-348)Atg>Gtg p.M116V KIRC 11 73620605 73620605 + Missense_Mutation SNP T T A TCGA-BP-4768-01A-01D-1366-10 TCGA-BP-4768-11A-01D-1366-10 g.chr11:73620605T>A c.694T>A c.(694-696)Tcc>Acc p.S232T KIRC 11 73638349 73638349 + Missense_Mutation SNP A A T TCGA-BP-4989-01A-01D-1462-08 TCGA-BP-4989-11A-01D-1462-08 g.chr11:73638349A>T c.1121A>T c.(1120-1122)cAg>cTg p.Q374L KIRP 11 73602239 73602239 + Missense_Mutation SNP C C T TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr11:73602239C>T c.275C>T c.(274-276)aCa>aTa p.T92I LGG 11 73610227 73610227 + Missense_Mutation SNP G G T TCGA-DU-8166-01A-11D-2253-08 TCGA-DU-8166-10A-01D-2253-08 g.chr11:73610227G>T c.319G>T c.(319-321)Ggt>Tgt p.G107C LGG 11 73611337 73611337 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:73611337T>C c.404T>C c.(403-405)tTt>tCt p.F135S LUAD 11 73589859 73589859 + Missense_Mutation SNP C C T TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr11:73589859C>T c.83C>T c.(82-84)cCc>cTc p.P28L LUAD 11 73620586 73620586 + Silent SNP G G T TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr11:73620586G>T c.675G>T c.(673-675)gcG>gcT p.A225A LUAD 11 73625495 73625495 + Silent SNP C C G TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 g.chr11:73625495C>G c.765C>G c.(763-765)ctC>ctG p.L255L LUSC 11 73620469 73620469 + Missense_Mutation SNP T T A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 g.chr11:73620469T>A c.558T>A c.(556-558)gaT>gaA p.D186E LUSC 11 73638345 73638345 + Missense_Mutation SNP A A C TCGA-66-2793-01A-01D-1267-08 TCGA-66-2793-11A-01D-1267-08 g.chr11:73638345A>C c.1117A>C c.(1117-1119)Aag>Cag p.K373Q OV 11 73611394 73611394 + Missense_Mutation SNP T T A TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 g.chr11:73611394T>A c.461T>A c.(460-462)aTg>aAg p.M154K PAAD 11 73630036 73630036 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr11:73630036T>C c.977T>C c.(976-978)cTa>cCa p.L326P READ 11 73610216 73610218 + In_Frame_Del DEL GAG GAG - TCGA-AG-A020-01A-21W-A096-10 TCGA-AG-A020-11A-11W-A096-10 g.chr11:73610216_73610218delGAG c.308_310delGAG c.(307-312)agagga>aga p.G105del SKCM 11 73602227 73602227 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr11:73602227C>T c.263C>T c.(262-264)tCc>tTc p.S88F SKCM 11 73620448 73620448 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 g.chr11:73620448C>T c.537C>T c.(535-537)atC>atT p.I179I SKCM 11 73620606 73620606 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr11:73620606C>T c.695C>T c.(694-696)tCc>tTc p.S232F SKCM 11 73625470 73625470 + Missense_Mutation SNP T T C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 g.chr11:73625470T>C c.740T>C c.(739-741)gTt>gCt p.V247A SKCM 11 73627595 73627595 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr11:73627595C>T c.825C>T c.(823-825)ttC>ttT p.F275F SKCM 11 73638353 73638353 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr11:73638353C>T c.1125C>T c.(1123-1125)atC>atT p.I375I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 11 73620513 73620513 single base substitution G A missense_variant R184Q 551G>A BLCA-US 11 73620513 73620513 single base substitution G A missense_variant R201Q 602G>A BLCA-US 11 73620513 73620513 single base substitution G A missense_variant R202Q 605G>A BLCA-US 11 73620513 73620513 single base substitution G A missense_variant R41Q 122G>A BLCA-US 11 73620513 73620513 single base substitution G A missense_variant R65Q 194G>A BLCA-US 11 73620513 73620513 single base substitution G A missense_variant R86Q 257G>A BLCA-US 11 73625498 73625498 single base substitution G C downstream_gene_variant BLCA-US 11 73625498 73625498 single base substitution G C intron_variant BLCA-US 11 73625498 73625498 single base substitution G C missense_variant L120F 360G>C BLCA-US 11 73625498 73625498 single base substitution G C missense_variant L141F 423G>C BLCA-US 11 73625498 73625498 single base substitution G C missense_variant L239F 717G>C BLCA-US 11 73625498 73625498 single base substitution G C missense_variant L256F 768G>C BLCA-US 11 73625498 73625498 single base substitution G C missense_variant L257F 771G>C BLCA-US 11 73627688 73627688 single base substitution G A downstream_gene_variant BLCA-US 11 73627688 73627688 single base substitution G A missense_variant G116R 346G>A BLCA-US 11 73627688 73627688 single base substitution G A synonymous_variant L191L 573G>A BLCA-US 11 73627688 73627688 single base substitution G A synonymous_variant L289L 867G>A BLCA-US 11 73627688 73627688 single base substitution G A synonymous_variant L306L 918G>A BLCA-US 11 73627688 73627688 single base substitution G A synonymous_variant L307L 921G>A BRCA-EU 11 73583141 73583141 single base substitution G T upstream_gene_variant BRCA-EU 11 73583594 73583594 single base substitution G A upstream_gene_variant BRCA-EU 11 73583690 73583690 deletion of <=200bp A - upstream_gene_variant BRCA-EU 11 73585022 73585022 single base substitution A T upstream_gene_variant BRCA-EU 11 73586235 73586235 single base substitution C G upstream_gene_variant BRCA-EU 11 73586702 73586702 single base substitution C T upstream_gene_variant BRCA-EU 11 73588111 73588111 single base substitution C T 5_prime_UTR_variant BRCA-EU 11 73588111 73588111 single base substitution C T intron_variant BRCA-EU 11 73588111 73588111 single base substitution C T splice_region_variant BRCA-EU 11 73588111 73588111 single base substitution C T upstream_gene_variant BRCA-EU 11 73588287 73588287 single base substitution G A 5_prime_UTR_variant BRCA-EU 11 73588287 73588287 single base substitution G A intron_variant BRCA-EU 11 73588287 73588287 single base substitution G A upstream_gene_variant BRCA-EU 11 73588623 73588623 single base substitution C T intron_variant BRCA-EU 11 73588623 73588623 single base substitution C T upstream_gene_variant BRCA-EU 11 73588960 73588960 single base substitution G T intron_variant BRCA-EU 11 73588960 73588960 single base substitution G T upstream_gene_variant BRCA-EU 11 73588984 73588984 single base substitution C T intron_variant BRCA-EU 11 73588984 73588984 single base substitution C T upstream_gene_variant BRCA-EU 11 73589556 73589556 single base substitution G A intron_variant BRCA-EU 11 73589556 73589556 single base substitution G A upstream_gene_variant BRCA-EU 11 73589633 73589633 single base substitution C T intron_variant BRCA-EU 11 73589633 73589633 single base substitution C T upstream_gene_variant BRCA-EU 11 73589736 73589736 single base substitution G A intron_variant BRCA-EU 11 73589736 73589736 single base substitution G A upstream_gene_variant BRCA-EU 11 73590411 73590411 single base substitution C T exon_variant BRCA-EU 11 73590411 73590411 single base substitution C T intron_variant BRCA-EU 11 73590905 73590905 single base substitution G A exon_variant BRCA-EU 11 73590905 73590905 single base substitution G A intron_variant BRCA-EU 11 73591552 73591552 single base substitution C T exon_variant BRCA-EU 11 73591552 73591552 single base substitution C T intron_variant BRCA-EU 11 73591711 73591711 single base substitution G A exon_variant BRCA-EU 11 73591711 73591711 single base substitution G A intron_variant BRCA-EU 11 73592358 73592358 single base substitution A C downstream_gene_variant BRCA-EU 11 73592358 73592358 single base substitution A C intron_variant BRCA-EU 11 73592438 73592438 single base substitution C G downstream_gene_variant BRCA-EU 11 73592438 73592438 single base substitution C G intron_variant BRCA-EU 11 73593042 73593042 single base substitution C G downstream_gene_variant BRCA-EU 11 73593042 73593042 single base substitution C G intron_variant BRCA-EU 11 73593608 73593608 single base substitution C G downstream_gene_variant BRCA-EU 11 73593608 73593608 single base substitution C G intron_variant BRCA-EU 11 73593608 73593608 single base substitution C G upstream_gene_variant BRCA-EU 11 73593718 73593718 single base substitution G T downstream_gene_variant BRCA-EU 11 73593718 73593718 single base substitution G T intron_variant BRCA-EU 11 73593718 73593718 single base substitution G T upstream_gene_variant BRCA-EU 11 73595670 73595670 single base substitution G T downstream_gene_variant BRCA-EU 11 73595670 73595670 single base substitution G T intron_variant BRCA-EU 11 73595670 73595670 single base substitution G T upstream_gene_variant BRCA-EU 11 73596095 73596095 single base substitution G A downstream_gene_variant BRCA-EU 11 73596095 73596095 single base substitution G A intron_variant BRCA-EU 11 73596095 73596095 single base substitution G A upstream_gene_variant BRCA-EU 11 73596336 73596336 single base substitution G A downstream_gene_variant BRCA-EU 11 73596336 73596336 single base substitution G A intron_variant BRCA-EU 11 73596336 73596336 single base substitution G A upstream_gene_variant BRCA-EU 11 73596770 73596770 single base substitution C T intron_variant BRCA-EU 11 73596770 73596770 single base substitution C T upstream_gene_variant BRCA-EU 11 73598807 73598807 insertion of <=200bp - T intron_variant BRCA-EU 11 73598807 73598807 insertion of <=200bp - T upstream_gene_variant BRCA-EU 11 73599212 73599212 single base substitution C T intron_variant BRCA-EU 11 73599212 73599212 single base substitution C T upstream_gene_variant BRCA-EU 11 73601201 73601201 single base substitution G A intron_variant BRCA-EU 11 73602272 73602272 single base substitution A T intron_variant BRCA-EU 11 73603448 73603448 single base substitution G T intron_variant BRCA-EU 11 73603597 73603597 single base substitution G A intron_variant BRCA-EU 11 73604400 73604400 single base substitution G C intron_variant BRCA-EU 11 73604566 73604566 single base substitution G C intron_variant BRCA-EU 11 73604683 73604683 single base substitution G A intron_variant BRCA-EU 11 73605817 73605817 single base substitution C T intron_variant BRCA-EU 11 73606016 73606016 single base substitution G C intron_variant BRCA-EU 11 73606560 73606560 single base substitution G C intron_variant BRCA-EU 11 73606560 73606560 single base substitution G C upstream_gene_variant BRCA-EU 11 73606848 73606848 single base substitution G T intron_variant BRCA-EU 11 73606848 73606848 single base substitution G T upstream_gene_variant BRCA-EU 11 73606905 73606905 single base substitution A T intron_variant BRCA-EU 11 73606905 73606905 single base substitution A T upstream_gene_variant BRCA-EU 11 73607269 73607269 single base substitution T G intron_variant BRCA-EU 11 73607269 73607269 single base substitution T G upstream_gene_variant BRCA-EU 11 73609529 73609529 deletion of <=200bp G - intron_variant BRCA-EU 11 73609529 73609529 deletion of <=200bp G - upstream_gene_variant BRCA-EU 11 73611000 73611000 single base substitution C T intron_variant BRCA-EU 11 73611000 73611000 single base substitution C T upstream_gene_variant BRCA-EU 11 73611148 73611148 single base substitution C G intron_variant BRCA-EU 11 73611148 73611148 single base substitution C G upstream_gene_variant BRCA-EU 11 73613817 73613817 single base substitution C T downstream_gene_variant BRCA-EU 11 73613817 73613817 single base substitution C T intron_variant BRCA-EU 11 73614196 73614196 single base substitution C A downstream_gene_variant BRCA-EU 11 73614196 73614196 single base substitution C A intron_variant BRCA-EU 11 73614476 73614476 single base substitution C G downstream_gene_variant BRCA-EU 11 73614476 73614476 single base substitution C G intron_variant BRCA-EU 11 73615633 73615633 single base substitution A T downstream_gene_variant BRCA-EU 11 73615633 73615633 single base substitution A T intron_variant BRCA-EU 11 73618985 73618985 single base substitution C G intron_variant BRCA-EU 11 73619824 73619824 insertion of <=200bp - T intron_variant BRCA-EU 11 73620374 73620374 single base substitution C G intron_variant BRCA-EU 11 73622134 73622134 single base substitution G A downstream_gene_variant BRCA-EU 11 73622134 73622134 single base substitution G A intron_variant BRCA-EU 11 73624492 73624495 deletion of <=200bp AAAT - downstream_gene_variant BRCA-EU 11 73624492 73624495 deletion of <=200bp AAAT - intron_variant BRCA-EU 11 73624529 73624529 single base substitution T A downstream_gene_variant BRCA-EU 11 73624529 