Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 36785375 36785376 + Frame_Shift_Ins INS - - C TCGA-XF-AAN5-01A-11D-A42E-08 TCGA-XF-AAN5-10A-01D-A42H-08 g.chr1:36785375_36785376insC c.763_764insC c.(763-765)gccfs p.A255fs BLCA 1 36785787 36785787 + Missense_Mutation SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 g.chr1:36785787C>T c.1175C>T c.(1174-1176)tCg>tTg p.S392L BLCA 1 36786244 36786244 + Missense_Mutation SNP C C G TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr1:36786244C>G c.1632C>G c.(1630-1632)atC>atG p.I544M BRCA 1 36773133 36773133 + Intron SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr1:36773133T>G BRCA 1 36785498 36785498 + Missense_Mutation SNP A A G TCGA-BH-A1EY-01A-11D-A13L-09 TCGA-BH-A1EY-11B-21D-A188-09 g.chr1:36785498A>G c.886A>G c.(886-888)Aaa>Gaa p.K296E CESC 1 36784876 36784876 + Silent SNP C C T TCGA-FU-A770-01A-11D-A33O-09 TCGA-FU-A770-10A-01D-A33O-09 g.chr1:36784876C>T c.531C>T c.(529-531)ccC>ccT p.P177P CESC 1 36785319 36785319 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr1:36785319G>A c.707G>A c.(706-708)aGa>aAa p.R236K CESC 1 36786140 36786142 + In_Frame_Del DEL GAG GAG - TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr1:36786140_36786142delGAG c.1528_1530delGAG c.(1528-1530)gagdel p.E511del CESC 1 36786216 36786216 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 g.chr1:36786216G>C c.1604G>C c.(1603-1605)aGa>aCa p.R535T COAD 1 36772790 36772790 + 5'UTR SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:36772790G>A COAD 1 36773789 36773789 + Silent SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr1:36773789C>T c.270C>T c.(268-270)gaC>gaT p.D90D COAD 1 36785362 36785362 + Silent SNP A A G TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:36785362A>G c.750A>G c.(748-750)ccA>ccG p.P250P COAD 1 36785422 36785422 + Silent SNP A A G TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:36785422A>G c.810A>G c.(808-810)ccA>ccG p.P270P COAD 1 36785450 36785450 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:36785450G>T c.838G>T c.(838-840)Gcc>Tcc p.A280S COAD 1 36785677 36785677 + Silent SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:36785677G>A c.1065G>A c.(1063-1065)aaG>aaA p.K355K COAD 1 36785773 36785773 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:36785773C>A c.1161C>A c.(1159-1161)ttC>ttA p.F387L COAD 1 36785906 36785906 + Missense_Mutation SNP G G A TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr1:36785906G>A c.1294G>A c.(1294-1296)Gga>Aga p.G432R COAD 1 36786004 36786004 + Frame_Shift_Del DEL C C - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr1:36786004delC c.1392delC c.(1390-1392)cacfs p.H464fs COAD 1 36786203 36786203 + Frame_Shift_Del DEL C C - TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr1:36786203delC c.1591delC c.(1591-1593)cccfs p.P532fs COAD 1 36786249 36786249 + Missense_Mutation SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr1:36786249C>T c.1637C>T c.(1636-1638)cCg>cTg p.P546L COAD 1 36786270 36786270 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr1:36786270C>T c.1658C>T c.(1657-1659)aCg>aTg p.T553M COAD 1 36786276 36786276 + Missense_Mutation SNP C C T TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr1:36786276C>T c.1664C>T c.(1663-1665)gCg>gTg p.A555V COAD 1 36786349 36786350 + In_Frame_Ins INS - - GAG TCGA-AA-3549-01A-02W-0831-10 TCGA-AA-3549-10A-01W-0831-10 g.chr1:36786349_36786350insGAG c.1737_1738insGAG c.(1738-1740)gag>GAGgag p.580_580E>EE COAD 1 36786720 36786720 + Missense_Mutation SNP A A G TCGA-AZ-6600-01A-11D-1771-10 TCGA-AZ-6600-11A-01D-1771-10 g.chr1:36786720A>G c.1915A>G c.(1915-1917)Acc>Gcc p.T639A COADREAD 1 36772790 36772790 + 5'UTR SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:36772790G>A COADREAD 1 36773789 36773789 + Silent SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr1:36773789C>T c.270C>T c.(268-270)gaC>gaT p.D90D COADREAD 1 36785362 36785362 + Silent SNP A A G TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:36785362A>G c.750A>G c.(748-750)ccA>ccG p.P250P COADREAD 1 36785422 36785422 + Silent SNP A A G TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:36785422A>G c.810A>G c.(808-810)ccA>ccG p.P270P COADREAD 1 36785450 36785450 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:36785450G>T c.838G>T c.(838-840)Gcc>Tcc p.A280S COADREAD 1 36785677 36785677 + Silent SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:36785677G>A c.1065G>A c.(1063-1065)aaG>aaA p.K355K COADREAD 1 36785773 36785773 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:36785773C>A c.1161C>A c.(1159-1161)ttC>ttA p.F387L COADREAD 1 36785906 36785906 + Missense_Mutation SNP G G A TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr1:36785906G>A c.1294G>A c.(1294-1296)Gga>Aga p.G432R COADREAD 1 36786004 36786004 + Frame_Shift_Del DEL C C - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr1:36786004delC c.1392delC c.(1390-1392)cacfs p.H464fs COADREAD 1 36786203 36786203 + Frame_Shift_Del DEL C C - TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr1:36786203delC c.1591delC c.(1591-1593)cccfs p.P532fs COADREAD 1 36786249 36786249 + Missense_Mutation SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr1:36786249C>T c.1637C>T c.(1636-1638)cCg>cTg p.P546L COADREAD 1 36786270 36786270 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr1:36786270C>T c.1658C>T c.(1657-1659)aCg>aTg p.T553M COADREAD 1 36786276 36786276 + Missense_Mutation SNP C C T TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr1:36786276C>T c.1664C>T c.(1663-1665)gCg>gTg p.A555V COADREAD 1 36786349 36786350 + In_Frame_Ins INS - - GAG TCGA-AA-3549-01A-02W-0831-10 TCGA-AA-3549-10A-01W-0831-10 g.chr1:36786349_36786350insGAG c.1737_1738insGAG c.(1738-1740)gag>GAGgag p.580_580E>EE COADREAD 1 36786720 36786720 + Missense_Mutation SNP A A G TCGA-AZ-6600-01A-11D-1771-10 TCGA-AZ-6600-11A-01D-1771-10 g.chr1:36786720A>G c.1915A>G c.(1915-1917)Acc>Gcc p.T639A ESCA 1 36785719 36785719 + Silent SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 g.chr1:36785719C>T c.1107C>T c.(1105-1107)gtC>gtT p.V369V GBMLGG 1 36785522 36785522 + Missense_Mutation SNP G G A TCGA-HT-A616-01A-11D-A29Q-08 TCGA-HT-A616-10A-01D-A29Q-08 g.chr1:36785522G>A c.910G>A c.(910-912)Gtg>Atg p.V304M HNSC 1 36785374 36785374 + Silent SNP C C T TCGA-CV-7263-01A-11D-2012-08 TCGA-CV-7263-10A-01D-2013-08 g.chr1:36785374C>T c.762C>T c.(760-762)aaC>aaT p.N254N HNSC 1 36785434 36785434 + Silent SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 g.chr1:36785434C>T c.822C>T c.(820-822)ctC>ctT p.L274L HNSC 1 36785936 36785936 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 g.chr1:36785936G>A c.1324G>A c.(1324-1326)Gac>Aac p.D442N KIPAN 1 36773209 36773209 + Intron SNP G G A TCGA-PJ-A8JU-01A-11D-A35Z-10 TCGA-PJ-A8JU-10A-01D-A35Z-10 g.chr1:36773209G>A KIRP 1 36773209 36773209 + Intron SNP G G A TCGA-PJ-A8JU-01A-11D-A35Z-10 TCGA-PJ-A8JU-10A-01D-A35Z-10 g.chr1:36773209G>A LGG 1 36785522 36785522 + Missense_Mutation SNP G G A TCGA-HT-A616-01A-11D-A29Q-08 TCGA-HT-A616-10A-01D-A29Q-08 g.chr1:36785522G>A c.910G>A c.(910-912)Gtg>Atg p.V304M LIHC 1 36785322 36785322 + Frame_Shift_Del DEL C C - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr1:36785322delC c.710delC c.(709-711)accfs p.T237fs LIHC 1 36785547 36785547 + Missense_Mutation SNP T T C TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr1:36785547T>C c.935T>C c.(934-936)aTc>aCc p.I312T LIHC 1 36786280 36786280 + Silent SNP C C T TCGA-2V-A95S-01A-11D-A36X-10 TCGA-2V-A95S-10D-01D-A370-10 g.chr1:36786280C>T c.1668C>T c.(1666-1668)ctC>ctT p.L556L LUAD 1 36785304 36785304 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr1:36785304C>T c.692C>T c.(691-693)gCc>gTc p.A231V LUAD 1 36785389 36785389 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 g.chr1:36785389G>A c.777G>A c.(775-777)aaG>aaA p.K259K LUAD 1 36785482 36785482 + Missense_Mutation SNP G G T TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chr1:36785482G>T c.870G>T c.(868-870)aaG>aaT p.K290N LUAD 1 36785751 36785751 + Missense_Mutation SNP C C A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 g.chr1:36785751C>A c.1139C>A c.(1138-1140)tCc>tAc p.S380Y LUAD 1 36786094 36786094 + Missense_Mutation SNP G G T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr1:36786094G>T c.1482G>T c.(1480-1482)agG>agT p.R494S LUAD 1 36786257 36786257 + Missense_Mutation SNP G G T TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 g.chr1:36786257G>T c.1645G>T c.(1645-1647)Gac>Tac p.D549Y LUAD 1 36786292 36786292 + Silent SNP C C A TCGA-67-4679-01B-01D-1753-08 TCGA-67-4679-10A-01D-1753-08 g.chr1:36786292C>A c.1680C>A c.(1678-1680)gtC>gtA p.V560V LUSC 1 36785735 36785735 + Missense_Mutation SNP T T G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr1:36785735T>G c.1123T>G c.(1123-1125)Tct>Gct p.S375A PCPG 1 36786147 36786147 + Missense_Mutation SNP T T C TCGA-PR-A5PG-01A-11D-A35D-08 TCGA-PR-A5PG-10A-01D-A35B-08 g.chr1:36786147T>C c.1535T>C c.(1534-1536)gTg>gCg p.V512A PRAD 1 36786088 36786088 + Silent SNP G G A TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 g.chr1:36786088G>A c.1476G>A c.(1474-1476)gaG>gaA p.E492E SARC 1 36784742 36784742 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr1:36784742C>T c.492C>T c.(490-492)gcC>gcT p.A164A SKCM 1 36785831 36785831 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr1:36785831G>A c.1219G>A c.(1219-1221)Gat>Aat p.D407N SKCM 1 36785872 36785872 + Silent SNP C C T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr1:36785872C>T c.1260C>T c.(1258-1260)ccC>ccT p.P420P SKCM 1 36786005 36786005 + Missense_Mutation SNP C C T TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr1:36786005C>T c.1393C>T c.(1393-1395)Ccc>Tcc p.P465S SKCM 1 36786171 36786171 + Missense_Mutation SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr1:36786171C>T c.1559C>T c.