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 3 179119064 179119064 + Silent SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr3:179119064T>C c.960A>G c.(958-960)gtA>gtG p.V320V BLCA 3 179123066 179123066 + Silent SNP T T C TCGA-FD-A5BV-01A-11D-A26M-08 TCGA-FD-A5BV-10A-01D-A26K-08 g.chr3:179123066T>C c.828A>G c.(826-828)gtA>gtG p.V276V BLCA 3 179123158 179123158 + Missense_Mutation SNP C C G TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr3:179123158C>G c.736G>C c.(736-738)Gat>Cat p.D246H BLCA 3 179131259 179131259 + Missense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 g.chr3:179131259G>C c.640C>G c.(640-642)Cga>Gga p.R214G BLCA 3 179137281 179137281 + Missense_Mutation SNP T T C TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr3:179137281T>C c.109A>G c.(109-111)Atg>Gtg p.M37V BLCA 3 179137286 179137286 + Nonsense_Mutation SNP G G C TCGA-BT-A42E-01A-11D-A23U-08 TCGA-BT-A42E-10A-01D-A23U-08 g.chr3:179137286G>C c.104C>G c.(103-105)tCa>tGa p.S35* COAD 3 179123007 179123007 + Missense_Mutation SNP A A G TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr3:179123007A>G c.887T>C c.(886-888)gTa>gCa p.V296A COAD 3 179131230 179131230 + Silent SNP C C T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr3:179131230C>T c.669G>A c.(667-669)acG>acA p.T223T COAD 3 179131385 179131385 + Missense_Mutation SNP C C T TCGA-CM-6168-01A-11D-1650-10 TCGA-CM-6168-10A-01D-1650-10 g.chr3:179131385C>T c.514G>A c.(514-516)Gaa>Aaa p.E172K COAD 3 179132694 179132694 + Nonsense_Mutation SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr3:179132694G>A c.409C>T c.(409-411)Cga>Tga p.R137* COAD 3 179132751 179132751 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:179132751C>T c.352G>A c.(352-354)Gac>Aac p.D118N COAD 3 179132784 179132784 + Missense_Mutation SNP G G A TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr3:179132784G>A c.319C>T c.(319-321)Ccc>Tcc p.P107S COAD 3 179134312 179134312 + Nonsense_Mutation SNP A A C TCGA-AA-3856-01A-01W-0900-09 TCGA-AA-3856-10A-01W-0900-09 g.chr3:179134312A>C c.236T>G c.(235-237)tTa>tGa p.L79* COAD 3 179137253 179137253 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:179137253C>T c.137G>A c.(136-138)cGa>cAa p.R46Q COAD 3 179143946 179143946 + Missense_Mutation SNP G G A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr3:179143946G>A c.43C>T c.(43-45)Cgg>Tgg p.R15W COADREAD 3 179123007 179123007 + Missense_Mutation SNP A A G TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr3:179123007A>G c.887T>C c.(886-888)gTa>gCa p.V296A COADREAD 3 179131230 179131230 + Silent SNP C C T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr3:179131230C>T c.669G>A c.(667-669)acG>acA p.T223T COADREAD 3 179131385 179131385 + Missense_Mutation SNP C C T TCGA-CM-6168-01A-11D-1650-10 TCGA-CM-6168-10A-01D-1650-10 g.chr3:179131385C>T c.514G>A c.(514-516)Gaa>Aaa p.E172K COADREAD 3 179132694 179132694 + Nonsense_Mutation SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr3:179132694G>A c.409C>T c.(409-411)Cga>Tga p.R137* COADREAD 3 179132751 179132751 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:179132751C>T c.352G>A c.(352-354)Gac>Aac p.D118N COADREAD 3 179132783 179132783 + Missense_Mutation SNP G G A TCGA-DC-6155-01A-11D-1657-10 TCGA-DC-6155-10A-01D-1657-10 g.chr3:179132783G>A c.320C>T c.(319-321)cCc>cTc p.P107L COADREAD 3 179132784 179132784 + Missense_Mutation SNP G G A TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr3:179132784G>A c.319C>T c.(319-321)Ccc>Tcc p.P107S COADREAD 3 179134312 179134312 + Nonsense_Mutation SNP A A C TCGA-AA-3856-01A-01W-0900-09 TCGA-AA-3856-10A-01W-0900-09 g.chr3:179134312A>C c.236T>G c.(235-237)tTa>tGa p.L79* COADREAD 3 179134313 179134313 + Silent SNP A A G TCGA-AG-3902-01A-01W-1073-09 TCGA-AG-3902-10A-01W-1073-09 g.chr3:179134313A>G c.235T>C c.(235-237)Tta>Cta p.L79L COADREAD 3 179137253 179137253 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:179137253C>T c.137G>A c.(136-138)cGa>cAa p.R46Q COADREAD 3 179143946 179143946 + Missense_Mutation SNP G G A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr3:179143946G>A c.43C>T c.(43-45)Cgg>Tgg p.R15W GBM 3 179137188 179137189 + Splice_Site INS - - G TCGA-12-0619-01A-01D-1492-08 TCGA-12-0619-10A-01D-1492-08 g.chr3:179137188_179137189insG c.201_202insC c.(199-204)tccagg>tccCagg p.R68fs GBMLGG 3 179137188 179137189 + Splice_Site INS - - G TCGA-12-0619-01A-01D-1492-08 TCGA-12-0619-10A-01D-1492-08 g.chr3:179137188_179137189insG c.201_202insC c.(199-204)tccagg>tccCagg p.R68fs HNSC 3 179123134 179123134 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr3:179123134C>G c.760G>C c.(760-762)Gac>Cac p.D254H HNSC 3 179138709 179138709 + Missense_Mutation SNP G G A TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 g.chr3:179138709G>A c.64C>T c.(64-66)Cgg>Tgg p.R22W LIHC 3 179119095 179119095 + Missense_Mutation SNP C C G TCGA-DD-A3A9-01A-11D-A25V-10 TCGA-DD-A3A9-11A-11D-A25V-10 g.chr3:179119095C>G c.929G>C c.(928-930)gGt>gCt p.G310A LIHC 3 179131380 179131380 + Silent SNP A A C TCGA-3K-AAZ8-01A-12D-A38X-10 TCGA-3K-AAZ8-10A-01D-A38X-10 g.chr3:179131380A>C c.519T>G c.(517-519)acT>acG p.T173T LUAD 3 179119024 179119024 + Missense_Mutation SNP T T A TCGA-55-A491-01A-11D-A24D-08 TCGA-55-A491-10A-01D-A24F-08 g.chr3:179119024T>A c.1000A>T c.(1000-1002)Agt>Tgt p.S334C LUAD 3 179131212 179131212 + Silent SNP G G A TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chr3:179131212G>A c.687C>T c.(685-687)atC>atT p.I229I LUAD 3 179132738 179132738 + Missense_Mutation SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 g.chr3:179132738G>C c.365C>G c.(364-366)tCt>tGt p.S122C LUAD 3 179132828 179132828 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr3:179132828G>T c.275C>A c.(274-276)gCt>gAt p.A92D LUAD 3 179138686 179138686 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr3:179138686C>T c.87G>A c.(85-87)acG>acA p.T29T LUSC 3 179119032 179119032 + Missense_Mutation SNP G G T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 g.chr3:179119032G>T c.992C>A c.(991-993)tCt>tAt p.S331Y LUSC 3 179123052 179123052 + Missense_Mutation SNP C C A TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 g.chr3:179123052C>A c.842G>T c.(841-843)aGt>aTt p.S281I LUSC 3 179131506 179131506 + Missense_Mutation SNP G G A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr3:179131506G>A c.494C>T c.(493-495)aCt>aTt p.T165I OV 3 179134325 179134325 + Missense_Mutation SNP G G T TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 g.chr3:179134325G>T c.223C>A c.(223-225)Caa>Aaa p.Q75K PAAD 3 179123034 179123034 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:179123034G>A c.860C>T c.(859-861)gCt>gTt p.A287V PRAD 3 179131318 179131318 + Missense_Mutation SNP G G T TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr3:179131318G>T c.581C>A c.(580-582)cCt>cAt p.P194H READ 3 179132783 179132783 + Missense_Mutation SNP G G A TCGA-DC-6155-01A-11D-1657-10 TCGA-DC-6155-10A-01D-1657-10 g.chr3:179132783G>A c.320C>T c.(319-321)cCc>cTc p.P107L READ 3 179134313 179134313 + Silent SNP A A G TCGA-AG-3902-01A-01W-1073-09 TCGA-AG-3902-10A-01W-1073-09 g.chr3:179134313A>G c.235T>C c.(235-237)Tta>Cta p.L79L SKCM 3 179123136 179123136 + Missense_Mutation SNP A A C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr3:179123136A>C c.758T>G c.(757-759)tTt>tGt p.F253C SKCM 3 179131545 179131545 + Missense_Mutation SNP A A G TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr3:179131545A>G c.455T>C c.(454-456)tTa>tCa p.L152S SKCM 3 179132722 179132722 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr3:179132722C>T c.381G>A c.(379-381)aaG>aaA p.K127K SKCM 3 179137190 179137190 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr3:179137190G>A c.200C>T c.(199-201)tCc>tTc p.S67F SKCM 3 179137274 179137274 + Missense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 g.chr3:179137274G>A c.116C>T c.(115-117)tCt>tTt p.S39F

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 3 179119064 179119064 single base substitution T C 3_prime_UTR_variant BLCA-US 3 179119064 179119064 single base substitution T C synonymous_variant V320V 960A>G BLCA-US 3 179131259 179131259 single base substitution G C downstream_gene_variant BLCA-US 3 179131259 179131259 single base substitution G C exon_variant BLCA-US 3 179131259 179131259 single base substitution G C missense_variant R136G 406C>G BLCA-US 3 179131259 179131259 single base substitution G C missense_variant R214G 640C>G BRCA-EU 3 179112255 179112255 single base substitution G C downstream_gene_variant BRCA-EU 3 179113142 179113142 single base substitution A G downstream_gene_variant BRCA-EU 3 179113347 179113347 single base substitution A G downstream_gene_variant BRCA-EU 3 179113709 179113709 single base substitution C T downstream_gene_variant BRCA-EU 3 179114401 179114401 deletion of <=200bp C - downstream_gene_variant BRCA-EU 3 179115108 179115108 single base substitution T C downstream_gene_variant BRCA-EU 3 179116068 179116068 single base substitution T C downstream_gene_variant BRCA-EU 3 179118184 179118184 single base substitution A T 3_prime_UTR_variant BRCA-EU 3 179118184 179118184 single base substitution A T downstream_gene_variant BRCA-EU 3 179118847 179118847 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 3 179118847 179118847 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 179121088 179121088 single base substitution G A intron_variant BRCA-EU 3 179122069 179122069 single base substitution T A intron_variant BRCA-EU 3 179122713 179122713 single base substitution C G intron_variant BRCA-EU 3 179123198 179123198 single base substitution G T downstream_gene_variant BRCA-EU 3 179123198 179123198 single base substitution G T intron_variant BRCA-EU 3 179123198 179123198 single base substitution G T splice_region_variant BRCA-EU 3 179123482 179123482 single base substitution A G downstream_gene_variant BRCA-EU 3 179123482 179123482 single base substitution A G intron_variant BRCA-EU 3 179123524 179123524 single base substitution