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 7 5256811 5256811 + Missense_Mutation SNP T T G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 g.chr7:5256811T>G c.569T>G c.(568-570)aTt>aGt p.I190S BLCA 7 5269255 5269255 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 g.chr7:5269255G>C c.1138G>C c.(1138-1140)Gaa>Caa p.E380Q BLCA 7 5269364 5269364 + Missense_Mutation SNP G G C TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 g.chr7:5269364G>C c.1247G>C c.(1246-1248)aGa>aCa p.R416T BRCA 7 5256252 5256252 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr7:5256252T>G c.440T>G c.(439-441)gTg>gGg p.V147G BRCA 7 5256731 5256731 + Silent SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr7:5256731G>A c.489G>A c.(487-489)gcG>gcA p.A163A BRCA 7 5265559 5265559 + Silent SNP A A G TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr7:5265559A>G c.846A>G c.(844-846)gaA>gaG p.E282E CESC 7 5254158 5254158 + Intron SNP G G C TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 g.chr7:5254158G>C CESC 7 5267828 5267828 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr7:5267828G>A c.1107G>A c.(1105-1107)ctG>ctA p.L369L COAD 7 5239272 5239272 + Missense_Mutation SNP A A G TCGA-A6-5659-01A-01D-1650-10 TCGA-A6-5659-11A-01D-1650-10 g.chr7:5239272A>G c.194A>G c.(193-195)gAa>gGa p.E65G COAD 7 5239272 5239272 + Missense_Mutation SNP A A G TCGA-A6-6138-01A-11D-1771-10 TCGA-A6-6138-10A-01D-1771-10 g.chr7:5239272A>G c.194A>G c.(193-195)gAa>gGa p.E65G COAD 7 5239272 5239272 + Missense_Mutation SNP A A G TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr7:5239272A>G c.194A>G c.(193-195)gAa>gGa p.E65G COAD 7 5239272 5239272 + Missense_Mutation SNP A A G TCGA-G4-6306-01A-11D-1771-10 TCGA-G4-6306-10A-01D-1771-10 g.chr7:5239272A>G c.194A>G c.(193-195)gAa>gGa p.E65G COAD 7 5239273 5239273 + Silent SNP A A G TCGA-AD-6890-01A-11D-1924-10 TCGA-AD-6890-10A-01D-1924-10 g.chr7:5239273A>G c.195A>G c.(193-195)gaA>gaG p.E65E COAD 7 5239273 5239273 + Silent SNP A A G TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr7:5239273A>G c.195A>G c.(193-195)gaA>gaG p.E65E COAD 7 5239273 5239273 + Silent SNP A A G TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr7:5239273A>G c.195A>G c.(193-195)gaA>gaG p.E65E COAD 7 5239273 5239273 + Silent SNP A A G TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr7:5239273A>G c.195A>G c.(193-195)gaA>gaG p.E65E COAD 7 5254282 5254282 + Missense_Mutation SNP A A C TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr7:5254282A>C c.328A>C c.(328-330)Atc>Ctc p.I110L COAD 7 5256730 5256730 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr7:5256730C>T c.488C>T c.(487-489)gCg>gTg p.A163V COAD 7 5256731 5256731 + Silent SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr7:5256731G>A c.489G>A c.(487-489)gcG>gcA p.A163A COAD 7 5256747 5256747 + Missense_Mutation SNP G G A TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr7:5256747G>A c.505G>A c.(505-507)Gac>Aac p.D169N COAD 7 5256786 5256786 + Missense_Mutation SNP G G A TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr7:5256786G>A c.544G>A c.(544-546)Gga>Aga p.G182R COAD 7 5262287 5262287 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr7:5262287C>T c.724C>T c.(724-726)Cgg>Tgg p.R242W COAD 7 5269346 5269346 + Missense_Mutation SNP T T C TCGA-AA-3831-01A-01W-0900-09 TCGA-AA-3831-10A-01W-0900-09 g.chr7:5269346T>C c.1229T>C c.(1228-1230)gTg>gCg p.V410A COADREAD 7 5239272 5239272 + Missense_Mutation SNP A A G TCGA-A6-5659-01A-01D-1650-10 TCGA-A6-5659-11A-01D-1650-10 g.chr7:5239272A>G c.194A>G c.(193-195)gAa>gGa p.E65G COADREAD 7 5239272 5239272 + Missense_Mutation SNP A A G TCGA-A6-6138-01A-11D-1771-10 TCGA-A6-6138-10A-01D-1771-10 g.chr7:5239272A>G c.194A>G c.(193-195)gAa>gGa p.E65G COADREAD 7 5239272 5239272 + Missense_Mutation SNP A A G TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr7:5239272A>G c.194A>G c.(193-195)gAa>gGa p.E65G COADREAD 7 5239272 5239272 + Missense_Mutation SNP A A G TCGA-G4-6306-01A-11D-1771-10 TCGA-G4-6306-10A-01D-1771-10 g.chr7:5239272A>G c.194A>G c.(193-195)gAa>gGa p.E65G COADREAD 7 5239273 5239273 + Silent SNP A A G TCGA-AD-6890-01A-11D-1924-10 TCGA-AD-6890-10A-01D-1924-10 g.chr7:5239273A>G c.195A>G c.(193-195)gaA>gaG p.E65E COADREAD 7 5239273 5239273 + Silent SNP A A G TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr7:5239273A>G c.195A>G c.(193-195)gaA>gaG p.E65E COADREAD 7 5239273 5239273 + Silent SNP A A G TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr7:5239273A>G c.195A>G c.(193-195)gaA>gaG p.E65E COADREAD 7 5239273 5239273 + Silent SNP A A G TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr7:5239273A>G c.195A>G c.(193-195)gaA>gaG p.E65E COADREAD 7 5254282 5254282 + Missense_Mutation SNP A A C TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr7:5254282A>C c.328A>C c.(328-330)Atc>Ctc p.I110L COADREAD 7 5256730 5256730 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr7:5256730C>T c.488C>T c.(487-489)gCg>gTg p.A163V COADREAD 7 5256731 5256731 + Silent SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr7:5256731G>A c.489G>A c.(487-489)gcG>gcA p.A163A COADREAD 7 5256747 5256747 + Missense_Mutation SNP G G A TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr7:5256747G>A c.505G>A c.(505-507)Gac>Aac p.D169N COADREAD 7 5256786 5256786 + Missense_Mutation SNP G G A TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr7:5256786G>A c.544G>A c.(544-546)Gga>Aga p.G182R COADREAD 7 5262287 5262287 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr7:5262287C>T c.724C>T c.(724-726)Cgg>Tgg p.R242W COADREAD 7 5269346 5269346 + Missense_Mutation SNP T T C TCGA-AA-3831-01A-01W-0900-09 TCGA-AA-3831-10A-01W-0900-09 g.chr7:5269346T>C c.1229T>C c.(1228-1230)gTg>gCg p.V410A DLBC 7 5257639 5257639 + Silent SNP G G A TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr7:5257639G>A c.663G>A c.(661-663)tcG>tcA p.S221S GBMLGG 7 5232791 5232791 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:5232791C>T c.117C>T c.(115-117)cgC>cgT p.R39R GBMLGG 7 5256279 5256279 + Missense_Mutation SNP C C T TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 g.chr7:5256279C>T c.467C>T c.(466-468)cCa>cTa p.P156L GBMLGG 7 5256804 5256804 + Missense_Mutation SNP G G A TCGA-P5-A5EX-01A-12D-A289-08 TCGA-P5-A5EX-10A-01D-A289-08 g.chr7:5256804G>A c.562G>A c.(562-564)Gat>Aat p.D188N GBMLGG 7 5270498 5270498 + Missense_Mutation SNP G G A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 g.chr7:5270498G>A c.1285G>A c.(1285-1287)Gcc>Acc p.A429T HNSC 7 5232766 5232766 + Nonsense_Mutation SNP C C G TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 g.chr7:5232766C>G c.92C>G c.(91-93)tCa>tGa p.S31* LGG 7 5232791 5232791 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:5232791C>T c.117C>T c.