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 9 71687607 71687607 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr9:71687607G>A c.562G>A c.(562-564)Gca>Aca p.A188T COAD 9 71668112 71668112 + Missense_Mutation SNP C C T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr9:71668112C>T c.320C>T c.(319-321)gCa>gTa p.A107V COAD 9 71679861 71679861 + Missense_Mutation SNP T T C TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr9:71679861T>C c.392T>C c.(391-393)gTc>gCc p.V131A COAD 9 71679915 71679915 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr9:71679915C>T c.446C>T c.(445-447)aCg>aTg p.T149M COADREAD 9 71668112 71668112 + Missense_Mutation SNP C C T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr9:71668112C>T c.320C>T c.(319-321)gCa>gTa p.A107V COADREAD 9 71679861 71679861 + Missense_Mutation SNP T T C TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr9:71679861T>C c.392T>C c.(391-393)gTc>gCc p.V131A COADREAD 9 71679915 71679915 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr9:71679915C>T c.446C>T c.(445-447)aCg>aTg p.T149M GBM 9 71687595 71687595 + Nonsense_Mutation SNP G G T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 g.chr9:71687595G>T c.550G>T c.(550-552)Gag>Tag p.E184* GBMLGG 9 71687595 71687595 + Nonsense_Mutation SNP G G T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 g.chr9:71687595G>T c.550G>T c.(550-552)Gag>Tag p.E184* KICH 9 71668178 71668178 + Splice_Site SNP T T C TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr9:71668178T>C c.e3+2 KIPAN 9 71668178 71668178 + Splice_Site SNP T T C TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr9:71668178T>C c.e3+2 LIHC 9 71661353 71661353 + Missense_Mutation SNP T T C TCGA-DD-A3A1-01A-11D-A20W-10 TCGA-DD-A3A1-11A-11D-A20W-10 g.chr9:71661353T>C c.218T>C c.(217-219)gTc>gCc p.V73A LUAD 9 71661388 71661388 + Missense_Mutation SNP G G T TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr9:71661388G>T c.253G>T c.(253-255)Ggc>Tgc p.G85C LUAD 9 71687583 71687583 + Missense_Mutation SNP G G A TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chr9:71687583G>A c.538G>A c.(538-540)Gtg>Atg p.V180M LUAD 9 71687670 71687670 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr9:71687670G>C c.625G>C c.(625-627)Gat>Cat p.D209H LUSC 9 71687670 71687670 + Missense_Mutation SNP G G C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 g.chr9:71687670G>C c.625G>C c.(625-627)Gat>Cat p.D209H SKCM 9 71668065 71668065 + Silent SNP T T C TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr9:71668065T>C c.273T>C c.(271-273)gaT>gaC p.D91D

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 9 71646036 71646036 single base substitution G T upstream_gene_variant BRCA-EU 9 71646275 71646275 single base substitution G A upstream_gene_variant BRCA-EU 9 71647769 71647769 single base substitution G T upstream_gene_variant BRCA-EU 9 71649492 71649492 single base substitution C A upstream_gene_variant BRCA-EU 9 71650263 71650263 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 9 71650263 71650263 single base substitution G T upstream_gene_variant BRCA-EU 9 71650901 71650901 single base substitution C G intron_variant BRCA-EU 9 71650901 71650901 single base substitution C G upstream_gene_variant BRCA-EU 9 71651658 71651658 single base substitution G A intron_variant BRCA-EU 9 71651860 71651860 single base substitution C T intron_variant BRCA-EU 9 71651994 71651994 single base substitution T C intron_variant BRCA-EU 9 71653185 71653185 single base substitution G A intron_variant BRCA-EU 9 71653325 71653325 single base substitution G C intron_variant BRCA-EU 9 71654603 71654603 single base substitution G C intron_variant BRCA-EU 9 71654650 71654652 deletion of <=200bp AGA - intron_variant BRCA-EU 9 71655643 71655643 single base substitution C T intron_variant BRCA-EU 9 71656087 71656087 single base substitution G T intron_variant BRCA-EU 9 71657964 71657964 single base substitution G T intron_variant BRCA-EU 9 71657964 71657964 single base substitution G T upstream_gene_variant BRCA-EU 9 71659732 71659732 single base substitution A G intron_variant BRCA-EU 9 71659732 71659732 single base substitution A G upstream_gene_variant BRCA-EU 9 71659888 71659888 single base substitution G C intron_variant BRCA-EU 9 71659888 71659888 single base substitution G C upstream_gene_variant BRCA-EU 9 71662153 71662153 single base substitution G C intron_variant BRCA-EU 9 71663465 71663465 single base substitution G A intron_variant BRCA-EU 9 71665184 71665184 single base substitution A G intron_variant BRCA-EU 9 71665983 71665983 single base substitution A G intron_variant BRCA-EU 9 71667317 71667317 single base substitution A G intron_variant BRCA-EU 9 71668925 71668925 single base substitution G A intron_variant BRCA-EU 9 71669812 71669812 single base substitution G T intron_variant BRCA-EU 9 71669882 71669882 single base substitution G A intron_variant BRCA-EU 9 71672107 71672107 single base substitution T G intron_variant BRCA-EU 9 71673941 71673941 single base substitution G A intron_variant BRCA-EU 9 71674216 71674217 deletion of <=200bp AG - intron_variant BRCA-EU 9 71674354 71674354 single base substitution C T intron_variant BRCA-EU 9 71675476 71675476 insertion of <=200bp - T intron_variant BRCA-EU 9 71675615 71675615 single base substitution G A intron_variant BRCA-EU 9 71676077 71676077 single base substitution C G intron_variant BRCA-EU 9 71677420 71677420 insertion of <=200bp - A intron_variant BRCA-EU 9 71678400 71678426 deletion of <=200bp CGAGTAAATAGTGGTTAATATTTTTAT - intron_variant BRCA-EU 9 71684392 71684392 deletion of <=200bp C - intron_variant BRCA-EU 9 71685888 71685888 insertion of <=200bp - T intron_variant BRCA-EU 9 71686211 71686211 single base substitution A G intron_variant BRCA-EU 9 71686784 71686784 single base substitution A G intron_variant BRCA-EU 9 71688072 71688072 single base substitution G A 3_prime_UTR_variant BRCA-EU 9 71688072 71688072 single base substitution G A downstream_gene_variant BRCA-EU 9 71688072 71688072 single base substitution G A intron_variant BRCA-EU 9 71688716 71688716 single base substitution G A 3_prime_UTR_variant BRCA-EU 9 71688716 71688716 single base substitution G A downstream_gene_variant BRCA-EU 9 71688716 71688716 single base substitution G A intron_variant BRCA-EU 9 71690543 71690543 single base substitution C T downstream_gene_variant BRCA-EU 9 71690543 71690543 single base substitution C T intron_variant BRCA-EU 9 71690895 71690895 single base substitution A G downstream_gene_variant BRCA-EU 9 71690895 71690895 single base substitution A G intron_variant BRCA-EU 9 71694051 71694051 single base substitution G C downstream_gene_variant BRCA-EU 9 71694051 71694051 single base substitution G C intron_variant BRCA-EU 9 71695897 71695897 single base substitution G T intron_variant BRCA-EU 9 71697781 71697781 single base substitution C T intron_variant BRCA-EU 9 71699602 71699602 single base substitution G A intron_variant BRCA-EU 9 71700221 71700221 single base substitution T A intron_variant BRCA-EU 9 71700234 71700234 single base substitution C G intron_variant BRCA-EU 9 71700315 71700315 single base substitution C T intron_variant BRCA-EU 9 71701196 71701196 single base substitution C T intron_variant BRCA-EU 9 71701555 71701555 single base substitution T A intron_variant BRCA-EU 9 71704089 71704089 single base substitution G A intron_variant BRCA-EU 9 71706022 