T G downstream_gene_variant BRCA-EU 3 179123524 179123524 single base substitution T G intron_variant BRCA-EU 3 179125488 179125488 single base substitution T C downstream_gene_variant BRCA-EU 3 179125488 179125488 single base substitution T C intron_variant BRCA-EU 3 179125644 179125644 single base substitution G A downstream_gene_variant BRCA-EU 3 179125644 179125644 single base substitution G A intron_variant BRCA-EU 3 179125740 179125740 single base substitution T A downstream_gene_variant BRCA-EU 3 179125740 179125740 single base substitution T A intron_variant BRCA-EU 3 179125751 179125751 single base substitution G A downstream_gene_variant BRCA-EU 3 179125751 179125751 single base substitution G A intron_variant BRCA-EU 3 179126506 179126506 single base substitution G A downstream_gene_variant BRCA-EU 3 179126506 179126506 single base substitution G A intron_variant BRCA-EU 3 179126786 179126786 single base substitution G A downstream_gene_variant BRCA-EU 3 179126786 179126786 single base substitution G A intron_variant BRCA-EU 3 179128282 179128282 single base substitution G A exon_variant BRCA-EU 3 179128282 179128282 single base substitution G A intron_variant BRCA-EU 3 179129749 179129749 single base substitution C T downstream_gene_variant BRCA-EU 3 179129749 179129749 single base substitution C T intron_variant BRCA-EU 3 179131306 179131306 single base substitution G C downstream_gene_variant BRCA-EU 3 179131306 179131306 single base substitution G C exon_variant BRCA-EU 3 179131306 179131306 single base substitution G C missense_variant T120S 359C>G BRCA-EU 3 179131306 179131306 single base substitution G C missense_variant T198S 593C>G BRCA-EU 3 179132543 179132543 single base substitution A G downstream_gene_variant BRCA-EU 3 179132543 179132543 single base substitution A G intron_variant BRCA-EU 3 179132543 179132543 single base substitution A G upstream_gene_variant BRCA-EU 3 179133535 179133535 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 179133535 179133535 deletion of <=200bp T - intron_variant BRCA-EU 3 179133535 179133535 deletion of <=200bp T - upstream_gene_variant BRCA-EU 3 179134053 179134053 single base substitution C T downstream_gene_variant BRCA-EU 3 179134053 179134053 single base substitution C T intron_variant BRCA-EU 3 179134053 179134053 single base substitution C T upstream_gene_variant BRCA-EU 3 179134992 179134992 single base substitution G A intron_variant BRCA-EU 3 179134992 179134992 single base substitution G A upstream_gene_variant BRCA-EU 3 179135679 179135679 single base substitution A G intron_variant BRCA-EU 3 179135679 179135679 single base substitution A G upstream_gene_variant BRCA-EU 3 179137080 179137080 single base substitution G A intron_variant BRCA-EU 3 179137080 179137080 single base substitution G A upstream_gene_variant BRCA-EU 3 179139752 179139752 single base substitution T G intron_variant BRCA-EU 3 179140054 179140054 single base substitution A G intron_variant BRCA-EU 3 179140253 179140253 single base substitution A G intron_variant BRCA-EU 3 179140978 179140978 single base substitution T C intron_variant BRCA-EU 3 179142977 179142977 single base substitution G C intron_variant BRCA-EU 3 179144175 179144175 single base substitution A C intron_variant BRCA-EU 3 179144485 179144485 single base substitution C A intron_variant BRCA-EU 3 179144974 179144974 single base substitution C T intron_variant BRCA-EU 3 179145492 179145492 single base substitution C G intron_variant BRCA-EU 3 179145830 179145830 single base substitution G C intron_variant BRCA-EU 3 179146520 179146520 single base substitution A C intron_variant BRCA-EU 3 179147185 179147185 single base substitution C G intron_variant BRCA-EU 3 179147830 179147830 single base substitution C T intron_variant BRCA-EU 3 179148498 179148498 single base substitution G A intron_variant BRCA-EU 3 179148710 179148710 deletion of <=200bp T - intron_variant BRCA-EU 3 179148885 179148885 single base substitution A C intron_variant BRCA-EU 3 179149362 179149362 single base substitution G C intron_variant BRCA-EU 3 179149975 179149975 single base substitution G C intron_variant BRCA-EU 3 179151387 179151387 single base substitution G C intron_variant BRCA-EU 3 179151517 179151517 single base substitution G T intron_variant BRCA-EU 3 179151540 179151540 single base substitution A C intron_variant BRCA-EU 3 179151638 179151638 single base substitution T G intron_variant BRCA-EU 3 179153071 179153071 single base substitution C G intron_variant BRCA-EU 3 179154385 179154385 deletion of <=200bp T - intron_variant BRCA-EU 3 179155602 179155602 deletion of <=200bp C - 5_prime_UTR_variant BRCA-EU 3 179155602 179155602 deletion of <=200bp C - intron_variant BRCA-EU 3 179156018 179156018 single base substitution G C intron_variant BRCA-EU 3 179157402 179157402 single base substitution C G intron_variant BRCA-EU 3 179157482 179157482 single base substitution A T intron_variant BRCA-EU 3 179159437 179159437 single base substitution G A intron_variant BRCA-EU 3 179160355 179160355 deletion of <=200bp T - intron_variant BRCA-EU 3 179160438 179160438 single base substitution C T intron_variant BRCA-EU 3 179160596 179160596 single base substitution T A intron_variant BRCA-EU 3 179160713 179160713 single base substitution C T intron_variant BRCA-EU 3 179161657 179161657 single base substitution G A intron_variant BRCA-EU 3 179161839 179161839 single base substitution A G intron_variant BRCA-EU 3 179161990 179161990 single base substitution C T intron_variant BRCA-EU 3 179162014 179162014 deletion of <=200bp T - intron_variant BRCA-EU 3 179162617 179162617 single base substitution T C intron_variant BRCA-EU 3 179163248 179163248 deletion of <=200bp T - intron_variant BRCA-EU 3 179163260 179163260 single base substitution G C intron_variant BRCA-EU 3 179163757 179163757 single base substitution C A intron_variant BRCA-EU 3 179164316 179164316 single base substitution C A intron_variant BRCA-EU 3 179164316 179164316 single base substitution C G intron_variant BRCA-EU 3 179164376 179164376 deletion of <=200bp T - intron_variant BRCA-EU 3 179164540 179164540 single base substitution C G intron_variant BRCA-EU 3 179165002 179165002 single base substitution G C intron_variant BRCA-EU 3 179165444 179165444 single base substitution C T intron_variant BRCA-EU 3 179165951 179165951 single base substitution T G intron_variant BRCA-EU 3 179167239 179167239 single base substitution G T intron_variant BRCA-EU 3 179167847 179167847 single base substitution T A intron_variant BRCA-EU 3 179168466 179168466 single base substitution C G intron_variant BRCA-EU 3 179169303 179169303 single base substitution A G 5_prime_UTR_variant BRCA-EU 3 179169303 179169303 single base substitution A G upstream_gene_variant BRCA-EU 3 179172959 179172959 single base substitution T C upstream_gene_variant BRCA-FR 3 179113642 179113642 single base substitution C A downstream_gene_variant BRCA-FR 3 179122713 179122713 single base substitution C G intron_variant BRCA-FR 3 179134053 179134053 single base substitution C T downstream_gene_variant BRCA-FR 3 179134053 179134053 single base substitution C T intron_variant BRCA-FR 3 179134053 179134053 single base substitution C T upstream_gene_variant BRCA-FR 3 179145492 179145492 single base substitution C G intron_variant BRCA-FR 3 179147185 179147185 single base substitution C G intron_variant BRCA-FR 3 179148498 179148498 single base substitution G A intron_variant BRCA-FR 3 179164316 179164316 single base substitution C G intron_variant BRCA-FR 3 179164540 179164540 single base substitution C G intron_variant BTCA-JP 3 179119050 179119050 single base substitution A T 3_prime_UTR_variant BTCA-JP 3 179119050 179119050 single base substitution A T missense_variant M325K 974T>A BTCA-JP 3 179131594 179131594 single base substitution T G downstream_gene_variant BTCA-JP 3 179131594 179131594 single base substitution T G intron_variant BTCA-JP 3 179131594 179131594 single base substitution T G upstream_gene_variant CLLE-ES 3 179117005 179117005 single base substitution A G 3_prime_UTR_variant CLLE-ES 3 179117005 179117005 single base substitution A G downstream_gene_variant CLLE-ES 3 179158631 179158631 single base substitution G A intron_variant CLLE-ES 3 179161650 179161650 single base substitution T C intron_variant COAD-US 3 179123007 179123007 single base substitution A G intron_variant COAD-US 3 179123007 179123007 single base substitution A G missense_variant V296A 887T>C COAD-US 3 179123152 179123152 single base substitution C T downstream_gene_variant COAD-US 3 179123152 179123152 single base substitution C T intron_variant COAD-US 3 179123152 179123152 single base substitution C T missense_variant A248T 742G>A COAD-US 3 179131230 179131230 single base substitution C T downstream_gene_variant COAD-US 3 179131230 179131230 single base substitution C T exon_variant COAD-US 3 179131230 179131230 single base substitution C T synonymous_variant T145T 435G>A COAD-US 3 179131230 179131230 single base substitution C T synonymous_variant T223T 669G>A COAD-US 3 179131385 179131385 single base substitution C T downstream_gene_variant COAD-US 3 179131385 179131385 single base substitution C T exon_variant COAD-US 3 179131385 179131385 single base substitution C T missense_variant E172K 514G>A COAD-US 3 179131385 179131385 single base substitution C T missense_variant E94K 280G>A COAD-US 3 179132694 179132694 single base substitution G A downstream_gene_variant COAD-US 3 179132694 179132694 single base substitution G A stop_gained R137* 409C>T COAD-US 3 179132694 179132694 single base substitution G A stop_gained R59* 175C>T COAD-US 3 179132694 179132694 single base substitution G A upstream_gene_variant COAD-US 3 179137253 179137253 single base substitution C T missense_variant R46Q 137G>A COAD-US 3 179137253 179137253 single base substitution C T upstream_gene_variant COCA-CN 3 179131327 179131327 single base substitution G