(115-117)cgC>cgT p.R39R LGG 7 5256279 5256279 + Missense_Mutation SNP C C T TCGA-DU-5874-01A-11D-1705-08 TCGA-DU-5874-10A-01D-1705-08 g.chr7:5256279C>T c.467C>T c.(466-468)cCa>cTa p.P156L LGG 7 5256804 5256804 + Missense_Mutation SNP G G A TCGA-P5-A5EX-01A-12D-A289-08 TCGA-P5-A5EX-10A-01D-A289-08 g.chr7:5256804G>A c.562G>A c.(562-564)Gat>Aat p.D188N LGG 7 5270498 5270498 + Missense_Mutation SNP G G A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 g.chr7:5270498G>A c.1285G>A c.(1285-1287)Gcc>Acc p.A429T LUAD 7 5239262 5239262 + Missense_Mutation SNP G G T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr7:5239262G>T c.184G>T c.(184-186)Gat>Tat p.D62Y LUAD 7 5239290 5239290 + Splice_Site SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 g.chr7:5239290G>A c.e3+1 LUAD 7 5256250 5256250 + Silent SNP G G A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 g.chr7:5256250G>A c.438G>A c.(436-438)aaG>aaA p.K146K LUAD 7 5265457 5265457 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr7:5265457C>T c.744C>T c.(742-744)tgC>tgT p.C248C LUAD 7 5266848 5266848 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 g.chr7:5266848G>T c.886G>T c.(886-888)Ggg>Tgg p.G296W LUAD 7 5266859 5266859 + Silent SNP C C T TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr7:5266859C>T c.897C>T c.(895-897)ctC>ctT p.L299L LUAD 7 5270471 5270471 + Missense_Mutation SNP A A G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr7:5270471A>G c.1258A>G c.(1258-1260)Aca>Gca p.T420A LUSC 7 5262287 5262287 + Silent SNP C C A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 g.chr7:5262287C>A c.724C>A c.(724-726)Cgg>Agg p.R242R OV 7 5239271 5239271 + Missense_Mutation SNP G G C TCGA-25-2404-01A-01W-0799-08 TCGA-25-2404-10A-01W-0799-08 g.chr7:5239271G>C c.193G>C c.(193-195)Gaa>Caa p.E65Q OV 7 5257579 5257579 + Silent SNP C C T TCGA-31-1953-01A-01W-0699-08 TCGA-31-1953-10A-01W-0699-08 g.chr7:5257579C>T c.603C>T c.(601-603)caC>caT p.H201H PAAD 7 5232787 5232787 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 g.chr7:5232787G>A c.113G>A c.(112-114)cGt>cAt p.R38H PAAD 7 5269261 5269261 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:5269261A>G c.1144A>G c.(1144-1146)Acc>Gcc p.T382A SARC 7 5254196 5254196 + Missense_Mutation SNP G G C TCGA-FX-A2QS-01A-11D-A21Q-09 TCGA-FX-A2QS-11A-11D-A21Q-09 g.chr7:5254196G>C c.242G>C c.(241-243)aGa>aCa p.R81T SKCM 7 5254224 5254224 + Silent SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr7:5254224C>T c.270C>T c.(268-270)atC>atT p.I90I SKCM 7 5256236 5256236 + Missense_Mutation SNP A A G TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 g.chr7:5256236A>G c.424A>G c.(424-426)Att>Gtt p.I142V SKCM 7 5262246 5262246 + Missense_Mutation SNP G G A TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr7:5262246G>A c.683G>A c.(682-684)aGg>aAg p.R228K SKCM 7 5269352 5269352 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr7:5269352C>T c.1235C>T c.(1234-1236)tCa>tTa p.S412L SKCM 7 5270477 5270477 + Missense_Mutation SNP G G C TCGA-D3-A3CC-06A-11D-A19A-08 TCGA-D3-A3CC-10A-01D-A19A-08 g.chr7:5270477G>C c.1264G>C c.(1264-1266)Gac>Cac p.D422H

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 7 5225749 5225749 single base substitution G T upstream_gene_variant BRCA-EU 7 5227203 5227203 single base substitution G A upstream_gene_variant BRCA-EU 7 5228240 5228240 single base substitution G A upstream_gene_variant BRCA-EU 7 5229065 5229065 single base substitution C T upstream_gene_variant BRCA-EU 7 5229656 5229656 single base substitution T A upstream_gene_variant BRCA-EU 7 5230628 5230628 deletion of <=200bp T - intron_variant BRCA-EU 7 5231049 5231049 single base substitution G A intron_variant BRCA-EU 7 5231464 5231464 single base substitution C T intron_variant BRCA-EU 7 5231753 5231753 single base substitution G C intron_variant BRCA-EU 7 5231855 5231855 single base substitution G A intron_variant BRCA-EU 7 5231950 5231950 single base substitution A T intron_variant BRCA-EU 7 5233274 5233274 single base substitution A G intron_variant BRCA-EU 7 5235635 5235635 single base substitution C T intron_variant BRCA-EU 7 5235979 5235979 deletion of <=200bp A - intron_variant BRCA-EU 7 5239757 5239757 single base substitution G C intron_variant BRCA-EU 7 5240366 5240366 single base substitution G A intron_variant BRCA-EU 7 5240424 5240424 single base substitution C T intron_variant BRCA-EU 7 5240918 5240918 single base substitution A C intron_variant BRCA-EU 7 5243728 5243728 single base substitution G C intron_variant BRCA-EU 7 5244294 5244294 single base substitution T C intron_variant BRCA-EU 7 5244491 5244491 single base substitution G C intron_variant BRCA-EU 7 5246365 5246366 deletion of <=200bp AC - intron_variant BRCA-EU 7 5247081 5247081 deletion of <=200bp T - intron_variant BRCA-EU 7 5247368 5247368 single base substitution G C intron_variant BRCA-EU 7 5247428 5247428 single base substitution T A intron_variant BRCA-EU 7 5247429 5247429 single base substitution C G intron_variant BRCA-EU 7 5247852 5247852 single base substitution G A intron_variant BRCA-EU 7 5249041 5249041 single base substitution C T intron_variant BRCA-EU 7 5249041 5249041 single base substitution C T upstream_gene_variant BRCA-EU 7 5249627 5249627 single base substitution C T intron_variant BRCA-EU 7 5249627 5249627 single base substitution C T upstream_gene_variant BRCA-EU 7 5250424 5250424 single base substitution G A intron_variant BRCA-EU 7 5250424 5250424 single base substitution G A upstream_gene_variant BRCA-EU 7 5250594 5250594 single base substitution A G intron_variant BRCA-EU 7 5250594 5250594 single base substitution A G upstream_gene_variant BRCA-EU 7 5251192 5251192 single base substitution A G intron_variant BRCA-EU 7 5251192 5251192 single base substitution A G upstream_gene_variant BRCA-EU 7 5252019 5252019 single base substitution G C intron_variant BRCA-EU 7 5252019 5252019 single base substitution G C upstream_gene_variant BRCA-EU 7 5253124 5253124 single base substitution C A intron_variant BRCA-EU 7 5253124 5253124 single base substitution C A upstream_gene_variant BRCA-EU 7 5254848 5254848 single base substitution A C downstream_gene_variant BRCA-EU 7 5254848 5254848 single base substitution A C intron_variant BRCA-EU 7 5254848 5254848 single base substitution A C upstream_gene_variant BRCA-EU 7 5255112 5255112 single base substitution C G downstream_gene_variant BRCA-EU 7 5255112 5255112 single base substitution C G intron_variant BRCA-EU 7 5255112 5255112 single base substitution C G upstream_gene_variant BRCA-EU 7 5255164 5255164 single base substitution G A downstream_gene_variant BRCA-EU 7 5255164 5255164 single base substitution G A intron_variant BRCA-EU 7 5255164 5255164 single base substitution G A