71706022 single base substitution G C intron_variant BRCA-EU 9 71707110 71707110 single base substitution C T intron_variant BRCA-EU 9 71708822 71708822 single base substitution G A intron_variant BRCA-EU 9 71710810 71710810 single base substitution A G intron_variant BRCA-EU 9 71711847 71711847 single base substitution C T intron_variant BRCA-EU 9 71712296 71712296 single base substitution A T intron_variant BRCA-EU 9 71712367 71712367 single base substitution G C intron_variant BRCA-EU 9 71712765 71712765 single base substitution G C intron_variant BRCA-EU 9 71713443 71713443 single base substitution G A intron_variant BRCA-EU 9 71713504 71713504 single base substitution C T intron_variant BRCA-EU 9 71713936 71713936 single base substitution G A intron_variant BRCA-EU 9 71713942 71713942 single base substitution G A intron_variant BRCA-EU 9 71714499 71714499 single base substitution C T intron_variant BRCA-EU 9 71715170 71715170 single base substitution G C downstream_gene_variant BRCA-EU 9 71715544 71715544 single base substitution G A downstream_gene_variant BRCA-EU 9 71715624 71715624 single base substitution G T downstream_gene_variant BRCA-EU 9 71719671 71719671 single base substitution T C downstream_gene_variant BRCA-FR 9 71696105 71696105 single base substitution T G intron_variant BRCA-FR 9 71712765 71712765 single base substitution G C intron_variant BRCA-FR 9 71713504 71713504 single base substitution C T intron_variant BRCA-FR 9 71713936 71713936 single base substitution G A intron_variant BRCA-FR 9 71719671 71719671 single base substitution T C downstream_gene_variant BRCA-UK 9 71647965 71647965 single base substitution G C upstream_gene_variant BRCA-UK 9 71663487 71663487 single base substitution C A intron_variant BRCA-UK 9 71664255 71664255 single base substitution C G intron_variant BRCA-UK 9 71664388 71664388 single base substitution C T intron_variant BRCA-UK 9 71672107 71672107 single base substitution T G intron_variant BRCA-UK 9 71695897 71695897 single base substitution G T intron_variant BRCA-UK 9 71701555 71701555 single base substitution T A intron_variant BRCA-UK 9 71720012 71720012 single base substitution C T downstream_gene_variant BTCA-JP 9 71661313 71661313 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 9 71661313 71661313 single base substitution C T missense_variant R60C 178C>T BTCA-JP 9 71661313 71661313 single base substitution C T upstream_gene_variant BTCA-JP 9 71686124 71686124 single base substitution C T intron_variant CLLE-ES 9 71646746 71646746 single base substitution A G upstream_gene_variant CLLE-ES 9 71716172 71716172 single base substitution G T downstream_gene_variant CLLE-ES 9 71719478 71719478 single base substitution T C downstream_gene_variant COAD-US 9 71668112 71668112 single base substitution C T intron_variant COAD-US 9 71668112 71668112 single base substitution C T missense_variant A107V 320C>T COAD-US 9 71668112 71668112 single base substitution C T missense_variant A32V 95C>T COCA-CN 9 71652186 71652186 single base substitution C A intron_variant COCA-CN 9 71654436 71654436 single base substitution C A intron_variant COCA-CN 9 71661234 71661234 single base substitution A G intron_variant COCA-CN 9 71661234 71661234 single base substitution A G upstream_gene_variant COCA-CN 9 71661374 71661374 single base substitution A C missense_variant E17D 51A>C COCA-CN 9 71661374 71661374 single base substitution A C missense_variant K5T 14A>C COCA-CN 9 71661374 71661374 single base substitution A C missense_variant K80T 239A>C COCA-CN 9 71661391 71661391 single base substitution C T missense_variant H11Y 31C>T COCA-CN 9 71661391 71661391 single base substitution C T missense_variant H86Y 256C>T COCA-CN 9 71661391 71661391 single base substitution C T missense_variant P23L 68C>T COCA-CN 9 71667986 71667986 single base substitution G A intron_variant COCA-CN 9 71668010 71668010 single base substitution G T intron_variant COCA-CN 9 71668191 71668191 single base substitution C A intron_variant COCA-CN 9 71678535 71678535 single base substitution A G intron_variant COCA-CN 9 71687556 71687556 single base substitution A G intron_variant COCA-CN 9 71687556 71687556 single base substitution A G missense_variant K171E 511A>G COCA-CN 9 71687556 71687556 single base substitution A G missense_variant K68E 202A>G COCA-CN 9 71687556 71687556 single base substitution A G missense_variant K96E 286A>G COCA-CN 9 71687556 71687556 single base substitution A G synonymous_variant G173G 519A>G COCA-CN 9 71687706 71687706 single base substitution A C 3_prime_UTR_variant COCA-CN 9 71687706 71687706 single base substitution A C intron_variant COCA-CN 9 71689113 71689113 single base substitution C T 3_prime_UTR_variant COCA-CN 9 71689113 71689113 single base substitution C T downstream_gene_variant COCA-CN 9 71689113 71689113 single base substitution C T intron_variant COCA-CN 9 71703370 71703370 single base substitution T A intron_variant COCA-CN 9 71703390 71703390 single base substitution G T intron_variant COCA-CN 9 71703404 71703404 single base substitution A G intron_variant COCA-CN 9 71703412 71703412 single base substitution C G intron_variant COCA-CN 9 71716634 71716634 single base substitution A G downstream_gene_variant COCA-CN 9 71718975 71718975 single base substitution G T downstream_gene_variant EOPC-DE 9 71651868 71651868 single base substitution C G intron_variant ESAD-UK 9 71645592 71645592 single base substitution C T upstream_gene_variant ESAD-UK 9 71646755 71646755 single base substitution C A upstream_gene_variant ESAD-UK 9 71647448 71647448 single base substitution G C upstream_gene_variant ESAD-UK 9 71648403 71648403 single base substitution C T upstream_gene_variant ESAD-UK 9 71651405 71651405 single base substitution C G intron_variant ESAD-UK 9 71654297 71654297 single base substitution C T intron_variant ESAD-UK 9 71655071 71655071 insertion of <=200bp - T intron_variant ESAD-UK 9 71655445 71655445 single base substitution G A intron_variant ESAD-UK 9 71656230 71656230 single base substitution G A intron_variant ESAD-UK 9 71656486 71656486 single base substitution A T intron_variant ESAD-UK 9 71656486 71656486 single base substitution A T upstream_gene_variant ESAD-UK 9 71656650 71656650 single base substitution G A intron_variant ESAD-UK 9 71656650 71656650 single base substitution G A upstream_gene_variant ESAD-UK 9 71657026 71657026 single base substitution C T intron_variant ESAD-UK 9 71657026 71657026 single base substitution C T upstream_gene_variant ESAD-UK 9 71660623 71660623 deletion of <=200bp A - intron_variant ESAD-UK 9 71660623 71660623 deletion of <=200bp A - upstream_gene_variant ESAD-UK 9 71662363 71662363 single base substitution C T intron_variant ESAD-UK 9 71663489 71663489 single base substitution C G intron_variant ESAD-UK 9 71678658 71678658 single base substitution G A intron_variant ESAD-UK 9 71680790 71680790 single base substitution C T intron_variant ESAD-UK 9 71683461 71683461 single base substitution A C intron_variant ESAD-UK 9 71685719 71685719 single base substitution T G intron_variant ESAD-UK 9 71685992 71685992 single base substitution A G intron_variant ESAD-UK 9 71688476 71688476 single base substitution T G 3_prime_UTR_variant ESAD-UK 9 71688476 71688476 single base substitution T G downstream_gene_variant ESAD-UK 9 71688476 71688476 single base substitution T G intron_variant ESAD-UK 9 71688827 71688827 single