T downstream_gene_variant COCA-CN 3 179131327 179131327 single base substitution G T exon_variant COCA-CN 3 179131327 179131327 single base substitution G T missense_variant S113Y 338C>A COCA-CN 3 179131327 179131327 single base substitution G T missense_variant S191Y 572C>A COCA-CN 3 179132542 179132542 single base substitution C A downstream_gene_variant COCA-CN 3 179132542 179132542 single base substitution C A intron_variant COCA-CN 3 179132542 179132542 single base substitution C A upstream_gene_variant COCA-CN 3 179138649 179138649 single base substitution A G intron_variant COCA-CN 3 179138649 179138649 single base substitution A G upstream_gene_variant COCA-CN 3 179143998 179143998 single base substitution T G 5_prime_UTR_variant EOPC-DE 3 179151445 179151445 single base substitution C A intron_variant ESAD-UK 3 179113857 179113857 single base substitution A T downstream_gene_variant ESAD-UK 3 179114629 179114629 single base substitution A G downstream_gene_variant ESAD-UK 3 179114773 179114773 single base substitution T C downstream_gene_variant ESAD-UK 3 179115406 179115406 single base substitution A G downstream_gene_variant ESAD-UK 3 179119779 179119779 single base substitution G T intron_variant ESAD-UK 3 179119956 179119956 deletion of <=200bp A - intron_variant ESAD-UK 3 179121505 179121505 single base substitution G A intron_variant ESAD-UK 3 179122118 179122118 single base substitution A C intron_variant ESAD-UK 3 179124337 179124337 single base substitution T C downstream_gene_variant ESAD-UK 3 179124337 179124337 single base substitution T C intron_variant ESAD-UK 3 179125999 179125999 single base substitution A G downstream_gene_variant ESAD-UK 3 179125999 179125999 single base substitution A G intron_variant ESAD-UK 3 179126031 179126031 single base substitution G T downstream_gene_variant ESAD-UK 3 179126031 179126031 single base substitution G T intron_variant ESAD-UK 3 179128962 179128962 single base substitution G A intron_variant ESAD-UK 3 179129482 179129482 single base substitution A T downstream_gene_variant ESAD-UK 3 179129482 179129482 single base substitution A T intron_variant ESAD-UK 3 179132893 179132893 single base substitution A C downstream_gene_variant ESAD-UK 3 179132893 179132893 single base substitution A C intron_variant ESAD-UK 3 179132893 179132893 single base substitution A C upstream_gene_variant ESAD-UK 3 179133842 179133842 single base substitution G A downstream_gene_variant ESAD-UK 3 179133842 179133842 single base substitution G A intron_variant ESAD-UK 3 179133842 179133842 single base substitution G A upstream_gene_variant ESAD-UK 3 179134336 179134336 single base substitution A T missense_variant V71D 212T>A ESAD-UK 3 179134336 179134336 single base substitution A T upstream_gene_variant ESAD-UK 3 179135176 179135176 single base substitution T G intron_variant ESAD-UK 3 179135176 179135176 single base substitution T G upstream_gene_variant ESAD-UK 3 179135320 179135320 single base substitution C A intron_variant ESAD-UK 3 179135320 179135320 single base substitution C A upstream_gene_variant ESAD-UK 3 179135570 179135570 single base substitution C T intron_variant ESAD-UK 3 179135570 179135570 single base substitution C T upstream_gene_variant ESAD-UK 3 179136174 179136174 single base substitution C G intron_variant ESAD-UK 3 179136174 179136174 single base substitution C G upstream_gene_variant ESAD-UK 3 179136226 179136226 single base substitution C T intron_variant ESAD-UK 3 179136226 179136226 single base substitution C T upstream_gene_variant ESAD-UK 3 179136728 179136728 single base substitution G A intron_variant ESAD-UK 3 179136728 179136728 single base substitution G A upstream_gene_variant ESAD-UK 3 179140745 179140745 deletion of <=200bp T - intron_variant ESAD-UK 3 179140995 179140995 single base substitution G C intron_variant ESAD-UK 3 179141129 179141129 single base substitution A G intron_variant ESAD-UK 3 179141599 179141599 single base substitution A C intron_variant ESAD-UK 3 179141769 179141769 single base substitution G A intron_variant ESAD-UK 3 179141925 179141925 single base substitution C A intron_variant ESAD-UK 3 179143352 179143352 single base substitution G T intron_variant ESAD-UK 3 179143801 179143801 single base substitution G A intron_variant ESAD-UK 3 179144635 179144635 single base substitution G A intron_variant ESAD-UK 3 179146712 179146712 single base substitution T C intron_variant ESAD-UK 3 179147450 179147450 single base substitution C G intron_variant ESAD-UK 3 179148046 179148046 insertion of <=200bp - T intron_variant ESAD-UK 3 179148713 179148713 single base substitution T C intron_variant ESAD-UK 3 179149600 179149600 single base substitution A C intron_variant ESAD-UK 3 179150073 179150073 single base substitution C A intron_variant ESAD-UK 3 179150523 179150523 single base substitution C G intron_variant ESAD-UK 3 179151248 179151248 single base substitution G T intron_variant ESAD-UK 3 179152121 179152121 deletion of <=200bp A - intron_variant ESAD-UK 3 179152335 179152335 single base substitution C T intron_variant ESAD-UK 3 179152841 179152841 single base substitution G A intron_variant ESAD-UK 3 179152920 179152920 single base substitution G T intron_variant ESAD-UK 3 179153143 179153143 single base substitution A G intron_variant ESAD-UK 3 179155278 179155278 single base substitution G A intron_variant ESAD-UK 3 179156361 179156361 single base substitution G T intron_variant ESAD-UK 3 179157824 179157824 single base substitution A C intron_variant ESAD-UK 3 179160320 179160320 single base substitution T G intron_variant ESAD-UK 3 179162239 179162239 single base substitution C T intron_variant ESAD-UK 3 179162786 179162786 single base substitution A T intron_variant ESAD-UK 3 179162799 179162799 single base substitution A C intron_variant ESAD-UK 3 179162952 179162952 single base substitution G A intron_variant ESAD-UK 3 179164376 179164376 insertion of <=200bp - T intron_variant ESAD-UK 3 179164876 179164876 single base substitution G A intron_variant ESAD-UK 3 179165526 179165526 single base substitution T G intron_variant ESAD-UK 3 179166083 179166083 single base substitution G A intron_variant ESAD-UK 3 179166764 179166764 single base substitution G T intron_variant ESAD-UK 3 179167085 179167085 single base substitution G A intron_variant ESAD-UK 3 179168395 179168395 single base substitution C T intron_variant ESAD-UK 3 179168827 179168827 single base substitution G T 5_prime_UTR_variant ESAD-UK 3 179168827 179168827 single base substitution G T intron_variant ESAD-UK 3 179169332 179169332 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 3 179169332 179169332 single base substitution G A upstream_gene_variant ESAD-UK 3 179170690 179170690 single base substitution G A upstream_gene_variant ESAD-UK 3 179170923 179170923 insertion of <=200bp - T upstream_gene_variant ESAD-UK 3 179171074 179171074 single base substitution G A upstream_gene_variant ESAD-UK 3 179173499 179173499 single base substitution T G upstream_gene_variant ESCA-CN 3 179131231 179131231 single base substitution G A downstream_gene_variant ESCA-CN 3 179131231 179131231 single base substitution G A exon_variant ESCA-CN 3 179131231 179131231 single base substitution G A missense_variant T145M 434C>T ESCA-CN 3 179131231 179131231 single base substitution G A missense_variant T223M 668C>T ESCA-CN 3 179144111 179144111 single base substitution T G intron_variant GBM-US 3 179137188 179137188 insertion of <=200bp - G frameshift_variant R68T? GBM-US 3 179137188 179137188 insertion of <=200bp - G upstream_gene_variant LICA-CN 3 179119030 179119030 single base substitution A T 3_prime_UTR_variant LICA-CN 3 179119030 179119030 single base substitution A T missense_variant W332R 994T>A LICA-FR 3 179115729 179115729 single base substitution G C downstream_gene_variant LICA-FR 3 179159540 179159540 deletion of <=200bp A - intron_variant LICA-FR 3 179162212 179162212 deletion of <=200bp T - intron_variant LICA-FR 3 179164345 179164345 single base substitution G T intron_variant LICA-FR 3 179166488 179166488 single base substitution T C intron_variant LIHC-US 3 179119095 179119095 single base substitution C G missense_variant G310A 929G>C LIHC-US 3 179119095 179119095 single base substitution C G missense_variant V160L 478G>C LINC-JP 3 179118397 179118397 single base substitution A T 3_prime_UTR_variant LINC-JP 3 179118397 179118397 single base substitution A T downstream_gene_variant LINC-JP 3 179134164 179134164 single base substitution A C downstream_gene_variant LINC-JP 3 179134164 179134164 single base substitution A C intron_variant LINC-JP 3 179134164 179134164 single base substitution A C upstream_gene_variant LINC-JP 3 179134237 179134237 single base substitution A G downstream_gene_variant LINC-JP 3 179134237 179134237 single base substitution A G intron_variant LINC-JP 3 179134237 179134237 single base substitution A G upstream_gene_variant LINC-JP 3 179135368 179135368 single base substitution A G intron_variant LINC-JP 3 179135368 179135368 single base substitution A G upstream_gene_variant LINC-JP 3 179138882 179138882 single base substitution A T intron_variant LINC-JP 3 179138882 179138882 single base substitution A T upstream_gene_variant LINC-JP 3 179149325 179149325 single base substitution T G intron_variant LINC-JP 3 179170297 179170297 single base substitution T C upstream_gene_variant LIRI-JP 3 179113140 179113140 single base substitution G T downstream_gene_variant LIRI-JP 3 179113312 179113312 single base substitution A G downstream_gene_variant LIRI-JP 3 179114187 179114187 single base substitution A G downstream_gene_variant LIRI-JP 3 179114189 179114189 single base substitution A G downstream_gene_variant LIRI-JP 3 179114843 179114843 single base substitution A G downstream_gene_variant LIRI-JP 3 179115980 179115980 single base substitution A G downstream_gene_variant LIRI-JP 3 179117178 179117178 single base substitution A G 