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 3 49867149 49867149 + Silent SNP C C T TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr3:49867149C>T c.1137G>A c.(1135-1137)gaG>gaA p.E379E BLCA 3 49867474 49867474 + Silent SNP C C T TCGA-4Z-AA7O-01A-31D-A391-08 TCGA-4Z-AA7O-10A-01D-A394-08 g.chr3:49867474C>T c.1065G>A c.(1063-1065)aaG>aaA p.K355K BLCA 3 49879968 49879968 + Missense_Mutation SNP A A G TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr3:49879968A>G c.421T>C c.(421-423)Tac>Cac p.Y141H BLCA 3 49893848 49893848 + Silent SNP G G A TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr3:49893848G>A c.39C>T c.(37-39)ttC>ttT p.F13F BRCA 3 49878478 49878478 + Silent SNP C C A TCGA-BH-A0H7-01A-13W-A071-09 TCGA-BH-A0H7-11A-13W-A100-09 g.chr3:49878478C>A c.645G>T c.(643-645)cgG>cgT p.R215R CESC 3 49867119 49867119 + Silent SNP G G A TCGA-EK-A3GN-01A-11D-A20U-09 TCGA-EK-A3GN-10A-01D-A20U-09 g.chr3:49867119G>A c.1167C>T c.(1165-1167)gtC>gtT p.V389V COAD 3 49866639 49866639 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:49866639C>T c.1307G>A c.(1306-1308)cGc>cAc p.R436H COAD 3 49867085 49867085 + Missense_Mutation SNP T T C TCGA-AZ-6608-01A-11D-1835-10 TCGA-AZ-6608-11A-01D-1835-10 g.chr3:49867085T>C c.1201A>G c.(1201-1203)Agg>Ggg p.R401G COAD 3 49867085 49867085 + Missense_Mutation SNP T T C TCGA-D5-6534-01A-21D-1924-10 TCGA-D5-6534-10A-01D-1924-10 g.chr3:49867085T>C c.1201A>G c.(1201-1203)Agg>Ggg p.R401G COAD 3 49867122 49867122 + Frame_Shift_Del DEL A A - TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr3:49867122delA c.1164delT c.(1162-1164)tttfs p.F388fs COAD 3 49869404 49869404 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr3:49869404G>A c.982C>T c.(982-984)Cgg>Tgg p.R328W COAD 3 49869449 49869449 + Missense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:49869449C>A c.937G>T c.(937-939)Gat>Tat p.D313Y COAD 3 49869466 49869466 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr3:49869466C>T c.920G>A c.(919-921)cGg>cAg p.R307Q COAD 3 49877755 49877755 + Missense_Mutation SNP C C A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:49877755C>A c.757G>T c.(757-759)Gcc>Tcc p.A253S COAD 3 49879336 49879336 + Silent SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr3:49879336C>T c.540G>A c.(538-540)gtG>gtA p.V180V COAD 3 49881258 49881258 + Silent SNP G G A TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr3:49881258G>A c.384C>T c.(382-384)gcC>gcT p.A128A COAD 3 49881329 49881329 + Missense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr3:49881329C>T c.313G>A c.(313-315)Gac>Aac p.D105N COAD 3 49885575 49885575 + Splice_Site SNP C C T TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr3:49885575C>T c.e2+1 COADREAD 3 49866639 49866639 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:49866639C>T c.1307G>A c.(1306-1308)cGc>cAc p.R436H COADREAD 3 49867085 49867085 + Missense_Mutation SNP T T C TCGA-AZ-6608-01A-11D-1835-10 TCGA-AZ-6608-11A-01D-1835-10 g.chr3:49867085T>C c.1201A>G c.(1201-1203)Agg>Ggg p.R401G COADREAD 3 49867085 49867085 + Missense_Mutation SNP T T C TCGA-D5-6534-01A-21D-1924-10 TCGA-D5-6534-10A-01D-1924-10 g.chr3:49867085T>C c.1201A>G c.(1201-1203)Agg>Ggg p.R401G COADREAD 3 49867122 49867122 + Frame_Shift_Del DEL A A - TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr3:49867122delA c.1164delT c.(1162-1164)tttfs p.F388fs COADREAD 3 49869404 49869404 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr3:49869404G>A c.982C>T c.(982-984)Cgg>Tgg p.R328W COADREAD 3 49869449 49869449 + Missense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:49869449C>A c.937G>T c.(937-939)Gat>Tat p.D313Y COADREAD 3 49869466 49869466 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr3:49869466C>T c.920G>A c.(919-921)cGg>cAg p.R307Q COADREAD 3 49877755 49877755 + Missense_Mutation SNP C C A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:49877755C>A c.757G>T c.(757-759)Gcc>Tcc p.A253S COADREAD 3 49879336 49879336 + Silent SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr3:49879336C>T c.540G>A c.(538-540)gtG>gtA p.V180V COADREAD 3 49881258 49881258 + Silent SNP G G A TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr3:49881258G>A c.384C>T c.(382-384)gcC>gcT p.A128A COADREAD 3 49881329 49881329 + Missense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr3:49881329C>T c.313G>A c.(313-315)Gac>Aac p.D105N COADREAD 3 49885575 49885575 + Splice_Site SNP C C T TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr3:49885575C>T c.e2+1 ESCA 3 49866540 49866540 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 g.chr3:49866540G>A c.1406C>T c.(1405-1407)tCg>tTg p.S469L ESCA 3 49867177 49867177 + Missense_Mutation SNP C C T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 g.chr3:49867177C>T c.1109G>A c.(1108-1110)gGc>gAc p.G370D ESCA 3 49869368 49869368 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 g.chr3:49869368G>T c.1018C>A c.(1018-1020)Ctt>Att p.L340I ESCA 3 49881278 49881278 + Nonsense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 g.chr3:49881278G>A c.364C>T c.(364-366)Cag>Tag p.Q122* GBM 3 49869443 49869443 + Missense_Mutation SNP C C A TCGA-28-5211-01C-11D-1845-08 TCGA-28-5211-10B-01D-1845-08 g.chr3:49869443C>A c.943G>T c.(943-945)Gat>Tat p.D315Y GBMLGG 3 49867117 49867117 + Missense_Mutation SNP C C T TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 g.chr3:49867117C>T c.1169G>A c.(1168-1170)cGg>cAg p.R390Q GBMLGG 3 49869443 49869443 + Missense_Mutation SNP C C A TCGA-28-5211-01C-11D-1845-08 TCGA-28-5211-10B-01D-1845-08 g.chr3:49869443C>A c.943G>T c.(943-945)Gat>Tat p.D315Y GBMLGG 3 49869458 49869458 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:49869458A>G c.928T>C c.(928-930)Ttc>Ctc p.F310L GBMLGG 3 49869465 49869465 + Silent SNP C C T TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 g.chr3:49869465C>T c.921G>A c.(919-921)cgG>cgA p.R307R GBMLGG 3 49879910 49879910 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:49879910C>A c.479G>T c.(478-480)aGg>aTg p.R160M GBMLGG 3 49881320 49881320 + Missense_Mutation SNP G G A TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 g.chr3:49881320G>A c.322C>T c.(322-324)Cgg>Tgg p.R108W HNSC 3 49867055 49867055 + Missense_Mutation SNP C C G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 g.chr3:49867055C>G c.1231G>C c.(1231-1233)Gat>Cat p.D411H HNSC 3 49885617 49885617 + Missense_Mutation SNP C C G TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr3:49885617C>G c.115G>C c.(115-117)Gag>Cag p.E39Q LGG 3 49867117 49867117 + Missense_Mutation SNP C C T TCGA-DH-A66B-01A-11D-A29Q-08 TCGA-DH-A66B-10A-01D-A29Q-08 g.chr3:49867117C>T c.1169G>A c.(1168-1170)cGg>cAg p.R390Q LGG 3 49869458 49869458 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:49869458A>G c.928T>C c.(928-930)Ttc>Ctc p.F310L LGG 3 49869465 49869465 + Silent SNP C C T TCGA-S9-A6WI-01A-21D-A33T-08 TCGA-S9-A6WI-10A-01D-A33W-08 g.chr3:49869465C>T c.921G>A c.(919-921)cgG>cgA p.R307R LGG 3 49879910 49879910 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:49879910C>A c.479G>T c.(478-480)aGg>aTg p.R160M LGG 3 49881320 49881320 + Missense_Mutation SNP G G A TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 g.chr3:49881320G>A c.322C>T c.(322-324)Cgg>Tgg p.R108W LIHC 3 49866583 49866584 + Frame_Shift_Del DEL CT CT - TCGA-DD-A73A-01A-12D-A32G-10 TCGA-DD-A73A-10A-01D-A32G-10 g.chr3:49866583_49866584delCT c.1362_1363delAG c.(1360-1365)acagtgfs p.V455fs LIHC 3 49867199 49867199 + Splice_Site SNP C C T TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr3:49867199C>T c.1087G>A c.(1087-1089)Gag>Aag p.E363K LIHC 3 49867199 49867199 + Splice_Site SNP C C T TCGA-EP-A26S-01A-11D-A16V-10 TCGA-EP-A26S-10A-01D-A16V-10 g.chr3:49867199C>T c.1087G>A c.(1087-1089)Gag>Aag p.E363K LUAD 3 49866574 49866574 + Missense_Mutation SNP G G C TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr3:49866574G>C c.1372C>G c.(1372-1374)Ctc>Gtc p.L458V LUAD 3 49866641 49866641 + Silent SNP G G A TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr3:49866641G>A c.1305C>T c.(1303-1305)atC>atT p.I435I LUAD 3 49866942 49866942 + Splice_Site SNP C C A TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 g.chr3:49866942C>A c.e14-1 LUAD 3 49869403 49869403 + Missense_Mutation SNP C C A TCGA-53-A4EZ-01A-12D-A24P-08 TCGA-53-A4EZ-10A-01D-A24P-08 g.chr3:49869403C>A c.983G>T c.(982-984)cGg>cTg p.R328L LUAD 3 49877210 49877210 + Missense_Mutation SNP T T G TCGA-O1-A52J-01A-11D-A25L-08 TCGA-O1-A52J-10A-01D-A25L-08 g.chr3:49877210T>G c.879A>C c.(877-879)ttA>ttC p.L293F LUAD 3 49877731 49877731 + Missense_Mutation SNP C C T TCGA-91-8499-01A-11D-2393-08 TCGA-91-8499-10A-01D-2393-08 g.chr3:49877731C>T c.781G>A c.(781-783)Gac>Aac p.D261N LUAD 3 49879316 49879316 + Missense_Mutation SNP A A G TCGA-44-3398-01A-01D-1105-08 TCGA-44-3398-11B-01D-1553-08 g.chr3:49879316A>G c.560T>C c.(559-561)aTg>aCg p.M187T LUAD 3 49881252 49881252 + Missense_Mutation SNP C C A TCGA-MP-A4TH-01A-31D-A25L-08 TCGA-MP-A4TH-10A-01D-A25L-08 g.chr3:49881252C>A c.390G>T c.(388-390)atG>atT p.M130I LUAD 3 49881292 49881292 + Missense_Mutation SNP G G A TCGA-93-A4JQ-01A-11D-A24P-08 TCGA-93-A4JQ-10A-01D-A24P-08 g.chr3:49881292G>A c.350C>T c.(349-351)aCt>aTt p.T117I LUSC 3 49881319 49881319 + Missense_Mutation SNP C C T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 g.chr3:49881319C>T c.323G>A c.(322-324)cGg>cAg p.R108Q LUSC 3 49885009 49885009 + Missense_Mutation SNP G G C TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 g.chr3:49885009G>C c.189C>G c.(187-189)ttC>ttG p.F63L OV 3 49885593 49885593 + Missense_Mutation SNP G G C TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 g.chr3:49885593G>C c.139C>G c.(139-141)Cca>Gca p.P47A PAAD 3 49867474 49867474 + Silent SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 g.chr3:49867474C>T c.1065G>A c.