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 18 163451 163451 + Nonsense_Mutation SNP A A T TCGA-GC-A6I1-01A-12D-A31L-08 TCGA-GC-A6I1-10A-01D-A31J-08 g.chr18:163451A>T c.160A>T c.(160-162)Aag>Tag p.K54* BLCA 18 178985 178985 + Missense_Mutation SNP C C T TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 g.chr18:178985C>T c.248C>T c.(247-249)tCa>tTa p.S83L BLCA 18 179002 179002 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 g.chr18:179002G>A c.265G>A c.(265-267)Gta>Ata p.V89I BLCA 18 179008 179008 + Missense_Mutation SNP G G T TCGA-XF-A9SZ-01A-11D-A391-08 TCGA-XF-A9SZ-10A-01D-A394-08 g.chr18:179008G>T c.271G>T c.(271-273)Gac>Tac p.D91Y BLCA 18 209994 209994 + Silent SNP G G A TCGA-4Z-AA7Y-01A-11D-A391-08 TCGA-4Z-AA7Y-10A-01D-A394-08 g.chr18:209994G>A c.1188G>A c.(1186-1188)caG>caA p.Q396Q BLCA 18 211255 211255 + Missense_Mutation SNP G G A TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr18:211255G>A c.1456G>A c.(1456-1458)Gaa>Aaa p.E486K BRCA 18 178978 178978 + Nonsense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr18:178978G>T c.241G>T c.(241-243)Gaa>Taa p.E81* BRCA 18 210024 210024 + Silent SNP T T C TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 g.chr18:210024T>C c.1218T>C c.(1216-1218)ttT>ttC p.F406F COAD 18 163331 163331 + Missense_Mutation SNP A A C TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr18:163331A>C c.40A>C c.(40-42)Aaa>Caa p.K14Q COAD 18 196734 196734 + Silent SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr18:196734C>T c.561C>T c.(559-561)gcC>gcT p.A187A COAD 18 198092 198092 + Missense_Mutation SNP A A G TCGA-CK-6747-01A-11D-1835-10 TCGA-CK-6747-10A-01D-1835-10 g.chr18:198092A>G c.721A>G c.(721-723)Agt>Ggt p.S241G COAD 18 198113 198113 + Missense_Mutation SNP G G A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr18:198113G>A c.742G>A c.(742-744)Ggt>Agt p.G248S COAD 18 199221 199223 + In_Frame_Del DEL GAA GAA - TCGA-CK-6747-01A-11D-1835-10 TCGA-CK-6747-10A-01D-1835-10 g.chr18:199221_199223delGAA c.781_783delGAA c.(781-783)gaadel p.E264del COAD 18 199221 199223 + In_Frame_Del DEL GAA GAA - TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr18:199221_199223delGAA c.781_783delGAA c.(781-783)gaadel p.E264del COAD 18 202914 202914 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr18:202914C>T c.911C>T c.(910-912)aCg>aTg p.T304M COAD 18 203145 203146 + Frame_Shift_Ins INS - - T TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr18:203145_203146insT c.990_991insT c.(991-993)tttfs p.F331fs COADREAD 18 163331 163331 + Missense_Mutation SNP A A C TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr18:163331A>C c.40A>C c.(40-42)Aaa>Caa p.K14Q COADREAD 18 196734 196734 + Silent SNP C C T TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr18:196734C>T c.561C>T c.(559-561)gcC>gcT p.A187A COADREAD 18 198092 198092 + Missense_Mutation SNP A A G TCGA-AF-2687-01A-02D-1733-10 TCGA-AF-2687-10A-01D-1733-10 g.chr18:198092A>G c.721A>G c.(721-723)Agt>Ggt p.S241G COADREAD 18 198092 198092 + Missense_Mutation SNP A A G TCGA-CK-6747-01A-11D-1835-10 TCGA-CK-6747-10A-01D-1835-10 g.chr18:198092A>G c.721A>G c.(721-723)Agt>Ggt p.S241G COADREAD 18 198113 198113 + Missense_Mutation SNP G G A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr18:198113G>A c.742G>A c.(742-744)Ggt>Agt p.G248S COADREAD 18 199221 199223 + In_Frame_Del DEL GAA GAA - TCGA-CK-6747-01A-11D-1835-10 TCGA-CK-6747-10A-01D-1835-10 g.chr18:199221_199223delGAA c.781_783delGAA c.(781-783)gaadel p.E264del COADREAD 18 199221 199223 + In_Frame_Del DEL GAA GAA - TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr18:199221_199223delGAA c.781_783delGAA c.(781-783)gaadel p.E264del COADREAD 18 202914 202914 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr18:202914C>T c.911C>T c.(910-912)aCg>aTg p.T304M COADREAD 18 203145 203146 + Frame_Shift_Ins INS - - T TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr18:203145_203146insT c.990_991insT c.(991-993)tttfs p.F331fs ESCA 18 180329 180329 + Missense_Mutation SNP G G T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 g.chr18:180329G>T c.394G>T c.(394-396)Gcc>Tcc p.A132S ESCA 18 197625 197625 + Nonsense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 g.chr18:197625G>T c.604G>T c.(604-606)Gaa>Taa p.E202* ESCA 18 203115 203115 + Silent SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 g.chr18:203115G>T c.960G>T c.(958-960)ctG>ctT p.L320L ESCA 18 203144 203144 + Missense_Mutation SNP G G T TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 g.chr18:203144G>T c.989G>T c.(988-990)cGa>cTa p.R330L ESCA 18 203180 203180 + Missense_Mutation SNP A A G TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 g.chr18:203180A>G c.1025A>G c.(1024-1026)aAa>aGa p.K342R ESCA 18 211238 211238 + Missense_Mutation SNP A A G TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 g.chr18:211238A>G c.1439A>G c.(1438-1440)tAt>tGt p.Y480C GBMLGG 18 197620 197620 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:197620C>T c.599C>T c.(598-600)gCt>gTt p.A200V GBMLGG 18 197675 197675 + Missense_Mutation SNP A A G TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 g.chr18:197675A>G c.654A>G c.(652-654)atA>atG p.I218M GBMLGG 18 202880 202880 + Splice_Site SNP C C T TCGA-HT-7480-01A-11D-2086-08 TCGA-HT-7480-10A-01D-2086-08 g.chr18:202880C>T c.877C>T c.(877-879)Cga>Tga p.R293* HNSC 18 196733 196733 + Missense_Mutation SNP C C T TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 g.chr18:196733C>T c.560C>T c.(559-561)gCc>gTc p.A187V HNSC 18 202939 202939 + Silent SNP C C T TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 g.chr18:202939C>T c.936C>T c.(934-936)atC>atT p.I312I KICH 18 198072 198072 + Missense_Mutation SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr18:198072C>T c.701C>T c.(700-702)gCg>gTg p.A234V KICH 18 211193 211193 + Missense_Mutation SNP G G T TCGA-KL-8339-01A-11D-2310-10 TCGA-KL-8339-11A-01D-2310-10 g.chr18:211193G>T c.1394G>T c.(1393-1395)cGg>cTg p.R465L KIPAN 18 192871 192871 + Frame_Shift_Del DEL A A - TCGA-SX-A71V-01A-11D-A33Q-10 TCGA-SX-A71V-10A-01D-A33Q-10 g.chr18:192871delA c.434delA c.(433-435)gaafs p.E145fs KIPAN 18 198072 198072 + Missense_Mutation SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr18:198072C>T c.701C>T c.(700-702)gCg>gTg p.A234V KIPAN 18 211193 211193 + Missense_Mutation SNP G G T TCGA-KL-8339-01A-11D-2310-10 TCGA-KL-8339-11A-01D-2310-10 g.chr18:211193G>T c.1394G>T c.(1393-1395)cGg>cTg p.R465L KIRP 18 192871 192871 + Frame_Shift_Del DEL A A - TCGA-SX-A71V-01A-11D-A33Q-10 TCGA-SX-A71V-10A-01D-A33Q-10 g.chr18:192871delA c.434delA c.(433-435)gaafs p.E145fs LGG 18 197620 197620 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:197620C>T c.599C>T c.(598-600)gCt>gTt p.A200V LGG 18 197675 197675 + Missense_Mutation SNP A A G TCGA-HT-A74L-01A-11D-A32B-08 TCGA-HT-A74L-10A-01D-A329-08 g.chr18:197675A>G c.654A>G c.(652-654)atA>atG p.I218M LGG 18 202880 202880 + Splice_Site SNP C C T TCGA-HT-7480-01A-11D-2086-08 TCGA-HT-7480-10A-01D-2086-08 g.chr18:202880C>T c.877C>T c.(877-879)Cga>Tga p.R293* LIHC 18 198083 198083 + Frame_Shift_Del DEL A A - TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr18:198083delA c.712delA c.(712-714)aaafs p.K240fs LIHC 18 210016 210016 + Frame_Shift_Del DEL T T - TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr18:210016delT c.1210delT c.(1210-1212)tttfs p.F404fs LUAD 18 178978 178978 + Missense_Mutation SNP G G A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 g.chr18:178978G>A c.241G>A c.(241-243)Gaa>Aaa p.E81K LUAD 18 178987 178987 + Missense_Mutation SNP G G C TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr18:178987G>C c.250G>C c.(250-252)Gcc>Ccc p.A84P LUAD 18 180238 180238 + Missense_Mutation SNP G G A TCGA-97-7937-01A-11D-2167-08 TCGA-97-7937-10A-01D-2167-08 g.chr18:180238G>A c.303G>A c.(301-303)atG>atA p.M101I LUAD 18 196747 196747 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 g.chr18:196747C>A c.574C>A c.(574-576)Caa>Aaa p.Q192K LUAD 18 197634 197634 + Missense_Mutation SNP A A C TCGA-05-4426-01A-01D-1265-08 TCGA-05-4426-10A-01D-1265-08 g.chr18:197634A>C c.613A>C c.(613-615)Ata>Cta p.I205L LUAD 18 202918 202918 + Missense_Mutation SNP G G T TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr18:202918G>T c.915G>T c.(913-915)ttG>ttT p.L305F LUAD 18 210491 210491 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr18:210491A>T c.1331A>T c.(1330-1332)cAa>cTa p.Q444L LUAD 18 211166 211166 + Missense_Mutation SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 g.chr18:211166G>A c.1367G>A c.(1366-1368)aGc>aAc p.S456N LUSC 18 210396 210396 + Silent SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr18:210396C>A c.1236C>A c.(1234-1236)tcC>tcA p.S412S OV 18 198094 198094 + Missense_Mutation SNP T T G TCGA-13-0904-01A-02W-0420-08 TCGA-13-0904-10A-01D-0399-08 g.chr18:198094T>G c.723T>G c.(721-723)agT>agG p.S241R OV 18 211269 211269 + Missense_Mutation SNP G G C TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 g.chr18:211269G>C c.1470G>C c.(1468-1470)gaG>gaC p.E490D PAAD 18 163369 163369 + Silent SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr18:163369A>G c.78A>G c.(76-78)ccA>ccG p.P26P PAAD 18 197615 197615 + Splice_Site SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr18:197615G>T c.e8-1 PAAD 18 204644 204644 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr18:204644C>A c.1116C>A c.(1114-1116)tcC>tcA p.S372S PAAD 18 211215 211215 + Nonsense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 g.chr18:211215G>A c.1416G>A c.(1414-1416)tgG>tgA p.W472* PCPG 18 158712 158712 + Frame_Shift_Del DEL C C - TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 g.chr18:158712delC c.14delC c.(13-15)tccfs p.S5fs PRAD 18 163395 163395 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr18:163395C>T c.104C>T c.(103-105)gCg>gTg p.A35V PRAD 18 179030 179030 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr18:179030C>T c.293C>T c.(292-294)gCa>gTa p.A98V PRAD 18 192883 192883 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr18:192883C>T c.446C>T c.(445-447)gCg>gTg p.A149V PRAD 18 198100 198100 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr18:198100C>T c.729C>T c.(727-729)atC>atT p.I243I READ 18 198092 198092 + Missense_Mutation SNP A A G TCGA-AF-2687-01A-02D-1733-10 TCGA-AF-2687-10A-01D-1733-10 g.chr18:198092A>G c.721A>G c.(721-723)Agt>Ggt p.S241G

