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 5 60224762 60224765 + Frame_Shift_Del DEL TTTA TTTA - TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr5:60224762_60224765delTTTA c.99_102delTAAA c.(97-102)aataaafs p.NK33fs BLCA 5 60186872 60186872 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 g.chr5:60186872C>T c.885G>A c.(883-885)ttG>ttA p.L295L BLCA 5 60240781 60240781 + Missense_Mutation SNP G G A TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr5:60240781G>A c.55C>T c.(55-57)Cgg>Tgg p.R19W BRCA 5 60199504 60199504 + Missense_Mutation SNP T T C TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 g.chr5:60199504T>C c.521A>G c.(520-522)aAg>aGg p.K174R CESC 5 60186718 60186718 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr5:60186718G>A c.1039C>T c.(1039-1041)Cag>Tag p.Q347* CESC 5 60186820 60186820 + Missense_Mutation SNP C C T TCGA-BI-A20A-01A-11D-A14W-08 TCGA-BI-A20A-10A-01D-A14W-08 g.chr5:60186820C>T c.937G>A c.(937-939)Ggt>Agt p.G313S CESC 5 60195471 60195471 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 g.chr5:60195471G>A c.701C>T c.(700-702)tCa>tTa p.S234L CESC 5 60240761 60240761 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr5:60240761C>T c.75G>A c.(73-75)cgG>cgA p.R25R COAD 5 60214197 60214197 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr5:60214197G>A c.294C>T c.(292-294)caC>caT p.H98H COAD 5 60224713 60224713 + Missense_Mutation SNP T T C TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr5:60224713T>C c.151A>G c.(151-153)Att>Gtt p.I51V COADREAD 5 60200628 60200628 + Silent SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:60200628A>G c.472T>C c.(472-474)Ttg>Ctg p.L158L COADREAD 5 60214197 60214197 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr5:60214197G>A c.294C>T c.(292-294)caC>caT p.H98H COADREAD 5 60224713 60224713 + Missense_Mutation SNP T T C TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr5:60224713T>C c.151A>G c.(151-153)Att>Gtt p.I51V ESCA 5 60183321 60183321 + Nonsense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 g.chr5:60183321G>T c.1068C>A c.(1066-1068)tgC>tgA p.C356* GBMLGG 5 60170485 60170485 + Missense_Mutation SNP G G A TCGA-DU-A7TA-01A-11D-A33T-08 TCGA-DU-A7TA-10A-01D-A33W-08 g.chr5:60170485G>A c.1148C>T c.(1147-1149)cCg>cTg p.P383L HNSC 5 60183269 60183269 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 g.chr5:60183269C>G c.1120G>C c.(1120-1122)Gag>Cag p.E374Q HNSC 5 60199489 60199489 + Missense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 g.chr5:60199489G>A c.536C>T c.(535-537)tCt>tTt p.S179F KIPAN 5 60183307 60183307 + Nonsense_Mutation SNP C C T TCGA-BP-4330-01A-01D-1366-10 TCGA-BP-4330-11A-01D-1366-10 g.chr5:60183307C>T c.1082G>A c.(1081-1083)tGg>tAg p.W361* KIRC 5 60183307 60183307 + Nonsense_Mutation SNP C C T TCGA-BP-4330-01A-01D-1366-10 TCGA-BP-4330-11A-01D-1366-10 g.chr5:60183307C>T c.1082G>A c.(1081-1083)tGg>tAg p.W361* LGG 5 60170485 60170485 + Missense_Mutation SNP G G A TCGA-DU-A7TA-01A-11D-A33T-08 TCGA-DU-A7TA-10A-01D-A33W-08 g.chr5:60170485G>A c.1148C>T c.(1147-1149)cCg>cTg p.P383L LIHC 5 60200656 60200656 + Silent SNP A A G TCGA-DD-A1EB-01A-11D-A12Z-10 TCGA-DD-A1EB-10A-01D-A12Z-10 g.chr5:60200656A>G c.444T>C c.(442-444)caT>caC p.H148H LIHC 5 60200668 60200668 + Silent SNP A A C TCGA-2Y-A9GU-01A-11D-A382-10 TCGA-2Y-A9GU-10A-01D-A385-10 g.chr5:60200668A>C c.432T>G c.(430-432)gtT>gtG p.V144V LIHC 5 60214181 60214181 + Missense_Mutation SNP T T C TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr5:60214181T>C c.310A>G c.(310-312)Act>Gct p.T104A LIHC 5 60217888 60217888 + Missense_Mutation SNP T T C TCGA-DD-A116-01A-11D-A12Z-10 TCGA-DD-A116-10A-01D-A12Z-10 g.chr5:60217888T>C c.268A>G c.(268-270)Att>Gtt p.I90V LUAD 5 60183312 60183312 + Silent SNP C C A TCGA-55-8092-01A-11D-2238-08 TCGA-55-8092-10A-01D-2238-08 g.chr5:60183312C>A c.1077G>T c.(1075-1077)ctG>ctT p.L359L LUAD 5 60195454 60195454 + Splice_Site SNP C C T TCGA-MP-A4SY-01A-21D-A24P-08 TCGA-MP-A4SY-10A-01D-A24P-08 g.chr5:60195454C>T c.718G>A c.(718-720)Gca>Aca p.A240T LUAD 5 60195463 60195463 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr5:60195463C>A c.709G>T c.(709-711)Gtt>Ttt p.V237F LUSC 5 60194165 60194165 + Missense_Mutation SNP G G T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr5:60194165G>T c.781C>A c.(781-783)Ctc>Atc p.L261I LUSC 5 60194177 60194177 + Nonsense_Mutation SNP C C A TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr5:60194177C>A c.769G>T c.(769-771)Gga>Tga p.G257* LUSC 5 60195503 60195503 + Missense_Mutation SNP C C G TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr5:60195503C>G c.669G>C c.(667-669)ttG>ttC p.L223F PCPG 5 60214156 60214156 + Missense_Mutation SNP G G A TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 g.chr5:60214156G>A c.335C>T c.(334-336)aCt>aTt p.T112I READ 5 60200628 60200628 + Silent SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:60200628A>G c.472T>C c.(472-474)Ttg>Ctg p.L158L SARC 5 60198336 60198336 + Splice_Site SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 g.chr5:60198336C>T c.e7-1 SARC 5 60199496 60199496 + Missense_Mutation SNP A A T TCGA-UE-A6QU-01A-12D-A32I-09 TCGA-UE-A6QU-10B-01D-A32I-09 g.chr5:60199496A>T c.529T>A c.(529-531)Tcc>Acc p.S177T

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 5 60186753 60186753 single base substitution T C 3_prime_UTR_variant ALL-US 5 60186753 60186753 single base substitution T C exon_variant ALL-US 5 60186753 60186753 single base substitution T C missense_variant K182R 545A>G ALL-US 5 60186753 60186753 single base substitution T C missense_variant K277R 830A>G ALL-US 5 60186753 60186753 single base substitution T C missense_variant K335R 1004A>G BLCA-CN 5 60194176 60194176 single base substitution C A 3_prime_UTR_variant BLCA-CN 5 60194176 60194176 single base substitution C A downstream_gene_variant BLCA-CN 5 60194176 60194176 single base substitution C A exon_variant BLCA-CN 5 60194176 60194176 single base substitution C A missense_variant G104V 311G>T BLCA-CN 5 60194176 60194176 single base substitution C A missense_variant G199V 596G>T BLCA-CN 5 60194176 60194176 single base substitution C A missense_variant G257V 770G>T BLCA-CN 5 60241050 60241050 single base substitution G A upstream_gene_variant BRCA-EU 5 60165770 60165770 single base substitution G A downstream_gene_variant BRCA-EU 5 60166209 60166209 single base substitution G A downstream_gene_variant BRCA-EU 5 60166478 60166478 single base substitution G C downstream_gene_variant BRCA-EU 5 60167279 60167279 single base substitution G T downstream_gene_variant BRCA-EU 5 60169122 60169122 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 60170152 60170152 single base substitution C T 3_prime_UTR_variant BRCA-EU 5 60170152 60170152 single base substitution C T exon_variant BRCA-EU 5 60170920 60170920 single base substitution C T intron_variant BRCA-EU 5 60171097 60171097 single base substitution T A intron_variant BRCA-EU 5 60172113 60172113 single base substitution A G intron_variant BRCA-EU 5 60173316 60173316 single base substitution G C intron_variant BRCA-EU 5 60173918 60173918 single base substitution A C intron_variant BRCA-EU 5 60174412 60174412 single base substitution C G intron_variant BRCA-EU 5 60175887 60175887 single base substitution G C intron_variant BRCA-EU 5 60176679 60176679 insertion of <=200bp - T intron_variant BRCA-EU 5 60177645 60177645 single base substitution G A intron_variant BRCA-EU 5 60177836 60177836 insertion of <=200bp - T intron_variant BRCA-EU 5 60179134 60179134 single base substitution G C intron_variant BRCA-EU 5 60179331 60179331 single base substitution G C intron_variant BRCA-EU 5 60180761 60180761 single base substitution A G intron_variant BRCA-EU 5 60184560 60184560 single base substitution T C intron_variant BRCA-EU 5 60185638 60185638 single base substitution C T intron_variant BRCA-EU 5 60186384 60186384 single base substitution G C intron_variant BRCA-EU 5 60187314 60187314 single base substitution C G intron_variant BRCA-EU 5 60188635 60188635 single base substitution C T exon_variant BRCA-EU 5 60188635 60188635 single base substitution C T intron_variant BRCA-EU 5 60188901 60188901 single base substitution C T exon_variant BRCA-EU 5 60188901 60188901 single base substitution C T intron_variant BRCA-EU 5 60189480 60189480 single base substitution G C downstream_gene_variant BRCA-EU 5 60189480 60189480 single base substitution G C intron_variant BRCA-EU 5 60190109 60190109 single base substitution C T downstream_gene_variant BRCA-EU 5 60190109 60190109 single base substitution C T intron_variant BRCA-EU 5 60190905 60190905 single base substitution G C downstream_gene_variant BRCA-EU 5 60190905 60190905 single base substitution G C intron_variant BRCA-EU 5 60192352 60192352 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 60192352 60192352 deletion of <=200bp A - intron_variant BRCA-EU 5 60194333 60194333 insertion of <=200bp - A downstream_gene_variant BRCA-EU 5 60194333 60194333 insertion of <=200bp - A intron_variant BRCA-EU 5 60195388 60195388 single base substitution C T downstream_gene_variant BRCA-EU 5 60195388 60195388 single base substitution C T intron_variant BRCA-EU 5 60196372 60196372 single base substitution A T downstream_gene_variant BRCA-EU 5 60196372 60196372 single base substitution A T intron_variant BRCA-EU 5 60196901 60196901 single base substitution G A downstream_gene_variant BRCA-EU 5 60196901 60196901 single base substitution G A intron_variant BRCA-EU 5 60197265 60197265 single base substitution C G downstream_gene_variant BRCA-EU 5 60197265 60197265 single base substitution C G intron_variant BRCA-EU 5 60197344 60197344 single base substitution C G downstream_gene_variant BRCA-EU 5 60197344 60197344 single base substitution C G intron_variant BRCA-EU 5 60197397 60197397 single base substitution C G downstream_gene_variant BRCA-EU 5 60197397 60197397 single base substitution C G intron_variant BRCA-EU 5 60198751 60198751 single base substitution A G downstream_gene_variant BRCA-EU 5 60198751 60198751 single base substitution A G intron_variant BRCA-EU 5 60199747 60199747 single base substitution C G intron_variant BRCA-EU 5 60199945 60199945 single base substitution C G intron_variant BRCA-EU 5 60204362 60204362 single base substitution A G intron_variant BRCA-EU 5 60204362 60204362 single base substitution A G upstream_gene_variant BRCA-EU 5 60206811 60206811 single base substitution A T intron_variant BRCA-EU 5 60206811 60206811 single base substitution A T upstream_gene_variant BRCA-EU 5 60207341 60207341 single base substitution G A intron_variant BRCA-EU 5 60207341 60207341 single base substitution G A upstream_gene_variant BRCA-EU 5 60208449 60208449 single base substitution C T intron_variant BRCA-EU 5 60209098 60209098 single base substitution C G downstream_gene_variant BRCA-EU 5 60209098 60209098 single base substitution C G intron_variant BRCA-EU 5 60209303 60209303 single base substitution C T downstream_gene_variant BRCA-EU 5 60209303 60209303 single base substitution C T intron_variant BRCA-EU 5 60209462 60209462 single base substitution C A downstream_gene_variant BRCA-EU 5 60209462 60209462 single base substitution C A intron_variant BRCA-EU 5 60209945 60209945 single base substitution A C downstream_gene_variant BRCA-EU 5 60209945 60209945 single base substitution A C intron_variant BRCA-EU 5 60210159 60210159 single base substitution C G downstream_gene_variant BRCA-EU 5 60210159 60210159 single base substitution C G intron_variant BRCA-EU 5 60210474 60210474 single base substitution G A downstream_gene_variant BRCA-EU 5 60210474 60210474 single base substitution G A intron_variant BRCA-EU 5 60210852 60210852 single base substitution G A downstream_gene_variant BRCA-EU 5 60210852 60210852 single base substitution G A intron_variant BRCA-EU 5 60212162 60212162 single base substitution C T downstream_gene_variant BRCA-EU 5 60212162 60212162 single base substitution C T intron_variant BRCA-EU 5 60212321 60212321 single base substitution C T downstream_gene_variant BRCA-EU 5 60212321 60212321 single base substitution C T