73624529 single base substitution T A intron_variant BRCA-EU 11 73625826 73625826 single base substitution C T downstream_gene_variant BRCA-EU 11 73625826 73625826 single base substitution C T intron_variant BRCA-EU 11 73627740 73627740 single base substitution C G downstream_gene_variant BRCA-EU 11 73627740 73627740 single base substitution C G intron_variant BRCA-EU 11 73630267 73630267 single base substitution A G downstream_gene_variant BRCA-EU 11 73630267 73630267 single base substitution A G intron_variant BRCA-EU 11 73630477 73630477 single base substitution G A downstream_gene_variant BRCA-EU 11 73630477 73630477 single base substitution G A intron_variant BRCA-EU 11 73630573 73630573 single base substitution G C downstream_gene_variant BRCA-EU 11 73630573 73630573 single base substitution G C intron_variant BRCA-EU 11 73631611 73631611 single base substitution A G downstream_gene_variant BRCA-EU 11 73631611 73631611 single base substitution A G intron_variant BRCA-EU 11 73632492 73632492 single base substitution C T downstream_gene_variant BRCA-EU 11 73632492 73632492 single base substitution C T intron_variant BRCA-EU 11 73632934 73632934 single base substitution G C intron_variant BRCA-EU 11 73633611 73633611 single base substitution C G intron_variant BRCA-EU 11 73635956 73635956 single base substitution G T intron_variant BRCA-EU 11 73636408 73636408 single base substitution G A intron_variant BRCA-EU 11 73636619 73636619 single base substitution C T intron_variant BRCA-EU 11 73636934 73636934 deletion of <=200bp C - intron_variant BRCA-EU 11 73637869 73637869 single base substitution G T intron_variant BRCA-EU 11 73638648 73638648 single base substitution C G 3_prime_UTR_variant BRCA-EU 11 73638648 73638648 single base substitution C G downstream_gene_variant BRCA-EU 11 73638779 73638779 single base substitution G A 3_prime_UTR_variant BRCA-EU 11 73638779 73638779 single base substitution G A downstream_gene_variant BRCA-EU 11 73640568 73640568 single base substitution C T downstream_gene_variant BRCA-EU 11 73641265 73641265 deletion of <=200bp T - downstream_gene_variant BRCA-EU 11 73642060 73642060 single base substitution A T downstream_gene_variant BRCA-EU 11 73642424 73642424 single base substitution C G downstream_gene_variant BRCA-FR 11 73583141 73583141 single base substitution G T upstream_gene_variant BRCA-FR 11 73586890 73586890 single base substitution C T upstream_gene_variant BRCA-FR 11 73588111 73588111 single base substitution C T 5_prime_UTR_variant BRCA-FR 11 73588111 73588111 single base substitution C T intron_variant BRCA-FR 11 73588111 73588111 single base substitution C T splice_region_variant BRCA-FR 11 73588111 73588111 single base substitution C T upstream_gene_variant BRCA-FR 11 73588984 73588984 single base substitution C T intron_variant BRCA-FR 11 73588984 73588984 single base substitution C T upstream_gene_variant BRCA-FR 11 73589633 73589633 single base substitution C T intron_variant BRCA-FR 11 73589633 73589633 single base substitution C T upstream_gene_variant BRCA-FR 11 73590411 73590411 single base substitution C T exon_variant BRCA-FR 11 73590411 73590411 single base substitution C T intron_variant BRCA-FR 11 73594678 73594678 single base substitution C T downstream_gene_variant BRCA-FR 11 73594678 73594678 single base substitution C T intron_variant BRCA-FR 11 73594678 73594678 single base substitution C T upstream_gene_variant BRCA-FR 11 73599212 73599212 single base substitution C T intron_variant BRCA-FR 11 73599212 73599212 single base substitution C T upstream_gene_variant BRCA-FR 11 73601201 73601201 single base substitution G A intron_variant BRCA-FR 11 73601788 73601788 single base substitution G A intron_variant BRCA-FR 11 73603448 73603448 single base substitution G T intron_variant BRCA-FR 11 73603597 73603597 single base substitution G A intron_variant BRCA-FR 11 73604566 73604566 single base substitution G C intron_variant BRCA-FR 11 73604683 73604683 single base substitution G A intron_variant BRCA-FR 11 73606560 73606560 single base substitution G C intron_variant BRCA-FR 11 73606560 73606560 single base substitution G C upstream_gene_variant BRCA-FR 11 73606848 73606848 single base substitution G T intron_variant BRCA-FR 11 73606848 73606848 single base substitution G T upstream_gene_variant BRCA-FR 11 73622134 73622134 single base substitution G A downstream_gene_variant BRCA-FR 11 73622134 73622134 single base substitution G A intron_variant BRCA-FR 11 73627740 73627740 single base substitution C G downstream_gene_variant BRCA-FR 11 73627740 73627740 single base substitution C G intron_variant BRCA-FR 11 73635164 73635164 single base substitution G C intron_variant BRCA-FR 11 73638779 73638779 single base substitution G A 3_prime_UTR_variant BRCA-FR 11 73638779 73638779 single base substitution G A downstream_gene_variant BRCA-UK 11 73604400 73604400 single base substitution G C intron_variant BRCA-UK 11 73620374 73620374 single base substitution C G intron_variant BRCA-US 11 73584201 73584201 single base substitution C T upstream_gene_variant BRCA-US 11 73611344 73611344 single base substitution G A intron_variant BRCA-US 11 73611344 73611344 single base substitution G A synonymous_variant V115V 345G>A BRCA-US 11 73611344 73611344 single base substitution G A synonymous_variant V120V 360G>A BRCA-US 11 73611344 73611344 single base substitution G A synonymous_variant V137V 411G>A BRCA-US 11 73611344 73611344 single base substitution G A synonymous_variant V138V 414G>A BRCA-US 11 73611344 73611344 single base substitution G A synonymous_variant V22V 66G>A BRCA-US 11 73611344 73611344 single base substitution G A upstream_gene_variant BRCA-US 11 73627700 73627700 single base substitution T C downstream_gene_variant BRCA-US 11 73627700 73627700 single base substitution T C synonymous_variant S195S 585T>C BRCA-US 11 73627700 73627700 single base substitution T C synonymous_variant S293S 879T>C BRCA-US 11 73627700 73627700 single base substitution T C synonymous_variant S310S 930T>C BRCA-US 11 73627700 73627700 single base substitution T C synonymous_variant S311S 933T>C BTCA-JP 11 73602240 73602241 deletion of <=200bp AA - 5_prime_UTR_variant BTCA-JP 11 73602240 73602241 deletion of <=200bp AA - exon_variant BTCA-JP 11 73602240 73602241 deletion of <=200bp AA - frameshift_variant TK70 BTCA-JP 11 73602240 73602241 deletion of <=200bp AA - frameshift_variant TK75 BTCA-JP 11 73602240 73602241 deletion of <=200bp AA - frameshift_variant TK92 BTCA-JP 11 73602240 73602241 deletion of <=200bp AA - frameshift_variant TK93 BTCA-JP 11 73611375 73611375 single base substitution G A exon_variant BTCA-JP 11 73611375 73611375 single base substitution G A missense_variant V126M 376G>A BTCA-JP 11 73611375 73611375 single base substitution G A missense_variant V12M 34G>A BTCA-JP 11 73611375 73611375 single base substitution G A missense_variant V131M 391G>A BTCA-JP 11 73611375 73611375 single base substitution G A missense_variant V148M 442G>A BTCA-JP 11 73611375 73611375 single base substitution G A missense_variant V149M 445G>A BTCA-JP 11 73611375 73611375 single base substitution G A missense_variant V33M 97G>A BTCA-JP 11 73611375 73611375 single base substitution G A upstream_gene_variant BTCA-JP 11 73620516 73620516 single base substitution T C missense_variant L185P 554T>C BTCA-JP 11 73620516 73620516 single base substitution T C missense_variant L202P 605T>C BTCA-JP 11 73620516 73620516 single base substitution T C missense_variant L203P 608T>C BTCA-JP 11 73620516 73620516 single base substitution T C missense_variant L42P 125T>C BTCA-JP 11 73620516 73620516 single base substitution T C missense_variant L66P 197T>C BTCA-JP 11 73620516 73620516 single base substitution T C missense_variant L87P 260T>C CESC-US 11 73584276 73584276 single base substitution C T upstream_gene_variant CESC-US 11 73611423 73611423 single base substitution G T exon_variant CESC-US 11 73611423 73611423 single base substitution G T stop_gained E142* 424G>T CESC-US 11 73611423 73611423 single base substitution G T stop_gained E147* 439G>T CESC-US 11 73611423 73611423 single base substitution G T stop_gained E164* 490G>T CESC-US 11 73611423 73611423 single base substitution G T stop_gained E165* 493G>T CESC-US 11 73611423 73611423 single base substitution G T stop_gained E28* 82G>T CESC-US 11 73611423 73611423 single base substitution G T stop_gained E4* 10G>T CESC-US 11 73611423 73611423 single base substitution G T stop_gained E49* 145G>T CESC-US 11 73627672 73627672 single base substitution G A downstream_gene_variant CESC-US 11 73627672 73627672 single base substitution G A missense_variant G186E 557G>A CESC-US 11 73627672 73627672 single base substitution G A missense_variant G284E 851G>A CESC-US 11 73627672 73627672 single base substitution G A missense_variant G301E 902G>A CESC-US 11 73627672 73627672 single base substitution G A missense_variant G302E 905G>A CESC-US 11 73627672 73627672 single base substitution G A stop_gained W110* 330G>A CLLE-ES 11 73592928 73592928 single base substitution T A downstream_gene_variant CLLE-ES 11 73592928 73592928 single base substitution T A intron_variant CLLE-ES 11 73593445 73593445 single base substitution G A downstream_gene_variant CLLE-ES 11 73593445 73593445 single base substitution G A intron_variant CLLE-ES 11 73593445 73593445 single base substitution G A upstream_gene_variant CLLE-ES 11 73631016 73631016 single base substitution A T downstream_gene_variant CLLE-ES 11 73631016 73631016 single base substitution A T intron_variant CLLE-ES 11 73638448 73638448 single base substitution C T 3_prime_UTR_variant COAD-US 11 73620530 73620530 single base substitution C T missense_variant R190C 568C>T COAD-US 11 73620530 73620530 single base substitution C T missense_variant R207C 619C>T COAD-US 11 73620530 73620530 single base substitution C T missense_variant R208C 622C>T COAD-US 11 73620530 73620530 single base substitution C T missense_variant R47C 139C>T COAD-US 11 73620530 73620530 single base substitution C T missense_variant R71C 211C>T COAD-US 11 73620530 73620530 single base substitution C T missense_variant R92C 274C>T COAD-US 11 73638381 73638381 single base substitution C T stop_gained R270* 808C>T COAD-US 11 73638381 73638381 single base substitution C T stop_gained R368* 1102C>T COAD-US 11 73638381 73638381 single base substitution C T stop_gained R385* 1153C>T COAD-US 11 73638381 73638381 single base substitution C T stop_gained R386* 1156C>T COCA-CN 11 73584305 73584305 single base substitution G A upstream_gene_variant COCA-CN 11 73599988 73599988 single base substitution C A 5_prime_UTR_variant COCA-CN 11 73599988 73599988 single base substitution C A intron_variant COCA-CN 11 73607272 73607272 single base substitution A G intron_variant COCA-CN 11 73607272 73607272 single base substitution A G upstream_gene_variant COCA-CN 11 73610431 73610431 single base substitution G T intron_variant COCA-CN 11 73610431 73610431 single base substitution G T upstream_gene_variant COCA-CN 11 73613891 73613891 single base substitution G A downstream_gene_variant COCA-CN 11 73613891 73613891 single base substitution G A intron_variant COCA-CN 11 73627775 73627775 single base substitution A T downstream_gene_variant COCA-CN 11 73627775 73627775 single base substitution A T intron_variant COCA-CN 11 73627815 73627815 single base substitution A G downstream_gene_variant COCA-CN 11 73627815 73627815 single base substitution A G intron_variant EOPC-DE 11 73598783 73598783 single base substitution A T intron_variant EOPC-DE 11 73598783 73598783 single base substitution A T upstream_gene_variant ESAD-UK 11 73585205 73585205 single base substitution A T upstream_gene_variant ESAD-UK 11 73588312 73588312 single base substitution G T 5_prime_UTR_variant ESAD-UK 11 73588312 73588312 single base substitution G T intron_variant ESAD-UK 11 73588312 73588312 single base substitution G T upstream_gene_variant ESAD-UK 11 73588313 73588313 single base substitution C T 5_prime_UTR_variant ESAD-UK 11 73588313 73588313 single base substitution C T intron_variant ESAD-UK 11 73588313 73588313 single base substitution