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 18 179002 179002 single base substitution G A 3_prime_UTR_variant BLCA-US 18 179002 179002 single base substitution G A intron_variant BLCA-US 18 179002 179002 single base substitution G A missense_variant V78I 232G>A BLCA-US 18 179002 179002 single base substitution G A missense_variant V89I 265G>A BRCA-EU 18 153465 153465 single base substitution T G upstream_gene_variant BRCA-EU 18 155862 155862 single base substitution T C upstream_gene_variant BRCA-EU 18 156072 156072 single base substitution C G upstream_gene_variant BRCA-EU 18 156470 156470 single base substitution A G upstream_gene_variant BRCA-EU 18 160134 160134 single base substitution C T intron_variant BRCA-EU 18 160134 160134 single base substitution C T upstream_gene_variant BRCA-EU 18 164956 164956 single base substitution A T downstream_gene_variant BRCA-EU 18 164956 164956 single base substitution A T intron_variant BRCA-EU 18 164959 164959 single base substitution T A downstream_gene_variant BRCA-EU 18 164959 164959 single base substitution T A intron_variant BRCA-EU 18 165468 165468 single base substitution C T downstream_gene_variant BRCA-EU 18 165468 165468 single base substitution C T intron_variant BRCA-EU 18 166165 166165 single base substitution C T downstream_gene_variant BRCA-EU 18 166165 166165 single base substitution C T intron_variant BRCA-EU 18 166342 166342 deletion of <=200bp T - downstream_gene_variant BRCA-EU 18 166342 166342 deletion of <=200bp T - intron_variant BRCA-EU 18 166342 166342 insertion of <=200bp - T downstream_gene_variant BRCA-EU 18 166342 166342 insertion of <=200bp - T intron_variant BRCA-EU 18 167709 167709 single base substitution T C downstream_gene_variant BRCA-EU 18 167709 167709 single base substitution T C intron_variant BRCA-EU 18 168444 168444 single base substitution C A downstream_gene_variant BRCA-EU 18 168444 168444 single base substitution C A intron_variant BRCA-EU 18 170021 170021 single base substitution G T intron_variant BRCA-EU 18 170215 170215 single base substitution A G intron_variant BRCA-EU 18 170686 170686 single base substitution A C intron_variant BRCA-EU 18 173572 173572 single base substitution C G intron_variant BRCA-EU 18 173765 173765 single base substitution A T intron_variant BRCA-EU 18 173799 173799 single base substitution G C intron_variant BRCA-EU 18 174027 174027 single base substitution G A intron_variant BRCA-EU 18 174794 174794 single base substitution C G intron_variant BRCA-EU 18 175468 175468 single base substitution C T intron_variant BRCA-EU 18 176033 176033 single base substitution A T intron_variant BRCA-EU 18 177255 177255 single base substitution G T intron_variant BRCA-EU 18 177513 177513 deletion of <=200bp A - intron_variant BRCA-EU 18 177648 177648 single base substitution T A intron_variant BRCA-EU 18 177925 177925 single base substitution A G intron_variant BRCA-EU 18 179767 179767 single base substitution T A intron_variant BRCA-EU 18 180864 180864 single base substitution G A intron_variant BRCA-EU 18 181410 181410 deletion of <=200bp T - intron_variant BRCA-EU 18 184206 184206 insertion of <=200bp - G intron_variant BRCA-EU 18 185399 185399 insertion of <=200bp - C intron_variant BRCA-EU 18 185645 185645 deletion of <=200bp T - intron_variant BRCA-EU 18 186830 186830 deletion of <=200bp T - intron_variant BRCA-EU 18 187036 187036 single base substitution G A intron_variant BRCA-EU 18 188251 188251 single base substitution C G intron_variant BRCA-EU 18 188869 188869 single base substitution T A intron_variant BRCA-EU 18 189521 189521 single base substitution C T intron_variant BRCA-EU 18 190876 190876 single base substitution G A intron_variant BRCA-EU 18 192675 192675 single base substitution A G intron_variant BRCA-EU 18 192675 192675 single base substitution A G upstream_gene_variant BRCA-EU 18 194006 194006 single base substitution C A intron_variant BRCA-EU 18 194006 194006 single base substitution C A upstream_gene_variant BRCA-EU 18 194648 194648 single base substitution G T intron_variant BRCA-EU 18 194648 194648 single base substitution G T upstream_gene_variant BRCA-EU 18 194864 194864 single base substitution G C intron_variant BRCA-EU 18 194864 194864 single base substitution G C upstream_gene_variant BRCA-EU 18 195143 195143 single base substitution C G intron_variant BRCA-EU 18 195143 195143 single base substitution C G upstream_gene_variant BRCA-EU 18 198536 198536 deletion of <=200bp A - downstream_gene_variant BRCA-EU 18 198536 198536 deletion of <=200bp A - intron_variant BRCA-EU 18 199070 199070 single base substitution G C downstream_gene_variant BRCA-EU 18 199070 199070 single base substitution G C intron_variant BRCA-EU 18 199356 199356 single base substitution C T downstream_gene_variant BRCA-EU 18 199356 199356 single base substitution C T intron_variant BRCA-EU 18 200657 200657 single base substitution T C downstream_gene_variant BRCA-EU 18 200657 200657 single base substitution T C intron_variant BRCA-EU 18 204519 204519 single base substitution C G intron_variant BRCA-EU 18 204905 204905 single base substitution T C intron_variant BRCA-EU 18 209594 209594 deletion of <=200bp T - intron_variant BRCA-EU 18 211309 211309 single base substitution G C 3_prime_UTR_variant BRCA-EU 18 211309 211309 single base substitution G C downstream_gene_variant BRCA-EU 18 211309 211309 single base substitution G C exon_variant BRCA-EU 18 212030 212030 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 18 212030 212030 deletion of <=200bp A - downstream_gene_variant BRCA-EU 18 212030 212030 deletion of <=200bp A - exon_variant BRCA-EU 18 214641 214641 single base substitution A G downstream_gene_variant BRCA-EU 18 218391 218391 single base substitution A G downstream_gene_variant BRCA-EU 18 219452 219452 single base substitution C A downstream_gene_variant BRCA-FR 18 172007 172007 single base substitution G A intron_variant BRCA-FR 18 189521 189521 single base substitution C T intron_variant BRCA-FR 18 194648 194648 single base substitution G T intron_variant BRCA-FR 18 194648 194648 single base substitution G T upstream_gene_variant BRCA-FR 18 195143 195143 single base substitution C G intron_variant BRCA-FR 18 195143 195143 single base substitution C G upstream_gene_variant BRCA-US 18 178978 178978 single base substitution G T 3_prime_UTR_variant BRCA-US 18 178978 178978 single base substitution G T intron_variant BRCA-US 18 178978 178978 single base substitution G T stop_gained E70* 208G>T BRCA-US 18 178978 178978 single base substitution G T stop_gained E81* 241G>T BRCA-US 18 210024 210024 single base substitution T C exon_variant BRCA-US 18 210024 210024 single base substitution T C synonymous_variant F360F 1080T>C BRCA-US 18 210024 210024 single base substitution T C synonymous_variant F371F 1113T>C BRCA-US 18 210024 210024 single base substitution T C synonymous_variant F395F 1185T>C BRCA-US 18 210024 210024 single base substitution T C synonymous_variant F406F 1218T>C BRCA-US 18 216572 216572 single base substitution G A downstream_gene_variant BTCA-JP 18 158446 158446 single base substitution T C 5_prime_UTR_variant BTCA-JP 18 158446 158446 single base substitution T C upstream_gene_variant BTCA-JP 18 163396 163396 single base substitution G A exon_variant BTCA-JP 18 163396 163396 single base substitution G A synonymous_variant A35A 105G>A BTCA-JP 18 163396 163396 single base substitution G A synonymous_variant A9A 27G>A BTCA-JP 18 196581 196581 single base substitution C T exon_variant BTCA-JP 18 196581 196581 single base substitution C T intron_variant BTCA-JP 18 197752 197752 single base substitution T A intron_variant BTCA-JP 18 198172 198172 single base substitution T C downstream_gene_variant BTCA-JP 18 198172 198172 single base substitution T C intron_variant BTCA-JP 18 214612 214612 deletion of <=200bp A - 3_prime_UTR_variant BTCA-JP 18 214612 214612 deletion of <=200bp A - downstream_gene_variant CLLE-ES 18 195847 195847 single base substitution T C intron_variant CLLE-ES 18 195847 195847 single base substitution T C upstream_gene_variant COAD-US 18 163331 163331 single base substitution A C 5_prime_UTR_variant COAD-US 18 163331 163331 single base substitution A C exon_variant COAD-US 18 163331 163331 single base substitution A C missense_variant K14Q 40A>C COAD-US 18 163331 163331 single base substitution A C upstream_gene_variant COAD-US 18 196734 196734 single base substitution C T 3_prime_UTR_variant COAD-US 18 196734 196734 single base substitution C T exon_variant COAD-US 18 196734 196734 single base substitution C T synonymous_variant A141A 423C>T COAD-US 18 196734 196734 single base substitution C T synonymous_variant A152A 456C>T COAD-US 18 196734 196734 single base substitution C T synonymous_variant A176A 528C>T COAD-US 18 196734 196734 single base substitution C T synonymous_variant A187A 561C>T COAD-US 18 198113 198113 single base substitution G A downstream_gene_variant COAD-US 18 198113 198113 single base substitution G A exon_variant COAD-US 18 198113 198113 single base substitution G A missense_variant G202S 604G>A COAD-US 18 198113 198113 single base substitution G A missense_variant G213S 637G>A COAD-US 18 198113 198113 single base substitution G A missense_variant G237S 709G>A COAD-US 18 198113 198113 single base substitution G A missense_variant G248S 742G>A COAD-US 18 199221 199223 deletion of <=200bp GAA - downstream_gene_variant COAD-US 18 199221 199223 deletion of <=200bp GAA - exon_variant COAD-US 18 199221 199223 deletion of <=200bp GAA - inframe_deletion E215 COAD-US 18 199221 199223 deletion of <=200bp GAA - inframe_deletion E226 COAD-US 18 199221 199223 deletion of <=200bp GAA - inframe_deletion E250 COAD-US 18 199221 199223 deletion of <=200bp GAA - inframe_deletion E261 COAD-US 18 203145 203145 insertion of <=200bp - T exon_variant COAD-US 18 203145 203145 insertion of <=200bp - T frameshift_variant R284R? COAD-US 18 203145 203145 insertion of <=200bp - T frameshift_variant R295R? COAD-US 18 203145 203145 insertion of <=200bp - T frameshift_variant R319R? COAD-US 18 203145 