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 1 31762157 31762157 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr1:31762157G>T c.475C>A c.(475-477)Cca>Aca p.P159T BLCA 1 31762255 31762255 + Nonsense_Mutation SNP G G C TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr1:31762255G>C c.377C>G c.(376-378)tCa>tGa p.S126* BRCA 1 31769474 31769474 + Missense_Mutation SNP C C T TCGA-A1-A0SI-01A-11D-A142-09 TCGA-A1-A0SI-10B-01D-A142-09 g.chr1:31769474C>T c.125G>A c.(124-126)gGa>gAa p.G42E BRCA 1 31769548 31769548 + Silent SNP G G A TCGA-BH-A0HQ-01A-11W-A050-09 TCGA-BH-A0HQ-10A-01W-A055-09 g.chr1:31769548G>A c.51C>T c.(49-51)gtC>gtT p.V17V COAD 1 31762115 31762115 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:31762115C>T c.517G>A c.(517-519)Gat>Aat p.D173N COAD 1 31762251 31762251 + Silent SNP T T C TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr1:31762251T>C c.381A>G c.(379-381)gcA>gcG p.A127A COAD 1 31766185 31766185 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:31766185C>A c.152G>T c.(151-153)aGa>aTa p.R51I COADREAD 1 31762115 31762115 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:31762115C>T c.517G>A c.(517-519)Gat>Aat p.D173N COADREAD 1 31762251 31762251 + Silent SNP T T C TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr1:31762251T>C c.381A>G c.(379-381)gcA>gcG p.A127A COADREAD 1 31766185 31766185 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:31766185C>A c.152G>T c.(151-153)aGa>aTa p.R51I ESCA 1 31754335 31754335 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 g.chr1:31754335G>T c.540C>A c.(538-540)gaC>gaA p.D180E ESCA 1 31766179 31766179 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 g.chr1:31766179G>T c.158C>A c.(157-159)tCc>tAc p.S53Y GBMLGG 1 31744294 31744294 + Missense_Mutation SNP T T C TCGA-HT-7688-01A-11D-2253-08 TCGA-HT-7688-10A-01D-2253-08 g.chr1:31744294T>C c.707A>G c.(706-708)gAt>gGt p.D236G HNSC 1 31734445 31734445 + Missense_Mutation SNP T T A TCGA-T2-A6WZ-01A-21D-A34J-08 TCGA-T2-A6WZ-10B-01D-A34M-08 g.chr1:31734445T>A c.955A>T c.(955-957)Ata>Tta p.I319L HNSC 1 31740720 31740720 + Silent SNP G G A TCGA-CV-A461-01A-41D-A25Y-08 TCGA-CV-A461-10A-01D-A25Y-08 g.chr1:31740720G>A c.918C>T c.(916-918)gaC>gaT p.D306D HNSC 1 31754270 31754270 + Missense_Mutation SNP T T A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 g.chr1:31754270T>A c.605A>T c.(604-606)aAt>aTt p.N202I HNSC 1 31769513 31769513 + Missense_Mutation SNP C C A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 g.chr1:31769513C>A c.86G>T c.(85-87)gGg>gTg p.G29V KIPAN 1 31744229 31744229 + Missense_Mutation SNP T T A TCGA-SX-A71U-01A-12D-A33Q-10 TCGA-SX-A71U-10A-01D-A33Q-10 g.chr1:31744229T>A c.772A>T c.(772-774)Aca>Tca p.T258S KIPAN 1 31766074 31766074 + Missense_Mutation SNP C C T TCGA-CZ-4865-01A-02D-1501-10 TCGA-CZ-4865-11A-01D-1501-10 g.chr1:31766074C>T c.263G>A c.(262-264)cGa>cAa p.R88Q KIRC 1 31766074 31766074 + Missense_Mutation SNP C C T TCGA-CZ-4865-01A-02D-1501-10 TCGA-CZ-4865-11A-01D-1501-10 g.chr1:31766074C>T c.263G>A c.(262-264)cGa>cAa p.R88Q KIRP 1 31744229 31744229 + Missense_Mutation SNP T T A TCGA-SX-A71U-01A-12D-A33Q-10 TCGA-SX-A71U-10A-01D-A33Q-10 g.chr1:31744229T>A c.772A>T c.(772-774)Aca>Tca p.T258S LGG 1 31744294 31744294 + Missense_Mutation SNP T T C TCGA-HT-7688-01A-11D-2253-08 TCGA-HT-7688-10A-01D-2253-08 g.chr1:31744294T>C c.707A>G c.(706-708)gAt>gGt p.D236G LIHC 1 31766196 31766196 + Splice_Site SNP C C A TCGA-DD-AAE7-01A-11D-A40R-10 TCGA-DD-AAE7-10A-01D-A40U-10 g.chr1:31766196C>A c.e2-1 LUAD 1 31740734 31740734 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 g.chr1:31740734C>A c.904G>T c.(904-906)Gct>Tct p.A302S LUAD 1 31744346 31744346 + Splice_Site SNP C C A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr1:31744346C>A c.655G>T c.(655-657)Gtc>Ttc p.V219F LUAD 1 31762255 31762255 + Nonsense_Mutation SNP G G C TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 g.chr1:31762255G>C c.377C>G c.(376-378)tCa>tGa p.S126* LUAD 1 31769485 31769485 + Missense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 g.chr1:31769485C>A c.114G>T c.(112-114)caG>caT p.Q38H LUAD 1 31769578 31769578 + Silent SNP A A T TCGA-95-A4VN-01A-11D-A25L-08 TCGA-95-A4VN-10A-01D-A25L-08 g.chr1:31769578A>T c.21T>A c.(19-21)cgT>cgA p.R7R LUAD 1 31769581 31769581 + Missense_Mutation SNP C C A TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chr1:31769581C>A c.18G>T c.(16-18)aaG>aaT p.K6N OV 1 31764789 31764789 + Silent SNP C C T TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 g.chr1:31764789C>T c.336G>A c.(334-336)gtG>gtA p.V112V PAAD 1 31766156 31766156 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:31766156G>A c.181C>T c.(181-183)Ctg>Ttg p.L61L PRAD 1 31734425 31734425 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:31734425G>A c.975C>T c.(973-975)ggC>ggT p.G325G PRAD 1 31744302 31744302 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:31744302G>A c.699C>T c.(697-699)ggC>ggT p.G233G SKCM 1 31742085 31742085 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr1:31742085G>A c.778C>T c.(778-780)Cgt>Tgt p.R260C SKCM 1 31744311 31744311 + Silent SNP G G A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 g.chr1:31744311G>A c.690C>T c.(688-690)acC>acT p.T230T SKCM 1 31754332 31754332 + Silent SNP G G A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr1:31754332G>A c.543C>T c.(541-543)atC>atT p.I181I SKCM 1 31762188 31762188 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr1:31762188C>T c.444G>A c.(442-444)aaG>aaA p.K148K SKCM 1 31769575 31769575 + Silent SNP C C T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 g.chr1:31769575C>T c.24G>A c.(22-24)aaG>aaA p.K8K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 31769573 31769573 single base substitution C T exon_variant BLCA-CN 1 31769573 31769573 single base substitution C T missense_variant G9D 26G>A BRCA-EU 1 31729112 31729112 single base substitution G C downstream_gene_variant BRCA-EU 1 31729125 31729125 single base substitution T C downstream_gene_variant BRCA-EU 1 31731436 31731436 single base substitution T C downstream_gene_variant BRCA-EU 1 31731737 31731737 single base substitution G A downstream_gene_variant BRCA-EU 1 31732037 31732037 single base substitution C A downstream_gene_variant BRCA-EU 1 31733238 31733238 single base substitution C T intron_variant BRCA-EU 1 31733822 31733822 single base substitution G A exon_variant BRCA-EU 1 31733822 31733822 single base substitution G A intron_variant BRCA-EU 1 31733822 31733822 single base substitution G A missense_variant S409F 1226C>T BRCA-EU 1 31734659 31734659 single base substitution G C exon_variant BRCA-EU 1 31734659 31734659 single base substitution G C intron_variant BRCA-EU 1 31734659 31734659 single base substitution G C upstream_gene_variant BRCA-EU 1 31735159 31735159 single base substitution G C intron_variant BRCA-EU 1 31735159 31735159 single base substitution G C upstream_gene_variant BRCA-EU 1 31737479 31737479 single base substitution T C intron_variant BRCA-EU 1 31737479 31737479 single base substitution T C upstream_gene_variant BRCA-EU 1 31737741 31737741 single base substitution G T intron_variant BRCA-EU 1 31737741 31737741 single base substitution G T upstream_gene_variant BRCA-EU 1 31739859 31739859 single base substitution C G downstream_gene_variant BRCA-EU 1 31739859 31739859 single base substitution C G intron_variant BRCA-EU 1 31740612 31740612 single