C T upstream_gene_variant ESAD-UK 11 73590843 73590843 single base substitution G T exon_variant ESAD-UK 11 73590843 73590843 single base substitution G T intron_variant ESAD-UK 11 73592084 73592084 single base substitution C G downstream_gene_variant ESAD-UK 11 73592084 73592084 single base substitution C G intron_variant ESAD-UK 11 73594023 73594023 single base substitution C A downstream_gene_variant ESAD-UK 11 73594023 73594023 single base substitution C A intron_variant ESAD-UK 11 73594023 73594023 single base substitution C A upstream_gene_variant ESAD-UK 11 73597571 73597571 single base substitution T A intron_variant ESAD-UK 11 73597571 73597571 single base substitution T A upstream_gene_variant ESAD-UK 11 73597613 73597613 single base substitution G A intron_variant ESAD-UK 11 73597613 73597613 single base substitution G A upstream_gene_variant ESAD-UK 11 73602545 73602545 single base substitution G C intron_variant ESAD-UK 11 73605260 73605260 single base substitution C A intron_variant ESAD-UK 11 73606516 73606516 single base substitution T A intron_variant ESAD-UK 11 73606516 73606516 single base substitution T A upstream_gene_variant ESAD-UK 11 73609481 73609481 single base substitution G A intron_variant ESAD-UK 11 73609481 73609481 single base substitution G A upstream_gene_variant ESAD-UK 11 73609684 73609684 single base substitution A G intron_variant ESAD-UK 11 73609684 73609684 single base substitution A G upstream_gene_variant ESAD-UK 11 73613746 73613746 insertion of <=200bp - T downstream_gene_variant ESAD-UK 11 73613746 73613746 insertion of <=200bp - T intron_variant ESAD-UK 11 73614011 73614011 single base substitution G A downstream_gene_variant ESAD-UK 11 73614011 73614011 single base substitution G A intron_variant ESAD-UK 11 73614311 73614311 single base substitution C T downstream_gene_variant ESAD-UK 11 73614311 73614311 single base substitution C T intron_variant ESAD-UK 11 73619264 73619264 insertion of <=200bp - AT intron_variant ESAD-UK 11 73619849 73619849 deletion of <=200bp T - intron_variant ESAD-UK 11 73621599 73621599 single base substitution C T downstream_gene_variant ESAD-UK 11 73621599 73621599 single base substitution C T intron_variant ESAD-UK 11 73622395 73622395 deletion of <=200bp T - downstream_gene_variant ESAD-UK 11 73622395 73622395 deletion of <=200bp T - intron_variant ESAD-UK 11 73624948 73624948 single base substitution T C downstream_gene_variant ESAD-UK 11 73624948 73624948 single base substitution T C intron_variant ESAD-UK 11 73627175 73627175 single base substitution T C downstream_gene_variant ESAD-UK 11 73627175 73627175 single base substitution T C intron_variant ESAD-UK 11 73628059 73628059 single base substitution A C downstream_gene_variant ESAD-UK 11 73628059 73628059 single base substitution A C intron_variant ESAD-UK 11 73628212 73628212 single base substitution C T downstream_gene_variant ESAD-UK 11 73628212 73628212 single base substitution C T intron_variant ESAD-UK 11 73629991 73629991 single base substitution C A downstream_gene_variant ESAD-UK 11 73629991 73629991 single base substitution C A splice_region_variant ESAD-UK 11 73630206 73630206 single base substitution C T downstream_gene_variant ESAD-UK 11 73630206 73630206 single base substitution C T intron_variant ESAD-UK 11 73630332 73630332 single base substitution C A downstream_gene_variant ESAD-UK 11 73630332 73630332 single base substitution C A intron_variant ESAD-UK 11 73630557 73630557 single base substitution T C downstream_gene_variant ESAD-UK 11 73630557 73630557 single base substitution T C intron_variant ESAD-UK 11 73631363 73631363 single base substitution G A downstream_gene_variant ESAD-UK 11 73631363 73631363 single base substitution G A intron_variant ESAD-UK 11 73632156 73632156 single base substitution C T downstream_gene_variant ESAD-UK 11 73632156 73632156 single base substitution C T intron_variant ESAD-UK 11 73632181 73632181 single base substitution C T downstream_gene_variant ESAD-UK 11 73632181 73632181 single base substitution C T intron_variant ESAD-UK 11 73634453 73634453 deletion of <=200bp A - intron_variant ESAD-UK 11 73635265 73635265 single base substitution T C intron_variant GBM-US 11 73627614 73627614 single base substitution G A downstream_gene_variant GBM-US 11 73627614 73627614 single base substitution G A missense_variant A146T 436G>A GBM-US 11 73627614 73627614 single base substitution G A missense_variant A167T 499G>A GBM-US 11 73627614 73627614 single base substitution G A missense_variant A265T 793G>A GBM-US 11 73627614 73627614 single base substitution G A missense_variant A282T 844G>A GBM-US 11 73627614 73627614 single base substitution G A missense_variant A283T 847G>A GBM-US 11 73627614 73627614 single base substitution G A missense_variant R91H 272G>A KIRC-US 11 73620605 73620605 single base substitution T A downstream_gene_variant KIRC-US 11 73620605 73620605 single base substitution T A missense_variant S117T 349T>A KIRC-US 11 73620605 73620605 single base substitution T A missense_variant S215T 643T>A KIRC-US 11 73620605 73620605 single base substitution T A missense_variant S232T 694T>A KIRC-US 11 73620605 73620605 single base substitution T A missense_variant S233T 697T>A KIRC-US 11 73620605 73620605 single base substitution T A missense_variant S72T 214T>A KIRC-US 11 73620605 73620605 single base substitution T A missense_variant S96T 286T>A KIRC-US 11 73638349 73638349 single base substitution A T missense_variant Q259L 776A>T KIRC-US 11 73638349 73638349 single base substitution A T missense_variant Q357L 1070A>T KIRC-US 11 73638349 73638349 single base substitution A T missense_variant Q374L 1121A>T KIRC-US 11 73638349 73638349 single base substitution A T missense_variant Q375L 1124A>T KIRP-US 11 73584202 73584202 single base substitution C A upstream_gene_variant LAML-KR 11 73607945 73607945 single base substitution G A intron_variant LAML-KR 11 73607945 73607945 single base substitution G A upstream_gene_variant LAML-KR 11 73611349 73611349 single base substitution G C intron_variant LAML-KR 11 73611349 73611349 single base substitution G C missense_variant C117S 350G>C LAML-KR 11 73611349 73611349 single base substitution G C missense_variant C122S 365G>C LAML-KR 11 73611349 73611349 single base substitution G C missense_variant C139S 416G>C LAML-KR 11 73611349 73611349 single base substitution G C missense_variant C140S 419G>C LAML-KR 11 73611349 73611349 single base substitution G C missense_variant C24S 71G>C LAML-KR 11 73611349 73611349 single base substitution G C splice_region_variant LAML-KR 11 73611349 73611349 single base substitution G C upstream_gene_variant LAML-KR 11 73614881 73614881 single base substitution T C downstream_gene_variant LAML-KR 11 73614881 73614881 single base substitution T C intron_variant LAML-KR 11 73619714 73619714 single base substitution A G intron_variant LAML-KR 11 73640868 73640868 single base substitution A G downstream_gene_variant LAML-KR 11 73641158 73641158 single base substitution G A downstream_gene_variant LGG-US 11 73610227 73610227 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant LGG-US 11 73610227 73610227 single base substitution G T exon_variant LGG-US 11 73610227 73610227 single base substitution G T missense_variant G107C 319G>T LGG-US 11 73610227 73610227 single base substitution G T missense_variant G108C 322G>T LGG-US 11 73610227 73610227 single base substitution G T missense_variant G85C 253G>T LGG-US 11 73610227 73610227 single base substitution G T missense_variant G90C 268G>T LGG-US 11 73610227 73610227 single base substitution G T upstream_gene_variant LICA-FR 11 73596888 73596888 deletion of <=200bp A - intron_variant LICA-FR 11 73596888 73596888 deletion of <=200bp A - upstream_gene_variant LICA-FR 11 73610671 73610671 single base substitution G T intron_variant LICA-FR 11 73610671 73610671 single base substitution G T upstream_gene_variant LICA-FR 11 73610672 73610672 single base substitution G T intron_variant LICA-FR 11 73610672 73610672 single base substitution G T upstream_gene_variant LICA-FR 11 73611391 73611391 single base substitution G A exon_variant LICA-FR 11 73611391 73611391 single base substitution G A missense_variant G131E 392G>A LICA-FR 11 73611391 73611391 single base substitution G A missense_variant G136E 407G>A LICA-FR 11 73611391 73611391 single base substitution G A missense_variant G153E 458G>A LICA-FR 11 73611391 73611391 single base substitution G A missense_variant G154E 461G>A LICA-FR 11 73611391 73611391 single base substitution G A missense_variant G17E 50G>A LICA-FR 11 73611391 73611391 single base substitution G A missense_variant G38E 113G>A LICA-FR 11 73611391 73611391 single base substitution G A upstream_gene_variant LINC-JP 11 73606039 73606039 single base substitution A G intron_variant LINC-JP 11 73618087 73618087 deletion of <=200bp T - intron_variant LINC-JP 11 73621803 73621803 single base substitution A T downstream_gene_variant LINC-JP 11 73621803 73621803 single base substitution A T intron_variant LINC-JP 11 73625477 73625477 single base substitution A G downstream_gene_variant LINC-JP 11 73625477 73625477 single base substitution A G intron_variant LINC-JP 11 73625477 73625477 single base substitution A G synonymous_variant T113T 339A>G LINC-JP 11 73625477 73625477 single base substitution A G synonymous_variant T134T 402A>G LINC-JP 11 73625477 73625477 single base substitution A G synonymous_variant T232T 696A>G LINC-JP 11 73625477 73625477 single base substitution A G synonymous_variant T249T 747A>G LINC-JP 11 73625477 73625477 single base substitution A G synonymous_variant T250T 750A>G LINC-JP 11 73639048 73639048 single base substitution T A downstream_gene_variant LIRI-JP 11 73583179 73583179 single base substitution G A upstream_gene_variant LIRI-JP 11 73585244 73585244 single base substitution G A upstream_gene_variant LIRI-JP 11 73585245 73585245 single base substitution C A upstream_gene_variant LIRI-JP 11 73590752 73590752 single base substitution A G exon_variant LIRI-JP 11 73590752 73590752 single base substitution A G intron_variant LIRI-JP 11 73593903 73593903 single base substitution C G downstream_gene_variant LIRI-JP 11 73593903 73593903 single base substitution C G intron_variant LIRI-JP 11 73593903 73593903 single base substitution C G upstream_gene_variant LIRI-JP 11 73594935 73594935 single base substitution A G downstream_gene_variant LIRI-JP 11 73594935 73594935 single base substitution A G intron_variant LIRI-JP 11 73594935 73594935 single base substitution A G upstream_gene_variant LIRI-JP 11 73599751 73599751 single base substitution A G intron_variant LIRI-JP 11 73599751 73599751 single base substitution A G upstream_gene_variant LIRI-JP 11 73599803 73599803 single base substitution G T intron_variant LIRI-JP 11 73599803 73599803 single base substitution G T upstream_gene_variant LIRI-JP 11 73601235 73601235 single base substitution A G intron_variant LIRI-JP 11 73601961 73601961 single base substitution T C intron_variant LIRI-JP 11 73602229 73602229 single base substitution A G 5_prime_UTR_variant LIRI-JP 11 73602229 73602229 single base substitution A G exon_variant LIRI-JP 11 73602229 73602229 single base substitution A G missense_variant R67G 199A>G LIRI-JP 11 73602229 73602229 single base substitution A G missense_variant R72G 214A>G LIRI-JP 11 73602229 73602229 single base substitution A G missense_variant R89G 265A>G LIRI-JP 11 73602229 73602229 single base substitution A G missense_variant R90G 268A>G LIRI-JP 11 73604106 73604106 single base substitution A G intron_variant LIRI-JP 11 73604974 73604974 single base substitution T C intron_variant LIRI-JP 11 73605122 73605122 single base substitution A G intron_variant LIRI-JP 11 73610050 73610050 single base substitution A G intron_variant LIRI-JP 11 73610050 73610050 single base substitution A G upstream_gene_variant LIRI-JP 11 73613851 73613851 single base substitution C T downstream_gene_variant LIRI-JP 11 73613851 73613851 single base substitution C T intron_variant LIRI-JP 11 73614641 73614641 single base substitution A T downstream_gene_variant LIRI-JP 11 73614641 