(1063-1065)aaG>aaA p.K355K PAAD 3 49885589 49885589 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:49885589T>C c.143A>G c.(142-144)cAg>cGg p.Q48R PRAD 3 49881269 49881269 + Missense_Mutation SNP A A T TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 g.chr3:49881269A>T c.373T>A c.(373-375)Ttg>Atg p.L125M SARC 3 49869411 49869411 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr3:49869411G>A c.975C>T c.(973-975)ccC>ccT p.P325P SKCM 3 49866548 49866548 + Silent SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:49866548G>A c.1398C>T c.(1396-1398)ttC>ttT p.F466F SKCM 3 49866927 49866927 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:49866927G>A c.1251C>T c.(1249-1251)ttC>ttT p.F417F SKCM 3 49867482 49867482 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:49867482G>A c.1057C>T c.(1057-1059)Ccc>Tcc p.P353S SKCM 3 49869412 49869412 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:49869412G>A c.974C>T c.(973-975)cCc>cTc p.P325L SKCM 3 49877783 49877783 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr3:49877783C>T c.729G>A c.(727-729)ttG>ttA p.L243L SKCM 3 49878425 49878425 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr3:49878425C>T c.698G>A c.(697-699)aGa>aAa p.R233K SKCM 3 49878430 49878430 + Silent SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr3:49878430G>A c.693C>T c.(691-693)tcC>tcT p.S231S SKCM 3 49878431 49878431 + Missense_Mutation SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr3:49878431G>A c.692C>T c.(691-693)tCc>tTc p.S231F SKCM 3 49881982 49881982 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 g.chr3:49881982G>A c.272C>T c.(271-273)tCc>tTc p.S91F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 3 49895988 49895988 single base substitution C T upstream_gene_variant BRCA-EU 3 49861251 49861251 single base substitution C T downstream_gene_variant BRCA-EU 3 49861756 49861756 single base substitution C T downstream_gene_variant BRCA-EU 3 49862555 49862555 single base substitution G C downstream_gene_variant BRCA-EU 3 49862724 49862724 single base substitution C T downstream_gene_variant BRCA-EU 3 49863074 49863074 single base substitution T G downstream_gene_variant BRCA-EU 3 49871058 49871058 single base substitution G A intron_variant BRCA-EU 3 49871058 49871058 single base substitution G A upstream_gene_variant BRCA-EU 3 49872222 49872222 single base substitution G T intron_variant BRCA-EU 3 49875204 49875204 single base substitution G A downstream_gene_variant BRCA-EU 3 49875204 49875204 single base substitution G A intron_variant BRCA-EU 3 49876859 49876859 single base substitution C G downstream_gene_variant BRCA-EU 3 49876859 49876859 single base substitution C G intron_variant BRCA-EU 3 49878178 49878178 single base substitution G C downstream_gene_variant BRCA-EU 3 49878178 49878178 single base substitution G C intron_variant BRCA-EU 3 49878178 49878178 single base substitution G C upstream_gene_variant BRCA-EU 3 49884314 49884314 insertion of <=200bp - T intron_variant BRCA-EU 3 49884314 49884314 insertion of <=200bp - T upstream_gene_variant BRCA-EU 3 49884333 49884333 single base substitution G A intron_variant BRCA-EU 3 49884333 49884333 single base substitution G A upstream_gene_variant BRCA-EU 3 49887692 49887692 single base substitution G C intron_variant BRCA-EU 3 49887804 49887804 single base substitution C T intron_variant BRCA-EU 3 49889223 49889223 single base substitution G A intron_variant BRCA-EU 3 49889528 49889528 single base substitution G C intron_variant BRCA-EU 3 49891352 49891352 single base substitution A T intron_variant BRCA-EU 3 49892711 49892711 single base substitution T C intron_variant BRCA-EU 3 49893432 49893432 single base substitution A G intron_variant BRCA-EU 3 49893866 49893866 single base substitution G T exon_variant BRCA-EU 3 49893866 49893866 single base substitution G T stop_gained C7* 21C>A BRCA-EU 3 49893867 49893867 single base substitution C T exon_variant BRCA-EU 3 49893867 49893867 single base substitution C T missense_variant C7Y 20G>A BRCA-EU 3 49894158 49894158 single base substitution C T upstream_gene_variant BRCA-FR 3 49871058 49871058 single base substitution G A intron_variant BRCA-FR 3 49871058 49871058 single base substitution G A upstream_gene_variant BRCA-KR 3 49897260 49897260 single base substitution T C upstream_gene_variant BRCA-US 3 49878478 49878478 single base substitution C A downstream_gene_variant BRCA-US 3 49878478 49878478 single base substitution C A intron_variant BRCA-US 3 49878478 49878478 single base substitution C A synonymous_variant R199R 597G>T BRCA-US 3 49878478 49878478 single base substitution C A synonymous_variant R215R 645G>T BRCA-US 3 49878478 49878478 single base substitution C A upstream_gene_variant BRCA-US 3 49898960 49898960 single base substitution G A upstream_gene_variant BTCA-JP 3 49879254 49879254 single base substitution C T downstream_gene_variant BTCA-JP 3 49879254 49879254 single base substitution C T intron_variant BTCA-JP 3 49879254 49879254 single base substitution C T splice_region_variant BTCA-JP 3 49879254 49879254 single base substitution C T upstream_gene_variant BTCA-JP 3 49884997 49884997 single base substitution G A exon_variant BTCA-JP 3 49884997 49884997 single base substitution G A splice_region_variant BTCA-JP 3 49884997 49884997 single base substitution G A synonymous_variant A67A 201C>T BTCA-JP 3 49884997 49884997 single base substitution G A synonymous_variant A69A 207C>T BTCA-JP 3 49884997 49884997 single base substitution G A upstream_gene_variant BTCA-JP 3 49893780 49893780 single base substitution G A intron_variant BTCA-JP 3 49893994 49893994 single base substitution A T 5_prime_UTR_variant BTCA-JP 3 49893994 49893994 single base substitution A T exon_variant BTCA-JP 3 49893994 49893994 single base substitution A T upstream_gene_variant BTCA-JP 3 49898603 49898603 single base substitution C T upstream_gene_variant CESC-US 3 49866880 49866880 single base substitution G C downstream_gene_variant CESC-US 3 49866880 49866880 single base substitution G C exon_variant CESC-US 3 49866880 49866880 single base substitution G C intron_variant CESC-US 3 49866880 49866880 single base substitution G C missense_variant S278C 833C>G CESC-US 3 49867119 49867119 single base substitution G A 3_prime_UTR_variant CESC-US 3 49867119 49867119 single base substitution G A downstream_gene_variant CESC-US 3 49867119 49867119 single base substitution G A exon_variant CESC-US 3 49867119 49867119 single base substitution G A synonymous_variant V234V 702C>T CESC-US 3 49867119 49867119 single base substitution G A synonymous_variant V389V 1167C>T CLLE-ES 3 49863928 49863928 single base substitution A C downstream_gene_variant CLLE-ES 3 49865341 49865341 single base substitution G A downstream_gene_variant CLLE-ES 3 49868211 49868211 single base substitution C T downstream_gene_variant CLLE-ES 3 49868211 49868211 single base substitution C T intron_variant CLLE-ES 3 49868211 49868211 single base substitution C T upstream_gene_variant CLLE-ES 3 49893969 49893969 single base substitution G C 5_prime_UTR_variant CLLE-ES 3 49893969 49893969 single base substitution G C exon_variant CLLE-ES 3 49893969 49893969 single base substitution G C upstream_gene_variant COAD-US 3 49866584 49866584 single base substitution T G 3_prime_UTR_variant COAD-US 3 49866584 49866584 single base substitution T G downstream_gene_variant COAD-US 3 49866584 49866584 single base substitution T G exon_variant COAD-US 3 49866584 49866584 single base substitution T G synonymous_variant T454T 1362A>C COAD-US 3 49866639 49866639 single base substitution C T 3_prime_UTR_variant COAD-US 3 49866639 49866639 single base substitution C T downstream_gene_variant COAD-US 3 49866639 49866639 single base substitution C T exon_variant COAD-US 3 49866639 49866639 single base substitution C T missense_variant R436H 1307G>A COAD-US 3 49867457 49867457 single base substitution C A 3_prime_UTR_variant COAD-US 3 49867457 49867457 single base substitution C A downstream_gene_variant COAD-US 3 49867457 49867457 single base substitution C A missense_variant R206M 617G>T COAD-US 3 49867457 49867457 single base substitution C A missense_variant R361M 1082G>T COAD-US 3 49867457 49867457 single base substitution C A upstream_gene_variant COAD-US 3 49869449 49869449 single base substitution C A exon_variant COAD-US 3 49869449 49869449 single base substitution C A intron_variant COAD-US 3 49869449 49869449 single base substitution C A missense_variant D158Y 472G>T COAD-US 3 49869449 49869449 single base substitution C A missense_variant D313Y 937G>T COAD-US 3 49869449 49869449 single base substitution C A upstream_gene_variant COAD-US 3 49869466 49869466 single base substitution C T exon_variant COAD-US 3 49869466 49869466 single base substitution C T intron_variant COAD-US 3 49869466 49869466 single base substitution C T missense_variant R152Q 455G>A COAD-US 3 49869466 49869466 single base substitution C T missense_variant R307Q 920G>A COAD-US 3 49869466 49869466 single base substitution C T upstream_gene_variant COAD-US 3 49877755 49877755 single base substitution C A 3_prime_UTR_variant COAD-US 3 49877755 49877755 single base substitution C A downstream_gene_variant COAD-US 3 49877755 49877755 single base substitution C A exon_variant COAD-US 3 49877755 49877755 single base substitution C A missense_variant A237S 709G>T COAD-US 3 49877755 49877755 single base substitution C A missense_variant A253S 757G>T COAD-US 3 49877755 49877755 single base substitution C A missense_variant A98S 292G>T COAD-US 3 49879336 49879336 single base substitution C T downstream_gene_variant COAD-US 3 49879336 49879336 single base substitution