intron_variant BRCA-EU 5 60214453 60214453 single base substitution C G intron_variant BRCA-EU 5 60214453 60214453 single base substitution C G upstream_gene_variant BRCA-EU 5 60215720 60215720 single base substitution C T intron_variant BRCA-EU 5 60215720 60215720 single base substitution C T upstream_gene_variant BRCA-EU 5 60215763 60215763 single base substitution C A intron_variant BRCA-EU 5 60215763 60215763 single base substitution C A upstream_gene_variant BRCA-EU 5 60215798 60215798 single base substitution A G intron_variant BRCA-EU 5 60215798 60215798 single base substitution A G upstream_gene_variant BRCA-EU 5 60215814 60215814 single base substitution C T intron_variant BRCA-EU 5 60215814 60215814 single base substitution C T upstream_gene_variant BRCA-EU 5 60215992 60215992 single base substitution C T intron_variant BRCA-EU 5 60215992 60215992 single base substitution C T upstream_gene_variant BRCA-EU 5 60216443 60216443 single base substitution C G intron_variant BRCA-EU 5 60216443 60216443 single base substitution C G upstream_gene_variant BRCA-EU 5 60216945 60216945 single base substitution G A intron_variant BRCA-EU 5 60216945 60216945 single base substitution G A upstream_gene_variant BRCA-EU 5 60218259 60218259 single base substitution G A intron_variant BRCA-EU 5 60218259 60218259 single base substitution G A upstream_gene_variant BRCA-EU 5 60218973 60218973 insertion of <=200bp - T intron_variant BRCA-EU 5 60218973 60218973 insertion of <=200bp - T upstream_gene_variant BRCA-EU 5 60219245 60219245 deletion of <=200bp T - intron_variant BRCA-EU 5 60219245 60219245 deletion of <=200bp T - upstream_gene_variant BRCA-EU 5 60220381 60220381 deletion of <=200bp C - intron_variant BRCA-EU 5 60221154 60221154 single base substitution C T intron_variant BRCA-EU 5 60222688 60222688 single base substitution T C intron_variant BRCA-EU 5 60223567 60223567 deletion of <=200bp C - intron_variant BRCA-EU 5 60226476 60226476 single base substitution C T intron_variant BRCA-EU 5 60226780 60226780 deletion of <=200bp A - intron_variant BRCA-EU 5 60227087 60227087 single base substitution C G intron_variant BRCA-EU 5 60227154 60227154 single base substitution G A intron_variant BRCA-EU 5 60227509 60227509 insertion of <=200bp - T intron_variant BRCA-EU 5 60227726 60227726 single base substitution A T intron_variant BRCA-EU 5 60228201 60228201 single base substitution T C intron_variant BRCA-EU 5 60230879 60230879 insertion of <=200bp - T intron_variant BRCA-EU 5 60231263 60231263 single base substitution G A intron_variant BRCA-EU 5 60232296 60232296 deletion of <=200bp T - intron_variant BRCA-EU 5 60233734 60233734 single base substitution A G intron_variant BRCA-EU 5 60234140 60234140 single base substitution T G intron_variant BRCA-EU 5 60235031 60235031 deletion of <=200bp A - intron_variant BRCA-EU 5 60236786 60236786 single base substitution G A intron_variant BRCA-EU 5 60236787 60236787 single base substitution A G intron_variant BRCA-EU 5 60239561 60239561 single base substitution G A intron_variant BRCA-EU 5 60240542 60240542 single base substitution C A intron_variant BRCA-EU 5 60241563 60241574 deletion of <=200bp GGAAAAGTCCAC - upstream_gene_variant BRCA-EU 5 60242319 60242319 single base substitution C T upstream_gene_variant BRCA-EU 5 60244003 60244003 single base substitution A G upstream_gene_variant BRCA-FR 5 60170152 60170152 single base substitution C T 3_prime_UTR_variant BRCA-FR 5 60170152 60170152 single base substitution C T exon_variant BRCA-FR 5 60170920 60170920 single base substitution C T intron_variant BRCA-FR 5 60175373 60175373 single base substitution G A intron_variant BRCA-FR 5 60179134 60179134 single base substitution G C intron_variant BRCA-FR 5 60179196 60179196 single base substitution G A intron_variant BRCA-FR 5 60179488 60179488 single base substitution G T intron_variant BRCA-FR 5 60190905 60190905 single base substitution G C downstream_gene_variant BRCA-FR 5 60190905 60190905 single base substitution G C intron_variant BRCA-FR 5 60197265 60197265 single base substitution C G downstream_gene_variant BRCA-FR 5 60197265 60197265 single base substitution C G intron_variant BRCA-FR 5 60197344 60197344 single base substitution C G downstream_gene_variant BRCA-FR 5 60197344 60197344 single base substitution C G intron_variant BRCA-FR 5 60197397 60197397 single base substitution C G downstream_gene_variant BRCA-FR 5 60197397 60197397 single base substitution C G intron_variant BRCA-FR 5 60209156 60209156 single base substitution G A downstream_gene_variant BRCA-FR 5 60209156 60209156 single base substitution G A intron_variant BRCA-FR 5 60209945 60209945 single base substitution A C downstream_gene_variant BRCA-FR 5 60209945 60209945 single base substitution A C intron_variant BRCA-FR 5 60212321 60212321 single base substitution C T downstream_gene_variant BRCA-FR 5 60212321 60212321 single base substitution C T intron_variant BRCA-FR 5 60215285 60215285 single base substitution G T intron_variant BRCA-FR 5 60215285 60215285 single base substitution G T upstream_gene_variant BRCA-FR 5 60221742 60221742 single base substitution C T intron_variant BRCA-FR 5 60222688 60222688 single base substitution T C intron_variant BRCA-FR 5 60234185 60234185 single base substitution T A intron_variant BRCA-FR 5 60236974 60236974 single base substitution C A intron_variant BRCA-FR 5 60241982 60241982 single base substitution C A upstream_gene_variant BRCA-FR 5 60243377 60243377 single base substitution G C upstream_gene_variant BRCA-UK 5 60173316 60173316 single base substitution G C intron_variant BRCA-UK 5 60185638 60185638 single base substitution C T intron_variant BRCA-UK 5 60203297 60203297 single base substitution A G exon_variant BRCA-UK 5 60203297 60203297 single base substitution A G intron_variant BRCA-UK 5 60214110 60214110 single base substitution C G 3_prime_UTR_variant BRCA-UK 5 60214110 60214110 single base substitution C G exon_variant BRCA-UK 5 60214110 60214110 single base substitution C G missense_variant G2R 4G>C BRCA-UK 5 60214110 60214110 single base substitution C G missense_variant W127C 381G>C BRCA-UK 5 60214110 60214110 single base substitution C G missense_variant W69C 207G>C BRCA-UK 5 60229395 60229395 single base substitution G C intron_variant BRCA-US 5 60170337 60170337 single base substitution A G 3_prime_UTR_variant BRCA-US 5 60170337 60170337 single base substitution A G exon_variant BRCA-US 5 60187968 60187968 deletion of <=200bp T - exon_variant BRCA-US 5 60187968 60187968 deletion of <=200bp T - intron_variant BRCA-US 5 60199504 60199504 single base substitution T C 3_prime_UTR_variant BRCA-US 5 60199504 60199504 single base substitution T C exon_variant BRCA-US 5 60199504 60199504 single base substitution T C intron_variant BRCA-US 5 60199504 60199504 single base substitution T C missense_variant K116R 347A>G BRCA-US 5 60199504 60199504 single base substitution T C missense_variant K174R 521A>G BRCA-US 5 60199504 60199504 single base substitution T C missense_variant K21R 62A>G BRCA-US 5 60241212 60241212 single base substitution G C upstream_gene_variant BTCA-JP 5 60170513 60170513 deletion of <=200bp A - intron_variant BTCA-JP 5 60220381 60220381 deletion of <=200bp C - intron_variant CESC-US 5 60186718 60186718 single base substitution G A splice_region_variant CESC-US 5 60186718 60186718 single base substitution G A stop_gained Q194* 580C>T CESC-US 5 60186718 60186718 single base substitution G A stop_gained Q289* 865C>T CESC-US 5 60186718 60186718 single base substitution G A stop_gained Q347* 1039C>T CESC-US 5 60186820 60186820 single base substitution C T 3_prime_UTR_variant CESC-US 5 60186820 60186820 single base substitution C T exon_variant CESC-US 5 60186820 60186820 single base substitution C T missense_variant G160S 478G>A CESC-US 5 60186820 60186820 single base substitution C T missense_variant G255S 763G>A CESC-US 5 60186820 60186820 single base substitution C T missense_variant G313S 937G>A CESC-US 5 60188027 60188027 single base substitution G A exon_variant CESC-US 5 60188027 60188027 single base substitution G A intron_variant CESC-US 5 60189042 60189042 single base substitution C T exon_variant CESC-US 5 60189042 60189042 single base substitution C T intron_variant CESC-US 5 60195471 60195471 single base substitution G A 3_prime_UTR_variant CESC-US 5 60195471 60195471 single base substitution G A downstream_gene_variant CESC-US 5 60195471 60195471 single base substitution G A exon_variant CESC-US 5 60195471 60195471 single base substitution G A missense_variant S176L 527C>T CESC-US 5 60195471 60195471 single base substitution G A missense_variant S234L 701C>T CESC-US 5 60195471 60195471 single base substitution G A missense_variant S81L 242C>T CESC-US 5 60240761 60240761 single base substitution C T splice_region_variant CLLE-ES 5 60164944 60164944 single base substitution G T downstream_gene_variant CLLE-ES 5 60209730 60209730 single base substitution T C downstream_gene_variant CLLE-ES 5 60209730 60209730 single base substitution T C intron_variant COAD-US 5 60200665 60200665 single base substitution A G 3_prime_UTR_variant COAD-US 5 60200665 60200665 single base substitution A G exon_variant COAD-US 5 60200665 60200665 single base substitution A G intron_variant COAD-US 5 60200665 60200665 single base substitution A G synonymous_variant Y145Y 435T>C COAD-US 5 60200665 60200665 single base substitution A G synonymous_variant Y87Y 261T>C COAD-US 5 60224713 60224713 single base substitution T C 5_prime_UTR_variant COAD-US 5 60224713 60224713 single base substitution T C exon_variant COAD-US 5 60224713 60224713 single base substitution T C missense_variant I51V 151A>G COAD-US 5 60241142 60241142 single base substitution G A upstream_gene_variant COCA-CN 5 60166187 60166187 single base substitution C G downstream_gene_variant COCA-CN 5 60170331 60170331 single base substitution T G 3_prime_UTR_variant COCA-CN 5 60170331 60170331 single base substitution T G exon_variant COCA-CN 5 60183406 60183406 single base substitution G T intron_variant COCA-CN 5 60186834 60186834 single base substitution A C 3_prime_UTR_variant COCA-CN 5 60186834 60186834 single base substitution A C exon_variant COCA-CN 5 60186834 60186834 single base substitution A C missense_variant V155G 464T>G COCA-CN 5 60186834 60186834 single base substitution A C missense_variant V250G 749T>G COCA-CN 5 60186834 60186834 single base substitution A C missense_variant V308G 923T>G COCA-CN 5 60188223 60188223 single base substitution G A exon_variant COCA-CN 5 60188223 60188223 single base substitution G A intron_variant COCA-CN 5 60189004 60189004 single base substitution C A exon_variant COCA-CN 5 60189004 60189004 single base substitution C A intron_variant COCA-CN 5 60189163 60189163 single base substitution C T downstream_gene_variant COCA-CN 5 60189163 60189163 single base substitution C T exon_variant COCA-CN 5 60189163 60189163 single base substitution C T intron_variant COCA-CN 5 60202580 60202580 single base substitution A T intron_variant COCA-CN 5 60208805 60208805 single base substitution G T downstream_gene_variant COCA-CN 5 60208805 60208805 single base substitution G T intron_variant COCA-CN 5 60240563 60240563 single base substitution A C intron_variant EOPC-DE 5 60183408 60183408 single base substitution A G intron_variant ESAD-UK 5 60165231 60165231 single base substitution C G downstream_gene_variant ESAD-UK 5 60166728 60166728 single base substitution A T downstream_gene_variant ESAD-UK 5 60167557 60167558 deletion of <=200bp AC - downstream_gene_variant ESAD-UK 5 60168531 60168531 single base substitution T C downstream_gene_variant ESAD-UK 5 60169340 60169340 single base substitution G A downstream_gene_variant ESAD-UK 5 60170209 60170209 single base substitution G A 3_prime_UTR_variant ESAD-UK 5 60170209 60170209 single base substitution G A exon_variant ESAD-UK 5 60170725 60170726 deletion of <=200bp TA - intron_variant ESAD-UK 5 60171385 60171385 single base substitution T C intron_variant ESAD-UK 5 60171822 60171822 single base substitution A G intron_variant ESAD-UK 5 