73614641 single base substitution A T intron_variant LIRI-JP 11 73618976 73618976 single base substitution G T intron_variant LIRI-JP 11 73620745 73620745 single base substitution A G downstream_gene_variant LIRI-JP 11 73620745 73620745 single base substitution A G intron_variant LIRI-JP 11 73625656 73625656 single base substitution G T downstream_gene_variant LIRI-JP 11 73625656 73625656 single base substitution G T intron_variant LIRI-JP 11 73625685 73625685 single base substitution A G downstream_gene_variant LIRI-JP 11 73625685 73625685 single base substitution A G intron_variant LIRI-JP 11 73627990 73627990 single base substitution A G downstream_gene_variant LIRI-JP 11 73627990 73627990 single base substitution A G intron_variant LIRI-JP 11 73628055 73628055 single base substitution A G downstream_gene_variant LIRI-JP 11 73628055 73628055 single base substitution A G intron_variant LIRI-JP 11 73628371 73628371 single base substitution A G downstream_gene_variant LIRI-JP 11 73628371 73628371 single base substitution A G intron_variant LIRI-JP 11 73628741 73628741 single base substitution A G downstream_gene_variant LIRI-JP 11 73628741 73628741 single base substitution A G intron_variant LIRI-JP 11 73632424 73632424 single base substitution T C downstream_gene_variant LIRI-JP 11 73632424 73632424 single base substitution T C intron_variant LIRI-JP 11 73635363 73635363 single base substitution C A intron_variant LIRI-JP 11 73637914 73637914 single base substitution T A intron_variant LIRI-JP 11 73640061 73640061 single base substitution G A downstream_gene_variant LIRI-JP 11 73640513 73640513 single base substitution T C downstream_gene_variant LIRI-JP 11 73643578 73643578 single base substitution C G downstream_gene_variant LUSC-KR 11 73586065 73586065 single base substitution C T upstream_gene_variant LUSC-KR 11 73587701 73587701 single base substitution G C upstream_gene_variant LUSC-KR 11 73587997 73587997 single base substitution G C intron_variant LUSC-KR 11 73587997 73587997 single base substitution G C upstream_gene_variant LUSC-KR 11 73588064 73588064 single base substitution G C 5_prime_UTR_variant LUSC-KR 11 73588064 73588064 single base substitution G C exon_variant LUSC-KR 11 73588064 73588064 single base substitution G C intron_variant LUSC-KR 11 73588064 73588064 single base substitution G C upstream_gene_variant LUSC-KR 11 73588240 73588240 single base substitution G A 5_prime_UTR_variant LUSC-KR 11 73588240 73588240 single base substitution G A intron_variant LUSC-KR 11 73588240 73588240 single base substitution G A upstream_gene_variant LUSC-KR 11 73596150 73596150 single base substitution C T downstream_gene_variant LUSC-KR 11 73596150 73596150 single base substitution C T intron_variant LUSC-KR 11 73596150 73596150 single base substitution C T upstream_gene_variant LUSC-KR 11 73604807 73604807 single base substitution G A intron_variant LUSC-KR 11 73610110 73610110 single base substitution A C intron_variant LUSC-KR 11 73610110 73610110 single base substitution A C upstream_gene_variant LUSC-KR 11 73611478 73611478 single base substitution C G downstream_gene_variant LUSC-KR 11 73611478 73611478 single base substitution C G intron_variant LUSC-KR 11 73611520 73611520 single base substitution A G downstream_gene_variant LUSC-KR 11 73611520 73611520 single base substitution A G intron_variant LUSC-KR 11 73620537 73620537 single base substitution C G missense_variant A192G 575C>G LUSC-KR 11 73620537 73620537 single base substitution C G missense_variant A209G 626C>G LUSC-KR 11 73620537 73620537 single base substitution C G missense_variant A210G 629C>G LUSC-KR 11 73620537 73620537 single base substitution C G missense_variant A49G 146C>G LUSC-KR 11 73620537 73620537 single base substitution C G missense_variant A73G 218C>G LUSC-KR 11 73620537 73620537 single base substitution C G missense_variant A94G 281C>G LUSC-KR 11 73631956 73631956 single base substitution A T downstream_gene_variant LUSC-KR 11 73631956 73631956 single base substitution A T intron_variant LUSC-KR 11 73633312 73633312 single base substitution A G intron_variant LUSC-KR 11 73634462 73634462 single base substitution G T intron_variant LUSC-KR 11 73636362 73636362 single base substitution G C intron_variant LUSC-KR 11 73638306 73638306 single base substitution G A intron_variant LUSC-KR 11 73643026 73643026 single base substitution G A downstream_gene_variant LUSC-US 11 73584241 73584241 single base substitution G C upstream_gene_variant LUSC-US 11 73620469 73620469 single base substitution T A missense_variant D169E 507T>A LUSC-US 11 73620469 73620469 single base substitution T A missense_variant D186E 558T>A LUSC-US 11 73620469 73620469 single base substitution T A missense_variant D187E 561T>A LUSC-US 11 73620469 73620469 single base substitution T A missense_variant D26E 78T>A LUSC-US 11 73620469 73620469 single base substitution T A missense_variant D50E 150T>A LUSC-US 11 73620469 73620469 single base substitution T A missense_variant D71E 213T>A LUSC-US 11 73638345 73638345 single base substitution A C missense_variant K258Q 772A>C LUSC-US 11 73638345 73638345 single base substitution A C missense_variant K356Q 1066A>C LUSC-US 11 73638345 73638345 single base substitution A C missense_variant K373Q 1117A>C LUSC-US 11 73638345 73638345 single base substitution A C missense_variant K374Q 1120A>C MALY-DE 11 73597652 73597652 single base substitution A G intron_variant MALY-DE 11 73597652 73597652 single base substitution A G upstream_gene_variant MALY-DE 11 73599743 73599743 single base substitution G A intron_variant MALY-DE 11 73599743 73599743 single base substitution G A upstream_gene_variant MALY-DE 11 73603604 73603604 single base substitution C G intron_variant MALY-DE 11 73605364 73605364 single base substitution A G intron_variant MALY-DE 11 73612661 73612661 single base substitution T G downstream_gene_variant MALY-DE 11 73612661 73612661 single base substitution T G intron_variant MALY-DE 11 73617416 73617416 single base substitution G A intron_variant MALY-DE 11 73619454 73619454 single base substitution A C intron_variant MALY-DE 11 73628788 73628788 single base substitution G A downstream_gene_variant MALY-DE 11 73628788 73628788 single base substitution G A intron_variant MALY-DE 11 73634673 73634673 single base substitution C T intron_variant MELA-AU 11 73583643 73583643 single base substitution C T upstream_gene_variant MELA-AU 11 73585474 73585474 single base substitution T A upstream_gene_variant MELA-AU 11 73585568 73585568 single base substitution C T upstream_gene_variant MELA-AU 11 73586552 73586552 single base substitution C G upstream_gene_variant MELA-AU 11 73586580 73586580 single base substitution G A upstream_gene_variant MELA-AU 11 73586607 73586607 single base substitution C G upstream_gene_variant MELA-AU 11 73586698 73586698 single base substitution C G upstream_gene_variant MELA-AU 11 73587720 73587720 single base substitution G A upstream_gene_variant MELA-AU 11 73587744 73587744 single base substitution G A 5_prime_UTR_variant MELA-AU 11 73587744 73587744 single base substitution G A upstream_gene_variant MELA-AU 11 73587924 73587924 single base substitution G A intron_variant MELA-AU 11 73587924 73587924 single base substitution G A upstream_gene_variant MELA-AU 11 73587928 73587928 single base substitution G A intron_variant MELA-AU 11 73587928 73587928 single base substitution G A upstream_gene_variant MELA-AU 11 73588023 73588023 single base substitution C T 5_prime_UTR_variant MELA-AU 11 73588023 73588023 single base substitution C T exon_variant MELA-AU 11 73588023 73588023 single base substitution C T intron_variant MELA-AU 11 73588023 73588023 single base substitution C T upstream_gene_variant MELA-AU 11 73588039 73588039 single base substitution G A 5_prime_UTR_variant MELA-AU 11 73588039 73588039 single base substitution G A exon_variant MELA-AU 11 73588039 73588039 single base substitution G A intron_variant MELA-AU 11 73588039 73588039 single base substitution G A upstream_gene_variant MELA-AU 11 73590349 73590349 single base substitution T A exon_variant MELA-AU 11 73590349 73590349 single base substitution T A intron_variant MELA-AU 11 73591719 73591719 single base substitution A G exon_variant MELA-AU 11 73591719 73591719 single base substitution A G intron_variant MELA-AU 11 73592558 73592558 single base substitution C T downstream_gene_variant MELA-AU 11 73592558 73592558 single base substitution C T intron_variant MELA-AU 11 73592663 73592663 single base substitution C T downstream_gene_variant MELA-AU 11 73592663 73592663 single base substitution C T intron_variant MELA-AU 11 73592932 73592932 single base substitution T A downstream_gene_variant MELA-AU 11 73592932 73592932 single base substitution T A intron_variant MELA-AU 11 73592932 73592932 single base substitution T G downstream_gene_variant MELA-AU 11 73592932 73592932 single base substitution T G intron_variant MELA-AU 11 73593334 73593335 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 73593334 73593335 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 73593334 73593335 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 73593771 73593771 single base substitution C T downstream_gene_variant MELA-AU 11 73593771 73593771 single base substitution C T intron_variant MELA-AU 11 73593771 73593771 single base substitution C T upstream_gene_variant MELA-AU 11 73593782 73593782 single base substitution G C downstream_gene_variant MELA-AU 11 73593782 73593782 single base substitution G C intron_variant MELA-AU 11 73593782 73593782 single base substitution G C upstream_gene_variant MELA-AU 11 73593902 73593902 single base substitution C T downstream_gene_variant MELA-AU 11 73593902 73593902 single base substitution C T intron_variant MELA-AU 11 73593902 73593902 single base substitution C T upstream_gene_variant MELA-AU 11 73593918 73593918 single base substitution G A downstream_gene_variant MELA-AU 11 73593918 73593918 single base substitution G A intron_variant MELA-AU 11 73593918 73593918 single base substitution G A upstream_gene_variant MELA-AU 11 73593965 73593965 single base substitution G C downstream_gene_variant MELA-AU 11 73593965 73593965 single base substitution G C intron_variant MELA-AU 11 73593965 73593965 single base substitution G C upstream_gene_variant MELA-AU 11 73594192 73594192 single base substitution A G downstream_gene_variant MELA-AU 11 73594192 73594192 single base substitution A G intron_variant MELA-AU 11 73594192 73594192 single base substitution A G upstream_gene_variant MELA-AU 11 73594407 73594407 single base substitution C T downstream_gene_variant MELA-AU 11 73594407 73594407 single base substitution C T intron_variant MELA-AU 11 73594407 73594407 single base substitution C T upstream_gene_variant MELA-AU 11 73594888 73594888 single base substitution C T downstream_gene_variant MELA-AU 11 73594888 73594888 single base substitution C T intron_variant MELA-AU 11 73594888 73594888 single base substitution C T upstream_gene_variant MELA-AU 11 73595509 73595509 single base substitution C T downstream_gene_variant MELA-AU 11 73595509 73595509 single base substitution C T intron_variant MELA-AU 11 73595509 73595509 single base substitution C T upstream_gene_variant MELA-AU 11 73596197 73596197 single base substitution T A downstream_gene_variant MELA-AU 11 73596197 73596197 single base substitution T A intron_variant MELA-AU 11 73596197 73596197 single base substitution T A upstream_gene_variant MELA-AU 11 73596214 73596214 single base substitution C T downstream_gene_variant MELA-AU 11 73596214 73596214 single base substitution C T intron_variant MELA-AU 11 73596214 73596214 single base substitution C T upstream_gene_variant MELA-AU 11 73596480 73596480 single base substitution C T downstream_gene_variant MELA-AU 11 73596480 73596480 single base substitution C T intron_variant MELA-AU 11 73596480 73596480 single base substitution C T upstream_gene_variant MELA-AU 11 73597693 73597693 single base substitution G A intron_variant MELA-AU 11 73597693 73597693 single base substitution G A upstream_gene_variant MELA-AU 11 73599014 