base substitution C T downstream_gene_variant BRCA-EU 1 31740612 31740612 single base substitution C T intron_variant BRCA-EU 1 31740808 31740808 single base substitution T C downstream_gene_variant BRCA-EU 1 31740808 31740808 single base substitution T C intron_variant BRCA-EU 1 31740850 31740850 single base substitution G C downstream_gene_variant BRCA-EU 1 31740850 31740850 single base substitution G C intron_variant BRCA-EU 1 31741423 31741423 single base substitution A T downstream_gene_variant BRCA-EU 1 31741423 31741423 single base substitution A T intron_variant BRCA-EU 1 31741634 31741634 single base substitution G A downstream_gene_variant BRCA-EU 1 31741634 31741634 single base substitution G A intron_variant BRCA-EU 1 31744148 31744148 single base substitution C G exon_variant BRCA-EU 1 31744148 31744148 single base substitution C G intron_variant BRCA-EU 1 31744148 31744148 single base substitution C G upstream_gene_variant BRCA-EU 1 31744908 31744908 single base substitution C G intron_variant BRCA-EU 1 31744908 31744908 single base substitution C G upstream_gene_variant BRCA-EU 1 31745302 31745302 single base substitution C G intron_variant BRCA-EU 1 31745302 31745302 single base substitution C G upstream_gene_variant BRCA-EU 1 31746198 31746198 insertion of <=200bp - A intron_variant BRCA-EU 1 31746198 31746198 insertion of <=200bp - A upstream_gene_variant BRCA-EU 1 31747219 31747219 single base substitution G T intron_variant BRCA-EU 1 31747219 31747219 single base substitution G T upstream_gene_variant BRCA-EU 1 31750456 31750456 single base substitution G T intron_variant BRCA-EU 1 31750990 31750990 single base substitution G C intron_variant BRCA-EU 1 31756830 31756830 single base substitution G A intron_variant BRCA-EU 1 31756830 31756830 single base substitution G A upstream_gene_variant BRCA-EU 1 31757781 31757781 single base substitution C G intron_variant BRCA-EU 1 31757781 31757781 single base substitution C G upstream_gene_variant BRCA-EU 1 31761661 31761661 single base substitution C T downstream_gene_variant BRCA-EU 1 31761661 31761661 single base substitution C T intron_variant BRCA-EU 1 31761907 31761907 single base substitution C A downstream_gene_variant BRCA-EU 1 31761907 31761907 single base substitution C A intron_variant BRCA-EU 1 31764530 31764530 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 31764530 31764530 deletion of <=200bp A - intron_variant BRCA-EU 1 31764530 31764530 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 31764543 31764543 single base substitution T A downstream_gene_variant BRCA-EU 1 31764543 31764543 single base substitution T A intron_variant BRCA-EU 1 31764543 31764543 single base substitution T A upstream_gene_variant BRCA-EU 1 31764543 31764543 single base substitution T C downstream_gene_variant BRCA-EU 1 31764543 31764543 single base substitution T C intron_variant BRCA-EU 1 31764543 31764543 single base substitution T C upstream_gene_variant BRCA-EU 1 31765037 31765037 single base substitution C A downstream_gene_variant BRCA-EU 1 31765037 31765037 single base substitution C A intron_variant BRCA-EU 1 31765037 31765037 single base substitution C A upstream_gene_variant BRCA-EU 1 31765132 31765132 single base substitution C T downstream_gene_variant BRCA-EU 1 31765132 31765132 single base substitution C T intron_variant BRCA-EU 1 31765132 31765132 single base substitution C T upstream_gene_variant BRCA-EU 1 31765188 31765188 single base substitution G T downstream_gene_variant BRCA-EU 1 31765188 31765188 single base substitution G T intron_variant BRCA-EU 1 31765188 31765188 single base substitution G T upstream_gene_variant BRCA-EU 1 31769771 31769771 single base substitution T G upstream_gene_variant BRCA-EU 1 31771698 31771698 single base substitution C T upstream_gene_variant BRCA-EU 1 31772081 31772081 single base substitution C A upstream_gene_variant BRCA-EU 1 31774355 31774355 single base substitution G C upstream_gene_variant BRCA-EU 1 31774553 31774553 single base substitution G T upstream_gene_variant BRCA-FR 1 31733238 31733238 single base substitution C T intron_variant BRCA-FR 1 31733822 31733822 single base substitution G A exon_variant BRCA-FR 1 31733822 31733822 single base substitution G A intron_variant BRCA-FR 1 31733822 31733822 single base substitution G A missense_variant S409F 1226C>T BRCA-FR 1 31734659 31734659 single base substitution G C exon_variant BRCA-FR 1 31734659 31734659 single base substitution G C intron_variant BRCA-FR 1 31734659 31734659 single base substitution G C upstream_gene_variant BRCA-FR 1 31735159 31735159 single base substitution G C intron_variant BRCA-FR 1 31735159 31735159 single base substitution G C upstream_gene_variant BRCA-FR 1 31744908 31744908 single base substitution C G intron_variant BRCA-FR 1 31744908 31744908 single base substitution C G upstream_gene_variant BRCA-US 1 31732678 31732678 deletion of <=200bp A - 3_prime_UTR_variant BRCA-US 1 31732678 31732678 deletion of <=200bp A - downstream_gene_variant BRCA-US 1 31732678 31732678 deletion of <=200bp A - exon_variant BRCA-US 1 31769474 31769474 single base substitution C T exon_variant BRCA-US 1 31769474 31769474 single base substitution C T missense_variant G42E 125G>A BRCA-US 1 31769548 31769548 single base substitution G A exon_variant BRCA-US 1 31769548 31769548 single base substitution G A synonymous_variant V17V 51C>T BTCA-JP 1 31732584 31732584 single base substitution T C 3_prime_UTR_variant BTCA-JP 1 31732584 31732584 single base substitution T C downstream_gene_variant BTCA-JP 1 31732584 31732584 single base substitution T C exon_variant BTCA-JP 1 31754157 31754157 single base substitution T A intron_variant BTCA-JP 1 31769682 31769682 single base substitution C G upstream_gene_variant CESC-US 1 31754370 31754370 single base substitution C T exon_variant CESC-US 1 31754370 31754370 single base substitution C T intron_variant CLLE-ES 1 31761582 31761582 insertion of <=200bp - TA downstream_gene_variant CLLE-ES 1 31761582 31761582 insertion of <=200bp - TA intron_variant CLLE-ES 1 31765160 31765160 single base substitution G A downstream_gene_variant CLLE-ES 1 31765160 31765160 single base substitution G A intron_variant CLLE-ES 1 31765160 31765160 single base substitution G A upstream_gene_variant CLLE-ES 1 31767917 31767917 single base substitution C T intron_variant COAD-US 1 31762115 31762115 single base substitution C T downstream_gene_variant COAD-US 1 31762115 31762115 single base substitution C T exon_variant COAD-US 1 31762115 31762115 single base substitution C T missense_variant D173N 517G>A COAD-US 1 31766185 31766185 single base substitution C A exon_variant COAD-US 1 31766185 31766185 single base substitution C A missense_variant R51I 152G>T COAD-US 1 31766185 31766185 single base substitution C A upstream_gene_variant COCA-CN 1 31733926 31733926 single base substitution A G intron_variant COCA-CN 1 31733926 31733926 single base substitution A G synonymous_variant G374G 1122T>C COCA-CN 1 31733926 31733926 single base substitution A G upstream_gene_variant COCA-CN 1 31742033 31742033 single base substitution A C downstream_gene_variant COCA-CN 1 31742033 31742033 single base substitution A C exon_variant COCA-CN 1 31742033 31742033 single base substitution A C missense_variant F277C 830T>G COCA-CN 1 31742033 31742033 single base substitution A C missense_variant F47C 140T>G