60172962 60172962 single base substitution G A intron_variant ESAD-UK 5 60174355 60174355 single base substitution A G intron_variant ESAD-UK 5 60177514 60177514 single base substitution C T intron_variant ESAD-UK 5 60179178 60179178 single base substitution T A intron_variant ESAD-UK 5 60179190 60179190 single base substitution C A intron_variant ESAD-UK 5 60179268 60179268 single base substitution G C intron_variant ESAD-UK 5 60182568 60182568 single base substitution A T intron_variant ESAD-UK 5 60185863 60185863 single base substitution C A intron_variant ESAD-UK 5 60191231 60191231 single base substitution A C downstream_gene_variant ESAD-UK 5 60191231 60191231 single base substitution A C intron_variant ESAD-UK 5 60194367 60194367 single base substitution T G downstream_gene_variant ESAD-UK 5 60194367 60194367 single base substitution T G intron_variant ESAD-UK 5 60194424 60194424 single base substitution C G downstream_gene_variant ESAD-UK 5 60194424 60194424 single base substitution C G intron_variant ESAD-UK 5 60194779 60194779 single base substitution T A downstream_gene_variant ESAD-UK 5 60194779 60194779 single base substitution T A intron_variant ESAD-UK 5 60195371 60195371 single base substitution C T downstream_gene_variant ESAD-UK 5 60195371 60195371 single base substitution C T intron_variant ESAD-UK 5 60196372 60196372 single base substitution A T downstream_gene_variant ESAD-UK 5 60196372 60196372 single base substitution A T intron_variant ESAD-UK 5 60198224 60198226 deletion of <=200bp TTA - downstream_gene_variant ESAD-UK 5 60198224 60198226 deletion of <=200bp TTA - intron_variant ESAD-UK 5 60206914 60206914 single base substitution G C intron_variant ESAD-UK 5 60206914 60206914 single base substitution G C upstream_gene_variant ESAD-UK 5 60209158 60209158 single base substitution G T downstream_gene_variant ESAD-UK 5 60209158 60209158 single base substitution G T intron_variant ESAD-UK 5 60209715 60209715 single base substitution C A downstream_gene_variant ESAD-UK 5 60209715 60209715 single base substitution C A intron_variant ESAD-UK 5 60210732 60210732 single base substitution T C downstream_gene_variant ESAD-UK 5 60210732 60210732 single base substitution T C intron_variant ESAD-UK 5 60212508 60212508 insertion of <=200bp - A downstream_gene_variant ESAD-UK 5 60212508 60212508 insertion of <=200bp - A intron_variant ESAD-UK 5 60212855 60212855 single base substitution G A downstream_gene_variant ESAD-UK 5 60212855 60212855 single base substitution G A intron_variant ESAD-UK 5 60215675 60215675 single base substitution G A intron_variant ESAD-UK 5 60215675 60215675 single base substitution G A upstream_gene_variant ESAD-UK 5 60216929 60216929 single base substitution T A intron_variant ESAD-UK 5 60216929 60216929 single base substitution T A upstream_gene_variant ESAD-UK 5 60221800 60221800 single base substitution G A intron_variant ESAD-UK 5 60224566 60224566 deletion of <=200bp A - intron_variant ESAD-UK 5 60227129 60227129 single base substitution A T intron_variant ESAD-UK 5 60227300 60227300 single base substitution A C intron_variant ESAD-UK 5 60227936 60227936 single base substitution C T intron_variant ESAD-UK 5 60227936 60227936 single base substitution C T splice_region_variant ESAD-UK 5 60228912 60228912 single base substitution C G intron_variant ESAD-UK 5 60229530 60229530 single base substitution C T intron_variant ESAD-UK 5 60230661 60230661 single base substitution T C intron_variant ESAD-UK 5 60230662 60230662 single base substitution T C intron_variant ESAD-UK 5 60230665 60230666 deletion of <=200bp GG - intron_variant ESAD-UK 5 60231755 60231755 single base substitution G A intron_variant ESAD-UK 5 60232018 60232018 single base substitution C T intron_variant ESAD-UK 5 60234845 60234845 single base substitution T A intron_variant ESAD-UK 5 60236253 60236253 single base substitution T G intron_variant ESAD-UK 5 60238177 60238177 single base substitution T C intron_variant ESAD-UK 5 60238501 60238501 single base substitution C T intron_variant ESAD-UK 5 60238806 60238806 single base substitution A T intron_variant ESAD-UK 5 60239703 60239703 deletion of <=200bp A - intron_variant ESCA-CN 5 60187967 60187967 insertion of <=200bp - T exon_variant ESCA-CN 5 60187967 60187967 insertion of <=200bp - T intron_variant KIRC-US 5 60183307 60183307 single base substitution C T 3_prime_UTR_variant KIRC-US 5 60183307 60183307 single base substitution C T exon_variant KIRC-US 5 60183307 60183307 single base substitution C T stop_gained W208* 623G>A KIRC-US 5 60183307 60183307 single base substitution C T stop_gained W303* 908G>A KIRC-US 5 60183307 60183307 single base substitution C T stop_gained W361* 1082G>A LICA-FR 5 60176547 60176547 single base substitution T C intron_variant LICA-FR 5 60180365 60180365 single base substitution G T intron_variant LICA-FR 5 60200672 60200672 single base substitution G A 3_prime_UTR_variant LICA-FR 5 60200672 60200672 single base substitution G A exon_variant LICA-FR 5 60200672 60200672 single base substitution G A intron_variant LICA-FR 5 60200672 60200672 single base substitution G A missense_variant T143I 428C>T LICA-FR 5 60200672 60200672 single base substitution G A missense_variant T85I 254C>T LICA-FR 5 60215471 60215471 single base substitution T C intron_variant LICA-FR 5 60215471 60215471 single base substitution T C upstream_gene_variant LICA-FR 5 60224161 60224161 single base substitution T C intron_variant LICA-FR 5 60230449 60230449 single base substitution T A intron_variant LIHC-US 5 60200656 60200656 single base substitution A G 3_prime_UTR_variant LIHC-US 5 60200656 60200656 single base substitution A G exon_variant LIHC-US 5 60200656 60200656 single base substitution A G intron_variant LIHC-US 5 60200656 60200656 single base substitution A G synonymous_variant H148H 444T>C LIHC-US 5 60200656 60200656 single base substitution A G synonymous_variant H90H 270T>C LIHC-US 5 60217888 60217888 single base substitution T C 3_prime_UTR_variant LIHC-US 5 60217888 60217888 single base substitution T C 5_prime_UTR_variant LIHC-US 5 60217888 60217888 single base substitution T C exon_variant LIHC-US 5 60217888 60217888 single base substitution T C missense_variant I32V 94A>G LIHC-US 5 60217888 60217888 single base substitution T C missense_variant I90V 268A>G LIHC-US 5 60217888 60217888 single base substitution T C upstream_gene_variant LINC-JP 5 60166194 60166194 single base substitution G A downstream_gene_variant LINC-JP 5 60184931 60184931 single base substitution T C intron_variant LINC-JP 5 60185278 60185278 single base substitution A T intron_variant LINC-JP 5 60186866 60186866 single base substitution G T 3_prime_UTR_variant LINC-JP 5 60186866 60186866 single base substitution G T exon_variant LINC-JP 5 60186866 60186866 single base substitution G T missense_variant F144L 432C>A LINC-JP 5 60186866 60186866 single base substitution G T missense_variant F239L 717C>A LINC-JP 5 60186866 60186866 single base substitution G T missense_variant F297L 891C>A LINC-JP 5 60190195 60190195 single base substitution T C downstream_gene_variant LINC-JP 5 60190195 60190195 single base substitution T C intron_variant LINC-JP 5 60195257 60195257 single base substitution A G downstream_gene_variant LINC-JP 5 60195257 60195257 single base substitution A G intron_variant LINC-JP 5 60205908 60205908 single base substitution T C intron_variant LINC-JP 5 60205908 60205908 single base substitution T C upstream_gene_variant LINC-JP 5 60207084 60207084 single base substitution T A intron_variant LINC-JP 5 60207084 60207084 single base substitution T A upstream_gene_variant LINC-JP 5 60216327 60216327 single base substitution T C intron_variant LINC-JP 5 60216327 60216327 single base substitution T C upstream_gene_variant LINC-JP 5 60217632 60217632 single base substitution A G intron_variant LINC-JP 5 60217632 60217632 single base substitution A G upstream_gene_variant LINC-JP 5 60222184 60222184 single base substitution T C intron_variant LINC-JP 5 60228551 60228551 single base substitution G A intron_variant LINC-JP 5 60232711 60232711 single base substitution T C intron_variant LINC-JP 5 60233403 60233403 single base substitution G T intron_variant LINC-JP 5 60235877 60235877 single base substitution A G intron_variant LINC-JP 5 60241879 60241879 single base substitution A G upstream_gene_variant LIRI-JP 5 60166958 60166958 single base substitution T C downstream_gene_variant LIRI-JP 5 60167408 60167408 single base substitution G C downstream_gene_variant LIRI-JP 5 60167529 60167529 single base substitution T C downstream_gene_variant LIRI-JP 5 60170924 60170924 single base substitution G A intron_variant LIRI-JP 5 60172555 60172555 single base substitution T C intron_variant LIRI-JP 5 60174672 60174672 single base substitution G T intron_variant LIRI-JP 5 60174714 60174714 single base substitution T G intron_variant LIRI-JP 5 60175335 60175335 single base substitution C G intron_variant LIRI-JP 5 60175356 60175356 single base substitution C G intron_variant LIRI-JP 5 60178865 60178865 single base substitution T C intron_variant LIRI-JP 5 60179980 60179980 single base substitution C A intron_variant LIRI-JP 5 60182602 60182602 single base substitution T G intron_variant LIRI-JP 5 60182830 60182830 single base substitution T C intron_variant LIRI-JP 5 60182945 60182945 single base substitution T C intron_variant LIRI-JP 5 60183230 60183230 single base substitution T C intron_variant LIRI-JP 5 60184119 60184119 single base substitution A G intron_variant LIRI-JP 5 60184513 60184513 single base substitution A C intron_variant LIRI-JP 5 60184677 60184677 single base substitution C G intron_variant LIRI-JP 5 60186672 60186672 single base substitution C A intron_variant LIRI-JP 5 60187671 60187671 single base substitution T G intron_variant LIRI-JP 5 60187776 60187776 single base substitution T G intron_variant LIRI-JP 5 60189116 60189116 single base substitution C T exon_variant LIRI-JP 5 60189116 60189116 single base substitution C T intron_variant LIRI-JP 5 60189265 60189265 single base substitution T C downstream_gene_variant LIRI-JP 5 60189265 60189265 single base substitution T C exon_variant LIRI-JP 5 60189265 60189265 single base substitution T C intron_variant LIRI-JP 5 60189582 60189582 single base substitution G C downstream_gene_variant LIRI-JP 5 60189582 60189582 single base substitution G C intron_variant LIRI-JP 5 60190269 60190269 single base substitution T G downstream_gene_variant LIRI-JP 5 60190269 60190269 single base substitution T G intron_variant LIRI-JP 5 60190660 60190660 single base substitution A T downstream_gene_variant LIRI-JP 5 60190660 60190660 single base substitution A T intron_variant LIRI-JP 5 60194083 60194083 single base substitution T C downstream_gene_variant LIRI-JP 5 60194083 60194083 single base substitution T C intron_variant LIRI-JP 5 60194442 60194442 single base substitution A G downstream_gene_variant LIRI-JP 5 60194442 60194442 single base substitution A G intron_variant LIRI-JP 5 60194664 60194664 single base substitution T C downstream_gene_variant LIRI-JP 5 60194664 60194664 single base substitution T C intron_variant LIRI-JP 5 60195320 60195320 insertion of <=200bp - A downstream_gene_variant LIRI-JP 5 60195320 60195320 insertion of <=200bp - A intron_variant LIRI-JP 5 60196938 60196938 single base substitution G A downstream_gene_variant LIRI-JP 5 60196938 60196938 single base substitution G A intron_variant LIRI-JP 5 60197406 60197406 single base substitution T C downstream_gene_variant LIRI-JP 5 60197406 60197406 single base substitution T C intron_variant LIRI-JP 5 60198413 60198413 single base substitution T C downstream_gene_variant LIRI-JP 5 60198413 60198413 single base substitution T C intron_variant LIRI-JP 5 60198422 60198422 single base substitution A C downstream_gene_variant LIRI-JP 5 60198422 60198422 single base substitution A C intron_variant LIRI-JP 5 60198518 60198518 single base substitution T C downstream_gene_variant LIRI-JP 5 60198518 60198518 single base substitution T C intron_variant LIRI-JP 5 60202506 