C T intron_variant COAD-US 3 49879336 49879336 single base substitution C T synonymous_variant V164V 492G>A COAD-US 3 49879336 49879336 single base substitution C T synonymous_variant V180V 540G>A COAD-US 3 49879336 49879336 single base substitution C T upstream_gene_variant COAD-US 3 49881258 49881258 single base substitution G A downstream_gene_variant COAD-US 3 49881258 49881258 single base substitution G A exon_variant COAD-US 3 49881258 49881258 single base substitution G A intron_variant COAD-US 3 49881258 49881258 single base substitution G A synonymous_variant A112A 336C>T COAD-US 3 49881258 49881258 single base substitution G A synonymous_variant A128A 384C>T COAD-US 3 49881258 49881258 single base substitution G A synonymous_variant A130A 390C>T COAD-US 3 49881258 49881258 single base substitution G A upstream_gene_variant COAD-US 3 49881329 49881329 single base substitution C T exon_variant COAD-US 3 49881329 49881329 single base substitution C T intron_variant COAD-US 3 49881329 49881329 single base substitution C T missense_variant D105N 313G>A COAD-US 3 49881329 49881329 single base substitution C T missense_variant D107N 319G>A COAD-US 3 49881329 49881329 single base substitution C T missense_variant D89N 265G>A COAD-US 3 49881329 49881329 single base substitution C T upstream_gene_variant COAD-US 3 49896971 49896971 single base substitution G C upstream_gene_variant COAD-US 3 49898376 49898376 single base substitution A C upstream_gene_variant COAD-US 3 49898428 49898428 single base substitution G A upstream_gene_variant COCA-CN 3 49867136 49867136 single base substitution C T 3_prime_UTR_variant COCA-CN 3 49867136 49867136 single base substitution C T downstream_gene_variant COCA-CN 3 49867136 49867136 single base substitution C T exon_variant COCA-CN 3 49867136 49867136 single base substitution C T missense_variant A229T 685G>A COCA-CN 3 49867136 49867136 single base substitution C T missense_variant A384T 1150G>A COCA-CN 3 49884884 49884884 single base substitution G T intron_variant COCA-CN 3 49884884 49884884 single base substitution G T upstream_gene_variant COCA-CN 3 49885031 49885031 single base substitution C A exon_variant COCA-CN 3 49885031 49885031 single base substitution C A intron_variant COCA-CN 3 49885031 49885031 single base substitution C A missense_variant R56I 167G>T COCA-CN 3 49885031 49885031 single base substitution C A missense_variant R58I 173G>T COCA-CN 3 49885031 49885031 single base substitution C A upstream_gene_variant COCA-CN 3 49889595 49889595 single base substitution T A intron_variant COCA-CN 3 49896826 49896826 single base substitution G A upstream_gene_variant COCA-CN 3 49896958 49896958 single base substitution T C upstream_gene_variant COCA-CN 3 49898156 49898156 single base substitution C T upstream_gene_variant COCA-CN 3 49898979 49898979 single base substitution G T upstream_gene_variant ESAD-UK 3 49861265 49861265 single base substitution G A downstream_gene_variant ESAD-UK 3 49861746 49861746 single base substitution C A downstream_gene_variant ESAD-UK 3 49867372 49867372 single base substitution C A downstream_gene_variant ESAD-UK 3 49867372 49867372 single base substitution C A intron_variant ESAD-UK 3 49867372 49867372 single base substitution C A upstream_gene_variant ESAD-UK 3 49874451 49874451 single base substitution C T downstream_gene_variant ESAD-UK 3 49874451 49874451 single base substitution C T intron_variant ESAD-UK 3 49875108 49875108 single base substitution A G downstream_gene_variant ESAD-UK 3 49875108 49875108 single base substitution A G intron_variant ESAD-UK 3 49876549 49876549 single base substitution G T downstream_gene_variant ESAD-UK 3 49876549 49876549 single base substitution G T intron_variant ESAD-UK 3 49876666 49876666 single base substitution G C downstream_gene_variant ESAD-UK 3 49876666 49876666 single base substitution G C intron_variant ESAD-UK 3 49876925 49876925 single base substitution G A downstream_gene_variant ESAD-UK 3 49876925 49876925 single base substitution G A intron_variant ESAD-UK 3 49877007 49877007 single base substitution C T downstream_gene_variant ESAD-UK 3 49877007 49877007 single base substitution C T intron_variant ESAD-UK 3 49878233 49878233 single base substitution T A downstream_gene_variant ESAD-UK 3 49878233 49878233 single base substitution T A intron_variant ESAD-UK 3 49878233 49878233 single base substitution T A upstream_gene_variant ESAD-UK 3 49878437 49878437 single base substitution A C downstream_gene_variant ESAD-UK 3 49878437 49878437 single base substitution A C intron_variant ESAD-UK 3 49878437 49878437 single base substitution A C missense_variant L213W 638T>G ESAD-UK 3 49878437 49878437 single base substitution A C missense_variant L229W 686T>G ESAD-UK 3 49878437 49878437 single base substitution A C upstream_gene_variant ESAD-UK 3 49880109 49880109 single base substitution C T downstream_gene_variant ESAD-UK 3 49880109 49880109 single base substitution C T intron_variant ESAD-UK 3 49880109 49880109 single base substitution C T upstream_gene_variant ESAD-UK 3 49882670 49882670 single base substitution T G intron_variant ESAD-UK 3 49882670 49882670 single base substitution T G upstream_gene_variant ESAD-UK 3 49884819 49884819 insertion of <=200bp - AAAAG intron_variant ESAD-UK 3 49884819 49884819 insertion of <=200bp - AAAAG upstream_gene_variant ESAD-UK 3 49885222 49885222 single base substitution T A intron_variant ESAD-UK 3 49885222 49885222 single base substitution T A upstream_gene_variant ESAD-UK 3 49887789 49887789 single base substitution G A intron_variant ESAD-UK 3 49890347 49890347 single base substitution G A intron_variant ESAD-UK 3 49891253 49891253 single base substitution C G intron_variant ESAD-UK 3 49893970 49893970 single base substitution C G 5_prime_UTR_variant ESAD-UK 3 49893970 49893970 single base substitution C G exon_variant ESAD-UK 3 49893970 49893970 single base substitution C G upstream_gene_variant ESAD-UK 3 49894045 49894045 single base substitution A G upstream_gene_variant ESAD-UK 3 49894492 49894492 single base substitution C T upstream_gene_variant ESAD-UK 3 49897771 49897771 single base substitution C T upstream_gene_variant ESAD-UK 3 49898349 49898349 single base substitution A G upstream_gene_variant ESCA-CN 3 49893703 49893703 single base substitution G C intron_variant ESCA-CN 3 49897163 49897163 single base substitution G A upstream_gene_variant GBM-US 3 49869443 49869443 single base substitution C A exon_variant GBM-US 3 49869443 49869443 single base substitution C A intron_variant GBM-US 3 49869443 49869443 single base substitution C A missense_variant D160Y 478G>T GBM-US 3 49869443 49869443 single base substitution C A missense_variant D315Y 943G>T GBM-US 3 49869443 49869443 single base substitution C A upstream_gene_variant GBM-US 3 49896857 49896857 single base substitution G T upstream_gene_variant GBM-US 3 49898275 49898275 single base substitution T C upstream_gene_variant LGG-US 3 49867117 49867117 single base substitution C T 3_prime_UTR_variant LGG-US 3 49867117 49867117 single base substitution C T downstream_gene_variant LGG-US 3 49867117 49867117 single base substitution C T exon_variant LGG-US 3 49867117 49867117 single base substitution C T missense_variant R235Q 704G>A LGG-US 3 49867117 49867117 single base substitution C T missense_variant R390Q 1169G>A LICA-FR 3 49862834 49862834 single base substitution T G downstream_gene_variant LICA-FR 3 49879373 49879373 single base substitution C T downstream_gene_variant LICA-FR 3 49879373 49879373 single base substitution C T intron_variant LICA-FR 3 49879373 49879373 single base substitution C T splice_acceptor_variant LICA-FR 3 49879373 49879373 single base substitution C T upstream_gene_variant LICA-FR 3 49887263 49887263 single base substitution C T intron_variant LIHC-US 3 49866583 49866584 deletion of <=200bp CT - 3_prime_UTR_variant LIHC-US 3 49866583 49866584 deletion of <=200bp CT - downstream_gene_variant LIHC-US 3 49866583 49866584 deletion of <=200bp CT - exon_variant LIHC-US 3 49866583 49866584 deletion of <=200bp CT - frameshift_variant TV454 LIHC-US 3 49867199 49867199 single base substitution C T downstream_gene_variant LIHC-US 3 49867199 49867199 single base substitution C T exon_variant LIHC-US 3 49867199 49867199 single base substitution C T missense_variant E208K 622G>A LIHC-US 3 49867199 49867199 single base substitution C T missense_variant E363K 1087G>A LIHC-US 3 49867199 49867199 single base substitution C T splice_region_variant LIHC-US 3 49869470 49869470 single base substitution G A exon_variant LIHC-US 3 49869470 49869470 single base substitution G A intron_variant LIHC-US 3 49869470 49869470 single base substitution G A missense_variant R151C 451C>T LIHC-US 3 49869470 49869470 single base substitution G A missense_variant R306C 916C>T LIHC-US 3 49869470 49869470 single base substitution G A upstream_gene_variant LINC-JP 3 49876611 49876611 single base substitution A G downstream_gene_variant LINC-JP 3 49876611 49876611 single base substitution A G intron_variant LINC-JP 3 49888918 49888918 single base substitution C A intron_variant LINC-JP 3 49894008 49894008 single base substitution G A upstream_gene_variant LINC-JP 3 49894166 49894166 single base substitution A G upstream_gene_variant LINC-JP 3 49898547 49898547 single base substitution G A upstream_gene_variant LIRI-JP 3 49863457 49863457 single base substitution C T downstream_gene_variant LIRI-JP 3 49864263 49864263 single base substitution T A downstream_gene_variant LIRI-JP 3 49870205 49870205 single base substitution C T intron_variant LIRI-JP 3 49870205 49870205 single base substitution C T upstream_gene_variant LIRI-JP 3 49870862 49870862 single base