3_prime_UTR_variant LIRI-JP 3 179117178 179117178 single base substitution A G downstream_gene_variant LIRI-JP 3 179118695 179118695 single base substitution G A 3_prime_UTR_variant LIRI-JP 3 179118695 179118695 single base substitution G A downstream_gene_variant LIRI-JP 3 179118830 179118830 single base substitution T A 3_prime_UTR_variant LIRI-JP 3 179118830 179118830 single base substitution T A downstream_gene_variant LIRI-JP 3 179123660 179123660 single base substitution A G downstream_gene_variant LIRI-JP 3 179123660 179123660 single base substitution A G intron_variant LIRI-JP 3 179123901 179123901 single base substitution T G downstream_gene_variant LIRI-JP 3 179123901 179123901 single base substitution T G intron_variant LIRI-JP 3 179124465 179124465 single base substitution A G downstream_gene_variant LIRI-JP 3 179124465 179124465 single base substitution A G intron_variant LIRI-JP 3 179125380 179125380 single base substitution C A downstream_gene_variant LIRI-JP 3 179125380 179125380 single base substitution C A intron_variant LIRI-JP 3 179125604 179125604 single base substitution A G downstream_gene_variant LIRI-JP 3 179125604 179125604 single base substitution A G intron_variant LIRI-JP 3 179125964 179125964 single base substitution C T downstream_gene_variant LIRI-JP 3 179125964 179125964 single base substitution C T intron_variant LIRI-JP 3 179128730 179128730 single base substitution A G intron_variant LIRI-JP 3 179131524 179131524 single base substitution G C downstream_gene_variant LIRI-JP 3 179131524 179131524 single base substitution G C missense_variant T159R 476C>G LIRI-JP 3 179131524 179131524 single base substitution G C missense_variant T81R 242C>G LIRI-JP 3 179131524 179131524 single base substitution G C upstream_gene_variant LIRI-JP 3 179134484 179134484 single base substitution C G intron_variant LIRI-JP 3 179134484 179134484 single base substitution C G upstream_gene_variant LIRI-JP 3 179137549 179137549 single base substitution A G intron_variant LIRI-JP 3 179137549 179137549 single base substitution A G upstream_gene_variant LIRI-JP 3 179137806 179137806 single base substitution A G intron_variant LIRI-JP 3 179137806 179137806 single base substitution A G upstream_gene_variant LIRI-JP 3 179140063 179140063 single base substitution T C intron_variant LIRI-JP 3 179144222 179144222 single base substitution A G intron_variant LIRI-JP 3 179147070 179147070 single base substitution G A intron_variant LIRI-JP 3 179150650 179150650 single base substitution T C intron_variant LIRI-JP 3 179152221 179152221 single base substitution A G intron_variant LIRI-JP 3 179154302 179154302 single base substitution T A intron_variant LIRI-JP 3 179155759 179155759 single base substitution T C intron_variant LIRI-JP 3 179156704 179156704 single base substitution C A intron_variant LIRI-JP 3 179156771 179156771 single base substitution T C intron_variant LIRI-JP 3 179158773 179158773 single base substitution G T intron_variant LIRI-JP 3 179160307 179160307 single base substitution A C intron_variant LIRI-JP 3 179161695 179161695 single base substitution G A intron_variant LIRI-JP 3 179161977 179161978 deletion of <=200bp TA - intron_variant LIRI-JP 3 179162098 179162098 single base substitution C T intron_variant LIRI-JP 3 179162579 179162579 single base substitution A T intron_variant LIRI-JP 3 179163424 179163424 single base substitution C T intron_variant LIRI-JP 3 179163456 179163456 single base substitution A G intron_variant LIRI-JP 3 179163536 179163536 single base substitution A G intron_variant LIRI-JP 3 179164463 179164463 single base substitution A T intron_variant LIRI-JP 3 179164509 179164509 single base substitution A G intron_variant LIRI-JP 3 179166044 179166044 single base substitution C T intron_variant LIRI-JP 3 179171442 179171442 single base substitution C T upstream_gene_variant LIRI-JP 3 179172008 179172008 single base substitution T C upstream_gene_variant LIRI-JP 3 179173163 179173163 single base substitution A G upstream_gene_variant LIRI-JP 3 179173979 179173979 single base substitution A G upstream_gene_variant LIRI-JP 3 179174275 179174275 single base substitution T A upstream_gene_variant LUSC-KR 3 179113820 179113820 single base substitution G T downstream_gene_variant LUSC-KR 3 179114889 179114889 single base substitution G A downstream_gene_variant LUSC-KR 3 179115380 179115380 single base substitution C T downstream_gene_variant LUSC-KR 3 179115649 179115649 single base substitution G A downstream_gene_variant LUSC-KR 3 179118397 179118397 single base substitution A C 3_prime_UTR_variant LUSC-KR 3 179118397 179118397 single base substitution A C downstream_gene_variant LUSC-KR 3 179118689 179118689 single base substitution C T 3_prime_UTR_variant LUSC-KR 3 179118689 179118689 single base substitution C T downstream_gene_variant LUSC-KR 3 179118704 179118704 single base substitution T G 3_prime_UTR_variant LUSC-KR 3 179118704 179118704 single base substitution T G downstream_gene_variant LUSC-KR 3 179118998 179118998 single base substitution C T 3_prime_UTR_variant LUSC-KR 3 179121016 179121016 single base substitution C T intron_variant LUSC-KR 3 179122350 179122350 single base substitution G T intron_variant LUSC-KR 3 179122783 179122783 single base substitution T C intron_variant LUSC-KR 3 179123291 179123291 single base substitution G T downstream_gene_variant LUSC-KR 3 179123291 179123291 single base substitution G T intron_variant LUSC-KR 3 179127834 179127834 single base substitution C T downstream_gene_variant LUSC-KR 3 179127834 179127834 single base substitution C T intron_variant LUSC-KR 3 179128343 179128343 single base substitution C T exon_variant LUSC-KR 3 179128343 179128343 single base substitution C T intron_variant LUSC-KR 3 179131868 179131868 single base substitution A G downstream_gene_variant LUSC-KR 3 179131868 179131868 single base substitution A G intron_variant LUSC-KR 3 179131868 179131868 single base substitution A G upstream_gene_variant LUSC-KR 3 179131987 179131987 single base substitution A T downstream_gene_variant LUSC-KR 3 179131987 179131987 single base substitution A T intron_variant LUSC-KR 3 179131987 179131987 single base substitution A T upstream_gene_variant LUSC-KR 3 179134432 179134432 single base substitution C T intron_variant LUSC-KR 3 179134432 179134432 single base substitution C T upstream_gene_variant LUSC-KR 3 179135534 179135534 single base substitution C G intron_variant LUSC-KR 3 179135534 179135534 single base substitution C G upstream_gene_variant LUSC-KR 3 179137097 179137097 single base substitution T A intron_variant LUSC-KR 3 179137097 179137097 single base substitution T A upstream_gene_variant LUSC-KR 3 179137273 179137273 single base substitution A G synonymous_variant S39S 117T>C LUSC-KR 3 179137273 179137273 single base substitution A G upstream_gene_variant LUSC-KR 3 179140175 179140175 single base substitution G A intron_variant LUSC-KR 3 179141466 179141466 single base substitution C T intron_variant LUSC-KR 3 179142428 179142428 single base substitution C G intron_variant LUSC-KR 3 179142450 179142450 single base substitution T A intron_variant LUSC-KR 3 179142517 179142517 single base substitution C A intron_variant LUSC-KR 3 179149329 179149329 single base substitution G A intron_variant LUSC-KR 3 179150093 179150093 single base substitution T C intron_variant LUSC-KR 3 179150127 179150127 single base substitution T A intron_variant LUSC-KR 3 179153358 179153358 single base substitution C G intron_variant LUSC-KR 3 179161670 179161670 single base substitution C G intron_variant LUSC-KR 3 179163221 179163221 single base substitution C T intron_variant LUSC-KR 3 179164988 179164988 single base substitution C A intron_variant LUSC-KR 3 179168047 179168047 single base substitution A T intron_variant LUSC-KR 3 179169291 179169291 single base substitution G C 5_prime_UTR_variant LUSC-KR 3 179169291 179169291 single base substitution G C upstream_gene_variant LUSC-KR 3 179169420 179169420 single base substitution G A upstream_gene_variant LUSC-KR 3 179171005 179171005 single base substitution G C upstream_gene_variant LUSC-KR 3 179172091 179172091 single base substitution A G upstream_gene_variant LUSC-KR 3 179173138 179173138 single base substitution A T upstream_gene_variant LUSC-US 3 179119032 179119032 single base substitution G T 3_prime_UTR_variant LUSC-US 3 179119032 179119032 single base substitution G T missense_variant S331Y 992C>A LUSC-US 3 179123052 179123052 single base substitution C A intron_variant LUSC-US 3 179123052 179123052 single base substitution C A missense_variant S281I 842G>T LUSC-US 3 179131506 179131506 single base substitution G A downstream_gene_variant LUSC-US 3 179131506 179131506 single base substitution G A exon_variant LUSC-US 3 179131506 179131506 single base substitution G A missense_variant T165I 494C>T LUSC-US 3 179131506 179131506 single base substitution G A missense_variant T87I 260C>T MALY-DE 3 179131118 179131118 single base substitution G A downstream_gene_variant MALY-DE 3 179131118 179131118 single base substitution G A intron_variant MALY-DE 3 179133405 179133405 single base substitution A G downstream_gene_variant MALY-DE 3 179133405 179133405 single base substitution A G intron_variant MALY-DE 3 179133405 179133405 single base substitution A G upstream_gene_variant MALY-DE 3 179138020 179138020 single base substitution G A intron_variant MALY-DE 3 179138020 179138020 single base substitution G A upstream_gene_variant MALY-DE 3 179138402 179138402 insertion of <=200bp - T intron_variant MALY-DE 3 179138402 179138402 insertion of <=200bp - T upstream_gene_variant MALY-DE 3 179139035 179139035 single base substitution T G intron_variant MALY-DE 3 179139035 179139035 single base substitution T G upstream_gene_variant MALY-DE 3 179139303 179139303 single base substitution C T intron_variant MALY-DE 3 179139303 179139303 single base substitution C T upstream_gene_variant