60202506 single base substitution A C intron_variant LIRI-JP 5 60203146 60203146 single base substitution T C exon_variant LIRI-JP 5 60203146 60203146 single base substitution T C intron_variant LIRI-JP 5 60205520 60205520 single base substitution C A intron_variant LIRI-JP 5 60205520 60205520 single base substitution C A upstream_gene_variant LIRI-JP 5 60205656 60205656 single base substitution C T intron_variant LIRI-JP 5 60205656 60205656 single base substitution C T upstream_gene_variant LIRI-JP 5 60206408 60206408 single base substitution C T intron_variant LIRI-JP 5 60206408 60206408 single base substitution C T upstream_gene_variant LIRI-JP 5 60212521 60212521 single base substitution T C downstream_gene_variant LIRI-JP 5 60212521 60212521 single base substitution T C intron_variant LIRI-JP 5 60213599 60213599 single base substitution T C downstream_gene_variant LIRI-JP 5 60213599 60213599 single base substitution T C intron_variant LIRI-JP 5 60215472 60215472 single base substitution A C intron_variant LIRI-JP 5 60215472 60215472 single base substitution A C upstream_gene_variant LIRI-JP 5 60216631 60216631 single base substitution C T intron_variant LIRI-JP 5 60216631 60216631 single base substitution C T upstream_gene_variant LIRI-JP 5 60217934 60217934 single base substitution C T 3_prime_UTR_variant LIRI-JP 5 60217934 60217934 single base substitution C T 5_prime_UTR_variant LIRI-JP 5 60217934 60217934 single base substitution C T exon_variant LIRI-JP 5 60217934 60217934 single base substitution C T synonymous_variant E16E 48G>A LIRI-JP 5 60217934 60217934 single base substitution C T synonymous_variant E74E 222G>A LIRI-JP 5 60217934 60217934 single base substitution C T upstream_gene_variant LIRI-JP 5 60220854 60220854 single base substitution T C intron_variant LIRI-JP 5 60221446 60221446 single base substitution C A intron_variant LIRI-JP 5 60223276 60223276 single base substitution A T intron_variant LIRI-JP 5 60224480 60224480 single base substitution T C intron_variant LIRI-JP 5 60226507 60226507 single base substitution C A intron_variant LIRI-JP 5 60227626 60227626 single base substitution T C intron_variant LIRI-JP 5 60229316 60229316 single base substitution A G intron_variant LIRI-JP 5 60229461 60229461 single base substitution T A intron_variant LIRI-JP 5 60229733 60229733 single base substitution A T intron_variant LIRI-JP 5 60230377 60230377 single base substitution T C intron_variant LIRI-JP 5 60232024 60232024 single base substitution T C intron_variant LIRI-JP 5 60234647 60234647 single base substitution T C intron_variant LIRI-JP 5 60234744 60234744 single base substitution T C intron_variant LIRI-JP 5 60235829 60235829 single base substitution T C intron_variant LIRI-JP 5 60237392 60237392 single base substitution T C intron_variant LIRI-JP 5 60240081 60240081 single base substitution C A intron_variant LIRI-JP 5 60241168 60241168 single base substitution G T upstream_gene_variant LIRI-JP 5 60241989 60241991 deletion of <=200bp TCT - upstream_gene_variant LUSC-KR 5 60164823 60164823 single base substitution C A downstream_gene_variant LUSC-KR 5 60166959 60166959 single base substitution C G downstream_gene_variant LUSC-KR 5 60172822 60172822 single base substitution G T intron_variant LUSC-KR 5 60175767 60175767 single base substitution G A intron_variant LUSC-KR 5 60178366 60178366 single base substitution C A intron_variant LUSC-KR 5 60179429 60179429 single base substitution C G intron_variant LUSC-KR 5 60180955 60180955 single base substitution C T intron_variant LUSC-KR 5 60183433 60183433 single base substitution G A intron_variant LUSC-KR 5 60189473 60189473 single base substitution G A downstream_gene_variant LUSC-KR 5 60189473 60189473 single base substitution G A intron_variant LUSC-KR 5 60189473 60189473 single base substitution G A splice_region_variant LUSC-KR 5 60193883 60193883 single base substitution T C downstream_gene_variant LUSC-KR 5 60193883 60193883 single base substitution T C intron_variant LUSC-KR 5 60197067 60197067 single base substitution C G downstream_gene_variant LUSC-KR 5 60197067 60197067 single base substitution C G intron_variant LUSC-KR 5 60197109 60197109 single base substitution G A downstream_gene_variant LUSC-KR 5 60197109 60197109 single base substitution G A intron_variant LUSC-KR 5 60209084 60209084 single base substitution C T downstream_gene_variant LUSC-KR 5 60209084 60209084 single base substitution C T intron_variant LUSC-KR 5 60210610 60210610 single base substitution G A downstream_gene_variant LUSC-KR 5 60210610 60210610 single base substitution G A intron_variant LUSC-KR 5 60221031 60221031 single base substitution C A intron_variant LUSC-KR 5 60221032 60221032 single base substitution C A intron_variant LUSC-KR 5 60226852 60226852 single base substitution C G intron_variant LUSC-KR 5 60231408 60231408 single base substitution G C intron_variant LUSC-KR 5 60232986 60232986 single base substitution C A intron_variant LUSC-US 5 60194165 60194165 single base substitution G T 3_prime_UTR_variant LUSC-US 5 60194165 60194165 single base substitution G T downstream_gene_variant LUSC-US 5 60194165 60194165 single base substitution G T exon_variant LUSC-US 5 60194165 60194165 single base substitution G T missense_variant L108I 322C>A LUSC-US 5 60194165 60194165 single base substitution G T missense_variant L203I 607C>A LUSC-US 5 60194165 60194165 single base substitution G T missense_variant L261I 781C>A LUSC-US 5 60194177 60194177 single base substitution C A 3_prime_UTR_variant LUSC-US 5 60194177 60194177 single base substitution C A downstream_gene_variant LUSC-US 5 60194177 60194177 single base substitution C A exon_variant LUSC-US 5 60194177 60194177 single base substitution C A stop_gained G104* 310G>T LUSC-US 5 60194177 60194177 single base substitution C A stop_gained G199* 595G>T LUSC-US 5 60194177 60194177 single base substitution C A stop_gained G257* 769G>T LUSC-US 5 60195503 60195503 single base substitution C G 3_prime_UTR_variant LUSC-US 5 60195503 60195503 single base substitution C G downstream_gene_variant LUSC-US 5 60195503 60195503 single base substitution C G exon_variant LUSC-US 5 60195503 60195503 single base substitution C G missense_variant L165F 495G>C LUSC-US 5 60195503 60195503 single base substitution C G missense_variant L223F 669G>C LUSC-US 5 60195503 60195503 single base substitution C G missense_variant L70F 210G>C MALY-DE 5 60165316 60165316 single base substitution T A downstream_gene_variant MALY-DE 5 60166354 60166354 single base substitution T G downstream_gene_variant MALY-DE 5 60167308 60167308 single base substitution G C downstream_gene_variant MALY-DE 5 60177644 60177644 single base substitution C T intron_variant MALY-DE 5 60180414 60180414 single base substitution T C intron_variant MALY-DE 5 60182531 60182536 deletion of <=200bp AAAAAT - intron_variant MALY-DE 5 60185416 60185416 single base substitution C A intron_variant MALY-DE 5 60190604 60190604 single base substitution T G downstream_gene_variant MALY-DE 5 60190604 60190604 single base substitution T G intron_variant MALY-DE 5 60194154 60194154 single base substitution A T 3_prime_UTR_variant MALY-DE 5 60194154 60194154 single base substitution A T downstream_gene_variant MALY-DE 5 60194154 60194154 single base substitution A T exon_variant MALY-DE 5 60194154 60194154 single base substitution A T synonymous_variant G111G 333T>A MALY-DE 5 60194154 60194154 single base substitution A T synonymous_variant G206G 618T>A MALY-DE 5 60194154 60194154 single base substitution A T synonymous_variant G264G 792T>A MALY-DE 5 60195644 60195644 single base substitution G A downstream_gene_variant MALY-DE 5 60195644 60195644 single base substitution G A intron_variant MALY-DE 5 60195989 60195989 single base substitution T C downstream_gene_variant MALY-DE 5 60195989 60195989 single base substitution T C intron_variant MALY-DE 5 60202249 60202249 single base substitution G A intron_variant MALY-DE 5 60207186 60207186 insertion of <=200bp - T intron_variant MALY-DE 5 60207186 60207186 insertion of <=200bp - T upstream_gene_variant MALY-DE 5 60215715 60215715 single base substitution G A intron_variant MALY-DE 5 60215715 60215715 single base substitution G A upstream_gene_variant MALY-DE 5 60239232 60239232 single base substitution T G intron_variant MALY-DE 5 60245568 60245568 single base substitution C G upstream_gene_variant MELA-AU 5 60164698 60164698 single base substitution G A downstream_gene_variant MELA-AU 5 60164924 60164924 single base substitution G A downstream_gene_variant MELA-AU 5 60164925 60164925 single base substitution G A downstream_gene_variant MELA-AU 5 60165713 60165713 single base substitution G A downstream_gene_variant MELA-AU 5 60165717 60165717 single base substitution G A downstream_gene_variant MELA-AU 5 60166119 60166120 multiple base substitution (>=2bp and <=200bp) TG AT downstream_gene_variant MELA-AU 5 60166170 60166170 single base substitution G A downstream_gene_variant MELA-AU 5 60166182 60166182 single base substitution G A downstream_gene_variant MELA-AU 5 60166397 60166397 single base substitution G A downstream_gene_variant MELA-AU 5 60166503 60166503 single base substitution G A downstream_gene_variant MELA-AU 5 60166511 60166511 single base substitution G A downstream_gene_variant MELA-AU 5 60166554 60166554 single base substitution C T downstream_gene_variant MELA-AU 5 60166797 60166797 single base substitution G A downstream_gene_variant MELA-AU 5 60166798 60166798 single base substitution G A downstream_gene_variant MELA-AU 5 60166843 60166843 single base substitution G A downstream_gene_variant MELA-AU 5 60167263 60167263 single base substitution G A downstream_gene_variant MELA-AU 5 60167450 60167450 single base substitution T C downstream_gene_variant MELA-AU 5 60168262 60168262 single base substitution G A downstream_gene_variant MELA-AU 5 60168388 60168388 single base substitution G A downstream_gene_variant MELA-AU 5 60168427 60168427 single base substitution T C downstream_gene_variant MELA-AU 5 60168892 60168892 single base substitution G A downstream_gene_variant MELA-AU 5 60168976 60168976 single base substitution G A downstream_gene_variant MELA-AU 5 60169056 60169056 single base substitution A T downstream_gene_variant MELA-AU 5 60169125 60169125 single base substitution A C downstream_gene_variant MELA-AU 5 60169191 60169191 single base substitution A G downstream_gene_variant MELA-AU 5 60169610 60169610 single base substitution G A downstream_gene_variant MELA-AU 5 60170093 60170093 single base substitution C G 3_prime_UTR_variant MELA-AU 5 60170093 60170093 single base substitution C G exon_variant MELA-AU 5 60170173 60170173 single base substitution G A 3_prime_UTR_variant MELA-AU 5 60170173 60170173 single base substitution G A exon_variant MELA-AU 5 60170235 60170235 single base substitution G A 3_prime_UTR_variant MELA-AU 5 60170235 60170235 single base substitution G A exon_variant MELA-AU 5 60170649 60170649 single base substitution C A intron_variant MELA-AU 5 60170833 60170833 single base substitution G A intron_variant MELA-AU 5 60171491 60171491 single base substitution A C intron_variant MELA-AU 5 60171658 60171658 single base substitution G A intron_variant MELA-AU 5 60173406 60173406 single base substitution G A intron_variant MELA-AU 5 60173422 60173422 single base substitution C T intron_variant MELA-AU 5 60173649 60173649 single base substitution G A intron_variant MELA-AU 5 60174039 60174039 single base substitution G A intron_variant MELA-AU 5 60174088 60174088 single base substitution G A intron_variant MELA-AU 5 60174114 60174114 single base substitution G A intron_variant MELA-AU 5 60174115 60174115 single base substitution G A intron_variant MELA-AU 5 60174372 60174372 single base substitution C A intron_variant MELA-AU 5 60174865 60174865 single base substitution G A intron_variant MELA-AU 5 60174970 60174970 single base substitution G A intron_variant MELA-AU 5 60175099 60175099 single base substitution G A intron_variant MELA-AU 5 60177550 60177550 single base substitution G A