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 ACC 9 138903545 138903545 + Silent SNP G G A TCGA-OR-A5L3-01A-11D-A29I-10 TCGA-OR-A5L3-10A-01D-A29L-10 g.chr9:138903545G>A c.1581C>T c.(1579-1581)gaC>gaT p.D527D BLCA 9 138903719 138903719 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr9:138903719G>A c.1407C>T c.(1405-1407)gtC>gtT p.V469V CESC 9 138903634 138903634 + Missense_Mutation SNP C C T TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 g.chr9:138903634C>T c.1492G>A c.(1492-1494)Gag>Aag p.E498K COAD 9 138903727 138903727 + Missense_Mutation SNP G G A TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr9:138903727G>A c.1399C>T c.(1399-1401)Cgc>Tgc p.R467C COAD 9 138903746 138903746 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr9:138903746C>T c.1380G>A c.(1378-1380)ccG>ccA p.P460P COAD 9 138905135 138905135 + Missense_Mutation SNP G G T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr9:138905135G>T c.1165C>A c.(1165-1167)Ctg>Atg p.L389M COAD 9 138908170 138908170 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr9:138908170C>T c.992G>A c.(991-993)cGc>cAc p.R331H COAD 9 138908221 138908221 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr9:138908221C>T c.941G>A c.(940-942)cGc>cAc p.R314H COADREAD 9 138903727 138903727 + Missense_Mutation SNP G G A TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr9:138903727G>A c.1399C>T c.(1399-1401)Cgc>Tgc p.R467C COADREAD 9 138903746 138903746 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr9:138903746C>T c.1380G>A c.(1378-1380)ccG>ccA p.P460P COADREAD 9 138905135 138905135 + Missense_Mutation SNP G G T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr9:138905135G>T c.1165C>A c.(1165-1167)Ctg>Atg p.L389M COADREAD 9 138908170 138908170 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr9:138908170C>T c.992G>A c.(991-993)cGc>cAc p.R331H COADREAD 9 138908221 138908221 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr9:138908221C>T c.941G>A c.(940-942)cGc>cAc p.R314H DLBC 9 138903497 138903497 + Silent SNP G G A TCGA-FA-A82F-01A-11D-A382-10 TCGA-FA-A82F-10A-01D-A385-10 g.chr9:138903497G>A c.1629C>T c.(1627-1629)gcC>gcT p.A543A DLBC 9 138903792 138903792 + Missense_Mutation SNP C C T TCGA-FA-A7Q1-01A-11D-A382-10 TCGA-FA-A7Q1-10A-01D-A385-10 g.chr9:138903792C>T c.1334G>A c.(1333-1335)cGc>cAc p.R445H GBM 9 138903727 138903727 + Missense_Mutation SNP G G A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 g.chr9:138903727G>A c.1399C>T c.(1399-1401)Cgc>Tgc p.R467C GBMLGG 9 138903727 138903727 + Missense_Mutation SNP G G A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 g.chr9:138903727G>A c.1399C>T c.(1399-1401)Cgc>Tgc p.R467C LIHC 9 138903604 138903604 + Missense_Mutation SNP C C A TCGA-DD-A73A-01A-12D-A32G-10 TCGA-DD-A73A-10A-01D-A32G-10 g.chr9:138903604C>A c.1522G>T c.(1522-1524)Gct>Tct p.A508S LIHC 9 138905769 138905769 + Silent SNP C C T TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr9:138905769C>T c.1098G>A c.(1096-1098)ctG>ctA p.L366L OV 9 138903816 138903816 + Missense_Mutation SNP G G T TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 g.chr9:138903816G>T c.1310C>A c.(1309-1311)gCc>gAc p.A437D PAAD 9 138905137 138905137 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr9:138905137G>A c.1163C>T c.(1162-1164)aCg>aTg p.T388M SARC 9 138903668 138903668 + Silent SNP G G A TCGA-DX-AB2X-01A-11D-A387-09 TCGA-DX-AB2X-10A-01D-A38A-09 g.chr9:138903668G>A c.1458C>T c.(1456-1458)gcC>gcT p.A486A SKCM 9 138903368 138903368 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr9:138903368G>A c.1758C>T c.(1756-1758)acC>acT p.T586T SKCM 9 138903681 138903681 + Frame_Shift_Del DEL T T - TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr9:138903681delT c.1445delA c.(1444-1446)gagfs p.E482fs SKCM 9 138905067 138905067 + Silent SNP G G A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr9:138905067G>A c.1233C>T c.(1231-1233)agC>agT p.S411S SKCM 9 138905089 138905089 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 g.chr9:138905089G>A c.1211C>T c.(1210-1212)cCc>cTc p.P404L SKCM 9 138905090 138905090 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 g.chr9:138905090G>A c.1210C>T c.(1210-1212)Ccc>Tcc p.P404S SKCM 9 138908222 138908222 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr9:138908222G>A c.940C>T c.(940-942)Cgc>Tgc p.R314C

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 9 138903719 138903719 single base substitution G A downstream_gene_variant BLCA-US 9 138903719 138903719 single base substitution G A synonymous_variant V469V 1407C>T BRCA-EU 9 138893536 138893536 single base substitution G T downstream_gene_variant BRCA-EU 9 138897300 138897300 single base substitution C T downstream_gene_variant BRCA-EU 9 138898003 138898003 single base substitution G A downstream_gene_variant BRCA-EU 9 138898631 138898631 single base substitution C T 3_prime_UTR_variant BRCA-EU 9 138898631 138898631 single base substitution C T downstream_gene_variant BRCA-EU 9 138900858 138900858 single base substitution G A 3_prime_UTR_variant BRCA-EU 9 138900858 138900858 single base substitution G A downstream_gene_variant BRCA-EU 9 138903151 138903151 single base substitution C G 3_prime_UTR_variant BRCA-EU 9 138903151 138903151 single base substitution C G downstream_gene_variant BRCA-EU 9 138904026 138904026 single base substitution C T downstream_gene_variant BRCA-EU 9 138904026 138904026 single base substitution C T intron_variant BRCA-EU 9 138904560 138904560 single base substitution G A downstream_gene_variant BRCA-EU 9 138904560 138904560 single base substitution G A intron_variant BRCA-EU 9 138904850 138904850 single base substitution C T downstream_gene_variant BRCA-EU 9 138904850 138904850 single base substitution C T intron_variant BRCA-EU 9 138905587 138905587 single base substitution G A downstream_gene_variant BRCA-EU 9 138905587 138905587 single base substitution G A intron_variant BRCA-EU 9 138906422 138906422 single base substitution C A downstream_gene_variant BRCA-EU 9 138906422 138906422 single base substitution C A intron_variant BRCA-EU 9 138906905 138906905 single base substitution G A downstream_gene_variant BRCA-EU 9 138906905 138906905 single base substitution G A intron_variant BRCA-EU 9 138907828 138907828 single base substitution A T downstream_gene_variant BRCA-EU 9 138907828 138907828 single base substitution A T intron_variant BRCA-EU 9 138908190 138908190 single base substitution G T exon_variant BRCA-EU 9 138908190 138908190 single base substitution G T synonymous_variant L324L 972C>A BRCA-EU 9 138908666 138908666 single base substitution C T intron_variant BRCA-EU 9 138909285 138909285 single base substitution G A intron_variant BRCA-EU 9 138911124 138911124 single base substitution C T exon_variant BRCA-EU 9 138911124 138911124 single base substitution C T intron_variant BRCA-EU 9 138911259 138911259 single base substitution C T exon_variant BRCA-EU 9 138911259 138911259 single base substitution C T intron_variant BRCA-EU 9 138912274 138912274 single base substitution G A intron_variant BRCA-EU 9 138912274 138912274 single base substitution G A upstream_gene_variant BRCA-EU 9 138912877 138912877 single base substitution G C intron_variant BRCA-EU 9 138912877 138912877 single base substitution G C upstream_gene_variant BRCA-EU 9 138914614 138914614 single base substitution C A intron_variant BRCA-EU 9 138914614 138914614 single base substitution C A upstream_gene_variant BRCA-EU 9 138916053 138916053 single base substitution A T intron_variant BRCA-EU 9 138916053 138916053 single base substitution A T upstream_gene_variant BRCA-EU 9 138916586 138916586 single base substitution A G intron_variant BRCA-EU 9 138916699 138916699 single base substitution G A intron_variant BRCA-EU 9 138917578 138917578 single base substitution G A intron_variant BRCA-EU 9 138919004 138919004 single base substitution G A intron_variant BRCA-EU 9 138921423 138921423 single base substitution C T intron_variant BRCA-EU 9 138924030 138924030 single base substitution C A intron_variant BRCA-EU 9 138925009 138925009 single base substitution G A intron_variant BRCA-EU 9 138925469 138925469 single base substitution C T intron_variant BRCA-EU 9 138927559 138927559 single base substitution A T intron_variant BRCA-EU 9 138927657 138927657 single base substitution G A intron_variant BRCA-EU 9 138927684 138927684 single base substitution C A intron_variant BRCA-EU 9 138929810 138929810 single base substitution C T intron_variant BRCA-EU 9 138942597 138942597 single base substitution C T intron_variant BRCA-EU 9 138942597 138942597 single base substitution C T upstream_gene_variant BRCA-EU 9 138947606 138947606 single base substitution G A intron_variant BRCA-EU 9 138947972 138947972 single base substitution A T intron_variant BRCA-EU 9 138948057 138948057 single base substitution C T intron_variant BRCA-EU 9 138948169 138948169 single base substitution C T intron_variant BRCA-EU 9 138948170 138948170 single base substitution G A intron_variant BRCA-EU 9 138948639 138948639 single base substitution C T intron_variant BRCA-EU 9 138949028 138949028 single base substitution G A intron_variant BRCA-EU 9 138949840 138949840 single base substitution C A intron_variant BRCA-EU 9 138950026 138950026 single base substitution C T intron_variant BRCA-EU 9 138951240 138951240 single base substitution C T intron_variant BRCA-EU 9 138951661 138951661 single base substitution C T intron_variant BRCA-EU 9 138951978 138951978 single base substitution A G intron_variant BRCA-EU 9 138952184 138952184 insertion of <=200bp - AGCCGGCTGGGCTGCCTTTA intron_variant BRCA-EU 9 138953880 138953880 single base substitution C T intron_variant BRCA-EU 9 138954477 138954477 single base substitution C A intron_variant BRCA-EU 9 138956041 138956041 single base substitution G T intron_variant BRCA-EU 9 138957895 138957895 single base substitution C T intron_variant BRCA-EU 9 138958690 138958690 single base substitution C T intron_variant BRCA-EU 9 138958908 138958908 single base substitution G A intron_variant BRCA-EU 9 138961330 138961330 single base substitution G C intron_variant BRCA-EU 9 138963957 