COCA-CN 1 31744508 31744508 single base substitution T C intron_variant COCA-CN 1 31744508 31744508 single base substitution T C upstream_gene_variant COCA-CN 1 31744512 31744512 single base substitution T G intron_variant COCA-CN 1 31744512 31744512 single base substitution T G upstream_gene_variant COCA-CN 1 31763190 31763190 single base substitution C G downstream_gene_variant COCA-CN 1 31763190 31763190 single base substitution C G intron_variant COCA-CN 1 31763190 31763190 single base substitution C G upstream_gene_variant COCA-CN 1 31769383 31769383 single base substitution A G intron_variant ESAD-UK 1 31728917 31728917 single base substitution C T downstream_gene_variant ESAD-UK 1 31732224 31732224 insertion of <=200bp - A downstream_gene_variant ESAD-UK 1 31735943 31735953 deletion of <=200bp AATACTACTGA - intron_variant ESAD-UK 1 31735943 31735953 deletion of <=200bp AATACTACTGA - upstream_gene_variant ESAD-UK 1 31737811 31737811 single base substitution C T intron_variant ESAD-UK 1 31737811 31737811 single base substitution C T upstream_gene_variant ESAD-UK 1 31738483 31738483 single base substitution T G intron_variant ESAD-UK 1 31738483 31738483 single base substitution T G upstream_gene_variant ESAD-UK 1 31739457 31739457 single base substitution C T downstream_gene_variant ESAD-UK 1 31739457 31739457 single base substitution C T intron_variant ESAD-UK 1 31739457 31739457 single base substitution C T upstream_gene_variant ESAD-UK 1 31747229 31747229 single base substitution G A intron_variant ESAD-UK 1 31747229 31747229 single base substitution G A upstream_gene_variant ESAD-UK 1 31747925 31747925 single base substitution T C intron_variant ESAD-UK 1 31750534 31750534 single base substitution G A intron_variant ESAD-UK 1 31751907 31751907 single base substitution A C intron_variant ESAD-UK 1 31753651 31753651 single base substitution A G intron_variant ESAD-UK 1 31758452 31758452 single base substitution C G intron_variant ESAD-UK 1 31758452 31758452 single base substitution C G upstream_gene_variant ESAD-UK 1 31758590 31758590 single base substitution C T intron_variant ESAD-UK 1 31758590 31758590 single base substitution C T upstream_gene_variant ESAD-UK 1 31759568 31759568 single base substitution A G intron_variant ESAD-UK 1 31759568 31759568 single base substitution A G upstream_gene_variant ESAD-UK 1 31760314 31760314 single base substitution C T intron_variant ESAD-UK 1 31760314 31760314 single base substitution C T upstream_gene_variant ESAD-UK 1 31763739 31763742 deletion of <=200bp AAAT - downstream_gene_variant ESAD-UK 1 31763739 31763742 deletion of <=200bp AAAT - intron_variant ESAD-UK 1 31763739 31763742 deletion of <=200bp AAAT - upstream_gene_variant ESAD-UK 1 31766438 31766438 deletion of <=200bp T - intron_variant ESAD-UK 1 31766438 31766438 deletion of <=200bp T - upstream_gene_variant ESAD-UK 1 31769753 31769753 single base substitution C G upstream_gene_variant ESAD-UK 1 31769772 31769772 single base substitution T G upstream_gene_variant ESAD-UK 1 31769925 31769925 single base substitution A G upstream_gene_variant ESAD-UK 1 31772193 31772193 single base substitution C T upstream_gene_variant ESAD-UK 1 31774168 31774168 single base substitution A C upstream_gene_variant KIRC-US 1 31766074 31766074 single base substitution C T exon_variant KIRC-US 1 31766074 31766074 single base substitution C T missense_variant R88Q 263G>A KIRC-US 1 31766074 31766074 single base substitution C T upstream_gene_variant LAML-KR 1 31764693 31764693 single base substitution G A downstream_gene_variant LAML-KR 1 31764693 31764693 single base substitution G A intron_variant LAML-KR 1 31764693 31764693 single base substitution G A upstream_gene_variant LGG-US 1 31744294 31744294 single base substitution T C exon_variant LGG-US 1 31744294 31744294 single base substitution T C missense_variant D236G 707A>G LGG-US 1 31744294 31744294 single base substitution T C upstream_gene_variant LICA-CN 1 31740758 31740758 single base substitution A G downstream_gene_variant LICA-CN 1 31740758 31740758 single base substitution A G exon_variant LICA-CN 1 31740758 31740758 single base substitution A G missense_variant S294P 880T>C LICA-CN 1 31740758 31740758 single base substitution A G missense_variant S64P 190T>C LICA-FR 1 31736189 31736189 deletion of <=200bp T - intron_variant LICA-FR 1 31736189 31736189 deletion of <=200bp T - upstream_gene_variant LICA-FR 1 31751271 31751271 single base substitution T C intron_variant LICA-FR 1 31753087 31753087 single base substitution C T intron_variant LICA-FR 1 31759786 31759786 single base substitution G A intron_variant LICA-FR 1 31759786 31759786 single base substitution G A upstream_gene_variant LINC-JP 1 31732677 31732677 single base substitution G A 3_prime_UTR_variant LINC-JP 1 31732677 31732677 single base substitution G A downstream_gene_variant LINC-JP 1 31732677 31732677 single base substitution G A exon_variant LINC-JP 1 31732981 31732981 single base substitution G C intron_variant LINC-JP 1 31734048 31734048 single base substitution A T intron_variant LINC-JP 1 31734048 31734048 single base substitution A T upstream_gene_variant LINC-JP 1 31735223 31735223 single base substitution C T intron_variant LINC-JP 1 31735223 31735223 single base substitution C T upstream_gene_variant LINC-JP 1 31739250 31739250 single base substitution C T downstream_gene_variant LINC-JP 1 31739250 31739250 single base substitution C T intron_variant LINC-JP 1 31739250 31739250 single base substitution C T upstream_gene_variant LINC-JP 1 31754856 31754856 single base substitution A C exon_variant LINC-JP 1 31754856 31754856 single base substitution A C intron_variant LINC-JP 1 31754872 31754872 single base substitution G T exon_variant LINC-JP 1 31754872 31754872 single base substitution G T intron_variant LINC-JP 1 31767941 31767941 single base substitution T C intron_variant LINC-JP 1 31770191 31770191 single base substitution G C upstream_gene_variant LIRI-JP 1 31727510 31727510 single base substitution G C downstream_gene_variant LIRI-JP 1 31734324 31734324 single base substitution C T intron_variant LIRI-JP 1 31734324 31734324 single base substitution C T upstream_gene_variant LIRI-JP 1 31735113 31735113 single base substitution T C intron_variant LIRI-JP 1 31735113 31735113 single base substitution T C upstream_gene_variant LIRI-JP 1 31741111 31741111 deletion of <=200bp C - downstream_gene_variant LIRI-JP 1 31741111 31741111 deletion of <=200bp C - intron_variant LIRI-JP 1 31743196 31743196 single base substitution T A downstream_gene_variant LIRI-JP 1 31743196 31743196 single base substitution T A intron_variant LIRI-JP 1 31743196 31743196 single base substitution T A upstream_gene_variant LIRI-JP 1 31745445 31745445 single base substitution T C intron_variant LIRI-JP 1 31745445 31745445 single base substitution T C upstream_gene_variant LIRI-JP 1 31746575 31746575 single base substitution T C intron_variant LIRI-JP 1 31746575 31746575 single base substitution T C upstream_gene_variant LIRI-JP 1 31748082 31748082 single base substitution T C intron_variant LIRI-JP 1 31750200 31750200 single base substitution T C intron_variant LIRI-JP 1 31751503 31751503 single base substitution T C intron_variant LIRI-JP 1 31754055 31754055 single base substitution T C intron_variant LIRI-JP 1 31759812 31759812 single base substitution T A intron_variant LIRI-JP 1 31759812 