MALY-DE 3 179142529 179142529 single base substitution A G intron_variant MALY-DE 3 179147216 179147216 single base substitution C G intron_variant MALY-DE 3 179150316 179150316 insertion of <=200bp - A intron_variant MALY-DE 3 179155692 179155692 insertion of <=200bp - A intron_variant MALY-DE 3 179155692 179155692 insertion of <=200bp - A splice_region_variant MELA-AU 3 179114831 179114831 single base substitution G A downstream_gene_variant MELA-AU 3 179116108 179116108 single base substitution G A downstream_gene_variant MELA-AU 3 179118467 179118467 single base substitution C A 3_prime_UTR_variant MELA-AU 3 179118467 179118467 single base substitution C A downstream_gene_variant MELA-AU 3 179118701 179118701 single base substitution A T 3_prime_UTR_variant MELA-AU 3 179118701 179118701 single base substitution A T downstream_gene_variant MELA-AU 3 179119232 179119232 single base substitution A T intron_variant MELA-AU 3 179119838 179119838 single base substitution A G intron_variant MELA-AU 3 179120107 179120107 single base substitution G A intron_variant MELA-AU 3 179120520 179120520 single base substitution A G intron_variant MELA-AU 3 179121370 179121370 single base substitution C T intron_variant MELA-AU 3 179121480 179121481 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 179121561 179121562 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 179121612 179121612 single base substitution G A intron_variant MELA-AU 3 179123511 179123511 single base substitution A G downstream_gene_variant MELA-AU 3 179123511 179123511 single base substitution A G intron_variant MELA-AU 3 179124528 179124528 single base substitution G A downstream_gene_variant MELA-AU 3 179124528 179124528 single base substitution G A intron_variant MELA-AU 3 179124593 179124593 single base substitution G A downstream_gene_variant MELA-AU 3 179124593 179124593 single base substitution G A intron_variant MELA-AU 3 179125241 179125241 single base substitution T C downstream_gene_variant MELA-AU 3 179125241 179125241 single base substitution T C intron_variant MELA-AU 3 179127277 179127277 single base substitution G A downstream_gene_variant MELA-AU 3 179127277 179127277 single base substitution G A intron_variant MELA-AU 3 179128396 179128396 single base substitution G A intron_variant MELA-AU 3 179130678 179130678 single base substitution A G downstream_gene_variant MELA-AU 3 179130678 179130678 single base substitution A G intron_variant MELA-AU 3 179133550 179133550 single base substitution G A downstream_gene_variant MELA-AU 3 179133550 179133550 single base substitution G A intron_variant MELA-AU 3 179133550 179133550 single base substitution G A upstream_gene_variant MELA-AU 3 179134983 179134983 single base substitution A G intron_variant MELA-AU 3 179134983 179134983 single base substitution A G upstream_gene_variant MELA-AU 3 179135703 179135703 single base substitution T A intron_variant MELA-AU 3 179135703 179135703 single base substitution T A upstream_gene_variant MELA-AU 3 179136002 179136002 single base substitution A G intron_variant MELA-AU 3 179136002 179136002 single base substitution A G upstream_gene_variant MELA-AU 3 179136044 179136045 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 179136044 179136045 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 179136397 179136397 single base substitution G A intron_variant MELA-AU 3 179136397 179136397 single base substitution G A upstream_gene_variant MELA-AU 3 179136844 179136844 single base substitution T A intron_variant MELA-AU 3 179136844 179136844 single base substitution T A upstream_gene_variant MELA-AU 3 179137201 179137202 multiple base substitution (>=2bp and <=200bp) CC AT missense_variant W63Y 188GG>AT MELA-AU 3 179137201 179137202 multiple base substitution (>=2bp and <=200bp) CC AT upstream_gene_variant MELA-AU 3 179137915 179137915 single base substitution T A intron_variant MELA-AU 3 179137915 179137915 single base substitution T A upstream_gene_variant MELA-AU 3 179138119 179138119 single base substitution G A intron_variant MELA-AU 3 179138119 179138119 single base substitution G A upstream_gene_variant MELA-AU 3 179138180 179138180 single base substitution G A intron_variant MELA-AU 3 179138180 179138180 single base substitution G A upstream_gene_variant MELA-AU 3 179138260 179138260 single base substitution T A intron_variant MELA-AU 3 179138260 179138260 single base substitution T A upstream_gene_variant MELA-AU 3 179139732 179139732 single base substitution G A intron_variant MELA-AU 3 179140800 179140800 single base substitution C T intron_variant MELA-AU 3 179141071 179141072 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 179141237 179141237 single base substitution G A intron_variant MELA-AU 3 179141464 179141464 single base substitution G A intron_variant MELA-AU 3 179141821 179141821 single base substitution T A intron_variant MELA-AU 3 179141846 179141846 single base substitution G A intron_variant MELA-AU 3 179141990 179141990 single base substitution G A intron_variant MELA-AU 3 179142004 179142004 single base substitution G A intron_variant MELA-AU 3 179142097 179142097 single base substitution G A intron_variant MELA-AU 3 179142185 179142185 single base substitution C A intron_variant MELA-AU 3 179142755 179142755 single base substitution C T intron_variant MELA-AU 3 179143053 179143053 single base substitution C T intron_variant MELA-AU 3 179143583 179143583 single base substitution A T intron_variant MELA-AU 3 179143810 179143810 single base substitution G A intron_variant MELA-AU 3 179143944 179143944 single base substitution C T synonymous_variant R15R 45G>A MELA-AU 3 179145625 179145625 single base substitution A G intron_variant MELA-AU 3 179146360 179146360 single base substitution A G intron_variant MELA-AU 3 179146433 179146433 single base substitution C T intron_variant MELA-AU 3 179146740 179146740 single base substitution C A intron_variant MELA-AU 3 179146759 179146759 single base substitution G A intron_variant MELA-AU 3 179146939 179146939 single base substitution T C intron_variant MELA-AU 3 179147578 179147578 single base substitution C T intron_variant MELA-AU 3 179147673 179147673 single base substitution C T intron_variant MELA-AU 3 179148059 179148059 single base substitution G A intron_variant MELA-AU 3 179148621 179148621 single base substitution C T intron_variant MELA-AU 3 179149758 179149758 single base substitution G A intron_variant MELA-AU 3 179152048 179152048 single base substitution T A intron_variant MELA-AU 3 179152074 179152074 single base substitution A G intron_variant MELA-AU 3 179152153 179152153 single base substitution G A intron_variant MELA-AU 3 179154194 179154194 single base substitution G A intron_variant MELA-AU 3 179156009 179156009 single base substitution A G intron_variant MELA-AU 3 179157829 179157829 single base substitution G A intron_variant MELA-AU 3 179157841 179157841 single base substitution G A intron_variant MELA-AU 3 179159363 179159363 single base substitution A T intron_variant MELA-AU 3 179159776 179159776 single base substitution G T intron_variant MELA-AU 3 179161993 179161993 single base substitution G A intron_variant MELA-AU 3 179161998 179161998 single base substitution G A intron_variant MELA-AU 3 179162962 179162962 single base substitution C T intron_variant MELA-AU 3 179163580 179163580 single base substitution G A intron_variant MELA-AU 3 179164147 179164147 single base substitution G A intron_variant MELA-AU 3 179164256 179164256 single base substitution G A intron_variant MELA-AU 3 179164369 179164369 single base substitution A T intron_variant MELA-AU 3 179165129 179165129 single base substitution G A intron_variant MELA-AU 3 179165419 179165419 deletion of <=200bp A - intron_variant MELA-AU 3 179165646 179165646 single base substitution G A intron_variant MELA-AU 3 179165749 179165749 single base substitution A G intron_variant MELA-AU 3 179166387 179166387 single base substitution G A intron_variant MELA-AU 3 179166659 179166659 single base substitution G A intron_variant MELA-AU 3 179166741 179166741 single base substitution A C intron_variant MELA-AU 3 179168863 179168863 single base substitution G A 5_prime_UTR_variant MELA-AU 3 179168863 179168863 single base substitution G A intron_variant MELA-AU 3 179169867 179169867 single base substitution G A upstream_gene_variant MELA-AU 3 179170031 179170031 single base substitution G A upstream_gene_variant MELA-AU 3 179170117 179170117 single base substitution C T upstream_gene_variant MELA-AU 3 179170142 179170142 single base substitution T A upstream_gene_variant MELA-AU 3 179170370 179170370 single base substitution C T upstream_gene_variant MELA-AU 3 179170667 179170667 single base substitution A G upstream_gene_variant MELA-AU 3 179171179 179171179 single base substitution G A upstream_gene_variant MELA-AU 3 179171297 179171297 single base substitution G T upstream_gene_variant MELA-AU 3 179171787 179171787 single base substitution G A upstream_gene_variant MELA-AU 3 179172061 179172061 single base substitution C T upstream_gene_variant MELA-AU 3 179173130 179173130 single base substitution G A upstream_gene_variant MELA-AU 3 179173318 179173318 single base substitution G A upstream_gene_variant MELA-AU 3 179173786 179173786 single base substitution G A upstream_gene_variant MELA-AU 3 179173885 179173885 single base substitution G A upstream_gene_variant MELA-AU 3 179173930 179173930 single base substitution C T upstream_gene_variant MELA-AU 3 179173945 179173945 single base substitution G A upstream_gene_variant MELA-AU 3 179174347 179174347 single base substitution G A upstream_gene_variant ORCA-IN 3 179124178 179124178 single base substitution G C downstream_gene_variant ORCA-IN 3 179124178 179124178 single base substitution G C intron_variant ORCA-IN 3 179144079 179144079 single base substitution C T intron_variant ORCA-IN 3 179147901 179147901 single base substitution G A intron_variant ORCA-IN 