138963957 single base substitution G A intron_variant BRCA-EU 9 138965576 138965576 single base substitution A C intron_variant BRCA-EU 9 138965852 138965852 single base substitution T A intron_variant BRCA-EU 9 138965924 138965924 single base substitution G A intron_variant BRCA-EU 9 138966275 138966275 single base substitution G C intron_variant BRCA-EU 9 138966781 138966781 single base substitution T A intron_variant BRCA-EU 9 138969052 138969052 single base substitution C A intron_variant BRCA-EU 9 138969181 138969181 single base substitution A G intron_variant BRCA-EU 9 138969433 138969433 single base substitution G A intron_variant BRCA-EU 9 138969697 138969697 single base substitution G A intron_variant BRCA-EU 9 138972434 138972434 deletion of <=200bp T - intron_variant BRCA-EU 9 138973460 138973460 single base substitution C T intron_variant BRCA-EU 9 138974043 138974043 single base substitution C G intron_variant BRCA-EU 9 138978479 138978479 single base substitution A C intron_variant BRCA-EU 9 138979607 138979607 single base substitution C G intron_variant BRCA-EU 9 138981498 138981498 single base substitution G T intron_variant BRCA-EU 9 138984930 138984930 single base substitution G C intron_variant BRCA-EU 9 138986550 138986550 single base substitution G A intron_variant BRCA-EU 9 138987228 138987229 deletion of <=200bp CG - upstream_gene_variant BRCA-EU 9 138988230 138988230 single base substitution C T upstream_gene_variant BRCA-FR 9 138895578 138895578 single base substitution G A downstream_gene_variant BRCA-FR 9 138898527 138898527 single base substitution G A 3_prime_UTR_variant BRCA-FR 9 138898527 138898527 single base substitution G A downstream_gene_variant BRCA-FR 9 138903151 138903151 single base substitution C G 3_prime_UTR_variant BRCA-FR 9 138903151 138903151 single base substitution C G downstream_gene_variant BRCA-FR 9 138906422 138906422 single base substitution C A downstream_gene_variant BRCA-FR 9 138906422 138906422 single base substitution C A intron_variant BRCA-FR 9 138909285 138909285 single base substitution G A intron_variant BRCA-FR 9 138921423 138921423 single base substitution C T intron_variant BRCA-FR 9 138927657 138927657 single base substitution G A intron_variant BRCA-FR 9 138927684 138927684 single base substitution C A intron_variant BRCA-FR 9 138928877 138928877 single base substitution G A intron_variant BRCA-FR 9 138948169 138948169 single base substitution C T intron_variant BRCA-FR 9 138948170 138948170 single base substitution G A intron_variant BRCA-FR 9 138949475 138949475 single base substitution C A intron_variant BRCA-FR 9 138951661 138951661 single base substitution C T intron_variant BRCA-FR 9 138974043 138974043 single base substitution C G intron_variant BRCA-FR 9 138986550 138986550 single base substitution G A intron_variant BRCA-FR 9 138988230 138988230 single base substitution C T upstream_gene_variant BRCA-FR 9 138991233 138991233 single base substitution G A upstream_gene_variant BRCA-KR 9 138903392 138903392 single base substitution C G downstream_gene_variant BRCA-KR 9 138903392 138903392 single base substitution C G missense_variant R578S 1734G>C BRCA-KR 9 138927427 138927427 single base substitution C T intron_variant BRCA-UK 9 138918409 138918409 single base substitution G A intron_variant BRCA-UK 9 138921705 138921705 single base substitution C G intron_variant BRCA-UK 9 138949840 138949840 single base substitution C A intron_variant BRCA-UK 9 138965852 138965852 single base substitution T A intron_variant BRCA-UK 9 138965924 138965924 single base substitution G A intron_variant BTCA-JP 9 138899309 138899309 single base substitution A G 3_prime_UTR_variant BTCA-JP 9 138899309 138899309 single base substitution A G downstream_gene_variant BTCA-JP 9 138903666 138903666 single base substitution G A downstream_gene_variant BTCA-JP 9 138903666 138903666 single base substitution G A missense_variant A487V 1460C>T CESC-US 9 138903634 138903634 single base substitution C T downstream_gene_variant CESC-US 9 138903634 138903634 single base substitution C T missense_variant E498K 1492G>A CLLE-ES 9 138900107 138900107 single base substitution C A 3_prime_UTR_variant CLLE-ES 9 138900107 138900107 single base substitution C A downstream_gene_variant CLLE-ES 9 138903010 138903010 single base substitution A G 3_prime_UTR_variant CLLE-ES 9 138903010 138903010 single base substitution A G downstream_gene_variant CLLE-ES 9 138912794 138912794 single base substitution A T intron_variant CLLE-ES 9 138912794 138912794 single base substitution A T upstream_gene_variant CLLE-ES 9 138916094 138916094 insertion of <=200bp - GT intron_variant CLLE-ES 9 138916094 138916094 insertion of <=200bp - GT upstream_gene_variant CLLE-ES 9 138959332 138959332 deletion of <=200bp T - intron_variant CLLE-ES 9 138962934 138962934 single base substitution C T intron_variant CLLE-ES 9 138963912 138963912 single base substitution C T intron_variant CLLE-ES 9 138966338 138966338 single base substitution C A intron_variant CLLE-ES 9 138966726 138966726 single base substitution G A intron_variant CLLE-ES 9 138967478 138967478 single base substitution C A intron_variant CLLE-ES 9 138983745 138983745 single base substitution G A intron_variant COAD-US 9 138903670 138903670 single base substitution C T downstream_gene_variant COAD-US 9 138903670 138903670 single base substitution C T missense_variant A486T 1456G>A COAD-US 9 138903671 138903671 single base substitution A G downstream_gene_variant COAD-US 9 138903671 138903671 single base substitution A G synonymous_variant P485P 1455T>C COAD-US 9 138903727 138903727 single base substitution G A downstream_gene_variant COAD-US 9 138903727 138903727 single base substitution G A missense_variant R467C 1399C>T COAD-US 9 138903746 138903746 single base substitution C T downstream_gene_variant COAD-US 9 138903746 138903746 single base substitution C T synonymous_variant P460P 1380G>A COAD-US 9 138905135 138905135 single base substitution G T downstream_gene_variant COAD-US 9 138905135 138905135 single base substitution G T missense_variant L389M 1165C>A COAD-US 9 138905136 138905136 single base substitution C T downstream_gene_variant COAD-US 9 138905136 138905136 single base substitution C T synonymous_variant T388T 1164G>A COAD-US 9 138908170 138908170 single base substitution C T exon_variant COAD-US 9 138908170 138908170 single base substitution C T missense_variant R331H 992G>A COAD-US 9 138908221 138908221 single base substitution C T exon_variant COAD-US 9 138908221 138908221 single base substitution C T missense_variant R314H 941G>A COAD-US 9 138908250 138908250 single base substitution C T exon_variant COAD-US 9 138908250 138908250 single base substitution C T synonymous_variant P304P 912G>A COCA-CN 9 138895213 138895213 single base substitution T C downstream_gene_variant COCA-CN 9 138899260 138899260 single base substitution G C 3_prime_UTR_variant COCA-CN 9 138899260 138899260 single base substitution G C downstream_gene_variant COCA-CN 9 138899265 138899265 single base substitution G A 3_prime_UTR_variant COCA-CN 9 138899265 138899265 single base substitution G A downstream_gene_variant COCA-CN 9 138899267 138899267 single base substitution G A 3_prime_UTR_variant COCA-CN 9 138899267 138899267 single base substitution G A downstream_gene_variant COCA-CN 9 138899291 138899291 single base substitution A G 3_prime_UTR_variant COCA-CN 9 138899291 138899291 single base substitution A G downstream_gene_variant COCA-CN 9 138899379 138899379 single base substitution G A 3_prime_UTR_variant COCA-CN 9 138899379 138899379 single base substitution G A downstream_gene_variant COCA-CN 9 138899380 138899380 single base substitution T C 3_prime_UTR_variant COCA-CN 9 138899380 138899380 single base substitution T C downstream_gene_variant COCA-CN 9 138899400 138899400 single base substitution C T 3_prime_UTR_variant COCA-CN 9 138899400 138899400 single base substitution C T downstream_gene_variant COCA-CN 9 138903485 138903485 single base substitution C T downstream_gene_variant COCA-CN 9 138903485 138903485 single base substitution C T synonymous_variant P547P 1641G>A COCA-CN 9 138903792 138903792 single base substitution C T downstream_gene_variant COCA-CN 9 138903792 138903792 single base substitution C T missense_variant R445H 1334G>A COCA-CN 9 138904520 138904520 single base substitution C T downstream_gene_variant COCA-CN 9 138904520 138904520 single base substitution C T intron_variant COCA-CN 9 138904997 138904997 single base substitution T C downstream_gene_variant COCA-CN 9 138904997 138904997 single base substitution T C intron_variant COCA-CN 9 138905702 138905702 single base substitution C T downstream_gene_variant COCA-CN 9 138905702 138905702 single base substitution C T splice_region_variant COCA-CN 9 138905896 138905896 single base substitution A G downstream_gene_variant COCA-CN 9 138905896 138905896 single base substitution A G intron_variant COCA-CN 9 138909693 138909693 single base substitution G A intron_variant COCA-CN 9 138916253 138916253 single base substitution A T intron_variant COCA-CN 9 138916253 138916253 single base substitution A T upstream_gene_variant COCA-CN 9 138927645 138927645 single base substitution T A intron_variant COCA-CN 9 138948356 138948356 single base substitution C A intron_variant COCA-CN 9 138962454 138962454 single base substitution T C intron_variant COCA-CN 9 138968442 138968442 single base substitution G A intron_variant COCA-CN 9 138968974 138968974 single base substitution G A intron_variant COCA-CN 9 138969033 138969033 single base substitution T C intron_variant COCA-CN 9 138977010 138977010 single base substitution G T intron_variant COCA-CN 9 138981433 138981433 single base substitution A G intron_variant COCA-CN 9 138985055 138985055 single base substitution G A intron_variant COCA-CN 9 138990187 138990187 single base substitution G C upstream_gene_variant EOPC-DE 9 138951517 138951517 single base substitution C A intron_variant EOPC-DE 9 138978881 138978881 single base substitution G A intron_variant ESAD-UK 9 138894363 138894363 single base substitution