substitution C T intron_variant LIRI-JP 3 49870862 49870862 single base substitution C T upstream_gene_variant LIRI-JP 3 49870991 49870991 single base substitution C T intron_variant LIRI-JP 3 49870991 49870991 single base substitution C T upstream_gene_variant LIRI-JP 3 49872484 49872484 single base substitution T C downstream_gene_variant LIRI-JP 3 49872484 49872484 single base substitution T C intron_variant LIRI-JP 3 49876188 49876188 single base substitution A G downstream_gene_variant LIRI-JP 3 49876188 49876188 single base substitution A G intron_variant LIRI-JP 3 49878228 49878228 single base substitution A C downstream_gene_variant LIRI-JP 3 49878228 49878228 single base substitution A C intron_variant LIRI-JP 3 49878228 49878228 single base substitution A C upstream_gene_variant LIRI-JP 3 49883438 49883438 single base substitution C A intron_variant LIRI-JP 3 49883438 49883438 single base substitution C A upstream_gene_variant LIRI-JP 3 49889786 49889786 single base substitution C T intron_variant LIRI-JP 3 49890503 49890503 single base substitution T A intron_variant LIRI-JP 3 49891712 49891712 single base substitution T C intron_variant LIRI-JP 3 49892518 49892518 single base substitution C G intron_variant LIRI-JP 3 49892689 49892689 single base substitution C T intron_variant LIRI-JP 3 49897407 49897407 single base substitution C A upstream_gene_variant LUSC-KR 3 49862700 49862700 single base substitution G T downstream_gene_variant LUSC-KR 3 49870162 49870162 single base substitution A G intron_variant LUSC-KR 3 49870162 49870162 single base substitution A G upstream_gene_variant LUSC-KR 3 49875624 49875624 single base substitution G C downstream_gene_variant LUSC-KR 3 49875624 49875624 single base substitution G C intron_variant LUSC-KR 3 49876443 49876443 single base substitution G A downstream_gene_variant LUSC-KR 3 49876443 49876443 single base substitution G A intron_variant LUSC-KR 3 49877449 49877449 single base substitution G A downstream_gene_variant LUSC-KR 3 49877449 49877449 single base substitution G A intron_variant LUSC-KR 3 49888706 49888706 single base substitution C A intron_variant LUSC-KR 3 49889583 49889583 single base substitution C T intron_variant LUSC-KR 3 49897153 49897153 single base substitution A T upstream_gene_variant LUSC-US 3 49881319 49881319 single base substitution C T exon_variant LUSC-US 3 49881319 49881319 single base substitution C T intron_variant LUSC-US 3 49881319 49881319 single base substitution C T missense_variant R108Q 323G>A LUSC-US 3 49881319 49881319 single base substitution C T missense_variant R110Q 329G>A LUSC-US 3 49881319 49881319 single base substitution C T missense_variant R92Q 275G>A LUSC-US 3 49881319 49881319 single base substitution C T upstream_gene_variant LUSC-US 3 49885009 49885009 single base substitution G C exon_variant LUSC-US 3 49885009 49885009 single base substitution G C intron_variant LUSC-US 3 49885009 49885009 single base substitution G C missense_variant F63L 189C>G LUSC-US 3 49885009 49885009 single base substitution G C missense_variant F65L 195C>G LUSC-US 3 49885009 49885009 single base substitution G C upstream_gene_variant MALY-DE 3 49861514 49861514 insertion of <=200bp - A downstream_gene_variant MALY-DE 3 49861534 49861534 single base substitution T C downstream_gene_variant MALY-DE 3 49861567 49861567 single base substitution C T downstream_gene_variant MALY-DE 3 49864764 49864764 single base substitution C T downstream_gene_variant MALY-DE 3 49884614 49884617 deletion of <=200bp AAAT - intron_variant MALY-DE 3 49884614 49884617 deletion of <=200bp AAAT - upstream_gene_variant MALY-DE 3 49886859 49886883 deletion of <=200bp CCATCCTGACTAACATGGTGAAACT - intron_variant MALY-DE 3 49886859 49886883 deletion of <=200bp CCATCCTGACTAACATGGTGAAACT - upstream_gene_variant MALY-DE 3 49894017 49894017 single base substitution G T upstream_gene_variant MALY-DE 3 49895333 49895333 single base substitution A G upstream_gene_variant MELA-AU 3 49861779 49861779 single base substitution C T downstream_gene_variant MELA-AU 3 49862794 49862794 single base substitution C T downstream_gene_variant MELA-AU 3 49863628 49863628 single base substitution T A downstream_gene_variant MELA-AU 3 49865006 49865006 single base substitution G A downstream_gene_variant MELA-AU 3 49865269 49865269 single base substitution G A downstream_gene_variant MELA-AU 3 49865393 49865393 single base substitution G A downstream_gene_variant MELA-AU 3 49865600 49865600 single base substitution G A downstream_gene_variant MELA-AU 3 49865606 49865606 single base substitution G A downstream_gene_variant MELA-AU 3 49866190 49866190 single base substitution C T 3_prime_UTR_variant MELA-AU 3 49866190 49866190 single base substitution C T downstream_gene_variant MELA-AU 3 49866190 49866190 single base substitution C T exon_variant MELA-AU 3 49866676 49866676 single base substitution G A downstream_gene_variant MELA-AU 3 49866676 49866676 single base substitution G A exon_variant MELA-AU 3 49866676 49866676 single base substitution G A intron_variant MELA-AU 3 49867896 49867896 single base substitution G A downstream_gene_variant MELA-AU 3 49867896 49867896 single base substitution G A intron_variant MELA-AU 3 49867896 49867896 single base substitution G A upstream_gene_variant MELA-AU 3 49867927 49867927 single base substitution G A downstream_gene_variant MELA-AU 3 49867927 49867927 single base substitution G A intron_variant MELA-AU 3 49867927 49867927 single base substitution G A upstream_gene_variant MELA-AU 3 49868597 49868597 single base substitution G A downstream_gene_variant MELA-AU 3 49868597 49868597 single base substitution G A intron_variant MELA-AU 3 49868597 49868597 single base substitution G A upstream_gene_variant MELA-AU 3 49869389 49869389 single base substitution G A exon_variant MELA-AU 3 49869389 49869389 single base substitution G A intron_variant MELA-AU 3 49869389 49869389 single base substitution G A stop_gained Q178* 532C>T MELA-AU 3 49869389 49869389 single base substitution G A stop_gained Q333* 997C>T MELA-AU 3 49869389 49869389 single base substitution G A upstream_gene_variant MELA-AU 3 49869456 49869456 single base substitution G A exon_variant MELA-AU 3 49869456 49869456 single base substitution G A intron_variant MELA-AU 3 49869456 49869456 single base substitution G A synonymous_variant F155F 465C>T MELA-AU 3 49869456 49869456 single base substitution G A synonymous_variant F310F 930C>T MELA-AU 3 49869456 49869456 single base substitution G A upstream_gene_variant MELA-AU 3 49869591 49869591 single base substitution G A intron_variant MELA-AU 3 49869591 49869591 single base substitution G A upstream_gene_variant MELA-AU 3 49871209 49871209 single base substitution G A intron_variant MELA-AU 3 49871209 49871209 single base substitution G A upstream_gene_variant MELA-AU 3 49871320 49871321 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 49871320 49871321 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 49871560 49871560 single base substitution C T intron_variant MELA-AU 3 49871560 49871560 single base substitution C T upstream_gene_variant MELA-AU 3 49871629 49871629 single base substitution G A intron_variant MELA-AU 3 49871629 49871629 single base substitution G A upstream_gene_variant MELA-AU 3 49871995 49871995 single base substitution G A intron_variant MELA-AU 3 49871995 49871995 single base substitution G A upstream_gene_variant MELA-AU 3 49872216 49872216 single base substitution G A intron_variant MELA-AU 3 49873146 49873146 single base substitution G A downstream_gene_variant MELA-AU 3 49873146 49873146 single base substitution G A intron_variant MELA-AU 3 49873163 49873163 single base substitution G A downstream_gene_variant MELA-AU 3 49873163 49873163 single base substitution G A intron_variant MELA-AU 3 49874222 49874222 single base substitution G A downstream_gene_variant MELA-AU 3 49874222 49874222 single base substitution G A intron_variant MELA-AU 3 49874541 49874541 single base substitution G A downstream_gene_variant MELA-AU 3 49874541 49874541 single base substitution G A intron_variant MELA-AU 3 49874665 49874665 single base substitution C T downstream_gene_variant MELA-AU 3 49874665 49874665 single base substitution C T intron_variant MELA-AU 3 49874700 49874700 single base substitution T C downstream_gene_variant MELA-AU 3 49874700 49874700 single base substitution T C intron_variant MELA-AU 3 49874847 49874847 single base substitution G A downstream_gene_variant MELA-AU 3 49874847 49874847 single base substitution G A intron_variant MELA-AU 3 49875204 49875205 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 49875204 49875205 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 49875235 49875235 single base substitution G A downstream_gene_variant MELA-AU 3 49875235 49875235 single base substitution G A intron_variant MELA-AU 3 49875285 49875285 single base substitution G A downstream_gene_variant MELA-AU 3 49875285 49875285 single base substitution G A intron_variant MELA-AU 3 49876143 49876143 single base substitution A G downstream_gene_variant MELA-AU 3 49876143 49876143 single base substitution A G intron_variant MELA-AU 3 49876313 49876313 single base substitution C T downstream_gene_variant MELA-AU 3 49876313 49876313 single base substitution C T intron_variant MELA-AU 3 49876545 49876545 single base substitution C T downstream_gene_variant MELA-AU 3 49876545 49876545 single base substitution C T intron_variant MELA-AU 3 49876796 49876796 single base substitution G A downstream_gene_variant MELA-AU 3 49876796 49876796 single base substitution G A intron_variant MELA-AU 3 49876818 49876818 single base substitution G A downstream_gene_variant MELA-AU 3 49876818 