3 179158676 179158676 single base substitution G T intron_variant OV-AU 3 179114662 179114662 single base substitution A G downstream_gene_variant OV-AU 3 179117262 179117262 single base substitution A C 3_prime_UTR_variant OV-AU 3 179117262 179117262 single base substitution A C downstream_gene_variant OV-AU 3 179125758 179125758 single base substitution C A downstream_gene_variant OV-AU 3 179125758 179125758 single base substitution C A intron_variant OV-AU 3 179131316 179131316 single base substitution C G downstream_gene_variant OV-AU 3 179131316 179131316 single base substitution C G exon_variant OV-AU 3 179131316 179131316 single base substitution C G missense_variant D117H 349G>C OV-AU 3 179131316 179131316 single base substitution C G missense_variant D195H 583G>C OV-AU 3 179132531 179132531 single base substitution T C downstream_gene_variant OV-AU 3 179132531 179132531 single base substitution T C intron_variant OV-AU 3 179132531 179132531 single base substitution T C upstream_gene_variant OV-AU 3 179135447 179135447 single base substitution T A intron_variant OV-AU 3 179135447 179135447 single base substitution T A upstream_gene_variant OV-AU 3 179136741 179136741 single base substitution G C intron_variant OV-AU 3 179136741 179136741 single base substitution G C upstream_gene_variant OV-AU 3 179143403 179143403 single base substitution T A intron_variant OV-AU 3 179143539 179143539 single base substitution A G intron_variant OV-AU 3 179153392 179153392 single base substitution C T intron_variant OV-AU 3 179158764 179158764 single base substitution T G intron_variant OV-AU 3 179161554 179161554 single base substitution T A intron_variant OV-AU 3 179165038 179165038 single base substitution G T intron_variant OV-AU 3 179173118 179173118 single base substitution A G upstream_gene_variant OV-AU 3 179173127 179173127 single base substitution A G upstream_gene_variant OV-AU 3 179174026 179174026 single base substitution T C upstream_gene_variant PACA-AU 3 179114593 179114593 single base substitution C T downstream_gene_variant PACA-AU 3 179123046 179123046 single base substitution C T intron_variant PACA-AU 3 179123046 179123046 single base substitution C T missense_variant R283H 848G>A PACA-AU 3 179126254 179126254 single base substitution C T downstream_gene_variant PACA-AU 3 179126254 179126254 single base substitution C T intron_variant PACA-AU 3 179128041 179128042 deletion of <=200bp AA - downstream_gene_variant PACA-AU 3 179128041 179128042 deletion of <=200bp AA - intron_variant PACA-AU 3 179130771 179130771 single base substitution C A downstream_gene_variant PACA-AU 3 179130771 179130771 single base substitution C A intron_variant PACA-AU 3 179131418 179131418 single base substitution A C downstream_gene_variant PACA-AU 3 179131418 179131418 single base substitution A C intron_variant PACA-AU 3 179135264 179135264 single base substitution C G intron_variant PACA-AU 3 179135264 179135264 single base substitution C G upstream_gene_variant PACA-AU 3 179137880 179137880 single base substitution G A intron_variant PACA-AU 3 179137880 179137880 single base substitution G A upstream_gene_variant PACA-AU 3 179138260 179138260 single base substitution T A intron_variant PACA-AU 3 179138260 179138260 single base substitution T A upstream_gene_variant PACA-AU 3 179140072 179140072 single base substitution T C intron_variant PACA-AU 3 179141443 179141443 single base substitution C T intron_variant PACA-AU 3 179149115 179149115 single base substitution C T intron_variant PACA-AU 3 179151721 179151721 single base substitution C G intron_variant PACA-AU 3 179152520 179152520 single base substitution A G intron_variant PACA-AU 3 179155301 179155301 single base substitution G A intron_variant PACA-AU 3 179155936 179155936 single base substitution A G intron_variant PACA-AU 3 179157505 179157505 single base substitution G C intron_variant PACA-AU 3 179157685 179157685 single base substitution G C intron_variant PACA-AU 3 179157696 179157696 single base substitution G C intron_variant PACA-AU 3 179157998 179157998 single base substitution G T intron_variant PACA-AU 3 179159141 179159141 single base substitution G A intron_variant PACA-AU 3 179160244 179160248 deletion of <=200bp GATTT - intron_variant PACA-AU 3 179160448 179160448 single base substitution C A intron_variant PACA-AU 3 179161657 179161657 single base substitution G A intron_variant PACA-AU 3 179161739 179161739 single base substitution G C intron_variant PACA-AU 3 179162014 179162014 deletion of <=200bp T - intron_variant PACA-AU 3 179168117 179168117 single base substitution C T intron_variant PACA-AU 3 179170794 179170794 single base substitution G C upstream_gene_variant PACA-AU 3 179171043 179171043 single base substitution G C upstream_gene_variant PACA-AU 3 179171108 179171108 single base substitution C T upstream_gene_variant PACA-AU 3 179171230 179171230 single base substitution C A upstream_gene_variant PACA-AU 3 179174179 179174179 single base substitution G T upstream_gene_variant PACA-CA 3 179113451 179113451 single base substitution A G downstream_gene_variant PACA-CA 3 179120240 179120240 single base substitution A G intron_variant PACA-CA 3 179121267 179121267 single base substitution G C intron_variant PACA-CA 3 179124293 179124293 single base substitution C T downstream_gene_variant PACA-CA 3 179124293 179124293 single base substitution C T intron_variant PACA-CA 3 179124424 179124425 deletion of <=200bp AG - downstream_gene_variant PACA-CA 3 179124424 179124425 deletion of <=200bp AG - intron_variant PACA-CA 3 179125498 179125498 single base substitution A G downstream_gene_variant PACA-CA 3 179125498 179125498 single base substitution A G intron_variant PACA-CA 3 179125624 179125624 single base substitution C T downstream_gene_variant PACA-CA 3 179125624 179125624 single base substitution C T intron_variant PACA-CA 3 179127841 179127841 single base substitution C T downstream_gene_variant PACA-CA 3 179127841 179127841 single base substitution C T intron_variant PACA-CA 3 179128812 179128812 single base substitution C T intron_variant PACA-CA 3 179130702 179130702 single base substitution T C downstream_gene_variant PACA-CA 3 179130702 179130702 single base substitution T C intron_variant PACA-CA 3 179130734 179130734 single base substitution G A downstream_gene_variant PACA-CA 3 179130734 179130734 single base substitution G A intron_variant PACA-CA 3 179132025 179132025 single base substitution A G downstream_gene_variant PACA-CA 3 179132025 179132025 single base substitution A G intron_variant PACA-CA 3 179132025 179132025 single base substitution A G upstream_gene_variant PACA-CA 3 179132898 179132898 single base substitution T C downstream_gene_variant PACA-CA 3 179132898 179132898 single base substitution T C intron_variant PACA-CA 3 179132898 179132898 single base substitution T C upstream_gene_variant PACA-CA 3 179133641 179133641 single base substitution A G downstream_gene_variant PACA-CA 3 179133641 179133641 single base substitution A G intron_variant PACA-CA 3 179133641 179133641 single base substitution A G upstream_gene_variant PACA-CA 3 179133863 179133863 single base substitution A G downstream_gene_variant PACA-CA 3 179133863 179133863 single base substitution A G intron_variant PACA-CA 3 179133863 179133863 single base substitution A G upstream_gene_variant PACA-CA 3 179136193 179136193 single base substitution G T intron_variant PACA-CA 3 179136193 179136193 single base substitution G T upstream_gene_variant PACA-CA 3 179136797 179136797 single base substitution C T intron_variant PACA-CA 3 179136797 179136797 single base substitution C T upstream_gene_variant PACA-CA 3 179137394 179137394 single base substitution C A intron_variant PACA-CA 3 179137394 179137394 single base substitution C A upstream_gene_variant PACA-CA 3 179138840 179138840 single base substitution T G intron_variant PACA-CA 3 179138840 179138840 single base substitution T G upstream_gene_variant PACA-CA 3 179140180 179140180 single base substitution C T intron_variant PACA-CA 3 179140738 179140738 single base substitution G A intron_variant PACA-CA 3 179141216 179141216 single base substitution A G intron_variant PACA-CA 3 179141938 179141938 single base substitution T A intron_variant PACA-CA 3 179142689 179142689 single base substitution C T intron_variant PACA-CA 3 179143144 179143144 single base substitution C G intron_variant PACA-CA 3 179146866 179146866 single base substitution T G intron_variant PACA-CA 3 179147062 179147062 single base substitution G A intron_variant PACA-CA 3 179147237 179147237 single base substitution G A intron_variant PACA-CA 3 179147478 179147478 single base substitution A T intron_variant PACA-CA 3 179149262 179149262 single base substitution G A intron_variant PACA-CA 3 179156725 179156725 single base substitution G C intron_variant PACA-CA 3 179159412 179159412 single base substitution C T intron_variant PACA-CA 3 179159615 179159615 single base substitution C T intron_variant PACA-CA 3 179160596 179160596 single base substitution T A intron_variant PACA-CA 3 179161323 179161323 insertion of <=200bp - A intron_variant PACA-CA 3 179161382 179161382 single base substitution A C intron_variant PACA-CA 3 179162629 179162629 single base substitution G A intron_variant PACA-CA 3 179164376 179164376 deletion of <=200bp T - intron_variant PACA-CA 3 179166586 179166586 single base substitution G T intron_variant PACA-CA 3 179166766 179166766 single base substitution A G intron_variant PACA-CA 3 179166997 179166997 single base substitution T A intron_variant PACA-CA 3 179167035 179167035 single base substitution T A intron_variant PACA-CA 3 179168530 179168530 single base substitution G T intron_variant PACA-CA 3 179168818 179168818 deletion of <=200bp G - 5_prime_UTR_variant PACA-CA 3 179168818 179168818 deletion of <=200bp G - intron_variant PACA-CA 3 179169185 179169185 single base substitution C T 5_prime_UTR_variant PACA-CA 