31759812 single base substitution T A upstream_gene_variant LIRI-JP 1 31759920 31759920 single base substitution C T intron_variant LIRI-JP 1 31759920 31759920 single base substitution C T upstream_gene_variant LIRI-JP 1 31761218 31761218 single base substitution T C downstream_gene_variant LIRI-JP 1 31761218 31761218 single base substitution T C intron_variant LIRI-JP 1 31764178 31764178 single base substitution A C downstream_gene_variant LIRI-JP 1 31764178 31764178 single base substitution A C intron_variant LIRI-JP 1 31764178 31764178 single base substitution A C upstream_gene_variant LIRI-JP 1 31769771 31769771 single base substitution T C upstream_gene_variant LIRI-JP 1 31770237 31770237 single base substitution G A upstream_gene_variant LIRI-JP 1 31770788 31770788 single base substitution A G upstream_gene_variant LIRI-JP 1 31773806 31773806 single base substitution T G upstream_gene_variant LIRI-JP 1 31774180 31774180 single base substitution A G upstream_gene_variant LIRI-JP 1 31774390 31774390 single base substitution A G upstream_gene_variant LUSC-KR 1 31732892 31732892 single base substitution G A 3_prime_UTR_variant LUSC-KR 1 31732892 31732892 single base substitution G A exon_variant LUSC-KR 1 31736507 31736507 single base substitution A G intron_variant LUSC-KR 1 31736507 31736507 single base substitution A G upstream_gene_variant LUSC-KR 1 31740640 31740640 single base substitution A G downstream_gene_variant LUSC-KR 1 31740640 31740640 single base substitution A G intron_variant LUSC-KR 1 31742687 31742687 single base substitution G C downstream_gene_variant LUSC-KR 1 31742687 31742687 single base substitution G C intron_variant LUSC-KR 1 31742687 31742687 single base substitution G C upstream_gene_variant LUSC-KR 1 31745056 31745056 single base substitution C A intron_variant LUSC-KR 1 31745056 31745056 single base substitution C A upstream_gene_variant LUSC-KR 1 31745837 31745837 single base substitution T C intron_variant LUSC-KR 1 31745837 31745837 single base substitution T C upstream_gene_variant LUSC-KR 1 31748103 31748103 single base substitution G A intron_variant LUSC-KR 1 31749642 31749642 single base substitution G A intron_variant LUSC-KR 1 31749945 31749945 single base substitution G A intron_variant LUSC-KR 1 31751999 31751999 single base substitution G C intron_variant LUSC-KR 1 31758426 31758426 single base substitution C G intron_variant LUSC-KR 1 31758426 31758426 single base substitution C G upstream_gene_variant LUSC-KR 1 31761029 31761029 single base substitution C A downstream_gene_variant LUSC-KR 1 31761029 31761029 single base substitution C A intron_variant LUSC-KR 1 31768620 31768620 single base substitution C T intron_variant LUSC-KR 1 31772184 31772184 single base substitution A T upstream_gene_variant MALY-DE 1 31733857 31733857 single base substitution T G exon_variant MALY-DE 1 31733857 31733857 single base substitution T G intron_variant MALY-DE 1 31733857 31733857 single base substitution T G synonymous_variant I397I 1191A>C MALY-DE 1 31733871 31733871 single base substitution A G exon_variant MALY-DE 1 31733871 31733871 single base substitution A G intron_variant MALY-DE 1 31733871 31733871 single base substitution A G missense_variant S393P 1177T>C MALY-DE 1 31742123 31742123 single base substitution A C downstream_gene_variant MALY-DE 1 31742123 31742123 single base substitution A C intron_variant MALY-DE 1 31742123 31742123 single base substitution A C missense_variant V17G 50T>G MALY-DE 1 31746526 31746526 single base substitution T G intron_variant MALY-DE 1 31746526 31746526 single base substitution T G upstream_gene_variant MALY-DE 1 31750543 31750543 single base substitution C T intron_variant MALY-DE 1 31758894 31758894 single base substitution G A intron_variant MALY-DE 1 31758894 31758894 single base substitution G A upstream_gene_variant MALY-DE 1 31760147 31760147 single base substitution C G intron_variant MALY-DE 1 31760147 31760147 single base substitution C G upstream_gene_variant MELA-AU 1 31727758 31727758 single base substitution G A downstream_gene_variant MELA-AU 1 31727759 31727759 single base substitution G A downstream_gene_variant MELA-AU 1 31728650 31728650 single base substitution A T downstream_gene_variant MELA-AU 1 31728691 31728691 single base substitution G A downstream_gene_variant MELA-AU 1 31728728 31728728 single base substitution A G downstream_gene_variant MELA-AU 1 31728829 31728829 single base substitution G A downstream_gene_variant MELA-AU 1 31729111 31729111 single base substitution G A downstream_gene_variant MELA-AU 1 31729542 31729542 single base substitution G A downstream_gene_variant MELA-AU 1 31729548 31729548 single base substitution C T downstream_gene_variant MELA-AU 1 31729657 31729657 single base substitution G A downstream_gene_variant MELA-AU 1 31729746 31729746 single base substitution G A downstream_gene_variant MELA-AU 1 31730169 31730169 single base substitution G A downstream_gene_variant MELA-AU 1 31730487 31730487 single base substitution G A downstream_gene_variant MELA-AU 1 31731078 31731078 single base substitution G A downstream_gene_variant MELA-AU 1 31731131 31731131 single base substitution G A downstream_gene_variant MELA-AU 1 31732146 31732146 single base substitution G A downstream_gene_variant MELA-AU 1 31732189 31732189 single base substitution C T downstream_gene_variant MELA-AU 1 31732385 31732385 deletion of <=200bp G - downstream_gene_variant MELA-AU 1 31732760 31732760 single base substitution G A 3_prime_UTR_variant MELA-AU 1 31732760 31732760 single base substitution G A downstream_gene_variant MELA-AU 1 31732760 31732760 single base substitution G A exon_variant MELA-AU 1 31733591 31733591 single base substitution C T intron_variant MELA-AU 1 31733763 31733763 single base substitution G A intron_variant MELA-AU 1 31733979 31733979 single base substitution G A intron_variant MELA-AU 1 31733979 31733979 single base substitution G A synonymous_variant L357L 1069C>T MELA-AU 1 31733979 31733979 single base substitution G A upstream_gene_variant MELA-AU 1 31734525 31734525 single base substitution G A exon_variant MELA-AU 1 31734525 31734525 single base substitution G A intron_variant MELA-AU 1 31734525 31734525 single base substitution G A upstream_gene_variant MELA-AU 1 31734737 31734737 single base substitution G A intron_variant MELA-AU 1 31734737 31734737 single base substitution G A upstream_gene_variant MELA-AU 1 31734750 31734750 single base substitution G A intron_variant MELA-AU 1 31734750 31734750 single base substitution G A upstream_gene_variant MELA-AU 1 31735185 31735185 single base substitution G A intron_variant MELA-AU 1 31735185 31735185 single base substitution G A upstream_gene_variant MELA-AU 1 31735339 31735339 single base substitution G A intron_variant MELA-AU 1 31735339 31735339 single base substitution G A upstream_gene_variant MELA-AU 1 31735355 31735355 single base substitution G A intron_variant MELA-AU 1 31735355 31735355 single base substitution G A upstream_gene_variant MELA-AU 1 31735546 31735546 single base substitution G A intron_variant MELA-AU 1 31735546 31735546 single base substitution G A upstream_gene_variant MELA-AU 1 31737144 31737144 single base substitution G A intron_variant MELA-AU 1 31737144 31737144 single base substitution G A upstream_gene_variant MELA-AU 1 31737881 31737881 single base substitution G A intron_variant