203145 insertion of <=200bp - T frameshift_variant R330R? COAD-US 18 214782 214782 single base substitution A G downstream_gene_variant COAD-US 18 214889 214889 single base substitution C T downstream_gene_variant COAD-US 18 216583 216583 single base substitution C T downstream_gene_variant COCA-CN 18 167009 167009 single base substitution T G downstream_gene_variant COCA-CN 18 167009 167009 single base substitution T G intron_variant COCA-CN 18 198101 198101 single base substitution G A 3_prime_UTR_variant COCA-CN 18 198101 198101 single base substitution G A exon_variant COCA-CN 18 198101 198101 single base substitution G A missense_variant D198N 592G>A COCA-CN 18 198101 198101 single base substitution G A missense_variant D209N 625G>A COCA-CN 18 198101 198101 single base substitution G A missense_variant D233N 697G>A COCA-CN 18 198101 198101 single base substitution G A missense_variant D244N 730G>A COCA-CN 18 198129 198129 single base substitution C T downstream_gene_variant COCA-CN 18 198129 198129 single base substitution C T exon_variant COCA-CN 18 198129 198129 single base substitution C T missense_variant T207I 620C>T COCA-CN 18 198129 198129 single base substitution C T missense_variant T218I 653C>T COCA-CN 18 198129 198129 single base substitution C T missense_variant T242I 725C>T COCA-CN 18 198129 198129 single base substitution C T missense_variant T253I 758C>T COCA-CN 18 204815 204815 single base substitution T A intron_variant EOPC-DE 18 165401 165401 single base substitution C T downstream_gene_variant EOPC-DE 18 165401 165401 single base substitution C T intron_variant EOPC-DE 18 167424 167424 single base substitution C A downstream_gene_variant EOPC-DE 18 167424 167424 single base substitution C A intron_variant EOPC-DE 18 219008 219008 single base substitution T C downstream_gene_variant ESAD-UK 18 153685 153685 single base substitution G A upstream_gene_variant ESAD-UK 18 153690 153690 single base substitution C T upstream_gene_variant ESAD-UK 18 153741 153741 single base substitution T A upstream_gene_variant ESAD-UK 18 154368 154368 single base substitution A C upstream_gene_variant ESAD-UK 18 155858 155858 single base substitution A G upstream_gene_variant ESAD-UK 18 158339 158339 single base substitution G A upstream_gene_variant ESAD-UK 18 159768 159768 single base substitution C T intron_variant ESAD-UK 18 159768 159768 single base substitution C T upstream_gene_variant ESAD-UK 18 160424 160424 single base substitution G A intron_variant ESAD-UK 18 160424 160424 single base substitution G A upstream_gene_variant ESAD-UK 18 162465 162465 single base substitution G T intron_variant ESAD-UK 18 162465 162465 single base substitution G T upstream_gene_variant ESAD-UK 18 163491 163491 single base substitution T C downstream_gene_variant ESAD-UK 18 163491 163491 single base substitution T C intron_variant ESAD-UK 18 163881 163881 single base substitution C G downstream_gene_variant ESAD-UK 18 163881 163881 single base substitution C G intron_variant ESAD-UK 18 164486 164486 single base substitution C T downstream_gene_variant ESAD-UK 18 164486 164486 single base substitution C T intron_variant ESAD-UK 18 166201 166201 deletion of <=200bp T - downstream_gene_variant ESAD-UK 18 166201 166201 deletion of <=200bp T - intron_variant ESAD-UK 18 166567 166567 single base substitution A G downstream_gene_variant ESAD-UK 18 166567 166567 single base substitution A G intron_variant ESAD-UK 18 166667 166667 single base substitution A C downstream_gene_variant ESAD-UK 18 166667 166667 single base substitution A C intron_variant ESAD-UK 18 168388 168388 single base substitution C T downstream_gene_variant ESAD-UK 18 168388 168388 single base substitution C T intron_variant ESAD-UK 18 173030 173030 single base substitution G A intron_variant ESAD-UK 18 173168 173168 single base substitution G T intron_variant ESAD-UK 18 174932 174932 single base substitution C T intron_variant ESAD-UK 18 181410 181410 deletion of <=200bp T - intron_variant ESAD-UK 18 182226 182226 single base substitution G T intron_variant ESAD-UK 18 182423 182423 single base substitution G C intron_variant ESAD-UK 18 183515 183515 single base substitution G T intron_variant ESAD-UK 18 184748 184748 single base substitution A G intron_variant ESAD-UK 18 185383 185383 single base substitution C T intron_variant ESAD-UK 18 185481 185481 single base substitution G A intron_variant ESAD-UK 18 188397 188397 single base substitution C T intron_variant ESAD-UK 18 188764 188764 single base substitution G A intron_variant ESAD-UK 18 189424 189424 single base substitution G A intron_variant ESAD-UK 18 190926 190926 single base substitution T A intron_variant ESAD-UK 18 191223 191223 single base substitution A C intron_variant ESAD-UK 18 192945 192945 single base substitution C T intron_variant ESAD-UK 18 192945 192945 single base substitution C T upstream_gene_variant ESAD-UK 18 193112 193112 insertion of <=200bp - T intron_variant ESAD-UK 18 193112 193112 insertion of <=200bp - T upstream_gene_variant ESAD-UK 18 194942 194942 deletion of <=200bp T - intron_variant ESAD-UK 18 194942 194942 deletion of <=200bp T - upstream_gene_variant ESAD-UK 18 196159 196159 deletion of <=200bp A - intron_variant ESAD-UK 18 196159 196159 deletion of <=200bp A - upstream_gene_variant ESAD-UK 18 196617 196617 single base substitution A G exon_variant ESAD-UK 18 196617 196617 single base substitution A G intron_variant ESAD-UK 18 197761 197761 single base substitution T C intron_variant ESAD-UK 18 198088 198088 single base substitution G T 3_prime_UTR_variant ESAD-UK 18 198088 198088 single base substitution G T exon_variant ESAD-UK 18 198088 198088 single base substitution G T missense_variant K193N 579G>T ESAD-UK 18 198088 198088 single base substitution G T missense_variant K204N 612G>T ESAD-UK 18 198088 198088 single base substitution G T missense_variant K228N 684G>T ESAD-UK 18 198088 198088 single base substitution G T missense_variant K239N 717G>T ESAD-UK 18 198089 198089 single base substitution A T 3_prime_UTR_variant ESAD-UK 18 198089 198089 single base substitution A T exon_variant ESAD-UK 18 198089 198089 single base substitution A T stop_gained K194* 580A>T ESAD-UK 18 198089 198089 single base substitution A T stop_gained K205* 613A>T ESAD-UK 18 198089 198089 single base substitution A T stop_gained K229* 685A>T ESAD-UK 18 198089 198089 single base substitution A T stop_gained K240* 718A>T ESAD-UK 18 198432 198432 single base substitution C A downstream_gene_variant ESAD-UK 18 198432 198432 single base substitution C A intron_variant ESAD-UK 18 204691 204691 single base substitution C G missense_variant T342R 1025C>G ESAD-UK 18 204691 204691 single base substitution C G missense_variant T353R 1058C>G ESAD-UK 18 204691 204691 single base substitution C G missense_variant T377R 1130C>G ESAD-UK 18 204691 204691 single base substitution C G missense_variant T388R 1163C>G ESAD-UK 18 204691 204691 single base substitution C G splice_region_variant ESAD-UK 18 205456 205456 single base substitution G A intron_variant ESAD-UK 18 208436 208436 insertion of <=200bp - T intron_variant ESAD-UK 18 208439 208439 single base substitution G T intron_variant ESAD-UK 18 209578 209578 single base substitution G C intron_variant ESAD-UK 18 211063 211063 deletion of <=200bp T - intron_variant ESAD-UK 18 212032 212032 insertion of <=200bp - T 3_prime_UTR_variant ESAD-UK 18 212032 212032 insertion of <=200bp - T downstream_gene_variant ESAD-UK 18 212032 212032 insertion of <=200bp - T exon_variant ESAD-UK 18 214540 214540 single base substitution G A 3_prime_UTR_variant ESAD-UK 18 214540 214540 single base substitution G A downstream_gene_variant ESAD-UK 18 215958 215958 single base substitution G A downstream_gene_variant ESAD-UK 18 216408 216408 deletion of <=200bp T - downstream_gene_variant ESAD-UK 18 217975 217975 single base substitution G A downstream_gene_variant ESAD-UK 18 218711 218711 single base substitution A G downstream_gene_variant ESCA-CN 18 196523 196523 insertion of <=200bp - A intron_variant ESCA-CN 18 196523 196523 insertion of <=200bp - A upstream_gene_variant ESCA-CN 18 198119 198119 single base substitution G C downstream_gene_variant ESCA-CN 18 198119 198119 single base substitution G C exon_variant ESCA-CN 18 198119 198119 single base substitution G C missense_variant E204Q 610G>C ESCA-CN 18 198119 198119 single base substitution G C missense_variant E215Q 643G>C ESCA-CN 18 198119 198119 single base substitution G C missense_variant E239Q 715G>C ESCA-CN 18 198119 198119 single base substitution G C missense_variant E250Q 748G>C KIRC-US 18 214641 214641 single base substitution A C downstream_gene_variant KIRP-US 18 163336 163336 single base substitution T G 5_prime_UTR_premature_start_codon_gain_variant KIRP-US 18 163336 163336 single base substitution T G exon_variant KIRP-US 18 163336 163336 single base substitution T G missense_variant F15L 45T>G KIRP-US 18 163336 163336 single base substitution T G upstream_gene_variant LAML-KR 18 153766 153766 single base substitution C G upstream_gene_variant LAML-KR 18 153770 153770 single base substitution C T upstream_gene_variant LAML-KR 18 153771 153771 single base substitution A G upstream_gene_variant LAML-KR 18 180795 180795 single base substitution C T intron_variant LAML-KR 18 180799 180799 single base substitution C T intron_variant LAML-KR 18 180991 180991 single base substitution T C intron_variant LAML-KR 18 181051 181051 single base substitution T C intron_variant LAML-KR 18 181055 181055 single base substitution T C intron_variant LAML-KR 18 204815 204815 single base substitution T A intron_variant LGG-US 18 202880 202880 single base substitution C T downstream_gene_variant LGG-US 18 202880 202880 single base substitution C T splice_region_variant LGG-US 18 202880 202880 single base substitution C T stop_gained R247* 739C>T LGG-US 18 202880 202880 single base substitution C T stop_gained R258* 772C>T LGG-US 18 202880 202880 single base substitution C T stop_gained R282* 844C>T LGG-US 18 202880 202880 single base substitution C T stop_gained R293* 877C>T LGG-US 18 214519 214519 insertion of <=200bp - TTG 3_prime_UTR_variant LGG-US 18 214519 214519 