49876818 single base substitution G A intron_variant MELA-AU 3 49877602 49877602 single base substitution G A downstream_gene_variant MELA-AU 3 49877602 49877602 single base substitution G A intron_variant MELA-AU 3 49878430 49878431 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 49878430 49878431 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 49878430 49878431 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant S215F 644CC>TT MELA-AU 3 49878430 49878431 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant S231F 692CC>TT MELA-AU 3 49878430 49878431 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 49878700 49878701 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 49878700 49878701 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 49878700 49878701 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 49878867 49878867 single base substitution G A downstream_gene_variant MELA-AU 3 49878867 49878867 single base substitution G A intron_variant MELA-AU 3 49878867 49878867 single base substitution G A upstream_gene_variant MELA-AU 3 49878949 49878949 single base substitution G A downstream_gene_variant MELA-AU 3 49878949 49878949 single base substitution G A intron_variant MELA-AU 3 49878949 49878949 single base substitution G A upstream_gene_variant MELA-AU 3 49879412 49879412 single base substitution G A downstream_gene_variant MELA-AU 3 49879412 49879412 single base substitution G A intron_variant MELA-AU 3 49879412 49879412 single base substitution G A upstream_gene_variant MELA-AU 3 49879856 49879856 single base substitution G A downstream_gene_variant MELA-AU 3 49879856 49879856 single base substitution G A intron_variant MELA-AU 3 49879856 49879856 single base substitution G A upstream_gene_variant MELA-AU 3 49880666 49880666 single base substitution G A downstream_gene_variant MELA-AU 3 49880666 49880666 single base substitution G A exon_variant MELA-AU 3 49880666 49880666 single base substitution G A intron_variant MELA-AU 3 49880666 49880666 single base substitution G A upstream_gene_variant MELA-AU 3 49880749 49880749 single base substitution G A downstream_gene_variant MELA-AU 3 49880749 49880749 single base substitution G A exon_variant MELA-AU 3 49880749 49880749 single base substitution G A intron_variant MELA-AU 3 49880749 49880749 single base substitution G A upstream_gene_variant MELA-AU 3 49880919 49880919 single base substitution A G downstream_gene_variant MELA-AU 3 49880919 49880919 single base substitution A G exon_variant MELA-AU 3 49880919 49880919 single base substitution A G intron_variant MELA-AU 3 49880919 49880919 single base substitution A G upstream_gene_variant MELA-AU 3 49881065 49881065 single base substitution G A downstream_gene_variant MELA-AU 3 49881065 49881065 single base substitution G A exon_variant MELA-AU 3 49881065 49881065 single base substitution G A intron_variant MELA-AU 3 49881065 49881065 single base substitution G A upstream_gene_variant MELA-AU 3 49881076 49881076 single base substitution G A downstream_gene_variant MELA-AU 3 49881076 49881076 single base substitution G A exon_variant MELA-AU 3 49881076 49881076 single base substitution G A intron_variant MELA-AU 3 49881076 49881076 single base substitution G A upstream_gene_variant MELA-AU 3 49881103 49881104 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 49881103 49881104 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 3 49881103 49881104 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 49881103 49881104 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 49881339 49881339 single base substitution C G exon_variant MELA-AU 3 49881339 49881339 single base substitution C G intron_variant MELA-AU 3 49881339 49881339 single base substitution C G missense_variant Q101H 303G>C MELA-AU 3 49881339 49881339 single base substitution C G missense_variant Q103H 309G>C MELA-AU 3 49881339 49881339 single base substitution C G missense_variant Q85H 255G>C MELA-AU 3 49881339 49881339 single base substitution C G upstream_gene_variant MELA-AU 3 49881589 49881589 single base substitution G A intron_variant MELA-AU 3 49881589 49881589 single base substitution G A upstream_gene_variant MELA-AU 3 49882225 49882225 single base substitution G A intron_variant MELA-AU 3 49882225 49882225 single base substitution G A upstream_gene_variant MELA-AU 3 49882281 49882281 single base substitution G A intron_variant MELA-AU 3 49882281 49882281 single base substitution G A upstream_gene_variant MELA-AU 3 49882537 49882537 single base substitution G A intron_variant MELA-AU 3 49882537 49882537 single base substitution G A upstream_gene_variant MELA-AU 3 49883620 49883620 single base substitution G A intron_variant MELA-AU 3 49883620 49883620 single base substitution G A upstream_gene_variant MELA-AU 3 49883766 49883767 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 49883766 49883767 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 49884425 49884426 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 49884425 49884426 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 49884884 49884884 single base substitution G A intron_variant MELA-AU 3 49884884 49884884 single base substitution G A upstream_gene_variant MELA-AU 3 49885759 49885759 single base substitution G A intron_variant MELA-AU 3 49885759 49885759 single base substitution G A upstream_gene_variant MELA-AU 3 49885830 49885830 single base substitution G A intron_variant MELA-AU 3 49885830 49885830 single base substitution G A upstream_gene_variant MELA-AU 3 49885950 49885950 single base substitution G A intron_variant MELA-AU 3 49885950 49885950 single base substitution G A upstream_gene_variant MELA-AU 3 49886430 49886430 single base substitution C T intron_variant MELA-AU 3 49886430 49886430 single base substitution C T upstream_gene_variant MELA-AU 3 49888029 49888029 single base substitution G A intron_variant MELA-AU 3 49888046 49888046 single base substitution G A intron_variant MELA-AU 3 49888254 49888254 single base substitution A C intron_variant MELA-AU 3 49888545 49888545 single base substitution G A intron_variant MELA-AU 3 49889103 49889103 single base substitution G A intron_variant MELA-AU 3 49889150 49889150 single base substitution G A intron_variant MELA-AU 3 49889177 49889178 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 49889495 49889495 single base substitution G A intron_variant MELA-AU 3 49890909 49890909 single base substitution G A intron_variant MELA-AU 3 49891400 49891400 single base substitution G A intron_variant MELA-AU 3 49891773 49891773 single base substitution G A intron_variant MELA-AU 3 49891828 49891828 single base substitution G A intron_variant MELA-AU 3 49892136 49892136 single base substitution C T intron_variant MELA-AU 3 49892394 49892394 single base substitution G A intron_variant MELA-AU 3 49892446 49892446 single base substitution G A intron_variant MELA-AU 3 49892675 49892675 single base substitution G A intron_variant MELA-AU 3 49893222 49893222 single base substitution G A intron_variant MELA-AU 3 49893280 49893280 single base substitution C T intron_variant MELA-AU 3 49893998 49893998 single base substitution C T 5_prime_UTR_variant MELA-AU 3 49893998 49893998 single base substitution C T upstream_gene_variant MELA-AU 3 49894002 49894002 single base substitution G A 5_prime_UTR_variant MELA-AU 3 49894002 49894002 single base substitution G A upstream_gene_variant MELA-AU 3 49894012 49894012 single base substitution G A upstream_gene_variant MELA-AU 3 49894044 49894044 single base substitution G A upstream_gene_variant MELA-AU 3 49894073 49894073 single base substitution C T upstream_gene_variant MELA-AU 3 49894074 49894074 single base substitution G A upstream_gene_variant MELA-AU 3 49894075 49894075 single base substitution G A upstream_gene_variant MELA-AU 3 49894078 49894078 single base substitution G A upstream_gene_variant MELA-AU 3 49894090 49894090 single base substitution G A upstream_gene_variant MELA-AU 3 49894106 49894106 single base substitution C T upstream_gene_variant MELA-AU 3 49894662 49894662 single base substitution C T upstream_gene_variant MELA-AU 3 49895133 49895133 single base substitution C T upstream_gene_variant MELA-AU 3 49895245 49895245 single base substitution G A upstream_gene_variant MELA-AU 3 49895357 49895357 single base substitution C T upstream_gene_variant MELA-AU 3 49895382 49895382 single base substitution C T upstream_gene_variant MELA-AU 3 49895554 49895554 single base substitution G A upstream_gene_variant MELA-AU 3 49895940 49895940 single base substitution G A upstream_gene_variant MELA-AU 3 49896070 49896070 single base substitution G A upstream_gene_variant MELA-AU 3 49896229 49896229 single base substitution C T upstream_gene_variant MELA-AU 3 49896262 49896262 single base substitution C A upstream_gene_variant MELA-AU 3 49896401 49896401 single base substitution G A upstream_gene_variant MELA-AU 3 49896439 49896439 single base substitution G T upstream_gene_variant MELA-AU 3 49896455 49896455 single base substitution C T upstream_gene_variant MELA-AU 3 49896673 49896673 single base substitution C T upstream_gene_variant MELA-AU 3 49896723 49896723 single base substitution C T upstream_gene_variant MELA-AU 3 49896766 49896766 single base substitution C T upstream_gene_variant MELA-AU 3 49897152 49897152 single base substitution C T upstream_gene_variant MELA-AU 3 49897254 49897254 single base substitution C T upstream_gene_variant MELA-AU 3 49897699 49897699 single base substitution G A upstream_gene_variant MELA-AU 3 49897868 49897868 single base substitution C T upstream_gene_variant MELA-AU 3 49898378 49898378 single base substitution G A upstream_gene_variant MELA-AU 3 49898415 49898415 