base substitution C T 3_prime_UTR_variant ESAD-UK 9 71688827 71688827 single base substitution C T downstream_gene_variant ESAD-UK 9 71688827 71688827 single base substitution C T intron_variant ESAD-UK 9 71695119 71695119 single base substitution G A intron_variant ESAD-UK 9 71696271 71696271 single base substitution A G intron_variant ESAD-UK 9 71704457 71704457 single base substitution G A intron_variant ESAD-UK 9 71705784 71705784 single base substitution C T intron_variant ESAD-UK 9 71706094 71706094 insertion of <=200bp - TG intron_variant ESAD-UK 9 71706932 71706932 single base substitution G A intron_variant ESAD-UK 9 71707321 71707321 single base substitution G A intron_variant ESAD-UK 9 71707601 71707601 single base substitution G A intron_variant ESAD-UK 9 71709812 71709812 single base substitution C A intron_variant ESAD-UK 9 71711609 71711609 insertion of <=200bp - A intron_variant ESAD-UK 9 71711751 71711751 single base substitution T C intron_variant ESAD-UK 9 71716173 71716178 deletion of <=200bp TTGTTT - downstream_gene_variant ESAD-UK 9 71717999 71717999 single base substitution C T downstream_gene_variant ESCA-CN 9 71686181 71686181 single base substitution T C intron_variant ESCA-CN 9 71687440 71687440 single base substitution C T intron_variant GBM-US 9 71687595 71687595 single base substitution G T intron_variant GBM-US 9 71687595 71687595 single base substitution G T missense_variant M186I 558G>T GBM-US 9 71687595 71687595 single base substitution G T stop_gained E109* 325G>T GBM-US 9 71687595 71687595 single base substitution G T stop_gained E184* 550G>T GBM-US 9 71687595 71687595 single base substitution G T stop_gained E81* 241G>T LAML-KR 9 71668197 71668197 single base substitution T C intron_variant LAML-KR 9 71686181 71686181 single base substitution T C intron_variant LAML-KR 9 71716163 71716163 single base substitution G T downstream_gene_variant LICA-FR 9 71646029 71646029 single base substitution G C upstream_gene_variant LICA-FR 9 71683101 71683101 single base substitution A G intron_variant LICA-FR 9 71691148 71691148 insertion of <=200bp - A downstream_gene_variant LICA-FR 9 71691148 71691148 insertion of <=200bp - A intron_variant LICA-FR 9 71694443 71694443 single base substitution G T intron_variant LICA-FR 9 71713417 71713417 single base substitution A G intron_variant LICA-FR 9 71716646 71716646 single base substitution C T downstream_gene_variant LIHC-US 9 71668103 71668103 single base substitution A G intron_variant LIHC-US 9 71668103 71668103 single base substitution A G missense_variant D104G 311A>G LIHC-US 9 71668103 71668103 single base substitution A G missense_variant D29G 86A>G LINC-JP 9 71654494 71654494 single base substitution A C intron_variant LINC-JP 9 71658453 71658453 single base substitution G A intron_variant LINC-JP 9 71658453 71658453 single base substitution G A upstream_gene_variant LINC-JP 9 71660191 71660191 deletion of <=200bp A - intron_variant LINC-JP 9 71660191 71660191 deletion of <=200bp A - upstream_gene_variant LINC-JP 9 71668453 71668453 single base substitution C A intron_variant LINC-JP 9 71668455 71668455 single base substitution G A intron_variant LINC-JP 9 71675447 71675447 single base substitution T A intron_variant LINC-JP 9 71692449 71692450 deletion of <=200bp GC - downstream_gene_variant LINC-JP 9 71692449 71692450 deletion of <=200bp GC - intron_variant LINC-JP 9 71693417 71693417 deletion of <=200bp G - downstream_gene_variant LINC-JP 9 71693417 71693417 deletion of <=200bp G - intron_variant LINC-JP 9 71706265 71706265 single base substitution G A intron_variant LINC-JP 9 71710698 71710698 single base substitution G T intron_variant LINC-JP 9 71716308 71716308 single base substitution G A downstream_gene_variant LINC-JP 9 71719858 71719858 single base substitution G T downstream_gene_variant LIRI-JP 9 71646599 71646599 single base substitution C A upstream_gene_variant LIRI-JP 9 71646937 71646937 single base substitution G T upstream_gene_variant LIRI-JP 9 71647221 71647221 single base substitution G T upstream_gene_variant LIRI-JP 9 71650032 71650032 single base substitution C T upstream_gene_variant LIRI-JP 9 71650423 71650423 single base substitution G A 5_prime_UTR_variant LIRI-JP 9 71650423 71650423 single base substitution G A upstream_gene_variant LIRI-JP 9 71653102 71653102 single base substitution T A intron_variant LIRI-JP 9 71654416 71654416 single base substitution A G intron_variant LIRI-JP 9 71654762 71654762 single base substitution A C intron_variant LIRI-JP 9 71657009 71657009 single base substitution C T intron_variant LIRI-JP 9 71657009 71657009 single base substitution C T upstream_gene_variant LIRI-JP 9 71657351 71657351 single base substitution C T intron_variant LIRI-JP 9 71657351 71657351 single base substitution C T upstream_gene_variant LIRI-JP 9 71658353 71658353 single base substitution A G intron_variant LIRI-JP 9 71658353 71658353 single base substitution A G upstream_gene_variant LIRI-JP 9 71659052 71659052 single base substitution C A intron_variant LIRI-JP 9 71659052 71659052 single base substitution C A upstream_gene_variant LIRI-JP 9 71666709 71666709 single base substitution A G intron_variant LIRI-JP 9 71667928 71667928 single base substitution A G intron_variant LIRI-JP 9 71672570 71672570 single base substitution C T intron_variant LIRI-JP 9 71674125 71674125 single base substitution G A intron_variant LIRI-JP 9 71674647 71674647 single base substitution T C intron_variant LIRI-JP 9 71675049 71675049 single base substitution C T intron_variant LIRI-JP 9 71675114 71675114 single base substitution C A intron_variant LIRI-JP 9 71675142 71675142 single base substitution C T intron_variant LIRI-JP 9 71676159 71676159 single base substitution A G intron_variant LIRI-JP 9 71678124 71678124 single base substitution A C intron_variant LIRI-JP 9 71679047 71679059 deletion of <=200bp TTACCAGTTCAAA - intron_variant LIRI-JP 9 71680422 71680422 single base substitution A G intron_variant LIRI-JP 9 71681885 71681885 single base substitution C T intron_variant LIRI-JP 9 71684746 71684746 single base substitution G C intron_variant LIRI-JP 9 71685176 71685176 single base substitution G T intron_variant LIRI-JP 9 71685396 71685396 single base substitution G A intron_variant LIRI-JP 9 71687770 71687770 single base substitution G T 3_prime_UTR_variant LIRI-JP 9 71687770 71687770 single base substitution G T downstream_gene_variant LIRI-JP 9 71687770 71687770 single base substitution G T intron_variant LIRI-JP 9 71690675 71690675 single base substitution C A downstream_gene_variant LIRI-JP 9 71690675 71690675 single base substitution C A intron_variant LIRI-JP 9 71695086 71695086 single base substitution C T intron_variant LIRI-JP 9 71696078 71696078 single base substitution A T intron_variant LIRI-JP 9 71699346 71699346 single base substitution A G intron_variant LIRI-JP 9 71700059 71700064 deletion of <=200bp TACAGA - intron_variant LIRI-JP 9 71704730 71704730 single base substitution G T intron_variant LIRI-JP 9 71705632 71705632 single base substitution C T intron_variant LIRI-JP 9 71706179 71706179 single base substitution A G intron_variant LIRI-JP 9 71707600 71707600 single base substitution C T intron_variant LIRI-JP 9 71710134 71710134 single base substitution C T intron_variant LIRI-JP 9 71712810 71712810 single base substitution C T intron_variant LIRI-JP 9 71715234 71715234 single base