73599014 single base substitution C T intron_variant MELA-AU 11 73599014 73599014 single base substitution C T upstream_gene_variant MELA-AU 11 73599296 73599296 single base substitution T C intron_variant MELA-AU 11 73599296 73599296 single base substitution T C upstream_gene_variant MELA-AU 11 73599521 73599521 single base substitution C T intron_variant MELA-AU 11 73599521 73599521 single base substitution C T upstream_gene_variant MELA-AU 11 73600190 73600190 single base substitution T G intron_variant MELA-AU 11 73600190 73600190 single base substitution T G missense_variant L32R 95T>G MELA-AU 11 73600831 73600831 single base substitution C T intron_variant MELA-AU 11 73601431 73601431 single base substitution C T intron_variant MELA-AU 11 73601455 73601455 single base substitution C T intron_variant MELA-AU 11 73602887 73602887 single base substitution C T intron_variant MELA-AU 11 73603946 73603946 single base substitution C T intron_variant MELA-AU 11 73604256 73604256 single base substitution C G intron_variant MELA-AU 11 73605012 73605012 single base substitution T A intron_variant MELA-AU 11 73605721 73605721 single base substitution C T intron_variant MELA-AU 11 73605759 73605759 single base substitution C T intron_variant MELA-AU 11 73606170 73606170 single base substitution C T intron_variant MELA-AU 11 73606303 73606303 single base substitution C T intron_variant MELA-AU 11 73606576 73606576 single base substitution C T intron_variant MELA-AU 11 73606576 73606576 single base substitution C T upstream_gene_variant MELA-AU 11 73607809 73607809 single base substitution C T intron_variant MELA-AU 11 73607809 73607809 single base substitution C T upstream_gene_variant MELA-AU 11 73607866 73607866 single base substitution C T intron_variant MELA-AU 11 73607866 73607866 single base substitution C T upstream_gene_variant MELA-AU 11 73607993 73607993 single base substitution C T intron_variant MELA-AU 11 73607993 73607993 single base substitution C T upstream_gene_variant MELA-AU 11 73608030 73608030 single base substitution C T intron_variant MELA-AU 11 73608030 73608030 single base substitution C T upstream_gene_variant MELA-AU 11 73608299 73608299 single base substitution C T intron_variant MELA-AU 11 73608299 73608299 single base substitution C T upstream_gene_variant MELA-AU 11 73608344 73608344 single base substitution C T intron_variant MELA-AU 11 73608344 73608344 single base substitution C T upstream_gene_variant MELA-AU 11 73608537 73608537 single base substitution C T intron_variant MELA-AU 11 73608537 73608537 single base substitution C T upstream_gene_variant MELA-AU 11 73608617 73608617 single base substitution C T intron_variant MELA-AU 11 73608617 73608617 single base substitution C T upstream_gene_variant MELA-AU 11 73608912 73608912 single base substitution A G intron_variant MELA-AU 11 73608912 73608912 single base substitution A G upstream_gene_variant MELA-AU 11 73608963 73608963 single base substitution C T intron_variant MELA-AU 11 73608963 73608963 single base substitution C T upstream_gene_variant MELA-AU 11 73609618 73609618 single base substitution C T intron_variant MELA-AU 11 73609618 73609618 single base substitution C T upstream_gene_variant MELA-AU 11 73610152 73610152 single base substitution C T intron_variant MELA-AU 11 73610152 73610152 single base substitution C T upstream_gene_variant MELA-AU 11 73610693 73610693 single base substitution G A intron_variant MELA-AU 11 73610693 73610693 single base substitution G A upstream_gene_variant MELA-AU 11 73611107 73611107 single base substitution C T intron_variant MELA-AU 11 73611107 73611107 single base substitution C T upstream_gene_variant MELA-AU 11 73611179 73611179 single base substitution G A intron_variant MELA-AU 11 73611179 73611179 single base substitution G A upstream_gene_variant MELA-AU 11 73611364 73611364 single base substitution C T exon_variant MELA-AU 11 73611364 73611364 single base substitution C T missense_variant P122L 365C>T MELA-AU 11 73611364 73611364 single base substitution C T missense_variant P127L 380C>T MELA-AU 11 73611364 73611364 single base substitution C T missense_variant P144L 431C>T MELA-AU 11 73611364 73611364 single base substitution C T missense_variant P145L 434C>T MELA-AU 11 73611364 73611364 single base substitution C T missense_variant P29L 86C>T MELA-AU 11 73611364 73611364 single base substitution C T missense_variant P8L 23C>T MELA-AU 11 73611364 73611364 single base substitution C T upstream_gene_variant MELA-AU 11 73611542 73611542 single base substitution A G downstream_gene_variant MELA-AU 11 73611542 73611542 single base substitution A G intron_variant MELA-AU 11 73611621 73611621 single base substitution C T downstream_gene_variant MELA-AU 11 73611621 73611621 single base substitution C T intron_variant MELA-AU 11 73611775 73611775 single base substitution C T downstream_gene_variant MELA-AU 11 73611775 73611775 single base substitution C T intron_variant MELA-AU 11 73611777 73611777 single base substitution C A downstream_gene_variant MELA-AU 11 73611777 73611777 single base substitution C A intron_variant MELA-AU 11 73612405 73612405 single base substitution C T downstream_gene_variant MELA-AU 11 73612405 73612405 single base substitution C T intron_variant MELA-AU 11 73613000 73613000 single base substitution C T downstream_gene_variant MELA-AU 11 73613000 73613000 single base substitution C T intron_variant MELA-AU 11 73613643 73613643 single base substitution C T downstream_gene_variant MELA-AU 11 73613643 73613643 single base substitution C T intron_variant MELA-AU 11 73614345 73614345 single base substitution G A downstream_gene_variant MELA-AU 11 73614345 73614345 single base substitution G A intron_variant MELA-AU 11 73614425 73614425 single base substitution C T downstream_gene_variant MELA-AU 11 73614425 73614425 single base substitution C T intron_variant MELA-AU 11 73615370 73615370 single base substitution G T downstream_gene_variant MELA-AU 11 73615370 73615370 single base substitution G T intron_variant MELA-AU 11 73615435 73615435 single base substitution A T downstream_gene_variant MELA-AU 11 73615435 73615435 single base substitution A T intron_variant MELA-AU 11 73615883 73615883 single base substitution C T downstream_gene_variant MELA-AU 11 73615883 73615883 single base substitution C T intron_variant MELA-AU 11 73616045 73616045 single base substitution C T downstream_gene_variant MELA-AU 11 73616045 73616045 single base substitution C T intron_variant MELA-AU 11 73616349 73616349 single base substitution A G downstream_gene_variant MELA-AU 11 73616349 73616349 single base substitution A G intron_variant MELA-AU 11 73616391 73616391 single base substitution C T downstream_gene_variant MELA-AU 11 73616391 73616391 single base substitution C T intron_variant MELA-AU 11 73616947 73616947 single base substitution C T intron_variant MELA-AU 11 73618322 73618322 single base substitution C T intron_variant MELA-AU 11 73619047 73619047 single base substitution C T intron_variant MELA-AU 11 73619420 73619420 single base substitution A G intron_variant MELA-AU 11 73619472 73619472 single base substitution A G intron_variant MELA-AU 11 73619701 73619701 single base substitution C T intron_variant MELA-AU 11 73619793 73619793 single base substitution C T intron_variant MELA-AU 11 73620474 73620474 single base substitution G A missense_variant G171E 512G>A MELA-AU 11 73620474 73620474 single base substitution G A missense_variant G188E 563G>A MELA-AU 11 73620474 73620474 single base substitution G A missense_variant G189E 566G>A MELA-AU 11 73620474 73620474 single base substitution G A missense_variant G28E 83G>A MELA-AU 11 73620474 73620474 single base substitution G A missense_variant G52E 155G>A MELA-AU 11 73620474 73620474 single base substitution G A missense_variant G73E 218G>A MELA-AU 11 73620720 73620720 single base substitution C T downstream_gene_variant MELA-AU 11 73620720 73620720 single base substitution C T intron_variant MELA-AU 11 73620756 73620756 single base substitution C T downstream_gene_variant MELA-AU 11 73620756 73620756 single base substitution C T intron_variant MELA-AU 11 73622009 73622009 single base substitution C T downstream_gene_variant MELA-AU 11 73622009 73622009 single base substitution C T intron_variant MELA-AU 11 73622125 73622125 single base substitution C T downstream_gene_variant MELA-AU 11 73622125 73622125 single base substitution C T intron_variant MELA-AU 11 73622347 73622347 single base substitution C T downstream_gene_variant MELA-AU 11 73622347 73622347 single base substitution C T intron_variant MELA-AU 11 73622761 73622761 single base substitution C T downstream_gene_variant MELA-AU 11 73622761 73622761 single base substitution C T intron_variant MELA-AU 11 73623049 73623049 single base substitution C T downstream_gene_variant MELA-AU 11 73623049 73623049 single base substitution C T intron_variant MELA-AU 11 73623066 73623066 single base substitution C T downstream_gene_variant MELA-AU 11 73623066 73623066 single base substitution C T intron_variant MELA-AU 11 73623068 73623068 single base substitution T C downstream_gene_variant MELA-AU 11 73623068 73623068 single base substitution T C intron_variant MELA-AU 11 73623069 73623069 single base substitution C T downstream_gene_variant MELA-AU 11 73623069 73623069 single base substitution C T intron_variant MELA-AU 11 73623556 73623556 single base substitution C T downstream_gene_variant MELA-AU 11 73623556 73623556 single base substitution C T intron_variant MELA-AU 11 73623577 73623577 single base substitution C T downstream_gene_variant MELA-AU 11 73623577 73623577 single base substitution C T intron_variant MELA-AU 11 73624240 73624240 single base substitution C T downstream_gene_variant MELA-AU 11 73624240 73624240 single base substitution C T intron_variant MELA-AU 11 73624826 73624826 single base substitution C T downstream_gene_variant MELA-AU 11 73624826 73624826 single base substitution C T intron_variant MELA-AU 11 73626258 73626258 single base substitution C T downstream_gene_variant MELA-AU 11 73626258 73626258 single base substitution C T intron_variant MELA-AU 11 73626621 73626621 single base substitution C T downstream_gene_variant MELA-AU 11 73626621 73626621 single base substitution C T intron_variant MELA-AU 11 73626681 73626681 single base substitution C A downstream_gene_variant MELA-AU 11 73626681 73626681 single base substitution C A intron_variant MELA-AU 11 73626718 73626718 single base substitution C A downstream_gene_variant MELA-AU 11 73626718 73626718 single base substitution C A intron_variant MELA-AU 11 73626728 73626728 single base substitution C A downstream_gene_variant MELA-AU 11 73626728 73626728 single base substitution C A intron_variant MELA-AU 11 73626823 73626823 single base substitution C A downstream_gene_variant MELA-AU 11 73626823 73626823 single base substitution C A intron_variant MELA-AU 11 73626909 73626909 single base substitution C T downstream_gene_variant MELA-AU 11 73626909 73626909 single base substitution C T intron_variant MELA-AU 11 73627004 73627004 single base substitution C G downstream_gene_variant MELA-AU 11 73627004 73627004 single base substitution C G intron_variant MELA-AU 11 73627202 73627202 single base substitution C G downstream_gene_variant MELA-AU 11 73627202 73627202 single base substitution C G intron_variant MELA-AU 11 73627424 73627424 single base substitution C T downstream_gene_variant MELA-AU 11 73627424 73627424 single base substitution C T intron_variant MELA-AU 11 73627516 73627516 single base substitution C T downstream_gene_variant MELA-AU 11 73627516 73627516 single base substitution C T intron_variant MELA-AU 11 73627901 73627901 single base substitution C T downstream_gene_variant MELA-AU 11 73627901 73627901 single base substitution C T intron_variant MELA-AU 11 73628096 73628096 single base substitution C T downstream_gene_variant MELA-AU 11 73628096 73628096 single base substitution C T intron_variant MELA-AU 11 73628097 73628097 single base substitution C T downstream_gene_variant MELA-AU 11 73628097 73628097 single base substitution