upstream_gene_variant BRCA-EU 7 5255984 5255984 single base substitution A G downstream_gene_variant BRCA-EU 7 5255984 5255984 single base substitution A G intron_variant BRCA-EU 7 5255984 5255984 single base substitution A G upstream_gene_variant BRCA-EU 7 5256193 5256193 single base substitution G C downstream_gene_variant BRCA-EU 7 5256193 5256193 single base substitution G C splice_acceptor_variant BRCA-EU 7 5256193 5256193 single base substitution G C upstream_gene_variant BRCA-EU 7 5258497 5258497 single base substitution C T downstream_gene_variant BRCA-EU 7 5258497 5258497 single base substitution C T exon_variant BRCA-EU 7 5258497 5258497 single base substitution C T intron_variant BRCA-EU 7 5258986 5258986 single base substitution A G downstream_gene_variant BRCA-EU 7 5258986 5258986 single base substitution A G intron_variant BRCA-EU 7 5261931 5261931 single base substitution T C downstream_gene_variant BRCA-EU 7 5261931 5261931 single base substitution T C intron_variant BRCA-EU 7 5261931 5261931 single base substitution T C upstream_gene_variant BRCA-EU 7 5261967 5261967 single base substitution G C downstream_gene_variant BRCA-EU 7 5261967 5261967 single base substitution G C intron_variant BRCA-EU 7 5261967 5261967 single base substitution G C upstream_gene_variant BRCA-EU 7 5263295 5263295 single base substitution C T downstream_gene_variant BRCA-EU 7 5263295 5263295 single base substitution C T intron_variant BRCA-EU 7 5263295 5263295 single base substitution C T upstream_gene_variant BRCA-EU 7 5263448 5263448 single base substitution C T downstream_gene_variant BRCA-EU 7 5263448 5263448 single base substitution C T intron_variant BRCA-EU 7 5263448 5263448 single base substitution C T upstream_gene_variant BRCA-EU 7 5264782 5264782 single base substitution A T downstream_gene_variant BRCA-EU 7 5264782 5264782 single base substitution A T intron_variant BRCA-EU 7 5264782 5264782 single base substitution A T upstream_gene_variant BRCA-EU 7 5265284 5265284 single base substitution G A downstream_gene_variant BRCA-EU 7 5265284 5265284 single base substitution G A intron_variant BRCA-EU 7 5265284 5265284 single base substitution G A upstream_gene_variant BRCA-EU 7 5267724 5267724 single base substitution A G downstream_gene_variant BRCA-EU 7 5267724 5267724 single base substitution A G intron_variant BRCA-EU 7 5267724 5267724 single base substitution A G upstream_gene_variant BRCA-EU 7 5267744 5267744 single base substitution G T downstream_gene_variant BRCA-EU 7 5267744 5267744 single base substitution G T exon_variant BRCA-EU 7 5267744 5267744 single base substitution G T missense_variant K282N 846G>T BRCA-EU 7 5267744 5267744 single base substitution G T missense_variant K323N 969G>T BRCA-EU 7 5267744 5267744 single base substitution G T missense_variant K341N 1023G>T BRCA-EU 7 5267744 5267744 single base substitution G T upstream_gene_variant BRCA-EU 7 5270064 5270064 single base substitution C G downstream_gene_variant BRCA-EU 7 5270064 5270064 single base substitution C G intron_variant BRCA-EU 7 5270127 5270127 single base substitution C T downstream_gene_variant BRCA-EU 7 5270127 5270127 single base substitution C T intron_variant BRCA-EU 7 5271337 5271337 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 5271337 5271337 single base substitution G A downstream_gene_variant BRCA-EU 7 5271337 5271337 single base substitution G A exon_variant BRCA-EU 7 5271459 5271459 single base substitution G C 3_prime_UTR_variant BRCA-EU 7 5271459 5271459 single base substitution G C downstream_gene_variant BRCA-EU 7 5272161 5272161 single base substitution T C 3_prime_UTR_variant BRCA-EU 7 5272161 5272161 single base substitution T C downstream_gene_variant BRCA-EU 7 5273211 5273211 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 5273211 5273211 single base substitution C T downstream_gene_variant BRCA-EU 7 5274848 5274848 single base substitution C T downstream_gene_variant BRCA-EU 7 5275536 5275536 single base substitution C G downstream_gene_variant BRCA-EU 7 5276107 5276107 single base substitution C T downstream_gene_variant BRCA-EU 7 5277942 5277942 deletion of <=200bp C - downstream_gene_variant BRCA-FR 7 5239507 5239507 single base substitution G A intron_variant BRCA-FR 7 5240424 5240424 single base substitution C T intron_variant BRCA-FR 7 5250424 5250424 single base substitution G A intron_variant BRCA-FR 7 5250424 5250424 single base substitution G A upstream_gene_variant BRCA-FR 7 5258497 5258497 single base substitution C T downstream_gene_variant BRCA-FR 7 5258497 5258497 single base substitution C T exon_variant BRCA-FR 7 5258497 5258497 single base substitution C T intron_variant BRCA-FR 7 5265284 5265284 single base substitution G A downstream_gene_variant BRCA-FR 7 5265284 5265284 single base substitution G A intron_variant BRCA-FR 7 5265284 5265284 single base substitution G A upstream_gene_variant BRCA-UK 7 5247852 5247852 single base substitution G A intron_variant BRCA-UK 7 5253124 5253124 single base substitution C A intron_variant BRCA-UK 7 5253124 5253124 single base substitution C A upstream_gene_variant BRCA-UK 7 5255984 5255984 single base substitution A G downstream_gene_variant BRCA-UK 7 5255984 5255984 single base substitution A G intron_variant BRCA-UK 7 5255984 5255984 single base substitution A G upstream_gene_variant BRCA-UK 7 5261931 5261931 single base substitution T C downstream_gene_variant BRCA-UK 7 5261931 5261931 single base substitution T C intron_variant BRCA-UK 7 5261931 5261931 single base substitution T C upstream_gene_variant BRCA-US 7 5256252 5256252 single base substitution T G downstream_gene_variant BRCA-US 7 5256252 5256252 single base substitution T G exon_variant BRCA-US 7 5256252 5256252 single base substitution T G missense_variant V129G 386T>G BRCA-US 7 5256252 5256252 single base substitution T G missense_variant V147G 440T>G BRCA-US 7 5256252 5256252 single base substitution T G missense_variant V88G 263T>G BRCA-US 7 5256731 5256731 single base substitution G A downstream_gene_variant BRCA-US 7 5256731 5256731 single base substitution G A exon_variant BRCA-US 7 5256731 5256731 single base substitution G A synonymous_variant A104A 312G>A BRCA-US 7 5256731 5256731 single base substitution G A synonymous_variant A145A 435G>A BRCA-US 7 5256731 5256731 single base substitution G A synonymous_variant A163A 489G>A BRCA-US 7 5265559 5265559 single base substitution A G downstream_gene_variant BRCA-US 7 5265559 5265559 single base substitution A G exon_variant BRCA-US 7 5265559 5265559 single base substitution A G splice_region_variant BRCA-US 7 5265559 5265559 single base substitution A G upstream_gene_variant BTCA-JP 7 5269259 5269259 single base substitution C T downstream_gene_variant