substitution G T downstream_gene_variant LIRI-JP 9 71715416 71715416 single base substitution T A downstream_gene_variant LUSC-KR 9 71649745 71649745 single base substitution G T upstream_gene_variant LUSC-KR 9 71649961 71649961 single base substitution T G upstream_gene_variant LUSC-KR 9 71652603 71652603 single base substitution T G intron_variant LUSC-KR 9 71663772 71663772 single base substitution A T intron_variant LUSC-KR 9 71667986 71667986 single base substitution G A intron_variant LUSC-KR 9 71668431 71668431 single base substitution A G intron_variant LUSC-KR 9 71669623 71669623 single base substitution A T intron_variant LUSC-KR 9 71675885 71675885 single base substitution C T intron_variant LUSC-KR 9 71677351 71677351 single base substitution A T intron_variant LUSC-KR 9 71688476 71688476 single base substitution T G 3_prime_UTR_variant LUSC-KR 9 71688476 71688476 single base substitution T G downstream_gene_variant LUSC-KR 9 71688476 71688476 single base substitution T G intron_variant LUSC-KR 9 71693079 71693079 single base substitution C G downstream_gene_variant LUSC-KR 9 71693079 71693079 single base substitution C G intron_variant LUSC-KR 9 71693085 71693085 single base substitution G C downstream_gene_variant LUSC-KR 9 71693085 71693085 single base substitution G C intron_variant LUSC-KR 9 71698732 71698732 single base substitution G T intron_variant LUSC-KR 9 71711040 71711040 single base substitution T A intron_variant LUSC-KR 9 71712210 71712210 single base substitution C G intron_variant LUSC-KR 9 71715066 71715066 single base substitution C G 3_prime_UTR_variant LUSC-KR 9 71715145 71715145 single base substitution A G downstream_gene_variant LUSC-KR 9 71715271 71715271 single base substitution G A downstream_gene_variant LUSC-KR 9 71715321 71715321 single base substitution G C downstream_gene_variant LUSC-KR 9 71715357 71715357 single base substitution G A downstream_gene_variant LUSC-US 9 71687670 71687670 single base substitution G C 3_prime_UTR_variant LUSC-US 9 71687670 71687670 single base substitution G C intron_variant LUSC-US 9 71687670 71687670 single base substitution G C missense_variant D106H 316G>C LUSC-US 9 71687670 71687670 single base substitution G C missense_variant D134H 400G>C LUSC-US 9 71687670 71687670 single base substitution G C missense_variant D209H 625G>C MALY-DE 9 71656062 71656062 single base substitution C T intron_variant MALY-DE 9 71658835 71658835 single base substitution C T intron_variant MALY-DE 9 71658835 71658835 single base substitution C T upstream_gene_variant MALY-DE 9 71666771 71666771 single base substitution G T intron_variant MALY-DE 9 71675581 71675581 single base substitution A G intron_variant MALY-DE 9 71678704 71678704 single base substitution A T intron_variant MALY-DE 9 71685033 71685033 single base substitution T C intron_variant MALY-DE 9 71691904 71691904 single base substitution C T downstream_gene_variant MALY-DE 9 71691904 71691904 single base substitution C T intron_variant MALY-DE 9 71703462 71703465 deletion of <=200bp CCGG - intron_variant MALY-DE 9 71708155 71708155 single base substitution T C intron_variant MALY-DE 9 71715818 71715818 single base substitution T G downstream_gene_variant MALY-DE 9 71718265 71718265 single base substitution C T downstream_gene_variant MALY-DE 9 71719928 71719928 single base substitution T C downstream_gene_variant MELA-AU 9 71645560 71645560 single base substitution G A upstream_gene_variant MELA-AU 9 71645670 71645670 single base substitution G A upstream_gene_variant MELA-AU 9 71646041 71646041 single base substitution G A upstream_gene_variant MELA-AU 9 71646042 71646042 single base substitution G A upstream_gene_variant MELA-AU 9 71646590 71646591 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 9 71647030 71647030 single base substitution G A upstream_gene_variant MELA-AU 9 71647287 71647287 single base substitution G A upstream_gene_variant MELA-AU 9 71647358 71647358 single base substitution G A upstream_gene_variant MELA-AU 9 71647996 71647996 single base substitution C T upstream_gene_variant MELA-AU 9 71648113 71648113 single base substitution C T upstream_gene_variant MELA-AU 9 71648620 71648620 single base substitution G A upstream_gene_variant MELA-AU 9 71649316 71649316 single base substitution G A upstream_gene_variant MELA-AU 9 71649722 71649722 single base substitution C A upstream_gene_variant MELA-AU 9 71650050 71650050 single base substitution C T upstream_gene_variant MELA-AU 9 71650200 71650200 single base substitution C T 5_prime_UTR_variant MELA-AU 9 71650200 71650200 single base substitution C T upstream_gene_variant MELA-AU 9 71650443 71650443 single base substitution G C 5_prime_UTR_variant MELA-AU 9 71650443 71650443 single base substitution G C upstream_gene_variant MELA-AU 9 71651813 71651813 single base substitution G C intron_variant MELA-AU 9 71652275 71652275 single base substitution C T intron_variant MELA-AU 9 71652375 71652375 single base substitution C T intron_variant MELA-AU 9 71652555 71652555 single base substitution T C intron_variant MELA-AU 9 71653187 71653187 single base substitution C T intron_variant MELA-AU 9 71653475 71653475 single base substitution C T intron_variant MELA-AU 9 71654460 71654460 single base substitution C T intron_variant MELA-AU 9 71654527 71654527 single base substitution C T intron_variant MELA-AU 9 71654830 71654830 single base substitution C T intron_variant MELA-AU 9 71655774 71655774 single base substitution C T intron_variant MELA-AU 9 71656278 71656279 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 71657506 71657506 single base substitution T A intron_variant MELA-AU 9 71657506 71657506 single base substitution T A upstream_gene_variant MELA-AU 9 71659451 71659451 single base substitution C T intron_variant MELA-AU 9 71659451 71659451 single base substitution C T upstream_gene_variant MELA-AU 9 71659587 71659587 single base substitution C T intron_variant MELA-AU 9 71659587 71659587 single base substitution C T upstream_gene_variant MELA-AU 9 71660905 71660905 single base substitution C T intron_variant MELA-AU 9 71660905 71660905 single base substitution C T upstream_gene_variant MELA-AU 9 71662028 71662028 single base substitution C T intron_variant MELA-AU 9 71662184 71662184 single base substitution C T intron_variant MELA-AU 9 71662445 71662448 deletion of <=200bp CAGC - intron_variant MELA-AU 9 71662553 71662554 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 71662652 71662652 single base substitution T A intron_variant MELA-AU 9 71662833 71662833 single base substitution C T intron_variant MELA-AU 9 71663554 71663554 single base substitution C T intron_variant MELA-AU 9 71663588 71663588 single base substitution T C intron_variant MELA-AU 9 71664607 71664607 single base substitution T G intron_variant MELA-AU 9 71664727 71664727 single base substitution C T intron_variant MELA-AU 9 71665123 71665123 single base substitution C T intron_variant MELA-AU 9 71666112 71666112 single base substitution C T intron_variant MELA-AU 9 71668435 71668435 single base substitution A G intron_variant MELA-AU 9 71668566 71668566 single base substitution C T intron_variant MELA-AU 9 71668880 71668880 single base substitution G A intron_variant MELA-AU 9 71669001 71669001 single base substitution C T intron_variant MELA-AU 9 71669167 71669167 single base substitution C T intron_variant MELA-AU 9 71669171 71669171 