MELA-AU 1 31737881 31737881 single base substitution G A upstream_gene_variant MELA-AU 1 31737948 31737948 single base substitution C T intron_variant MELA-AU 1 31737948 31737948 single base substitution C T upstream_gene_variant MELA-AU 1 31738073 31738073 single base substitution G A intron_variant MELA-AU 1 31738073 31738073 single base substitution G A upstream_gene_variant MELA-AU 1 31738288 31738288 single base substitution G A intron_variant MELA-AU 1 31738288 31738288 single base substitution G A upstream_gene_variant MELA-AU 1 31738369 31738369 single base substitution A G intron_variant MELA-AU 1 31738369 31738369 single base substitution A G upstream_gene_variant MELA-AU 1 31739253 31739253 single base substitution G A downstream_gene_variant MELA-AU 1 31739253 31739253 single base substitution G A intron_variant MELA-AU 1 31739253 31739253 single base substitution G A upstream_gene_variant MELA-AU 1 31739520 31739520 single base substitution T A downstream_gene_variant MELA-AU 1 31739520 31739520 single base substitution T A intron_variant MELA-AU 1 31739520 31739520 single base substitution T A upstream_gene_variant MELA-AU 1 31740065 31740065 single base substitution G A downstream_gene_variant MELA-AU 1 31740065 31740065 single base substitution G A intron_variant MELA-AU 1 31740123 31740123 single base substitution G A downstream_gene_variant MELA-AU 1 31740123 31740123 single base substitution G A intron_variant MELA-AU 1 31740178 31740178 single base substitution A G downstream_gene_variant MELA-AU 1 31740178 31740178 single base substitution A G intron_variant MELA-AU 1 31740284 31740284 single base substitution G A downstream_gene_variant MELA-AU 1 31740284 31740284 single base substitution G A intron_variant MELA-AU 1 31740879 31740879 single base substitution A C downstream_gene_variant MELA-AU 1 31740879 31740879 single base substitution A C intron_variant MELA-AU 1 31743435 31743435 single base substitution G A downstream_gene_variant MELA-AU 1 31743435 31743435 single base substitution G A intron_variant MELA-AU 1 31743435 31743435 single base substitution G A upstream_gene_variant MELA-AU 1 31743696 31743696 single base substitution A T downstream_gene_variant MELA-AU 1 31743696 31743696 single base substitution A T intron_variant MELA-AU 1 31743696 31743696 single base substitution A T upstream_gene_variant MELA-AU 1 31743851 31743852 multiple base substitution (>=2bp and <=200bp) CA AG downstream_gene_variant MELA-AU 1 31743851 31743852 multiple base substitution (>=2bp and <=200bp) CA AG intron_variant MELA-AU 1 31743851 31743852 multiple base substitution (>=2bp and <=200bp) CA AG upstream_gene_variant MELA-AU 1 31744204 31744204 single base substitution G A exon_variant MELA-AU 1 31744204 31744204 single base substitution G A intron_variant MELA-AU 1 31744204 31744204 single base substitution G A upstream_gene_variant MELA-AU 1 31744479 31744479 single base substitution G A intron_variant MELA-AU 1 31744479 31744479 single base substitution G A upstream_gene_variant MELA-AU 1 31744589 31744589 single base substitution C T intron_variant MELA-AU 1 31744589 31744589 single base substitution C T upstream_gene_variant MELA-AU 1 31744996 31744996 single base substitution C T intron_variant MELA-AU 1 31744996 31744996 single base substitution C T upstream_gene_variant MELA-AU 1 31745437 31745437 single base substitution G A intron_variant MELA-AU 1 31745437 31745437 single base substitution G A upstream_gene_variant MELA-AU 1 31746087 31746087 single base substitution G A intron_variant MELA-AU 1 31746087 31746087 single base substitution G A upstream_gene_variant MELA-AU 1 31746633 31746633 single base substitution C T intron_variant MELA-AU 1 31746633 31746633 single base substitution C T upstream_gene_variant MELA-AU 1 31746749 31746750 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 31746749 31746750 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 31748559 31748559 single base substitution G A intron_variant MELA-AU 1 31748560 31748560 single base substitution G A intron_variant MELA-AU 1 31749242 31749242 single base substitution G A intron_variant MELA-AU 1 31749306 31749306 single base substitution G A intron_variant MELA-AU 1 31749825 31749825 single base substitution G A intron_variant MELA-AU 1 31751510 31751510 single base substitution G A intron_variant MELA-AU 1 31751600 31751600 single base substitution G A intron_variant MELA-AU 1 31751739 31751739 single base substitution G A intron_variant MELA-AU 1 31751880 31751880 single base substitution A T intron_variant MELA-AU 1 31752602 31752602 single base substitution G A intron_variant MELA-AU 1 31752640 31752640 single base substitution G A intron_variant MELA-AU 1 31753048 31753048 single base substitution G A intron_variant MELA-AU 1 31753291 31753291 single base substitution G A intron_variant MELA-AU 1 31754097 31754097 single base substitution C A intron_variant MELA-AU 1 31754158 31754158 single base substitution G A intron_variant MELA-AU 1 31754617 31754617 single base substitution G A exon_variant MELA-AU 1 31754617 31754617 single base substitution G A intron_variant MELA-AU 1 31755033 31755034 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 1 31755033 31755034 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 31755175 31755175 single base substitution G A exon_variant MELA-AU 1 31755175 31755175 single base substitution G A intron_variant MELA-AU 1 31755448 31755448 single base substitution A T intron_variant MELA-AU 1 31755448 31755448 single base substitution A T upstream_gene_variant MELA-AU 1 31755471 31755471 single base substitution A T intron_variant MELA-AU 1 31755471 31755471 single base substitution A T upstream_gene_variant MELA-AU 1 31756082 31756082 single base substitution A G intron_variant MELA-AU 1 31756082 31756082 single base substitution A G upstream_gene_variant MELA-AU 1 31756274 31756274 single base substitution A C intron_variant MELA-AU 1 31756274 31756274 single base substitution A C upstream_gene_variant MELA-AU 1 31756767 31756774 deletion of <=200bp TAAAACTA - intron_variant MELA-AU 1 31756767 31756774 deletion of <=200bp TAAAACTA - upstream_gene_variant MELA-AU 1 31756839 31756839 single base substitution G A intron_variant MELA-AU 1 31756839 31756839 single base substitution G A upstream_gene_variant MELA-AU 1 31757028 31757028 single base substitution G A intron_variant MELA-AU 1 31757028 31757028 single base substitution G A upstream_gene_variant MELA-AU 1 31757853 31757853 single base substitution C T intron_variant MELA-AU 1 31757853 31757853 single base substitution C T upstream_gene_variant MELA-AU 1 31757955 31757955 single base substitution C T intron_variant MELA-AU 1 31757955 31757955 single base substitution C T upstream_gene_variant MELA-AU 1 31758125 31758125 single base substitution C T intron_variant MELA-AU 1 31758125 31758125 single base substitution C T upstream_gene_variant MELA-AU 1 31758213 31758213 single base substitution G A intron_variant MELA-AU 1 31758213 31758213 single base substitution G A upstream_gene_variant MELA-AU 1 31759861 31759861 single base substitution G A intron_variant MELA-AU 1 31759861 31759861 single base substitution G A upstream_gene_variant MELA-AU 1 31760937 31760937 single base substitution G A downstream_gene_variant MELA-AU 1 31760937 31760937 single base substitution G A intron_variant