C T downstream_gene_variant ESAD-UK 9 138894373 138894373 single base substitution G C downstream_gene_variant ESAD-UK 9 138898383 138898383 single base substitution T G 3_prime_UTR_variant ESAD-UK 9 138898383 138898383 single base substitution T G downstream_gene_variant ESAD-UK 9 138898932 138898932 deletion of <=200bp T - 3_prime_UTR_variant ESAD-UK 9 138898932 138898932 deletion of <=200bp T - downstream_gene_variant ESAD-UK 9 138899210 138899210 single base substitution C T 3_prime_UTR_variant ESAD-UK 9 138899210 138899210 single base substitution C T downstream_gene_variant ESAD-UK 9 138900745 138900745 single base substitution T C 3_prime_UTR_variant ESAD-UK 9 138900745 138900745 single base substitution T C downstream_gene_variant ESAD-UK 9 138900757 138900757 single base substitution C T 3_prime_UTR_variant ESAD-UK 9 138900757 138900757 single base substitution C T downstream_gene_variant ESAD-UK 9 138902372 138902372 single base substitution C T 3_prime_UTR_variant ESAD-UK 9 138902372 138902372 single base substitution C T downstream_gene_variant ESAD-UK 9 138904964 138904964 single base substitution C T downstream_gene_variant ESAD-UK 9 138904964 138904964 single base substitution C T intron_variant ESAD-UK 9 138908321 138908321 single base substitution G A intron_variant ESAD-UK 9 138910560 138910560 single base substitution G A intron_variant ESAD-UK 9 138910775 138910775 single base substitution G A intron_variant ESAD-UK 9 138913245 138913245 single base substitution C T intron_variant ESAD-UK 9 138913245 138913245 single base substitution C T upstream_gene_variant ESAD-UK 9 138915807 138915807 single base substitution C A intron_variant ESAD-UK 9 138915807 138915807 single base substitution C A upstream_gene_variant ESAD-UK 9 138917727 138917727 single base substitution C G intron_variant ESAD-UK 9 138918868 138918868 single base substitution A T intron_variant ESAD-UK 9 138920614 138920614 single base substitution G C intron_variant ESAD-UK 9 138922232 138922232 single base substitution G A intron_variant ESAD-UK 9 138949707 138949707 single base substitution T A intron_variant ESAD-UK 9 138950104 138950104 single base substitution G A intron_variant ESAD-UK 9 138952187 138952187 single base substitution C T intron_variant ESAD-UK 9 138952938 138952938 single base substitution A C intron_variant ESAD-UK 9 138957363 138957363 single base substitution G A intron_variant ESAD-UK 9 138957693 138957693 single base substitution C T intron_variant ESAD-UK 9 138961741 138961741 single base substitution G A intron_variant ESAD-UK 9 138962913 138962913 insertion of <=200bp - A intron_variant ESAD-UK 9 138965031 138965031 single base substitution C T intron_variant ESAD-UK 9 138965436 138965436 single base substitution C G intron_variant ESAD-UK 9 138966726 138966726 single base substitution G A intron_variant ESAD-UK 9 138971338 138971338 insertion of <=200bp - GGTG intron_variant ESAD-UK 9 138971749 138971749 single base substitution C T intron_variant ESAD-UK 9 138973044 138973044 single base substitution G A intron_variant ESAD-UK 9 138974130 138974130 single base substitution C T intron_variant ESAD-UK 9 138975581 138975581 single base substitution G T intron_variant ESAD-UK 9 138979480 138979480 single base substitution C T intron_variant ESAD-UK 9 138979565 138979565 single base substitution G A intron_variant ESAD-UK 9 138979639 138979639 single base substitution G A intron_variant ESAD-UK 9 138980764 138980764 single base substitution G A intron_variant ESAD-UK 9 138980912 138980912 single base substitution G A intron_variant ESAD-UK 9 138980916 138980919 deletion of <=200bp TCTG - intron_variant ESAD-UK 9 138981071 138981071 single base substitution G A intron_variant ESAD-UK 9 138982780 138982780 single base substitution C T intron_variant ESAD-UK 9 138983489 138983489 single base substitution A G intron_variant ESAD-UK 9 138984806 138984806 single base substitution A C intron_variant ESAD-UK 9 138990912 138990912 single base substitution C T upstream_gene_variant ESCA-CN 9 138903475 138903475 single base substitution C T downstream_gene_variant ESCA-CN 9 138903475 138903475 single base substitution C T missense_variant D551N 1651G>A ESCA-CN 9 138903671 138903671 single base substitution A G downstream_gene_variant ESCA-CN 9 138903671 138903671 single base substitution A G synonymous_variant P485P 1455T>C ESCA-CN 9 138903814 138903814 single base substitution C T downstream_gene_variant ESCA-CN 9 138903814 138903814 single base substitution C T missense_variant A438T 1312G>A ESCA-CN 9 138905066 138905066 single base substitution G A downstream_gene_variant ESCA-CN 9 138905066 138905066 single base substitution G A missense_variant R412W 1234C>T GBM-US 9 138903727 138903727 single base substitution G A downstream_gene_variant GBM-US 9 138903727 138903727 single base substitution G A missense_variant R467C 1399C>T LAML-KR 9 138899189 138899189 single base substitution G A 3_prime_UTR_variant LAML-KR 9 138899189 138899189 single base substitution G A downstream_gene_variant LAML-KR 9 138935176 138935176 single base substitution C T intron_variant LAML-KR 9 138941020 138941020 single base substitution T C intron_variant LICA-CN 9 138903814 138903814 single base substitution C A downstream_gene_variant LICA-CN 9 138903814 138903814 single base substitution C A missense_variant A438S 1312G>T LICA-FR 9 138930440 138930440 single base substitution G T intron_variant LICA-FR 9 138939435 138939435 single base substitution C A intron_variant LICA-FR 9 138964016 138964016 single base substitution G A intron_variant LICA-FR 9 138967146 138967146 single base substitution G A intron_variant LIHC-US 9 138903604 138903604 single base substitution C A downstream_gene_variant LIHC-US 9 138903604 138903604 single base substitution C A missense_variant A508S 1522G>T LIHC-US 9 138905769 138905769 single base substitution C T downstream_gene_variant LIHC-US 9 138905769 138905769 single base substitution C T synonymous_variant L366L 1098G>A LINC-JP 9 138902505 138902505 deletion of <=200bp A - 3_prime_UTR_variant LINC-JP 9 138902505 138902505 deletion of <=200bp A - downstream_gene_variant LINC-JP 9 138903637 138903637 single base substitution C T downstream_gene_variant LINC-JP 9 138903637 138903637 single base substitution C T missense_variant A497T 1489G>A LINC-JP 9 138905907 138905907 single base substitution T G downstream_gene_variant LINC-JP 9 138905907 138905907 single base substitution T G intron_variant LINC-JP 9 138915801 138915801 deletion of <=200bp C - intron_variant LINC-JP 9 138915801 138915801 deletion of <=200bp C - upstream_gene_variant LINC-JP 9 138927589 138927589 single base substitution T C intron_variant LINC-JP 9 138949778 138949778 single base substitution C T intron_variant LINC-JP 9 138958475 138958475 single base substitution C T intron_variant LINC-JP 9 138981207 138981207 deletion of <=200bp C - intron_variant LIRI-JP 9 138894191 138894191 single base substitution C A downstream_gene_variant LIRI-JP 9 138894661 138894661 single base substitution G C downstream_gene_variant LIRI-JP 9 138895633 138895633 insertion of <=200bp - TG downstream_gene_variant LIRI-JP 9 138895846 138895846 single base substitution G A downstream_gene_variant LIRI-JP 9 138902200 138902200 single base substitution C A 3_prime_UTR_variant LIRI-JP 9 138902200 138902200 single base substitution C A downstream_gene_variant LIRI-JP 9 138902719 138902719 single base substitution C A 3_prime_UTR_variant LIRI-JP 9 138902719 138902719 single base substitution C A downstream_gene_variant LIRI-JP 9 138906733 138906733 single base substitution G A downstream_gene_variant LIRI-JP 9 138906733 138906733 single base substitution G A intron_variant LIRI-JP 9 138908443 138908443 single base substitution T C intron_variant LIRI-JP 9 138917720 138917720 single base substitution C A intron_variant LIRI-JP 9 138920993 138920993 single base substitution A C intron_variant LIRI-JP 9 138922263 138922263 single base substitution G C intron_variant LIRI-JP 9 138923589 138923589 single base substitution C A intron_variant LIRI-JP 9 138949488 138949488 single base substitution G A intron_variant LIRI-JP 9 138952689 138952689 single base substitution C T intron_variant LIRI-JP 9 138959943 138959943 single base substitution G T intron_variant LIRI-JP 9 138961554 138961554 single base substitution A G intron_variant LIRI-JP 9 138961770 138961770 single base substitution T C intron_variant LIRI-JP 9 138962431 138962431 single base substitution G A intron_variant LIRI-JP 9 138962786 138962786 single base substitution A C intron_variant LIRI-JP 9 138964818 138964818 single base substitution T C intron_variant LIRI-JP 9 138965083 138965083 single base substitution A G intron_variant LIRI-JP 9 138970125 138970125 single base substitution C A intron_variant LIRI-JP 9 138976341 138976341 single base substitution A G intron_variant LIRI-JP 9 138980896 138980896 single base substitution A G intron_variant LIRI-JP 9 138988147 138988147 single base substitution G A upstream_gene_variant LUSC-KR 9 138895566 138895566 single base substitution C T downstream_gene_variant LUSC-KR 9 138896232 138896232 single base substitution C G downstream_gene_variant LUSC-KR 9 138902351 138902351 single base substitution G A 3_prime_UTR_variant LUSC-KR 9 138902351 138902351 single base substitution G A downstream_gene_variant LUSC-KR 9 138904715 138904715 single base substitution C G downstream_gene_variant LUSC-KR 9 138904715 138904715 single base substitution C G intron_variant LUSC-KR 9 138912195 138912195 single base substitution C A intron_variant LUSC-KR 9 138912195 138912195 single base substitution C A upstream_gene_variant LUSC-KR 9 138915149 138915149 single base substitution G A intron_variant LUSC-KR 9 138915149 138915149 single base substitution G A upstream_gene_variant LUSC-KR 9 138916051 138916051 single base substitution A G intron_variant LUSC-KR 9 138916051 138916051 single base substitution A G upstream_gene_variant LUSC-KR 9 138922281 138922281 single base substitution C A intron_variant LUSC-KR 9 138925206 138925206 single