single base substitution G A upstream_gene_variant MELA-AU 3 49898560 49898561 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 49898583 49898583 single base substitution C T upstream_gene_variant MELA-AU 3 49898778 49898778 single base substitution G A upstream_gene_variant MELA-AU 3 49898778 49898779 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 49898779 49898779 single base substitution G A upstream_gene_variant ORCA-IN 3 49869924 49869924 deletion of <=200bp G - intron_variant ORCA-IN 3 49869924 49869924 deletion of <=200bp G - upstream_gene_variant ORCA-IN 3 49875905 49875905 single base substitution C T downstream_gene_variant ORCA-IN 3 49875905 49875905 single base substitution C T intron_variant OV-AU 3 49862176 49862176 single base substitution G A downstream_gene_variant OV-AU 3 49871404 49871404 single base substitution G T intron_variant OV-AU 3 49871404 49871404 single base substitution G T upstream_gene_variant OV-AU 3 49876449 49876449 single base substitution C T downstream_gene_variant OV-AU 3 49876449 49876449 single base substitution C T intron_variant OV-AU 3 49883138 49883138 single base substitution C T intron_variant OV-AU 3 49883138 49883138 single base substitution C T upstream_gene_variant OV-AU 3 49893288 49893288 single base substitution G C intron_variant OV-US 3 49885593 49885593 single base substitution G C exon_variant OV-US 3 49885593 49885593 single base substitution G C missense_variant P47A 139C>G OV-US 3 49885593 49885593 single base substitution G C upstream_gene_variant PACA-AU 3 49862422 49862422 single base substitution A C downstream_gene_variant PACA-AU 3 49875040 49875040 single base substitution G A downstream_gene_variant PACA-AU 3 49875040 49875040 single base substitution G A intron_variant PACA-AU 3 49884614 49884614 insertion of <=200bp - AAAT intron_variant PACA-AU 3 49884614 49884614 insertion of <=200bp - AAAT upstream_gene_variant PACA-AU 3 49884917 49884917 single base substitution C A intron_variant PACA-AU 3 49884917 49884917 single base substitution C A upstream_gene_variant PACA-AU 3 49886950 49886950 single base substitution C T intron_variant PACA-AU 3 49886950 49886950 single base substitution C T upstream_gene_variant PACA-AU 3 49897723 49897723 single base substitution G C upstream_gene_variant PACA-CA 3 49870717 49870717 single base substitution G T intron_variant PACA-CA 3 49870717 49870717 single base substitution G T upstream_gene_variant PACA-CA 3 49888833 49888833 deletion of <=200bp T - intron_variant PACA-CA 3 49889439 49889439 deletion of <=200bp T - intron_variant PACA-CA 3 49893895 49893895 single base substitution G A 5_prime_UTR_variant PACA-CA 3 49893895 49893895 single base substitution G A exon_variant PAEN-AU 3 49884614 49884614 insertion of <=200bp - AAATAAAT intron_variant PAEN-AU 3 49884614 49884614 insertion of <=200bp - AAATAAAT upstream_gene_variant PAEN-AU 3 49897385 49897385 single base substitution C G upstream_gene_variant PAEN-IT 3 49890198 49890198 single base substitution G T intron_variant PRAD-CA 3 49865628 49865628 single base substitution G A downstream_gene_variant PRAD-CA 3 49882916 49882916 single base substitution G A intron_variant PRAD-CA 3 49882916 49882916 single base substitution G A upstream_gene_variant PRAD-US 3 49881269 49881269 single base substitution A T downstream_gene_variant PRAD-US 3 49881269 49881269 single base substitution A T exon_variant PRAD-US 3 49881269 49881269 single base substitution A T intron_variant PRAD-US 3 49881269 49881269 single base substitution A T missense_variant L109M 325T>A PRAD-US 3 49881269 49881269 single base substitution A T missense_variant L125M 373T>A PRAD-US 3 49881269 49881269 single base substitution A T missense_variant L127M 379T>A PRAD-US 3 49881269 49881269 single base substitution A T upstream_gene_variant RECA-EU 3 49864924 49864924 single base substitution C A downstream_gene_variant SKCA-BR 3 49861204 49861204 single base substitution G A downstream_gene_variant SKCA-BR 3 49869924 49869924 insertion of <=200bp - GA intron_variant SKCA-BR 3 49869924 49869924 insertion of <=200bp - GA upstream_gene_variant SKCA-BR 3 49870460 49870460 single base substitution A C intron_variant SKCA-BR 3 49870460 49870460 single base substitution A C upstream_gene_variant SKCA-BR 3 49873839 49873839 single base substitution C A downstream_gene_variant SKCA-BR 3 49873839 49873839 single base substitution C A intron_variant SKCA-BR 3 49881555 49881555 single base substitution G A intron_variant SKCA-BR 3 49881555 49881555 single base substitution G A upstream_gene_variant SKCA-BR 3 49884245 49884245 single base substitution G A intron_variant SKCA-BR 3 49884245 49884245 single base substitution G A upstream_gene_variant SKCA-BR 3 49884624 49884624 single base substitution A G intron_variant SKCA-BR 3 49884624 49884624 single base substitution A G upstream_gene_variant SKCA-BR 3 49886765 49886765 single base substitution A T intron_variant SKCA-BR 3 49886765 49886765 single base substitution A T upstream_gene_variant SKCA-BR 3 49887277 49887277 insertion of <=200bp - TC intron_variant SKCA-BR 3 49887777 49887777 single base substitution G A intron_variant SKCA-BR 3 49889820 49889820 single base substitution G A intron_variant SKCA-BR 3 49890103 49890103 single base substitution G A intron_variant SKCA-BR 3 49890333 49890333 single base substitution T C intron_variant SKCA-BR 3 49892972 49892972 single base substitution G A intron_variant SKCA-BR 3 49892974 49892974 single base substitution G A intron_variant SKCA-BR 3 49893894 49893894 single base substitution G T 5_prime_UTR_variant SKCA-BR 3 49893894 49893894 single base substitution G T exon_variant SKCA-BR 3 49894012 49894012 single base substitution G A upstream_gene_variant SKCA-BR 3 49894021 49894021 single base substitution A G upstream_gene_variant SKCA-BR 3 49894030 49894030 single base substitution T C upstream_gene_variant SKCA-BR 3 49894044 49894044 single base substitution G A upstream_gene_variant SKCA-BR 3 49894413 49894413 single base substitution C T upstream_gene_variant SKCA-BR 3 49895137 49895137 single base substitution A G upstream_gene_variant SKCA-BR 3 49895989 49895989 single base substitution G A upstream_gene_variant SKCA-BR 3 49896952 49896952 single base substitution T G upstream_gene_variant SKCM-US 3 49866548 49866548 single base substitution G A 3_prime_UTR_variant SKCM-US 3 49866548 49866548 single base substitution G A downstream_gene_variant SKCM-US 3 49866548 49866548 single base substitution G A exon_variant SKCM-US 3 49866548 49866548 single base substitution G A synonymous_variant F466F 1398C>T SKCM-US 3 49866927 49866927 single base substitution G A 3_prime_UTR_variant SKCM-US 3 49866927 49866927 single base substitution G A downstream_gene_variant SKCM-US 3 49866927 49866927 single base substitution G A exon_variant SKCM-US 3 49866927 49866927 single base substitution G A synonymous_variant F262F 786C>T SKCM-US 3 49866927 49866927 single base substitution G A synonymous_variant F417F 1251C>T SKCM-US 3 49867482 49867482 single base substitution G A 3_prime_UTR_variant SKCM-US 3 49867482 49867482 single base substitution G A downstream_gene_variant SKCM-US 3 49867482 49867482 single base substitution G A missense_variant P198S 592C>T SKCM-US 3 49867482 49867482 single base substitution G A missense_variant P353S 1057C>T SKCM-US 3 49867482 49867482 single base substitution G A upstream_gene_variant SKCM-US 3 49869412 49869412 single base substitution G A exon_variant SKCM-US 3 49869412 49869412 single base substitution G A intron_variant SKCM-US 3 49869412 49869412 single base substitution G A missense_variant P170L 509C>T SKCM-US 3 49869412 49869412 single base substitution G A missense_variant P325L 974C>T SKCM-US 3 49869412 49869412 single base substitution G A upstream_gene_variant SKCM-US 3 49877783 49877783 single base substitution C T 3_prime_UTR_variant SKCM-US 3 49877783 49877783 single base substitution C T downstream_gene_variant SKCM-US 3 49877783 49877783 single base substitution C T exon_variant SKCM-US 3 49877783 49877783 single base substitution C T synonymous_variant L227L 681G>A SKCM-US 3 49877783 49877783 single base substitution C T synonymous_variant L243L 729G>A SKCM-US 3 49877783 49877783 single base substitution C T synonymous_variant L88L 264G>A SKCM-US 3 49878425 49878425 single base substitution C T downstream_gene_variant SKCM-US 3 49878425 49878425 single base substitution C T intron_variant SKCM-US 3 49878425 49878425 single base substitution C T missense_variant R217K 650G>A SKCM-US 3 49878425 49878425 single base substitution C T missense_variant R233K 698G>A SKCM-US 3 49878425 49878425 single base substitution C T upstream_gene_variant SKCM-US 3 49878431 49878431 single base substitution G A downstream_gene_variant SKCM-US 3 49878431 49878431 single base substitution G A intron_variant SKCM-US 3 49878431 49878431 single base substitution G A missense_variant S215F 644C>T SKCM-US 3 49878431 49878431 single base substitution G A missense_variant S231F 692C>T SKCM-US 3 49878431 49878431 single base substitution G A upstream_gene_variant SKCM-US 3 49881982 49881982 single base substitution G A exon_variant SKCM-US 3 49881982 49881982 single base substitution G A intron_variant SKCM-US 3 49881982 49881982 single base substitution G A missense_variant S75F 224C>T SKCM-US 3 49881982 49881982 single base substitution G A missense_variant S91F 272C>T SKCM-US 3 49881982 49881982 single base substitution G A missense_variant S93F 278C>T SKCM-US 3 49881982 49881982 single base substitution G A upstream_gene_variant SKCM-US 3 49896855 49896855 single base substitution C T upstream_gene_variant SKCM-US 3 49896972 49896972 single