MELA-AU 1 31761068 31761068 single base substitution G A downstream_gene_variant MELA-AU 1 31761068 31761068 single base substitution G A intron_variant MELA-AU 1 31761394 31761394 single base substitution G A downstream_gene_variant MELA-AU 1 31761394 31761394 single base substitution G A intron_variant MELA-AU 1 31761795 31761795 single base substitution G A downstream_gene_variant MELA-AU 1 31761795 31761795 single base substitution G A intron_variant MELA-AU 1 31761848 31761848 single base substitution G A downstream_gene_variant MELA-AU 1 31761848 31761848 single base substitution G A intron_variant MELA-AU 1 31761924 31761924 single base substitution G A downstream_gene_variant MELA-AU 1 31761924 31761924 single base substitution G A intron_variant MELA-AU 1 31762403 31762403 single base substitution G A downstream_gene_variant MELA-AU 1 31762403 31762403 single base substitution G A intron_variant MELA-AU 1 31762403 31762403 single base substitution G A upstream_gene_variant MELA-AU 1 31763651 31763652 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 31763651 31763652 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 31763651 31763652 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 31763704 31763704 single base substitution G A downstream_gene_variant MELA-AU 1 31763704 31763704 single base substitution G A intron_variant MELA-AU 1 31763704 31763704 single base substitution G A upstream_gene_variant MELA-AU 1 31764123 31764123 single base substitution G A downstream_gene_variant MELA-AU 1 31764123 31764123 single base substitution G A intron_variant MELA-AU 1 31764123 31764123 single base substitution G A upstream_gene_variant MELA-AU 1 31764224 31764224 single base substitution G A downstream_gene_variant MELA-AU 1 31764224 31764224 single base substitution G A intron_variant MELA-AU 1 31764224 31764224 single base substitution G A upstream_gene_variant MELA-AU 1 31766316 31766316 single base substitution T A intron_variant MELA-AU 1 31766316 31766316 single base substitution T A upstream_gene_variant MELA-AU 1 31767686 31767686 single base substitution G A intron_variant MELA-AU 1 31767855 31767855 single base substitution G A intron_variant MELA-AU 1 31768848 31768848 single base substitution G A intron_variant MELA-AU 1 31768860 31768860 single base substitution G A intron_variant MELA-AU 1 31768944 31768944 single base substitution A G intron_variant MELA-AU 1 31769677 31769677 single base substitution C T upstream_gene_variant MELA-AU 1 31769678 31769678 single base substitution C T upstream_gene_variant MELA-AU 1 31769684 31769684 single base substitution C T upstream_gene_variant MELA-AU 1 31769693 31769693 single base substitution C T upstream_gene_variant MELA-AU 1 31769700 31769700 single base substitution G A upstream_gene_variant MELA-AU 1 31769719 31769719 single base substitution C T upstream_gene_variant MELA-AU 1 31769727 31769727 single base substitution C T upstream_gene_variant MELA-AU 1 31769740 31769740 single base substitution C T upstream_gene_variant MELA-AU 1 31769744 31769744 single base substitution G A upstream_gene_variant MELA-AU 1 31769745 31769745 single base substitution G A upstream_gene_variant MELA-AU 1 31769770 31769770 single base substitution C T upstream_gene_variant MELA-AU 1 31769786 31769786 single base substitution G A upstream_gene_variant MELA-AU 1 31769788 31769788 single base substitution G A upstream_gene_variant MELA-AU 1 31769792 31769792 single base substitution G A upstream_gene_variant MELA-AU 1 31770509 31770509 single base substitution T C upstream_gene_variant MELA-AU 1 31770532 31770532 single base substitution G A upstream_gene_variant MELA-AU 1 31770960 31770960 single base substitution G A upstream_gene_variant MELA-AU 1 31772030 31772030 single base substitution G A upstream_gene_variant MELA-AU 1 31773464 31773464 single base substitution C T upstream_gene_variant MELA-AU 1 31773665 31773665 single base substitution C T upstream_gene_variant MELA-AU 1 31774618 31774618 single base substitution C T upstream_gene_variant MELA-AU 1 31774634 31774634 single base substitution C T upstream_gene_variant ORCA-IN 1 31754662 31754662 single base substitution G A exon_variant ORCA-IN 1 31754662 31754662 single base substitution G A intron_variant ORCA-IN 1 31755405 31755405 single base substitution G T intron_variant ORCA-IN 1 31755405 31755405 single base substitution G T upstream_gene_variant ORCA-IN 1 31766074 31766074 single base substitution C T exon_variant ORCA-IN 1 31766074 31766074 single base substitution C T missense_variant R88Q 263G>A ORCA-IN 1 31766074 31766074 single base substitution C T upstream_gene_variant OV-AU 1 31733441 31733441 single base substitution G C intron_variant OV-AU 1 31739099 31739099 single base substitution C G downstream_gene_variant OV-AU 1 31739099 31739099 single base substitution C G intron_variant OV-AU 1 31739099 31739099 single base substitution C G upstream_gene_variant OV-AU 1 31750628 31750628 single base substitution A C intron_variant OV-AU 1 31758413 31758413 single base substitution C T intron_variant OV-AU 1 31758413 31758413 single base substitution C T upstream_gene_variant OV-AU 1 31758673 31758673 single base substitution G A intron_variant OV-AU 1 31758673 31758673 single base substitution G A upstream_gene_variant OV-AU 1 31759668 31759668 single base substitution C G intron_variant OV-AU 1 31759668 31759668 single base substitution C G upstream_gene_variant OV-AU 1 31765399 31765399 single base substitution C T downstream_gene_variant OV-AU 1 31765399 31765399 single base substitution C T intron_variant OV-AU 1 31765399 31765399 single base substitution C T upstream_gene_variant OV-AU 1 31769927 31769927 single base substitution G C upstream_gene_variant OV-AU 1 31770427 31770427 single base substitution C A upstream_gene_variant PACA-AU 1 31731203 31731203 single base substitution C T downstream_gene_variant PACA-AU 1 31735054 31735054 single base substitution G A intron_variant PACA-AU 1 31735054 31735054 single base substitution G A upstream_gene_variant PACA-AU 1 31736011 31736011 single base substitution A T intron_variant PACA-AU 1 31736011 31736011 single base substitution A T upstream_gene_variant PACA-AU 1 31749582 31749582 single base substitution G A intron_variant PACA-AU 1 31751996 31751996 single base substitution T C intron_variant PACA-AU 1 31752572 31752572 single base substitution C T intron_variant PACA-AU 1 31753789 31753789 single base substitution T C intron_variant PACA-AU 1 31763703 31763703 single base substitution C T downstream_gene_variant PACA-AU 1 31763703 31763703 single base substitution C T intron_variant PACA-AU 1 31763703 31763703 single base substitution C T upstream_gene_variant PACA-AU 1 31764980 31764980 single base substitution C T downstream_gene_variant PACA-AU 1 31764980 31764980 single base substitution C T intron_variant PACA-AU 1 31764980 31764980 single base substitution C T upstream_gene_variant PACA-AU 1 31767296 31767296 insertion of <=200bp - TATT intron_variant PACA-CA 1 31728173 31728173 single base substitution G A downstream_gene_variant PACA-CA 1 31729802 31729802 single base substitution A T downstream_gene_variant PACA-CA 1 31729944 31729944 single base substitution C T downstream_gene_variant PACA-CA 1 31729945 31729945 single base substitution C A downstream_gene_variant PACA-CA 1 31732717 31732718 