insertion of <=200bp - TTG downstream_gene_variant LICA-CN 18 204651 204651 single base substitution A T exon_variant LICA-CN 18 204651 204651 single base substitution A T stop_gained K329* 985A>T LICA-CN 18 204651 204651 single base substitution A T stop_gained K340* 1018A>T LICA-CN 18 204651 204651 single base substitution A T stop_gained K364* 1090A>T LICA-CN 18 204651 204651 single base substitution A T stop_gained K375* 1123A>T LICA-CN 18 216567 216567 single base substitution G A downstream_gene_variant LICA-FR 18 162584 162584 single base substitution C G intron_variant LICA-FR 18 162584 162584 single base substitution C G upstream_gene_variant LICA-FR 18 165817 165817 single base substitution A G downstream_gene_variant LICA-FR 18 165817 165817 single base substitution A G intron_variant LICA-FR 18 170316 170316 single base substitution A G intron_variant LICA-FR 18 180927 180927 single base substitution C T intron_variant LICA-FR 18 181055 181055 single base substitution T C intron_variant LICA-FR 18 213659 213659 single base substitution A G 3_prime_UTR_variant LICA-FR 18 213659 213659 single base substitution A G downstream_gene_variant LIHC-US 18 210405 210405 single base substitution T C exon_variant LIHC-US 18 210405 210405 single base substitution T C synonymous_variant C369C 1107T>C LIHC-US 18 210405 210405 single base substitution T C synonymous_variant C380C 1140T>C LIHC-US 18 210405 210405 single base substitution T C synonymous_variant C404C 1212T>C LIHC-US 18 210405 210405 single base substitution T C synonymous_variant C415C 1245T>C LINC-JP 18 158562 158562 single base substitution A T 5_prime_UTR_variant LINC-JP 18 158562 158562 single base substitution A T exon_variant LINC-JP 18 158562 158562 single base substitution A T upstream_gene_variant LINC-JP 18 166854 166854 single base substitution A G downstream_gene_variant LINC-JP 18 166854 166854 single base substitution A G intron_variant LINC-JP 18 166987 166987 single base substitution A T downstream_gene_variant LINC-JP 18 166987 166987 single base substitution A T intron_variant LINC-JP 18 200804 200804 single base substitution T C downstream_gene_variant LINC-JP 18 200804 200804 single base substitution T C intron_variant LINC-JP 18 202081 202081 single base substitution G C downstream_gene_variant LINC-JP 18 202081 202081 single base substitution G C intron_variant LINC-JP 18 203200 203200 single base substitution G A intron_variant LINC-JP 18 204882 204892 deletion of <=200bp GTTTTGCATGT - intron_variant LINC-JP 18 204905 204905 deletion of <=200bp T - intron_variant LINC-JP 18 209935 209935 single base substitution A G intron_variant LINC-JP 18 210549 210549 single base substitution T C intron_variant LINC-JP 18 215496 215496 deletion of <=200bp A - downstream_gene_variant LINC-JP 18 216345 216345 deletion of <=200bp T - downstream_gene_variant LINC-JP 18 219008 219008 single base substitution T C downstream_gene_variant LINC-JP 18 219104 219104 single base substitution C T downstream_gene_variant LIRI-JP 18 156478 156478 single base substitution A G upstream_gene_variant LIRI-JP 18 166169 166169 single base substitution A T downstream_gene_variant LIRI-JP 18 166169 166169 single base substitution A T intron_variant LIRI-JP 18 183012 183012 single base substitution C T intron_variant LIRI-JP 18 183945 183945 single base substitution A G intron_variant LIRI-JP 18 187157 187157 single base substitution G A intron_variant LIRI-JP 18 187458 187458 single base substitution A G intron_variant LIRI-JP 18 192807 192807 single base substitution A G intron_variant LIRI-JP 18 192807 192807 single base substitution A G upstream_gene_variant LIRI-JP 18 196558 196558 single base substitution A G exon_variant LIRI-JP 18 196558 196558 single base substitution A G intron_variant LIRI-JP 18 201546 201546 single base substitution C T downstream_gene_variant LIRI-JP 18 201546 201546 single base substitution C T intron_variant LIRI-JP 18 201806 201806 single base substitution G C downstream_gene_variant LIRI-JP 18 201806 201806 single base substitution G C intron_variant LIRI-JP 18 202614 202614 single base substitution G A downstream_gene_variant LIRI-JP 18 202614 202614 single base substitution G A intron_variant LIRI-JP 18 209446 209446 single base substitution G C intron_variant LIRI-JP 18 210174 210174 single base substitution A G exon_variant LIRI-JP 18 210174 210174 single base substitution A G intron_variant LIRI-JP 18 212782 212808 deletion of <=200bp TAGAATACCAGCCAGTTTGGCTCTGAT - 3_prime_UTR_variant LIRI-JP 18 212782 212808 deletion of <=200bp TAGAATACCAGCCAGTTTGGCTCTGAT - downstream_gene_variant LIRI-JP 18 213854 213854 single base substitution G A 3_prime_UTR_variant LIRI-JP 18 213854 213854 single base substitution G A downstream_gene_variant LIRI-JP 18 214187 214187 single base substitution A C 3_prime_UTR_variant LIRI-JP 18 214187 214187 single base substitution A C downstream_gene_variant LIRI-JP 18 217522 217522 single base substitution A C downstream_gene_variant LIRI-JP 18 217657 217657 single base substitution G T downstream_gene_variant LUSC-KR 18 153576 153576 single base substitution T C upstream_gene_variant LUSC-KR 18 156836 156836 single base substitution T A upstream_gene_variant LUSC-KR 18 159793 159793 single base substitution C T intron_variant LUSC-KR 18 159793 159793 single base substitution C T upstream_gene_variant LUSC-KR 18 159794 159794 single base substitution G T intron_variant LUSC-KR 18 159794 159794 single base substitution G T upstream_gene_variant LUSC-KR 18 159987 159987 single base substitution A G intron_variant LUSC-KR 18 159987 159987 single base substitution A G upstream_gene_variant LUSC-KR 18 173458 173458 single base substitution C T intron_variant LUSC-KR 18 179585 179585 single base substitution G T intron_variant LUSC-KR 18 180062 180062 single base substitution T C intron_variant LUSC-KR 18 180256 180256 single base substitution G A 3_prime_UTR_variant LUSC-KR 18 180256 180256 single base substitution G A exon_variant LUSC-KR 18 180256 180256 single base substitution G A synonymous_variant L107L 321G>A LUSC-KR 18 180256 180256 single base substitution G A synonymous_variant L61L 183G>A LUSC-KR 18 180256 180256 single base substitution G A synonymous_variant L72L 216G>A LUSC-KR 18 180256 180256 single base substitution G A synonymous_variant L96L 288G>A LUSC-KR 18 182815 182815 single base substitution G A intron_variant LUSC-KR 18 184737 184737 single base substitution C T intron_variant LUSC-KR 18 189549 189549 single base substitution C A intron_variant LUSC-KR 18 194521 194521 single base substitution G A intron_variant LUSC-KR 18 194521 194521 single base substitution G A upstream_gene_variant LUSC-KR 18 198280 198280 single base substitution C T downstream_gene_variant LUSC-KR 18 198280 198280 single base substitution C T intron_variant LUSC-KR 18 205534 205534 single base substitution G A intron_variant LUSC-US 18 210396 210396 single base substitution C A exon_variant LUSC-US 18 210396 210396 single base substitution C A synonymous_variant S366S 1098C>A LUSC-US 18 210396 210396 single base substitution C A synonymous_variant S377S 1131C>A LUSC-US 18 210396 210396 single base substitution C A synonymous_variant S401S 1203C>A LUSC-US 18 210396 210396 single base substitution C A synonymous_variant S412S 1236C>A LUSC-US 18 215489 215489 single base substitution T C downstream_gene_variant MALY-DE 18 158952 158952 single base substitution G A 5_prime_UTR_variant MALY-DE 18 158952 158952 single base substitution G A intron_variant MALY-DE 18 158952 158952 single base substitution G A upstream_gene_variant MALY-DE 18 174721 174721 single base substitution C T intron_variant MALY-DE 18 176425 176425 single base substitution C T intron_variant MALY-DE 18 184598 184601 deletion of <=200bp ACAA - intron_variant MALY-DE 18 186106 186106 single base substitution T G intron_variant MALY-DE 18 186921 186921 single base substitution G A intron_variant MALY-DE 18 196355 196360 deletion of <=200bp AAAAAA - intron_variant MALY-DE 18 196355 196360 deletion of <=200bp AAAAAA - upstream_gene_variant MALY-DE 18 199052 199052 single base substitution T A downstream_gene_variant MALY-DE 18 199052 199052 single base substitution T A intron_variant MALY-DE 18 209500 209500 single base substitution A T intron_variant MALY-DE 18 211791 211791 single base substitution C T 3_prime_UTR_variant MALY-DE 18 211791 211791 single base substitution C T downstream_gene_variant MALY-DE 18 211791 211791 single base substitution C T exon_variant MALY-DE 18 214085 214085 single base substitution T C 3_prime_UTR_variant MALY-DE 18 214085 214085 single base substitution T C downstream_gene_variant MALY-DE 18 214494 214494 single base substitution C T 3_prime_UTR_variant MALY-DE 18 214494 214494 single base substitution C T downstream_gene_variant MELA-AU 18 153696 153696 single base substitution G A upstream_gene_variant MELA-AU 18 153974 153974 single base substitution C T upstream_gene_variant MELA-AU 18 154292 154292 single base substitution C T upstream_gene_variant MELA-AU 18 155337 155337 single base substitution C T upstream_gene_variant MELA-AU 18 155820 155820 single base substitution C T upstream_gene_variant MELA-AU 18 156313 156313 single base substitution T C upstream_gene_variant MELA-AU 18 156522 156522 single base substitution C T upstream_gene_variant MELA-AU 18 156793 156793 single base substitution T A upstream_gene_variant MELA-AU 18 157105 157105 single base substitution G A upstream_gene_variant MELA-AU 18 157158 157158 single base substitution T C upstream_gene_variant MELA-AU 18 157406 157406 single base substitution A C upstream_gene_variant MELA-AU 18 157875 157875 single base substitution G A upstream_gene_variant MELA-AU 18 158403 158403 single base substitution C T 5_prime_UTR_variant MELA-AU 18 158403 158403 single base substitution C T upstream_gene_variant MELA-AU 18 158432 158432 single base substitution C T 5_prime_UTR_variant MELA-AU 18 158432 158432 single base substitution C T upstream_gene_variant MELA-AU 18 158458 158459 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 18 158458 158459 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 