(1558-1560)cCt>cTt p.P520L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 36767173 36767173 single base substitution G C upstream_gene_variant BLCA-CN 1 36767185 36767185 single base substitution G C upstream_gene_variant BLCA-US 1 36769407 36769407 single base substitution G A upstream_gene_variant BLCA-US 1 36788636 36788636 single base substitution C T downstream_gene_variant BLCA-US 1 36788636 36788636 single base substitution C T intron_variant BOCA-FR 1 36781320 36781320 single base substitution C T intron_variant BOCA-FR 1 36781320 36781320 single base substitution C T upstream_gene_variant BRCA-EU 1 36767765 36767765 single base substitution A G upstream_gene_variant BRCA-EU 1 36769302 36769302 single base substitution C A upstream_gene_variant BRCA-EU 1 36769466 36769466 single base substitution C T upstream_gene_variant BRCA-EU 1 36770439 36770439 single base substitution G T upstream_gene_variant BRCA-EU 1 36770917 36770917 single base substitution A T upstream_gene_variant BRCA-EU 1 36773161 36773161 single base substitution G A 5_prime_UTR_variant BRCA-EU 1 36773161 36773161 single base substitution G A exon_variant BRCA-EU 1 36773161 36773161 single base substitution G A intron_variant BRCA-EU 1 36773161 36773161 single base substitution G A missense_variant G130E 389G>A BRCA-EU 1 36773161 36773161 single base substitution G A missense_variant G19E 56G>A BRCA-EU 1 36773847 36773847 single base substitution C T intron_variant BRCA-EU 1 36776516 36776516 single base substitution T G downstream_gene_variant BRCA-EU 1 36776516 36776516 single base substitution T G intron_variant BRCA-EU 1 36777016 36777016 single base substitution T C downstream_gene_variant BRCA-EU 1 36777016 36777016 single base substitution T C intron_variant BRCA-EU 1 36777515 36777515 single base substitution C A downstream_gene_variant BRCA-EU 1 36777515 36777515 single base substitution C A intron_variant BRCA-EU 1 36777912 36777912 single base substitution C T downstream_gene_variant BRCA-EU 1 36777912 36777912 single base substitution C T intron_variant BRCA-EU 1 36778629 36778629 single base substitution T G downstream_gene_variant BRCA-EU 1 36778629 36778629 single base substitution T G intron_variant BRCA-EU 1 36780864 36780864 single base substitution G C intron_variant BRCA-EU 1 36780864 36780864 single base substitution G C upstream_gene_variant BRCA-EU 1 36781380 36781380 single base substitution C G intron_variant BRCA-EU 1 36781380 36781380 single base substitution C G upstream_gene_variant BRCA-EU 1 36781388 36781388 single base substitution C T intron_variant BRCA-EU 1 36781388 36781388 single base substitution C T upstream_gene_variant BRCA-EU 1 36783169 36783169 single base substitution T C intron_variant BRCA-EU 1 36783169 36783169 single base substitution T C upstream_gene_variant BRCA-EU 1 36783330 36783330 single base substitution A T intron_variant BRCA-EU 1 36783330 36783330 single base substitution A T upstream_gene_variant BRCA-EU 1 36785454 36785454 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 36785454 36785454 single base substitution C T downstream_gene_variant BRCA-EU 1 36785454 36785454 single base substitution C T exon_variant BRCA-EU 1 36785454 36785454 single base substitution C T missense_variant S281F 842C>T BRCA-EU 1 36785454 36785454 single base substitution C T missense_variant S286F 857C>T BRCA-EU 1 36785454 36785454 single base substitution C T missense_variant S397F 1190C>T BRCA-EU 1 36785454 36785454 single base substitution C T missense_variant S43F 128C>T BRCA-EU 1 36785454 36785454 single base substitution C T upstream_gene_variant BRCA-EU 1 36786775 36786775 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 36786775 36786775 single base substitution C G downstream_gene_variant BRCA-EU 1 36786775 36786775 single base substitution C G exon_variant BRCA-EU 1 36787434 36787434 single base substitution C G downstream_gene_variant BRCA-EU 1 36787434 36787434 single base substitution C G intron_variant BRCA-EU 1 36788475 36788475 single base substitution G A downstream_gene_variant BRCA-EU 1 36788475 36788475 single base substitution G A intron_variant BRCA-EU 1 36789358 36789358 single base substitution C A downstream_gene_variant BRCA-EU 1 36789358 36789358 single base substitution C A intron_variant BRCA-EU 1 36792367 36792367 single base substitution G C downstream_gene_variant BRCA-EU 1 36793339 36793339 single base substitution C A downstream_gene_variant BRCA-EU 1 36793821 36793821 single base substitution G C downstream_gene_variant BRCA-EU 1 36794433 36794433 single base substitution C T downstream_gene_variant BRCA-EU 1 36794448 36794448 single base substitution C T downstream_gene_variant BRCA-FR 1 36769302 36769302 single base substitution C A upstream_gene_variant BRCA-KR 1 36784849 36784849 single base substitution G A intron_variant BRCA-KR 1 36784849 36784849 single base substitution G A upstream_gene_variant BRCA-UK 1 36781388 36781388 single base substitution C T intron_variant BRCA-UK 1 36781388 36781388 single base substitution C T upstream_gene_variant BRCA-UK 1 36784744 36784744 single base substitution C A 5_prime_UTR_variant BRCA-UK 1 36784744 36784744 single base substitution C A exon_variant BRCA-UK 1 36784744 36784744 single base substitution C A missense_variant T165N 494C>A BRCA-UK 1 36784744 36784744 single base substitution C A missense_variant T170N 509C>A BRCA-UK 1 36784744 36784744 single base substitution C A missense_variant T281N 842C>A BRCA-UK 1 36784744 36784744 single base substitution C A upstream_gene_variant BRCA-UK 1 36794448 36794448 single base substitution C T downstream_gene_variant BRCA-US 1 36773133 36773133 single base substitution T G 5_prime_UTR_variant BRCA-US 1 36773133 36773133 single base substitution T G exon_variant BRCA-US 1 36773133 36773133 single base substitution T G intron_variant BRCA-US 1 36773133 36773133 single base substitution T G missense_variant W10G 28T>G BRCA-US 1 36773133 36773133 single base substitution T G missense_variant W121G 361T>G BRCA-US 1 36785498 36785498 single base substitution A G 3_prime_UTR_variant BRCA-US 1 36785498 36785498 single base substitution A G downstream_gene_variant BRCA-US 1 36785498 36785498 single base substitution A G exon_variant BRCA-US 1 36785498 36785498 single base substitution A G missense_variant K296E 886A>G BRCA-US 1 36785498 36785498 single base substitution A G missense_variant K301E 901A>G BRCA-US 1 36785498 36785498 single base substitution A G missense_variant K412E 1234A>G BRCA-US 1 36785498 36785498 single base substitution A G missense_variant K58E 172A>G BRCA-US 1 36785498 36785498 single base substitution A G upstream_gene_variant BTCA-JP 1 36772051 36772052 deletion of <=200bp CT - intron_variant BTCA-JP 1 36772051 36772052 deletion of <=200bp CT - upstream_gene_variant BTCA-JP 1 36785325 36785325 single base substitution C A 3_prime_UTR_variant BTCA-JP 1 36785325 36785325 single base substitution C A 5_prime_UTR_variant BTCA-JP 1 36785325 36785325 single base substitution C A exon_variant BTCA-JP 1 36785325 36785325 single base substitution C A missense_variant P238H 713C>A BTCA-JP 1 36785325 36785325 single base substitution C A missense_variant P243H 728C>A BTCA-JP 1 36785325 36785325 single base substitution C A missense_variant P354H 1061C>A BTCA-JP 1 36785325 36785325 single base substitution C A upstream_gene_variant BTCA-JP 1 36786555 36786555 single base substitution G C 3_prime_UTR_variant BTCA-JP 1 36786555 36786555 single base substitution G C downstream_gene_variant BTCA-JP 1 36786555 36786555 single base substitution G C exon_variant BTCA-JP 1 36786555 36786555 single base substitution G C missense_variant E371D 1113G>C BTCA-JP 1 36786555 36786555 single base substitution G C missense_variant E609D 1827G>C BTCA-JP 1 36786555 36786555 single base substitution G C missense_variant E614D 1842G>C BTCA-JP 1 36786555 36786555 single base substitution G C missense_variant E725D 2175G>C CESC-US 1 36784876 36784876 single base substitution C T 5_prime_UTR_variant CESC-US 1 36784876 36784876 single base substitution C T exon_variant CESC-US 1 36784876 36784876 single base substitution C T intron_variant CESC-US 1 36784876 36784876 single base substitution C T synonymous_variant P177P 531C>T CESC-US 1 36784876 36784876 single base substitution C T synonymous_variant P182P 546C>T CESC-US 1 36784876 36784876 single base substitution C T synonymous_variant P293P 879C>T CESC-US 1 36784876 36784876 single base substitution C T upstream_gene_variant CESC-US 1 36785319 36785319 single base substitution G A 3_prime_UTR_variant CESC-US 1 36785319 36785319 single base substitution G A 5_prime_UTR_variant CESC-US 1 36785319 36785319 single base substitution G A exon_variant CESC-US 1 36785319 36785319 single base substitution G A missense_variant R236K 707G>A CESC-US 1 36785319 36785319 single base substitution G A missense_variant R241K 722G>A CESC-US 1 36785319 36785319 single base substitution G A missense_variant R352K 1055G>A CESC-US 1 36785319 36785319 single base substitution G A upstream_gene_variant CESC-US 1 36786140 36786142 deletion of <=200bp GAG - 3_prime_UTR_variant CESC-US 1 36786140 36786142 deletion of <=200bp GAG - downstream_gene_variant CESC-US 1 36786140 36786142 deletion of <=200bp GAG - exon_variant CESC-US 1 36786140 36786142 deletion of <=200bp GAG - inframe_deletion E272 CESC-US 1 36786140 36786142 deletion of <=200bp GAG - inframe_deletion E510 CESC-US 1 36786140 36786142 deletion of <=200bp GAG - inframe_deletion E515 CESC-US 1 36786140 36786142 deletion of <=200bp GAG - inframe_deletion E626 CESC-US 1 36786216 36786216 single base substitution G C 3_prime_UTR_variant CESC-US 1 36786216 36786216 single base substitution G C downstream_gene_variant CESC-US 1 36786216 36786216 single base substitution G C exon_variant CESC-US 1 36786216 36786216 single base substitution G C missense_variant R297T 890G>C CESC-US 1 36786216 36786216 single base substitution G C missense_variant R535T 1604G>C CESC-US 1 36786216 36786216 single base substitution G C missense_variant R540T 1619G>C CESC-US 1 36786216 36786216 single base substitution G C missense_variant R651T 1952G>C CESC-US 1 36793686 36793686 single base substitution C T downstream_gene_variant CLLE-ES 1 36777428 36777428 single base substitution G A downstream_gene_variant CLLE-ES 1 36777428 36777428 single base substitution G A intron_variant COAD-US 1 36772790 36772790 single base substitution G A 5_prime_UTR_variant COAD-US 1 36772790 36772790 single base substitution G A exon_variant COAD-US 1 36772790 36772790 single base substitution G A synonymous_variant R83R 249G>A COAD-US 1 36773789 36773789 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COAD-US 1 36773789 36773789 single base substitution C T intron_variant COAD-US 1 36773789 36773789 single base substitution C T synonymous_variant D206D 618C>T COAD-US 1 36773789 36773789 single base substitution C T synonymous_variant D90D 270C>T COAD-US 1 36773789 36773789 single base substitution C T synonymous_variant D95D 285C>T COAD-US 1 36785374 36785374 single base substitution C T 3_prime_UTR_variant COAD-US 1 36785374 36785374 single base substitution C T exon_variant COAD-US 1 36785374 36785374 single base substitution C T synonymous_variant N16N 48C>T COAD-US 1 36785374 36785374 single base substitution C T synonymous_variant N254N 762C>T COAD-US 1 36785374 36785374 single base substitution C T synonymous_variant N259N 777C>T COAD-US 1 36785374 36785374 single base substitution C T synonymous_variant N370N 1110C>T COAD-US 1 36785374 36785374 single base substitution C T upstream_gene_variant COAD-US 1 36785677 36785677 single base substitution G A 3_prime_UTR_variant COAD-US 1 36785677 36785677 single base substitution G A downstream_gene_variant COAD-US 1 36785677 36785677 single base substitution G A exon_variant COAD-US 1 36785677 36785677 single base substitution G A synonymous_variant K117K 351G>A COAD-US 1 36785677 36785677 single base substitution G A synonymous_variant K355K 1065G>A COAD-US 1 36785677 36785677 single base substitution G A synonymous_variant K360K 1080G>A COAD-US 1 36785677 36785677 single base substitution G A synonymous_variant K471K 1413G>A COAD-US 1 36785906 36785906 single base substitution G A 3_prime_UTR_variant COAD-US 1 36785906 36785906 single base substitution G A downstream_gene_variant COAD-US 1 36785906 36785906 single base substitution G A exon_variant COAD-US 1 36785906 36785906 single base substitution G A missense_variant G194R 580G>A COAD-US 1 36785906 36785906 single base substitution G A missense_variant G432R 1294G>A COAD-US 1 36785906 36785906 single base substitution G A missense_variant G437R 1309G>A COAD-US 1 36785906 36785906 single base substitution G A missense_variant G548R 1642G>A COAD-US 1 36786004 36786004 deletion of <=200bp C - 3_prime_UTR_variant COAD-US 1 36786004 36786004 deletion of <=200bp C - downstream_gene_variant COAD-US 1 36786004 36786004 deletion of <=200bp C - exon_variant COAD-US 1 36786004 36786004 deletion of <=200bp C - frameshift_variant H226 COAD-US 1 36786004 36786004 deletion of <=200bp C - frameshift_variant H464 COAD-US 1 36786004 36786004 deletion of <=200bp C - frameshift_variant H469 COAD-US 1 36786004 36786004 deletion of <=200bp C - frameshift_variant H580 COAD-US 1 36786203 36786203 deletion of <=200bp C - 3_prime_UTR_variant COAD-US 1 36786203 36786203 deletion of <=200bp C - downstream_gene_variant COAD-US 1 36786203 36786203 deletion of <=200bp C - exon_variant COAD-US 1 36786203 36786203 deletion of <=200bp C - frameshift_variant P293 COAD-US 1 36786203 36786203 deletion of <=200bp C - frameshift_variant P531 COAD-US 1 36786203 36786203 deletion of <=200bp C - frameshift_variant P536 COAD-US 1 36786203 36786203 deletion of <=200bp C - frameshift_variant P647 COAD-US 1 36786249 36786249 single base substitution C T 3_prime_UTR_variant COAD-US 1 36786249 36786249 single base substitution C T downstream_gene_variant COAD-US 1 36786249 36786249 single base substitution C T exon_variant COAD-US 1 36786249 36786249 single base substitution C T missense_variant P308L 923C>T COAD-US 1 36786249 36786249 single base substitution C T missense_variant P546L 1637C>T COAD-US 1 36786249 36786249 single base substitution C T missense_variant P551L 1652C>T COAD-US 1 36786249 36786249 single base substitution C T missense_variant P662L 1985C>T COAD-US 1 36786270 36786270 single base substitution C T 3_prime_UTR_variant COAD-US 1 36786270 36786270 single base substitution C T downstream_gene_variant COAD-US 1 36786270 36786270 single base substitution C T exon_variant COAD-US 1 36786270 36786270 single base substitution C T missense_variant T315M 944C>T COAD-US 1 36786270 36786270 single base substitution C T missense_variant T553M 1658C>T COAD-US 1 36786270 36786270 single base substitution C T missense_variant T558M 1673C>T COAD-US 1 36786270 36786270 single base substitution C T missense_variant T669M 2006C>T COAD-US 1 36786720 36786720 single base substitution A G 3_prime_UTR_variant COAD-US 1 36786720 36786720 single base substitution A G downstream_gene_variant COAD-US 1 36786720 36786720 single base substitution A G exon_variant COAD-US 1 36786720 36786720 single base substitution A G missense_variant T401A 1201A>G COAD-US 1 36786720 36786720 single base substitution A G missense_variant T639A 1915A>G COAD-US 1 36786720 36786720 single base substitution A G missense_variant T644A 1930A>G COAD-US 1 36786720 36786720 single base substitution A G missense_variant T755A 2263A>G COAD-US 1 36788318 36788318 single base substitution C T downstream_gene_variant COAD-US 1 36788318 36788318 single base substitution C T intron_variant COAD-US 1 36788583 36788583 single base substitution G A downstream_gene_variant COAD-US 1 36788583 36788583 single base substitution G A intron_variant COCA-CN 1 36772966 36772966 single base substitution T C intron_variant COCA-CN 1 36773647 36773647 single base substitution T C intron_variant COCA-CN 1 36773739 36773739 single base substitution T C 5_prime_UTR_variant COCA-CN 1 36773739 36773739 single base substitution T C intron_variant COCA-CN 1 36773739 36773739 single base substitution T C missense_variant F190L 568T>C COCA-CN 1 36773739 36773739 single base substitution T C missense_variant F74L 220T>C COCA-CN 1 36773739 36773739 single base substitution T C missense_variant F79L 235T>C COCA-CN 1 36784632 36784632 single base substitution G A intron_variant COCA-CN 1 36784632 36784632 single base substitution G A upstream_gene_variant COCA-CN 1 36785120 36785120 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 1 36785120 36785120 single base substitution C T intron_variant COCA-CN 1 36785120 36785120 single base substitution C T missense_variant R216C 646C>T COCA-CN 1 36785120 36785120 single base substitution C T missense_variant R221C 661C>T COCA-CN 1 36785120 36785120 single base substitution C T missense_variant R332C 994C>T COCA-CN 1 36785120 36785120 single base substitution C T upstream_gene_variant COCA-CN 1 36788230 36788230 single base substitution G A 3_prime_UTR_variant COCA-CN 1 36788230 36788230 single base substitution G A downstream_gene_variant COCA-CN 1 36788230 36788230 single base substitution G A exon_variant ESAD-UK 1 36768141 36768141 single base substitution T A upstream_gene_variant ESAD-UK 1 36769562 36769562 single base substitution G A upstream_gene_variant ESAD-UK 1 36775569 36775569 insertion of <=200bp - G downstream_gene_variant ESAD-UK 1 36775569 36775569 insertion of <=200bp - G intron_variant ESAD-UK 1 36777585 36777585 single base substitution G A downstream_gene_variant ESAD-UK 1 36777585 36777585 single base substitution G A intron_variant ESAD-UK 1 36777974 36777974 single base substitution C T downstream_gene_variant ESAD-UK 1 36777974 36777974 single base substitution C T intron_variant ESAD-UK 1 36778387 36778387 single base substitution C T downstream_gene_variant ESAD-UK 1 36778387 36778387 single base substitution C T intron_variant ESAD-UK 1 36779018 36779018 deletion of <=200bp T - downstream_gene_variant ESAD-UK 1 36779018 36779018 deletion of <=200bp T - intron_variant ESAD-UK 1 36783227 36783227 single base substitution G A intron_variant ESAD-UK 1 36783227 36783227 single base substitution G A upstream_gene_variant ESAD-UK 1 36783362 36783362 single base substitution A C intron_variant ESAD-UK 1 36783362 36783362 single base substitution A C upstream_gene_variant ESAD-UK 1 36783432 36783432 single base substitution C T intron_variant ESAD-UK 1 36783432 36783432 single base substitution C T upstream_gene_variant ESAD-UK 1 36783995 36783995 single base substitution G T intron_variant ESAD-UK 1 36783995 36783995 single base substitution G T upstream_gene_variant ESAD-UK 1 36784029 36784029 single base substitution T C intron_variant ESAD-UK 1 36784029 36784029 single base substitution T C upstream_gene_variant ESAD-UK 1 36786286 36786286 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 36786286 36786286 single base substitution G A downstream_gene_variant ESAD-UK 1 36786286 36786286 single base substitution G A exon_variant ESAD-UK 1 36786286 36786286 single base substitution G A synonymous_variant S320S 960G>A ESAD-UK 1 36786286 36786286 single base substitution G A synonymous_variant S558S 1674G>A ESAD-UK 1 36786286 36786286 single base substitution G A synonymous_variant S563S 1689G>A ESAD-UK 1 36786286 36786286 single base substitution G A synonymous_variant S674S 2022G>A ESAD-UK 1 36789441 36789441 single base substitution C T downstream_gene_variant ESAD-UK 1 36789441 36789441 single base substitution C T exon_variant ESAD-UK 1 36789441 36789441 single base substitution C T intron_variant ESAD-UK 1 36791415 36791415 single base substitution G A downstream_gene_variant ESAD-UK 1 36792047 36792047 single base substitution G C downstream_gene_variant ESAD-UK 1 36794138 36794138 single base substitution G A downstream_gene_variant ESAD-UK 1 36794510 36794510 single base substitution G C downstream_gene_variant ESAD-UK 1 36795228 36795228 single base substitution C T downstream_gene_variant ESAD-UK 1 36795425 36795425 single base substitution G A downstream_gene_variant ESCA-CN 1 36772202 36772202 single base substitution T C 5_prime_UTR_variant ESCA-CN 1 36772202 36772202 single base substitution T C missense_variant V3A 8T>C ESCA-CN 1 36772202 36772202 single base substitution T C upstream_gene_variant KIRP-US 1 36767245 36767245 deletion of <=200bp G - upstream_gene_variant LAML-CN 1 36786275 36786275 single base substitution G C 3_prime_UTR_variant LAML-CN 1 36786275 36786275 single base substitution G C downstream_gene_variant LAML-CN 1 36786275 36786275 single base substitution G C exon_variant LAML-CN 1 36786275 36786275 single base substitution G C missense_variant A317P 949G>C LAML-CN 1 36786275 36786275 single base substitution G C missense_variant A555P 1663G>C LAML-CN 1 36786275 36786275 single base substitution G C missense_variant A560P 1678G>C LAML-CN 1 36786275 36786275 single base substitution G C missense_variant A671P 2011G>C LGG-US 1 36785522 36785522 single base substitution G A 3_prime_UTR_variant LGG-US 1 36785522 36785522 single base substitution G A downstream_gene_variant LGG-US 1 36785522 36785522 single base substitution G A exon_variant LGG-US 1 36785522 36785522 single base substitution G A missense_variant V304M 910G>A LGG-US 1 36785522 36785522 single base substitution G A missense_variant V309M 925G>A LGG-US 1 36785522 36785522 single base substitution G A missense_variant V420M 1258G>A LGG-US 1 36785522 36785522 single base substitution G A missense_variant V66M 196G>A LGG-US 1 36785522 36785522 single base substitution G A upstream_gene_variant LICA-CN 1 36773783 36773783 single base substitution G T 5_prime_UTR_variant LICA-CN 1 36773783 36773783 single base substitution G T intron_variant LICA-CN 1 36773783 36773783 single base substitution G T missense_variant R204S 612G>T LICA-CN 1 36773783 36773783 single base substitution G T missense_variant R88S 264G>T LICA-CN 1 36773783 36773783 single base substitution G T missense_variant R93S 279G>T LICA-CN 1 36785446 36785446 single base substitution C A 3_prime_UTR_variant LICA-CN 1 36785446 36785446 single base substitution C A downstream_gene_variant LICA-CN 1 36785446 36785446 single base substitution C A exon_variant LICA-CN 1 36785446 36785446 single base substitution C A missense_variant D278E 834C>A LICA-CN 1 36785446 36785446 single base substitution C A missense_variant D283E 849C>A LICA-CN 1 36785446 36785446 single base substitution C A missense_variant D394E 1182C>A LICA-CN 1 36785446 36785446 single base substitution C A missense_variant D40E 120C>A LICA-CN 1 36785446 36785446 single base substitution C A upstream_gene_variant LICA-FR 1 36777942 36777942 single base substitution T G downstream_gene_variant LICA-FR 1 36777942 36777942 single base substitution T G intron_variant LICA-FR 1 36778447 36778447 single base substitution G A downstream_gene_variant LICA-FR 1 36778447 36778447 single base substitution G A intron_variant LICA-FR 1 36786011 36786011 single base substitution G A 3_prime_UTR_variant LICA-FR 1 36786011 36786011 single base substitution G A downstream_gene_variant LICA-FR 1 36786011 36786011 single base substitution G A exon_variant LICA-FR 1 36786011 36786011 single base substitution G A missense_variant E229K 685G>A LICA-FR 1 36786011 36786011 single base substitution G A missense_variant E467K 1399G>A LICA-FR 1 36786011 36786011 single base substitution G A missense_variant E472K 1414G>A LICA-FR 1 36786011 36786011 single base substitution G A missense_variant E583K 1747G>A LICA-FR 1 36786266 36786266 single base substitution G C 3_prime_UTR_variant LICA-FR 1 36786266 36786266 single base substitution G C downstream_gene_variant LICA-FR 1 36786266 36786266 single base substitution G C exon_variant LICA-FR 1 36786266 36786266 single base substitution G C missense_variant E314Q 940G>C LICA-FR 1 36786266 36786266 single base substitution G C missense_variant E552Q 1654G>C LICA-FR 1 36786266 36786266 single base substitution G C missense_variant E557Q 1669G>C