base substitution C T intron_variant LUSC-KR 9 138949717 138949717 single base substitution G A intron_variant LUSC-KR 9 138953755 138953755 single base substitution C G intron_variant LUSC-KR 9 138959835 138959835 single base substitution G A intron_variant LUSC-KR 9 138961359 138961359 single base substitution C A intron_variant LUSC-KR 9 138963109 138963109 single base substitution G A intron_variant LUSC-KR 9 138965187 138965187 single base substitution G A intron_variant LUSC-KR 9 138975778 138975778 single base substitution G A intron_variant LUSC-KR 9 138978384 138978384 single base substitution C T intron_variant LUSC-KR 9 138979064 138979064 single base substitution C A intron_variant LUSC-KR 9 138979202 138979202 single base substitution C A intron_variant LUSC-KR 9 138985826 138985826 single base substitution G T intron_variant LUSC-KR 9 138989903 138989903 single base substitution T C upstream_gene_variant LUSC-KR 9 138990596 138990596 single base substitution G A upstream_gene_variant MALY-DE 9 138899049 138899049 single base substitution G C 3_prime_UTR_variant MALY-DE 9 138899049 138899049 single base substitution G C downstream_gene_variant MALY-DE 9 138899333 138899333 single base substitution G A 3_prime_UTR_variant MALY-DE 9 138899333 138899333 single base substitution G A downstream_gene_variant MALY-DE 9 138907644 138907644 single base substitution G A downstream_gene_variant MALY-DE 9 138907644 138907644 single base substitution G A intron_variant MALY-DE 9 138910605 138910605 single base substitution G A intron_variant MALY-DE 9 138911961 138911961 single base substitution C T intron_variant MALY-DE 9 138911961 138911961 single base substitution C T upstream_gene_variant MALY-DE 9 138912225 138912225 single base substitution T A intron_variant MALY-DE 9 138912225 138912225 single base substitution T A upstream_gene_variant MALY-DE 9 138912387 138912387 single base substitution G C intron_variant MALY-DE 9 138912387 138912387 single base substitution G C upstream_gene_variant MALY-DE 9 138915162 138915162 single base substitution G A intron_variant MALY-DE 9 138915162 138915162 single base substitution G A upstream_gene_variant MALY-DE 9 138921661 138921661 single base substitution G A intron_variant MALY-DE 9 138955443 138955443 single base substitution A T intron_variant MALY-DE 9 138962044 138962044 single base substitution A G intron_variant MALY-DE 9 138962452 138962452 single base substitution G C intron_variant MALY-DE 9 138968362 138968362 single base substitution C T intron_variant MALY-DE 9 138970800 138970800 single base substitution G A intron_variant MALY-DE 9 138971941 138971941 single base substitution C T intron_variant MALY-DE 9 138974679 138974679 single base substitution C T intron_variant MALY-DE 9 138979989 138979989 single base substitution G A intron_variant MALY-DE 9 138980260 138980260 single base substitution G A intron_variant MELA-AU 9 138893809 138893809 single base substitution G A downstream_gene_variant MELA-AU 9 138893982 138893982 single base substitution G A downstream_gene_variant MELA-AU 9 138894019 138894019 single base substitution A C downstream_gene_variant MELA-AU 9 138894304 138894305 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 9 138894348 138894349 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 9 138894569 138894569 single base substitution G A downstream_gene_variant MELA-AU 9 138895169 138895169 single base substitution G A downstream_gene_variant MELA-AU 9 138895248 138895248 single base substitution G A downstream_gene_variant MELA-AU 9 138895467 138895467 single base substitution C T downstream_gene_variant MELA-AU 9 138895912 138895912 single base substitution G A downstream_gene_variant MELA-AU 9 138896683 138896683 single base substitution C T downstream_gene_variant MELA-AU 9 138896929 138896929 single base substitution C T downstream_gene_variant MELA-AU 9 138897194 138897194 single base substitution G A downstream_gene_variant MELA-AU 9 138897269 138897269 single base substitution G A downstream_gene_variant MELA-AU 9 138897812 138897812 single base substitution G A downstream_gene_variant MELA-AU 9 138897961 138897961 single base substitution G A downstream_gene_variant MELA-AU 9 138898418 138898418 single base substitution G A 3_prime_UTR_variant MELA-AU 9 138898418 138898418 single base substitution G A downstream_gene_variant MELA-AU 9 138899121 138899121 single base substitution G A 3_prime_UTR_variant MELA-AU 9 138899121 138899121 single base substitution G A downstream_gene_variant MELA-AU 9 138899296 138899296 single base substitution C T 3_prime_UTR_variant MELA-AU 9 138899296 138899296 single base substitution C T downstream_gene_variant MELA-AU 9 138899888 138899888 single base substitution C T 3_prime_UTR_variant MELA-AU 9 138899888 138899888 single base substitution C T downstream_gene_variant MELA-AU 9 138899921 138899921 single base substitution C T 3_prime_UTR_variant MELA-AU 9 138899921 138899921 single base substitution C T downstream_gene_variant MELA-AU 9 138900083 138900083 single base substitution C T 3_prime_UTR_variant MELA-AU 9 138900083 138900083 single base substitution C T downstream_gene_variant MELA-AU 9 138900222 138900222 single base substitution G A 3_prime_UTR_variant MELA-AU 9 138900222 138900222 single base substitution G A downstream_gene_variant MELA-AU 9 138900435 138900435 single base substitution G A 3_prime_UTR_variant MELA-AU 9 138900435 138900435 single base substitution G A downstream_gene_variant MELA-AU 9 138900470 138900470 single base substitution G A 3_prime_UTR_variant MELA-AU 9 138900470 138900470 single base substitution G A downstream_gene_variant MELA-AU 9 138900923 138900923 single base substitution G A 3_prime_UTR_variant MELA-AU 9 138900923 138900923 single base substitution G A downstream_gene_variant MELA-AU 9 138900986 138900986 single base substitution G A 3_prime_UTR_variant MELA-AU 9 138900986 138900986 single base substitution G A downstream_gene_variant MELA-AU 9 138901522 138901522 single base substitution G A 3_prime_UTR_variant MELA-AU 9 138901522 138901522 single base substitution G A downstream_gene_variant MELA-AU 9 138901844 138901844 single base substitution G A 3_prime_UTR_variant MELA-AU 9 138901844 138901844 single base substitution G A downstream_gene_variant MELA-AU 9 138902417 138902417 single base substitution G A 3_prime_UTR_variant MELA-AU 9 138902417 138902417 single base substitution G A downstream_gene_variant MELA-AU 9 138902679 138902679 single base substitution G A 3_prime_UTR_variant MELA-AU 9 138902679 138902679 single base substitution G A downstream_gene_variant MELA-AU 9 138903209 138903209 single base substitution C A 3_prime_UTR_variant MELA-AU 9 138903209 138903209 single base substitution C A downstream_gene_variant MELA-AU 9 138903689 138903689 single base substitution G A downstream_gene_variant MELA-AU 9 138903689 138903689 single base substitution G A synonymous_variant L479L 1437C>T MELA-AU 9 138904114 138904114 single base substitution C T downstream_gene_variant MELA-AU 9 138904114 138904114 single base substitution C T intron_variant MELA-AU 9 138904125 138904125 single base substitution G A downstream_gene_variant MELA-AU 9 138904125 138904125 single base substitution G A intron_variant MELA-AU 9 138904650 138904651 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 9 138904650 138904651 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 138904762 138904762 single base substitution G A downstream_gene_variant MELA-AU 9 138904762 138904762 single base substitution G A intron_variant MELA-AU 9 138904835 138904835 single base substitution G A downstream_gene_variant MELA-AU 9 138904835 138904835 single base substitution G A intron_variant MELA-AU 9 138904878 138904878 single base substitution G A downstream_gene_variant MELA-AU 9 138904878 138904878 single base substitution G A intron_variant MELA-AU 9 138904991 138904992 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 9 138904991 138904992 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 138905315 138905315 single base substitution G A downstream_gene_variant MELA-AU 9 138905315 138905315 single base substitution G A intron_variant MELA-AU 9 138905353 138905353 single base substitution G A downstream_gene_variant MELA-AU 9 138905353 138905353 single base substitution G A intron_variant MELA-AU 9 138906439 138906439 single base substitution G A downstream_gene_variant MELA-AU 9 138906439 138906439 single base substitution G A intron_variant MELA-AU 9 138906958 138906958 single base substitution G A downstream_gene_variant MELA-AU 9 138906958 138906958 single base substitution G A intron_variant MELA-AU 9 138907296 138907296 single base substitution G A downstream_gene_variant MELA-AU 9 138907296 138907296 single base substitution G A intron_variant MELA-AU 9 138907387 138907387 single base substitution G A downstream_gene_variant MELA-AU 9 138907387 138907387 single base substitution G A intron_variant MELA-AU 9 138907978 138907978 single base substitution G A downstream_gene_variant MELA-AU 9 138907978 138907978 single base substitution G A intron_variant MELA-AU 9 138907988 138907988 single base substitution G A downstream_gene_variant MELA-AU 9 138907988 138907988 single base substitution G A intron_variant MELA-AU 9 138908211 138908211 single base substitution G A exon_variant MELA-AU 9 138908211 138908211 single base substitution G A synonymous_variant L317L 951C>T MELA-AU 9 138908697 138908697 single base substitution G A intron_variant MELA-AU 9 138909701 138909701 single base substitution G A intron_variant MELA-AU 9 138910112 138910113 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 138910492 138910492 single base substitution G A intron_variant MELA-AU 9 138911028 138911028 single base substitution G A exon_variant MELA-AU 9 138911028 138911028 single base substitution G A intron_variant MELA-AU 9 138911211 138911211 single base substitution G A exon_variant MELA-AU 9 138911211 138911211 single base substitution G A intron_variant MELA-AU 9 138911816 138911816 single base substitution G A intron_variant