intron_variant MELA-AU 5 60177610 60177610 single base substitution G A intron_variant MELA-AU 5 60178128 60178128 single base substitution G A intron_variant MELA-AU 5 60178267 60178267 single base substitution G A intron_variant MELA-AU 5 60178389 60178389 single base substitution T C intron_variant MELA-AU 5 60178516 60178516 single base substitution G A intron_variant MELA-AU 5 60179103 60179103 single base substitution C T intron_variant MELA-AU 5 60179249 60179249 single base substitution G A intron_variant MELA-AU 5 60179671 60179671 single base substitution A G intron_variant MELA-AU 5 60179827 60179828 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 60179891 60179891 single base substitution G A intron_variant MELA-AU 5 60180102 60180102 single base substitution C T intron_variant MELA-AU 5 60180123 60180123 single base substitution G A intron_variant MELA-AU 5 60180247 60180247 single base substitution G A intron_variant MELA-AU 5 60181061 60181061 single base substitution G A intron_variant MELA-AU 5 60181085 60181085 single base substitution C T intron_variant MELA-AU 5 60182403 60182403 single base substitution C T intron_variant MELA-AU 5 60182574 60182574 single base substitution G A intron_variant MELA-AU 5 60182898 60182898 single base substitution G A intron_variant MELA-AU 5 60182899 60182899 single base substitution G A intron_variant MELA-AU 5 60183025 60183026 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 60183298 60183298 single base substitution G A 3_prime_UTR_variant MELA-AU 5 60183298 60183298 single base substitution G A exon_variant MELA-AU 5 60183298 60183298 single base substitution G A missense_variant S211F 632C>T MELA-AU 5 60183298 60183298 single base substitution G A missense_variant S306F 917C>T MELA-AU 5 60183298 60183298 single base substitution G A missense_variant S364F 1091C>T MELA-AU 5 60183401 60183401 single base substitution G A intron_variant MELA-AU 5 60185371 60185371 single base substitution G A intron_variant MELA-AU 5 60185436 60185436 single base substitution G A intron_variant MELA-AU 5 60185576 60185576 single base substitution G A intron_variant MELA-AU 5 60185873 60185873 single base substitution G A intron_variant MELA-AU 5 60187011 60187011 single base substitution G A intron_variant MELA-AU 5 60187016 60187016 single base substitution C T intron_variant MELA-AU 5 60187466 60187466 single base substitution G A intron_variant MELA-AU 5 60187739 60187739 single base substitution G A intron_variant MELA-AU 5 60187760 60187760 single base substitution G T intron_variant MELA-AU 5 60187892 60187892 single base substitution C T exon_variant MELA-AU 5 60187892 60187892 single base substitution C T intron_variant MELA-AU 5 60187902 60187902 single base substitution G A exon_variant MELA-AU 5 60187902 60187902 single base substitution G A intron_variant MELA-AU 5 60187916 60187916 single base substitution G A exon_variant MELA-AU 5 60187916 60187916 single base substitution G A intron_variant MELA-AU 5 60188054 60188054 single base substitution C T exon_variant MELA-AU 5 60188054 60188054 single base substitution C T intron_variant MELA-AU 5 60188629 60188629 single base substitution G A exon_variant MELA-AU 5 60188629 60188629 single base substitution G A intron_variant MELA-AU 5 60189327 60189327 single base substitution C T downstream_gene_variant MELA-AU 5 60189327 60189327 single base substitution C T exon_variant MELA-AU 5 60189327 60189327 single base substitution C T intron_variant MELA-AU 5 60189402 60189402 single base substitution C T downstream_gene_variant MELA-AU 5 60189402 60189402 single base substitution C T exon_variant MELA-AU 5 60189402 60189402 single base substitution C T intron_variant MELA-AU 5 60189467 60189467 single base substitution G A downstream_gene_variant MELA-AU 5 60189467 60189467 single base substitution G A exon_variant MELA-AU 5 60189467 60189467 single base substitution G A intron_variant MELA-AU 5 60189581 60189581 single base substitution G A downstream_gene_variant MELA-AU 5 60189581 60189581 single base substitution G A intron_variant MELA-AU 5 60189935 60189935 single base substitution C T downstream_gene_variant MELA-AU 5 60189935 60189935 single base substitution C T intron_variant MELA-AU 5 60190242 60190242 single base substitution G A downstream_gene_variant MELA-AU 5 60190242 60190242 single base substitution G A intron_variant MELA-AU 5 60190439 60190439 single base substitution C T downstream_gene_variant MELA-AU 5 60190439 60190439 single base substitution C T intron_variant MELA-AU 5 60191149 60191149 single base substitution C T downstream_gene_variant MELA-AU 5 60191149 60191149 single base substitution C T intron_variant MELA-AU 5 60191946 60191946 single base substitution G A downstream_gene_variant MELA-AU 5 60191946 60191946 single base substitution G A intron_variant MELA-AU 5 60192032 60192032 single base substitution G A downstream_gene_variant MELA-AU 5 60192032 60192032 single base substitution G A intron_variant MELA-AU 5 60192092 60192093 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 60192092 60192093 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 60192466 60192466 single base substitution C T downstream_gene_variant MELA-AU 5 60192466 60192466 single base substitution C T intron_variant MELA-AU 5 60192972 60192972 single base substitution G A downstream_gene_variant MELA-AU 5 60192972 60192972 single base substitution G A intron_variant MELA-AU 5 60193072 60193072 single base substitution A G downstream_gene_variant MELA-AU 5 60193072 60193072 single base substitution A G intron_variant MELA-AU 5 60193851 60193851 single base substitution G A downstream_gene_variant MELA-AU 5 60193851 60193851 single base substitution G A intron_variant MELA-AU 5 60194165 60194165 single base substitution G A 3_prime_UTR_variant MELA-AU 5 60194165 60194165 single base substitution G A downstream_gene_variant MELA-AU 5 60194165 60194165 single base substitution G A exon_variant MELA-AU 5 60194165 60194165 single base substitution G A missense_variant L108F 322C>T MELA-AU 5 60194165 60194165 single base substitution G A missense_variant L203F 607C>T MELA-AU 5 60194165 60194165 single base substitution G A missense_variant L261F 781C>T MELA-AU 5 60194436 60194436 single base substitution G A downstream_gene_variant MELA-AU 5 60194436 60194436 single base substitution G A intron_variant MELA-AU 5 60194477 60194477 single base substitution G A downstream_gene_variant MELA-AU 5 60194477 60194477 single base substitution G A intron_variant MELA-AU 5 60194486 60194486 single base substitution C T downstream_gene_variant MELA-AU 5 60194486 60194486 single base substitution C T intron_variant MELA-AU 5 60195848 60195848 single base substitution G A downstream_gene_variant MELA-AU 5 60195848 60195848 single base substitution G A intron_variant MELA-AU 5 60196440 60196440 single base substitution C A downstream_gene_variant MELA-AU 5 60196440 60196440 single base substitution C A intron_variant MELA-AU 5 60197154 60197154 single base substitution G A downstream_gene_variant MELA-AU 5 60197154 60197154 single base substitution G A intron_variant MELA-AU 5 60197270 60197270 single base substitution C A downstream_gene_variant MELA-AU 5 60197270 60197270 single base substitution C A intron_variant MELA-AU 5 60197581 60197581 single base substitution C T downstream_gene_variant MELA-AU 5 60197581 60197581 single base substitution C T intron_variant MELA-AU 5 60198056 60198057 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 60198056 60198057 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 60198663 60198663 single base substitution A G downstream_gene_variant MELA-AU 5 60198663 60198663 single base substitution A G intron_variant MELA-AU 5 60199655 60199655 single base substitution G A intron_variant MELA-AU 5 60200916 60200916 single base substitution T G intron_variant MELA-AU 5 60200938 60200938 single base substitution A G intron_variant MELA-AU 5 60201559 60201559 single base substitution A G intron_variant MELA-AU 5 60201845 60201845 single base substitution G A intron_variant MELA-AU 5 60202005 60202005 single base substitution G A intron_variant MELA-AU 5 60203062 60203062 single base substitution G A intron_variant MELA-AU 5 60203271 60203271 single base substitution C T exon_variant MELA-AU 5 60203271 60203271 single base substitution C T intron_variant MELA-AU 5 60203795 60203795 single base substitution G A intron_variant MELA-AU 5 60203795 60203795 single base substitution G A upstream_gene_variant MELA-AU 5 60204211 60204211 single base substitution G A intron_variant MELA-AU 5 60204211 60204211 single base substitution G A upstream_gene_variant MELA-AU 5 60205247 60205247 single base substitution C T intron_variant MELA-AU 5 60205247 60205247 single base substitution C T upstream_gene_variant MELA-AU 5 60205676 60205676 single base substitution G A intron_variant MELA-AU 5 60205676 60205676 single base substitution G A upstream_gene_variant MELA-AU 5 60205713 60205713 single base substitution G A intron_variant MELA-AU 5 60205713 60205713 single base substitution G A upstream_gene_variant MELA-AU 5 60205943 60205943 single base substitution A T intron_variant MELA-AU 5 60205943 60205943 single base substitution A T upstream_gene_variant MELA-AU 5 60205944 60205944 single base substitution G A intron_variant MELA-AU 5 60205944 60205944 single base substitution G A upstream_gene_variant MELA-AU 5 60206168 60206168 single base substitution T C intron_variant MELA-AU 5 60206168 60206168 single base substitution T C upstream_gene_variant MELA-AU 5 60206296 60206296 single base substitution G A intron_variant MELA-AU 5 60206296 60206296 single base substitution G A upstream_gene_variant MELA-AU 5 60206745 60206745 single base substitution G A intron_variant MELA-AU 5 60206745 60206745 single base substitution G A upstream_gene_variant MELA-AU 5 60207115 60207116 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 60207115 60207116 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 60207129 60207129 single base substitution G A intron_variant MELA-AU 5 60207129 60207129 single base substitution G A upstream_gene_variant MELA-AU 5 60207480 60207480 single base substitution G A intron_variant MELA-AU 5 60207480 60207480 single base substitution G A upstream_gene_variant MELA-AU 5 60207510 60207510 single base substitution G A intron_variant MELA-AU 5 60207510 60207510 single base substitution G A upstream_gene_variant MELA-AU 5 60208203 60208203 single base substitution G T intron_variant MELA-AU 5 60208203 60208203 single base substitution G T upstream_gene_variant MELA-AU 5 60208249 60208249 single base substitution G A intron_variant MELA-AU 5 60208249 60208249 single base substitution G A upstream_gene_variant MELA-AU 5 60208308 60208308 single base substitution G A intron_variant MELA-AU 5 60208308 60208308 single base substitution G A upstream_gene_variant MELA-AU 5 60208369 60208369 single base substitution G A intron_variant MELA-AU 5 60208463 60208463 single base substitution G A intron_variant MELA-AU 5 60208836 60208836 single base substitution G A downstream_gene_variant MELA-AU 5 60208836 60208836 single base substitution G A intron_variant MELA-AU 5 60208946 60208946 single base substitution G A downstream_gene_variant MELA-AU 5 60208946 60208946 single base substitution G A intron_variant MELA-AU 5 60209297 60209297 single base substitution G A downstream_gene_variant MELA-AU 5 60209297 60209297 single base substitution G A intron_variant MELA-AU 5 60209385 60209385 single base substitution G A downstream_gene_variant MELA-AU 5 60209385 60209385 single base substitution G A intron_variant MELA-AU 5 60209804 60209804 single base substitution C T downstream_gene_variant MELA-AU 5 60209804 60209804 single base substitution C T intron_variant MELA-AU 5 60210076 60210076 single base substitution G A downstream_gene_variant MELA-AU 5 60210076 60210076 single base substitution G A intron_variant MELA-AU 5 60210274 60210274 single base substitution C T downstream_gene_variant MELA-AU 5 60210274 