LICA-FR 1 36786266 36786266 single base substitution G C missense_variant E668Q 2002G>C LICA-FR 1 36786710 36786710 single base substitution G A 3_prime_UTR_variant LICA-FR 1 36786710 36786710 single base substitution G A downstream_gene_variant LICA-FR 1 36786710 36786710 single base substitution G A exon_variant LICA-FR 1 36786710 36786710 single base substitution G A synonymous_variant T397T 1191G>A LICA-FR 1 36786710 36786710 single base substitution G A synonymous_variant T635T 1905G>A LICA-FR 1 36786710 36786710 single base substitution G A synonymous_variant T640T 1920G>A LICA-FR 1 36786710 36786710 single base substitution G A synonymous_variant T751T 2253G>A LIHC-US 1 36774016 36774016 single base substitution A G 5_prime_UTR_variant LIHC-US 1 36774016 36774016 single base substitution A G exon_variant LIHC-US 1 36774016 36774016 single base substitution A G synonymous_variant E106E 318A>G LIHC-US 1 36774016 36774016 single base substitution A G synonymous_variant E111E 333A>G LIHC-US 1 36774016 36774016 single base substitution A G synonymous_variant E222E 666A>G LIHC-US 1 36788575 36788575 single base substitution G C downstream_gene_variant LIHC-US 1 36788575 36788575 single base substitution G C intron_variant LINC-JP 1 36767290 36767290 single base substitution A G upstream_gene_variant LINC-JP 1 36769816 36769816 single base substitution G A upstream_gene_variant LINC-JP 1 36770581 36770581 single base substitution T G upstream_gene_variant LINC-JP 1 36772122 36772122 single base substitution G A intron_variant LINC-JP 1 36772122 36772122 single base substitution G A upstream_gene_variant LINC-JP 1 36772606 36772606 single base substitution G T intron_variant LINC-JP 1 36772606 36772606 single base substitution G T upstream_gene_variant LINC-JP 1 36772985 36772985 single base substitution G A intron_variant LINC-JP 1 36774268 36774268 single base substitution C T intron_variant LINC-JP 1 36784869 36784869 single base substitution G A 5_prime_UTR_variant LINC-JP 1 36784869 36784869 single base substitution G A exon_variant LINC-JP 1 36784869 36784869 single base substitution G A intron_variant LINC-JP 1 36784869 36784869 single base substitution G A missense_variant R175Q 524G>A LINC-JP 1 36784869 36784869 single base substitution G A missense_variant R180Q 539G>A LINC-JP 1 36784869 36784869 single base substitution G A missense_variant R291Q 872G>A LINC-JP 1 36784869 36784869 single base substitution G A upstream_gene_variant LINC-JP 1 36787997 36787997 single base substitution G A 3_prime_UTR_variant LINC-JP 1 36787997 36787997 single base substitution G A downstream_gene_variant LINC-JP 1 36787997 36787997 single base substitution G A exon_variant LIRI-JP 1 36767462 36767465 deletion of <=200bp TAGA - upstream_gene_variant LIRI-JP 1 36769754 36769754 single base substitution A G upstream_gene_variant LIRI-JP 1 36770193 36770193 single base substitution A T upstream_gene_variant LIRI-JP 1 36771333 36771333 single base substitution A T upstream_gene_variant LIRI-JP 1 36771605 36771605 single base substitution C T upstream_gene_variant LIRI-JP 1 36775469 36775469 single base substitution T C downstream_gene_variant LIRI-JP 1 36775469 36775469 single base substitution T C intron_variant LIRI-JP 1 36776946 36776946 single base substitution A G downstream_gene_variant LIRI-JP 1 36776946 36776946 single base substitution A G intron_variant LIRI-JP 1 36777192 36777192 single base substitution G C downstream_gene_variant LIRI-JP 1 36777192 36777192 single base substitution G C intron_variant LIRI-JP 1 36779784 36779784 single base substitution G A downstream_gene_variant LIRI-JP 1 36779784 36779784 single base substitution G A intron_variant LIRI-JP 1 36780590 36780590 single base substitution A T intron_variant LIRI-JP 1 36780590 36780590 single base substitution A T upstream_gene_variant LIRI-JP 1 36780737 36780737 single base substitution C T intron_variant LIRI-JP 1 36780737 36780737 single base substitution C T upstream_gene_variant LIRI-JP 1 36781861 36781861 single base substitution A G intron_variant LIRI-JP 1 36781861 36781861 single base substitution A G upstream_gene_variant LIRI-JP 1 36783188 36783188 single base substitution A G intron_variant LIRI-JP 1 36783188 36783188 single base substitution A G upstream_gene_variant LIRI-JP 1 36783698 36783698 single base substitution A G intron_variant LIRI-JP 1 36783698 36783698 single base substitution A G upstream_gene_variant LIRI-JP 1 36785317 36785317 single base substitution G T 3_prime_UTR_variant LIRI-JP 1 36785317 36785317 single base substitution G T 5_prime_UTR_variant LIRI-JP 1 36785317 36785317 single base substitution G T exon_variant LIRI-JP 1 36785317 36785317 single base substitution G T missense_variant K235N 705G>T LIRI-JP 1 36785317 36785317 single base substitution G T missense_variant K240N 720G>T LIRI-JP 1 36785317 36785317 single base substitution G T missense_variant K351N 1053G>T LIRI-JP 1 36785317 36785317 single base substitution G T upstream_gene_variant LIRI-JP 1 36787226 36787226 single base substitution A G downstream_gene_variant LIRI-JP 1 36787226 36787226 single base substitution A G exon_variant LIRI-JP 1 36787226 36787226 single base substitution A G intron_variant LIRI-JP 1 36794281 36794281 single base substitution G T downstream_gene_variant LUSC-KR 1 36768737 36768737 single base substitution G T upstream_gene_variant LUSC-KR 1 36770617 36770617 single base substitution C T upstream_gene_variant LUSC-KR 1 36770741 36770741 single base substitution A G upstream_gene_variant LUSC-KR 1 36773543 36773543 single base substitution C G 5_prime_UTR_variant LUSC-KR 1 36773543 36773543 single base substitution C G intron_variant LUSC-KR 1 36773543 36773543 single base substitution C G missense_variant P173A 517C>G LUSC-KR 1 36773543 36773543 single base substitution C G missense_variant P57A 169C>G LUSC-KR 1 36773543 36773543 single base substitution C G missense_variant P62A 184C>G LUSC-KR 1 36781716 36781716 single base substitution C G intron_variant LUSC-KR 1 36781716 36781716 single base substitution C G upstream_gene_variant LUSC-KR 1 36786976 36786976 single base substitution C T downstream_gene_variant LUSC-KR 1 36786976 36786976 single base substitution C T exon_variant LUSC-KR 1 36786976 36786976 single base substitution C T intron_variant LUSC-KR 1 36788343 36788343 single base substitution G A downstream_gene_variant LUSC-KR 1 36788343 36788343 single base substitution G A intron_variant LUSC-US 1 36785735 36785735 single base substitution T G 3_prime_UTR_variant LUSC-US 1 36785735 36785735 single base substitution T G downstream_gene_variant LUSC-US 1 36785735 36785735 single base substitution T G exon_variant LUSC-US 1 36785735 36785735 single base substitution T G missense_variant S137A 409T>G LUSC-US 1 36785735 36785735 single base substitution T G missense_variant S375A 1123T>G LUSC-US 1 36785735 36785735 single base substitution T G missense_variant S380A 1138T>G LUSC-US 1 36785735 36785735 single base substitution T G missense_variant S491A 1471T>G LUSC-US 1 36788602 36788602 single base substitution T G downstream_gene_variant LUSC-US 1 36788602 36788602 single base substitution T G intron_variant MALY-DE 1 36767208 36767208 single base substitution A G upstream_gene_variant MALY-DE 1 36767936 36767936 single base substitution G T upstream_gene_variant MALY-DE 1 36771227 36771227 single base substitution G A upstream_gene_variant MALY-DE 1 36777633 36777633 single base substitution A T downstream_gene_variant MALY-DE 1 36777633 36777633 single base substitution A T intron_variant MALY-DE 1 36779516 36779516 single base substitution T C downstream_gene_variant MALY-DE 1 36779516 36779516 single base substitution T C intron_variant MALY-DE 1 36781539 36781539 single base substitution T G intron_variant MALY-DE 1 36781539 36781539 single base substitution T G upstream_gene_variant MALY-DE 1 36781628 36781628 single base substitution T G intron_variant MALY-DE 1 36781628 36781628 single base substitution T G upstream_gene_variant MALY-DE 1 36792577 36792577 single base substitution G T downstream_gene_variant MELA-AU 1 36768013 36768013 single base substitution C T upstream_gene_variant MELA-AU 1 36768077 36768077 single base substitution C A upstream_gene_variant MELA-AU 1 36768132 36768132 single base substitution G A upstream_gene_variant MELA-AU 1 36768520 36768520 single base substitution G A upstream_gene_variant MELA-AU 1 36769387 36769387 single base substitution T A upstream_gene_variant MELA-AU 1 36771232 36771232 single base substitution C T upstream_gene_variant MELA-AU 1 36772095 36772095 single base substitution C T intron_variant MELA-AU 1 36772095 36772095 single base substitution C T upstream_gene_variant MELA-AU 1 36772096 36772096 single base substitution G A intron_variant MELA-AU 1 36772096 36772096 single base substitution G A upstream_gene_variant MELA-AU 1 36772471 36772471 single base substitution G C 5_prime_UTR_variant MELA-AU 1 36772471 36772471 single base substitution G C missense_variant G64A 191G>C MELA-AU 1 36772471 36772471 single base substitution G C upstream_gene_variant MELA-AU 1 36772620 36772620 single base substitution C T intron_variant MELA-AU 1 36772620 36772620 single base substitution C T upstream_gene_variant MELA-AU 1 36772712 36772712 single base substitution C T 5_prime_UTR_variant MELA-AU 1 36772712 36772712 single base substitution C T intron_variant MELA-AU 1 36772712 36772712 single base substitution C T upstream_gene_variant MELA-AU 1 36772745 36772745 single base substitution C T 5_prime_UTR_variant MELA-AU 1 36772745 36772745 single base substitution C T exon_variant MELA-AU 1 36772745 36772745 single base substitution C T intron_variant MELA-AU 1 36773528 36773528 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 1 36773528 36773528 single base substitution C T intron_variant MELA-AU 1 36773528 36773528 single base substitution C T synonymous_variant L168L 502C>T MELA-AU 1 36773528 36773528 single base substitution C T synonymous_variant L52L 154C>T MELA-AU 1 36773528 36773528 single base substitution C T synonymous_variant L57L 169C>T MELA-AU 1 36773967 36773967 single base substitution C T intron_variant MELA-AU 1 36775580 36775580 single base substitution G A downstream_gene_variant MELA-AU 1 36775580 36775580 single base substitution G A intron_variant MELA-AU 1 36775590 36775590 single base substitution C T downstream_gene_variant MELA-AU 1 36775590 36775590 single base substitution C T intron_variant MELA-AU 1 36775950 36775950 single base substitution C T downstream_gene_variant MELA-AU 1 36775950 36775950 single base substitution C T intron_variant MELA-AU 1 36776751 36776751 single base substitution C A downstream_gene_variant MELA-AU 1 36776751 36776751 single base substitution C A intron_variant MELA-AU 1 36777514 36777514 single base substitution T A downstream_gene_variant MELA-AU 1 36777514 36777514 single base substitution T A intron_variant MELA-AU 1 36777515 36777515 single base substitution C T downstream_gene_variant MELA-AU 1 36777515 36777515 single base substitution C T intron_variant MELA-AU 1 36777553 36777553 single base substitution C T downstream_gene_variant MELA-AU 1 36777553 36777553 single base substitution C T intron_variant MELA-AU 1 36777940 36777940 single base