MELA-AU 9 138911816 138911816 single base substitution G A upstream_gene_variant MELA-AU 9 138912181 138912181 single base substitution G A intron_variant MELA-AU 9 138912181 138912181 single base substitution G A upstream_gene_variant MELA-AU 9 138912390 138912391 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 138912390 138912391 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 9 138912690 138912690 single base substitution G A intron_variant MELA-AU 9 138912690 138912690 single base substitution G A upstream_gene_variant MELA-AU 9 138912975 138912975 single base substitution A G intron_variant MELA-AU 9 138912975 138912975 single base substitution A G upstream_gene_variant MELA-AU 9 138913497 138913497 single base substitution G A intron_variant MELA-AU 9 138913497 138913497 single base substitution G A upstream_gene_variant MELA-AU 9 138914318 138914318 single base substitution T C intron_variant MELA-AU 9 138914318 138914318 single base substitution T C upstream_gene_variant MELA-AU 9 138914401 138914401 single base substitution G A intron_variant MELA-AU 9 138914401 138914401 single base substitution G A upstream_gene_variant MELA-AU 9 138914830 138914830 single base substitution G A intron_variant MELA-AU 9 138914830 138914830 single base substitution G A upstream_gene_variant MELA-AU 9 138915210 138915210 single base substitution G A intron_variant MELA-AU 9 138915210 138915210 single base substitution G A upstream_gene_variant MELA-AU 9 138915964 138915964 single base substitution G A intron_variant MELA-AU 9 138915964 138915964 single base substitution G A upstream_gene_variant MELA-AU 9 138916117 138916117 single base substitution G T intron_variant MELA-AU 9 138916117 138916117 single base substitution G T upstream_gene_variant MELA-AU 9 138916281 138916281 single base substitution G A intron_variant MELA-AU 9 138916281 138916281 single base substitution G A upstream_gene_variant MELA-AU 9 138916316 138916316 single base substitution G A intron_variant MELA-AU 9 138916316 138916316 single base substitution G A upstream_gene_variant MELA-AU 9 138917066 138917067 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 138917191 138917191 single base substitution A G intron_variant MELA-AU 9 138917277 138917277 single base substitution G A intron_variant MELA-AU 9 138917350 138917350 single base substitution A C intron_variant MELA-AU 9 138917552 138917552 single base substitution G A intron_variant MELA-AU 9 138917577 138917577 single base substitution G A intron_variant MELA-AU 9 138918267 138918267 single base substitution G A intron_variant MELA-AU 9 138918485 138918485 single base substitution G A intron_variant MELA-AU 9 138919131 138919131 single base substitution C T intron_variant MELA-AU 9 138919241 138919241 single base substitution G A intron_variant MELA-AU 9 138919479 138919479 single base substitution A G intron_variant MELA-AU 9 138919647 138919647 single base substitution G A intron_variant MELA-AU 9 138920613 138920613 single base substitution G A intron_variant MELA-AU 9 138920738 138920738 single base substitution G A intron_variant MELA-AU 9 138920870 138920870 single base substitution G A intron_variant MELA-AU 9 138920940 138920940 single base substitution G A intron_variant MELA-AU 9 138921207 138921207 single base substitution C T intron_variant MELA-AU 9 138921773 138921773 single base substitution G A intron_variant MELA-AU 9 138923283 138923283 single base substitution G A intron_variant MELA-AU 9 138923285 138923285 single base substitution G A intron_variant MELA-AU 9 138924015 138924015 single base substitution G A intron_variant MELA-AU 9 138924228 138924228 single base substitution G A intron_variant MELA-AU 9 138925005 138925005 single base substitution G A intron_variant MELA-AU 9 138927414 138927414 single base substitution G A intron_variant MELA-AU 9 138930012 138930012 single base substitution G A intron_variant MELA-AU 9 138930015 138930015 single base substitution G A intron_variant MELA-AU 9 138935468 138935468 single base substitution G A intron_variant MELA-AU 9 138940562 138940562 single base substitution G A intron_variant MELA-AU 9 138942586 138942586 single base substitution G A intron_variant MELA-AU 9 138942586 138942586 single base substitution G A upstream_gene_variant MELA-AU 9 138947376 138947376 single base substitution C T intron_variant MELA-AU 9 138947376 138947376 single base substitution C T upstream_gene_variant MELA-AU 9 138947436 138947436 single base substitution A T intron_variant MELA-AU 9 138947475 138947476 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 138947482 138947482 single base substitution G A intron_variant MELA-AU 9 138947605 138947605 single base substitution C T intron_variant MELA-AU 9 138947670 138947670 single base substitution G A intron_variant MELA-AU 9 138948458 138948458 single base substitution G A intron_variant MELA-AU 9 138948473 138948473 single base substitution G A intron_variant MELA-AU 9 138948806 138948806 single base substitution G A intron_variant MELA-AU 9 138948916 138948916 single base substitution G A intron_variant MELA-AU 9 138949140 138949140 single base substitution G A intron_variant MELA-AU 9 138949233 138949233 single base substitution G A intron_variant MELA-AU 9 138949577 138949577 single base substitution G A intron_variant MELA-AU 9 138949678 138949678 single base substitution G A intron_variant MELA-AU 9 138949710 138949710 single base substitution G A intron_variant MELA-AU 9 138950066 138950066 single base substitution G A intron_variant MELA-AU 9 138950243 138950243 single base substitution G A intron_variant MELA-AU 9 138950250 138950250 single base substitution G A intron_variant MELA-AU 9 138950276 138950276 single base substitution G A intron_variant MELA-AU 9 138951020 138951020 single base substitution A G intron_variant MELA-AU 9 138951221 138951221 single base substitution C T intron_variant MELA-AU 9 138951488 138951488 single base substitution G A intron_variant MELA-AU 9 138951887 138951887 single base substitution G A intron_variant MELA-AU 9 138952331 138952332 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 138952348 138952348 single base substitution A G intron_variant MELA-AU 9 138952483 138952483 single base substitution C T intron_variant MELA-AU 9 138952653 138952653 single base substitution C T intron_variant MELA-AU 9 138952908 138952908 single base substitution G A intron_variant MELA-AU 9 138953045 138953045 single base substitution G A intron_variant MELA-AU 9 138953388 138953388 single base substitution G A intron_variant MELA-AU 9 138953431 138953431 single base substitution G A intron_variant MELA-AU 9 138953874 138953875 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 9 138954032 138954032 single base substitution G A intron_variant MELA-AU 9 138954147 138954147 single base substitution A G intron_variant MELA-AU 9 138954148 138954148 single base substitution G A intron_variant MELA-AU 9 138954739 138954739 single base substitution G A intron_variant MELA-AU 9 138954866 138954866 single base substitution G A intron_variant MELA-AU 9 138954967 138954967 single base substitution G A intron_variant MELA-AU 9 138956568 138956568 single base substitution A G intron_variant MELA-AU 9 138956592 138956592 single base substitution G A intron_variant MELA-AU 9 138956840 138956840 single base substitution G A intron_variant MELA-AU 9 138958271 138958271 single base substitution G A intron_variant MELA-AU 9 138958409 138958409 single base substitution T A intron_variant MELA-AU 9 138958596 138958596 single base substitution G A intron_variant MELA-AU 9 138958869 138958869 single base substitution G A intron_variant MELA-AU 9 138959174 138959174 single base substitution G A intron_variant MELA-AU 9 138959479 138959479 single base substitution C T intron_variant MELA-AU 9 138959866 138959866 single base substitution G A intron_variant MELA-AU 9 138960602 138960602 single base substitution G A intron_variant MELA-AU 9 138961221 138961221 single base substitution C A intron_variant MELA-AU 9 138961249 138961249 single base substitution G T intron_variant MELA-AU 9 138962717 138962717 single base substitution G A intron_variant MELA-AU 9 138963235 138963235 single base substitution G A intron_variant MELA-AU 9 138963578 138963578 single base substitution G A intron_variant MELA-AU 9 138963859 138963860 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 138964230 138964230 single base substitution G A intron_variant MELA-AU 9 138964392 138964392 single base substitution A T intron_variant MELA-AU 9 138964402 138964402 single base substitution G A intron_variant MELA-AU 9 138964604 138964604 single base substitution G A intron_variant MELA-AU 9 138964631 138964631 single base substitution G A intron_variant MELA-AU 9 138964757 138964757 single base substitution G A intron_variant MELA-AU 9 138964804 138964804 single base substitution G A intron_variant MELA-AU 9 138965466 138965466 single base substitution C T intron_variant MELA-AU 9 138965758 138965758 single base substitution G A intron_variant MELA-AU 9 138965990 138965990 single base substitution A T intron_variant MELA-AU 9 138966602 138966602 single base substitution C A intron_variant MELA-AU 9 138966850 138966850 single base substitution G A intron_variant MELA-AU 9 138967325 138967325 single base substitution G A intron_variant MELA-AU 9 138967495 138967495 single base substitution G A intron_variant MELA-AU 9 138967883 138967883 single base substitution G A intron_variant MELA-AU 9 138968037 138968037 single base substitution G A intron_variant MELA-AU 9 138968363 138968363 single base substitution G A intron_variant MELA-AU 9 138968383 138968383 single base substitution G A intron_variant MELA-AU 9 138968396 138968396 single base substitution G A intron_variant MELA-AU 9 138968544 138968544 single base substitution A C intron_variant MELA-AU 9 138968630 138968630 single base substitution G A intron_variant MELA-AU 9 138968645 138968645 single base substitution G A intron_variant MELA-AU 9 138968839 138968839 single base substitution G A intron_variant