60210274 single base substitution C T intron_variant MELA-AU 5 60210386 60210386 single base substitution G A downstream_gene_variant MELA-AU 5 60210386 60210386 single base substitution G A intron_variant MELA-AU 5 60210390 60210390 single base substitution G A downstream_gene_variant MELA-AU 5 60210390 60210390 single base substitution G A intron_variant MELA-AU 5 60211151 60211151 single base substitution G A downstream_gene_variant MELA-AU 5 60211151 60211151 single base substitution G A intron_variant MELA-AU 5 60211283 60211283 single base substitution G A downstream_gene_variant MELA-AU 5 60211283 60211283 single base substitution G A intron_variant MELA-AU 5 60211390 60211390 single base substitution C T downstream_gene_variant MELA-AU 5 60211390 60211390 single base substitution C T intron_variant MELA-AU 5 60212107 60212107 single base substitution G A downstream_gene_variant MELA-AU 5 60212107 60212107 single base substitution G A intron_variant MELA-AU 5 60212171 60212171 single base substitution C T downstream_gene_variant MELA-AU 5 60212171 60212171 single base substitution C T intron_variant MELA-AU 5 60213289 60213289 single base substitution G A downstream_gene_variant MELA-AU 5 60213289 60213289 single base substitution G A intron_variant MELA-AU 5 60213399 60213399 single base substitution A G downstream_gene_variant MELA-AU 5 60213399 60213399 single base substitution A G intron_variant MELA-AU 5 60213464 60213464 single base substitution G A downstream_gene_variant MELA-AU 5 60213464 60213464 single base substitution G A intron_variant MELA-AU 5 60214872 60214872 single base substitution G A intron_variant MELA-AU 5 60214872 60214872 single base substitution G A upstream_gene_variant MELA-AU 5 60214917 60214917 single base substitution G A intron_variant MELA-AU 5 60214917 60214917 single base substitution G A upstream_gene_variant MELA-AU 5 60215812 60215813 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 60215812 60215813 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 60216398 60216400 deletion of <=200bp TAA - intron_variant MELA-AU 5 60216398 60216400 deletion of <=200bp TAA - upstream_gene_variant MELA-AU 5 60218093 60218093 single base substitution G A intron_variant MELA-AU 5 60218093 60218093 single base substitution G A upstream_gene_variant MELA-AU 5 60218951 60218951 single base substitution G A intron_variant MELA-AU 5 60218951 60218951 single base substitution G A upstream_gene_variant MELA-AU 5 60219828 60219828 single base substitution A T intron_variant MELA-AU 5 60221892 60221892 single base substitution T A intron_variant MELA-AU 5 60222052 60222052 single base substitution T A intron_variant MELA-AU 5 60222152 60222152 single base substitution G A intron_variant MELA-AU 5 60223731 60223731 single base substitution G A intron_variant MELA-AU 5 60224318 60224318 single base substitution C T intron_variant MELA-AU 5 60224407 60224407 single base substitution T A intron_variant MELA-AU 5 60225333 60225333 single base substitution G A intron_variant MELA-AU 5 60226450 60226451 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 60226702 60226702 single base substitution G A intron_variant MELA-AU 5 60227114 60227114 single base substitution G A intron_variant MELA-AU 5 60227567 60227567 single base substitution G A intron_variant MELA-AU 5 60227694 60227694 single base substitution C T intron_variant MELA-AU 5 60227736 60227736 single base substitution C T intron_variant MELA-AU 5 60227982 60227982 single base substitution G A intron_variant MELA-AU 5 60227982 60227982 single base substitution G A splice_region_variant MELA-AU 5 60227984 60227984 single base substitution A T intron_variant MELA-AU 5 60228025 60228025 single base substitution G A intron_variant MELA-AU 5 60228256 60228256 single base substitution G A intron_variant MELA-AU 5 60228634 60228634 single base substitution G A intron_variant MELA-AU 5 60228827 60228827 single base substitution T A intron_variant MELA-AU 5 60229315 60229315 single base substitution G A intron_variant MELA-AU 5 60229395 60229395 single base substitution G A intron_variant MELA-AU 5 60229435 60229435 single base substitution G A intron_variant MELA-AU 5 60230414 60230414 single base substitution C T intron_variant MELA-AU 5 60230506 60230506 single base substitution G A intron_variant MELA-AU 5 60230811 60230811 single base substitution G A intron_variant MELA-AU 5 60230818 60230818 single base substitution G A intron_variant MELA-AU 5 60231140 60231140 single base substitution G A intron_variant MELA-AU 5 60231263 60231263 single base substitution G A intron_variant MELA-AU 5 60231883 60231883 single base substitution G A intron_variant MELA-AU 5 60232284 60232284 single base substitution G A intron_variant MELA-AU 5 60232789 60232789 single base substitution G A intron_variant MELA-AU 5 60232997 60232998 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 5 60233011 60233011 single base substitution G A intron_variant MELA-AU 5 60233338 60233338 single base substitution G A intron_variant MELA-AU 5 60233622 60233622 single base substitution G A intron_variant MELA-AU 5 60235216 60235216 single base substitution G A intron_variant MELA-AU 5 60235709 60235709 single base substitution A C intron_variant MELA-AU 5 60236158 60236158 single base substitution G A intron_variant MELA-AU 5 60236201 60236201 single base substitution T C intron_variant MELA-AU 5 60236384 60236384 single base substitution G A intron_variant MELA-AU 5 60236813 60236813 single base substitution G A intron_variant MELA-AU 5 60237305 60237305 single base substitution G A intron_variant MELA-AU 5 60237534 60237534 single base substitution G A intron_variant MELA-AU 5 60237631 60237631 single base substitution A T intron_variant MELA-AU 5 60237706 60237706 single base substitution T A intron_variant MELA-AU 5 60238480 60238480 single base substitution G A intron_variant MELA-AU 5 60239333 60239333 single base substitution C T intron_variant MELA-AU 5 60240052 60240052 single base substitution C T intron_variant MELA-AU 5 60240124 60240124 single base substitution T A intron_variant MELA-AU 5 60240865 60240865 single base substitution G A 5_prime_UTR_variant MELA-AU 5 60240865 60240865 single base substitution G A exon_variant MELA-AU 5 60241398 60241398 single base substitution T C upstream_gene_variant MELA-AU 5 60241631 60241631 single base substitution T C upstream_gene_variant MELA-AU 5 60243542 60243542 single base substitution G A upstream_gene_variant MELA-AU 5 60243961 60243961 single base substitution T A upstream_gene_variant MELA-AU 5 60244077 60244077 single base substitution C T upstream_gene_variant MELA-AU 5 60244309 60244309 single base substitution G A upstream_gene_variant MELA-AU 5 60244427 60244427 single base substitution G A upstream_gene_variant MELA-AU 5 60245097 60245097 single base substitution C T upstream_gene_variant MELA-AU 5 60245538 60245538 single base substitution C T upstream_gene_variant ORCA-IN 5 60174108 60174108 single base substitution T C intron_variant ORCA-IN 5 60178379 60178379 single base substitution C T intron_variant ORCA-IN 5 60178832 60178833 deletion of <=200bp AT - intron_variant ORCA-IN 5 60182875 60182875 single base substitution C G intron_variant ORCA-IN 5 60187289 60187289 single base substitution G A intron_variant ORCA-IN 5 60229662 60229662 single base substitution C G intron_variant ORCA-IN 5 60235196 60235196 single base substitution C T intron_variant OV-AU 5 60180724 60180724 single base substitution T C intron_variant OV-AU 5 60181932 60181932 single base substitution G C intron_variant OV-AU 5 60187592 60187592 single base substitution T C intron_variant OV-AU 5 60187980 60187980 single base substitution G T exon_variant OV-AU 5 60187980 60187980 single base substitution G T intron_variant OV-AU 5 60195680 60195680 single base substitution G C downstream_gene_variant OV-AU 5 60195680 60195680 single base substitution G C intron_variant OV-AU 5 60196755 60196755 single base substitution T C downstream_gene_variant OV-AU 5 60196755 60196755 single base substitution T C intron_variant OV-AU 5 60199263 60199263 single base substitution T C exon_variant OV-AU 5 60199263 60199263 single base substitution T C intron_variant OV-AU 5 60199269 60199269 single base substitution A T exon_variant OV-AU 5 60199269 60199269 single base substitution A T intron_variant OV-AU 5 60203085 60203085 single base substitution C T intron_variant OV-AU 5 60207306 60207306 single base substitution C T intron_variant OV-AU 5 60207306 60207306 single base substitution C T upstream_gene_variant OV-AU 5 60209135 60209135 single base substitution G A downstream_gene_variant OV-AU 5 60209135 60209135 single base substitution G A intron_variant OV-AU 5 60212210 60212210 single base substitution A G downstream_gene_variant OV-AU 5 60212210 60212210 single base substitution A G intron_variant OV-AU 5 60238308 60238308 single base substitution T C intron_variant OV-AU 5 60239994 60239994 single base substitution C T intron_variant PACA-AU 5 60166118 60166118 single base substitution T C downstream_gene_variant PACA-AU 5 60167367 60167367 single base substitution T G downstream_gene_variant PACA-AU 5 60175676 60175676 single base substitution C A intron_variant PACA-AU 5 60188970 60188972 deletion of <=200bp AGC - exon_variant PACA-AU 5 60188970 60188972 deletion of <=200bp AGC - intron_variant PACA-AU 5 60194143 60194143 single base substitution C T 3_prime_UTR_variant PACA-AU 5 60194143 60194143 single base substitution C T downstream_gene_variant PACA-AU 5 60194143 60194143 single base substitution C T exon_variant PACA-AU 5 60194143 60194143 single base substitution C T missense_variant R115Q 344G>A PACA-AU 5 60194143 60194143 single base substitution C T missense_variant R210Q 629G>A PACA-AU 5 60194143 60194143 single base substitution C T missense_variant R268Q 803G>A PACA-AU 5 60194888 60194888 single base substitution T G downstream_gene_variant PACA-AU 5 60194888 60194888 single base substitution T G intron_variant PACA-AU 5 60197023 60197023 single base substitution T A downstream_gene_variant PACA-AU 5 60197023 60197023 single base substitution T A intron_variant PACA-AU 5 60198597 60198597 single base substitution T A downstream_gene_variant PACA-AU 5 60198597 60198597 single base substitution T A intron_variant PACA-AU 5 60199165 60199166 deletion of <=200bp AT - downstream_gene_variant PACA-AU 5 60199165 60199166 deletion of <=200bp AT - intron_variant PACA-AU 5 60200881 60200881 single base substitution A G intron_variant PACA-AU 5 60204280 60204280 single base substitution C T intron_variant PACA-AU 5 60204280 60204280 single base substitution C T upstream_gene_variant PACA-AU 5 60211667 60211667 single base substitution T C downstream_gene_variant PACA-AU 5 60211667 60211667 single base substitution T C intron_variant PACA-AU 5 60213291 60213291 single base substitution T G downstream_gene_variant PACA-AU 5 60213291 60213291 single base substitution T G intron_variant PACA-AU 5 60215724 60215724 single base substitution T G intron_variant PACA-AU 5 60215724 60215724 single base substitution T G upstream_gene_variant PACA-AU 5 60221952 60221952 single base substitution T A intron_variant PACA-AU 5 60229832 60229832 single base substitution T C intron_variant PACA-AU 5 60231819 60231819 single base substitution C T intron_variant PACA-AU 5 60232501 60232501 single base substitution C G intron_variant PACA-AU 5 60238650 60238650 deletion of <=200bp T - intron_variant PACA-AU 5 60245431 60245431 deletion of <=200bp A - upstream_gene_variant PACA-CA 5 60166942 60166942 deletion of <=200bp A - downstream_gene_variant PACA-CA 5 60167490 60167490 single base substitution T C downstream_gene_variant PACA-CA 5 60171445 60171445 single base substitution G T intron_variant PACA-CA 5 60172603 60172603 single base substitution A G intron_variant PACA-CA 5 60174554 60174554 insertion of <=200bp - T intron_variant PACA-CA 5 60175138 60175138 single base substitution G A intron_variant PACA-CA 5 60176443 60176443 single base substitution