BTCA-JP 7 5269259 5269259 single base substitution C T exon_variant BTCA-JP 7 5269259 5269259 single base substitution C T missense_variant T322M 965C>T BTCA-JP 7 5269259 5269259 single base substitution C T missense_variant T363M 1088C>T BTCA-JP 7 5269259 5269259 single base substitution C T missense_variant T381M 1142C>T BTCA-JP 7 5270513 5270513 single base substitution G A downstream_gene_variant BTCA-JP 7 5270513 5270513 single base substitution G A exon_variant BTCA-JP 7 5270513 5270513 single base substitution G A missense_variant E364K 1090G>A BTCA-JP 7 5270513 5270513 single base substitution G A missense_variant E405K 1213G>A BTCA-JP 7 5270513 5270513 single base substitution G A missense_variant E416K 1246G>A BTCA-JP 7 5270513 5270513 single base substitution G A missense_variant E423K 1267G>A BTCA-JP 7 5270513 5270513 single base substitution G A missense_variant E434K 1300G>A CESC-US 7 5254158 5254158 single base substitution G C exon_variant CESC-US 7 5254158 5254158 single base substitution G C intron_variant CESC-US 7 5254158 5254158 single base substitution G C splice_region_variant CESC-US 7 5254158 5254158 single base substitution G C synonymous_variant V9V 27G>C CESC-US 7 5254158 5254158 single base substitution G C upstream_gene_variant CESC-US 7 5256388 5256388 single base substitution G A downstream_gene_variant CESC-US 7 5256388 5256388 single base substitution G A exon_variant CESC-US 7 5256388 5256388 single base substitution G A intron_variant CESC-US 7 5267828 5267828 single base substitution G A downstream_gene_variant CESC-US 7 5267828 5267828 single base substitution G A exon_variant CESC-US 7 5267828 5267828 single base substitution G A synonymous_variant L310L 930G>A CESC-US 7 5267828 5267828 single base substitution G A synonymous_variant L351L 1053G>A CESC-US 7 5267828 5267828 single base substitution G A synonymous_variant L369L 1107G>A CESC-US 7 5267828 5267828 single base substitution G A upstream_gene_variant CLLE-ES 7 5265527 5265527 single base substitution G T downstream_gene_variant CLLE-ES 7 5265527 5265527 single base substitution G T exon_variant CLLE-ES 7 5265527 5265527 single base substitution G T missense_variant V213L 637G>T CLLE-ES 7 5265527 5265527 single base substitution G T missense_variant V254L 760G>T CLLE-ES 7 5265527 5265527 single base substitution G T missense_variant V272L 814G>T CLLE-ES 7 5265527 5265527 single base substitution G T upstream_gene_variant CLLE-ES 7 5267495 5267495 single base substitution T C downstream_gene_variant CLLE-ES 7 5267495 5267495 single base substitution T C intron_variant CLLE-ES 7 5267495 5267495 single base substitution T C upstream_gene_variant COAD-US 7 5256730 5256730 single base substitution C T downstream_gene_variant COAD-US 7 5256730 5256730 single base substitution C T exon_variant COAD-US 7 5256730 5256730 single base substitution C T missense_variant A104V 311C>T COAD-US 7 5256730 5256730 single base substitution C T missense_variant A145V 434C>T COAD-US 7 5256730 5256730 single base substitution C T missense_variant A163V 488C>T COAD-US 7 5256731 5256731 single base substitution G A downstream_gene_variant COAD-US 7 5256731 5256731 single base substitution G A exon_variant COAD-US 7 5256731 5256731 single base substitution G A synonymous_variant A104A 312G>A COAD-US 7 5256731 5256731 single base substitution G A synonymous_variant A145A 435G>A COAD-US 7 5256731 5256731 single base substitution G A synonymous_variant A163A 489G>A COAD-US 7 5256786 5256786 single base substitution G A downstream_gene_variant COAD-US 7 5256786 5256786 single base substitution G A exon_variant COAD-US 7 5256786 5256786 single base substitution G A missense_variant G123R 367G>A COAD-US 7 5256786 5256786 single base substitution G A missense_variant G164R 490G>A COAD-US 7 5256786 5256786 single base substitution G A missense_variant G182R 544G>A COAD-US 7 5257573 5257573 single base substitution G A downstream_gene_variant COAD-US 7 5257573 5257573 single base substitution G A exon_variant COAD-US 7 5257573 5257573 single base substitution G A synonymous_variant P140P 420G>A COAD-US 7 5257573 5257573 single base substitution G A synonymous_variant P181P 543G>A COAD-US 7 5257573 5257573 single base substitution G A synonymous_variant P199P 597G>A COAD-US 7 5262287 5262287 single base substitution C T downstream_gene_variant COAD-US 7 5262287 5262287 single base substitution C T exon_variant COAD-US 7 5262287 5262287 single base substitution C T missense_variant R183W 547C>T COAD-US 7 5262287 5262287 single base substitution C T missense_variant R224W 670C>T COAD-US 7 5262287 5262287 single base substitution C T missense_variant R242W 724C>T COAD-US 7 5262287 5262287 single base substitution C T upstream_gene_variant COAD-US 7 5266847 5266847 single base substitution C T downstream_gene_variant COAD-US 7 5266847 5266847 single base substitution C T exon_variant COAD-US 7 5266847 5266847 single base substitution C T synonymous_variant F236F 708C>T COAD-US 7 5266847 5266847 single base substitution C T synonymous_variant F277F 831C>T COAD-US 7 5266847 5266847 single base substitution C T synonymous_variant F295F 885C>T COAD-US 7 5266847 5266847 single base substitution C T upstream_gene_variant COCA-CN 7 5233895 5233895 single base substitution G T intron_variant COCA-CN 7 5234077 5234077 single base substitution T C intron_variant COCA-CN 7 5236698 5236698 single base substitution G A intron_variant COCA-CN 7 5239246 5239246 single base substitution C A exon_variant COCA-CN 7 5239246 5239246 single base substitution C A missense_variant F38L 114C>A COCA-CN 7 5239246 5239246 single base substitution C A missense_variant F56L 168C>A COCA-CN 7 5239973 5239973 single base substitution C T intron_variant COCA-CN 7 5244339 5244339 single base substitution A T intron_variant COCA-CN 7 5262453 5262453 single base substitution G A downstream_gene_variant COCA-CN 7 5262453 5262453 single base substitution G A intron_variant COCA-CN 7 5262453 5262453 single base substitution G A upstream_gene_variant COCA-CN 7 5265784 5265784 single base substitution C T downstream_gene_variant COCA-CN 7 5265784 5265784 single base substitution C T exon_variant COCA-CN 7 5265784 5265784 single base substitution C T intron_variant COCA-CN 7 5265784 5265784 single base substitution C T upstream_gene_variant COCA-CN 7 5266945 5266945 single base substitution G T downstream_gene_variant COCA-CN 7 5266945 5266945 single base substitution G T exon_variant COCA-CN 7 5266945 5266945 single base substitution G T missense_variant C269F 806G>T COCA-CN 7 5266945 5266945 single base substitution G T missense_variant C310F 929G>T COCA-CN 7 5266945 5266945 single base substitution G T missense_variant