MELA-AU 9 138968958 138968958 single base substitution G A intron_variant MELA-AU 9 138969590 138969590 single base substitution G A intron_variant MELA-AU 9 138969856 138969856 single base substitution G A intron_variant MELA-AU 9 138970402 138970402 single base substitution G A intron_variant MELA-AU 9 138970715 138970715 single base substitution G A intron_variant MELA-AU 9 138970852 138970852 single base substitution C G intron_variant MELA-AU 9 138970873 138970873 single base substitution T C intron_variant MELA-AU 9 138971178 138971178 single base substitution G A intron_variant MELA-AU 9 138972098 138972098 single base substitution G A intron_variant MELA-AU 9 138972325 138972325 single base substitution G A intron_variant MELA-AU 9 138972567 138972567 single base substitution G A intron_variant MELA-AU 9 138972869 138972869 single base substitution G A intron_variant MELA-AU 9 138972982 138972982 single base substitution G A intron_variant MELA-AU 9 138972985 138972985 single base substitution G A intron_variant MELA-AU 9 138973579 138973579 single base substitution G A intron_variant MELA-AU 9 138973721 138973721 single base substitution G A intron_variant MELA-AU 9 138973908 138973908 single base substitution G A intron_variant MELA-AU 9 138973949 138973949 single base substitution G A intron_variant MELA-AU 9 138974015 138974015 single base substitution G A intron_variant MELA-AU 9 138974259 138974259 single base substitution G A intron_variant MELA-AU 9 138974288 138974288 single base substitution G A intron_variant MELA-AU 9 138975166 138975166 single base substitution G A intron_variant MELA-AU 9 138977444 138977444 single base substitution G A intron_variant MELA-AU 9 138978118 138978118 single base substitution G A intron_variant MELA-AU 9 138978122 138978122 single base substitution G A intron_variant MELA-AU 9 138978219 138978219 single base substitution G T intron_variant MELA-AU 9 138978249 138978249 single base substitution G T intron_variant MELA-AU 9 138978565 138978565 single base substitution G A intron_variant MELA-AU 9 138978567 138978567 single base substitution C T intron_variant MELA-AU 9 138978896 138978896 single base substitution G A intron_variant MELA-AU 9 138979323 138979324 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 138979503 138979503 single base substitution G A intron_variant MELA-AU 9 138979807 138979807 single base substitution G A intron_variant MELA-AU 9 138979840 138979840 single base substitution G A intron_variant MELA-AU 9 138980021 138980021 single base substitution C T intron_variant MELA-AU 9 138981125 138981125 single base substitution A G intron_variant MELA-AU 9 138981184 138981185 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 138981274 138981274 single base substitution T A intron_variant MELA-AU 9 138981790 138981790 deletion of <=200bp T - intron_variant MELA-AU 9 138981989 138981989 single base substitution A G intron_variant MELA-AU 9 138982370 138982370 single base substitution G A intron_variant MELA-AU 9 138983154 138983156 deletion of <=200bp AGG - intron_variant MELA-AU 9 138983167 138983167 single base substitution G A intron_variant MELA-AU 9 138983218 138983218 single base substitution C A intron_variant MELA-AU 9 138983290 138983290 single base substitution G A intron_variant MELA-AU 9 138983349 138983349 single base substitution G T intron_variant MELA-AU 9 138983357 138983357 single base substitution C A intron_variant MELA-AU 9 138983993 138983993 single base substitution C G intron_variant MELA-AU 9 138986358 138986358 single base substitution A G intron_variant MELA-AU 9 138988429 138988429 single base substitution C T upstream_gene_variant MELA-AU 9 138988680 138988680 single base substitution C T upstream_gene_variant MELA-AU 9 138988761 138988761 single base substitution C T upstream_gene_variant MELA-AU 9 138989253 138989253 single base substitution C T upstream_gene_variant MELA-AU 9 138989363 138989363 single base substitution G A upstream_gene_variant MELA-AU 9 138990681 138990681 single base substitution G A upstream_gene_variant MELA-AU 9 138990781 138990781 single base substitution G A upstream_gene_variant MELA-AU 9 138991328 138991328 single base substitution G A upstream_gene_variant MELA-AU 9 138991342 138991342 single base substitution C T upstream_gene_variant MELA-AU 9 138991913 138991913 single base substitution G A upstream_gene_variant ORCA-IN 9 138899382 138899382 single base substitution C A 3_prime_UTR_variant ORCA-IN 9 138899382 138899382 single base substitution C A downstream_gene_variant ORCA-IN 9 138899397 138899397 single base substitution A G 3_prime_UTR_variant ORCA-IN 9 138899397 138899397 single base substitution A G downstream_gene_variant ORCA-IN 9 138903734 138903734 single base substitution C A downstream_gene_variant ORCA-IN 9 138903734 138903734 single base substitution C A missense_variant E464D 1392G>T ORCA-IN 9 138991233 138991233 single base substitution G C upstream_gene_variant ORCA-IN 9 138991243 138991243 single base substitution G C upstream_gene_variant OV-AU 9 138896504 138896504 single base substitution C T downstream_gene_variant OV-AU 9 138896681 138896681 single base substitution T A downstream_gene_variant OV-AU 9 138899382 138899382 single base substitution C A 3_prime_UTR_variant OV-AU 9 138899382 138899382 single base substitution C A downstream_gene_variant OV-AU 9 138903838 138903838 single base substitution C A downstream_gene_variant OV-AU 9 138903838 138903838 single base substitution C A stop_gained E430* 1288G>T OV-AU 9 138904188 138904188 single base substitution G A downstream_gene_variant OV-AU 9 138904188 138904188 single base substitution G A intron_variant OV-AU 9 138904209 138904209 single base substitution C A downstream_gene_variant OV-AU 9 138904209 138904209 single base substitution C A intron_variant OV-AU 9 138922413 138922413 single base substitution G A intron_variant OV-AU 9 138923236 138923236 single base substitution T G intron_variant OV-AU 9 138923342 138923342 single base substitution C A intron_variant OV-AU 9 138937257 138937257 single base substitution G A intron_variant OV-AU 9 138950012 138950012 single base substitution G T intron_variant OV-AU 9 138952574 138952574 single base substitution G A intron_variant OV-AU 9 138959044 138959044 single base substitution G C intron_variant OV-AU 9 138981758 138981758 single base substitution T G intron_variant OV-AU 9 138983285 138983285 single base substitution C T intron_variant OV-AU 9 138988851 138988851 single base substitution G T upstream_gene_variant PACA-AU 9 138893478 138893478 single base substitution T A downstream_gene_variant PACA-AU 9 138895947 138895948 deletion of <=200bp TC - downstream_gene_variant PACA-AU 9 138899298 138899298 single base substitution C T 3_prime_UTR_variant PACA-AU 9 138899298 138899298 single base substitution C T downstream_gene_variant PACA-AU 9 138908798 138908798 deletion of <=200bp A - intron_variant PACA-AU 9 138909242 138909242 single base substitution C T intron_variant PACA-AU 9 138911247 138911247 single base substitution G T exon_variant PACA-AU 9 138911247 138911247 single base substitution G T intron_variant PACA-AU 9 138915809 138915809 single base substitution A C intron_variant PACA-AU 9 138915809 138915809 single base substitution A C upstream_gene_variant PACA-AU 9 138916421 138916421 single base substitution T C intron_variant PACA-AU 9 138917177 138917177 single base substitution C T intron_variant PACA-AU 9 138923287 138923287 single base substitution A C intron_variant PACA-AU 9 138942917 138942917 single base substitution G C intron_variant PACA-AU 9 138942917 138942917 single base substitution G C upstream_gene_variant PACA-AU 9 138949952 138949952 single base substitution G A intron_variant PACA-AU 9 138955704 138955704 single base substitution T C intron_variant PACA-AU 9 138958578 138958578 single base substitution A T intron_variant PACA-AU 9 138967056 138967056 single base substitution C T intron_variant PACA-AU 9 138967174 138967174 single base substitution G T intron_variant PACA-AU 9 138967331 138967331 single base substitution G A intron_variant PACA-AU 9 138970178 138970178 single base substitution G A intron_variant PACA-AU 9 138970386 138970386 single base substitution C T intron_variant PACA-AU 9 138979340 138979340 single base substitution C T intron_variant PACA-AU 9 138985055 138985055 single base substitution G A intron_variant PACA-AU 9 138989165 138989165 single base substitution C T upstream_gene_variant PACA-AU 9 138992123 138992123 single base substitution G A upstream_gene_variant PACA-CA 9 138896392 138896392 single base substitution G A downstream_gene_variant PACA-CA 9 138899277 138899280 deletion of <=200bp ACAC - 3_prime_UTR_variant PACA-CA 9 138899277 138899280 deletion of <=200bp ACAC - downstream_gene_variant PACA-CA 9 138899361 138899368 deletion of <=200bp ACACACAG - 3_prime_UTR_variant PACA-CA 9 138899361 138899368 deletion of <=200bp ACACACAG - downstream_gene_variant PACA-CA 9 138901108 138901108 single base substitution C T 3_prime_UTR_variant PACA-CA 9 138901108 138901108 single base substitution C T downstream_gene_variant PACA-CA 9 138902707 138902707 single base substitution G C 3_prime_UTR_variant PACA-CA 9 138902707 138902707 single base substitution G C downstream_gene_variant PACA-CA 9 138903539 138903539 single base substitution G A downstream_gene_variant PACA-CA 9 138903539 138903539 single base substitution G A synonymous_variant G529G 1587C>T PACA-CA 9 138906283 138906283 single base substitution C T downstream_gene_variant PACA-CA 9 138906283 138906283 single base substitution C T intron_variant PACA-CA 9 138906742 138906742 single base substitution C T downstream_gene_variant PACA-CA 9 138906742 138906742 single base substitution C T intron_variant PACA-CA 9 138907889 138907889 single base substitution T A downstream_gene_variant PACA-CA 9 138907889 138907889 single base substitution T A intron_variant PACA-CA 9 138921918 138921918 single base substitution A G intron_variant PACA-CA 9 138951581 138951581 single base substitution G T intron_variant