substitution C T downstream_gene_variant MELA-AU 1 36777940 36777940 single base substitution C T intron_variant MELA-AU 1 36778462 36778462 single base substitution C T downstream_gene_variant MELA-AU 1 36778462 36778462 single base substitution C T intron_variant MELA-AU 1 36778881 36778881 single base substitution C T downstream_gene_variant MELA-AU 1 36778881 36778881 single base substitution C T intron_variant MELA-AU 1 36778967 36778967 single base substitution C T downstream_gene_variant MELA-AU 1 36778967 36778967 single base substitution C T intron_variant MELA-AU 1 36780411 36780411 single base substitution C T intron_variant MELA-AU 1 36780411 36780411 single base substitution C T upstream_gene_variant MELA-AU 1 36780634 36780634 single base substitution G A intron_variant MELA-AU 1 36780634 36780634 single base substitution G A upstream_gene_variant MELA-AU 1 36780648 36780648 single base substitution G A intron_variant MELA-AU 1 36780648 36780648 single base substitution G A upstream_gene_variant MELA-AU 1 36781952 36781952 single base substitution C A intron_variant MELA-AU 1 36781952 36781952 single base substitution C A upstream_gene_variant MELA-AU 1 36782466 36782466 single base substitution G A intron_variant MELA-AU 1 36782466 36782466 single base substitution G A upstream_gene_variant MELA-AU 1 36782617 36782617 single base substitution C T intron_variant MELA-AU 1 36782617 36782617 single base substitution C T upstream_gene_variant MELA-AU 1 36782835 36782835 single base substitution C T intron_variant MELA-AU 1 36782835 36782835 single base substitution C T upstream_gene_variant MELA-AU 1 36783918 36783918 single base substitution C T intron_variant MELA-AU 1 36783918 36783918 single base substitution C T upstream_gene_variant MELA-AU 1 36785415 36785416 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 1 36785415 36785416 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 36785415 36785416 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 1 36785415 36785416 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P268L 803CC>TT MELA-AU 1 36785415 36785416 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P273L 818CC>TT MELA-AU 1 36785415 36785416 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P30L 89CC>TT MELA-AU 1 36785415 36785416 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P384L 1151CC>TT MELA-AU 1 36785415 36785416 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 36785711 36785711 single base substitution G A 3_prime_UTR_variant MELA-AU 1 36785711 36785711 single base substitution G A downstream_gene_variant MELA-AU 1 36785711 36785711 single base substitution G A exon_variant MELA-AU 1 36785711 36785711 single base substitution G A missense_variant E129K 385G>A MELA-AU 1 36785711 36785711 single base substitution G A missense_variant E367K 1099G>A MELA-AU 1 36785711 36785711 single base substitution G A missense_variant E372K 1114G>A MELA-AU 1 36785711 36785711 single base substitution G A missense_variant E483K 1447G>A MELA-AU 1 36786293 36786293 single base substitution C T 3_prime_UTR_variant MELA-AU 1 36786293 36786293 single base substitution C T downstream_gene_variant MELA-AU 1 36786293 36786293 single base substitution C T exon_variant MELA-AU 1 36786293 36786293 single base substitution C T missense_variant P323S 967C>T MELA-AU 1 36786293 36786293 single base substitution C T missense_variant P561S 1681C>T MELA-AU 1 36786293 36786293 single base substitution C T missense_variant P566S 1696C>T MELA-AU 1 36786293 36786293 single base substitution C T missense_variant P677S 2029C>T MELA-AU 1 36786748 36786748 single base substitution C T 3_prime_UTR_variant MELA-AU 1 36786748 36786748 single base substitution C T downstream_gene_variant MELA-AU 1 36786748 36786748 single base substitution C T exon_variant MELA-AU 1 36787233 36787233 single base substitution C T downstream_gene_variant MELA-AU 1 36787233 36787233 single base substitution C T exon_variant MELA-AU 1 36787233 36787233 single base substitution C T intron_variant MELA-AU 1 36787396 36787396 single base substitution G A downstream_gene_variant MELA-AU 1 36787396 36787396 single base substitution G A intron_variant MELA-AU 1 36787807 36787808 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 36787807 36787808 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 36788769 36788769 single base substitution C T downstream_gene_variant MELA-AU 1 36788769 36788769 single base substitution C T intron_variant MELA-AU 1 36789331 36789332 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 36789331 36789332 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 36789359 36789359 single base substitution C T downstream_gene_variant MELA-AU 1 36789359 36789359 single base substitution C T intron_variant MELA-AU 1 36789500 36789500 single base substitution T A downstream_gene_variant MELA-AU 1 36789500 36789500 single base substitution T A exon_variant MELA-AU 1 36789500 36789500 single base substitution T A intron_variant MELA-AU 1 36789713 36789713 single base substitution G A 3_prime_UTR_variant MELA-AU 1 36789713 36789713 single base substitution G A downstream_gene_variant MELA-AU 1 36790161 36790161 single base substitution G A 3_prime_UTR_variant MELA-AU 1 36790161 36790161 single base substitution G A downstream_gene_variant MELA-AU 1 36790183 36790183 single base substitution G A 3_prime_UTR_variant MELA-AU 1 36790183 36790183 single base substitution G A downstream_gene_variant MELA-AU 1 36791958 36791958 single base substitution G A downstream_gene_variant MELA-AU 1 36792193 36792193 single base substitution C T downstream_gene_variant MELA-AU 1 36792324 36792325 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 36792557 36792557 single base substitution C T downstream_gene_variant MELA-AU 1 36792925 36792925 single base substitution G A downstream_gene_variant MELA-AU 1 36793272 36793272 single base substitution T C downstream_gene_variant MELA-AU 1 36793472 36793472 single base substitution C T downstream_gene_variant MELA-AU 1 36793615 36793615 single base substitution C T downstream_gene_variant MELA-AU 1 36793625 36793625 single base substitution C T downstream_gene_variant MELA-AU 1 36793965 36793965 single base substitution G A downstream_gene_variant MELA-AU 1 36793976 36793976 single base substitution G A downstream_gene_variant MELA-AU 1 36794163 36794163 single base substitution G A downstream_gene_variant MELA-AU 1 36794473 36794473 single base substitution C T downstream_gene_variant MELA-AU 1 36794532 36794532 single base substitution G A downstream_gene_variant MELA-AU 1 36794621 36794621 single base substitution C T downstream_gene_variant ORCA-IN 1 36788219 36788219 single base substitution G T 3_prime_UTR_variant ORCA-IN 1 36788219 36788219 single base substitution G T downstream_gene_variant ORCA-IN 1 36788219 36788219 single base substitution G T exon_variant OV-AU 1 36768975 36768975 single base substitution A T upstream_gene_variant OV-AU 1 36772708 36772708 single base substitution C A 5_prime_UTR_variant OV-AU 1 36772708 36772708 single base substitution C A intron_variant OV-AU 1 36772708 36772708 single base substitution C A upstream_gene_variant OV-AU 1 36779074 36779074 single base substitution A G downstream_gene_variant OV-AU 1 36779074 36779074 single base substitution A G intron_variant OV-AU 1 36789885 36789885 single base substitution C G 3_prime_UTR_variant OV-AU 1 36789885 36789885 single base substitution C G downstream_gene_variant OV-AU 1 36793231 36793231 single base substitution C A downstream_gene_variant OV-AU 1 36794510 36794510 single base substitution G C downstream_gene_variant PACA-AU 1 36786157 36786157 single base substitution A G 3_prime_UTR_variant PACA-AU 1 36786157 36786157 single base substitution A G downstream_gene_variant PACA-AU 1 36786157 36786157 single base substitution A G exon_variant PACA-AU 1 36786157 36786157 single base substitution A G synonymous_variant K277K 831A>G PACA-AU 1 36786157 36786157 single base substitution A G synonymous_variant K515K 1545A>G PACA-AU 1 36786157 36786157 single base substitution A G synonymous_variant K520K 1560A>G PACA-AU 1 36786157 36786157 single base substitution A G synonymous_variant K631K 1893A>G PACA-AU 1 36788139 36788139 single base substitution C T 3_prime_UTR_variant PACA-AU 1 36788139 36788139 single base substitution C T downstream_gene_variant PACA-AU 1 36788139 36788139 single base substitution C T exon_variant PACA-CA 1 36771159 36771159 single base substitution G A upstream_gene_variant PACA-CA 1 36774987 36774987 single base substitution G A intron_variant PACA-CA 1 36776998 36776998 single base substitution C T downstream_gene_variant PACA-CA 1 36776998 36776998 single base substitution C T intron_variant PACA-CA 1 36777136 36777136 single base substitution C T downstream_gene_variant PACA-CA 1 36777136 36777136 single base substitution C T intron_variant PACA-CA 1 36778900 36778900 single base substitution C T downstream_gene_variant PACA-CA 1 36778900 36778900 single base substitution C T intron_variant PACA-CA 1 36783822 36783822 single base substitution A T intron_variant PACA-CA 1 36783822 36783822 single base substitution A T upstream_gene_variant PACA-CA 1 36783843 36783843 single base substitution G A intron_variant PACA-CA 1 36783843 36783843 single base substitution G A upstream_gene_variant PACA-CA 1 36785656 36785656 single base substitution G A 3_prime_UTR_variant PACA-CA 1 36785656 36785656 single base substitution G A downstream_gene_variant PACA-CA 1 36785656 36785656 single base substitution G A exon_variant PACA-CA 1 36785656 36785656 single base substitution G A missense_variant M110I 330G>A PACA-CA 1 36785656 36785656 single base substitution G A missense_variant M348I 1044G>A PACA-CA 1 36785656 36785656 single base substitution G A missense_variant M353I 1059G>A PACA-CA 1 36785656 36785656 single base substitution G A missense_variant M464I 1392G>A PACA-CA 1 36786598 36786598 single base substitution C T downstream_gene_variant PACA-CA 1 36786598 36786598 single base substitution C T intron_variant PACA-CA 1 36787774 36787774 single base substitution C T downstream_gene_variant PACA-CA 1 36787774 36787774 single base substitution C T intron_variant PACA-CA 1 36788012 36788012 single base substitution G A 3_prime_UTR_variant PACA-CA 1 36788012 36788012 single base substitution G A downstream_gene_variant PACA-CA 1 36788012 36788012 single base substitution G A exon_variant PACA-CA 1 36789598 36789598 single base substitution T C 3_prime_UTR_variant PACA-CA 1 36789598 36789598 single base substitution T C downstream_gene_variant PACA-CA 1 36790032 36790032 single base substitution C T 3_prime_UTR_variant PACA-CA 1 36790032 36790032 single base substitution C T downstream_gene_variant PACA-CA 1 36791358 36791358 single base substitution G T downstream_gene_variant PAEN-AU 1 36778614 36778614 single base substitution A G downstream_gene_variant PAEN-AU 1 36778614 36778614 single base substitution A G intron_variant PBCA-DE 1 36767660 36767660 single base substitution T C upstream_gene_variant PBCA-DE 1 36774109 36774109 single base substitution G A intron_variant PBCA-DE 1 36775595 36775595 single base substitution G A downstream_gene_variant PBCA-DE 1 36775595 36775595 single base substitution G A intron_variant