base substitution C T upstream_gene_variant SKCM-US 3 49897086 49897086 single base substitution C T upstream_gene_variant SKCM-US 3 49897117 49897117 single base substitution G A upstream_gene_variant SKCM-US 3 49897933 49897933 single base substitution G A upstream_gene_variant SKCM-US 3 49897956 49897956 single base substitution C T upstream_gene_variant SKCM-US 3 49898218 49898218 single base substitution G A upstream_gene_variant SKCM-US 3 49898227 49898227 single base substitution C T upstream_gene_variant SKCM-US 3 49898258 49898258 single base substitution C T upstream_gene_variant SKCM-US 3 49898378 49898378 single base substitution G A upstream_gene_variant SKCM-US 3 49898401 49898401 single base substitution C T upstream_gene_variant SKCM-US 3 49898415 49898415 single base substitution G A upstream_gene_variant SKCM-US 3 49898437 49898437 single base substitution C T upstream_gene_variant SKCM-US 3 49898612 49898612 single base substitution C T upstream_gene_variant SKCM-US 3 49898695 49898695 single base substitution C T upstream_gene_variant SKCM-US 3 49898722 49898722 single base substitution C T upstream_gene_variant SKCM-US 3 49898881 49898881 single base substitution C T upstream_gene_variant SKCM-US 3 49898976 49898976 single base substitution C T upstream_gene_variant STAD-US 3 49866635 49866635 single base substitution T C 3_prime_UTR_variant STAD-US 3 49866635 49866635 single base substitution T C downstream_gene_variant STAD-US 3 49866635 49866635 single base substitution T C exon_variant STAD-US 3 49866635 49866635 single base substitution T C synonymous_variant P437P 1311A>G STAD-US 3 49867138 49867138 single base substitution C T 3_prime_UTR_variant STAD-US 3 49867138 49867138 single base substitution C T downstream_gene_variant STAD-US 3 49867138 49867138 single base substitution C T exon_variant STAD-US 3 49867138 49867138 single base substitution C T missense_variant G228D 683G>A STAD-US 3 49867138 49867138 single base substitution C T missense_variant G383D 1148G>A STAD-US 3 49869390 49869390 single base substitution G A exon_variant STAD-US 3 49869390 49869390 single base substitution G A intron_variant STAD-US 3 49869390 49869390 single base substitution G A synonymous_variant S177S 531C>T STAD-US 3 49869390 49869390 single base substitution G A synonymous_variant S332S 996C>T STAD-US 3 49869390 49869390 single base substitution G A upstream_gene_variant STAD-US 3 49879261 49879261 single base substitution C A downstream_gene_variant STAD-US 3 49879261 49879261 single base substitution C A intron_variant STAD-US 3 49879261 49879261 single base substitution C A missense_variant K189N 567G>T STAD-US 3 49879261 49879261 single base substitution C A missense_variant K205N 615G>T STAD-US 3 49879261 49879261 single base substitution C A upstream_gene_variant STAD-US 3 49879890 49879890 single base substitution C A downstream_gene_variant STAD-US 3 49879890 49879890 single base substitution C A intron_variant STAD-US 3 49879890 49879890 single base substitution C A stop_gained E151* 451G>T STAD-US 3 49879890 49879890 single base substitution C A stop_gained E167* 499G>T STAD-US 3 49879890 49879890 single base substitution C A upstream_gene_variant STAD-US 3 49896836 49896836 deletion of <=200bp C - upstream_gene_variant STAD-US 3 49897038 49897038 single base substitution C T upstream_gene_variant STAD-US 3 49897278 49897278 single base substitution G A upstream_gene_variant STAD-US 3 49898646 49898646 single base substitution T C upstream_gene_variant STAD-US 3 49898891 49898891 single base substitution A G upstream_gene_variant STAD-US 3 49898957 49898957 single base substitution T C upstream_gene_variant STAD-US 3 49898998 49898998 single base substitution C T upstream_gene_variant THCA-SA 3 49866106 49866106 single base substitution T A 3_prime_UTR_variant THCA-SA 3 49866106 49866106 single base substitution T A downstream_gene_variant THCA-SA 3 49866106 49866106 single base substitution T A exon_variant THCA-US 3 49866894 49866894 single base substitution C T 3_prime_UTR_variant THCA-US 3 49866894 49866894 single base substitution C T downstream_gene_variant THCA-US 3 49866894 49866894 single base substitution C T exon_variant THCA-US 3 49866894 49866894 single base substitution C T synonymous_variant Q273Q 819G>A THCA-US 3 49866894 49866894 single base substitution C T synonymous_variant Q428Q 1284G>A THCA-US 3 49898222 49898222 single base substitution C A upstream_gene_variant UCEC-US 3 49866910 49866910 single base substitution C T 3_prime_UTR_variant UCEC-US 3 49866910 49866910 single base substitution C T downstream_gene_variant UCEC-US 3 49866910 49866910 single base substitution C T exon_variant UCEC-US 3 49866910 49866910 single base substitution C T missense_variant R268Q 803G>A UCEC-US 3 49866910 49866910 single base substitution C T missense_variant R423Q 1268G>A UCEC-US 3 49866927 49866927 single base substitution G A 3_prime_UTR_variant UCEC-US 3 49866927 49866927 single base substitution G A downstream_gene_variant UCEC-US 3 49866927 49866927 single base substitution G A exon_variant UCEC-US 3 49866927 49866927 single base substitution G A synonymous_variant F262F 786C>T UCEC-US 3 49866927 49866927 single base substitution G A synonymous_variant F417F 1251C>T UCEC-US 3 49867477 49867477 single base substitution C A 3_prime_UTR_variant UCEC-US 3 49867477 49867477 single base substitution C A downstream_gene_variant UCEC-US 3 49867477 49867477 single base substitution C A missense_variant K199N 597G>T UCEC-US 3 49867477 49867477 single base substitution C A missense_variant K354N 1062G>T UCEC-US 3 49867477 49867477 single base substitution C A upstream_gene_variant UCEC-US 3 49869357 49869357 single base substitution C A exon_variant UCEC-US 3 49869357 49869357 single base substitution C A intron_variant UCEC-US 3 49869357 49869357 single base substitution C A missense_variant E188D 564G>T UCEC-US 3 49869357 49869357 single base substitution C A missense_variant E343D 1029G>T UCEC-US 3 49869357 49869357 single base substitution C A upstream_gene_variant UCEC-US 3 49877282 49877282 single base substitution C A 3_prime_UTR_variant UCEC-US 3 49877282 49877282 single base substitution C A downstream_gene_variant UCEC-US 3 49877282 49877282 single base substitution C A exon_variant UCEC-US 3 49877282 49877282 single base substitution C A missense_variant K114N 342G>T UCEC-US 3 49877282 49877282 single base substitution C A missense_variant K253N 759G>T UCEC-US 3 49877282 49877282 single base substitution C A missense_variant K269N 807G>T UCEC-US 3 49878496 49878496 single base substitution C A downstream_gene_variant UCEC-US 3 49878496 49878496 single base substitution C A intron_variant UCEC-US 3 49878496 49878496 single base substitution C A missense_variant E193D 579G>T UCEC-US 3 49878496 49878496 single base substitution C A missense_variant E209D 627G>T UCEC-US 3 49878496 49878496 single base substitution C A upstream_gene_variant UCEC-US 3 49879919 49879919 single base substitution C T downstream_gene_variant UCEC-US 3 49879919 49879919 single base substitution C T exon_variant UCEC-US 3 49879919 49879919 single base substitution C T intron_variant UCEC-US 3 49879919 49879919 single base substitution C T missense_variant R141H 422G>A UCEC-US 3 49879919 49879919 single base substitution C T missense_variant R157H 470G>A UCEC-US 3 49879919 49879919 single base substitution C T upstream_gene_variant UCEC-US 3 49881330 49881330 single base substitution G A exon_variant UCEC-US 3 49881330 49881330 single base substitution G A intron_variant UCEC-US 3 49881330 49881330 single base substitution G A synonymous_variant I104I 312C>T UCEC-US 3 49881330 49881330 single base substitution G A synonymous_variant I106I 318C>T UCEC-US 3 49881330 49881330 single base substitution G A synonymous_variant I88I 264C>T UCEC-US 3 49881330 49881330 single base substitution G A upstream_gene_variant UCEC-US 3 49885583 49885583 single base substitution C T exon_variant UCEC-US 3 49885583 49885583 single base substitution C T missense_variant R50Q 149G>A UCEC-US 3 49885583 49885583 single base substitution C T upstream_gene_variant UCEC-US 3 49885601 49885601 single base substitution C T exon_variant UCEC-US 3 49885601 49885601 single base substitution C T missense_variant R44Q 131G>A UCEC-US 3 49885601 49885601 single base substitution C T upstream_gene_variant UCEC-US 3 49885612 49885612 single base substitution T A exon_variant UCEC-US 3 49885612 49885612 single base substitution T A synonymous_variant T40T 120A>T UCEC-US 3 49885612 49885612 single base substitution T A upstream_gene_variant UCEC-US 3 49896822 49896822 single base substitution C T upstream_gene_variant UCEC-US 3 49896986 49896986 single base substitution C T upstream_gene_variant UCEC-US 3 49897628 49897628 single base substitution C A upstream_gene_variant UCEC-US 3 49898210 49898210 single base substitution G T upstream_gene_variant UCEC-US 3 49898377 49898377 single base substitution G A upstream_gene_variant UCEC-US 3 49898420 49898420 single base substitution T C upstream_gene_variant UCEC-US 3 49898436 49898436 single base substitution C T upstream_gene_variant UCEC-US 3 49898890 49898890 single base substitution G A upstream_gene_variant UCEC-US 3 49898939 49898939 single base substitution A G upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PD9759a COSM5793984 c.20G>A p.C7Y Substitution - Missense 3:49856434-49856434 - TCGA-CA-6718-01 COSM1424041 c.937G>T p.D313Y Substitution - Missense 3:49832016-49832016 - YUWIA COSM5399617 c.637G>A p.E213K Substitution - Missense 3:49841053-49841053 - MO_1012 COSM5559489 c.1180C>A p.L394I Substitution - Missense 3:49829673-49829673 - TCGA-AP-A0LD-01 