3 179169185 179169185 single base substitution C T upstream_gene_variant PACA-CA 3 179169435 179169435 single base substitution C T upstream_gene_variant PACA-CA 3 179171038 179171038 single base substitution G C upstream_gene_variant PAEN-AU 3 179158214 179158214 single base substitution G A intron_variant PAEN-AU 3 179169271 179169271 single base substitution A C 5_prime_UTR_variant PAEN-AU 3 179169271 179169271 single base substitution A C upstream_gene_variant PAEN-IT 3 179113357 179113357 single base substitution A C downstream_gene_variant PAEN-IT 3 179163066 179163066 single base substitution C A intron_variant PAEN-IT 3 179171148 179171148 single base substitution G T upstream_gene_variant PBCA-DE 3 179123512 179123513 deletion of <=200bp TG - downstream_gene_variant PBCA-DE 3 179123512 179123513 deletion of <=200bp TG - intron_variant PBCA-DE 3 179129564 179129564 deletion of <=200bp A - downstream_gene_variant PBCA-DE 3 179129564 179129564 deletion of <=200bp A - intron_variant PBCA-DE 3 179145318 179145318 single base substitution G T intron_variant PBCA-DE 3 179147805 179147805 single base substitution T C intron_variant PBCA-DE 3 179156050 179156050 single base substitution C T intron_variant PBCA-DE 3 179164345 179164345 single base substitution G C intron_variant PBCA-DE 3 179174047 179174047 deletion of <=200bp T - upstream_gene_variant PBCA-DE 3 179174062 179174062 insertion of <=200bp - A upstream_gene_variant PRAD-CA 3 179121612 179121612 single base substitution G A intron_variant PRAD-CA 3 179124381 179124381 single base substitution G T downstream_gene_variant PRAD-CA 3 179124381 179124381 single base substitution G T intron_variant PRAD-CA 3 179140249 179140249 single base substitution T G intron_variant PRAD-CA 3 179161892 179161892 single base substitution C A intron_variant PRAD-UK 3 179132970 179132970 single base substitution G A downstream_gene_variant PRAD-UK 3 179132970 179132970 single base substitution G A intron_variant PRAD-UK 3 179132970 179132970 single base substitution G A upstream_gene_variant PRAD-UK 3 179133522 179133522 single base substitution C T downstream_gene_variant PRAD-UK 3 179133522 179133522 single base substitution C T intron_variant PRAD-UK 3 179133522 179133522 single base substitution C T upstream_gene_variant PRAD-UK 3 179133912 179133912 single base substitution C T downstream_gene_variant PRAD-UK 3 179133912 179133912 single base substitution C T intron_variant PRAD-UK 3 179133912 179133912 single base substitution C T upstream_gene_variant PRAD-UK 3 179163937 179163937 single base substitution C T intron_variant PRAD-UK 3 179164006 179164006 single base substitution T A intron_variant PRAD-UK 3 179170351 179170351 single base substitution T A upstream_gene_variant PRAD-UK 3 179171069 179171069 single base substitution C T upstream_gene_variant PRAD-US 3 179131318 179131318 single base substitution G T downstream_gene_variant PRAD-US 3 179131318 179131318 single base substitution G T exon_variant PRAD-US 3 179131318 179131318 single base substitution G T missense_variant P116H 347C>A PRAD-US 3 179131318 179131318 single base substitution G T missense_variant P194H 581C>A RECA-EU 3 179138649 179138649 single base substitution A C intron_variant RECA-EU 3 179138649 179138649 single base substitution A C upstream_gene_variant RECA-EU 3 179141380 179141380 single base substitution G A intron_variant RECA-EU 3 179141794 179141794 single base substitution A T intron_variant RECA-EU 3 179142648 179142648 single base substitution A G intron_variant RECA-EU 3 179143172 179143172 single base substitution G T intron_variant RECA-EU 3 179145112 179145112 single base substitution G A intron_variant RECA-EU 3 179152317 179152317 single base substitution T C intron_variant RECA-EU 3 179163514 179163514 single base substitution G A intron_variant RECA-EU 3 179163713 179163713 single base substitution A T intron_variant RECA-EU 3 179167317 179167317 single base substitution G C intron_variant SKCA-BR 3 179116311 179116311 single base substitution T A downstream_gene_variant SKCA-BR 3 179116312 179116312 single base substitution A T downstream_gene_variant SKCA-BR 3 179120167 179120167 single base substitution C A intron_variant SKCA-BR 3 179122707 179122707 single base substitution C G intron_variant SKCA-BR 3 179124544 179124544 single base substitution G A downstream_gene_variant SKCA-BR 3 179124544 179124544 single base substitution G A intron_variant SKCA-BR 3 179128006 179128006 single base substitution G T downstream_gene_variant SKCA-BR 3 179128006 179128006 single base substitution G T intron_variant SKCA-BR 3 179137494 179137494 single base substitution T C intron_variant SKCA-BR 3 179137494 179137494 single base substitution T C upstream_gene_variant SKCA-BR 3 179138255 179138256 deletion of <=200bp TA - intron_variant SKCA-BR 3 179138255 179138256 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 3 179138256 179138256 single base substitution A T intron_variant SKCA-BR 3 179138256 179138256 single base substitution A T upstream_gene_variant SKCA-BR 3 179138257 179138258 deletion of <=200bp TA - intron_variant SKCA-BR 3 179138257 179138258 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 3 179138258 179138258 single base substitution A T intron_variant SKCA-BR 3 179138258 179138258 single base substitution A T upstream_gene_variant SKCA-BR 3 179140207 179140207 single base substitution G A intron_variant SKCA-BR 3 179141574 179141574 insertion of <=200bp - TA intron_variant SKCA-BR 3 179142843 179142843 single base substitution A T intron_variant SKCA-BR 3 179145393 179145395 deletion of <=200bp TAA - intron_variant SKCA-BR 3 179145792 179145816 deletion of <=200bp AAAAGATTGATTCCCCTCATGAGAG - intron_variant SKCA-BR 3 179147859 179147863 deletion of <=200bp GAGAC - intron_variant SKCA-BR 3 179147859 179147867 deletion of <=200bp GAGACAGAC - intron_variant SKCA-BR 3 179148408 179148408 insertion of <=200bp - AT intron_variant SKCA-BR 3 179149345 179149345 insertion of <=200bp - CAAA intron_variant SKCA-BR 3 179150315 179150315 insertion of <=200bp - TA intron_variant SKCA-BR 3 179151048 179151048 insertion of <=200bp - TA intron_variant SKCA-BR 3 179152714 179152714 single base substitution A T intron_variant SKCA-BR 3 179154458 179154458 single base substitution C G intron_variant SKCA-BR 3 179154860 179154860 single base substitution G A intron_variant SKCA-BR 3 179155859 179155859 insertion of <=200bp - CA intron_variant SKCA-BR 3 179157508 179157508 single base substitution A C intron_variant SKCA-BR 3 179157799 179157799 single base substitution G A intron_variant SKCA-BR 3 179158568 179158568 single base substitution G A intron_variant SKCA-BR 3 179159159 179159159 single base substitution T C intron_variant SKCA-BR 3 179159540 179159540 single base substitution A C intron_variant SKCA-BR 3 179163347 179163347 insertion of <=200bp - TG intron_variant SKCA-BR 3 179163348 179163351 deletion of <=200bp ACAG - intron_variant SKCA-BR 3 179164762 179164762 single base substitution C T intron_variant SKCA-BR 3 179165223 179165223 single base substitution A C intron_variant SKCA-BR 3 179168886 179168886 single base substitution G A 5_prime_UTR_variant SKCA-BR 3 179168886 179168886 single base substitution G A intron_variant SKCA-BR 3 179169379 179169379 single base substitution A G upstream_gene_variant SKCA-BR 3 179170521 179170521 single base substitution C T upstream_gene_variant SKCA-BR 3 179172475 179172475 single base substitution A T upstream_gene_variant SKCA-BR 3 179172653 179172653 single base substitution G A upstream_gene_variant SKCA-BR 3 179172979 179172979 single base substitution G T upstream_gene_variant SKCA-BR 3 179173405 179173405 single base substitution G A upstream_gene_variant SKCA-BR 3 179173756 179173756 single base substitution T G upstream_gene_variant SKCA-BR 3 179173774 179173774 single base substitution C T upstream_gene_variant SKCM-US 3 179123136 179123136 single base substitution A C downstream_gene_variant SKCM-US 3 179123136 179123136 single base substitution A C intron_variant SKCM-US 3 179123136 179123136 single base substitution A C missense_variant F253C 758T>G SKCM-US 3 179131545 179131545 single base substitution A G downstream_gene_variant SKCM-US 3 179131545 179131545 single base substitution A G missense_variant L152S 455T>C SKCM-US 3 179131545 179131545 single base substitution A G missense_variant L74S 221T>C SKCM-US 3 179131545 179131545 single base substitution A G upstream_gene_variant SKCM-US 3 179132722 179132722 single base substitution C T downstream_gene_variant SKCM-US 3 179132722 179132722 single base substitution C T synonymous_variant K127K 381G>A SKCM-US 3 179132722 179132722 single base substitution C T synonymous_variant K49K 147G>A SKCM-US 3 179132722 179132722 single base substitution C T upstream_gene_variant SKCM-US 3 179137190 179137190 single base substitution G A missense_variant S67F 200C>T SKCM-US 3 179137190 179137190 single base substitution G A upstream_gene_variant SKCM-US 3 179137274 179137274 single base substitution G A missense_variant S39F 116C>T SKCM-US 3 179137274 179137274 single base substitution G A upstream_gene_variant STAD-US 3 179123026 179123026 single base substitution C T intron_variant STAD-US 3 179123026 179123026 single base substitution C T missense_variant D290N 868G>A STAD-US 3 179131207 179131207 single base substitution G C downstream_gene_variant STAD-US 3 179131207 179131207 single base substitution G C exon_variant STAD-US 3 179131207 179131207 single base substitution G C missense_variant A153G 458C>G STAD-US 3 179131207 179131207 single base substitution G C missense_variant A231G 692C>G STAD-US 3 179132727 179132727 single base substitution A T downstream_gene_variant STAD-US 3 179132727 179132727 single base substitution A T missense_variant L126I 376T>A STAD-US 3 179132727 179132727 single base substitution A T missense_variant L48I 142T>A STAD-US 3 