G C intron_variant PACA-CA 5 60186877 60186877 single base substitution C T 3_prime_UTR_variant PACA-CA 5 60186877 60186877 single base substitution C T exon_variant PACA-CA 5 60186877 60186877 single base substitution C T missense_variant G141R 421G>A PACA-CA 5 60186877 60186877 single base substitution C T missense_variant G236R 706G>A PACA-CA 5 60186877 60186877 single base substitution C T missense_variant G294R 880G>A PACA-CA 5 60187512 60187514 deletion of <=200bp CTT - intron_variant PACA-CA 5 60189465 60189465 single base substitution G A downstream_gene_variant PACA-CA 5 60189465 60189465 single base substitution G A exon_variant PACA-CA 5 60189465 60189465 single base substitution G A intron_variant PACA-CA 5 60193165 60193165 single base substitution C T downstream_gene_variant PACA-CA 5 60193165 60193165 single base substitution C T intron_variant PACA-CA 5 60194963 60194963 single base substitution T G downstream_gene_variant PACA-CA 5 60194963 60194963 single base substitution T G intron_variant PACA-CA 5 60196896 60196896 single base substitution A G downstream_gene_variant PACA-CA 5 60196896 60196896 single base substitution A G intron_variant PACA-CA 5 60199032 60199032 single base substitution A C downstream_gene_variant PACA-CA 5 60199032 60199032 single base substitution A C intron_variant PACA-CA 5 60201625 60201625 single base substitution T G intron_variant PACA-CA 5 60204459 60204459 single base substitution A G intron_variant PACA-CA 5 60204459 60204459 single base substitution A G upstream_gene_variant PACA-CA 5 60206342 60206342 single base substitution T A intron_variant PACA-CA 5 60206342 60206342 single base substitution T A upstream_gene_variant PACA-CA 5 60208024 60208024 single base substitution C T intron_variant PACA-CA 5 60208024 60208024 single base substitution C T upstream_gene_variant PACA-CA 5 60212508 60212508 deletion of <=200bp A - downstream_gene_variant PACA-CA 5 60212508 60212508 deletion of <=200bp A - intron_variant PACA-CA 5 60215503 60215503 single base substitution T A intron_variant PACA-CA 5 60215503 60215503 single base substitution T A upstream_gene_variant PACA-CA 5 60220315 60220315 single base substitution C G 3_prime_UTR_variant PACA-CA 5 60220315 60220315 single base substitution C G 5_prime_UTR_variant PACA-CA 5 60220315 60220315 single base substitution C G intron_variant PACA-CA 5 60221104 60221104 single base substitution C A intron_variant PACA-CA 5 60221655 60221655 single base substitution C G intron_variant PACA-CA 5 60221947 60221947 single base substitution C T intron_variant PACA-CA 5 60222999 60222999 single base substitution T C intron_variant PACA-CA 5 60224739 60224739 single base substitution T C 5_prime_UTR_variant PACA-CA 5 60224739 60224739 single base substitution T C exon_variant PACA-CA 5 60224739 60224739 single base substitution T C missense_variant H42R 125A>G PACA-CA 5 60225727 60225727 single base substitution T C intron_variant PACA-CA 5 60229362 60229362 single base substitution C T intron_variant PACA-CA 5 60234954 60234954 single base substitution G T intron_variant PACA-CA 5 60235817 60235817 single base substitution T C intron_variant PACA-CA 5 60235925 60235925 single base substitution A C intron_variant PACA-CA 5 60242217 60242217 single base substitution A C upstream_gene_variant PAEN-AU 5 60170982 60170982 single base substitution T C intron_variant PAEN-AU 5 60182531 60182531 insertion of <=200bp - AAAAAT intron_variant PAEN-AU 5 60193896 60193896 single base substitution C T downstream_gene_variant PAEN-AU 5 60193896 60193896 single base substitution C T intron_variant PAEN-AU 5 60235379 60235379 single base substitution T G intron_variant PAEN-IT 5 60177503 60177503 single base substitution C G intron_variant PAEN-IT 5 60229999 60229999 single base substitution T C intron_variant PBCA-DE 5 60168436 60168436 single base substitution G T downstream_gene_variant PBCA-DE 5 60178798 60178799 deletion of <=200bp AC - intron_variant PBCA-DE 5 60202161 60202162 deletion of <=200bp TA - intron_variant PBCA-DE 5 60204392 60204393 deletion of <=200bp AT - intron_variant PBCA-DE 5 60204392 60204393 deletion of <=200bp AT - upstream_gene_variant PBCA-DE 5 60205070 60205076 deletion of <=200bp GAAAAAA - intron_variant PBCA-DE 5 60205070 60205076 deletion of <=200bp GAAAAAA - upstream_gene_variant PBCA-DE 5 60206408 60206408 single base substitution C T intron_variant PBCA-DE 5 60206408 60206408 single base substitution C T upstream_gene_variant PBCA-DE 5 60209252 60209252 single base substitution G A downstream_gene_variant PBCA-DE 5 60209252 60209252 single base substitution G A intron_variant PBCA-DE 5 60210752 60210752 single base substitution C A downstream_gene_variant PBCA-DE 5 60210752 60210752 single base substitution C A intron_variant PBCA-DE 5 60225531 60225534 deletion of <=200bp TATT - intron_variant PRAD-CA 5 60165430 60165430 single base substitution T C downstream_gene_variant PRAD-CA 5 60174565 60174565 single base substitution G A intron_variant PRAD-CA 5 60178335 60178335 single base substitution C T intron_variant PRAD-CA 5 60182107 60182107 single base substitution G A intron_variant PRAD-CA 5 60193198 60193198 single base substitution T C downstream_gene_variant PRAD-CA 5 60193198 60193198 single base substitution T C intron_variant PRAD-CA 5 60197100 60197100 single base substitution T C downstream_gene_variant PRAD-CA 5 60197100 60197100 single base substitution T C intron_variant PRAD-CA 5 60205799 60205799 single base substitution A T intron_variant PRAD-CA 5 60205799 60205799 single base substitution A T upstream_gene_variant PRAD-CA 5 60208805 60208805 single base substitution G T downstream_gene_variant PRAD-CA 5 60208805 60208805 single base substitution G T intron_variant PRAD-CA 5 60217038 60217038 single base substitution G A intron_variant PRAD-CA 5 60217038 60217038 single base substitution G A upstream_gene_variant PRAD-CA 5 60224064 60224064 single base substitution G T intron_variant PRAD-CA 5 60239698 60239698 single base substitution C G intron_variant PRAD-CA 5 60241268 60241268 single base substitution G A upstream_gene_variant PRAD-UK 5 60171433 60171433 single base substitution C T intron_variant PRAD-UK 5 60171713 60171713 single base substitution A T intron_variant PRAD-UK 5 60180072 60180072 single base substitution C T intron_variant PRAD-UK 5 60184356 60184356 single base substitution G C intron_variant PRAD-UK 5 60197366 60197366 single base substitution C A downstream_gene_variant PRAD-UK 5 60197366 60197366 single base substitution C A intron_variant PRAD-UK 5 60201360 60201360 single base substitution T C intron_variant PRAD-UK 5 60217860 60217860 single base substitution T A intron_variant PRAD-UK 5 60217860 60217860 single base substitution T A upstream_gene_variant PRAD-UK 5 60231681 60231681 single base substitution A C intron_variant PRAD-UK 5 60233266 60233266 single base substitution G C intron_variant PRAD-UK 5 60245510 60245510 single base substitution T A upstream_gene_variant RECA-EU 5 60170569 60170569 single base substitution A T intron_variant RECA-EU 5 60199645 60199645 single base substitution G A intron_variant RECA-EU 5 60199646 60199646 single base substitution C G intron_variant RECA-EU 5 60202443 60202443 single base substitution C A intron_variant RECA-EU 5 60205116 60205116 single base substitution A C intron_variant RECA-EU 5 60205116 60205116 single base substitution A C upstream_gene_variant RECA-EU 5 60218708 60218708 single base substitution G A intron_variant RECA-EU 5 60218708 60218708 single base substitution G A upstream_gene_variant RECA-EU 5 60220882 60220882 single base substitution T C intron_variant SKCA-BR 5 60166309 60166323 deletion of <=200bp TAAAAAAAAAAAAAA - downstream_gene_variant SKCA-BR 5 60167545 60167545 single base substitution G A downstream_gene_variant SKCA-BR 5 60169603 60169603 single base substitution A C downstream_gene_variant SKCA-BR 5 60172285 60172285 single base substitution G A intron_variant SKCA-BR 5 60172715 60172715 single base substitution G A intron_variant SKCA-BR 5 60174114 60174114 single base substitution G A intron_variant SKCA-BR 5 60174115 60174115 single base substitution G A intron_variant SKCA-BR 5 60175133 60175133 single base substitution G A intron_variant SKCA-BR 5 60177397 60177397 single base substitution T C intron_variant SKCA-BR 5 60177947 60177947 single base substitution C T intron_variant SKCA-BR 5 60184528 60184528 single base substitution T A intron_variant SKCA-BR 5 60185816 60185816 single base substitution G A intron_variant SKCA-BR 5 60186851 60186851 single base substitution G A 3_prime_UTR_variant SKCA-BR 5 60186851 60186851 single base substitution G A exon_variant SKCA-BR 5 60186851 60186851 single base substitution G A synonymous_variant G149G 447C>T SKCA-BR 5 60186851 60186851 single base substitution G A synonymous_variant G244G 732C>T SKCA-BR 5 60186851 60186851 single base substitution G A synonymous_variant G302G 906C>T SKCA-BR 5 60186858 60186858 single base substitution G A 3_prime_UTR_variant SKCA-BR 5 60186858 60186858 single base substitution G A exon_variant SKCA-BR 5 60186858 60186858 single base substitution G A missense_variant S147F 440C>T SKCA-BR 5 60186858 60186858 single base substitution G A missense_variant S242F 725C>T SKCA-BR 5 60186858 60186858 single base substitution G A missense_variant S300F 899C>T SKCA-BR 5 60187676 60187676 single base substitution G A intron_variant SKCA-BR 5 60188177 60188177 single base substitution T G exon_variant SKCA-BR 5 60188177 60188177 single base substitution T G intron_variant SKCA-BR 5 60189475 60189475 single base substitution G A downstream_gene_variant SKCA-BR 5 60189475 60189475 single base substitution G A intron_variant SKCA-BR 5 60189475 60189475 single base substitution G A splice_region_variant SKCA-BR 5 60189811 60189812 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 5 60189811 60189812 deletion of <=200bp CT - intron_variant SKCA-BR 5 60191669 60191669 single base substitution G A downstream_gene_variant SKCA-BR 5 60191669 60191669 single base substitution G A intron_variant SKCA-BR 5 60194419 60194419 single base substitution G A downstream_gene_variant SKCA-BR 5 60194419 60194419 single base substitution G A intron_variant SKCA-BR 5 60196505 60196505 single base substitution C T downstream_gene_variant SKCA-BR 5 60196505 60196505 single base substitution C T intron_variant SKCA-BR 5 60202557 60202561 deletion of <=200bp AAAAT - intron_variant SKCA-BR 5 60202585 60202585 single base substitution T C intron_variant SKCA-BR 5 60208630 60208630 single base substitution G A intron_variant SKCA-BR 5 60210131 60210131 single base substitution G T downstream_gene_variant SKCA-BR 5 60210131 60210131 single base substitution G T intron_variant SKCA-BR 5 60210906 60210906 single base substitution G A downstream_gene_variant SKCA-BR 5 60210906 60210906 single base substitution G A intron_variant SKCA-BR 5 60211832 60211832 single base substitution C T downstream_gene_variant SKCA-BR 5 60211832 60211832 single base substitution C T intron_variant SKCA-BR 5 60212336 60212336 single base substitution G A downstream_gene_variant SKCA-BR 5 60212336 60212336 single base substitution G A intron_variant SKCA-BR 5 60212378 60212378 single base substitution A G downstream_gene_variant SKCA-BR 5 60212378 60212378 single base substitution A G intron_variant SKCA-BR 5 60216717 60216717 single base substitution G A intron_variant SKCA-BR 5 60216717 60216717 single base substitution G A upstream_gene_variant SKCA-BR 5 60220724 60220724 single base substitution T A intron_variant SKCA-BR 5 60220725 60220725 single base substitution C T intron_variant SKCA-BR 5 60222182 60222182 single base substitution G A intron_variant SKCA-BR 5 60223995 60223995 single base substitution G A intron_variant SKCA-BR 5 60224545 60224545 single base substitution G A intron_variant SKCA-BR 5 60229049 60229049 single base substitution T C intron_variant SKCA-BR 5 60230119 60230119 single base substitution G A intron_variant SKCA-BR 5 60233229 60233229 single