PBCA-DE 1 36779357 36779357 single base substitution G T downstream_gene_variant PBCA-DE 1 36779357 36779357 single base substitution G T intron_variant PBCA-DE 1 36790373 36790373 single base substitution C T 3_prime_UTR_variant PBCA-DE 1 36790373 36790373 single base substitution C T downstream_gene_variant PBCA-DE 1 36791958 36791958 single base substitution G A downstream_gene_variant PRAD-CA 1 36778341 36778341 single base substitution G A downstream_gene_variant PRAD-CA 1 36778341 36778341 single base substitution G A intron_variant PRAD-UK 1 36772489 36772489 single base substitution G A 5_prime_UTR_variant PRAD-UK 1 36772489 36772489 single base substitution G A missense_variant R70H 209G>A PRAD-UK 1 36772489 36772489 single base substitution G A upstream_gene_variant PRAD-UK 1 36775980 36775980 single base substitution C T downstream_gene_variant PRAD-UK 1 36775980 36775980 single base substitution C T intron_variant PRAD-UK 1 36783494 36783494 single base substitution A C intron_variant PRAD-UK 1 36783494 36783494 single base substitution A C upstream_gene_variant PRAD-UK 1 36785258 36785258 single base substitution C A intron_variant PRAD-UK 1 36785258 36785258 single base substitution C A upstream_gene_variant PRAD-UK 1 36786204 36786204 single base substitution C T 3_prime_UTR_variant PRAD-UK 1 36786204 36786204 single base substitution C T downstream_gene_variant PRAD-UK 1 36786204 36786204 single base substitution C T exon_variant PRAD-UK 1 36786204 36786204 single base substitution C T missense_variant P293L 878C>T PRAD-UK 1 36786204 36786204 single base substitution C T missense_variant P531L 1592C>T PRAD-UK 1 36786204 36786204 single base substitution C T missense_variant P536L 1607C>T PRAD-UK 1 36786204 36786204 single base substitution C T missense_variant P647L 1940C>T PRAD-US 1 36769470 36769470 single base substitution G A upstream_gene_variant PRAD-US 1 36788016 36788016 single base substitution C T 3_prime_UTR_variant PRAD-US 1 36788016 36788016 single base substitution C T downstream_gene_variant PRAD-US 1 36788016 36788016 single base substitution C T exon_variant SKCA-BR 1 36769391 36769391 single base substitution C T upstream_gene_variant SKCA-BR 1 36770581 36770581 single base substitution T G upstream_gene_variant SKCA-BR 1 36770617 36770617 single base substitution C T upstream_gene_variant SKCA-BR 1 36774371 36774371 single base substitution G A intron_variant SKCA-BR 1 36774795 36774795 insertion of <=200bp - AT intron_variant SKCA-BR 1 36778928 36778928 insertion of <=200bp - CAATA downstream_gene_variant SKCA-BR 1 36778928 36778928 insertion of <=200bp - CAATA intron_variant SKCA-BR 1 36780065 36780065 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 1 36780065 36780065 insertion of <=200bp - CT intron_variant SKCA-BR 1 36780065 36780065 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 1 36781829 36781839 deletion of <=200bp TTTTTGTTTTG - intron_variant SKCA-BR 1 36781829 36781839 deletion of <=200bp TTTTTGTTTTG - upstream_gene_variant SKCA-BR 1 36782157 36782157 single base substitution C T intron_variant SKCA-BR 1 36782157 36782157 single base substitution C T upstream_gene_variant SKCA-BR 1 36783045 36783045 single base substitution T G intron_variant SKCA-BR 1 36783045 36783045 single base substitution T G upstream_gene_variant SKCA-BR 1 36786421 36786421 single base substitution T G downstream_gene_variant SKCA-BR 1 36786421 36786421 single base substitution T G intron_variant SKCA-BR 1 36786602 36786602 single base substitution A G downstream_gene_variant SKCA-BR 1 36786602 36786602 single base substitution A G intron_variant SKCA-BR 1 36787000 36787000 single base substitution A G downstream_gene_variant SKCA-BR 1 36787000 36787000 single base substitution A G exon_variant SKCA-BR 1 36787000 36787000 single base substitution A G intron_variant SKCA-BR 1 36788516 36788516 single base substitution G A downstream_gene_variant SKCA-BR 1 36788516 36788516 single base substitution G A intron_variant SKCA-BR 1 36789157 36789157 single base substitution T C downstream_gene_variant SKCA-BR 1 36789157 36789157 single base substitution T C intron_variant SKCA-BR 1 36789928 36789928 single base substitution A C 3_prime_UTR_variant SKCA-BR 1 36789928 36789928 single base substitution A C downstream_gene_variant SKCA-BR 1 36790981 36790981 single base substitution C T downstream_gene_variant SKCM-US 1 36769490 36769490 single base substitution C T upstream_gene_variant SKCM-US 1 36785831 36785831 single base substitution G A 3_prime_UTR_variant SKCM-US 1 36785831 36785831 single base substitution G A downstream_gene_variant SKCM-US 1 36785831 36785831 single base substitution G A exon_variant SKCM-US 1 36785831 36785831 single base substitution G A missense_variant D169N 505G>A SKCM-US 1 36785831 36785831 single base substitution G A missense_variant D407N 1219G>A SKCM-US 1 36785831 36785831 single base substitution G A missense_variant D412N 1234G>A SKCM-US 1 36785831 36785831 single base substitution G A missense_variant D523N 1567G>A SKCM-US 1 36785872 36785872 single base substitution C T 3_prime_UTR_variant SKCM-US 1 36785872 36785872 single base substitution C T downstream_gene_variant SKCM-US 1 36785872 36785872 single base substitution C T exon_variant SKCM-US 1 36785872 36785872 single base substitution C T synonymous_variant P182P 546C>T SKCM-US 1 36785872 36785872 single base substitution C T synonymous_variant P420P 1260C>T SKCM-US 1 36785872 36785872 single base substitution C T synonymous_variant P425P 1275C>T SKCM-US 1 36785872 36785872 single base substitution C T synonymous_variant P536P 1608C>T SKCM-US 1 36786171 36786171 single base substitution C T 3_prime_UTR_variant SKCM-US 1 36786171 36786171 single base substitution C T downstream_gene_variant SKCM-US 1 36786171 36786171 single base substitution C T exon_variant SKCM-US 1 36786171 36786171 single base substitution C T missense_variant P282L 845C>T SKCM-US 1 36786171 36786171 single base substitution C T missense_variant P520L 1559C>T SKCM-US 1 36786171 36786171 single base substitution C T missense_variant P525L 1574C>T SKCM-US 1 36786171 36786171 single base substitution C T missense_variant P636L 1907C>T SKCM-US 1 36786686 36786686 single base substitution C T 3_prime_UTR_variant SKCM-US 1 36786686 36786686 single base substitution C T downstream_gene_variant SKCM-US 1 36786686 36786686 single base substitution C T exon_variant SKCM-US 1 36786686 36786686 single base substitution C T synonymous_variant S389S 1167C>T SKCM-US 1 36786686 36786686 single base substitution C T synonymous_variant S627S 1881C>T SKCM-US 1 36786686 36786686 single base substitution C T synonymous_variant S632S 1896C>T SKCM-US 1 36786686 36786686 single base substitution C T synonymous_variant S743S 2229C>T SKCM-US 1 36788049 36788049 single base substitution C T 3_prime_UTR_variant SKCM-US 1 36788049 36788049 single base substitution C T downstream_gene_variant SKCM-US 1 36788049 36788049 single base substitution C T exon_variant SKCM-US 1 36788614 36788614 single base substitution C T downstream_gene_variant SKCM-US 1 36788614 36788614 single base substitution C T intron_variant STAD-US 1 36769406 36769406 single base substitution C T upstream_gene_variant STAD-US 1 36769439 36769439 single base substitution C T upstream_gene_variant STAD-US 1 36769580 36769580 single base substitution C T upstream_gene_variant STAD-US 1 36785295 36785295 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant STAD-US 1 36785295 36785295 single base substitution C T exon_variant STAD-US 1 36785295 36785295 single base substitution C T missense_variant P228L 683C>T STAD-US 1 36785295 36785295 single base substitution C T missense_variant P233L 698C>T STAD-US 1 36785295 36785295 single base substitution C T missense_variant P344L 1031C>T STAD-US 1 36785295 36785295 single base substitution C T upstream_gene_variant STAD-US 1 36785312 36785312 single base substitution G C 3_prime_UTR_variant STAD-US 1 36785312 36785312 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant STAD-US 1 36785312 36785312 single base substitution G C exon_variant STAD-US 1 36785312 36785312 single base substitution G C missense_variant V234L 700G>C STAD-US 1 36785312 36785312 single base substitution G C missense_variant V239L 715G>C STAD-US 1 36785312 36785312 single base substitution G C missense_variant V350L 1048G>C STAD-US 1 36785312 36785312 single base substitution G C upstream_gene_variant STAD-US 1 36785329 36785329 single base substitution G A 3_prime_UTR_variant STAD-US 1 36785329 36785329 single base substitution G A exon_variant STAD-US 1 36785329 36785329 single base substitution G A missense_variant M239I 717G>A STAD-US 1 36785329 36785329 single base substitution G A missense_variant M244I 732G>A STAD-US 1 36785329 36785329 single base substitution G A missense_variant M355I 1065G>A STAD-US 1 36785329 36785329 single base substitution G A start_lost M1I 3G>A STAD-US 1 36785329 36785329 single base substitution G A upstream_gene_variant STAD-US 1 36785374 36785374 single base substitution C T 3_prime_UTR_variant STAD-US 1 36785374 36785374 single base substitution C T exon_variant STAD-US 1 36785374 36785374 single base substitution C T synonymous_variant N16N 48C>T STAD-US 1 36785374 36785374 single base substitution C T synonymous_variant N254N 762C>T STAD-US 1 36785374 36785374 single base substitution C T synonymous_variant N259N 777C>T STAD-US 1 36785374 36785374 single base substitution C T synonymous_variant N370N 1110C>T STAD-US 1 36785374 36785374 single base substitution C T upstream_gene_variant STAD-US 1 36785787 36785787 single base substitution C T 3_prime_UTR_variant STAD-US 1 36785787 36785787 single base substitution C T downstream_gene_variant STAD-US 1 36785787 36785787 single base substitution C T exon_variant STAD-US 1 36785787 36785787 single base substitution C T missense_variant S154L 461C>T STAD-US 1 36785787 36785787 single base substitution C T missense_variant S392L 1175C>T STAD-US 1 36785787 36785787 single base substitution C T missense_variant S397L 1190C>T STAD-US 1 36785787 36785787 single base substitution C T missense_variant S508L 1523C>T STAD-US 1 36786335 36786335 single base substitution A T 3_prime_UTR_variant STAD-US 1 36786335 36786335 single base substitution A T downstream_gene_variant STAD-US 1 36786335 36786335 single base substitution A T exon_variant STAD-US 1 36786335 36786335 single base substitution A T missense_variant T337S 1009A>T STAD-US 1 36786335 36786335 single base substitution A T missense_variant T575S 1723A>T STAD-US 1 36786335 36786335 single base substitution A T missense_variant T580S 1738A>T STAD-US 1 36786335 36786335 single base substitution A T missense_variant T691S 2071A>T THCA-SA 1 36773405 36773405 single base substitution T G 5_prime_UTR_variant THCA-SA 1 36773405 36773405 single base substitution T G exon_variant THCA-SA 1 36773405 36773405 single base substitution T G synonymous_variant P157P 471T>G THCA-SA 1 36773405 36773405 single base substitution T G synonymous_variant P41P 123T>G THCA-SA 1 36773405 36773405 single base substitution T G synonymous_variant P46P 138T>G THCA-US 1 36786296 36786296 single base substitution C A 3_prime_UTR_variant THCA-US 1 36786296 36786296 single base substitution C A downstream_gene_variant