C328F 983G>T COCA-CN 7 5266945 5266945 single base substitution G T upstream_gene_variant COCA-CN 7 5269320 5269320 single base substitution C T downstream_gene_variant COCA-CN 7 5269320 5269320 single base substitution C T exon_variant COCA-CN 7 5269320 5269320 single base substitution C T synonymous_variant G342G 1026C>T COCA-CN 7 5269320 5269320 single base substitution C T synonymous_variant G383G 1149C>T COCA-CN 7 5269320 5269320 single base substitution C T synonymous_variant G401G 1203C>T COCA-CN 7 5270412 5270412 single base substitution G T downstream_gene_variant COCA-CN 7 5270412 5270412 single base substitution G T intron_variant COCA-CN 7 5278152 5278152 single base substitution T A downstream_gene_variant EOPC-DE 7 5277068 5277068 single base substitution A G downstream_gene_variant ESAD-UK 7 5225517 5225517 single base substitution A C upstream_gene_variant ESAD-UK 7 5226064 5226064 single base substitution C A upstream_gene_variant ESAD-UK 7 5226964 5226964 single base substitution C T upstream_gene_variant ESAD-UK 7 5227192 5227192 single base substitution C G upstream_gene_variant ESAD-UK 7 5227310 5227310 single base substitution G A upstream_gene_variant ESAD-UK 7 5229058 5229058 insertion of <=200bp - C upstream_gene_variant ESAD-UK 7 5233056 5233056 single base substitution C T intron_variant ESAD-UK 7 5233492 5233492 single base substitution G A intron_variant ESAD-UK 7 5236641 5236641 single base substitution G T intron_variant ESAD-UK 7 5236889 5236889 single base substitution A G intron_variant ESAD-UK 7 5239480 5239480 single base substitution A T intron_variant ESAD-UK 7 5243389 5243389 single base substitution G A intron_variant ESAD-UK 7 5244082 5244082 single base substitution C G intron_variant ESAD-UK 7 5244603 5244603 single base substitution G T intron_variant ESAD-UK 7 5245910 5245910 single base substitution T G intron_variant ESAD-UK 7 5246738 5246738 single base substitution C T intron_variant ESAD-UK 7 5247613 5247613 single base substitution C T intron_variant ESAD-UK 7 5248506 5248506 single base substitution T A intron_variant ESAD-UK 7 5248914 5248914 single base substitution T C intron_variant ESAD-UK 7 5248914 5248914 single base substitution T C upstream_gene_variant ESAD-UK 7 5249319 5249319 single base substitution G C intron_variant ESAD-UK 7 5249319 5249319 single base substitution G C upstream_gene_variant ESAD-UK 7 5249579 5249579 single base substitution C T intron_variant ESAD-UK 7 5249579 5249579 single base substitution C T upstream_gene_variant ESAD-UK 7 5249764 5249764 single base substitution G A intron_variant ESAD-UK 7 5249764 5249764 single base substitution G A upstream_gene_variant ESAD-UK 7 5256795 5256795 single base substitution C T downstream_gene_variant ESAD-UK 7 5256795 5256795 single base substitution C T exon_variant ESAD-UK 7 5256795 5256795 single base substitution C T stop_gained Q126* 376C>T ESAD-UK 7 5256795 5256795 single base substitution C T stop_gained Q167* 499C>T ESAD-UK 7 5256795 5256795 single base substitution C T stop_gained Q185* 553C>T ESAD-UK 7 5257434 5257434 single base substitution T A downstream_gene_variant ESAD-UK 7 5257434 5257434 single base substitution T A exon_variant ESAD-UK 7 5257434 5257434 single base substitution T A intron_variant ESAD-UK 7 5259833 5259833 single base substitution G A downstream_gene_variant ESAD-UK 7 5259833 5259833 single base substitution G A intron_variant ESAD-UK 7 5264428 5264428 single base substitution C T downstream_gene_variant ESAD-UK 7 5264428 5264428 single base substitution C T intron_variant ESAD-UK 7 5264428 5264428 single base substitution C T upstream_gene_variant ESAD-UK 7 5264576 5264576 single base substitution C T downstream_gene_variant ESAD-UK 7 5264576 5264576 single base substitution C T intron_variant ESAD-UK 7 5264576 5264576 single base substitution C T upstream_gene_variant ESAD-UK 7 5267411 5267411 single base substitution C T downstream_gene_variant ESAD-UK 7 5267411 5267411 single base substitution C T intron_variant ESAD-UK 7 5267411 5267411 single base substitution C T upstream_gene_variant ESAD-UK 7 5267538 5267538 single base substitution G A downstream_gene_variant ESAD-UK 7 5267538 5267538 single base substitution G A intron_variant ESAD-UK 7 5267538 5267538 single base substitution G A upstream_gene_variant ESAD-UK 7 5271475 5271475 single base substitution G A 3_prime_UTR_variant ESAD-UK 7 5271475 5271475 single base substitution G A downstream_gene_variant ESAD-UK 7 5271571 5271571 single base substitution G A 3_prime_UTR_variant ESAD-UK 7 5271571 5271571 single base substitution G A downstream_gene_variant ESAD-UK 7 5273513 5273513 single base substitution G A downstream_gene_variant ESAD-UK 7 5274781 5274781 single base substitution A G downstream_gene_variant ESCA-CN 7 5232809 5232809 single base substitution T G exon_variant ESCA-CN 7 5232809 5232809 single base substitution T G intron_variant ESCA-CN 7 5232809 5232809 single base substitution T G splice_region_variant ESCA-CN 7 5267814 5267814 single base substitution G A downstream_gene_variant ESCA-CN 7 5267814 5267814 single base substitution G A exon_variant ESCA-CN 7 5267814 5267814 single base substitution G A missense_variant G306S 916G>A ESCA-CN 7 5267814 5267814 single base substitution G A missense_variant G347S 1039G>A ESCA-CN 7 5267814 5267814 single base substitution G A missense_variant G365S 1093G>A ESCA-CN 7 5267814 5267814 single base substitution G A upstream_gene_variant KIRC-US 7 5269291 5269291 single base substitution G A downstream_gene_variant KIRC-US 7 5269291 5269291 single base substitution G A exon_variant KIRC-US 7 5269291 5269291 single base substitution G A missense_variant D333N 997G>A KIRC-US 7 5269291 5269291 single base substitution G A missense_variant D374N 1120G>A KIRC-US 7 5269291 5269291 single base substitution G A missense_variant D392N 1174G>A LAML-KR 7 5226546 5226546 single base substitution C T upstream_gene_variant LAML-KR 7 5248946 5248946 single base substitution A G intron_variant LAML-KR 7 5248946 5248946 single base substitution A G upstream_gene_variant LGG-US 7 5256279 5256279 single base substitution C T downstream_gene_variant LGG-US 7 5256279 5256279 single base substitution C T exon_variant LGG-US 7 5256279 5256279 single base substitution C T missense_variant P138L 413C>T LGG-US 7 5256279 5256279 single base substitution C T missense_variant P156L 467C>T LGG-US 7 5256279 5256279 single base substitution C T missense_variant P97L 290C>T LGG-US 7 5256804 5256804 single base substitution G A downstream_gene_variant LGG-US 7 5256804 5256804 single base substitution G A exon_variant LGG-US 7 5256804 5256804 single base substitution G A missense_variant D129N 385G>A LGG-US 7 