single base substitution C T intron_variant MELA-AU 9 71669299 71669299 single base substitution C T intron_variant MELA-AU 9 71670168 71670168 single base substitution G A intron_variant MELA-AU 9 71670198 71670198 single base substitution C T intron_variant MELA-AU 9 71671094 71671094 single base substitution C T intron_variant MELA-AU 9 71671101 71671101 single base substitution C T intron_variant MELA-AU 9 71671157 71671157 single base substitution G A intron_variant MELA-AU 9 71671699 71671699 single base substitution C T intron_variant MELA-AU 9 71672924 71672924 single base substitution G C intron_variant MELA-AU 9 71673399 71673399 single base substitution A C intron_variant MELA-AU 9 71673906 71673907 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 71674520 71674520 single base substitution C T intron_variant MELA-AU 9 71674580 71674580 single base substitution C T intron_variant MELA-AU 9 71674714 71674714 single base substitution C G intron_variant MELA-AU 9 71675138 71675138 single base substitution T C intron_variant MELA-AU 9 71676052 71676052 single base substitution G A intron_variant MELA-AU 9 71678722 71678722 single base substitution C T intron_variant MELA-AU 9 71678848 71678849 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 71679244 71679244 single base substitution C T intron_variant MELA-AU 9 71680204 71680204 single base substitution C T intron_variant MELA-AU 9 71680477 71680477 single base substitution C T intron_variant MELA-AU 9 71682199 71682200 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 71682217 71682217 single base substitution C T intron_variant MELA-AU 9 71682293 71682293 single base substitution C T intron_variant MELA-AU 9 71682357 71682357 single base substitution T C intron_variant MELA-AU 9 71682495 71682495 single base substitution C T intron_variant MELA-AU 9 71682808 71682808 single base substitution C T intron_variant MELA-AU 9 71682995 71682996 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 71683354 71683354 deletion of <=200bp C - intron_variant MELA-AU 9 71683687 71683687 single base substitution C T intron_variant MELA-AU 9 71683935 71683935 single base substitution C T intron_variant MELA-AU 9 71684437 71684437 single base substitution C T intron_variant MELA-AU 9 71684542 71684542 single base substitution C T intron_variant MELA-AU 9 71684861 71684861 single base substitution G A intron_variant MELA-AU 9 71684892 71684892 single base substitution C T intron_variant MELA-AU 9 71684978 71684978 single base substitution C T intron_variant MELA-AU 9 71685391 71685391 single base substitution G A intron_variant MELA-AU 9 71685730 71685730 single base substitution T C intron_variant MELA-AU 9 71687021 71687021 single base substitution T G intron_variant MELA-AU 9 71687662 71687662 single base substitution C T 3_prime_UTR_variant MELA-AU 9 71687662 71687662 single base substitution C T intron_variant MELA-AU 9 71687662 71687662 single base substitution C T missense_variant S103F 308C>T MELA-AU 9 71687662 71687662 single base substitution C T missense_variant S131F 392C>T MELA-AU 9 71687662 71687662 single base substitution C T missense_variant S206F 617C>T MELA-AU 9 71688847 71688847 single base substitution C T 3_prime_UTR_variant MELA-AU 9 71688847 71688847 single base substitution C T downstream_gene_variant MELA-AU 9 71688847 71688847 single base substitution C T intron_variant MELA-AU 9 71689116 71689116 single base substitution T A 3_prime_UTR_variant MELA-AU 9 71689116 71689116 single base substitution T A downstream_gene_variant MELA-AU 9 71689116 71689116 single base substitution T A intron_variant MELA-AU 9 71689118 71689118 single base substitution T A 3_prime_UTR_variant MELA-AU 9 71689118 71689118 single base substitution T A downstream_gene_variant MELA-AU 9 71689118 71689118 single base substitution T A intron_variant MELA-AU 9 71689961 71689961 single base substitution C T downstream_gene_variant MELA-AU 9 71689961 71689961 single base substitution C T intron_variant MELA-AU 9 71689980 71689980 single base substitution T G downstream_gene_variant MELA-AU 9 71689980 71689980 single base substitution T G intron_variant MELA-AU 9 71691257 71691257 single base substitution G C downstream_gene_variant MELA-AU 9 71691257 71691257 single base substitution G C intron_variant MELA-AU 9 71691266 71691266 single base substitution C T downstream_gene_variant MELA-AU 9 71691266 71691266 single base substitution C T intron_variant MELA-AU 9 71691367 71691367 single base substitution C T downstream_gene_variant MELA-AU 9 71691367 71691367 single base substitution C T intron_variant MELA-AU 9 71691983 71691983 single base substitution C T downstream_gene_variant MELA-AU 9 71691983 71691983 single base substitution C T intron_variant MELA-AU 9 71692207 71692207 single base substitution C T downstream_gene_variant MELA-AU 9 71692207 71692207 single base substitution C T intron_variant MELA-AU 9 71692267 71692267 single base substitution C T downstream_gene_variant MELA-AU 9 71692267 71692267 single base substitution C T intron_variant MELA-AU 9 71692632 71692632 single base substitution G A downstream_gene_variant MELA-AU 9 71692632 71692632 single base substitution G A intron_variant MELA-AU 9 71693383 71693383 single base substitution T G downstream_gene_variant MELA-AU 9 71693383 71693383 single base substitution T G intron_variant MELA-AU 9 71694202 71694202 single base substitution C T intron_variant MELA-AU 9 71695443 71695443 single base substitution C T intron_variant MELA-AU 9 71695662 71695662 single base substitution G A intron_variant MELA-AU 9 71695823 71695823 single base substitution C T intron_variant MELA-AU 9 71695832 71695832 single base substitution C T intron_variant MELA-AU 9 71696585 71696585 single base substitution G A intron_variant MELA-AU 9 71696633 71696633 single base substitution G A intron_variant MELA-AU 9 71697084 71697084 single base substitution G A intron_variant MELA-AU 9 71697107 71697107 single base substitution C T intron_variant MELA-AU 9 71697378 71697378 single base substitution A G intron_variant MELA-AU 9 71697961 71697961 single base substitution C T intron_variant MELA-AU 9 71698748 71698748 single base substitution C T intron_variant MELA-AU 9 71698910 71698910 single base substitution C T intron_variant MELA-AU 9 71698955 71698955 single base substitution C T intron_variant MELA-AU 9 71699384 71699384 single base substitution C T intron_variant MELA-AU 9 71700377 71700377 single base substitution G A intron_variant MELA-AU 9 71701110 71701110 single base substitution C T intron_variant MELA-AU 9 71701724 71701724 single base substitution A C intron_variant MELA-AU 9 71701992 71701992 single base substitution C T intron_variant MELA-AU 9 71702525 71702525 single base substitution G T intron_variant MELA-AU 9 71702650 71702650 single base substitution C T intron_variant MELA-AU 9 71703501 71703501 single base substitution G A intron_variant MELA-AU 9 71703601 71703601 single base substitution C A intron_variant MELA-AU 9 71703722 71703722 single base substitution C T intron_variant MELA-AU 9 71703880 71703880 single base substitution C T intron_variant MELA-AU 9 71704621 71704621 single base substitution C T intron_variant MELA-AU 9 71704943 71704943 single base substitution C T intron_variant MELA-AU 9 71704947 71704947 single base substitution C T intron_variant MELA-AU 9 71705364 71705364 