COSM1046295 c.1268G>A p.R423Q Substitution - Missense 3:49829477-49829477 - SA210 COSM213857 c.561G>C p.M187I Substitution - Missense 3:49841882-49841882 - TCGA-FW-A3R5-06 COSM3916284 c.974C>T p.P325L Substitution - Missense 3:49831979-49831979 - SC_9081 COSM5552781 c.385G>A p.E129K Substitution - Missense 3:49843824-49843824 - 2492703 COSM5600717 c.608C>T p.S203F Substitution - Missense 3:49841835-49841835 - TCGA-33-4586-01 COSM731241 c.323G>A p.R108Q Substitution - Missense 3:49843886-49843886 - sysucc-1317T COSM5449889 c.1150G>A p.A384T Substitution - Missense 3:49829703-49829703 - TCGA-EE-A2MI-06 COSM3595416 c.698G>A p.R233K Substitution - Missense 3:49840992-49840992 - S02337 COSM4386938 c.381G>C p.K127N Substitution - Missense 3:49843828-49843828 - 1N58-VS-1T58 COSM4977505 c.1208G>A p.R403K Substitution - Missense 3:49829645-49829645 - TCGA-A5-A0VP-01 COSM1046301 c.470G>A p.R157H Substitution - Missense 3:49842486-49842486 - TCGA-GN-A26C-01 COSM3595417 c.692C>T p.S231F Substitution - Missense 3:49840998-49840998 - TCGA-HU-A4H8-01 COSM4118622 c.996C>T p.S332S Substitution - coding silent 3:49831957-49831957 - TCGA-AP-A0LP-01 COSM1046304 c.131G>A p.R44Q Substitution - Missense 3:49848168-49848168 - 2492701 COSM5600717 c.608C>T p.S203F Substitution - Missense 3:49841835-49841835 - TCGA-AM-5820-01 COSM3760152 c.1362A>C p.T454T Substitution - coding silent 3:49829151-49829151 - CHOL12 COSM1744607 c.635A>G p.K212R Substitution - Missense 3:49841055-49841055 - T3021 COSM4735725 c.474G>A p.R158R Substitution - coding silent 3:49842482-49842482 - TCGA-EE-A3J7-06 COSM3916285 c.729G>A p.L243L Substitution - coding silent 3:49840350-49840350 - TCGA-BR-7707-01 COSM4118624 c.499G>T p.E167* Substitution - Nonsense 3:49842457-49842457 - TCGA-AA-3663-01 COSM1424042 c.757G>T p.A253S Substitution - Missense 3:49840322-49840322 - TCGA-19-1789 COSM2155993 c.773A>G p.Q258R Substitution - Missense 3:49840306-49840306 - ESCC-D8 COSM5046473 c.808A>C p.K270Q Substitution - Missense 3:49839848-49839848 - YUPAER COSM5399616 c.917G>C p.R306P Substitution - Missense 3:49832036-49832036 - pfg181T COSM4754880 c.1070G>A p.C357Y Substitution - Missense 3:49830036-49830036 - TCGA-B5-A0JY-01 COSM1046305 c.120A>T p.T40T Substitution - coding silent 3:49848179-49848179 - TCGA-FW-A3R5-06 COSM3916283 c.1057C>T p.P353S Substitution - Missense 3:49830049-49830049 - H2171 COSM14047 c.921G>A p.R307R Substitution - coding silent 3:49832032-49832032 - cSCCP7 COSM139458 c.1156C>T p.P386S Substitution - Missense 3:49829697-49829697 - TCGA-AY-5543-01 COSM1424044 c.384C>T p.A128A Substitution - coding silent 3:49843825-49843825 - 2492729 COSM5726721 c.139C>T p.P47S Substitution - Missense 3:49848160-49848160 - TCGA-DH-A66B-01 COSM3974470 c.1169G>A p.R390Q Substitution - Missense 3:49829684-49829684 - T-g COSM308432 c.303G>A p.Q101Q Substitution - coding silent 3:49843906-49843906 - TCGA-CA-6717-01 COSM3696331 c.1082G>T p.R361M Substitution - Missense 3:49830024-49830024 - TCGA-34-5928-01 COSM731240 c.189C>G p.F63L Substitution - Missense 3:49847576-49847576 - LIM1215 COSM4325131 c.1170G>A p.R390R Substitution - coding silent 3:49829683-49829683 - TCGA-D1-A176-01 COSM1046303 c.149G>A p.R50Q Substitution - Missense 3:49848150-49848150 - 2492702 COSM5600717 c.608C>T p.S203F Substitution - Missense 3:49841835-49841835 - TCGA-D1-A17Q-01 COSM1046296 c.1251C>T p.F417F Substitution - coding silent 3:49829494-49829494 - TCGA-CM-6171-01 COSM1424045 c.313G>A p.D105N Substitution - Missense 3:49843896-49843896 - NCI-H2171 COSM14047 c.921G>A p.R307R Substitution - coding silent 3:49832032-49832032 - TCGA-EP-A26S-01 COSM4913593 c.1087G>A p.E363K Substitution - Missense 3:49829766-49829766 - BD72T COSM5511898 c.617+5G>A p.? Unknown 3:49841821-49841821 - YUSCA COSM139458 c.1156C>T p.P386S Substitution - Missense 3:49829697-49829697 - TCGA-B5-A0JY-01 COSM1046299 c.807G>T p.K269N Substitution - Missense 3:49839849-49839849 - Au2 COSM5600717 c.608C>T p.S203F Substitution - Missense 3:49841835-49841835 - TCGA-EK-A3GN-01 COSM4854666 c.1167C>T p.V389V Substitution - coding silent 3:49829686-49829686 - TCGA-ET-A3DP-01 COSM3373230 c.1284G>A p.Q428Q Substitution - coding silent 3:49829461-49829461 - 86793 COSM96250 c.1044A>T p.P348P Substitution - coding silent 3:49830062-49830062 - TCGA-AA-3715-01 COSM293697 c.1164delT p.F388fs*7 Deletion - Frameshift 3:49829689-49829689 - 17766 COSM48823 c.1203G>T p.R401S Substitution - Missense 3:49829650-49829650 - TCGA-G3-A25W-01 COSM4927296 c.916C>T p.R306C Substitution - Missense 3:49832037-49832037 - TCGA-B5-A11E-01 COSM1046297 c.1062G>T p.K354N Substitution - Missense 3:49830044-49830044 - TCGA-D1-A17Q-01 COSM1046302 c.312C>T p.I104I Substitution - coding silent 3:49843897-49843897 - TCGA-19-1789 COSM2155953 c.769T>C p.L257L Substitution - coding silent 3:49840310-49840310 - YUKAT COSM5399614 c.1058C>T p.P353L Substitution - Missense 3:49830048-49830048 - TCGA-D1-A17Q-01 COSM1046300 c.627G>T p.E209D Substitution - Missense 3:49841063-49841063 - SM-4B296 COSM4410342 c.686T>G p.L229W Substitution - Missense 3:49841004-49841004 - 391 COSM98345 c.272C>T p.S91F Substitution - Missense 3:49844549-49844549 - TCGA-D9-A3Z1-06 COSM98345 c.272C>T p.S91F Substitution - Missense 3:49844549-49844549 - C467 COSM4442159 c.865G>A p.D289N Substitution - Missense 3:49839791-49839791 - LAU618 COSM98345 c.272C>T p.S91F Substitution - Missense 3:49844549-49844549 - TCGA-19-1789 COSM2155918 c.768C>G p.D256E Substitution - Missense 3:49840311-49840311 - PD9759a COSM5772712 c.21C>A p.C7* Substitution - Nonsense 3:49856433-49856433 - TCGA-28-5211-01 COSM3408752 c.943G>T p.D315Y Substitution - Missense 3:49832010-49832010 - STC252 COSM5059819 c.240G>T p.K80N Substitution - Missense 3:49847525-49847525 - ESO-859 COSM1240504 c.296A>T p.D99V Substitution - Missense 3:49843913-49843913 - TCGA-D9-A6EC-06 COSM4404102 c.1398C>T p.F466F Substitution - coding silent 3:49829115-49829115 - TCGA-BR-8680-01 COSM4118623 c.615G>T p.K205N Substitution - Missense 3:49841828-49841828 - 433 COSM4433684 c.702C>A p.S234R Substitution - Missense 3:49840988-49840988 - YUKAT COSM5399618 c.519C>T p.L173L Substitution - coding silent 3:49841924-49841924 - 391 COSM98345 c.272C>T p.S91F Substitution - Missense 3:49844549-49844549 - TCGA-BR-A4QL-01 COSM4118620 c.1311A>G p.P437P Substitution - coding silent 3:49829202-49829202 - NCI-H1770 COSM14048 c.1179C>T p.I393I Substitution - coding silent 3:49829674-49829674 - TCGA-24-1435-01 COSM76803 c.139C>G p.P47A Substitution - Missense 3:49848160-49848160 - TCGA-14-1037 COSM2155298 c.771A>G p.L257L Substitution - coding silent 3:49840308-49840308 - CHC433T COSM217276 c.504-1C>T p.? Unknown TCGA-D1-A17Q-01 COSM1046298 c.1029G>T p.E343D Substitution - Missense 3:49831924-49831924 - TCGA-A6-5661-01 COSM1424043 c.540G>A p.V180V Substitution - coding silent 3:49841903-49841903 - TCGA-EJ-A46G-01 COSM3783731 c.373T>A p.L125M Substitution - Missense 3:49843836-49843836 - TCGA-D5-6928-01 COSM242029 c.920G>A p.R307Q Substitution - Missense 3:49832033-49832033 - SNU-175 COSM2850581 c.872T>C p.L291P Substitution - Missense 3:49839784-49839784 - BD114T COSM5502711 c.98+9C>T p.? Unknown 3:49856347-49856347 - NB-0433 COSM1288612 c.1110C>T p.G370G Substitution - coding silent 3:49829743-49829743 - ESCC-F49 COSM5047888 c.1359G>T p.K453N Substitution - Missense 3:49829154-49829154 - T-g COSM308431 c.99-9T>G p.? Unknown 3:49848209-49848209 - CSCC-45-T COSM4521962 c.1138G>A p.E380K Substitution - Missense 3:49829715-49829715 - TCGA-BH-A0H7-01 COSM446729 c.645G>T p.R215R Substitution - coding silent 3:49841045-49841045 - 2492700 COSM5600717 c.608C>T p.S203F Substitution - Missense 3:49841835-49841835 - TCGA-19-1789 COSM2155952 c.771A>C p.L257F Substitution - Missense 3:49840308-49840308 - ATL059 COSM5708816 c.1310C>T p.P437L Substitution - Missense 3:49829203-49829203 - TCGA-CD-8526-01 COSM4118621 c.1148G>A p.G383D Substitution - Missense 3:49829705-49829705 - CHC433T COSM251180 c.504-1G>A p.? Unknown 3:49841940-49841940 - CHC433T COSM251180 c.504-1G>A p.? Unknown 3:49841940-49841940 - TCGA-FW-A3R5-06 COSM1046296 c.1251C>T p.F417F Substitution - coding silent 3:49829494-49829494 - TCGA-AZ-4315-01 COSM1424039 c.1307G>A p.R436H Substitution - Missense 3:49829206-49829206 - YUPAER COSM5399615 c.919C>T p.R307W Substitution - Missense 3:49832034-49832034 - CHC433T COSM251180 c.504-1G>A p.? Unknown 3:49841940-49841940 - BD114T COSM5502710 c.201C>T p.A67A Substitution - coding silent 3:49847564-49847564 - WA16 COSM242029 c.920G>A p.R307Q Substitution - Missense 3:49832033-49832033 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.517970;Hs.517972 3p21.31 605958

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.M187T c.560T>C 3 49879316 LUAD A T Missense p.L125M c.373T>A 3 49881269 PRAD C A Missense p.D315Y c.943G>T 3 49869443 GBM C A Missense p.R401S c.1203G>T 3 49867083 LUAD C A SpliceAcceptorSNV . c.1237-1G>T 3 49866942 LUAD C A Synonymous p.R215R c.645G>T 3 49878478 BRCA C G Missense p.M187I c.561G>C 3 49879315 BRCA C T IntronicSNV . c.795+34G>A 3 49877683 NSCLC C T Missense p.R233K c.698G>A 3 49878425 CM C T Missense p.R423Q c.1268G>A 3 49866910 UCEC C T Missense p.R44Q c.131G>A 3 49885601 UCEC C T Missense p.R50Q c.149G>A 3 49885583 UCEC C T Synonymous p.L243L c.729G>A 3 49877783 CM C T Synonymous p.Q428Q c.1284G>A 3 49866894 THCA G A IntronicSNV . c.408+32C>T 3 49881202 CM G A Missense p.S231F c.692C>T 3 49878431 CM G A Synonymous p.F426F c.1278C>T 3 49866900 CM G A Synonymous p.G370G c.1110C>T 3 49867176 NB G A Synonymous p.T277T c.831C>T 3 49877258 CM G C Missense p.F63L c.189C>G 3 49885009 LUSC G C Missense p.P47A c.139C>G 3 49885593 OV GG AA Missense p.S231F c.692_693delinsTT 3 49878430 CM T A Missense p.D99V c.296A>T 3 49881346 ESCA