5256804 5256804 single base substitution G A missense_variant D170N 508G>A LGG-US 7 5256804 5256804 single base substitution G A missense_variant D188N 562G>A LGG-US 7 5270498 5270498 single base substitution G A downstream_gene_variant LGG-US 7 5270498 5270498 single base substitution G A exon_variant LGG-US 7 5270498 5270498 single base substitution G A missense_variant A359T 1075G>A LGG-US 7 5270498 5270498 single base substitution G A missense_variant A400T 1198G>A LGG-US 7 5270498 5270498 single base substitution G A missense_variant A411T 1231G>A LGG-US 7 5270498 5270498 single base substitution G A missense_variant A418T 1252G>A LGG-US 7 5270498 5270498 single base substitution G A missense_variant A429T 1285G>A LICA-CN 7 5256734 5256734 single base substitution G C downstream_gene_variant LICA-CN 7 5256734 5256734 single base substitution G C exon_variant LICA-CN 7 5256734 5256734 single base substitution G C synonymous_variant L105L 315G>C LICA-CN 7 5256734 5256734 single base substitution G C synonymous_variant L146L 438G>C LICA-CN 7 5256734 5256734 single base substitution G C synonymous_variant L164L 492G>C LICA-FR 7 5231063 5231063 single base substitution G A intron_variant LICA-FR 7 5237664 5237664 single base substitution G T intron_variant LICA-FR 7 5244143 5244143 single base substitution C T intron_variant LICA-FR 7 5256786 5256786 single base substitution G A downstream_gene_variant LICA-FR 7 5256786 5256786 single base substitution G A exon_variant LICA-FR 7 5256786 5256786 single base substitution G A missense_variant G123R 367G>A LICA-FR 7 5256786 5256786 single base substitution G A missense_variant G164R 490G>A LICA-FR 7 5256786 5256786 single base substitution G A missense_variant G182R 544G>A LICA-FR 7 5270467 5270467 single base substitution C G downstream_gene_variant LICA-FR 7 5270467 5270467 single base substitution C G splice_region_variant LINC-JP 7 5227004 5227004 single base substitution C T upstream_gene_variant LINC-JP 7 5227613 5227613 single base substitution C T upstream_gene_variant LINC-JP 7 5231045 5231045 single base substitution A G intron_variant LINC-JP 7 5233023 5233023 single base substitution A G intron_variant LINC-JP 7 5253968 5253968 single base substitution A T 5_prime_UTR_variant LINC-JP 7 5253968 5253968 single base substitution A T exon_variant LINC-JP 7 5253968 5253968 single base substitution A T intron_variant LINC-JP 7 5253968 5253968 single base substitution A T upstream_gene_variant LINC-JP 7 5269561 5269561 deletion of <=200bp T - downstream_gene_variant LINC-JP 7 5269561 5269561 deletion of <=200bp T - intron_variant LIRI-JP 7 5226461 5226461 single base substitution G T upstream_gene_variant LIRI-JP 7 5229164 5229164 single base substitution C A upstream_gene_variant LIRI-JP 7 5229430 5229430 single base substitution G C upstream_gene_variant LIRI-JP 7 5234025 5234025 single base substitution G T intron_variant LIRI-JP 7 5234157 5234157 single base substitution A C intron_variant LIRI-JP 7 5234233 5234233 single base substitution A G intron_variant LIRI-JP 7 5234445 5234445 single base substitution G A intron_variant LIRI-JP 7 5238502 5238502 single base substitution G T intron_variant LIRI-JP 7 5239507 5239507 single base substitution G A intron_variant LIRI-JP 7 5241771 5241771 single base substitution G A intron_variant LIRI-JP 7 5245671 5245671 single base substitution T G intron_variant LIRI-JP 7 5245865 5245865 single base substitution C G intron_variant LIRI-JP 7 5247640 5247640 single base substitution G T intron_variant LIRI-JP 7 5247974 5247974 single base substitution A G intron_variant LIRI-JP 7 5248516 5248516 single base substitution G T intron_variant LIRI-JP 7 5249129 5249129 single base substitution A G intron_variant LIRI-JP 7 5249129 5249129 single base substitution A G upstream_gene_variant LIRI-JP 7 5249701 5249701 single base substitution G T intron_variant LIRI-JP 7 5249701 5249701 single base substitution G T upstream_gene_variant LIRI-JP 7 5250699 5250699 single base substitution G C intron_variant LIRI-JP 7 5250699 5250699 single base substitution G C upstream_gene_variant LIRI-JP 7 5252950 5252950 single base substitution A G exon_variant LIRI-JP 7 5252950 5252950 single base substitution A G intron_variant LIRI-JP 7 5252950 5252950 single base substitution A G upstream_gene_variant LIRI-JP 7 5257425 5257425 single base substitution T C downstream_gene_variant LIRI-JP 7 5257425 5257425 single base substitution T C exon_variant LIRI-JP 7 5257425 5257425 single base substitution T C intron_variant LIRI-JP 7 5259110 5259110 single base substitution G A downstream_gene_variant LIRI-JP 7 5259110 5259110 single base substitution G A intron_variant LIRI-JP 7 5259244 5259244 single base substitution G A downstream_gene_variant LIRI-JP 7 5259244 5259244 single base substitution G A intron_variant LIRI-JP 7 5264435 5264435 single base substitution G A downstream_gene_variant LIRI-JP 7 5264435 5264435 single base substitution G A intron_variant LIRI-JP 7 5264435 5264435 single base substitution G A upstream_gene_variant LIRI-JP 7 5266721 5266721 single base substitution G A downstream_gene_variant LIRI-JP 7 5266721 5266721 single base substitution G A exon_variant LIRI-JP 7 5266721 5266721 single base substitution G A intron_variant LIRI-JP 7 5266721 5266721 single base substitution G A upstream_gene_variant LIRI-JP 7 5277173 5277173 insertion of <=200bp - A downstream_gene_variant LIRI-JP 7 5278357 5278357 single base substitution T C downstream_gene_variant LUSC-KR 7 5225084 5225084 single base substitution A G upstream_gene_variant LUSC-KR 7 5225394 5225394 single base substitution G A upstream_gene_variant LUSC-KR 7 5228470 5228470 single base substitution C T upstream_gene_variant LUSC-KR 7 5229954 5229954 single base substitution G C 5_prime_UTR_variant LUSC-KR 7 5229954 5229954 single base substitution G C exon_variant LUSC-KR 7 5229954 5229954 single base substitution G C upstream_gene_variant LUSC-KR 7 5230994 5230994 single base substitution A T intron_variant LUSC-KR 7 5238126 5238126 single base substitution G A intron_variant LUSC-KR 7 5238754 5238754 single base substitution G T intron_variant LUSC-KR 7 5253251 5253251 single base substitution G C intron_variant LUSC-KR 7 5253251 5253251 single base substitution G C upstream_gene_variant LUSC-KR 7 5255420 5255420 single base substitution G T downstream_gene_variant LUSC-KR 7 5255420 5255420 single base substitution G T intron_variant LUSC-KR 7 5255420 5255420 single base substitution G T upstream_gene_variant LUSC-KR 7 5256582 5256582 single base substitution C T downstream_gene_variant LUSC-KR 7 5256582 5256582 single base substitution C T intron_variant LUSC-KR 7 5269458 5269458 single base