single base substitution C T intron_variant MELA-AU 9 71705365 71705365 single base substitution C T intron_variant MELA-AU 9 71705695 71705695 single base substitution C T intron_variant MELA-AU 9 71706045 71706055 deletion of <=200bp TTGGTTTTGTT - intron_variant MELA-AU 9 71707756 71707756 single base substitution C T intron_variant MELA-AU 9 71708632 71708632 single base substitution C T intron_variant MELA-AU 9 71708737 71708737 single base substitution C T intron_variant MELA-AU 9 71708897 71708897 single base substitution C T intron_variant MELA-AU 9 71709240 71709240 single base substitution C T intron_variant MELA-AU 9 71710134 71710134 single base substitution C T intron_variant MELA-AU 9 71710330 71710330 single base substitution G A intron_variant MELA-AU 9 71711216 71711216 single base substitution C T intron_variant MELA-AU 9 71711606 71711606 insertion of <=200bp - AAT intron_variant MELA-AU 9 71711782 71711782 single base substitution G A intron_variant MELA-AU 9 71711787 71711787 single base substitution C T intron_variant MELA-AU 9 71712165 71712165 single base substitution C T intron_variant MELA-AU 9 71712435 71712435 single base substitution G A intron_variant MELA-AU 9 71712815 71712815 single base substitution C T intron_variant MELA-AU 9 71713590 71713590 single base substitution C T intron_variant MELA-AU 9 71713728 71713728 single base substitution C T intron_variant MELA-AU 9 71713998 71713998 single base substitution T G intron_variant MELA-AU 9 71714012 71714012 single base substitution G A intron_variant MELA-AU 9 71714592 71714592 single base substitution C T intron_variant MELA-AU 9 71714695 71714695 single base substitution G A intron_variant MELA-AU 9 71715116 71715116 single base substitution T C downstream_gene_variant MELA-AU 9 71715395 71715395 single base substitution C T downstream_gene_variant MELA-AU 9 71716029 71716029 single base substitution G A downstream_gene_variant MELA-AU 9 71716375 71716375 single base substitution G A downstream_gene_variant MELA-AU 9 71716404 71716404 single base substitution C T downstream_gene_variant MELA-AU 9 71717234 71717234 single base substitution C T downstream_gene_variant MELA-AU 9 71717554 71717554 single base substitution C T downstream_gene_variant MELA-AU 9 71718395 71718395 single base substitution C T downstream_gene_variant MELA-AU 9 71719553 71719553 single base substitution T G downstream_gene_variant MELA-AU 9 71719838 71719838 single base substitution T C downstream_gene_variant ORCA-IN 9 71646944 71646944 single base substitution G A upstream_gene_variant ORCA-IN 9 71675723 71675723 single base substitution T A intron_variant ORCA-IN 9 71704466 71704466 single base substitution C G intron_variant OV-AU 9 71647021 71647021 single base substitution T C upstream_gene_variant OV-AU 9 71649624 71649624 single base substitution G C upstream_gene_variant OV-AU 9 71649895 71649895 single base substitution G C upstream_gene_variant OV-AU 9 71660760 71660760 single base substitution G C intron_variant OV-AU 9 71660760 71660760 single base substitution G C upstream_gene_variant OV-AU 9 71664062 71664062 single base substitution C G intron_variant OV-AU 9 71669121 71669121 single base substitution G T intron_variant OV-AU 9 71672176 71672176 single base substitution T G intron_variant OV-AU 9 71676942 71676942 single base substitution C A intron_variant OV-AU 9 71691387 71691387 single base substitution A T downstream_gene_variant OV-AU 9 71691387 71691387 single base substitution A T intron_variant OV-AU 9 71695189 71695189 single base substitution A G intron_variant OV-AU 9 71695742 71695742 single base substitution G T intron_variant OV-AU 9 71704396 71704396 single base substitution G C intron_variant OV-AU 9 71716313 71716313 single base substitution C A downstream_gene_variant PACA-AU 9 71649859 71649859 single base substitution G A upstream_gene_variant PACA-AU 9 71658136 71658136 single base substitution T C intron_variant PACA-AU 9 71658136 71658136 single base substitution T C upstream_gene_variant PACA-AU 9 71660131 71660131 single base substitution T C intron_variant PACA-AU 9 71660131 71660131 single base substitution T C upstream_gene_variant PACA-AU 9 71667814 71667814 single base substitution C T intron_variant PACA-AU 9 71668080 71668080 single base substitution A G intron_variant PACA-AU 9 71668080 71668080 single base substitution A G synonymous_variant E21E 63A>G PACA-AU 9 71668080 71668080 single base substitution A G synonymous_variant E96E 288A>G PACA-AU 9 71671873 71671873 single base substitution T A intron_variant PACA-AU 9 71671878 71671878 single base substitution T A intron_variant PACA-AU 9 71673435 71673435 deletion of <=200bp T - intron_variant PACA-AU 9 71673780 71673785 deletion of <=200bp CGAGAC - intron_variant PACA-AU 9 71675581 71675581 single base substitution A G intron_variant PACA-AU 9 71678108 71678108 single base substitution G T intron_variant PACA-AU 9 71678882 71678882 single base substitution G A intron_variant PACA-AU 9 71694611 71694611 single base substitution C T intron_variant PACA-AU 9 71698509 71698509 single base substitution C T intron_variant PACA-AU 9 71699076 71699076 insertion of <=200bp - A intron_variant PACA-AU 9 71706394 71706394 single base substitution G A intron_variant PACA-AU 9 71706699 71706699 single base substitution A G intron_variant PACA-AU 9 71708612 71708612 single base substitution A T intron_variant PACA-CA 9 71645974 71645974 single base substitution A G upstream_gene_variant PACA-CA 9 71649503 71649503 single base substitution C A upstream_gene_variant PACA-CA 9 71649765 71649765 single base substitution G A upstream_gene_variant PACA-CA 9 71651155 71651155 single base substitution G A intron_variant PACA-CA 9 71652853 71652853 single base substitution C G intron_variant PACA-CA 9 71654639 71654639 single base substitution A G intron_variant PACA-CA 9 71661348 71661348 single base substitution G A 5_prime_UTR_variant PACA-CA 9 71661348 71661348 single base substitution G A missense_variant E9K 25G>A PACA-CA 9 71661348 71661348 single base substitution G A synonymous_variant Q71Q 213G>A PACA-CA 9 71663248 71663248 single base substitution C T intron_variant PACA-CA 9 71667579 71667579 single base substitution C G intron_variant PACA-CA 9 71667778 71667778 single base substitution C T intron_variant PACA-CA 9 71677370 71677370 single base substitution A T intron_variant PACA-CA 9 71678778 71678778 single base substitution T G intron_variant PACA-CA 9 71678790 71678790 single base substitution G C intron_variant PACA-CA 9 71687663 71687663 single base substitution C T 3_prime_UTR_variant PACA-CA 9 71687663 71687663 single base substitution C T intron_variant PACA-CA 9 71687663 71687663 single base substitution C T synonymous_variant S103S 309C>T PACA-CA 9 71687663 71687663 single base substitution C T synonymous_variant S131S 393C>T PACA-CA 9 71687663 71687663 single base substitution C T synonymous_variant S206S 618C>T PACA-CA 9 71689757 71689757 single base substitution G A downstream_gene_variant PACA-CA 9 71689757 71689757 single base substitution G A intron_variant PACA-CA 9 71690237 71690237 single base substitution G A downstream_gene_variant PACA-CA 9 71690237 71690237 single base substitution G A intron_variant PACA-CA 9 71690950 71690950 single base substitution T A downstream_gene_variant PACA-CA 9 71690950 71690950 single base substitution