PACA-CA 9 138962610 138962610 single base substitution G C intron_variant PACA-CA 9 138962912 138962912 insertion of <=200bp - A intron_variant PACA-CA 9 138963198 138963198 single base substitution G A intron_variant PACA-CA 9 138963825 138963825 single base substitution C T intron_variant PACA-CA 9 138966700 138966700 single base substitution C T intron_variant PACA-CA 9 138966963 138966963 single base substitution C T intron_variant PACA-CA 9 138976799 138976799 single base substitution G A intron_variant PACA-CA 9 138985165 138985165 single base substitution A C intron_variant PACA-CA 9 138986633 138986633 single base substitution C A intron_variant PAEN-AU 9 138916300 138916300 single base substitution A G intron_variant PAEN-AU 9 138916300 138916300 single base substitution A G upstream_gene_variant PAEN-AU 9 138985821 138985821 single base substitution T G intron_variant PAEN-AU 9 138987280 138987280 single base substitution G T upstream_gene_variant PAEN-IT 9 138912891 138912891 single base substitution C A intron_variant PAEN-IT 9 138912891 138912891 single base substitution C A upstream_gene_variant PAEN-IT 9 138913946 138913946 single base substitution C T intron_variant PAEN-IT 9 138913946 138913946 single base substitution C T upstream_gene_variant PAEN-IT 9 138928788 138928788 single base substitution C A intron_variant PAEN-IT 9 138957340 138957340 single base substitution C G intron_variant PAEN-IT 9 138964550 138964550 single base substitution T A intron_variant PBCA-DE 9 138895334 138895334 single base substitution G T downstream_gene_variant PBCA-DE 9 138898527 138898527 single base substitution G A 3_prime_UTR_variant PBCA-DE 9 138898527 138898527 single base substitution G A downstream_gene_variant PBCA-DE 9 138899358 138899358 single base substitution C T 3_prime_UTR_variant PBCA-DE 9 138899358 138899358 single base substitution C T downstream_gene_variant PBCA-DE 9 138901664 138901664 single base substitution G A 3_prime_UTR_variant PBCA-DE 9 138901664 138901664 single base substitution G A downstream_gene_variant PBCA-DE 9 138903089 138903089 single base substitution G T 3_prime_UTR_variant PBCA-DE 9 138903089 138903089 single base substitution G T downstream_gene_variant PBCA-DE 9 138905262 138905262 single base substitution G A downstream_gene_variant PBCA-DE 9 138905262 138905262 single base substitution G A intron_variant PBCA-DE 9 138914302 138914302 single base substitution C T intron_variant PBCA-DE 9 138914302 138914302 single base substitution C T upstream_gene_variant PBCA-DE 9 138914460 138914460 single base substitution G T intron_variant PBCA-DE 9 138914460 138914460 single base substitution G T upstream_gene_variant PBCA-DE 9 138916096 138916096 insertion of <=200bp - GTGC intron_variant PBCA-DE 9 138916096 138916096 insertion of <=200bp - GTGC upstream_gene_variant PBCA-DE 9 138916950 138916950 single base substitution C T intron_variant PBCA-DE 9 138919080 138919080 insertion of <=200bp - A intron_variant PBCA-DE 9 138934620 138934623 deletion of <=200bp ACAG - intron_variant PBCA-DE 9 138934624 138934625 deletion of <=200bp AC - intron_variant PBCA-DE 9 138934712 138934719 deletion of <=200bp AGACAAAC - intron_variant PBCA-DE 9 138949952 138949952 deletion of <=200bp G - intron_variant PBCA-DE 9 138953066 138953066 single base substitution G A intron_variant PBCA-DE 9 138954418 138954418 deletion of <=200bp A - intron_variant PBCA-DE 9 138959015 138959015 single base substitution G A intron_variant PBCA-DE 9 138960314 138960314 single base substitution C T intron_variant PBCA-DE 9 138963707 138963707 single base substitution G T intron_variant PBCA-DE 9 138964091 138964091 deletion of <=200bp A - intron_variant PBCA-DE 9 138968717 138968717 single base substitution G A intron_variant PBCA-DE 9 138968871 138968871 single base substitution A G intron_variant PBCA-DE 9 138973742 138973742 single base substitution G A intron_variant PBCA-DE 9 138982454 138982454 single base substitution C A intron_variant PBCA-DE 9 138985696 138985696 single base substitution C G intron_variant PBCA-DE 9 138989793 138989793 single base substitution C G upstream_gene_variant PRAD-CA 9 138898600 138898600 single base substitution C T 3_prime_UTR_variant PRAD-CA 9 138898600 138898600 single base substitution C T downstream_gene_variant PRAD-CA 9 138914684 138914684 single base substitution G A intron_variant PRAD-CA 9 138914684 138914684 single base substitution G A upstream_gene_variant PRAD-CA 9 138916393 138916393 single base substitution A T intron_variant PRAD-CA 9 138950471 138950471 single base substitution G A intron_variant PRAD-CA 9 138962754 138962754 single base substitution T C intron_variant PRAD-UK 9 138925098 138925098 single base substitution G C intron_variant PRAD-UK 9 138925119 138925119 single base substitution G C intron_variant PRAD-UK 9 138947858 138947858 insertion of <=200bp - C intron_variant PRAD-UK 9 138950971 138950971 single base substitution C A intron_variant PRAD-UK 9 138972048 138972048 single base substitution G A intron_variant PRAD-UK 9 138977851 138977851 single base substitution G A intron_variant READ-US 9 138903635 138903635 single base substitution G A downstream_gene_variant READ-US 9 138903635 138903635 single base substitution G A synonymous_variant A497A 1491C>T READ-US 9 138903671 138903671 single base substitution A G downstream_gene_variant READ-US 9 138903671 138903671 single base substitution A G synonymous_variant P485P 1455T>C RECA-EU 9 138899191 138899191 single base substitution G T 3_prime_UTR_variant RECA-EU 9 138899191 138899191 single base substitution G T downstream_gene_variant RECA-EU 9 138900083 138900083 single base substitution C T 3_prime_UTR_variant RECA-EU 9 138900083 138900083 single base substitution C T downstream_gene_variant RECA-EU 9 138904278 138904278 single base substitution A G downstream_gene_variant RECA-EU 9 138904278 138904278 single base substitution A G intron_variant RECA-EU 9 138907650 138907650 single base substitution G T downstream_gene_variant RECA-EU 9 138907650 138907650 single base substitution G T intron_variant RECA-EU 9 138912437 138912437 single base substitution T C intron_variant RECA-EU 9 138912437 138912437 single base substitution T C upstream_gene_variant RECA-EU 9 138948116 138948116 single base substitution T C intron_variant RECA-EU 9 138951139 138951139 single base substitution C A intron_variant RECA-EU 9 138952350 138952350 single base substitution C G intron_variant RECA-EU 9 138957657 138957657 single base substitution C A intron_variant SKCA-BR 9 138893899 138893899 single base substitution C T downstream_gene_variant SKCA-BR 9 138899359 138899361 deletion of <=200bp GCA - 3_prime_UTR_variant SKCA-BR 9 138899359 138899361 deletion of <=200bp GCA - downstream_gene_variant SKCA-BR 9 138899959 138899959 single base substitution G A 3_prime_UTR_variant SKCA-BR 9 138899959 138899959 single base substitution G A downstream_gene_variant SKCA-BR 9 138900063 138900063 single base substitution A C 3_prime_UTR_variant SKCA-BR 9 138900063 138900063 single base substitution A C downstream_gene_variant SKCA-BR 9 138901328 138901328 single base substitution G A 3_prime_UTR_variant SKCA-BR 9 138901328 138901328 single base substitution G A downstream_gene_variant SKCA-BR 9 138902983 138902983 single base substitution C T 3_prime_UTR_variant SKCA-BR 9 138902983 138902983 single base substitution C T downstream_gene_variant SKCA-BR 9 138903531 138903531 single base substitution A C downstream_gene_variant SKCA-BR 9 138903531 138903531 single base substitution A C missense_variant V532G 1595T>G SKCA-BR 9 138903677 138903677 single base substitution G A downstream_gene_variant SKCA-BR 9 138903677 138903677 single base substitution G A synonymous_variant F483F 1449C>T SKCA-BR 9 138904520 138904520 single base substitution C T downstream_gene_variant SKCA-BR 9 138904520 138904520 single base substitution C T intron_variant SKCA-BR 9 138905191 138905191 single base substitution T G downstream_gene_variant SKCA-BR 9 138905191 138905191 single base substitution T G intron_variant SKCA-BR 9 138905832 138905832 single base substitution G A downstream_gene_variant SKCA-BR 9 138905832 138905832 single base substitution G A intron_variant SKCA-BR 9 138905907 138905907 single base substitution T G downstream_gene_variant SKCA-BR 9 138905907 138905907 single base substitution T G intron_variant SKCA-BR 9 138905918 138905918 single base substitution G A downstream_gene_variant SKCA-BR 9 138905918 138905918 single base substitution G A intron_variant SKCA-BR 9 138907988 138907988 single base substitution G A downstream_gene_variant SKCA-BR 9 138907988 138907988 single base substitution G A intron_variant SKCA-BR 9 138908760 138908760 single base substitution T G intron_variant SKCA-BR 9 138910561 138910561 single base substitution G A intron_variant SKCA-BR 9 138911465 138911465 single base substitution G A intron_variant SKCA-BR 9 138911465 138911465 single base substitution G A upstream_gene_variant SKCA-BR 9 138912861 138912861 single base substitution C T intron_variant SKCA-BR 9 138912861 138912861 single base substitution C T upstream_gene_variant SKCA-BR 9 138916253 138916253 single base substitution A T intron_variant SKCA-BR 9 138916253 138916253 single base substitution A T upstream_gene_variant SKCA-BR 9 138916376 138916383 deletion of <=200bp TGTGGACA - intron_variant SKCA-BR 9 138920058 138920058 single base substitution A C intron_variant SKCA-BR 9 138920222 138920222 insertion of <=200bp - CTT intron_variant SKCA-BR 9 138925328 138925328 single base substitution T C intron_variant SKCA-BR 9 138927558 138927558 insertion of <=200bp - TA intron_variant SKCA-BR 9 138934689 138934689 single base substitution T C intron_variant SKCA-BR 9 138937242 138937242 single base substitution T C intron_variant SKCA-BR 9 138937243 138937243 single base substitution G A intron_variant SKCA-BR 9 138949147 138949147 single base substitution G A intron_variant SKCA-BR 9 138949593 138949593 single base substitution A G intron_variant SKCA-BR 9 138951069 138951069 single base substitution G A