substitution G T downstream_gene_variant LUSC-KR 7 5269458 5269458 single base substitution G T intron_variant LUSC-KR 7 5277357 5277357 single base substitution C A downstream_gene_variant LUSC-US 7 5262287 5262287 single base substitution C A downstream_gene_variant LUSC-US 7 5262287 5262287 single base substitution C A exon_variant LUSC-US 7 5262287 5262287 single base substitution C A synonymous_variant R183R 547C>A LUSC-US 7 5262287 5262287 single base substitution C A synonymous_variant R224R 670C>A LUSC-US 7 5262287 5262287 single base substitution C A synonymous_variant R242R 724C>A LUSC-US 7 5262287 5262287 single base substitution C A upstream_gene_variant MALY-DE 7 5234183 5234183 single base substitution G A intron_variant MALY-DE 7 5235931 5235931 single base substitution G A intron_variant MALY-DE 7 5239341 5239341 single base substitution A C intron_variant MALY-DE 7 5241231 5241231 single base substitution G A intron_variant MALY-DE 7 5243257 5243266 deletion of <=200bp TTTTTTTTTT - intron_variant MALY-DE 7 5256240 5256240 single base substitution G T downstream_gene_variant MALY-DE 7 5256240 5256240 single base substitution G T exon_variant MALY-DE 7 5256240 5256240 single base substitution G T missense_variant R125L 374G>T MALY-DE 7 5256240 5256240 single base substitution G T missense_variant R143L 428G>T MALY-DE 7 5256240 5256240 single base substitution G T missense_variant R84L 251G>T MALY-DE 7 5260161 5260161 single base substitution C T downstream_gene_variant MALY-DE 7 5260161 5260161 single base substitution C T intron_variant MALY-DE 7 5265309 5265309 single base substitution T C downstream_gene_variant MALY-DE 7 5265309 5265309 single base substitution T C intron_variant MALY-DE 7 5265309 5265309 single base substitution T C upstream_gene_variant MALY-DE 7 5269949 5269949 single base substitution G T downstream_gene_variant MALY-DE 7 5269949 5269949 single base substitution G T intron_variant MALY-DE 7 5274551 5274551 single base substitution G C downstream_gene_variant MELA-AU 7 5224847 5224847 single base substitution C T upstream_gene_variant MELA-AU 7 5225061 5225061 single base substitution C T upstream_gene_variant MELA-AU 7 5225176 5225176 single base substitution G A upstream_gene_variant MELA-AU 7 5225313 5225313 single base substitution C T upstream_gene_variant MELA-AU 7 5225361 5225361 single base substitution C T upstream_gene_variant MELA-AU 7 5225759 5225759 single base substitution G A upstream_gene_variant MELA-AU 7 5225777 5225777 single base substitution G A upstream_gene_variant MELA-AU 7 5225798 5225798 single base substitution C T upstream_gene_variant MELA-AU 7 5226726 5226726 single base substitution C T upstream_gene_variant MELA-AU 7 5226772 5226772 single base substitution G A upstream_gene_variant MELA-AU 7 5226784 5226784 single base substitution C T upstream_gene_variant MELA-AU 7 5227003 5227003 single base substitution C T upstream_gene_variant MELA-AU 7 5227262 5227262 single base substitution T G upstream_gene_variant MELA-AU 7 5227285 5227285 single base substitution C T upstream_gene_variant MELA-AU 7 5227424 5227424 single base substitution C T upstream_gene_variant MELA-AU 7 5227644 5227644 single base substitution C T upstream_gene_variant MELA-AU 7 5227785 5227786 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 5228397 5228397 single base substitution C T upstream_gene_variant MELA-AU 7 5228702 5228702 single base substitution G A upstream_gene_variant MELA-AU 7 5229783 5229783 single base substitution G A upstream_gene_variant MELA-AU 7 5229829 5229829 single base substitution G A 5_prime_UTR_variant MELA-AU 7 5229829 5229829 single base substitution G A upstream_gene_variant MELA-AU 7 5229832 5229832 single base substitution G A 5_prime_UTR_variant MELA-AU 7 5229832 5229832 single base substitution G A upstream_gene_variant MELA-AU 7 5229980 5229980 single base substitution C T 5_prime_UTR_variant MELA-AU 7 5229980 5229980 single base substitution C T exon_variant MELA-AU 7 5229980 5229980 single base substitution C T upstream_gene_variant MELA-AU 7 5230366 5230366 single base substitution C T exon_variant MELA-AU 7 5230366 5230366 single base substitution C T intron_variant MELA-AU 7 5230970 5230970 single base substitution G C intron_variant MELA-AU 7 5232280 5232281 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 5233297 5233297 single base substitution C T intron_variant MELA-AU 7 5233459 5233459 single base substitution T C intron_variant MELA-AU 7 5233611 5233611 single base substitution C T intron_variant MELA-AU 7 5233648 5233648 single base substitution C T intron_variant MELA-AU 7 5233753 5233753 single base substitution C T intron_variant MELA-AU 7 5234511 5234511 single base substitution T G intron_variant MELA-AU 7 5234614 5234614 single base substitution G A intron_variant MELA-AU 7 5235143 5235143 single base substitution C T intron_variant MELA-AU 7 5235301 5235301 single base substitution C T intron_variant MELA-AU 7 5235467 5235467 single base substitution C T intron_variant MELA-AU 7 5236340 5236340 single base substitution C T intron_variant MELA-AU 7 5236997 5236997 single base substitution C T intron_variant MELA-AU 7 5237116 5237116 single base substitution C T intron_variant MELA-AU 7 5237455 5237456 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 7 5237745 5237745 single base substitution C T intron_variant MELA-AU 7 5237801 5237801 single base substitution C T intron_variant MELA-AU 7 5238681 5238681 single base substitution C T intron_variant MELA-AU 7 5238766 5238766 single base substitution C T intron_variant MELA-AU 7 5240276 5240276 single base substitution C T intron_variant MELA-AU 7 5240347 5240347 single base substitution G A intron_variant MELA-AU 7 5240487 5240487 single base substitution C T intron_variant MELA-AU 7 5241722 5241722 single base substitution C T intron_variant MELA-AU 7 5241894 5241895 multiple base substitution (>=2bp and <=200bp) AC GT intron_variant MELA-AU 7 5242378 5242378 single base substitution C T intron_variant MELA-AU 7 5242478 5242478 single base substitution C T intron_variant MELA-AU 7 5243038 5243038 single base substitution C T intron_variant MELA-AU 7 5243074 5243074 single base substitution G A intron_variant MELA-AU 7 5243294 5243294 single base substitution C T intron_variant MELA-AU 7 5243362 5243362 single base substitution C T intron_variant MELA-AU 7 5243810 5243810 single base substitution C T intron_variant MELA-AU 7 5243819 5243819 single base substitution C T intron_variant MELA-AU 7 5243865 5243865 single base substitution A T intron_variant MELA-AU 7 5244649 5244649 single base substitution C T intron_variant MELA-AU 7 5244806 5244806 single base substitution C T intron_variant MELA-AU 