THCA-US 1 36786296 36786296 single base substitution C A exon_variant THCA-US 1 36786296 36786296 single base substitution C A missense_variant Q324K 970C>A THCA-US 1 36786296 36786296 single base substitution C A missense_variant Q562K 1684C>A THCA-US 1 36786296 36786296 single base substitution C A missense_variant Q567K 1699C>A THCA-US 1 36786296 36786296 single base substitution C A missense_variant Q678K 2032C>A UCEC-US 1 36769491 36769491 single base substitution G A upstream_gene_variant UCEC-US 1 36773736 36773736 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 1 36773736 36773736 single base substitution C A intron_variant UCEC-US 1 36773736 36773736 single base substitution C A missense_variant L189M 565C>A UCEC-US 1 36773736 36773736 single base substitution C A missense_variant L73M 217C>A UCEC-US 1 36773736 36773736 single base substitution C A missense_variant L78M 232C>A UCEC-US 1 36774006 36774006 single base substitution G A 5_prime_UTR_variant UCEC-US 1 36774006 36774006 single base substitution G A exon_variant UCEC-US 1 36774006 36774006 single base substitution G A missense_variant G103D 308G>A UCEC-US 1 36774006 36774006 single base substitution G A missense_variant G108D 323G>A UCEC-US 1 36774006 36774006 single base substitution G A missense_variant G219D 656G>A UCEC-US 1 36785685 36785685 single base substitution C A 3_prime_UTR_variant UCEC-US 1 36785685 36785685 single base substitution C A downstream_gene_variant UCEC-US 1 36785685 36785685 single base substitution C A exon_variant UCEC-US 1 36785685 36785685 single base substitution C A missense_variant P120H 359C>A UCEC-US 1 36785685 36785685 single base substitution C A missense_variant P358H 1073C>A UCEC-US 1 36785685 36785685 single base substitution C A missense_variant P363H 1088C>A UCEC-US 1 36785685 36785685 single base substitution C A missense_variant P474H 1421C>A UCEC-US 1 36785817 36785817 single base substitution T G 3_prime_UTR_variant UCEC-US 1 36785817 36785817 single base substitution T G downstream_gene_variant UCEC-US 1 36785817 36785817 single base substitution T G exon_variant UCEC-US 1 36785817 36785817 single base substitution T G missense_variant F164C 491T>G UCEC-US 1 36785817 36785817 single base substitution T G missense_variant F402C 1205T>G UCEC-US 1 36785817 36785817 single base substitution T G missense_variant F407C 1220T>G UCEC-US 1 36785817 36785817 single base substitution T G missense_variant F518C 1553T>G UCEC-US 1 36785948 36785948 single base substitution C T 3_prime_UTR_variant UCEC-US 1 36785948 36785948 single base substitution C T downstream_gene_variant UCEC-US 1 36785948 36785948 single base substitution C T exon_variant UCEC-US 1 36785948 36785948 single base substitution C T missense_variant R208C 622C>T UCEC-US 1 36785948 36785948 single base substitution C T missense_variant R446C 1336C>T UCEC-US 1 36785948 36785948 single base substitution C T missense_variant R451C 1351C>T UCEC-US 1 36785948 36785948 single base substitution C T missense_variant R562C 1684C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand S00838 COSM5661377 c.1513C>T p.H505Y Substitution - Missense 1:36320176-36320176 + 16 COSM3736905 c.880C>T p.P294S Substitution - Missense 1:36320605-36320605 + TCGA-AA-3549-01 COSM292173 c.1023_1024insGAG p.G341_E342insE Insertion - In frame 1:36320748-36320749 + TCGA-BR-6452-01 COSM3689646 c.1110C>T p.N370N Substitution - coding silent 1:36319773-36319773 + TCGA-AA-A010-01 COSM279320 c.447C>A p.F149L Substitution - Missense 1:36320172-36320172 + 587222 COSM1198369 c.1251G>T p.E417D Substitution - Missense 1:36319914-36319914 + TCGA-EE-A29M-06 COSM3489048 c.505G>A p.D169N Substitution - Missense 1:36320230-36320230 + TCGA-EK-A2PM-01 COSM4831577 c.1952G>C p.R651T Substitution - Missense 1:36320615-36320615 + TCGA-D1-A174-01 COSM908863 c.481C>T p.R161W Substitution - Missense 1:36307814-36307814 + 2334191 COSM319045 c.2048A>T p.N683I Substitution - Missense 1:36320711-36320711 + TCGA-CM-5864-01 COSM1342293 c.580G>A p.G194R Substitution - Missense 1:36320305-36320305 + CSCC-10-T COSM4470772 c.619C>T p.P207S Substitution - Missense 1:36320344-36320344 + CSCC-10-T COSM4470771 c.1681C>T p.P561S Substitution - Missense 1:36320344-36320344 + TP_2064 COSM4953019 c.1191G>A p.T397T Substitution - coding silent 1:36321109-36321109 + CML005T COSM5802785 c.949G>C p.A317P Substitution - Missense 1:36320674-36320674 + TCGA-AA-A010-01 COSM279318 c.124G>T p.A42S Substitution - Missense 1:36319849-36319849 + TCGA-B5-A0K9-01 COSM908870 c.1684C>T p.R562C Substitution - Missense 1:36320347-36320347 + TCGA-Q1-A73O-01 COSM4835944 c.1055G>A p.R352K Substitution - Missense 1:36319718-36319718 + ESO-0149 COSM1246638 c.203C>T p.P68L Substitution - Missense 1:36319928-36319928 + RKO COSM2081308 c.1813delC p.N607fs*6 Deletion - Frameshift 1:36320476-36320476 + HCC082T COSM5816297 c.1182C>A p.D394E Substitution - Missense 1:36319845-36319845 + 0034_CRUK_PC_0034_T1_DNA COSM5422066 c.878C>T p.P293L Substitution - Missense 1:36320603-36320603 + TCGA-AZ-6601-01 COSM1342298 c.2006C>T p.T669M Substitution - Missense 1:36320669-36320669 + CHC2200T COSM4953019 c.1191G>A p.T397T Substitution - coding silent 1:36321109-36321109 + TCGA-18-3409-01 COSM680902 c.409T>G p.S137A Substitution - Missense 1:36320134-36320134 + pfg212T COSM4752856 c.1211C>T p.S404L Substitution - Missense 1:36319874-36319874 + TCGA-18-3409-01 COSM680901 c.1471T>G p.S491A Substitution - Missense 1:36320134-36320134 + CLL086 COSM1290192 c.1523C>T p.S508L Substitution - Missense 1:36320186-36320186 + CSCC-40-T COSM4435821 c.1177C>T p.R393C Substitution - Missense 1:36321095-36321095 + TCGA-G4-6304-01 COSM1198368 c.923C>T p.P308L Substitution - Missense 1:36320648-36320648 + 2492701 COSM5600466 c.862C>T p.P288S Substitution - Missense 1:36320587-36320587 + TCGA-BR-4361-01 COSM4007473 c.1009A>T p.T337S Substitution - Missense 1:36320734-36320734 + CHC1183T COSM4801591 c.940G>C p.E314Q Substitution - Missense 1:36320665-36320665 + DLD1 COSM2081317 c.924G>A p.P308P Substitution - coding silent 1:36320649-36320649 + CHC432T COSM4953790 c.1747G>A p.E583K Substitution - Missense 1:36320410-36320410 + 30996 COSM5043534 c.76C>A p.P26T Substitution - Missense 1:36319801-36319801 + 2521262 COSM5891630 c.1074-6C>T p.? Unknown 1:36320909-36320909 + TCGA-G4-6628-01 COSM1342294 c.1740delC p.H582fs*31 Deletion - Frameshift 1:36320403-36320403 + 260211 COSM3726838 c.31delC p.P12fs*27 Deletion - Frameshift 1:36319756-36319756 + 452 COSM4435821 c.1177C>T p.R393C Substitution - Missense 1:36321095-36321095 + CHC205T COSM3746950 c.1012-6C>T p.? Unknown 1:36319669-36319669 + 8062308 COSM83891 c.831A>G p.K277K Substitution - coding silent 1:36320556-36320556 + PD13758a COSM5770619 c.1190C>T p.S397F Substitution - Missense 1:36319853-36319853 + TCGA-AP-A0LM-01 COSM908869 c.491T>G p.F164C Substitution - Missense 1:36320216-36320216 + 30996 COSM5043533 c.1138C>A p.P380T Substitution - Missense 1:36319801-36319801 + ESCC_47 COSM5053448 c.682C>T p.R228* Substitution - Nonsense 1:36308431-36308431 + TCGA-BR-8372-01 COSM4007469 c.1048G>C p.V350L Substitution - Missense 1:36319711-36319711 + HCC42T COSM1602306 c.872G>A p.R291Q Substitution - Missense 1:36319268-36319268 + KM12 COSM1667412 c.92C>T p.S31F Substitution - Missense 1:36319817-36319817 + TCGA-B5-A0K9-01 COSM908871 c.622C>T p.R208C Substitution - Missense 1:36320347-36320347 + CSCC-38-T COSM4469906 c.564C>T p.S188S Substitution - coding silent 1:36320289-36320289 + BD217T COSM5495338 c.1113G>C p.E371D Substitution - Missense 1:36320954-36320954 + CSCC-38-T COSM4469905 c.1626C>T p.S542S Substitution - coding silent 1:36320289-36320289 + SW1116 COSM2081297 c.462G>A p.S154S Substitution - coding silent 1:36320187-36320187 + 2521262 COSM5891629 c.2136-6C>T p.? Unknown 1:36320909-36320909 + 587222 COSM1198370 c.189G>T p.E63D Substitution - Missense 1:36319914-36319914 + TCGA-CA-6718-01 COSM1342291 c.351G>A p.K117K Substitution - coding silent 1:36320076-36320076 + PD13758a COSM5770620 c.128C>T p.S43F Substitution - Missense 1:36319853-36319853 + 2492702 COSM5600466 c.862C>T p.P288S Substitution - Missense 1:36320587-36320587 + 2492703 COSM5600466 c.862C>T p.P288S Substitution - Missense 1:36320587-36320587 + HCT15 COSM2081316 c.1986G>A p.P662P Substitution - coding silent 1:36320649-36320649 + ccRCC-25 COSM1664151 c.314T>C p.L105P Substitution - Missense 1:36320039-36320039 + TCGA-HU-8243-01 COSM4007468 c.1031C>T p.P344L Substitution - Missense 1:36319694-36319694 + TCGA-CG-5728-01 COSM4007470 c.1065G>A p.M355I Substitution - Missense 1:36319728-36319728 + TCGA-G4-6628-01 COSM1342295 c.678delC p.H228fs*31 Deletion - Frameshift 1:36320403-36320403 + TCGA-BR-4361-01 COSM4007472 c.2071A>T p.T691S Substitution - Missense 1:36320734-36320734 + 6P2-1 COSM3734159 c.197T>A p.V66E Substitution - Missense 1:36319922-36319922 + 452 COSM4435820 c.2239C>T p.R747C Substitution - Missense 1:36321095-36321095 + 11M COSM5577041 c.1564G>A p.E522K Substitution - Missense 1:36320227-36320227 + 382 COSM4426585 c.1302C>T p.I434I Substitution - coding silent 1:36319965-36319965 + TCGA-BR-6452-01 COSM3689647 c.48C>T p.N16N Substitution - coding silent 1:36319773-36319773 + Gp5D COSM2081311 c.842C>A p.P281H Substitution - Missense 1:36320567-36320567 + WSU-HN13 COSM908871 c.622C>T p.R208C Substitution - Missense 1:36320347-36320347 + BD217T COSM5495337 c.2175G>C p.E725D Substitution - Missense 1:36320954-36320954 + 16 COSM3736904 c.1942C>T p.P648S Substitution - Missense 1:36320605-36320605 + TCGA-AZ-6598-01 COSM1342288 c.249G>A p.R83R Substitution - coding silent 1:36307189-36307189 + Au2 COSM5600466 c.862C>T p.P288S Substitution - Missense 1:36320587-36320587 + GHE0609 COSM5714106 c.1073+3G>T p.? Unknown 1:36320801-36320801 + PTC-14C COSM4143871 c.1271A>C p.D424A Substitution - Missense 1:36319934-36319934 + CLL086 COSM1290193 c.461C>T p.S154L Substitution - Missense 1:36320186-36320186 + TCGA-AD-6901-01 COSM3689647 c.48C>T p.N16N Substitution - coding silent 1:36319773-36319773 + CSCC-40-T COSM4435820 c.2239C>T p.R747C Substitution - Missense 1:36321095-36321095 + TCGA-BR-A4QL-01 COSM1290193 c.461C>T p.S154L Substitution - Missense 1:36320186-36320186 + 6P2-2 COSM3734158 c.1259T>A p.V420E Substitution - Missense 1:36319922-36319922 + TCGA-EK-A2PM-01 COSM4831578 c.890G>C p.R297T Substitution - Missense 1:36320615-36320615 + 2492700 COSM5600465 c.1924C>T p.P642S Substitution - Missense 1:36320587-36320587 + WSU-HN13 COSM908870 c.1684C>T p.R562C Substitution - Missense 1:36320347-36320347 + ccRCC-25 COSM1664150 c.1376T>C p.L459P Substitution - Missense 1:36320039-36320039 + QC2-05-T2 COSM5651891 c.972C>T p.S324S Substitution - coding silent 1:36319497-36319497 + TCGA-BH-A1EY-01 COSM1473934 c.1234A>G p.K412E Substitution - Missense 1:36319897-36319897 + TCGA-BR-A4QL-01 COSM1290192 c.1523C>T p.S508L Substitution - Missense 1:36320186-36320186 + 2492702 COSM5600465 c.1924C>T p.P642S Substitution - Missense 1:36320587-36320587 + Gp5D COSM2081310 c.1904C>A p.P635H Substitution - Missense 1:36320567-36320567 + 40M COSM5586560 c.1838G>A p.R613K Substitution - Missense 1:36320501-36320501 + 6T COSM3734158 c.1259T>A p.V420E Substitution - Missense 1:36319922-36319922 + TCGA-D5-6540-01 COSM1342297 c.877delC p.I295fs*1 Deletion - Frameshift 1:36320602-36320602 + CSCC-55-T COSM4460609 c.1172C>T