179132727 179132727 single base substitution A T upstream_gene_variant STAD-US 3 179132743 179132743 single base substitution G A downstream_gene_variant STAD-US 3 179132743 179132743 single base substitution G A synonymous_variant I120I 360C>T STAD-US 3 179132743 179132743 single base substitution G A synonymous_variant I42I 126C>T STAD-US 3 179132743 179132743 single base substitution G A upstream_gene_variant THCA-SA 3 179115501 179115501 single base substitution A T downstream_gene_variant THCA-SA 3 179117663 179117663 single base substitution G C 3_prime_UTR_variant THCA-SA 3 179117663 179117663 single base substitution G C downstream_gene_variant THCA-SA 3 179137273 179137273 single base substitution A G synonymous_variant S39S 117T>C THCA-SA 3 179137273 179137273 single base substitution A G upstream_gene_variant UCEC-US 3 179123026 179123026 single base substitution C T intron_variant UCEC-US 3 179123026 179123026 single base substitution C T missense_variant D290N 868G>A UCEC-US 3 179132797 179132797 single base substitution G A downstream_gene_variant UCEC-US 3 179132797 179132797 single base substitution G A synonymous_variant T102T 306C>T UCEC-US 3 179132797 179132797 single base substitution G A synonymous_variant T24T 72C>T UCEC-US 3 179132797 179132797 single base substitution G A upstream_gene_variant UCEC-US 3 179137238 179137238 single base substitution A G missense_variant L51P 152T>C UCEC-US 3 179137238 179137238 single base substitution A G upstream_gene_variant UCEC-US 3 179137245 179137245 single base substitution G A missense_variant R49C 145C>T UCEC-US 3 179137245 179137245 single base substitution G A upstream_gene_variant UCEC-US 3 179138686 179138686 single base substitution C T synonymous_variant T29T 87G>A UCEC-US 3 179138686 179138686 single base substitution C T upstream_gene_variant UCEC-US 3 179143986 179143986 single base substitution C A start_lost M1I 3G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand STC232 COSM5059512 c.136C>T p.R46* Substitution - Nonsense 3:179419466-179419466 - PACA101 COSM1157814 c.848G>A p.R283H Substitution - Missense 3:179405258-179405258 - TCGA-B5-A0JY-01 COSM1041550 c.152T>C p.L51P Substitution - Missense 3:179419450-179419450 - TCGA-CG-4442-01 COSM1041548 c.868G>A p.D290N Substitution - Missense 3:179405238-179405238 - TCGA-AG-3902-01 COSM289075 c.235T>C p.L79L Substitution - coding silent 3:179416525-179416525 - T3024 COSM3205825 c.455delT p.L152fs*1 Deletion - Frameshift 3:179413757-179413757 - TCGA-BR-6458-01 COSM4115445 c.376T>A p.L126I Substitution - Missense 3:179414939-179414939 - TCGA-BR-6852-01 COSM4115444 c.692C>G p.A231G Substitution - Missense 3:179413419-179413419 - TCGA-EE-A3JD-06 COSM4394305 c.200C>T p.S67F Substitution - Missense 3:179419402-179419402 - pfg344T COSM4763706 c.916+1G>A p.? Unknown 3:179405189-179405189 - TCGA-BR-8680-01 COSM4115446 c.360C>T p.I120I Substitution - coding silent 3:179414955-179414955 - TCGA-EE-A29V-06 COSM3590423 c.758T>G p.F253C Substitution - Missense 3:179405348-179405348 - HCC2998 COSM1421059 c.514G>A p.E172K Substitution - Missense 3:179413597-179413597 - TCGA-AP-A059-01 COSM1041552 c.87G>A p.T29T Substitution - coding silent 3:179420898-179420898 - 8044853 COSM1157814 c.848G>A p.R283H Substitution - Missense 3:179405258-179405258 - RDES COSM4584129 c.186T>C p.H62H Substitution - coding silent 3:179419416-179419416 - PR-00-160 COSM244729 c.640C>A p.R214R Substitution - coding silent 3:179413471-179413471 - TCGA-AA-3856-01 COSM272002 c.236T>G p.L79* Substitution - Nonsense 3:179416524-179416524 - 447 COSM4435130 c.112G>T p.D38Y Substitution - Missense 3:179419490-179419490 - 3N50-VS-3T50 COSM4983112 c.213C>T p.V71V Substitution - coding silent 3:179416547-179416547 - TCGA-D3-A1QA-06 COSM3915408 c.381G>A p.K127K Substitution - coding silent 3:179414934-179414934 - TCGA-AZ-4315-01 COSM1421062 c.137G>A p.R46Q Substitution - Missense 3:179419465-179419465 - TCGA-D1-A174-01 COSM1041551 c.145C>T p.R49C Substitution - Missense 3:179419457-179419457 - TCGA-A6-6780-01 COSM1421060 c.409C>T p.R137* Substitution - Nonsense 3:179414906-179414906 - SNU-C2B COSM3205835 c.147T>C p.R49R Substitution - coding silent 3:179419455-179419455 - pfg116T COSM4763707 c.847C>T p.R283C Substitution - Missense 3:179405259-179405259 - ESCC-015T COSM3940406 c.668C>T p.T223M Substitution - Missense 3:179413443-179413443 - TCGA-A6-6780-01 COSM1421057 c.887T>C p.V296A Substitution - Missense 3:179405219-179405219 - SNUH_G76_S1 COSM4418275 c.117T>C p.S39S Substitution - coding silent 3:179419485-179419485 - 587376 COSM1208413 c.97-1G>T p.? Unknown 3:179419506-179419506 - ESO-152 COSM1253365 c.51G>T p.Q17H Substitution - Missense 3:179426150-179426150 - TCGA-EE-A3AE-06 COSM3590424 c.455T>C p.L152S Substitution - Missense 3:179413757-179413757 - HN_63080 COSM128069 c.714A>G p.G238G Substitution - coding silent 3:179405392-179405392 - EGC20 COSM5059511 c.966T>C p.D322D Substitution - coding silent 3:179401270-179401270 - COLO-829 COSM13667 c.320C>T p.P107L Substitution - Missense 3:179414995-179414995 - HCC079T COSM5808013 c.994T>A p.W332R Substitution - Missense 3:179401242-179401242 - TCGA-B0-4706-01 COSM479746 c.362G>A p.C121Y Substitution - Missense 3:179414953-179414953 - AOCS-064-1-6 COSM4149678 c.583G>C p.D195H Substitution - Missense 3:179413528-179413528 - YUMER COSM1693833 c.125G>A p.R42Q Substitution - Missense 3:179419477-179419477 - TCGA-61-1907-01 COSM1327706 c.223C>A p.Q75K Substitution - Missense 3:179416537-179416537 - CSCC-45-T COSM208818 c.43C>T p.R15W Substitution - Missense 3:179426158-179426158 - TCGA-46-3769-01 COSM729793 c.494C>T p.T165I Substitution - Missense 3:179413718-179413718 - YUFERY COSM5398698 c.267G>A p.K89K Substitution - coding silent 3:179416493-179416493 - HCC2998 COSM1421059 c.514G>A p.E172K Substitution - Missense 3:179413597-179413597 - HN_62624 COSM126725 c.482C>A p.S161* Substitution - Nonsense 3:179413730-179413730 - SNU-175 COSM3205832 c.234_235insA p.L79fs*6 Insertion - Frameshift 3:179416525-179416526 - TCGA-D1-A15X-01 COSM1041549 c.306C>T p.T102T Substitution - coding silent 3:179415009-179415009 - TCGA-RP-A693-06 COSM4895223 c.116C>T p.S39F Substitution - Missense 3:179419486-179419486 - RK095_C01 COSM3702366 c.476C>G p.T159R Substitution - Missense 3:179413736-179413736 - 111097 COSM1644636 c.179C>G p.A60G Substitution - Missense 3:179419423-179419423 - TCGA-DD-A3A9-01 COSM4920657 c.929G>C p.G310A Substitution - Missense 3:179401307-179401307 - TCGA-BT-A2LB-01 COSM3774729 c.960A>G p.V320V Substitution - coding silent 3:179401276-179401276 - TCGA-KK-A59V-01 COSM4878910 c.581C>A p.P194H Substitution - Missense 3:179413530-179413530 - 193 COSM3721944 c.491C>T p.T164I Substitution - Missense 3:179413721-179413721 - TCGA-21-1070-01 COSM729795 c.992C>A p.S331Y Substitution - Missense 3:179401244-179401244 - D28 COSM5545048 c.229G>A p.G77R Substitution - Missense 3:179416531-179416531 - AOCS-064-3-3 COSM4149678 c.583G>C p.D195H Substitution - Missense 3:179413528-179413528 - YUKAT COSM5398697 c.530C>T p.T177I Substitution - Missense 3:179413581-179413581 - PD18286a COSM3770644 c.747T>C p.T249T Substitution - coding silent 3:179405359-179405359 - TCGA-AA-A00N-01 COSM275319 c.352G>A p.D118N Substitution - Missense 3:179414963-179414963 - S01861 COSM5671297 c.544G>T p.G182W Substitution - Missense 3:179413567-179413567 - C106 COSM4616301 c.669G>T p.T223T Substitution - coding silent 3:179413442-179413442 - TCGA-BS-A0UF-01 COSM1041553 c.3G>T p.M1I Substitution - Missense 3:179426198-179426198 - TCGA-AM-5820-01 COSM3695930 c.742G>A p.A248T Substitution - Missense 3:179405364-179405364 - LUAD-RT-S01810 COSM382893 c.369A>G p.I123M Substitution - Missense 3:179414946-179414946 - TCGA-AX-A0J0-01 COSM1041548 c.868G>A p.D290N Substitution - Missense 3:179405238-179405238 - T3174 COSM4687446 c.373_374insTA p.N125fs*3 Insertion - Frameshift 3:179414941-179414942 - HCT8 COSM4634945 c.473T>C p.V158A Substitution - Missense 3:179413739-179413739 - I2L-P7-Tumor-Organoid COSM5355668 c.880T>C p.C294R Substitution - Missense 3:179405226-179405226 - PD22358a COSM5784161 c.593C>G p.T198S Substitution - Missense 3:179413518-179413518 - WA12 COSM239991 c.940C>T p.R314C Substitution - Missense 3:179401296-179401296 - COLO-829 COSM13667 c.320C>T p.P107L Substitution - Missense 3:179414995-179414995 - TCGA-22-5478-01 COSM729794 c.842G>T p.S281I Substitution - Missense 3:179405264-179405264 - TCGA-CM-6168-01 COSM1421059 c.514G>A p.E172K Substitution - Missense 3:179413597-179413597 - LUAD-D02085 COSM363370 c.212T>C p.V71A Substitution - Missense 3:179416548-179416548 - CSCC-16-T COSM4554875 c.634G>A p.D212N Substitution - Missense 3:179413477-179413477 - TCGA-AA-3713-01 COSM1421058 c.669G>A p.T223T Substitution - coding silent 3:179413442-179413442 - TCGA-FD-A3SL-01 COSM3774730 c.640C>G p.R214G Substitution - Missense 3:179413471-179413471 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.173030 3q26.33 610863

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F253C c.758T>G 3 179123136 CM A C Nonsense p.L79* c.236T>G 3 179134312 COREAD A G 3-UTRSNV . c.1020+1999T>C 3 179117005 CLL A G Missense p.L152S c.455T>C 3 179131545 CM A G Synonymous p.L79L c.235T>C 3 179134313 COREAD A T Missense p.L126I c.376T>A 3 179132727 STAD C A Missense p.Q17H c.51G>T 3 179143938 ESCA C A Missense p.S281I c.842G>T 3 179123052 LUSC C G Missense p.Q176H c.528G>C 3 179131371 CM C T Synonymous p.K127K c.381G>A 3 179132722 CM G A Missense p.R49C c.145C>T 3 179137245 UCEC G A Missense p.S67F c.200C>T 3 179137190 CM G A Missense p.T165I c.494C>T 3 179131506 LUSC G C Missense p.A231G c.692C>G 3 179131207 STAD G C Missense p.S122C c.365C>G 3 179132738 LUAD - G Frameshift p.R68Qfs*17 c.201dupC 3 179137189 GBM G T Missense p.S331Y c.992C>A 3 179119032 LUSC G T Nonsense p.S161* c.482C>A 3 179131518 HNSC - T CdsStartInsertion . c.1dupA 3 179143988 COREAD T C Synonymous p.G238G c.714A>G 3 179123180 HNSC T C Synonymous p.V320V c.960A>G 3 179119064 BLCA