C T intron_variant MELA-AU 11 73628104 73628104 single base substitution C T downstream_gene_variant MELA-AU 11 73628104 73628104 single base substitution C T intron_variant MELA-AU 11 73628292 73628292 single base substitution C T downstream_gene_variant MELA-AU 11 73628292 73628292 single base substitution C T intron_variant MELA-AU 11 73628356 73628356 single base substitution A G downstream_gene_variant MELA-AU 11 73628356 73628356 single base substitution A G intron_variant MELA-AU 11 73628451 73628451 single base substitution C T downstream_gene_variant MELA-AU 11 73628451 73628451 single base substitution C T intron_variant MELA-AU 11 73628817 73628817 single base substitution G T downstream_gene_variant MELA-AU 11 73628817 73628817 single base substitution G T intron_variant MELA-AU 11 73629241 73629241 single base substitution C T downstream_gene_variant MELA-AU 11 73629241 73629241 single base substitution C T intron_variant MELA-AU 11 73629695 73629695 single base substitution C T downstream_gene_variant MELA-AU 11 73629695 73629695 single base substitution C T intron_variant MELA-AU 11 73629990 73629990 single base substitution C T downstream_gene_variant MELA-AU 11 73629990 73629990 single base substitution C T splice_region_variant MELA-AU 11 73630778 73630779 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 11 73630778 73630779 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 73631367 73631367 single base substitution C T downstream_gene_variant MELA-AU 11 73631367 73631367 single base substitution C T intron_variant MELA-AU 11 73632093 73632093 single base substitution C T downstream_gene_variant MELA-AU 11 73632093 73632093 single base substitution C T intron_variant MELA-AU 11 73632228 73632228 single base substitution C T downstream_gene_variant MELA-AU 11 73632228 73632228 single base substitution C T intron_variant MELA-AU 11 73632680 73632680 single base substitution T C downstream_gene_variant MELA-AU 11 73632680 73632680 single base substitution T C intron_variant MELA-AU 11 73632682 73632682 single base substitution G A downstream_gene_variant MELA-AU 11 73632682 73632682 single base substitution G A intron_variant MELA-AU 11 73632889 73632889 single base substitution A T intron_variant MELA-AU 11 73633448 73633448 single base substitution C T intron_variant MELA-AU 11 73633453 73633453 single base substitution C T intron_variant MELA-AU 11 73633584 73633584 single base substitution C T intron_variant MELA-AU 11 73634126 73634126 single base substitution G A intron_variant MELA-AU 11 73634673 73634673 single base substitution C T intron_variant MELA-AU 11 73634945 73634945 single base substitution G A intron_variant MELA-AU 11 73634992 73634992 single base substitution G C intron_variant MELA-AU 11 73635133 73635134 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 73635408 73635408 single base substitution T G intron_variant MELA-AU 11 73636179 73636179 single base substitution G A intron_variant MELA-AU 11 73636688 73636688 single base substitution C T intron_variant MELA-AU 11 73636867 73636867 single base substitution C T intron_variant MELA-AU 11 73637274 73637274 single base substitution C T intron_variant MELA-AU 11 73637479 73637479 single base substitution C T intron_variant MELA-AU 11 73637637 73637637 single base substitution C T intron_variant MELA-AU 11 73637775 73637775 single base substitution C T intron_variant MELA-AU 11 73637788 73637788 single base substitution C T intron_variant MELA-AU 11 73637838 73637838 single base substitution C T intron_variant MELA-AU 11 73637901 73637901 single base substitution C T intron_variant MELA-AU 11 73638477 73638477 single base substitution C G 3_prime_UTR_variant MELA-AU 11 73639061 73639061 single base substitution G A downstream_gene_variant MELA-AU 11 73639236 73639236 single base substitution C T downstream_gene_variant MELA-AU 11 73639490 73639490 single base substitution T A downstream_gene_variant MELA-AU 11 73639535 73639535 single base substitution G A downstream_gene_variant MELA-AU 11 73639557 73639557 single base substitution C T downstream_gene_variant MELA-AU 11 73639747 73639747 single base substitution G A downstream_gene_variant MELA-AU 11 73639771 73639771 single base substitution C T downstream_gene_variant MELA-AU 11 73639983 73639983 single base substitution C T downstream_gene_variant MELA-AU 11 73641024 73641024 single base substitution C T downstream_gene_variant MELA-AU 11 73641070 73641070 single base substitution C T downstream_gene_variant MELA-AU 11 73641580 73641580 single base substitution C T downstream_gene_variant MELA-AU 11 73641597 73641597 single base substitution G A downstream_gene_variant MELA-AU 11 73642347 73642347 single base substitution G A downstream_gene_variant MELA-AU 11 73642457 73642457 single base substitution G T downstream_gene_variant MELA-AU 11 73643073 73643073 single base substitution T C downstream_gene_variant ORCA-IN 11 73584366 73584366 single base substitution C T upstream_gene_variant ORCA-IN 11 73587187 73587187 deletion of <=200bp G - upstream_gene_variant ORCA-IN 11 73598342 73598342 single base substitution G C 5_prime_UTR_variant ORCA-IN 11 73598342 73598342 single base substitution G C intron_variant ORCA-IN 11 73598342 73598342 single base substitution G C upstream_gene_variant ORCA-IN 11 73598795 73598795 single base substitution G C intron_variant ORCA-IN 11 73598795 73598795 single base substitution G C upstream_gene_variant ORCA-IN 11 73599031 73599031 single base substitution G A intron_variant ORCA-IN 11 73599031 73599031 single base substitution G A upstream_gene_variant ORCA-IN 11 73599315 73599315 single base substitution G T intron_variant ORCA-IN 11 73599315 73599315 single base substitution G T upstream_gene_variant ORCA-IN 11 73601199 73601199 single base substitution C G intron_variant ORCA-IN 11 73602147 73602147 single base substitution C G intron_variant OV-AU 11 73584108 73584108 single base substitution C T upstream_gene_variant OV-AU 11 73587553 73587553 single base substitution A G upstream_gene_variant OV-AU 11 73588075 73588075 deletion of <=200bp G - 5_prime_UTR_variant OV-AU 11 73588075 73588075 deletion of <=200bp G - exon_variant OV-AU 11 73588075 73588075 deletion of <=200bp G - frameshift_variant A3 OV-AU 11 73588075 73588075 deletion of <=200bp G - intron_variant OV-AU 11 73588075 73588075 deletion of <=200bp G - upstream_gene_variant OV-AU 11 73591598 73591598 single base substitution G A exon_variant OV-AU 11 73591598 73591598 single base substitution G A intron_variant OV-AU 11 73592915 73592915 single base substitution C G downstream_gene_variant OV-AU 11 73592915 73592915 single base substitution C G intron_variant OV-AU 11 73618908 73618908 single base substitution G A intron_variant OV-AU 11 73631562 73631562 single base substitution G A downstream_gene_variant OV-AU 11 73631562 73631562 single base substitution G A intron_variant OV-AU 11 73634372 73634372 single base substitution G A intron_variant OV-AU 11 73636154 73636154 single base substitution A G intron_variant OV-AU 11 73639723 73639723 single base substitution C T downstream_gene_variant OV-AU 11 73642670 73642670 single base substitution C G downstream_gene_variant PACA-AU 11 73587789 73587831 deletion of <=200bp ACGCGATGCTCACCGAACAGGTGGGAGAAGAGGGCCCGAACGC - intron_variant PACA-AU 11 73587789 73587831 deletion of <=200bp ACGCGATGCTCACCGAACAGGTGGGAGAAGAGGGCCCGAACGC - upstream_gene_variant PACA-AU 11 73587876 73587876 single base substitution C A intron_variant PACA-AU 11 73587876 73587876 single base substitution C A upstream_gene_variant PACA-AU 11 73590825 73590825 single base substitution G C exon_variant PACA-AU 11 73590825 73590825 single base substitution G C intron_variant PACA-AU 11 73593699 73593699 single base substitution G A downstream_gene_variant PACA-AU 11 73593699 73593699 single base substitution G A intron_variant PACA-AU 11 73593699 73593699 single base substitution G A upstream_gene_variant PACA-AU 11 73604741 73604741 single base substitution C T intron_variant PACA-AU 11 73612383 73612383 single base substitution A C downstream_gene_variant PACA-AU 11 73612383 73612383 single base substitution A C intron_variant PACA-AU 11 73620512 73620512 single base substitution C T stop_gained R184* 550C>T PACA-AU 11 73620512 73620512 single base substitution C T stop_gained R201* 601C>T PACA-AU 11 73620512 73620512 single base substitution C T stop_gained R202* 604C>T PACA-AU 11 73620512 73620512 single base substitution C T stop_gained R41* 121C>T PACA-AU 11 73620512 73620512 single base substitution C T stop_gained R65* 193C>T PACA-AU 11 73620512 73620512 single base substitution C T stop_gained R86* 256C>T PACA-AU 11 73621264 73621264 single base substitution G A downstream_gene_variant PACA-AU 11 73621264 73621264 single base substitution G A intron_variant PACA-AU 11 73624945 73624945 insertion of <=200bp - T downstream_gene_variant PACA-AU 11 73624945 73624945 insertion of <=200bp - T intron_variant PACA-AU 11 73625405 73625405 single base substitution C A downstream_gene_variant PACA-AU 11 73625405 73625405 single base substitution C A intron_variant PACA-AU 11 73627397 73627397 single base substitution C A downstream_gene_variant PACA-AU 11 73627397 73627397 single base substitution C A intron_variant PACA-AU 11 73631723 73631723 single base substitution C T downstream_gene_variant PACA-AU 11 73631723 73631723 single base substitution C T intron_variant PACA-AU 11 73632621 73632621 single base substitution G A downstream_gene_variant PACA-AU 11 73632621 73632621 single base substitution G A intron_variant PACA-AU 11 73638231 73638231 single base substitution C T intron_variant PACA-CA 11 73586404 73586404 single base substitution C G upstream_gene_variant PACA-CA 11 73590329 73590329 single base substitution T C exon_variant PACA-CA 11 73590329 73590329 single base substitution T C intron_variant PACA-CA 11 73590481 73590481 single base substitution A G exon_variant PACA-CA 11 73590481 73590481 single base substitution A G intron_variant PACA-CA 11 73590760 73590760 insertion of <=200bp - A exon_variant PACA-CA 11 73590760 73590760 insertion of <=200bp - A intron_variant PACA-CA 11 73597139 73597139 single base substitution A T intron_variant PACA-CA 11 73597139 73597139 single base substitution A T upstream_gene_variant PACA-CA 11 73597697 73597697 single base substitution G A intron_variant PACA-CA 11 73597697 73597697 single base substitution G A upstream_gene_variant PACA-CA 11 73599190 73599193 deletion of <=200bp TTTC - intron_variant PACA-CA 11 73599190 73599193 deletion of <=200bp TTTC - upstream_gene_variant PACA-CA 11 73604177 73604177 single base substitution G A intron_variant PACA-CA 11 73606520 73606520 single base substitution G A intron_variant PACA-CA 11 73606520 73606520 single base substitution G A upstream_gene_variant PACA-CA 11 73611435 73611435 single base substitution T G downstream_gene_variant PACA-CA 11 73611435 73611435 single base substitution T G missense_variant C146G 436T>G PACA-CA 11 73611435 73611435 single base substitution T G missense_variant C151G 451T>G PACA-CA 11 73611435 73611435 single base substitution T G missense_variant C168G 502T>G PACA-CA 11 73611435 73611435 single base substitution T G missense_variant C169G 505T>G PACA-CA 11 73611435 73611435 single base substitution T G missense_variant C32G 94T>G PACA-CA 11 73611435 73611435 single base substitution T G missense_variant C53G 157T>G PACA-CA 11 73611435 73611435 single base substitution T G missense_variant C8G 22T>G PACA-CA 11 73612182 73612182 single base substitution G T downstream_gene_variant PACA-CA 11 73612182 73612182 single base substitution G T intron_variant PACA-CA 11 73618722 73618722 single base substitution C T intron_variant PACA-CA 11 73619432 73619432 single base substitution G A intron_variant PACA-CA 11 73625102 73625102 single base substitution C T downstream_gene_variant PACA-CA 11 73625102 73625102 single base substitution C T intron_variant PACA-CA 11 73628081 73628081 single base substitution T A downstream_gene_variant PACA-CA 11 73628081 73628081 single base