intron_variant SKCA-BR 9 138954586 138954586 single base substitution C T intron_variant SKCA-BR 9 138954868 138954868 single base substitution G A intron_variant SKCA-BR 9 138955729 138955729 insertion of <=200bp - CA intron_variant SKCA-BR 9 138957982 138957982 single base substitution T C intron_variant SKCA-BR 9 138964696 138964696 insertion of <=200bp - CAAAT intron_variant SKCA-BR 9 138965283 138965284 deletion of <=200bp AT - intron_variant SKCA-BR 9 138965824 138965824 single base substitution G A intron_variant SKCA-BR 9 138968913 138968913 single base substitution C T intron_variant SKCA-BR 9 138970856 138970856 single base substitution G A intron_variant SKCA-BR 9 138973713 138973713 single base substitution G C intron_variant SKCA-BR 9 138977483 138977483 single base substitution T G intron_variant SKCA-BR 9 138979902 138979902 single base substitution G A intron_variant SKCA-BR 9 138979903 138979903 single base substitution T C intron_variant SKCA-BR 9 138985714 138985714 single base substitution T C intron_variant SKCA-BR 9 138985969 138985969 single base substitution G C intron_variant SKCA-BR 9 138986552 138986552 single base substitution G A intron_variant SKCA-BR 9 138986582 138986582 single base substitution G A intron_variant SKCA-BR 9 138987327 138987327 single base substitution A G upstream_gene_variant SKCA-BR 9 138987333 138987333 single base substitution G C upstream_gene_variant SKCA-BR 9 138988473 138988473 single base substitution A C upstream_gene_variant SKCA-BR 9 138988479 138988479 single base substitution A C upstream_gene_variant SKCA-BR 9 138989053 138989054 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 9 138989819 138989819 single base substitution C T upstream_gene_variant SKCA-BR 9 138991054 138991054 single base substitution G A upstream_gene_variant SKCM-US 9 138903368 138903368 single base substitution G A downstream_gene_variant SKCM-US 9 138903368 138903368 single base substitution G A synonymous_variant T586T 1758C>T SKCM-US 9 138903681 138903681 deletion of <=200bp T - downstream_gene_variant SKCM-US 9 138903681 138903681 deletion of <=200bp T - frameshift_variant E482 SKCM-US 9 138905067 138905067 single base substitution G A downstream_gene_variant SKCM-US 9 138905067 138905067 single base substitution G A synonymous_variant S411S 1233C>T SKCM-US 9 138908222 138908222 single base substitution G A exon_variant SKCM-US 9 138908222 138908222 single base substitution G A missense_variant R314C 940C>T STAD-US 9 138903451 138903451 single base substitution A G downstream_gene_variant STAD-US 9 138903451 138903451 single base substitution A G missense_variant F559L 1675T>C THCA-SA 9 138903671 138903671 single base substitution A G downstream_gene_variant THCA-SA 9 138903671 138903671 single base substitution A G synonymous_variant P485P 1455T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BT-A20J-01 COSM422448 c.1407C>T p.V469V Substitution - coding silent 9:136011873-136011873 - RKO COSM4649298 c.1331C>G p.A444G Substitution - Missense 9:136011949-136011949 - ESCC_BICR_049T COSM5433354 c.1234C>T p.R412W Substitution - Missense 9:136013220-136013220 - TCGA-F4-6463-01 COSM3750162 c.1455T>C p.P485P Substitution - coding silent 9:136011825-136011825 - AOCS-088-3-8 COSM4152162 c.1288G>T p.E430* Substitution - Nonsense 9:136011992-136011992 - ACINAR01 COSM1733225 c.1429G>A p.V477M Substitution - Missense 9:136011851-136011851 - S02347 COSM5694371 c.1305G>T p.V435V Substitution - coding silent 9:136011975-136011975 - Pat_65_A COSM5875833 c.1180_1181GG>AA p.G394K Substitution - Missense 9:136013273-136013274 - TCGA-AY-6386-01 COSM3750162 c.1455T>C p.P485P Substitution - coding silent 9:136011825-136011825 - CSCC-31-T COSM4526228 c.1381G>A p.E461K Substitution - Missense 9:136011899-136011899 - TCGA-D1-A17M-01 COSM1106734 c.1272C>T p.F424F Substitution - coding silent 9:136012008-136012008 - TCGA-AG-3591-01 COSM3750162 c.1455T>C p.P485P Substitution - coding silent 9:136011825-136011825 - TCGA-CA-6717-01 COSM3750162 c.1455T>C p.P485P Substitution - coding silent 9:136011825-136011825 - 08-P054 COSM4588587 c.951C>T p.L317L Substitution - coding silent 9:136016365-136016365 - TCGA-EK-A2RK-01 COSM4828848 c.1492G>A p.E498K Substitution - Missense 9:136011788-136011788 - PTC-54C COSM3750161 c.1491C>T p.A497A Substitution - coding silent 9:136011789-136011789 - ZZUFHECRKL-G055T COSM5192096 c.1312G>A p.A438T Substitution - Missense 9:136011968-136011968 - TCGA-ES-A2HT-01 COSM4938603 c.1098G>A p.L366L Substitution - coding silent 9:136013923-136013923 - TCGA-AA-3713-01 COSM3763758 c.1456G>A p.A486T Substitution - Missense 9:136011824-136011824 - sysucc-918T COSM5453539 c.1334G>A p.R445H Substitution - Missense 9:136011946-136011946 - RMS77_ COSM4988401 c.1163C>T p.T388M Substitution - Missense 9:136013291-136013291 - 19 COSM5747094 c.1559C>T p.A520V Substitution - Missense 9:136011721-136011721 - ESCC_BICR_023T COSM5436546 c.1651G>A p.D551N Substitution - Missense 9:136011629-136011629 - KPOPBR-40-T COSM5965914 c.1734G>C p.R578S Substitution - Missense 9:136011546-136011546 - TCGA-G4-6626-01 COSM1461029 c.1399C>T p.R467C Substitution - Missense 9:136011881-136011881 - TCGA-BP-4167-01 COSM1137968 c.944G>A p.R315H Substitution - Missense 9:136016372-136016372 - 54 COSM5734931 c.1667C>T p.P556L Substitution - Missense 9:136011613-136011613 - SNUH_G73_S1 COSM3763760 c.912G>A p.P304P Substitution - coding silent 9:136016404-136016404 - OSCC-GB_00650111 COSM4890474 c.1392G>T p.E464D Substitution - Missense 9:136011888-136011888 - ZZUFHECRKL-G045T COSM3750162 c.1455T>C p.P485P Substitution - coding silent 9:136011825-136011825 - Pat_06_A COSM5875834 c.962C>T p.P321L Substitution - Missense 9:136016354-136016354 - BD57T COSM5510401 c.1460C>T p.A487V Substitution - Missense 9:136011820-136011820 - LUAD_E00565 COSM389723 c.936C>T p.L312L Substitution - coding silent 9:136016380-136016380 - TCGA-AZ-6598-01 COSM1461030 c.1380G>A p.P460P Substitution - coding silent 9:136011900-136011900 - YUGASP COSM1701953 c.998A>T p.H333L Substitution - Missense 9:136016318-136016318 - TCGA-13-2057-01 COSM1330639 c.1310C>A p.A437D Substitution - Missense 9:136011970-136011970 - T2769 COSM4705405 c.930C>T p.C310C Substitution - coding silent 9:136016386-136016386 - TCGA-G4-6309-01 COSM1461031 c.1165C>A p.L389M Substitution - Missense 9:136013289-136013289 - sysucc-1247T COSM3215102 c.1641G>A p.P547P Substitution - coding silent 9:136011639-136011639 - CCK81 COSM4620868 c.1417G>A p.A473T Substitution - Missense 9:136011863-136011863 - CSCC-52-T COSM3215104 c.1129C>T p.R377W Substitution - Missense 9:136013892-136013892 - RMS66_ COSM4988090 c.1420G>C p.A474P Substitution - Missense 9:136011860-136011860 - BN20T COSM1624711 c.1489G>A p.A497T Substitution - Missense 9:136011791-136011791 - LUAD-FH5PJ COSM403984 c.1535A>G p.D512G Substitution - Missense 9:136011745-136011745 - SNU-C4 COSM4654460 c.1539C>T p.A513A Substitution - coding silent 9:136011741-136011741 - TP_2020 COSM5550134 c.1630G>C p.A544P Substitution - Missense 9:136011650-136011650 - 585208 COSM325904 c.1688G>T p.G563V Substitution - Missense 9:136011592-136011592 - HCC054T COSM5809716 c.1312G>T p.A438S Substitution - Missense 9:136011968-136011968 - TCGA-EE-A3J7-06 COSM3926437 c.940C>T p.R314C Substitution - Missense 9:136016376-136016376 - TCGA-CG-4444-01 COSM3905619 c.1675T>C p.F559L Substitution - Missense 9:136011605-136011605 - T407 COSM4705403 c.1550A>G p.D517G Substitution - Missense 9:136011730-136011730 - TCGA-DC-6681-01 COSM3750161 c.1491C>T p.A497A Substitution - coding silent 9:136011789-136011789 - TCGA-DD-A73A-01 COSM4916589 c.1522G>T p.A508S Substitution - Missense 9:136011758-136011758 - TCGA-FW-A3R5-06 COSM3926436 c.1758C>T p.T586T Substitution - coding silent 9:136011522-136011522 - TCGA-F5-6571-01 COSM3750162 c.1455T>C p.P485P Substitution - coding silent 9:136011825-136011825 - T3064 COSM4705404 c.1302C>T p.N434N Substitution - coding silent 9:136011978-136011978 - T2963 COSM4705402 c.1587C>T p.G529G Substitution - coding silent 9:136011693-136011693 - B41 COSM1756040 c.1052-2A>G p.? Unknown 9:136013971-136013971 - AOCS-088-1-0 COSM4152162 c.1288G>T p.E430* Substitution - Nonsense 9:136011992-136011992 - TCGA-G4-6588-01 COSM1461032 c.992G>A p.R331H Substitution - Missense 9:136016324-136016324 - TCGA-G4-6628-01 COSM1461033 c.941G>A p.R314H Substitution - Missense 9:136016375-136016375 - PTC-54C COSM3750162 c.1455T>C p.P485P Substitution - coding silent 9:136011825-136011825 - M019 COSM1739524 c.1247C>T p.A416V Substitution - Missense 9:136013207-136013207 - TCGA-76-4926-01 COSM1461029 c.1399C>T p.R467C Substitution - Missense 9:136011881-136011881 - TCGA-EE-A3AC-06 COSM3655682 c.1233C>T p.S411S Substitution - coding silent 9:136013221-136013221 - pfg413T COSM4761902 c.1403C>T p.T468M Substitution - Missense 9:136011877-136011877 - TCGA-BG-A0VZ-01 COSM1106735 c.906A>G p.P302P Substitution - coding silent 9:136016410-136016410 - TCGA-AM-5820-01 COSM3763759 c.1164G>A p.T388T Substitution - coding silent 9:136013290-136013290 - TCGA-AZ-4615-01 COSM3763760 c.912G>A p.P304P Substitution - coding silent 9:136016404-136016404 - BN20 COSM1624711 c.1489G>A p.A497T Substitution - Missense 9:136011791-136011791 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.112880;Hs.112889;Hs.112890;Hs.112893;Hs.112895 9q34.3 2426989|CGAP|BC015649|C/T|coding|Ala497Ala|1631|Validated; 2426990|CGAP|BC015649|A/G|coding|Thr388Thr|1304|Validated; 1531902|dbSNP|BC015649|C/T|coding|Ala497Ala|1631|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 3-UTRSNV . c.1761+355T>C 9 138903010 CLL A G Missense p.F559L c.1675T>C 9 138903451 STAD C A Missense p.G563V c.1688G>T 9 138903438 SCLC C T Missense p.R577Q c.1730G>A 9 138903396 BRCA G A 3-UTRSNV . c.1761+4838C>T 9 138898527 MB G A Missense p.R314C c.940C>T 9 138908222 CM G A Missense p.R467C c.1399C>T 9 138903727 GBM G A Synonymous p.S411S c.1233C>T 9 138905067 CM G A Synonymous p.V413V c.1239C>T 9 138905061 CM G A Synonymous p.V469V c.1407C>T 9 138903719 BLCA GG AA Missense p.P404F c.1210_1211delinsTT 9 138905089 CM T - Frameshift p.E482Gfs*28 c.1445delA 9 138903681 CM