deletion of <=200bp TA - 3_prime_UTR_variant PACA-CA 1 31732717 31732718 deletion of <=200bp TA - downstream_gene_variant PACA-CA 1 31732717 31732718 deletion of <=200bp TA - exon_variant PACA-CA 1 31736065 31736065 single base substitution A G intron_variant PACA-CA 1 31736065 31736065 single base substitution A G upstream_gene_variant PACA-CA 1 31746578 31746578 single base substitution T C intron_variant PACA-CA 1 31746578 31746578 single base substitution T C upstream_gene_variant PACA-CA 1 31754003 31754003 single base substitution T A intron_variant PACA-CA 1 31755464 31755464 single base substitution T A intron_variant PACA-CA 1 31755464 31755464 single base substitution T A upstream_gene_variant PACA-CA 1 31768260 31768260 single base substitution G C intron_variant PACA-CA 1 31769895 31769895 single base substitution C T upstream_gene_variant PACA-CA 1 31774327 31774334 deletion of <=200bp TAAAATTT - upstream_gene_variant PAEN-AU 1 31732727 31732727 single base substitution A T 3_prime_UTR_variant PAEN-AU 1 31732727 31732727 single base substitution A T downstream_gene_variant PAEN-AU 1 31732727 31732727 single base substitution A T exon_variant PAEN-AU 1 31744222 31744222 single base substitution T C exon_variant PAEN-AU 1 31744222 31744222 single base substitution T C splice_region_variant PAEN-AU 1 31744222 31744222 single base substitution T C upstream_gene_variant PAEN-AU 1 31744688 31744688 single base substitution G T intron_variant PAEN-AU 1 31744688 31744688 single base substitution G T upstream_gene_variant PAEN-AU 1 31751241 31751241 single base substitution A G intron_variant PAEN-AU 1 31764714 31764714 insertion of <=200bp - AAG downstream_gene_variant PAEN-AU 1 31764714 31764714 insertion of <=200bp - AAG intron_variant PAEN-AU 1 31764714 31764714 insertion of <=200bp - AAG upstream_gene_variant PAEN-IT 1 31744618 31744618 single base substitution G C intron_variant PAEN-IT 1 31744618 31744618 single base substitution G C upstream_gene_variant PAEN-IT 1 31759622 31759622 single base substitution G T intron_variant PAEN-IT 1 31759622 31759622 single base substitution G T upstream_gene_variant PBCA-DE 1 31728019 31728019 single base substitution C A downstream_gene_variant PBCA-DE 1 31741466 31741466 deletion of <=200bp A - downstream_gene_variant PBCA-DE 1 31741466 31741466 deletion of <=200bp A - intron_variant PBCA-DE 1 31748697 31748697 single base substitution C A intron_variant PBCA-DE 1 31757696 31757696 deletion of <=200bp A - intron_variant PBCA-DE 1 31757696 31757696 deletion of <=200bp A - upstream_gene_variant PBCA-DE 1 31764136 31764136 insertion of <=200bp - AAAAAAAAAA downstream_gene_variant PBCA-DE 1 31764136 31764136 insertion of <=200bp - AAAAAAAAAA intron_variant PBCA-DE 1 31764136 31764136 insertion of <=200bp - AAAAAAAAAA upstream_gene_variant PBCA-DE 1 31769896 31769896 single base substitution G C upstream_gene_variant PRAD-CA 1 31742936 31742936 single base substitution G C downstream_gene_variant PRAD-CA 1 31742936 31742936 single base substitution G C intron_variant PRAD-CA 1 31742936 31742936 single base substitution G C upstream_gene_variant PRAD-CA 1 31756333 31756333 single base substitution C A intron_variant PRAD-CA 1 31756333 31756333 single base substitution C A upstream_gene_variant PRAD-CA 1 31758743 31758743 single base substitution T C intron_variant PRAD-CA 1 31758743 31758743 single base substitution T C upstream_gene_variant PRAD-UK 1 31735007 31735007 single base substitution A C intron_variant PRAD-UK 1 31735007 31735007 single base substitution A C upstream_gene_variant PRAD-UK 1 31760900 31760900 single base substitution C T downstream_gene_variant PRAD-UK 1 31760900 31760900 single base substitution C T intron_variant PRAD-UK 1 31773415 31773415 single base substitution G C upstream_gene_variant RECA-EU 1 31740968 31740968 single base substitution T A downstream_gene_variant RECA-EU 1 31740968 31740968 single base substitution T A intron_variant RECA-EU 1 31745741 31745741 single base substitution T C intron_variant RECA-EU 1 31745741 31745741 single base substitution T C upstream_gene_variant RECA-EU 1 31749244 31749244 single base substitution A C intron_variant RECA-EU 1 31750019 31750019 single base substitution C A intron_variant RECA-EU 1 31751013 31751013 single base substitution T A intron_variant RECA-EU 1 31754185 31754185 single base substitution G T intron_variant RECA-EU 1 31763767 31763767 single base substitution A T downstream_gene_variant RECA-EU 1 31763767 31763767 single base substitution A T intron_variant RECA-EU 1 31763767 31763767 single base substitution A T upstream_gene_variant RECA-EU 1 31765164 31765164 single base substitution G A downstream_gene_variant RECA-EU 1 31765164 31765164 single base substitution G A intron_variant RECA-EU 1 31765164 31765164 single base substitution G A upstream_gene_variant RECA-EU 1 31766475 31766475 single base substitution C A intron_variant RECA-EU 1 31766475 31766475 single base substitution C A upstream_gene_variant SKCA-BR 1 31728423 31728423 single base substitution G A downstream_gene_variant SKCA-BR 1 31733353 31733353 single base substitution G A intron_variant SKCA-BR 1 31733534 31733534 single base substitution C A intron_variant SKCA-BR 1 31733616 31733616 single base substitution G A intron_variant SKCA-BR 1 31734033 31734034 deletion of <=200bp CA - intron_variant SKCA-BR 1 31734033 31734034 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 1 31735389 31735394 deletion of <=200bp AAAGAG - intron_variant SKCA-BR 1 31735389 31735394 deletion of <=200bp AAAGAG - upstream_gene_variant SKCA-BR 1 31735391 31735394 deletion of <=200bp AGAG - intron_variant SKCA-BR 1 31735391 31735394 deletion of <=200bp AGAG - upstream_gene_variant SKCA-BR 1 31735394 31735394 single base substitution G A intron_variant SKCA-BR 1 31735394 31735394 single base substitution G A upstream_gene_variant SKCA-BR 1 31736188 31736189 deletion of <=200bp AT - intron_variant SKCA-BR 1 31736188 31736189 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 1 31742993 31742993 single base substitution A C downstream_gene_variant SKCA-BR 1 31742993 31742993 single base substitution A C intron_variant SKCA-BR 1 31742993 31742993 single base substitution A C upstream_gene_variant SKCA-BR 1 31743436 31743436 single base substitution G A downstream_gene_variant SKCA-BR 1 31743436 31743436 single base substitution G A intron_variant SKCA-BR 1 31743436 31743436 single base substitution G A upstream_gene_variant SKCA-BR 1 31747305 31747305 single base substitution G A intron_variant SKCA-BR 1 31747305 31747305 single base substitution G A upstream_gene_variant SKCA-BR 1 31748177 31748177 single base substitution G A intron_variant SKCA-BR 1 31749092 31749092 single base substitution C G intron_variant SKCA-BR 1 31749736 31749736 single base substitution T C intron_variant SKCA-BR 1 31749741 31749741 single base substitution C T intron_variant SKCA-BR 1 31755405 31755417 deletion of <=200bp GCTATCTATCTAT - intron_variant SKCA-BR 1 31755405 31755417 deletion of <=200bp GCTATCTATCTAT - upstream_gene_variant SKCA-BR 1 31761514 31761514 insertion of <=200bp - CTTTCT downstream_gene_variant SKCA-BR 1 31761514 31761514 insertion of <=200bp - CTTTCT intron_variant SKCA-BR 1 31763007 31763007 single base substitution C A downstream_gene_variant SKCA-BR 1 31763007 31763007 single base substitution C A