T A intron_variant PACA-CA 9 71693519 71693519 single base substitution T C downstream_gene_variant PACA-CA 9 71693519 71693519 single base substitution T C intron_variant PACA-CA 9 71696435 71696435 single base substitution C T intron_variant PACA-CA 9 71698315 71698315 single base substitution A T intron_variant PACA-CA 9 71698534 71698534 single base substitution T A intron_variant PACA-CA 9 71699892 71699892 single base substitution A C intron_variant PACA-CA 9 71705287 71705287 single base substitution C A intron_variant PACA-CA 9 71706170 71706170 deletion of <=200bp A - intron_variant PACA-CA 9 71707322 71707322 deletion of <=200bp T - intron_variant PACA-CA 9 71708110 71708110 insertion of <=200bp - T intron_variant PACA-CA 9 71710829 71710829 deletion of <=200bp G - intron_variant PACA-CA 9 71715964 71715964 single base substitution G A downstream_gene_variant PACA-CA 9 71718034 71718034 single base substitution G T downstream_gene_variant PAEN-AU 9 71649961 71649961 single base substitution T G upstream_gene_variant PAEN-AU 9 71660642 71660642 single base substitution C T intron_variant PAEN-AU 9 71660642 71660642 single base substitution C T upstream_gene_variant PAEN-AU 9 71711606 71711606 insertion of <=200bp - AATAATAATAAT intron_variant PAEN-AU 9 71714950 71714950 single base substitution C A 3_prime_UTR_variant PAEN-IT 9 71659411 71659411 single base substitution G A intron_variant PAEN-IT 9 71659411 71659411 single base substitution G A upstream_gene_variant PAEN-IT 9 71682755 71682755 single base substitution G T intron_variant PAEN-IT 9 71690670 71690670 single base substitution A G downstream_gene_variant PAEN-IT 9 71690670 71690670 single base substitution A G intron_variant PBCA-DE 9 71652253 71652253 single base substitution G A intron_variant PBCA-DE 9 71657659 71657659 single base substitution G T intron_variant PBCA-DE 9 71657659 71657659 single base substitution G T upstream_gene_variant PBCA-DE 9 71662267 71662268 deletion of <=200bp AC - intron_variant PBCA-DE 9 71664440 71664440 single base substitution C T intron_variant PBCA-DE 9 71669398 71669398 single base substitution G A intron_variant PBCA-DE 9 71705643 71705643 single base substitution T C intron_variant PBCA-DE 9 71706614 71706614 single base substitution C T intron_variant PBCA-DE 9 71712098 71712098 single base substitution C T intron_variant PBCA-DE 9 71713622 71713622 single base substitution A G intron_variant PBCA-DE 9 71713728 71713728 single base substitution C T intron_variant PRAD-CA 9 71647509 71647509 single base substitution T C upstream_gene_variant PRAD-CA 9 71648151 71648151 single base substitution G C upstream_gene_variant PRAD-CA 9 71678410 71678410 single base substitution G T intron_variant PRAD-CA 9 71681785 71681785 single base substitution A T intron_variant PRAD-CA 9 71696115 71696115 single base substitution A G intron_variant PRAD-CA 9 71715404 71715404 single base substitution A G downstream_gene_variant PRAD-UK 9 71661828 71661828 single base substitution C A intron_variant PRAD-UK 9 71661978 71661978 single base substitution G T intron_variant PRAD-UK 9 71667754 71667754 single base substitution G A intron_variant PRAD-UK 9 71671938 71671938 single base substitution G T intron_variant PRAD-UK 9 71677831 71677831 single base substitution G A intron_variant PRAD-UK 9 71706547 71706547 single base substitution A T intron_variant PRAD-UK 9 71712545 71712545 single base substitution C T intron_variant PRAD-UK 9 71716312 71716312 single base substitution G A downstream_gene_variant RECA-EU 9 71646258 71646258 single base substitution C A upstream_gene_variant RECA-EU 9 71652197 71652197 single base substitution A G intron_variant RECA-EU 9 71664214 71664214 single base substitution A G intron_variant RECA-EU 9 71668435 71668435 single base substitution A G intron_variant RECA-EU 9 71679646 71679646 single base substitution A C intron_variant RECA-EU 9 71686420 71686420 single base substitution T G intron_variant RECA-EU 9 71689586 71689586 single base substitution C T downstream_gene_variant RECA-EU 9 71689586 71689586 single base substitution C T intron_variant RECA-EU 9 71700466 71700466 single base substitution T G intron_variant RECA-EU 9 71704201 71704201 single base substitution C G intron_variant RECA-EU 9 71714636 71714636 single base substitution G A intron_variant RECA-EU 9 71715745 71715745 single base substitution A G downstream_gene_variant SKCA-BR 9 71649761 71649761 single base substitution C T upstream_gene_variant SKCA-BR 9 71649938 71649938 single base substitution T A upstream_gene_variant SKCA-BR 9 71651872 71651872 single base substitution T G intron_variant SKCA-BR 9 71651887 71651887 single base substitution A G intron_variant SKCA-BR 9 71656066 71656066 single base substitution C T intron_variant SKCA-BR 9 71657155 71657155 insertion of <=200bp - GA intron_variant SKCA-BR 9 71657155 71657155 insertion of <=200bp - GA upstream_gene_variant SKCA-BR 9 71665175 71665175 single base substitution G C intron_variant SKCA-BR 9 71666223 71666223 single base substitution C T intron_variant SKCA-BR 9 71666828 71666828 single base substitution A C intron_variant SKCA-BR 9 71667453 71667454 deletion of <=200bp AT - intron_variant SKCA-BR 9 71668955 71668955 single base substitution C A intron_variant SKCA-BR 9 71669157 71669157 single base substitution C T intron_variant SKCA-BR 9 71671708 71671708 single base substitution G A intron_variant SKCA-BR 9 71676224 71676224 single base substitution T C intron_variant SKCA-BR 9 71676586 71676586 single base substitution T C intron_variant SKCA-BR 9 71678445 71678445 single base substitution C T intron_variant SKCA-BR 9 71689415 71689415 single base substitution G A downstream_gene_variant SKCA-BR 9 71689415 71689415 single base substitution G A intron_variant SKCA-BR 9 71691147 71691147 insertion of <=200bp - TTTA downstream_gene_variant SKCA-BR 9 71691147 71691147 insertion of <=200bp - TTTA intron_variant SKCA-BR 9 71692121 71692121 single base substitution C T downstream_gene_variant SKCA-BR 9 71692121 71692121 single base substitution C T intron_variant SKCA-BR 9 71692670 71692670 single base substitution A C downstream_gene_variant SKCA-BR 9 71692670 71692670 single base substitution A C intron_variant SKCA-BR 9 71695511 71695511 single base substitution C T intron_variant SKCA-BR 9 71695872 71695872 single base substitution G A intron_variant SKCA-BR 9 71697213 71697213 single base substitution T C intron_variant SKCA-BR 9 71698715 71698715 insertion of <=200bp - CT intron_variant SKCA-BR 9 71701353 71701353 single base substitution C T intron_variant SKCA-BR 9 71703419 71703419 single base substitution C T intron_variant SKCA-BR 9 71703425 71703425 single base substitution C T intron_variant SKCA-BR 9 71703448 71703448 single base substitution G A intron_variant SKCA-BR 9 71703460 71703460 single base substitution G A intron_variant SKCA-BR 9 71707549 71707549 single base substitution C T intron_variant SKCA-BR 9 71710437 71710437 single base substitution C T intron_variant SKCA-BR 9 71710573 71710573 insertion of <=200bp - ATGATATTACAAAAATATTACAGTGTGTACACACACTG intron_variant SKCA-BR 9 71711605 71711605 insertion of <=200bp - AAATAATAATAAT intron_variant SKCA-BR 9 71712378 71712380 deletion of <=200bp CTT - intron_variant SKCA-BR 9 71712871 71712871 single base substitution T G intron_variant SKCA-BR 9 71715140 71715140 single base