base substitution G A intron_variant SKCA-BR 5 60233867 60233887 deletion of <=200bp CATACATACATATATATATAT - intron_variant SKCA-BR 5 60234116 60234116 single base substitution A T intron_variant SKCA-BR 5 60234175 60234176 deletion of <=200bp GA - intron_variant SKCA-BR 5 60234879 60234879 single base substitution G A intron_variant SKCA-BR 5 60235875 60235875 single base substitution G A intron_variant SKCA-BR 5 60238059 60238059 single base substitution G A intron_variant SKCA-BR 5 60240532 60240532 insertion of <=200bp - AC intron_variant SKCA-BR 5 60243610 60243610 single base substitution A T upstream_gene_variant SKCM-US 5 60241098 60241098 single base substitution G A upstream_gene_variant STAD-US 5 60186878 60186878 deletion of <=200bp T - 3_prime_UTR_variant STAD-US 5 60186878 60186878 deletion of <=200bp T - exon_variant STAD-US 5 60186878 60186878 deletion of <=200bp T - frameshift_variant K140 STAD-US 5 60186878 60186878 deletion of <=200bp T - frameshift_variant K235 STAD-US 5 60186878 60186878 deletion of <=200bp T - frameshift_variant K293 STAD-US 5 60195478 60195478 single base substitution T C 3_prime_UTR_variant STAD-US 5 60195478 60195478 single base substitution T C downstream_gene_variant STAD-US 5 60195478 60195478 single base substitution T C exon_variant STAD-US 5 60195478 60195478 single base substitution T C missense_variant K174E 520A>G STAD-US 5 60195478 60195478 single base substitution T C missense_variant K232E 694A>G STAD-US 5 60195478 60195478 single base substitution T C missense_variant K79E 235A>G STAD-US 5 60198332 60198332 single base substitution T C 3_prime_UTR_variant STAD-US 5 60198332 60198332 single base substitution T C downstream_gene_variant STAD-US 5 60198332 60198332 single base substitution T C exon_variant STAD-US 5 60198332 60198332 single base substitution T C missense_variant H127R 380A>G STAD-US 5 60198332 60198332 single base substitution T C missense_variant H185R 554A>G STAD-US 5 60198332 60198332 single base substitution T C missense_variant H32R 95A>G STAD-US 5 60224781 60224781 deletion of <=200bp A - 5_prime_UTR_variant STAD-US 5 60224781 60224781 deletion of <=200bp A - exon_variant STAD-US 5 60224781 60224781 deletion of <=200bp A - frameshift_variant L28 THCA-SA 5 60200628 60200628 single base substitution A G 3_prime_UTR_variant THCA-SA 5 60200628 60200628 single base substitution A G exon_variant THCA-SA 5 60200628 60200628 single base substitution A G intron_variant THCA-SA 5 60200628 60200628 single base substitution A G synonymous_variant L100L 298T>C THCA-SA 5 60200628 60200628 single base substitution A G synonymous_variant L158L 472T>C THCA-SA 5 60240986 60240986 single base substitution A G upstream_gene_variant THCA-SA 5 60241142 60241142 single base substitution G A upstream_gene_variant THCA-SA 5 60241182 60241182 single base substitution T C upstream_gene_variant UCEC-US 5 60186764 60186764 single base substitution C A 3_prime_UTR_variant UCEC-US 5 60186764 60186764 single base substitution C A exon_variant UCEC-US 5 60186764 60186764 single base substitution C A missense_variant K178N 534G>T UCEC-US 5 60186764 60186764 single base substitution C A missense_variant K273N 819G>T UCEC-US 5 60186764 60186764 single base substitution C A missense_variant K331N 993G>T UCEC-US 5 60199493 60199493 single base substitution A G 3_prime_UTR_variant UCEC-US 5 60199493 60199493 single base substitution A G exon_variant UCEC-US 5 60199493 60199493 single base substitution A G intron_variant UCEC-US 5 60199493 60199493 single base substitution A G missense_variant C120R 358T>C UCEC-US 5 60199493 60199493 single base substitution A G missense_variant C178R 532T>C UCEC-US 5 60199493 60199493 single base substitution A G missense_variant C25R 73T>C UCEC-US 5 60214214 60214214 single base substitution C A missense_variant D35Y 103G>T UCEC-US 5 60214214 60214214 single base substitution C A missense_variant D93Y 277G>T UCEC-US 5 60214214 60214214 single base substitution C A splice_region_variant UCEC-US 5 60240783 60240783 single base substitution A G 5_prime_UTR_variant UCEC-US 5 60240783 60240783 single base substitution A G exon_variant UCEC-US 5 60240783 60240783 single base substitution A G missense_variant L18P 53T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AP-A051-01 COSM1069214 c.993G>T p.K331N Substitution - Missense 5:60890937-60890937 - PCSI_0083_Pa_X COSM5420384 c.880G>A p.G294R Substitution - Missense 5:60891050-60891050 - TCGA-BR-4361-01 COSM3855792 c.554A>G p.H185R Substitution - Missense 5:60902505-60902505 - TCGA-85-6561-01 COSM738437 c.781C>A p.L261I Substitution - Missense 5:60898338-60898338 - TCGA-DD-A1EB-01 COSM4928876 c.444T>C p.H148H Substitution - coding silent 5:60904829-60904829 - CHC1774T COSM4802400 c.428C>T p.T143I Substitution - Missense 5:60904845-60904845 - PT42 COSM5925159 c.1148C>T p.P383L Substitution - Missense 5:60874658-60874658 - PCA78-1 COSM5415359 c.681T>G p.D227E Substitution - Missense 5:60899664-60899664 - BN41 COSM1620439 c.891C>A p.F297L Substitution - Missense 5:60891039-60891039 - 44_T COSM3947638 c.581G>T p.W194L Substitution - Missense 5:60902478-60902478 - CACO2 COSM3345484 c.978G>C p.Q326H Substitution - Missense 5:60890952-60890952 - Gp2D COSM3345480 c.1052G>T p.S351I Substitution - Missense 5:60887510-60887510 - PD4100a COSM160835 c.381G>C p.W127C Substitution - Missense 5:60918283-60918283 - CSB1 COSM5026333 c.75G>A p.R25R Substitution - coding silent 5:60944934-60944934 - Gp5D COSM3345480 c.1052G>T p.S351I Substitution - Missense 5:60887510-60887510 - 2492716 COSM5719171 c.1137A>G p.S379S Substitution - coding silent 5:60874669-60874669 - 8064632 COSM1186771 c.803G>A p.R268Q Substitution - Missense 5:60898316-60898316 - PT08_1 COSM1620438 c.1123-3delT p.? Unknown 5:60874686-60874686 - P146 COSM1620438 c.1123-3delT p.? Unknown 5:60874686-60874686 - B104-Tumor COSM4006026 c.770G>T p.G257V Substitution - Missense 5:60898349-60898349 - CHC1774T COSM4802400 c.428C>T p.T143I Substitution - Missense 5:60904845-60904845 - TCGA-CJ-4904-01 COSM482936 c.1068C>T p.C356C Substitution - coding silent 5:60887494-60887494 - ESCC_11 COSM5624588 c.275+2T>G p.? Unknown 5:60922052-60922052 - Pat_46_B COSM5868672 c.494G>A p.G165E Substitution - Missense 5:60903704-60903704 - LUAD-NYU284 COSM373192 c.276-1G>C p.? Unknown 5:60918389-60918389 - 46M COSM5587736 c.115G>A p.E39K Substitution - Missense 5:60928922-60928922 - 2492717 COSM5719171 c.1137A>G p.S379S Substitution - coding silent 5:60874669-60874669 - SC_9008 COSM1620438 c.1123-3delT p.? Unknown 5:60874686-60874686 - YUKAT COSM5403671 c.887A>G p.K296R Substitution - Missense 5:60891043-60891043 - TCGA-BH-A0BF-01 COSM449946 c.521A>G p.K174R Substitution - Missense 5:60903677-60903677 - ASHPC_0025_Pa_P COSM4808134 c.125A>G p.H42R Substitution - Missense 5:60928912-60928912 - C058 COSM5524909 c.7G>A p.G3R Substitution - Missense 5:60945002-60945002 - 2492715 COSM5719171 c.1137A>G p.S379S Substitution - coding silent 5:60874669-60874669 - TCGA-BP-4330-01 COSM3366114 c.1082G>A p.W361* Substitution - Nonsense 5:60887480-60887480 - LC_C23 COSM1186771 c.803G>A p.R268Q Substitution - Missense 5:60898316-60898316 - HCC2998 COSM1671667 c.524C>T p.S175F Substitution - Missense 5:60903674-60903674 - C058 COSM5524908 c.8G>A p.G3E Substitution - Missense 5:60945001-60945001 - 44_T COSM3947637 c.582G>T p.W194C Substitution - Missense 5:60902477-60902477 - HN_62814 COSM122895 c.1111G>C p.D371H Substitution - Missense 5:60887451-60887451 - TCGA-AP-A0LM-01 COSM1069217 c.277G>T p.D93Y Substitution - Missense 5:60918387-60918387 - TCGA-BG-A0M4-01 COSM1069218 c.62C>T p.A21V Substitution - Missense 5:60944947-60944947 - 587284 COSM1205627 c.694A>G p.K232E Substitution - Missense 5:60899651-60899651 - 2492718 COSM5719171 c.1137A>G p.S379S Substitution - coding silent 5:60874669-60874669 - TCGA-JW-A5VJ-01 COSM4818546 c.701C>T p.S234L Substitution - Missense 5:60899644-60899644 - 587316 COSM1205626 c.607G>A p.A203T Substitution - Missense 5:60902452-60902452 - ACINAR28 COSM1620438 c.1123-3delT p.? Unknown 5:60874686-60874686 - TCGA-AP-A0LM-01 COSM1069216 c.532T>C p.C178R Substitution - Missense 5:60903666-60903666 - LUAD-NYU669 COSM375817 c.196G>T p.G66C Substitution - Missense 5:60922133-60922133 - HCC2998 COSM1671667 c.524C>T p.S175F Substitution - Missense 5:60903674-60903674 - KM12 COSM1671668 c.208C>T p.L70F Substitution - Missense 5:60922121-60922121 - 2171670 COSM1620438 c.1123-3delT p.? Unknown 5:60874686-60874686 - ESO-0125 COSM1251477 c.421G>C p.E141Q Substitution - Missense 5:60904852-60904852 - TCGA-22-5473-01 COSM738435 c.669G>C p.L223F Substitution - Missense 5:60899676-60899676 - TCGA-D1-A17M-01 COSM1069219 c.53T>C p.L18P Substitution - Missense 5:60944956-60944956 - TCGA-BI-A20A-01 COSM4820564 c.937G>A p.G313S Substitution - Missense 5:60890993-60890993 - TCGA-DD-A116-01 COSM4912283 c.268A>G p.I90V Substitution - Missense 5:60922061-60922061 - TCGA-37-5819-01 COSM738436 c.769G>T p.G257* Substitution - Nonsense 5:60898350-60898350 - STC263 COSM5061138 c.604T>G p.L202V Substitution - Missense 5:60902455-60902455 - LC_C34 COSM1186772 c.84G>T p.L28F Substitution - Missense 5:60928953-60928953 - T70 COSM1177896 c.350C>G p.S117* Substitution - Nonsense 5:60918314-60918314 - H1155 COSM1196061 c.590G>A p.R197H Substitution - Missense 5:60902469-60902469 - T263 COSM4681612 c.644A>G p.D215G Substitution - Missense 5:60899701-60899701 - PAPSPG COSM5005207 c.1004A>G p.K335R Substitution - Missense 5:60890926-60890926 - TCGA-DI-A0WH-01 COSM1069215 c.792T>C p.G264G Substitution - coding silent 5:60898327-60898327 - TCGA-CK-5916-01 COSM1438066 c.151A>G p.I51V Substitution - Missense 5:60928886-60928886 - TCGA-AM-5820-01 COSM3761270 c.435T>C p.Y145Y Substitution - coding silent 5:60904838-60904838 - BN24T COSM1620438 c.1123-3delT p.? Unknown 5:60874686-60874686 - I2L-P19Tb-Tumor-Organoid COSM5356683 c.129C>T p.G43G Substitution - coding silent 5:60928908-60928908 - 2492719 COSM5719171 c.1137A>G p.S379S Substitution - coding silent 5:60874669-60874669 - BD6T COSM1620438 c.1123-3delT p.? Unknown 5:60874686-60874686 - 345973 COSM3726454 c.192A>G p.S64S Substitution - coding silent 5:60922137-60922137 - MN-152 COSM1578642 c.124C>T p.H42Y Substitution - Missense 5:60928913-60928913 - CSCC-7-T COSM4510563 c.841C>T p.L281F Substitution - Missense 5:60898278-60898278 - 2521259 COSM5890081 c.719-8C>T p.? Unknown 5:60898408-60898408 - TCGA-BR-6452-01 COSM1205627 c.694A>G p.K232E Substitution - Missense 5:60899651-60899651 - KM12 COSM1671668 c.208C>T p.L70F Substitution - Missense 5:60922121-60922121 - S00501 COSM5658491 c.1123-4_1123-3delTT p.? Unknown 5:60874686-60874687 - BN41T COSM1620439 c.891C>A p.F297L Substitution - Missense 5:60891039-60891039 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.435235;Hs.435237 5q12.1 609412 2409966|CGAP|BC009793|C/T|coding|Tyr145Tyr|481|Validated; 2464968|dbSNP|BC009793|A/G|coding|His156Arg|513|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.L18P c.53T>C 5 60240783 UCEC C A Missense p.R197L c.590G>T 5 60198296 CM C A Nonsense p.G257* c.769G>T 5 60194177 LUSC C G Missense p.D371H c.1111G>C 5 60183278 HNSC C G Missense p.E141Q c.421G>C 5 60200679 ESCA C G Missense p.E374Q c.1120G>C 5 60183269 HNSC C G Missense p.L223F c.669G>C 5 60195503 LUSC C G Missense p.W127C c.381G>C 5 60214110 BRCA C T Missense p.R210K c.629G>A 5 60195543 CM C T Nonsense p.W361* c.1082G>A 5 60183307 RCCC C T Synonymous p.R25R c.75G>A 5 60240761 BRCA G A IntronicSNV . c.844-1540C>T 5 60188453 CM G A IntronicSNV . c.844-1733C>T 5 60188646 CM G A IntronicSNV . c.844-1977C>T 5 60188890 CM G A IntronicSNV . c.844-959C>T 5 60187872 CM G A Missense p.P383S c.1147C>T 5 60170486 CM G A Missense p.S179F c.536C>T 5 60199489 HNSC G T IntronicSNV . c.844-2399C>A 5 60189312 CM G T Missense p.L261I c.781C>A 5 60194165 LUSC T C 3-UTRSNV . c.1188+79A>G 5 60170366 RCCC T C IntronicSNV . c.844-1236A>G 5 60188149 NSCLC T C IntronicSNV . c.844-2331A>G 5 60189244 ESCA T C IntronicSNV . c.844-2352A>G 5 60189265 HC T C Missense p.K174R c.521A>G 5 60199504 BRCA T G IntronicSNV . c.844-1634A>C 5 60188547 RCCC