18 159501 159501 single base substitution T G intron_variant MELA-AU 18 159501 159501 single base substitution T G upstream_gene_variant MELA-AU 18 160877 160877 single base substitution T C intron_variant MELA-AU 18 160877 160877 single base substitution T C upstream_gene_variant MELA-AU 18 161259 161259 single base substitution C T intron_variant MELA-AU 18 161259 161259 single base substitution C T upstream_gene_variant MELA-AU 18 162254 162254 single base substitution C T intron_variant MELA-AU 18 162254 162254 single base substitution C T upstream_gene_variant MELA-AU 18 162683 162683 single base substitution C T intron_variant MELA-AU 18 162683 162683 single base substitution C T upstream_gene_variant MELA-AU 18 163907 163907 single base substitution T G downstream_gene_variant MELA-AU 18 163907 163907 single base substitution T G intron_variant MELA-AU 18 164742 164742 single base substitution C T downstream_gene_variant MELA-AU 18 164742 164742 single base substitution C T intron_variant MELA-AU 18 165160 165160 single base substitution G A downstream_gene_variant MELA-AU 18 165160 165160 single base substitution G A intron_variant MELA-AU 18 165337 165337 single base substitution G A downstream_gene_variant MELA-AU 18 165337 165337 single base substitution G A intron_variant MELA-AU 18 167033 167033 single base substitution T C downstream_gene_variant MELA-AU 18 167033 167033 single base substitution T C intron_variant MELA-AU 18 167660 167660 single base substitution C T downstream_gene_variant MELA-AU 18 167660 167660 single base substitution C T intron_variant MELA-AU 18 169317 169317 single base substitution C G intron_variant MELA-AU 18 169943 169943 single base substitution C T intron_variant MELA-AU 18 170558 170558 single base substitution A T intron_variant MELA-AU 18 170568 170568 single base substitution C A intron_variant MELA-AU 18 171276 171276 single base substitution C T intron_variant MELA-AU 18 171542 171542 single base substitution C T intron_variant MELA-AU 18 171714 171714 single base substitution C T intron_variant MELA-AU 18 171768 171768 single base substitution G A intron_variant MELA-AU 18 171980 171980 single base substitution C T intron_variant MELA-AU 18 173261 173261 single base substitution C T intron_variant MELA-AU 18 173502 173502 single base substitution C T intron_variant MELA-AU 18 173519 173519 single base substitution C G intron_variant MELA-AU 18 174310 174310 single base substitution G A intron_variant MELA-AU 18 174336 174336 single base substitution G A intron_variant MELA-AU 18 174379 174379 single base substitution C T intron_variant MELA-AU 18 174491 174491 single base substitution C T intron_variant MELA-AU 18 174903 174903 single base substitution G A intron_variant MELA-AU 18 175571 175571 single base substitution C T intron_variant MELA-AU 18 175642 175642 single base substitution C T intron_variant MELA-AU 18 175657 175657 single base substitution T A intron_variant MELA-AU 18 175671 175671 single base substitution G C intron_variant MELA-AU 18 176715 176715 single base substitution A G intron_variant MELA-AU 18 177227 177227 single base substitution C T intron_variant MELA-AU 18 177306 177306 single base substitution C T intron_variant MELA-AU 18 177594 177594 single base substitution G A intron_variant MELA-AU 18 177655 177655 single base substitution C T intron_variant MELA-AU 18 179095 179095 single base substitution G T intron_variant MELA-AU 18 179444 179444 single base substitution C T intron_variant MELA-AU 18 181173 181173 single base substitution C T intron_variant MELA-AU 18 181984 181984 single base substitution C T intron_variant MELA-AU 18 182379 182379 single base substitution C T intron_variant MELA-AU 18 182446 182446 single base substitution A T intron_variant MELA-AU 18 183419 183419 single base substitution C T intron_variant MELA-AU 18 183899 183899 single base substitution T C intron_variant MELA-AU 18 184090 184090 single base substitution C T intron_variant MELA-AU 18 184373 184373 single base substitution C T intron_variant MELA-AU 18 185011 185011 single base substitution T G intron_variant MELA-AU 18 185098 185098 single base substitution C T intron_variant MELA-AU 18 185194 185194 single base substitution C T intron_variant MELA-AU 18 185777 185777 single base substitution C T intron_variant MELA-AU 18 186316 186316 single base substitution T C intron_variant MELA-AU 18 187297 187297 single base substitution C T intron_variant MELA-AU 18 188190 188190 single base substitution C T intron_variant MELA-AU 18 188196 188196 single base substitution A G intron_variant MELA-AU 18 188562 188562 single base substitution C T intron_variant MELA-AU 18 188602 188602 single base substitution T C intron_variant MELA-AU 18 189993 189993 single base substitution C T intron_variant MELA-AU 18 190181 190181 single base substitution C T intron_variant MELA-AU 18 191077 191077 single base substitution A G intron_variant MELA-AU 18 191353 191353 single base substitution T C intron_variant MELA-AU 18 193167 193167 single base substitution C T intron_variant MELA-AU 18 193167 193167 single base substitution C T upstream_gene_variant MELA-AU 18 194041 194041 single base substitution T C intron_variant MELA-AU 18 194041 194041 single base substitution T C upstream_gene_variant MELA-AU 18 194123 194123 single base substitution C T intron_variant MELA-AU 18 194123 194123 single base substitution C T upstream_gene_variant MELA-AU 18 194163 194163 single base substitution G A intron_variant MELA-AU 18 194163 194163 single base substitution G A upstream_gene_variant MELA-AU 18 194477 194477 single base substitution C T intron_variant MELA-AU 18 194477 194477 single base substitution C T upstream_gene_variant MELA-AU 18 194631 194631 single base substitution C T intron_variant MELA-AU 18 194631 194631 single base substitution C T upstream_gene_variant MELA-AU 18 195190 195190 single base substitution G A intron_variant MELA-AU 18 195190 195190 single base substitution G A upstream_gene_variant MELA-AU 18 196146 196146 single base substitution C T intron_variant MELA-AU 18 196146 196146 single base substitution C T upstream_gene_variant MELA-AU 18 197762 197762 single base substitution C T intron_variant MELA-AU 18 198896 198896 single base substitution G A downstream_gene_variant MELA-AU 18 198896 198896 single base substitution G A intron_variant MELA-AU 18 200517 200517 single base substitution G A downstream_gene_variant MELA-AU 18 200517 200517 single base substitution G A intron_variant MELA-AU 18 200834 200834 single base substitution C T downstream_gene_variant MELA-AU 18 200834 200834 single base substitution C T intron_variant MELA-AU 18 200912 200912 single base substitution C T downstream_gene_variant MELA-AU 18 200912 200912 single base substitution C T intron_variant MELA-AU 18 201028 201028 single base substitution C T downstream_gene_variant MELA-AU 18 201028 201028 single base substitution C T intron_variant MELA-AU 18 201086 201087 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 18 201086 201087 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 201514 201514 single base substitution C T downstream_gene_variant MELA-AU 18 201514 201514 single base substitution C T intron_variant MELA-AU 18 201628 201628 single base substitution C T downstream_gene_variant MELA-AU 18 201628 201628 single base substitution C T intron_variant MELA-AU 18 201934 201934 single base substitution C T downstream_gene_variant MELA-AU 18 201934 201934 single base substitution C T intron_variant MELA-AU 18 202566 202566 single base substitution T A downstream_gene_variant MELA-AU 18 202566 202566 single base substitution T A intron_variant MELA-AU 18 202897 202897 single base substitution C T downstream_gene_variant MELA-AU 18 202897 202897 single base substitution C T exon_variant MELA-AU 18 202897 202897 single base substitution C T synonymous_variant I252I 756C>T MELA-AU 18 202897 202897 single base substitution C T synonymous_variant I263I 789C>T MELA-AU 18 202897 202897 single base substitution C T synonymous_variant I287I 861C>T MELA-AU 18 202897 202897 single base substitution C T synonymous_variant I298I 894C>T MELA-AU 18 202908 202908 single base substitution C T downstream_gene_variant MELA-AU 18 202908 202908 single base substitution C T exon_variant MELA-AU 18 202908 202908 single base substitution C T missense_variant S256F 767C>T MELA-AU 18 202908 202908 single base substitution C T missense_variant S267F 800C>T MELA-AU 18 202908 202908 single base substitution C T missense_variant S291F 872C>T MELA-AU 18 202908 202908 single base substitution C T missense_variant S302F 905C>T MELA-AU 18 203082 203082 single base substitution C T downstream_gene_variant MELA-AU 18 203082 203082 single base substitution C T intron_variant MELA-AU 18 203933 203933 single base substitution C T intron_variant MELA-AU 18 204026 204026 single base substitution C T intron_variant MELA-AU 18 204786 204786 single base substitution C T intron_variant MELA-AU 18 205229 205229 single base substitution C T intron_variant MELA-AU 18 205286 205286 single base substitution C T intron_variant MELA-AU 18 205385 205385 single base substitution C T intron_variant MELA-AU 18 205715 205716 multiple base substitution (>=2bp and <=200bp) AT TA intron_variant MELA-AU 18 206616 206616 single base substitution C T intron_variant MELA-AU 18 206679 206679 single base substitution C T intron_variant MELA-AU 18 206888 206888 single base substitution C T intron_variant MELA-AU 18 207096 207096 single base substitution G A intron_variant MELA-AU 18 208236 208236 single base substitution A T intron_variant MELA-AU 18 208387 208387 single base substitution C T intron_variant MELA-AU 18 208433 208433 single base substitution G T intron_variant MELA-AU 18 209599 209599 single base substitution T C intron_variant MELA-AU 18 209655 209655 single base substitution C T intron_variant MELA-AU 18 210254 210254 single base substitution T G exon_variant MELA-AU 18 210254 210254 single base substitution T G intron_variant MELA-AU 18 210463 210463 single base substitution C T exon_variant MELA-AU 18 210463 210463 single base substitution C T missense_variant