p.T391I Substitution - Missense 1:36319835-36319835 + TCGA-A2-A0T5-01 COSM3805076 c.361T>G p.W121G Substitution - Missense 1:36307532-36307532 + 2334191 COSM319044 c.986A>T p.N329I Substitution - Missense 1:36320711-36320711 + PT35 COSM5911512 c.1195C>T p.P399S Substitution - Missense 1:36319858-36319858 + ESO-0149 COSM1246637 c.1265C>T p.P422L Substitution - Missense 1:36319928-36319928 + CHC2200T COSM4953018 c.2253G>A p.T751T Substitution - coding silent 1:36321109-36321109 + 6T COSM3734159 c.197T>A p.V66E Substitution - Missense 1:36319922-36319922 + TP_2064 COSM4953018 c.2253G>A p.T751T Substitution - coding silent 1:36321109-36321109 + TCGA-CG-5728-01 COSM4007471 c.3G>A p.M1I Substitution - Missense 1:36319728-36319728 + Gp2D COSM2081310 c.1904C>A p.P635H Substitution - Missense 1:36320567-36320567 + HCC42 COSM1602306 c.872G>A p.R291Q Substitution - Missense 1:36319268-36319268 + HCT8 COSM2081317 c.924G>A p.P308P Substitution - coding silent 1:36320649-36320649 + TCGA-DJ-A1QN-01 COSM3369736 c.970C>A p.Q324K Substitution - Missense 1:36320695-36320695 + SW1116 COSM2081296 c.1524G>A p.S508S Substitution - coding silent 1:36320187-36320187 + 260211 COSM3726837 c.1093delC p.P366fs*27 Deletion - Frameshift 1:36319756-36319756 + 2492700 COSM5600466 c.862C>T p.P288S Substitution - Missense 1:36320587-36320587 + LS411 COSM2081312 c.1954G>A p.A652T Substitution - Missense 1:36320617-36320617 + TCGA-AZ-6600-01 COSM1342300 c.2263A>G p.T755A Substitution - Missense 1:36321119-36321119 + CHC432T COSM4953790 c.1747G>A p.E583K Substitution - Missense 1:36320410-36320410 + TCGA-AZ-6600-01 COSM1342301 c.1201A>G p.T401A Substitution - Missense 1:36321119-36321119 + HDC90 COSM4637304 c.2217G>T p.G739G Substitution - coding silent 1:36321073-36321073 + TCGA-HT-A616-01 COSM3966552 c.1258G>A p.V420M Substitution - Missense 1:36319921-36319921 + CCK81 COSM2081319 c.980C>T p.T327M Substitution - Missense 1:36320705-36320705 + TCGA-EE-A29M-06 COSM3489047 c.1567G>A p.D523N Substitution - Missense 1:36320230-36320230 + CSCC-55-T COSM4460610 c.110C>T p.T37I Substitution - Missense 1:36319835-36319835 + TCGA-EE-A2M5-06 COSM3489052 c.845C>T p.P282L Substitution - Missense 1:36320570-36320570 + DLD1 COSM2081316 c.1986G>A p.P662P Substitution - coding silent 1:36320649-36320649 + CML005T COSM5802784 c.2011G>C p.A671P Substitution - Missense 1:36320674-36320674 + HDC90 COSM4637305 c.1155G>T p.G385G Substitution - coding silent 1:36321073-36321073 + TCGA-DJ-A1QN-01 COSM3369735 c.2032C>A p.Q678K Substitution - Missense 1:36320695-36320695 + TCGA-HT-A616-01 COSM3966553 c.196G>A p.V66M Substitution - Missense 1:36319921-36319921 + HCC099T COSM5816616 c.612G>T p.R204S Substitution - Missense 1:36308182-36308182 + ESO-177 COSM1246640 c.6G>A p.P2P Substitution - coding silent 1:36319731-36319731 + 587238 COSM1198367 c.1985C>T p.P662L Substitution - Missense 1:36320648-36320648 + CHC1183T COSM4801591 c.940G>C p.E314Q Substitution - Missense 1:36320665-36320665 + 2492703 COSM5600465 c.1924C>T p.P642S Substitution - Missense 1:36320587-36320587 + CHC2200T COSM4953018 c.2253G>A p.T751T Substitution - coding silent 1:36321109-36321109 + CCK81 COSM2081318 c.2042C>T p.T681M Substitution - Missense 1:36320705-36320705 + TCGA-CA-6718-01 COSM1342290 c.1413G>A p.K471K Substitution - coding silent 1:36320076-36320076 + EGC3 COSM5053448 c.682C>T p.R228* Substitution - Nonsense 1:36308431-36308431 + KM12 COSM1667412 c.92C>T p.S31F Substitution - Missense 1:36319817-36319817 + T3091 COSM4725657 c.1964delA p.T657fs*34 Deletion - Frameshift 1:36320627-36320627 + TCGA-D1-A17Q-01 COSM908866 c.1421C>A p.P474H Substitution - Missense 1:36320084-36320084 + sysucc-1163T COSM5458438 c.994C>T p.R332C Substitution - Missense 1:36319519-36319519 + HCT8 COSM2081316 c.1986G>A p.P662P Substitution - coding silent 1:36320649-36320649 + PT35 COSM5911513 c.133C>T p.P45S Substitution - Missense 1:36319858-36319858 + sysucc-1317T COSM5448606 c.568T>C p.F190L Substitution - Missense 1:36308138-36308138 + LIM2551 COSM4643795 c.862A>G p.K288E Substitution - Missense 1:36319163-36319163 + 6P2-2 COSM3734159 c.197T>A p.V66E Substitution - Missense 1:36319922-36319922 + CHC2200T COSM4953019 c.1191G>A p.T397T Substitution - coding silent 1:36321109-36321109 + 587238 COSM1198368 c.923C>T p.P308L Substitution - Missense 1:36320648-36320648 + Au2 COSM5600465 c.1924C>T p.P642S Substitution - Missense 1:36320587-36320587 + 3N38-VS-3T38 COSM4981281 c.616G>C p.D206H Substitution - Missense 1:36308186-36308186 + LS411 COSM2081313 c.892G>A p.A298T Substitution - Missense 1:36320617-36320617 + CHC1183T COSM4801590 c.2002G>C p.E668Q Substitution - Missense 1:36320665-36320665 + 0034_CRUK_PC_0034_T1_DNA COSM5422065 c.1940C>T p.P647L Substitution - Missense 1:36320603-36320603 + CSCC-44-T COSM4530105 c.605G>C p.R202T Substitution - Missense 1:36320330-36320330 + TCGA-AA-3549-01 COSM292174 c.2085_2086insGAG p.G695_E696insE Insertion - In frame 1:36320748-36320749 + TCGA-AD-6901-01 COSM3689646 c.1110C>T p.N370N Substitution - coding silent 1:36319773-36319773 + RKO COSM2081309 c.751delC p.N253fs*6 Deletion - Frameshift 1:36320476-36320476 + KM12 COSM1667411 c.1154C>T p.S385F Substitution - Missense 1:36319817-36319817 + PTC-14C COSM4143872 c.209A>C p.D70A Substitution - Missense 1:36319934-36319934 + EGC3 COSM5053450 c.37G>T p.A13S Substitution - Missense 1:36319762-36319762 + SNU-C4 COSM4652428 c.575G>A p.C192Y Substitution - Missense 1:36320300-36320300 + BD72T COSM5511497 c.1061C>A p.P354H Substitution - Missense 1:36319724-36319724 + EGC3 COSM5053449 c.1099G>T p.A367S Substitution - Missense 1:36319762-36319762 + TCGA-AP-A0LM-01 COSM908868 c.1553T>G p.F518C Substitution - Missense 1:36320216-36320216 + TCGA-AZ-6601-01 COSM1342299 c.944C>T p.T315M Substitution - Missense 1:36320669-36320669 + ME048T COSM229650 c.983C>G p.T328S Substitution - Missense 1:36319508-36319508 + TCGA-A6-5665-01 COSM1342289 c.618C>T p.D206D Substitution - coding silent 1:36308188-36308188 + HT115 COSM2081287 c.287T>C p.V96A Substitution - Missense 1:36320012-36320012 + TCGA-CC-A1HT-01 COSM4928301 c.666A>G p.E222E Substitution - coding silent 1:36308415-36308415 + T3091 COSM4725658 c.902delA p.T303fs*34 Deletion - Frameshift 1:36320627-36320627 + RK106_C01 COSM1627038 c.1053G>T p.K351N Substitution - Missense 1:36319716-36319716 + 6P2-1 COSM3734158 c.1259T>A p.V420E Substitution - Missense 1:36319922-36319922 + Pa14C COSM83891 c.831A>G p.K277K Substitution - coding silent 1:36320556-36320556 + TCGA-EE-A3JA-06 COSM3489049 c.1608C>T p.P536P Substitution - coding silent 1:36320271-36320271 + CHC432T COSM4953791 c.685G>A p.E229K Substitution - Missense 1:36320410-36320410 + TCGA-EE-A3JA-06 COSM3489050 c.546C>T p.P182P Substitution - coding silent 1:36320271-36320271 + TCGA-D1-A17Q-01 COSM908867 c.359C>A p.P120H Substitution - Missense 1:36320084-36320084 + TCGA-EB-A44P-01 COSM3489053 c.2229C>T p.S743S Substitution - coding silent 1:36321085-36321085 + 40M COSM5586561 c.776G>A p.R259K Substitution - Missense 1:36320501-36320501 + TCGA-D1-A103-01 COSM908864 c.565C>A p.L189M Substitution - Missense 1:36308135-36308135 + TCGA-BH-A1EY-01 COSM1473935 c.172A>G p.K58E Substitution - Missense 1:36319897-36319897 + 8062308 COSM3386123 c.1893A>G p.K631K Substitution - coding silent 1:36320556-36320556 + SNU-C4 COSM4652427 c.1637G>A p.C546Y Substitution - Missense 1:36320300-36320300 + TCGA-AP-A0LM-01 COSM908865 c.656G>A p.G219D Substitution - Missense 1:36308405-36308405 + ZZUFHECRKL-G008T COSM5437320 c.8T>C p.V3A Substitution - Missense 1:36306601-36306601 + CHC432T COSM4953791 c.685G>A p.E229K Substitution - Missense 1:36320410-36320410 + GHE0609 COSM5714105 c.2135+3G>T p.? Unknown 1:36320801-36320801 + KM12 COSM1667411 c.1154C>T p.S385F Substitution - Missense 1:36319817-36319817 + TCGA-AA-A010-01 COSM279321 c.1509C>A p.F503L Substitution - Missense 1:36320172-36320172 + PT49 COSM5934414 c.517C>T p.P173S Substitution - Missense 1:36307942-36307942 + TCGA-CM-5864-01 COSM1342292 c.1642G>A p.G548R Substitution - Missense 1:36320305-36320305 + 587234 COSM1198371 c.619G>A p.V207M Substitution - Missense 1:36308189-36308189 + Gp2D COSM2081311 c.842C>A p.P281H Substitution - Missense 1:36320567-36320567 + ESO-177 COSM1246639 c.1068G>A p.P356P Substitution - coding silent 1:36319731-36319731 + TCGA-EB-A44P-01 COSM3489054 c.1167C>T p.S389S Substitution - coding silent 1:36321085-36321085 + TCGA-EE-A2M5-06 COSM3489051 c.1907C>T p.P636L Substitution - Missense 1:36320570-36320570 + 11M COSM5577042 c.502G>A p.E168K Substitution - Missense 1:36320227-36320227 + ESCC_162 COSM5647765 c.2118G>C p.L706L Substitution - coding silent 1:36320781-36320781 + CSCC-44-T COSM4530104 c.1667G>C p.R556T Substitution - Missense 1:36320330-36320330 + HCC082T COSM5816298 c.120C>A p.D40E Substitution - Missense 1:36319845-36319845 + TCGA-FU-A770-01 COSM4841332 c.879C>T p.P293P Substitution - coding silent 1:36319275-36319275 + KM12 COSM2081289 c.403G>A p.E135K Substitution - Missense 1:36320128-36320128 + PD4100a COSM159529 c.842C>A p.T281N Substitution - Missense 1:36319143-36319143 + S00838 COSM5661378 c.451C>T p.H151Y Substitution - Missense 1:36320176-36320176 + HT115 COSM2081286 c.1349T>C p.V450A Substitution - Missense 1:36320012-36320012 + CHC1183T COSM4801590 c.2002G>C p.E668Q Substitution - Missense 1:36320665-36320665 + ESCC_162 COSM5647766 c.1056G>C p.L352L Substitution - coding silent 1:36320781-36320781 + CSCC-31-T COSM4494430 c.432C>T p.P144P Substitution - coding silent 1:36307603-36307603 + 382 COSM4426586 c.240C>T p.I80I Substitution - coding silent 1:36319965-36319965 + pfg212T COSM4752857 c.149C>T p.S50L Substitution - Missense 1:36319874-36319874 + TCGA-AA-A010-01 COSM279319 c.1186G>T p.A396S Substitution - Missense 1:36319849-36319849 + TCGA-D5-6540-01 COSM1342296 c.1939delC p.I649fs*1 Deletion - Frameshift 1:36320602-36320602 + HCT15 COSM2081317 c.924G>A p.P308P Substitution - coding silent 1:36320649-36320649 + KM12 COSM2081288 c.1465G>A p.E489K Substitution - Missense 1:36320128-36320128 + TCGA-G4-6304-01 COSM1198367 c.1985C>T p.P662L Substitution - Missense 1:36320648-36320648 + 2492701 COSM5600465 c.1924C>T p.P642S Substitution - Missense 1:36320587-36320587 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.524496 1p34.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.K412E c.1234A>G 1 36785498 BRCA A G Synonymous p.K631K c.1893A>G 1 36786157 PAAD A T Missense p.N683I c.2048A>T 1 36786312 SCLC C A Missense p.Q678K c.2032C>A 1 36786296 THCA C A Missense p.T281N c.842C>A 1 36784744 BRCA C A Synonymous p.V676V c.2028C>A 1 36786292 LUAD C T Missense p.A671V c.2012C>T 1 36786276 COREAD C T Missense p.P447L c.1340C>T 1 36785604 CM C T Missense p.P636L c.1907C>T 1 36786171 CM C T Missense p.R562C c.1684C>T 1 36785948 UCEC C T Missense p.S508L c.1523C>T 1 36785787 CLL C T Missense p.S526F c.1577C>T 1 36785841 CM C T Synonymous p.L390L c.1170C>T 1 36785434 HNSC C T Synonymous p.N370N c.1110C>T 1 36785374 HNSC C T Synonymous p.P536P c.1608C>T 1 36785872 CM - GAG InFrameInsertion p.G695dupG c.2086_2087insGAG 1 36786350 COREAD G A Missense p.D523N c.1567G>A 1 36785831 CM G A Missense p.M355I c.1065G>A 1 36785329 STAD G A Synonymous p.P356P c.1068G>A 1 36785332 ESCA G T Missense p.D665Y c.1993G>T 1 36786257 LUAD G T Missense p.K351N c.1053G>T 1 36785317 HC T A Missense p.V420E c.1259T>A 1 36785523 COREAD