substitution C A downstream_gene_variant SKCA-BR 9 71715745 71715749 deletion of <=200bp AAAAG - downstream_gene_variant SKCA-BR 9 71716130 71716136 deletion of <=200bp TTTGTTG - downstream_gene_variant SKCA-BR 9 71719618 71719618 single base substitution T C downstream_gene_variant SKCM-US 9 71668065 71668065 single base substitution T C intron_variant SKCM-US 9 71668065 71668065 single base substitution T C synonymous_variant D16D 48T>C SKCM-US 9 71668065 71668065 single base substitution T C synonymous_variant D91D 273T>C THCA-SA 9 71687924 71687924 single base substitution C T 3_prime_UTR_variant THCA-SA 9 71687924 71687924 single base substitution C T downstream_gene_variant THCA-SA 9 71687924 71687924 single base substitution C T intron_variant THCA-SA 9 71688101 71688101 single base substitution A G 3_prime_UTR_variant THCA-SA 9 71688101 71688101 single base substitution A G downstream_gene_variant THCA-SA 9 71688101 71688101 single base substitution A G intron_variant THCA-SA 9 71688218 71688218 single base substitution T C 3_prime_UTR_variant THCA-SA 9 71688218 71688218 single base substitution T C downstream_gene_variant THCA-SA 9 71688218 71688218 single base substitution T C intron_variant THCA-SA 9 71688300 71688300 single base substitution A G 3_prime_UTR_variant THCA-SA 9 71688300 71688300 single base substitution A G downstream_gene_variant THCA-SA 9 71688300 71688300 single base substitution A G intron_variant THCA-SA 9 71688311 71688311 single base substitution C T 3_prime_UTR_variant THCA-SA 9 71688311 71688311 single base substitution C T downstream_gene_variant THCA-SA 9 71688311 71688311 single base substitution C T intron_variant THCA-SA 9 71691239 71691239 single base substitution G A downstream_gene_variant THCA-SA 9 71691239 71691239 single base substitution G A intron_variant THCA-SA 9 71691935 71691935 single base substitution A G downstream_gene_variant THCA-SA 9 71691935 71691935 single base substitution A G intron_variant THCA-SA 9 71692080 71692080 single base substitution C G downstream_gene_variant THCA-SA 9 71692080 71692080 single base substitution C G intron_variant THCA-SA 9 71692137 71692137 single base substitution T G downstream_gene_variant THCA-SA 9 71692137 71692137 single base substitution T G intron_variant THCA-SA 9 71692385 71692385 single base substitution A G downstream_gene_variant THCA-SA 9 71692385 71692385 single base substitution A G intron_variant THCA-SA 9 71692811 71692811 single base substitution A T downstream_gene_variant THCA-SA 9 71692811 71692811 single base substitution A T intron_variant THCA-SA 9 71692824 71692824 single base substitution T C downstream_gene_variant THCA-SA 9 71692824 71692824 single base substitution T C intron_variant THCA-SA 9 71692846 71692846 single base substitution A G downstream_gene_variant THCA-SA 9 71692846 71692846 single base substitution A G intron_variant THCA-SA 9 71692862 71692862 single base substitution G A downstream_gene_variant THCA-SA 9 71692862 71692862 single base substitution G A intron_variant THCA-SA 9 71692944 71692944 single base substitution A C downstream_gene_variant THCA-SA 9 71692944 71692944 single base substitution A C intron_variant THCA-SA 9 71693292 71693292 single base substitution G A downstream_gene_variant THCA-SA 9 71693292 71693292 single base substitution G A intron_variant THCA-SA 9 71693481 71693481 single base substitution C T downstream_gene_variant THCA-SA 9 71693481 71693481 single base substitution C T intron_variant THCA-SA 9 71693609 71693609 single base substitution G A downstream_gene_variant THCA-SA 9 71693609 71693609 single base substitution G A intron_variant THCA-SA 9 71693777 71693777 single base substitution C T downstream_gene_variant THCA-SA 9 71693777 71693777 single base substitution C T intron_variant UCEC-US 9 71668119 71668119 single base substitution T A intron_variant UCEC-US 9 71668119 71668119 single base substitution T A missense_variant F109L 327T>A UCEC-US 9 71668119 71668119 single base substitution T A missense_variant F34L 102T>A UCEC-US 9 71679951 71679951 single base substitution G T missense_variant R161M 482G>T UCEC-US 9 71679951 71679951 single base substitution G T missense_variant S161I 482G>T UCEC-US 9 71679951 71679951 single base substitution G T missense_variant S58I 173G>T UCEC-US 9 71679951 71679951 single base substitution G T missense_variant S86I 257G>T UCEC-US 9 71687531 71687531 single base substitution A G intron_variant UCEC-US 9 71687531 71687531 single base substitution A G missense_variant D165G 494A>G UCEC-US 9 71687531 71687531 single base substitution A G synonymous_variant G162G 486A>G UCEC-US 9 71687531 71687531 single base substitution A G synonymous_variant G59G 177A>G UCEC-US 9 71687531 71687531 single base substitution A G synonymous_variant G87G 261A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CRC-02T COSM5455790 c.511A>G p.K171E Substitution - Missense 9:69072640-69072640 + TCGA-D1-A17Q-01 COSM1109682 c.327T>A p.F109L Substitution - Missense 9:69053203-69053203 + 8047893 COSM3395831 c.288A>G p.E96E Substitution - coding silent 9:69053164-69053164 + sysucc-274T COSM5476883 c.256C>T p.H86Y Substitution - Missense 9:69046475-69046475 + ESCC_47 COSM5630817 c.519G>T p.W173C Substitution - Missense 9:69072648-69072648 + YUNACK COSM1701111 c.542C>T p.S181F Substitution - Missense 9:69072671-69072671 + TCGA-60-2720-01 COSM754352 c.625G>C p.D209H Substitution - Missense 9:69072754-69072754 + CSCC-41-T COSM4502133 c.605C>T p.S202F Substitution - Missense 9:69072734-69072734 + T3064 COSM4685908 c.559G>A p.A187T Substitution - Missense 9:69072688-69072688 + CSCC-7-T COSM4502133 c.605C>T p.S202F Substitution - Missense 9:69072734-69072734 + TCGA-DD-A3A9-01 COSM4920624 c.311A>G p.D104G Substitution - Missense 9:69053187-69053187 + TCGA-AY-6197-01 COSM1462746 c.320C>T p.A107V Substitution - Missense 9:69053196-69053196 + BD124T COSM5492505 c.178C>T p.R60C Substitution - Missense 9:69046397-69046397 + TCGA-B5-A11Y-01 COSM1109683 c.482G>T p.S161I Substitution - Missense 9:69065035-69065035 + TCGA-DA-A3F8-06 COSM3657811 c.273T>C p.D91D Substitution - coding silent 9:69053149-69053149 + PT44 COSM5926660 c.385-1G>A p.? Unknown 9:69064937-69064937 + NCHP_DIPG114 COSM4746115 c.548A>G p.H183R Substitution - Missense 9:69072677-69072677 + PD10059a COSM3719051 c.459A>G p.Q153Q Substitution - coding silent 9:69065012-69065012 + SC_9047 COSM5572820 c.220T>C p.Y74H Substitution - Missense 9:69046439-69046439 + TCGA-19-2629-01 COSM3413696 c.550G>T p.E184* Substitution - Nonsense 9:69072679-69072679 + 93VU147T COSM4590332 c.368A>C p.Y123S Substitution - Missense 9:69053244-69053244 + BZ38 COSM5759307 c.522G>A p.V174V Substitution - coding silent 9:69072651-69072651 + TCGA-B5-A0JY-01 COSM1109684 c.486A>G p.G162G Substitution - coding silent 9:69072615-69072615 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.20588;Hs.20685 9q21.11 606829

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Synonymous p.V68V c.204C>A 9 71661339 CM C T 3-UTRSNV . c.630+13C>T 9 71687688 CM C T Synonymous p.S202S c.606C>T 9 71687651 CM G A Missense p.V180M c.538G>A 9 71687583 LUAD G C Missense p.D209H c.625G>C 9 71687670 LUSC G T Missense p.G85C c.253G>T 9 71661388 LUAD G T Missense p.S161I c.482G>T 9 71679951 UCEC G T Nonsense p.E184* c.550G>T 9 71687595 GBM T A Missense p.V73D c.218T>A 9 71661353 LUAD T C Synonymous p.D91D c.273T>C 9 71668065 CM