H389Y 1165C>T MELA-AU 18 210463 210463 single base substitution C T missense_variant H400Y 1198C>T MELA-AU 18 210463 210463 single base substitution C T missense_variant H424Y 1270C>T MELA-AU 18 210463 210463 single base substitution C T missense_variant H435Y 1303C>T MELA-AU 18 211183 211183 single base substitution G A exon_variant MELA-AU 18 211183 211183 single base substitution G A missense_variant D416N 1246G>A MELA-AU 18 211183 211183 single base substitution G A missense_variant D427N 1279G>A MELA-AU 18 211183 211183 single base substitution G A missense_variant D451N 1351G>A MELA-AU 18 211183 211183 single base substitution G A missense_variant D462N 1384G>A MELA-AU 18 212307 212307 single base substitution C T 3_prime_UTR_variant MELA-AU 18 212307 212307 single base substitution C T downstream_gene_variant MELA-AU 18 212307 212307 single base substitution C T exon_variant MELA-AU 18 212347 212347 single base substitution C T 3_prime_UTR_variant MELA-AU 18 212347 212347 single base substitution C T downstream_gene_variant MELA-AU 18 212347 212347 single base substitution C T exon_variant MELA-AU 18 214007 214007 single base substitution T A 3_prime_UTR_variant MELA-AU 18 214007 214007 single base substitution T A downstream_gene_variant MELA-AU 18 215583 215583 single base substitution C G downstream_gene_variant MELA-AU 18 215600 215600 single base substitution G A downstream_gene_variant MELA-AU 18 215811 215812 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 18 215851 215851 single base substitution T C downstream_gene_variant MELA-AU 18 216055 216055 single base substitution G T downstream_gene_variant MELA-AU 18 218406 218406 single base substitution A C downstream_gene_variant MELA-AU 18 218920 218920 single base substitution C T downstream_gene_variant MELA-AU 18 219008 219008 single base substitution T C downstream_gene_variant MELA-AU 18 219076 219076 single base substitution C A downstream_gene_variant ORCA-IN 18 154671 154671 single base substitution C T upstream_gene_variant ORCA-IN 18 169524 169524 single base substitution C T intron_variant ORCA-IN 18 175068 175068 single base substitution C T intron_variant ORCA-IN 18 186581 186581 single base substitution C T intron_variant ORCA-IN 18 194562 194562 single base substitution C T intron_variant ORCA-IN 18 194562 194562 single base substitution C T upstream_gene_variant ORCA-IN 18 197652 197652 single base substitution T C 3_prime_UTR_variant ORCA-IN 18 197652 197652 single base substitution T C exon_variant ORCA-IN 18 197652 197652 single base substitution T C synonymous_variant L165L 493T>C ORCA-IN 18 197652 197652 single base substitution T C synonymous_variant L176L 526T>C ORCA-IN 18 197652 197652 single base substitution T C synonymous_variant L200L 598T>C ORCA-IN 18 197652 197652 single base substitution T C synonymous_variant L211L 631T>C ORCA-IN 18 197680 197680 single base substitution A T 3_prime_UTR_variant ORCA-IN 18 197680 197680 single base substitution A T exon_variant ORCA-IN 18 197680 197680 single base substitution A T missense_variant D174V 521A>T ORCA-IN 18 197680 197680 single base substitution A T missense_variant D185V 554A>T ORCA-IN 18 197680 197680 single base substitution A T missense_variant D209V 626A>T ORCA-IN 18 197680 197680 single base substitution A T missense_variant D220V 659A>T OV-AU 18 154969 154969 single base substitution G T upstream_gene_variant OV-AU 18 155992 155992 single base substitution G C upstream_gene_variant OV-AU 18 156942 156942 single base substitution T C upstream_gene_variant OV-AU 18 162181 162181 single base substitution G T intron_variant OV-AU 18 162181 162181 single base substitution G T upstream_gene_variant OV-AU 18 166361 166361 single base substitution C G downstream_gene_variant OV-AU 18 166361 166361 single base substitution C G intron_variant OV-AU 18 169613 169613 single base substitution T G intron_variant OV-AU 18 176908 176908 single base substitution T A intron_variant OV-AU 18 203618 203618 single base substitution T C intron_variant OV-AU 18 208743 208743 single base substitution A G intron_variant OV-AU 18 210398 210398 single base substitution A G exon_variant OV-AU 18 210398 210398 single base substitution A G missense_variant N367S 1100A>G OV-AU 18 210398 210398 single base substitution A G missense_variant N378S 1133A>G OV-AU 18 210398 210398 single base substitution A G missense_variant N402S 1205A>G OV-AU 18 210398 210398 single base substitution A G missense_variant N413S 1238A>G OV-AU 18 218179 218179 single base substitution T C downstream_gene_variant PACA-AU 18 157682 157682 single base substitution G C upstream_gene_variant PACA-AU 18 157769 157769 single base substitution G A upstream_gene_variant PACA-AU 18 157770 157770 single base substitution G A upstream_gene_variant PACA-AU 18 157844 157844 single base substitution G T upstream_gene_variant PACA-AU 18 157956 157956 single base substitution T A upstream_gene_variant PACA-AU 18 158101 158101 single base substitution G A upstream_gene_variant PACA-AU 18 158326 158326 single base substitution G A upstream_gene_variant PACA-AU 18 169074 169074 single base substitution C G intron_variant PACA-AU 18 169203 169203 single base substitution C A intron_variant PACA-AU 18 169222 169222 single base substitution C T intron_variant PACA-AU 18 169224 169224 single base substitution C T intron_variant PACA-AU 18 170302 170302 single base substitution T C intron_variant PACA-AU 18 172668 172668 single base substitution C A intron_variant PACA-AU 18 177882 177882 single base substitution T A intron_variant PACA-AU 18 180202 180202 single base substitution G A intron_variant PACA-AU 18 189230 189230 single base substitution G T intron_variant PACA-AU 18 192058 192058 single base substitution A G intron_variant PACA-AU 18 192058 192058 single base substitution A G upstream_gene_variant PACA-AU 18 192253 192253 single base substitution T C intron_variant PACA-AU 18 192253 192253 single base substitution T C upstream_gene_variant PACA-AU 18 193173 193173 single base substitution G A intron_variant PACA-AU 18 193173 193173 single base substitution G A upstream_gene_variant PACA-AU 18 194036 194036 single base substitution A C intron_variant PACA-AU 18 194036 194036 single base substitution A C upstream_gene_variant PACA-AU 18 195455 195455 single base substitution G C intron_variant PACA-AU 18 195455 195455 single base substitution G C upstream_gene_variant PACA-AU 18 199289 199289 deletion of <=200bp C - downstream_gene_variant PACA-AU 18 199289 199289 deletion of <=200bp C - exon_variant PACA-AU 18 199289 199289 deletion of <=200bp C - frameshift_variant V237 PACA-AU 18 199289 199289 deletion of <=200bp C - frameshift_variant V248 PACA-AU 18 199289 199289 deletion of <=200bp C - frameshift_variant V272 PACA-AU 18 199289 199289 deletion of <=200bp C - frameshift_variant V283 PACA-AU 18 203444 203444 single base substitution G T intron_variant PACA-AU 18 212032 212032 single base substitution A T 3_prime_UTR_variant PACA-AU 18 212032 212032 single base substitution A T downstream_gene_variant PACA-AU 18 212032 212032 single base substitution A T exon_variant PACA-CA 18 153793 153793 single base substitution G A upstream_gene_variant PACA-CA 18 155995 155995 single base substitution G A upstream_gene_variant PACA-CA 18 156956 156956 single base substitution C G upstream_gene_variant PACA-CA 18 157022 157022 single base substitution G A upstream_gene_variant PACA-CA 18 157275 157275 single base substitution C T upstream_gene_variant PACA-CA 18 157408 157408 single base substitution T A upstream_gene_variant PACA-CA 18 162214 162214 single base substitution A G intron_variant PACA-CA 18 162214 162214 single base substitution A G upstream_gene_variant PACA-CA 18 163560 163560 single base substitution T A downstream_gene_variant PACA-CA 18 163560 163560 single base substitution T A intron_variant PACA-CA 18 164422 164422 single base substitution T G downstream_gene_variant PACA-CA 18 164422 164422 single base substitution T G intron_variant PACA-CA 18 164956 164956 single base substitution A T downstream_gene_variant PACA-CA 18 164956 164956 single base substitution A T intron_variant PACA-CA 18 165248 165248 single base substitution C G downstream_gene_variant PACA-CA 18 165248 165248 single base substitution C G intron_variant PACA-CA 18 168445 168445 deletion of <=200bp T - downstream_gene_variant PACA-CA 18 168445 168445 deletion of <=200bp T - intron_variant PACA-CA 18 173292 173292 single base substitution T A intron_variant PACA-CA 18 176139 176139 single base substitution T C intron_variant PACA-CA 18 184056 184056 single base substitution T C intron_variant PACA-CA 18 186280 186280 single base substitution G C intron_variant PACA-CA 18 186357 186357 single base substitution G C intron_variant PACA-CA 18 186536 186536 single base substitution G A intron_variant PACA-CA 18 186574 186574 single base substitution G A intron_variant PACA-CA 18 187910 187910 single base substitution G C intron_variant PACA-CA 18 197245 197245 single base substitution G T intron_variant PACA-CA 18 204989 204989 single base substitution C G intron_variant PACA-CA 18 205456 205456 single base substitution G A intron_variant PACA-CA 18 205709 205709 single base substitution A G intron_variant PACA-CA 18 208629 208629 single base substitution C T intron_variant PACA-CA 18 209135 209135 single base substitution C T intron_variant PACA-CA 18 209169 209169 single base substitution C T intron_variant PACA-CA 18 209594 209594 deletion of <=200bp T - intron_variant PACA-CA 18 214513 214515 deletion of <=200bp ACA - 3_prime_UTR_variant PACA-CA 18 214513 214515 deletion of <=200bp ACA - downstream_gene_variant PACA-CA 18 215299 215299 single base substitution A T downstream_gene_variant PACA-CA 18 215472 215472 single base substitution A T downstream_gene_variant PACA-CA 18 218335 218335 single base substitution T C downstream_gene_variant PAEN-IT 18 184862 184862 single base substitution A T intron_variant PAEN-IT 18 195750 195750 single base substitution G C intron_variant PAEN-IT 18 195750 195750 single base substitution G C upstream_gene_variant PAEN-IT 18 218581 218581 single base