substitution T A intron_variant PACA-CA 11 73628585 73628585 single base substitution C T downstream_gene_variant PACA-CA 11 73628585 73628585 single base substitution C T intron_variant PACA-CA 11 73629530 73629530 single base substitution A T downstream_gene_variant PACA-CA 11 73629530 73629530 single base substitution A T intron_variant PACA-CA 11 73632669 73632669 single base substitution G A downstream_gene_variant PACA-CA 11 73632669 73632669 single base substitution G A intron_variant PACA-CA 11 73633425 73633425 single base substitution G T intron_variant PACA-CA 11 73635530 73635530 single base substitution A G intron_variant PACA-CA 11 73637164 73637164 single base substitution T C intron_variant PACA-CA 11 73641553 73641553 single base substitution A G downstream_gene_variant PACA-CA 11 73642587 73642587 single base substitution C T downstream_gene_variant PBCA-DE 11 73590736 73590736 insertion of <=200bp - CCCC exon_variant PBCA-DE 11 73590736 73590736 insertion of <=200bp - CCCC intron_variant PBCA-DE 11 73592193 73592193 single base substitution C T downstream_gene_variant PBCA-DE 11 73592193 73592193 single base substitution C T intron_variant PBCA-DE 11 73597718 73597725 deletion of <=200bp AAAAAAAA - intron_variant PBCA-DE 11 73597718 73597725 deletion of <=200bp AAAAAAAA - upstream_gene_variant PBCA-DE 11 73627312 73627312 single base substitution G T downstream_gene_variant PBCA-DE 11 73627312 73627312 single base substitution G T intron_variant PRAD-CA 11 73587187 73587187 single base substitution G A upstream_gene_variant PRAD-CA 11 73587864 73587864 single base substitution C T intron_variant PRAD-CA 11 73587864 73587864 single base substitution C T upstream_gene_variant PRAD-CA 11 73588303 73588303 single base substitution G A 5_prime_UTR_variant PRAD-CA 11 73588303 73588303 single base substitution G A intron_variant PRAD-CA 11 73588303 73588303 single base substitution G A upstream_gene_variant PRAD-CA 11 73619472 73619472 single base substitution A G intron_variant PRAD-CA 11 73626821 73626821 single base substitution G T downstream_gene_variant PRAD-CA 11 73626821 73626821 single base substitution G T intron_variant PRAD-CA 11 73635847 73635847 single base substitution A C intron_variant PRAD-UK 11 73591079 73591079 single base substitution G C exon_variant PRAD-UK 11 73591079 73591079 single base substitution G C intron_variant PRAD-UK 11 73607845 73607845 single base substitution A G intron_variant PRAD-UK 11 73607845 73607845 single base substitution A G upstream_gene_variant PRAD-UK 11 73612626 73612626 single base substitution T G downstream_gene_variant PRAD-UK 11 73612626 73612626 single base substitution T G intron_variant PRAD-UK 11 73616451 73616451 single base substitution A G intron_variant RECA-EU 11 73616808 73616808 single base substitution A G intron_variant RECA-EU 11 73617766 73617766 single base substitution C A intron_variant RECA-EU 11 73618934 73618934 single base substitution A C intron_variant RECA-EU 11 73626369 73626369 single base substitution C A downstream_gene_variant RECA-EU 11 73626369 73626369 single base substitution C A intron_variant RECA-EU 11 73635757 73635757 single base substitution C T intron_variant RECA-EU 11 73642709 73642709 single base substitution C T downstream_gene_variant SKCA-BR 11 73583777 73583777 single base substitution T A upstream_gene_variant SKCA-BR 11 73587171 73587172 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 11 73588023 73588023 single base substitution C T 5_prime_UTR_variant SKCA-BR 11 73588023 73588023 single base substitution C T exon_variant SKCA-BR 11 73588023 73588023 single base substitution C T intron_variant SKCA-BR 11 73588023 73588023 single base substitution C T upstream_gene_variant SKCA-BR 11 73591733 73591733 single base substitution A G exon_variant SKCA-BR 11 73591733 73591733 single base substitution A G intron_variant SKCA-BR 11 73591791 73591791 single base substitution C G downstream_gene_variant SKCA-BR 11 73591791 73591791 single base substitution C G intron_variant SKCA-BR 11 73593150 73593150 single base substitution T C downstream_gene_variant SKCA-BR 11 73593150 73593150 single base substitution T C intron_variant SKCA-BR 11 73593150 73593150 single base substitution T C upstream_gene_variant SKCA-BR 11 73594759 73594759 single base substitution T G downstream_gene_variant SKCA-BR 11 73594759 73594759 single base substitution T G intron_variant SKCA-BR 11 73594759 73594759 single base substitution T G upstream_gene_variant SKCA-BR 11 73594919 73594919 single base substitution T G downstream_gene_variant SKCA-BR 11 73594919 73594919 single base substitution T G intron_variant SKCA-BR 11 73594919 73594919 single base substitution T G upstream_gene_variant SKCA-BR 11 73601455 73601455 single base substitution C T intron_variant SKCA-BR 11 73605357 73605357 single base substitution A T intron_variant SKCA-BR 11 73605425 73605425 single base substitution C T intron_variant SKCA-BR 11 73607351 73607352 deletion of <=200bp AT - intron_variant SKCA-BR 11 73607351 73607352 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 11 73607363 73607363 single base substitution A T intron_variant SKCA-BR 11 73607363 73607363 single base substitution A T upstream_gene_variant SKCA-BR 11 73607794 73607794 single base substitution T C intron_variant SKCA-BR 11 73607794 73607794 single base substitution T C upstream_gene_variant SKCA-BR 11 73608170 73608170 single base substitution G C intron_variant SKCA-BR 11 73608170 73608170 single base substitution G C upstream_gene_variant SKCA-BR 11 73608269 73608269 single base substitution G T intron_variant SKCA-BR 11 73608269 73608269 single base substitution G T upstream_gene_variant SKCA-BR 11 73609203 73609203 single base substitution G A intron_variant SKCA-BR 11 73609203 73609203 single base substitution G A upstream_gene_variant SKCA-BR 11 73610542 73610542 single base substitution C G intron_variant SKCA-BR 11 73610542 73610542 single base substitution C G upstream_gene_variant SKCA-BR 11 73619428 73619428 single base substitution G A intron_variant SKCA-BR 11 73620592 73620592 single base substitution T G downstream_gene_variant SKCA-BR 11 73620592 73620592 single base substitution T G synonymous_variant G112G 336T>G SKCA-BR 11 73620592 73620592 single base substitution T G synonymous_variant G210G 630T>G SKCA-BR 11 73620592 73620592 single base substitution T G synonymous_variant G227G 681T>G SKCA-BR 11 73620592 73620592 single base substitution T G synonymous_variant G228G 684T>G SKCA-BR 11 73620592 73620592 single base substitution T G synonymous_variant G67G 201T>G SKCA-BR 11 73620592 73620592 single base substitution T G synonymous_variant G91G 273T>G SKCA-BR 11 73624387 73624387 single base substitution C T downstream_gene_variant SKCA-BR 11 73624387 73624387 single base substitution C T intron_variant SKCA-BR 11 73627356 73627356 insertion of <=200bp - CAGAGTATATTAT downstream_gene_variant SKCA-BR 11 73627356 73627356 insertion of <=200bp - CAGAGTATATTAT intron_variant SKCA-BR 11 73629409 73629409 single base substitution T C downstream_gene_variant SKCA-BR 11 73629409 73629409 single base substitution T C intron_variant SKCA-BR 11 73630001 73630001 single base substitution G A downstream_gene_variant SKCA-BR 11 73630001 73630001 single base substitution G A synonymous_variant P199P 597G>A SKCA-BR 11 73630001 73630001 single base substitution G A synonymous_variant P297P 891G>A SKCA-BR 11 73630001 73630001 single base substitution G A synonymous_variant P314P 942G>A SKCA-BR 11 73630001 73630001 single base substitution G A synonymous_variant P315P 945G>A SKCA-BR 11 73631224 73631224 single base substitution A G downstream_gene_variant SKCA-BR 11 73631224 73631224 single base substitution A G intron_variant SKCA-BR 11 73637689 73637689 single base substitution G A intron_variant SKCA-BR 11 73638920 73638920 single base substitution C T downstream_gene_variant SKCA-BR 11 73639251 73639279 deletion of <=200bp TATGCTAAAGCTTGAGAGCCACTGATCTA - downstream_gene_variant SKCA-BR 11 73641239 73641239 single base substitution C A downstream_gene_variant SKCM-US 11 73584408 73584408 single base substitution G A upstream_gene_variant SKCM-US 11 73602227 73602227 single base substitution C T 5_prime_UTR_variant SKCM-US 11 73602227 73602227 single base substitution C T exon_variant SKCM-US 11 73602227 73602227 single base substitution C T missense_variant S66F 197C>T SKCM-US 11 73602227 73602227 single base substitution C T missense_variant S71F 212C>T SKCM-US 11 73602227 73602227 single base substitution C T missense_variant S88F 263C>T SKCM-US 11 73602227 73602227 single base substitution C T missense_variant S89F 266C>T SKCM-US 11 73620448 73620448 single base substitution C T synonymous_variant I162I 486C>T SKCM-US 11 73620448 73620448 single base substitution C T synonymous_variant I179I 537C>T SKCM-US 11 73620448 73620448 single base substitution C T synonymous_variant I180I 540C>T SKCM-US 11 73620448 73620448 single base substitution C T synonymous_variant I19I 57C>T SKCM-US 11 73620448 73620448 single base substitution C T synonymous_variant I43I 129C>T SKCM-US 11 73620448 73620448 single base substitution C T synonymous_variant I64I 192C>T SKCM-US 11 73620606 73620606 single base substitution C T downstream_gene_variant SKCM-US 11 73620606 73620606 single base substitution C T missense_variant S117F 350C>T SKCM-US 11 73620606 73620606 single base substitution C T missense_variant S215F 644C>T SKCM-US 11 73620606 73620606 single base substitution C T missense_variant S232F 695C>T SKCM-US 11 73620606 73620606 single base substitution C T missense_variant S233F 698C>T SKCM-US 11 73620606 73620606 single base substitution C T missense_variant S72F 215C>T SKCM-US 11 73620606 73620606 single base substitution C T missense_variant S96F 287C>T SKCM-US 11 73620622 73620622 single base substitution C T downstream_gene_variant SKCM-US 11 73620622 73620622 single base substitution C T synonymous_variant S101S 303C>T SKCM-US 11 73620622 73620622 single base substitution C T synonymous_variant S122S 366C>T SKCM-US 11 73620622 73620622 single base substitution C T synonymous_variant S220S 660C>T SKCM-US 11 73620622 73620622 single base substitution C T synonymous_variant S237S 711C>T SKCM-US 11 73620622 73620622 single base substitution C T synonymous_variant S238S 714C>T SKCM-US 11 73620622 73620622 single base substitution C T synonymous_variant S77S 231C>T SKCM-US 11 73625470 73625470 single base substitution T C downstream_gene_variant SKCM-US 11 73625470 73625470 single base substitution T C intron_variant SKCM-US 11 73625470 73625470 single base substitution T C missense_variant V111A 332T>C SKCM-US 11 73625470 73625470 single base substitution T C missense_variant V132A 395T>C SKCM-US 11 73625470 73625470 single base substitution T C missense_variant V230A 689T>C SKCM-US 11 73625470 73625470 single base substitution T C missense_variant V247A 740T>C SKCM-US 11 73625470 73625470 single base substitution T C missense_variant V248A 743T>C SKCM-US 11 73627595 73627595 single base substitution C T downstream_gene_variant SKCM-US 11 73627595 73627595 single base substitution C T missense_variant P85S 253C>T SKCM-US 11 73627595 73627595 single base substitution C T synonymous_variant F139F 417C>T SKCM-US 11 73627595 73627595 single base substitution C T synonymous_variant F160F 480C>T SKCM-US 11 73627595 73627595 single base substitution C T synonymous_variant F258F 774C>T SKCM-US 11 73627595 73627595 single base substitution C T synonymous_variant F275F 825C>T SKCM-US 11 73627595 73627595 single base substitution C T synonymous_variant F276F 828C>T SKCM-US 11 73638353 73638353 single base substitution C T synonymous_variant I260I 780C>T SKCM-US 11 73638353 73638353 single base substitution C T synonymous_variant I358I 1074C>T SKCM-US 11 73638353 73638353 single base substitution C T synonymous_variant I375I 1125C>T SKCM-US 11 73638353 73638353 single base substitution C T synonymous_variant I376I 1128C>T STAD-US 11 73602177 73602177 single base substitution T C 5_prime_UTR_variant STAD-US 11 73602177 73602177 single base