intron_variant SKCA-BR 1 31763007 31763007 single base substitution C A upstream_gene_variant SKCA-BR 1 31769744 31769744 single base substitution G A upstream_gene_variant SKCA-BR 1 31769753 31769753 single base substitution C T upstream_gene_variant SKCA-BR 1 31769811 31769811 single base substitution G A upstream_gene_variant SKCA-BR 1 31772899 31772899 single base substitution C T upstream_gene_variant SKCA-BR 1 31774503 31774503 single base substitution A G upstream_gene_variant SKCM-US 1 31742085 31742085 single base substitution G A downstream_gene_variant SKCM-US 1 31742085 31742085 single base substitution G A missense_variant R260C 778C>T SKCM-US 1 31742085 31742085 single base substitution G A missense_variant R30C 88C>T SKCM-US 1 31742085 31742085 single base substitution G A splice_region_variant SKCM-US 1 31744311 31744311 single base substitution G A exon_variant SKCM-US 1 31744311 31744311 single base substitution G A synonymous_variant T230T 690C>T SKCM-US 1 31744311 31744311 single base substitution G A upstream_gene_variant SKCM-US 1 31754332 31754332 single base substitution G A exon_variant SKCM-US 1 31754332 31754332 single base substitution G A synonymous_variant I181I 543C>T SKCM-US 1 31762188 31762188 single base substitution C T downstream_gene_variant SKCM-US 1 31762188 31762188 single base substitution C T exon_variant SKCM-US 1 31762188 31762188 single base substitution C T synonymous_variant K148K 444G>A SKCM-US 1 31769575 31769575 single base substitution C T exon_variant SKCM-US 1 31769575 31769575 single base substitution C T synonymous_variant K8K 24G>A STAD-US 1 31764770 31764770 single base substitution T C downstream_gene_variant STAD-US 1 31764770 31764770 single base substitution T C missense_variant T119A 355A>G STAD-US 1 31764770 31764770 single base substitution T C upstream_gene_variant STAD-US 1 31769597 31769597 single base substitution A G exon_variant STAD-US 1 31769597 31769597 single base substitution A G start_lost M1T 2T>C UCEC-US 1 31754246 31754246 single base substitution G T exon_variant UCEC-US 1 31754246 31754246 single base substitution G T missense_variant S210Y 629C>A UCEC-US 1 31754247 31754247 single base substitution A C exon_variant UCEC-US 1 31754247 31754247 single base substitution A C missense_variant S210A 628T>G UCEC-US 1 31762266 31762266 single base substitution A G downstream_gene_variant UCEC-US 1 31762266 31762266 single base substitution A G exon_variant UCEC-US 1 31762266 31762266 single base substitution A G splice_region_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HCC059T COSM5809768 c.880T>C p.S294P Substitution - Missense 1:31267911-31267911 - TCGA-BH-A0HQ-01 COSM426063 c.51C>T p.V17V Substitution - coding silent 1:31296701-31296701 - TCGA-CA-6717-01 COSM1341719 c.152G>T p.R51I Substitution - Missense 1:31293338-31293338 - Pat_76_A COSM5846340 c.80G>A p.G27E Substitution - Missense 1:31296672-31296672 - TCGA-DA-A1HY-06 COSM3487962 c.543C>T p.I181I Substitution - coding silent 1:31281485-31281485 - STC297 COSM5053384 c.794G>A p.R265Q Substitution - Missense 1:31269222-31269222 - 587344 COSM1227008 c.46C>T p.P16S Substitution - Missense 1:31296706-31296706 - TCGA-EE-A3JI-06 COSM3487963 c.444G>A p.K148K Substitution - coding silent 1:31289341-31289341 - SC_9107 COSM5569502 c.689C>G p.T230S Substitution - Missense 1:31271465-31271465 - LUAD-S01357 COSM386039 c.449A>G p.H150R Substitution - Missense 1:31289336-31289336 - Pat_06_A COSM5846338 c.145C>T p.P49S Substitution - Missense 1:31293345-31293345 - Pat_37_B COSM5846330 c.878G>T p.W293L Substitution - Missense 1:31267913-31267913 - TCGA-AX-A0J0-01 COSM908142 c.629C>A p.S210Y Substitution - Missense 1:31281399-31281399 - LUAD-F00365 COSM340568 c.992A>G p.N331S Substitution - Missense 1:31261561-31261561 - TCGA-BG-A0M4-01 COSM908141 c.973G>A p.G325S Substitution - Missense 1:31261580-31261580 - TCGA-D3-A5GN-06 COSM3487964 c.24G>A p.K8K Substitution - coding silent 1:31296728-31296728 - B96 COSM1748346 c.26G>A p.G9D Substitution - Missense 1:31296726-31296726 - B96-Tumor COSM1748346 c.26G>A p.G9D Substitution - Missense 1:31296726-31296726 - 1N34-VS-1T34 COSM4974644 c.667C>T p.R223C Substitution - Missense 1:31271487-31271487 - TCGA-A1-A0SI-01 COSM3804923 c.125G>A p.G42E Substitution - Missense 1:31296627-31296627 - TCGA-CZ-4865-01 COSM3360834 c.263G>A p.R88Q Substitution - Missense 1:31293227-31293227 - HN_62995 COSM129338 c.605A>T p.N202I Substitution - Missense 1:31281423-31281423 - PT33 COSM5908021 c.241T>G p.L81V Substitution - Missense 1:31293249-31293249 - CSCC-20-T COSM4533921 c.202G>A p.E68K Substitution - Missense 1:31293288-31293288 - STC232 COSM5053387 c.758_759insA p.N253fs*33 Insertion - Frameshift 1:31271395-31271396 - Pat_45_A COSM5846333 c.832_833delCA p.Q278fs*7 Deletion - Frameshift 1:31269183-31269184 - S02348 COSM2077101 c.287A>G p.Y96C Substitution - Missense 1:31291991-31291991 - LUAD_E00565 COSM388832 c.380C>A p.A127E Substitution - Missense 1:31289405-31289405 - TCGA-BR-A4J8-01 COSM4031348 c.355A>G p.T119A Substitution - Missense 1:31291923-31291923 - SJHGG093_A COSM4971678 c.380C>G p.A127G Substitution - Missense 1:31289405-31289405 - TCGA-61-1915-01 COSM1320214 c.336G>A p.V112V Substitution - coding silent 1:31291942-31291942 - TCGA-B5-A11E-01 COSM908143 c.628T>G p.S210A Substitution - Missense 1:31281400-31281400 - TCGA-BR-4361-01 COSM4031350 c.2T>C p.M1T Substitution - Missense 1:31296750-31296750 - TCGA-EE-A2GI-06 COSM3487959 c.778C>T p.R260C Substitution - Missense 1:31269238-31269238 - TCGA-D1-A16X-01 COSM908144 c.366T>C p.S122S Substitution - coding silent 1:31289419-31289419 - LUAD-RT-S01813 COSM382961 c.853G>C p.E285Q Substitution - Missense 1:31269163-31269163 - sysucc-311T COSM5478457 c.830T>G p.F277C Substitution - Missense 1:31269186-31269186 - T3118 COSM4728735 c.841G>A p.V281M Substitution - Missense 1:31269175-31269175 - TCGA-HT-7688-01 COSM3966518 c.707A>G p.D236G Substitution - Missense 1:31271447-31271447 - OSCC-GB_01260111 COSM3360834 c.263G>A p.R88Q Substitution - Missense 1:31293227-31293227 - CSCC-16-T COSM4552099 c.549G>A p.K183K Substitution - coding silent 1:31281479-31281479 - Pat_41_B COSM5846336 c.236C>T p.S79F Substitution - Missense 1:31293254-31293254 - 8069314 COSM4135609 c.775+4A>G p.? Unknown 1:31271375-31271375 - TCGA-ER-A19G-06 COSM3487961 c.690C>T p.T230T Substitution - coding silent 1:31271464-31271464 - 37M COSM5584103 c.63G>A p.R21R Substitution - coding silent 1:31296689-31296689 - TCGA-CA-6718-01 COSM1341718 c.517G>A p.D173N Substitution - Missense 1:31289268-31289268 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.33962 1p35.2 607797

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.776-36T>G 1 31742123 DLBCL C A IntronicSNV . c.859-60G>T 1 31740839 NSCLC C A Missense p.A302S c.904G>T 1 31740734 LUAD C A Missense p.K6N c.18G>T 1 31769581 LUAD C A Missense p.Q38H c.114G>T 1 31769485 LUAD C T Missense p.R88Q c.263G>A 1 31766074 RCCC C T Synonymous p.K148K c.444G>A 1 31762188 CM G A Missense p.R260C c.778C>T 1 31742085 CM G A Synonymous p.I181I c.543C>T 1 31754332 CM G A Synonymous p.T230T c.690C>T 1 31744311 CM G A Synonymous p.V17V c.51C>T 1 31769548 BRCA G C Nonsense p.S126* c.377C>G 1 31762255 LUAD G T Synonymous p.G9G c.27C>A 1 31769572 STAD T A Missense p.N202I c.605A>T 1 31754270 HNSC T C Missense p.D236G c.707A>G 1 31744294 LGG - T IntronicInsertion . c.655-160dupA 1 31744506 CM