substitution G A downstream_gene_variant PBCA-DE 18 153602 153602 single base substitution C A upstream_gene_variant PBCA-DE 18 155615 155615 single base substitution T A upstream_gene_variant PBCA-DE 18 168169 168169 single base substitution G A downstream_gene_variant PBCA-DE 18 168169 168169 single base substitution G A intron_variant PBCA-DE 18 175580 175580 single base substitution G C intron_variant PBCA-DE 18 186830 186830 deletion of <=200bp T - intron_variant PBCA-DE 18 189580 189580 single base substitution T C intron_variant PBCA-DE 18 195206 195206 insertion of <=200bp - T intron_variant PBCA-DE 18 195206 195206 insertion of <=200bp - T upstream_gene_variant PBCA-DE 18 196355 196355 deletion of <=200bp A - intron_variant PBCA-DE 18 196355 196355 deletion of <=200bp A - upstream_gene_variant PBCA-DE 18 212843 212843 single base substitution A C 3_prime_UTR_variant PBCA-DE 18 212843 212843 single base substitution A C downstream_gene_variant PRAD-CA 18 159907 159907 single base substitution G C intron_variant PRAD-CA 18 159907 159907 single base substitution G C upstream_gene_variant PRAD-CA 18 165763 165763 single base substitution A G downstream_gene_variant PRAD-CA 18 165763 165763 single base substitution A G intron_variant PRAD-CA 18 173371 173371 single base substitution A G intron_variant PRAD-CA 18 176252 176252 single base substitution T G intron_variant PRAD-CA 18 180671 180671 single base substitution C T intron_variant PRAD-CA 18 180851 180851 single base substitution A T intron_variant PRAD-CA 18 190402 190402 single base substitution C G intron_variant PRAD-CA 18 211566 211566 single base substitution C T 3_prime_UTR_variant PRAD-CA 18 211566 211566 single base substitution C T downstream_gene_variant PRAD-CA 18 211566 211566 single base substitution C T exon_variant PRAD-UK 18 169819 169840 deletion of <=200bp ATGTCAAGTATGTTGATCTTTG - intron_variant PRAD-UK 18 177093 177093 single base substitution C T intron_variant PRAD-UK 18 178096 178096 single base substitution C G intron_variant PRAD-UK 18 217108 217108 single base substitution C T downstream_gene_variant RECA-EU 18 172921 172921 single base substitution T G intron_variant RECA-EU 18 173065 173065 single base substitution G T intron_variant RECA-EU 18 176726 176726 single base substitution G C intron_variant RECA-EU 18 187489 187489 single base substitution G C intron_variant RECA-EU 18 189440 189440 single base substitution A G intron_variant RECA-EU 18 200890 200890 single base substitution C T downstream_gene_variant RECA-EU 18 200890 200890 single base substitution C T intron_variant RECA-EU 18 208642 208642 single base substitution T A intron_variant RECA-EU 18 217981 217981 single base substitution T G downstream_gene_variant RECA-EU 18 219072 219072 single base substitution A G downstream_gene_variant RECA-EU 18 219104 219104 single base substitution C T downstream_gene_variant SKCA-BR 18 154577 154577 single base substitution G A upstream_gene_variant SKCA-BR 18 154884 154884 single base substitution G T upstream_gene_variant SKCA-BR 18 157950 157950 single base substitution T A upstream_gene_variant SKCA-BR 18 158428 158428 single base substitution T C 5_prime_UTR_variant SKCA-BR 18 158428 158428 single base substitution T C upstream_gene_variant SKCA-BR 18 160887 160887 single base substitution A G intron_variant SKCA-BR 18 160887 160887 single base substitution A G upstream_gene_variant SKCA-BR 18 162802 162802 insertion of <=200bp - CT intron_variant SKCA-BR 18 162802 162802 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 18 163695 163695 single base substitution T A downstream_gene_variant SKCA-BR 18 163695 163695 single base substitution T A intron_variant SKCA-BR 18 163817 163817 insertion of <=200bp - GT downstream_gene_variant SKCA-BR 18 163817 163817 insertion of <=200bp - GT intron_variant SKCA-BR 18 164536 164536 single base substitution C T downstream_gene_variant SKCA-BR 18 164536 164536 single base substitution C T intron_variant SKCA-BR 18 166311 166311 single base substitution T A downstream_gene_variant SKCA-BR 18 166311 166311 single base substitution T A intron_variant SKCA-BR 18 171027 171027 single base substitution T A intron_variant SKCA-BR 18 174187 174187 single base substitution C T intron_variant SKCA-BR 18 174268 174269 deletion of <=200bp CT - intron_variant SKCA-BR 18 174755 174755 single base substitution C T intron_variant SKCA-BR 18 174756 174756 single base substitution C T intron_variant SKCA-BR 18 176376 176376 single base substitution C T intron_variant SKCA-BR 18 177633 177633 insertion of <=200bp - GT intron_variant SKCA-BR 18 178004 178004 insertion of <=200bp - GTGTT intron_variant SKCA-BR 18 178216 178216 single base substitution C T intron_variant SKCA-BR 18 179586 179587 deletion of <=200bp CT - intron_variant SKCA-BR 18 179848 179848 single base substitution A C intron_variant SKCA-BR 18 181053 181053 single base substitution C T intron_variant SKCA-BR 18 185860 185861 deletion of <=200bp AT - intron_variant SKCA-BR 18 186340 186340 single base substitution C T intron_variant SKCA-BR 18 188236 188236 single base substitution C T intron_variant SKCA-BR 18 191658 191658 single base substitution C T intron_variant SKCA-BR 18 191658 191658 single base substitution C T upstream_gene_variant SKCA-BR 18 193393 193393 single base substitution G A intron_variant SKCA-BR 18 193393 193393 single base substitution G A upstream_gene_variant SKCA-BR 18 194764 194764 single base substitution C T intron_variant SKCA-BR 18 194764 194764 single base substitution C T upstream_gene_variant SKCA-BR 18 195644 195644 single base substitution T G intron_variant SKCA-BR 18 195644 195644 single base substitution T G upstream_gene_variant SKCA-BR 18 201989 201989 single base substitution C T downstream_gene_variant SKCA-BR 18 201989 201989 single base substitution C T intron_variant SKCA-BR 18 207886 207886 single base substitution G A intron_variant SKCA-BR 18 208010 208010 single base substitution T A intron_variant SKCA-BR 18 211007 211007 single base substitution T G intron_variant SKCA-BR 18 212601 212601 insertion of <=200bp - CA 3_prime_UTR_variant SKCA-BR 18 212601 212601 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 18 212601 212601 insertion of <=200bp - CA exon_variant SKCA-BR 18 213808 213808 single base substitution T G 3_prime_UTR_variant SKCA-BR 18 213808 213808 single base substitution T G downstream_gene_variant SKCA-BR 18 213963 213963 insertion of <=200bp - AAGATAGATTAGAT 3_prime_UTR_variant SKCA-BR 18 213963 213963 insertion of <=200bp - AAGATAGATTAGAT downstream_gene_variant SKCA-BR 18 213975 213975 insertion of <=200bp - TAGA 3_prime_UTR_variant SKCA-BR 18 213975 213975 insertion of <=200bp - TAGA downstream_gene_variant SKCA-BR 18 217379 217379 single base substitution G A downstream_gene_variant SKCA-BR 18 218812 218812 single base substitution C T downstream_gene_variant SKCA-BR 18 218950 218950 single base substitution C T downstream_gene_variant SKCA-BR 18 218951 218951 single base substitution C T downstream_gene_variant SKCA-BR 18 219172 219172 insertion of <=200bp - CA downstream_gene_variant SKCM-US 18 163367 163367 single base substitution C T 5_prime_UTR_variant SKCM-US 18 163367 163367 single base substitution C T exon_variant SKCM-US 18 163367 163367 single base substitution C T missense_variant P26S 76C>T SKCM-US 18 163367 163367 single base substitution C T upstream_gene_variant STAD-US 18 196733 196733 single base substitution C T 3_prime_UTR_variant STAD-US 18 196733 196733 single base substitution C T exon_variant STAD-US 18 196733 196733 single base substitution C T missense_variant A141V 422C>T STAD-US 18 196733 196733 single base substitution C T missense_variant A152V 455C>T STAD-US 18 196733 196733 single base substitution C T missense_variant A176V 527C>T STAD-US 18 196733 196733 single base substitution C T missense_variant A187V 560C>T STAD-US 18 203146 203146 insertion of <=200bp - T exon_variant STAD-US 18 203146 203146 insertion of <=200bp - T frameshift_variant F285F? STAD-US 18 203146 203146 insertion of <=200bp - T frameshift_variant F296F? STAD-US 18 203146 203146 insertion of <=200bp - T frameshift_variant F320F? STAD-US 18 203146 203146 insertion of <=200bp - T frameshift_variant F331F? STAD-US 18 209989 209989 deletion of <=200bp C - exon_variant STAD-US 18 209989 209989 deletion of <=200bp C - frameshift_variant P349 STAD-US 18 209989 209989 deletion of <=200bp C - frameshift_variant P360 STAD-US 18 209989 209989 deletion of <=200bp C - frameshift_variant P384 STAD-US 18 209989 209989 deletion of <=200bp C - frameshift_variant P395 STAD-US 18 211160 211160 single base substitution A C exon_variant STAD-US 18 211160 211160 single base substitution A C missense_variant K408T 1223A>C STAD-US 18 211160 211160 single base substitution A C missense_variant K419T 1256A>C STAD-US 18 211160 211160 single base substitution A C missense_variant K443T 1328A>C STAD-US 18 211160 211160 single base substitution A C missense_variant K454T 1361A>C STAD-US 18 211172 211172 single base substitution T C exon_variant STAD-US 18 211172 211172 single base substitution T C missense_variant V412A 1235T>C STAD-US 18 211172 211172 single base substitution T C missense_variant V423A 1268T>C STAD-US 18 211172 211172 single base substitution T C missense_variant V447A 1340T>C STAD-US 18 211172 211172 single base substitution T C missense_variant V458A 1373T>C STAD-US 18 211247 211247 single base substitution G A exon_variant STAD-US 18 211247 211247 single base substitution G A missense_variant R437H 1310G>A STAD-US 18 211247 211247 single base substitution G A missense_variant R448H 1343G>A STAD-US 18 211247 211247 single base substitution G A missense_variant R472H 1415G>A STAD-US 18 211247 211247 single base substitution G A missense_variant R483H 1448G>A STAD-US 18 214854 214854 single base substitution A C downstream_gene_variant STAD-US 18 215507 215507 deletion of <=200bp A - downstream_gene_variant STAD-US 18 216495 216495 single base substitution C A downstream_gene_variant STAD-US 18 216529 216529 single base substitution T C downstream_gene_variant UCEC-US 18 166795 166795 single base substitution T A