substitution T C exon_variant STAD-US 11 73602177 73602177 single base substitution T C synonymous_variant C49C 147T>C STAD-US 11 73602177 73602177 single base substitution T C synonymous_variant C54C 162T>C STAD-US 11 73602177 73602177 single base substitution T C synonymous_variant C71C 213T>C STAD-US 11 73602177 73602177 single base substitution T C synonymous_variant C72C 216T>C STAD-US 11 73625524 73625524 single base substitution G A downstream_gene_variant STAD-US 11 73625524 73625524 single base substitution G A intron_variant STAD-US 11 73625524 73625524 single base substitution G A missense_variant C129Y 386G>A STAD-US 11 73625524 73625524 single base substitution G A missense_variant C150Y 449G>A STAD-US 11 73625524 73625524 single base substitution G A missense_variant C248Y 743G>A STAD-US 11 73625524 73625524 single base substitution G A missense_variant C265Y 794G>A STAD-US 11 73625524 73625524 single base substitution G A missense_variant C266Y 797G>A STAD-US 11 73638354 73638354 single base substitution T C missense_variant Y261H 781T>C STAD-US 11 73638354 73638354 single base substitution T C missense_variant Y359H 1075T>C STAD-US 11 73638354 73638354 single base substitution T C missense_variant Y376H 1126T>C STAD-US 11 73638354 73638354 single base substitution T C missense_variant Y377H 1129T>C UCEC-US 11 73610256 73610256 single base substitution G T 5_prime_UTR_variant UCEC-US 11 73610256 73610256 single base substitution G T exon_variant UCEC-US 11 73610256 73610256 single base substitution G T missense_variant M116I 348G>T UCEC-US 11 73610256 73610256 single base substitution G T missense_variant M117I 351G>T UCEC-US 11 73610256 73610256 single base substitution G T missense_variant M94I 282G>T UCEC-US 11 73610256 73610256 single base substitution G T missense_variant M99I 297G>T UCEC-US 11 73610256 73610256 single base substitution G T start_lost M1I 3G>T UCEC-US 11 73610256 73610256 single base substitution G T upstream_gene_variant UCEC-US 11 73610259 73610259 single base substitution A C 5_prime_UTR_variant UCEC-US 11 73610259 73610259 single base substitution A C exon_variant UCEC-US 11 73610259 73610259 single base substitution A C missense_variant K100N 300A>C UCEC-US 11 73610259 73610259 single base substitution A C missense_variant K117N 351A>C UCEC-US 11 73610259 73610259 single base substitution A C missense_variant K118N 354A>C UCEC-US 11 73610259 73610259 single base substitution A C missense_variant K2N 6A>C UCEC-US 11 73610259 73610259 single base substitution A C missense_variant K95N 285A>C UCEC-US 11 73610259 73610259 single base substitution A C upstream_gene_variant UCEC-US 11 73611329 73611329 single base substitution A T intron_variant UCEC-US 11 73611329 73611329 single base substitution A T synonymous_variant G110G 330A>T UCEC-US 11 73611329 73611329 single base substitution A T synonymous_variant G115G 345A>T UCEC-US 11 73611329 73611329 single base substitution A T synonymous_variant G132G 396A>T UCEC-US 11 73611329 73611329 single base substitution A T synonymous_variant G133G 399A>T UCEC-US 11 73611329 73611329 single base substitution A T synonymous_variant G17G 51A>T UCEC-US 11 73611329 73611329 single base substitution A T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CN-AML-NR-08-Dx COSM5425980 c.416G>C p.C139S Substitution - Missense 11:73900304-73900304 + BCM723T COSM4956324 c.458G>A p.G153E Substitution - Missense 11:73900346-73900346 + 8057680 COSM3383816 c.601C>T p.R201* Substitution - Nonsense 11:73909467-73909467 + TCGA-AZ-4315-01 COSM1356906 c.619C>T p.R207C Substitution - Missense 11:73909485-73909485 + TCGA-06-0648 COSM2151343 c.844G>A p.A282T Substitution - Missense 11:73916569-73916569 + TCGA-ER-A193-06 COSM3453198 c.695C>T p.S232F Substitution - Missense 11:73909561-73909561 + ML_89_T_01 COSM5037818 c.681T>G p.G227G Substitution - coding silent 11:73909547-73909547 + TCGA-D1-A101-01 COSM931831 c.488C>T p.A163V Substitution - Missense 11:73900376-73900376 + HCC60 COSM1605209 c.747A>G p.T249T Substitution - coding silent 11:73914432-73914432 + TCGA-BR-8680-01 COSM4036616 c.213T>C p.C71C Substitution - coding silent 11:73891132-73891132 + ESCC_34 COSM5628403 c.793T>G p.C265G Substitution - Missense 11:73914478-73914478 + MOLT-4 COSM1676291 c.1153C>T p.R385* Substitution - Nonsense 11:73927336-73927336 + CSCC-47-T COSM4563271 c.965G>A p.G322E Substitution - Missense 11:73918979-73918979 + TCGA-B0-5098-01 COSM1492665 c.346A>G p.M116V Substitution - Missense 11:73899209-73899209 + HCC60T COSM1605209 c.747A>G p.T249T Substitution - coding silent 11:73914432-73914432 + TCGA-IR-A3LK-01 COSM4816992 c.490G>T p.E164* Substitution - Nonsense 11:73900378-73900378 + 2492730 COSM2017124 c.157G>A p.A53T Substitution - Missense 11:73887422-73887422 + TCGA-DU-8166-01 COSM3967831 c.319G>T p.G107C Substitution - Missense 11:73899182-73899182 + YUMER COSM1704376 c.490G>A p.E164K Substitution - Missense 11:73900378-73900378 + HN_62505 COSM125096 c.79C>T p.H27Y Substitution - Missense 11:73878810-73878810 + RK040_C01 COSM3700143 c.265A>G p.R89G Substitution - Missense 11:73891184-73891184 + S00841 COSM317779 c.561G>T p.R187R Substitution - coding silent 11:73909427-73909427 + TCGA-FJ-A3ZE-01 COSM3791925 c.768G>C p.L256F Substitution - Missense 11:73914453-73914453 + ESCC_29 COSM5627437 c.617G>T p.G206V Substitution - Missense 11:73909483-73909483 + I2L-P31-Tumor-Organoid COSM241033 c.553G>A p.V185I Substitution - Missense 11:73909419-73909419 + TCGA-BP-4768-01 COSM3359393 c.694T>A p.S232T Substitution - Missense 11:73909560-73909560 + TCGA-FU-A40J-01 COSM4844013 c.902G>A p.G301E Substitution - Missense 11:73916627-73916627 + TCGA-EB-A431-01 COSM3453199 c.711C>T p.S237S Substitution - coding silent 11:73909577-73909577 + TCGA-BT-A20N-01 COSM415740 c.602G>A p.R201Q Substitution - Missense 11:73909468-73909468 + TCGA-BT-A20J-01 COSM415739 c.918G>A p.L306L Substitution - coding silent 11:73916643-73916643 + TCGA-BS-A0UF-01 COSM931828 c.348G>T p.M116I Substitution - Missense 11:73899211-73899211 + YUKAT COSM5373571 c.219G>A p.K73K Substitution - coding silent 11:73891138-73891138 + BN50 COSM1605209 c.747A>G p.T249T Substitution - coding silent 11:73914432-73914432 + I2L-P31-Tumor-Biopsy COSM241033 c.553G>A p.V185I Substitution - Missense 11:73909419-73909419 + TCGA-AA-A00N-01 COSM276583 c.156A>C p.T52T Substitution - coding silent 11:73887421-73887421 + TCGA-FR-A3YO-06 COSM3453202 c.1125C>T p.I375I Substitution - coding silent 11:73927308-73927308 + ESCC_41 COSM5629512 c.55G>T p.E19* Substitution - Nonsense 11:73878786-73878786 + TCGA-AX-A0J0-01 COSM931829 c.351A>C p.K117N Substitution - Missense 11:73899214-73899214 + B104-0 COSM1746565 c.283-1G>C p.? Unknown 11:73899145-73899145 + UM-SCC-17B COSM4598304 c.187A>G p.N63D Substitution - Missense 11:73887452-73887452 + LUAD-F00121 COSM365637 c.62A>T p.E21V Substitution - Missense 11:73878793-73878793 + TCGA-A8-A06Q-01 COSM429830 c.411G>A p.V137V Substitution - coding silent 11:73900299-73900299 + TCGA-66-2767-01 COSM690743 c.558T>A p.D186E Substitution - Missense 11:73909424-73909424 + LUAD-74TBW COSM354994 c.728-2A>T p.? Unknown 11:73914411-73914411 + CCK81 COSM2017146 c.966A>C p.G322G Substitution - coding silent 11:73918980-73918980 + CSCC-35-T COSM415739 c.918G>A p.L306L Substitution - coding silent 11:73916643-73916643 + PT48 COSM5932883 c.563G>A p.G188E Substitution - Missense 11:73909429-73909429 + TCGA-CG-5721-01 COSM4036618 c.1126T>C p.Y376H Substitution - Missense 11:73927309-73927309 + TCGA-D3-A3C7-06 COSM3453196 c.263C>T p.S88F Substitution - Missense 11:73891182-73891182 + TCGA-66-2793-01 COSM690741 c.1117A>C p.K373Q Substitution - Missense 11:73927300-73927300 + TCGA-BR-8487-01 COSM4036617 c.794G>A p.C265Y Substitution - Missense 11:73914479-73914479 + SC_9047 COSM5551345 c.211T>C p.C71R Substitution - Missense 11:73891130-73891130 + cSCCP6 COSM136850 c.640C>T p.L214F Substitution - Missense 11:73909506-73909506 + BCM723T COSM4956324 c.458G>A p.G153E Substitution - Missense 11:73900346-73900346 + TCGA-B5-A0JY-01 COSM931830 c.396A>T p.G132G Substitution - coding silent 11:73900284-73900284 + BN50T COSM1605209 c.747A>G p.T249T Substitution - coding silent 11:73914432-73914432 + ML_15_T_01 COSM5033698 c.942G>A p.P314P Substitution - coding silent 11:73918956-73918956 + TCGA-D5-6928-01 COSM1676291 c.1153C>T p.R385* Substitution - Nonsense 11:73927336-73927336 + CSCC-52-T COSM4517442 c.344_345CC>TT p.T115I Substitution - Missense 11:73899207-73899208 + TCGA-06-0648-01 COSM2151343 c.844G>A p.A282T Substitution - Missense 11:73916569-73916569 + T3225 COSM4710726 c.1156C>T p.R386C Substitution - Missense 11:73927339-73927339 + YUJUBE COSM5373572 c.895C>T p.Q299* Substitution - Nonsense 11:73916620-73916620 + PCSI_0171_Pa_P_526 COSM4964306 c.502T>G p.C168G Substitution - Missense 11:73900390-73900390 + KM12 COSM2017124 c.157G>A p.A53T Substitution - Missense 11:73887422-73887422 + Pat_54_A COSM5839580 c.362C>T p.A121V Substitution - Missense 11:73899225-73899225 + ESCC_4 COSM5622731 c.431C>A p.P144Q Substitution - Missense 11:73900319-73900319 + TCGA-BP-4989-01 COSM467397 c.1121A>T p.Q374L Substitution - Missense 11:73927304-73927304 + S00841 COSM317779 c.561G>T p.R187R Substitution - coding silent 11:73909427-73909427 + TCGA-EE-A2M6-06 COSM3453200 c.740T>C p.V247A Substitution - Missense 11:73914425-73914425 + WA14 COSM241033 c.553G>A p.V185I Substitution - Missense 11:73909419-73909419 + BD236T COSM5519072 c.276_277delAA p.K93fs*18 Deletion - Frameshift 11:73891195-73891196 + OSCC-GB_01240111 COSM5953675 c.193-10C>G p.? Unknown 11:73891102-73891102 + 91T COSM107019 c.430C>T p.P144S Substitution - Missense 11:73900318-73900318 + JEKO-1 COSM1739836 c.635G>C p.G212A Substitution - Missense 11:73909501-73909501 + TCGA-EE-A2MS-06 COSM3453201 c.825C>T p.F275F Substitution - coding silent 11:73916550-73916550 + PT46 COSM5929329 c.82C>T p.P28S Substitution - Missense 11:73878813-73878813 + TCGA-AG-A020-01 COSM290333 c.308_310delGAG p.G105delG Deletion - In frame 11:73899171-73899173 + pfg068T COSM4757435 c.451A>C p.S151R Substitution - Missense 11:73900339-73900339 + pfg001T COSM1638968 c.1027A>T p.S343C Substitution - Missense 11:73924623-73924623 + TCGA-A2-A0D2-01 COSM429831 c.930T>C p.S310S Substitution - coding silent 11:73916655-73916655 + TCGA-GF-A3OT-06 COSM3453197 c.537C>T p.I179I Substitution - coding silent 11:73909403-73909403 + CN-AML-08-T COSM5425980 c.416G>C p.C139S Substitution - Missense 11:73900304-73900304 + TCGA-29-2427-01 COSM72046 c.461T>A p.M154K Substitution - Missense 11:73900349-73900349 + BD224T COSM5508630 c.442G>A p.V148M Substitution - Missense 11:73900330-73900330 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.525015;Hs.525017 11q13.4

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K373Q c.1117A>C 11 73638345 LUSC A G IntronicSNV . c.89-3464A>G 11 73594935 HC A T Missense p.Q374L c.1121A>T 11 73638349 RCCC A T Missense p.S343C c.1027A>T 11 73635668 STAD ATTT - Frameshift p.Y304Sfs*4 c.909_912delTTAT 11 73627677 BRCA C A Missense p.P29T c.85C>A 11 73589861 CM C A Synonymous p.I118I c.354C>A 11 73610262 CM C G Missense p.S232C c.695C>G 11 73620606 BRCA C T Missense p.H27Y c.79C>T 11 73589855 HNSC C T Missense p.S232F c.695C>T 11 73620606 CM C T Missense p.S88F c.263C>T 11 73602227 CM C T Synonymous p.F275F c.825C>T 11 73627595 CM GAG - InFrameDeletion p.G105delG c.312_314delAGG 11 73610216 COREAD G A Missense p.A282T c.844G>A 11 73627614 GBM G A Missense p.G188R c.562G>A 11 73620473 HNSC G A Missense p.R201Q c.602G>A 11 73620513 BLCA G A Synonymous p.L306L c.918G>A 11 73627688 BLCA G A Synonymous p.V137V c.411G>A 11 73611344 BRCA G T Missense p.G107C c.319G>T 11 73610227 LGG G T Missense p.R271M c.812G>T 11 73625542 HNSC G T Missense p.R380L c.1139G>T 11 73638367 CM G T Synonymous p.A225A c.675G>T 11 73620586 LUAD G T Synonymous p.R187R c.561G>T 11 73620472 SCLC T A IntronicSNV . c.89-13T>A 11 73598386 CM T A Missense p.D186E c.558T>A 11 73620469 LUSC T A Missense p.M154K c.461T>A 11 73611394 OV T A Missense p.S232T c.694T>A 11 73620605 RCCC T C Missense p.V247A c.740T>C 11 73625470 CM T C Synonymous p.S310S c.930T>C 11 73627700 BRCA