downstream_gene_variant UCEC-US 18 166795 166795 single base substitution T A exon_variant UCEC-US 18 166795 166795 single base substitution T A intron_variant UCEC-US 18 166795 166795 single base substitution T A missense_variant D57E 171T>A UCEC-US 18 178938 178938 single base substitution G T exon_variant UCEC-US 18 178938 178938 single base substitution G T intron_variant UCEC-US 18 178938 178938 single base substitution G T missense_variant M56I 168G>T UCEC-US 18 178938 178938 single base substitution G T missense_variant M67I 201G>T UCEC-US 18 203144 203144 single base substitution G A exon_variant UCEC-US 18 203144 203144 single base substitution G A missense_variant R284Q 851G>A UCEC-US 18 203144 203144 single base substitution G A missense_variant R295Q 884G>A UCEC-US 18 203144 203144 single base substitution G A missense_variant R319Q 956G>A UCEC-US 18 203144 203144 single base substitution G A missense_variant R330Q 989G>A UCEC-US 18 203147 203147 single base substitution T G exon_variant UCEC-US 18 203147 203147 single base substitution T G missense_variant F285C 854T>G UCEC-US 18 203147 203147 single base substitution T G missense_variant F296C 887T>G UCEC-US 18 203147 203147 single base substitution T G missense_variant F320C 959T>G UCEC-US 18 203147 203147 single base substitution T G missense_variant F331C 992T>G UCEC-US 18 203173 203173 single base substitution A C exon_variant UCEC-US 18 203173 203173 single base substitution A C missense_variant N294H 880A>C UCEC-US 18 203173 203173 single base substitution A C missense_variant N305H 913A>C UCEC-US 18 203173 203173 single base substitution A C missense_variant N329H 985A>C UCEC-US 18 203173 203173 single base substitution A C missense_variant N340H 1018A>C UCEC-US 18 204645 204645 single base substitution A C exon_variant UCEC-US 18 204645 204645 single base substitution A C missense_variant K327Q 979A>C UCEC-US 18 204645 204645 single base substitution A C missense_variant K338Q 1012A>C UCEC-US 18 204645 204645 single base substitution A C missense_variant K362Q 1084A>C UCEC-US 18 204645 204645 single base substitution A C missense_variant K373Q 1117A>C UCEC-US 18 214651 214651 single base substitution G C downstream_gene_variant UCEC-US 18 214668 214668 single base substitution G A downstream_gene_variant UCEC-US 18 214788 214788 single base substitution A G downstream_gene_variant UCEC-US 18 214894 214894 single base substitution A G downstream_gene_variant UCEC-US 18 216486 216486 single base substitution C T downstream_gene_variant UCEC-US 18 216591 216591 single base substitution T C downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 587278 COSM1231964 c.371G>A p.R124H Substitution - Missense 18:180306-180306 + TCGA-HT-7480-01 COSM3970490 c.877C>T p.R293* Substitution - Nonsense 18:202880-202880 + TCGA-B5-A11E-01 COSM986880 c.201G>T p.M67I Substitution - Missense 18:178938-178938 + LUAD-B01145 COSM333294 c.207A>G p.L69L Substitution - coding silent 18:178944-178944 + 06-P036 COSM4580333 c.689C>T p.S230F Substitution - Missense 18:198060-198060 + C135 COSM1388001 c.781_783delGAA p.E264delE Deletion - In frame 18:199221-199223 + T3658 COSM4739648 c.979C>T p.Q327* Substitution - Nonsense 18:203134-203134 + TCGA-BQ-7044-01 COSM3989482 c.45T>G p.F15L Substitution - Missense 18:163336-163336 + Pat_16_B COSM5853959 c.409G>T p.A137S Substitution - Missense 18:192846-192846 + Gp5D COSM2884700 c.75T>A p.P25P Substitution - coding silent 18:163366-163366 + TCGA-AN-A046-01 COSM3821212 c.241G>T p.E81* Substitution - Nonsense 18:178978-178978 + TCGA-85-6561-01 COSM708308 c.1236C>A p.S412S Substitution - coding silent 18:210396-210396 + ESCC_131 COSM5642214 c.1477G>A p.E493K Substitution - Missense 18:211276-211276 + SNU-175 COSM1388011 c.990_991insT p.Y333fs*2 Insertion - Frameshift 18:203145-203146 + YURED COSM1710924 c.872A>T p.K291I Substitution - Missense 18:199312-199312 + CLL109 COSM1290792 c.424G>A p.A142T Substitution - Missense 18:192861-192861 + S00501 COSM316400 c.797C>A p.T266N Substitution - Missense 18:199237-199237 + T155 COSM1176691 c.920G>T p.R307I Substitution - Missense 18:202923-202923 + TCGA-C8-A12Y-01 COSM437975 c.1218T>C p.F406F Substitution - coding silent 18:210024-210024 + TCGA-29-1775-01 COSM1324656 c.1470G>C p.E490D Substitution - Missense 18:211269-211269 + C086 COSM5541466 c.837C>T p.I279I Substitution - coding silent 18:199277-199277 + 517 COSM5612067 c.1171A>T p.K391* Substitution - Nonsense 18:209977-209977 + YUKLAB COSM1710926 c.1342A>T p.I448F Substitution - Missense 18:211141-211141 + T469 COSM4745604 c.1021_1022GC>TG p.A341C Substitution - Missense 18:203176-203177 + WSU-HN12 COSM4601162 c.817C>A p.L273I Substitution - Missense 18:199257-199257 + ME009T COSM223914 c.122C>T p.P41L Substitution - Missense 18:163413-163413 + I2L-P24Ta-Tumor-Organoid COSM5364603 c.814C>T p.Q272* Substitution - Nonsense 18:199254-199254 + TCGA-AA-3510-01 COSM1387917 c.40A>C p.K14Q Substitution - Missense 18:163331-163331 + TCGA-D1-A17Q-01 COSM987000 c.1018A>C p.N340H Substitution - Missense 18:203173-203173 + S01578 COSM5670384 c.79A>G p.M27V Substitution - Missense 18:163370-163370 + TCGA-CK-5916-01 COSM1388011 c.990_991insT p.Y333fs*2 Insertion - Frameshift 18:203145-203146 + TCGA-B5-A0JY-01 COSM986998 c.989G>A p.R330Q Substitution - Missense 18:203144-203144 + HCC066T COSM5821106 c.1123A>T p.K375* Substitution - Nonsense 18:204651-204651 + 24T COSM3712617 c.631T>C p.L211L Substitution - coding silent 18:197652-197652 + TCGA-F1-6177-01 COSM4071510 c.1373T>C p.V458A Substitution - Missense 18:211172-211172 + HCC2998 COSM2885076 c.738C>A p.F246L Substitution - Missense 18:198109-198109 + TCGA-BL-A3JM-01 COSM1303596 c.265G>A p.V89I Substitution - Missense 18:179002-179002 + ESCC_BICR_015T COSM5433278 c.748G>C p.E250Q Substitution - Missense 18:198119-198119 + PT46 COSM5929838 c.761+5C>T p.? Unknown 18:198137-198137 + 587220 COSM1231963 c.905C>A p.S302Y Substitution - Missense 18:202908-202908 + OSCC-GB_00530111 COSM4883515 c.659A>T p.D220V Substitution - Missense 18:197680-197680 + TCGA-G3-A25S-01 COSM4926782 c.1245T>C p.C415C Substitution - coding silent 18:210405-210405 + TCGA-A5-A0G9-01 COSM987043 c.1203T>C p.Y401Y Substitution - coding silent 18:210009-210009 + AOCS-092-3-3 COSM4140022 c.1238A>G p.N413S Substitution - Missense 18:210398-210398 + HX13T COSM1611105 c.1035+10G>A p.? Unknown 18:203200-203200 + TCGA-D1-A17Q-01 COSM987001 c.1117A>C p.K373Q Substitution - Missense 18:204645-204645 + TCGA-AU-6004-01 COSM1387988 c.561C>T p.A187A Substitution - coding silent 18:196734-196734 + TCGA-CM-4743-01 COSM1388001 c.781_783delGAA p.E264delE Deletion - In frame 18:199221-199223 + AOCS-092-1-6 COSM4140022 c.1238A>G p.N413S Substitution - Missense 18:210398-210398 + S00501 COSM316400 c.797C>A p.T266N Substitution - Missense 18:199237-199237 + ME009T COSM223915 c.797C>T p.T266I Substitution - Missense 18:199237-199237 + SC_9047 COSM5558767 c.527T>G p.L176R Substitution - Missense 18:196700-196700 + LOVO COSM2885238 c.912G>A p.T304T Substitution - coding silent 18:202915-202915 + 256528 COSM3725098 c.820C>T p.Q274* Substitution - Nonsense 18:199260-199260 + TCGA-BR-4363-01 COSM4071509 c.1361A>C p.K454T Substitution - Missense 18:211160-211160 + OSCC-GB_00240111 COSM3712617 c.631T>C p.L211L Substitution - coding silent 18:197652-197652 + CSCC-20-T COSM4557493 c.730G>A p.D244N Substitution - Missense 18:198101-198101 + TCGA-HU-A4GU-01 COSM4071461 c.560C>T p.A187V Substitution - Missense 18:196733-196733 + TCGA-BR-4368-01 COSM4071516 c.1448G>A p.R483H Substitution - Missense 18:211247-211247 + H23 COSM1196340 c.604G>A p.E202K Substitution - Missense 18:197625-197625 + TCGA-A5-A0GP-01 COSM986999 c.992T>G p.F331C Substitution - Missense 18:203147-203147 + I2L-P24Ta-Tumor-Biopsy COSM5364603 c.814C>T p.Q272* Substitution - Nonsense 18:199254-199254 + NCI-H23 COSM1196340 c.604G>A p.E202K Substitution - Missense 18:197625-197625 + 360_T COSM3959071 c.1036-2A>G p.? Unknown 18:204562-204562 + sysucc-1317T COSM5449097 c.758C>T p.T253I Substitution - Missense 18:198129-198129 + DU-145 COSM1680186 c.1112G>T p.R371L Substitution - Missense 18:204640-204640 + YUKLAB COSM1710925 c.972G>C p.L324F Substitution - Missense 18:203127-203127 + 88018 COSM95431 c.641A>T p.K214I Substitution - Missense 18:197662-197662 + 2497781 COSM5751026 c.706C>A p.P236T Substitution - Missense 18:198077-198077 + Pat_40_B COSM5853950 c.30_31GG>AA p.W10_G11>* Complex - deletion inframe 18:163321-163322 + 9086_T COSM5041214 c.1360A>G p.K454E Substitution - Missense 18:211159-211159 + LP6005334-DNA_H01 COSM5034719 c.717G>T p.K239N Substitution - Missense 18:198088-198088 + BD6T COSM5499321 c.105G>A p.A35A Substitution - coding silent 18:163396-163396 + TCGA-BS-A0UV-01 COSM986879 c.171T>A p.D57E Substitution - Missense 18:166795-166795 + 234 COSM1388011 c.990_991insT p.Y333fs*2 Insertion - Frameshift 18:203145-203146 + TCGA-13-0904-01 COSM73221 c.723T>G p.S241R Substitution - Missense 18:198094-198094 + TCGA-EB-A4P0-01 COSM3524373 c.76C>T p.P26S Substitution - Missense 18:163367-163367 + TCGA-CM-6674-01 COSM1387992 c.742G>A p.G248S Substitution - Missense 18:198113-198113 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.464402;Hs.464404;Hs.464414;Hs.464416 18p11.32 607274

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.I205L c.613A>C 18 197634 LUAD A C Missense p.K454T c.1361A>C 18 211160 STAD C A Missense p.Q192K c.574C>A 18 196747 LUAD C A Missense p.T266N c.797C>A 18 199237 SCLC C A Synonymous p.S412S c.1236C>A 18 210396 LUSC C T Missense p.P41L c.122C>T 18 163413 CM C T Missense p.T266I c.797C>T 18 199237 CM C T Nonsense p.R293* c.877C>T 18 202880 LGG C T Synonymous p.I312I c.936C>T 18 202939 HNSC G A Missense p.A142T c.424G>A 18 192861 CLL G A Missense p.R483H c.1448G>A 18 211247 STAD G A Missense p.V89I c.265G>A 18 179002 BLCA G C Missense p.E102Q c.304G>C 18 180239 CM T C Missense p.V458A c.1373T>C 18 211172 STAD T C Synonymous p.F406F c.1218T>C 18 210024 BRCA T G Missense p.F331C c.992T>G 18 203147 UCEC T G Missense p.S241R c.723T>G 18 198094 OV T - IntronicDeletion . c.595-10delT 18 197600 ESCA - T IntronicInsertion . c.405-172dupT 18 192664 ESCA - TTG 3-UTRInsertion . c.1482+3240_1482+3241insTGT 18 214520 PRAD