7 5244900 5244900 single base substitution C T intron_variant MELA-AU 7 5245866 5245866 single base substitution C T intron_variant MELA-AU 7 5246334 5246334 single base substitution C T intron_variant MELA-AU 7 5246515 5246515 single base substitution C T intron_variant MELA-AU 7 5246581 5246581 single base substitution C T intron_variant MELA-AU 7 5247280 5247280 single base substitution T C intron_variant MELA-AU 7 5247435 5247435 single base substitution C T intron_variant MELA-AU 7 5247489 5247490 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 5247504 5247504 single base substitution C T intron_variant MELA-AU 7 5247654 5247654 single base substitution C T intron_variant MELA-AU 7 5248031 5248031 single base substitution T G intron_variant MELA-AU 7 5248078 5248078 single base substitution T G intron_variant MELA-AU 7 5248088 5248088 single base substitution C T intron_variant MELA-AU 7 5248265 5248265 single base substitution T G intron_variant MELA-AU 7 5249515 5249515 single base substitution C T intron_variant MELA-AU 7 5249515 5249515 single base substitution C T upstream_gene_variant MELA-AU 7 5249715 5249715 deletion of <=200bp T - intron_variant MELA-AU 7 5249715 5249715 deletion of <=200bp T - upstream_gene_variant MELA-AU 7 5251027 5251027 single base substitution C G intron_variant MELA-AU 7 5251027 5251027 single base substitution C G upstream_gene_variant MELA-AU 7 5251072 5251072 single base substitution C T intron_variant MELA-AU 7 5251072 5251072 single base substitution C T upstream_gene_variant MELA-AU 7 5251763 5251763 single base substitution C T intron_variant MELA-AU 7 5251763 5251763 single base substitution C T upstream_gene_variant MELA-AU 7 5251987 5251987 single base substitution C T intron_variant MELA-AU 7 5251987 5251987 single base substitution C T upstream_gene_variant MELA-AU 7 5252364 5252364 single base substitution G A intron_variant MELA-AU 7 5252364 5252364 single base substitution G A upstream_gene_variant MELA-AU 7 5252404 5252404 single base substitution C T intron_variant MELA-AU 7 5252404 5252404 single base substitution C T upstream_gene_variant MELA-AU 7 5252868 5252868 single base substitution C T exon_variant MELA-AU 7 5252868 5252868 single base substitution C T intron_variant MELA-AU 7 5252868 5252868 single base substitution C T upstream_gene_variant MELA-AU 7 5253426 5253426 single base substitution C T intron_variant MELA-AU 7 5253426 5253426 single base substitution C T upstream_gene_variant MELA-AU 7 5253616 5253616 single base substitution C T intron_variant MELA-AU 7 5253616 5253616 single base substitution C T upstream_gene_variant MELA-AU 7 5253742 5253742 single base substitution G A intron_variant MELA-AU 7 5253742 5253742 single base substitution G A upstream_gene_variant MELA-AU 7 5254428 5254428 single base substitution C T downstream_gene_variant MELA-AU 7 5254428 5254428 single base substitution C T intron_variant MELA-AU 7 5254428 5254428 single base substitution C T upstream_gene_variant MELA-AU 7 5254465 5254465 single base substitution C T downstream_gene_variant MELA-AU 7 5254465 5254465 single base substitution C T intron_variant MELA-AU 7 5254465 5254465 single base substitution C T upstream_gene_variant MELA-AU 7 5254617 5254617 single base substitution C T downstream_gene_variant MELA-AU 7 5254617 5254617 single base substitution C T intron_variant MELA-AU 7 5254617 5254617 single base substitution C T upstream_gene_variant MELA-AU 7 5254937 5254937 single base substitution C T downstream_gene_variant MELA-AU 7 5254937 5254937 single base substitution C T intron_variant MELA-AU 7 5254937 5254937 single base substitution C T upstream_gene_variant MELA-AU 7 5254970 5254970 single base substitution C T downstream_gene_variant MELA-AU 7 5254970 5254970 single base substitution C T intron_variant MELA-AU 7 5254970 5254970 single base substitution C T upstream_gene_variant MELA-AU 7 5255004 5255004 single base substitution A C downstream_gene_variant MELA-AU 7 5255004 5255004 single base substitution A C intron_variant MELA-AU 7 5255004 5255004 single base substitution A C upstream_gene_variant MELA-AU 7 5255145 5255145 single base substitution A G downstream_gene_variant MELA-AU 7 5255145 5255145 single base substitution A G intron_variant MELA-AU 7 5255145 5255145 single base substitution A G upstream_gene_variant MELA-AU 7 5255402 5255402 single base substitution C T downstream_gene_variant MELA-AU 7 5255402 5255402 single base substitution C T intron_variant MELA-AU 7 5255402 5255402 single base substitution C T upstream_gene_variant MELA-AU 7 5255674 5255674 single base substitution C T downstream_gene_variant MELA-AU 7 5255674 5255674 single base substitution C T intron_variant MELA-AU 7 5255674 5255674 single base substitution C T upstream_gene_variant MELA-AU 7 5255847 5255847 single base substitution G A downstream_gene_variant MELA-AU 7 5255847 5255847 single base substitution G A exon_variant MELA-AU 7 5255847 5255847 single base substitution G A intron_variant MELA-AU 7 5255847 5255847 single base substitution G A upstream_gene_variant MELA-AU 7 5256175 5256175 single base substitution C T downstream_gene_variant MELA-AU 7 5256175 5256175 single base substitution C T intron_variant MELA-AU 7 5256175 5256175 single base substitution C T upstream_gene_variant MELA-AU 7 5256317 5256317 single base substitution C T downstream_gene_variant MELA-AU 7 5256317 5256317 single base substitution C T intron_variant MELA-AU 7 5256565 5256565 single base substitution G C downstream_gene_variant MELA-AU 7 5256565 5256565 single base substitution G C intron_variant MELA-AU 7 5256975 5256975 single base substitution G A downstream_gene_variant MELA-AU 7 5256975 5256975 single base substitution G A exon_variant MELA-AU 7 5256975 5256975 single base substitution G A intron_variant MELA-AU 7 5257177 5257177 single base substitution C T downstream_gene_variant MELA-AU 7 5257177 5257177 single base substitution C T exon_variant MELA-AU 7 5257177 5257177 single base substitution C T intron_variant MELA-AU 7 5257753 5257753 single base substitution C T downstream_gene_variant MELA-AU 7 5257753 5257753 single base substitution C T exon_variant MELA-AU 7 5257753 5257753 single base substitution C T intron_variant MELA-AU 7 5258095 5258095 single base substitution C T downstream_gene_variant MELA-AU 7 5258095 5258095 single base substitution C T exon_variant MELA-AU 7 5258095 5258095 single base substitution C T intron_variant MELA-AU 7 5258246 5258246 single base substitution C T downstream_gene_variant MELA-AU 7 5258246 5258246 single base substitution C T exon_variant MELA-AU 7 5258246 5258246 single base substitution C T intron_variant MELA-AU 7 5258502 5258502 single base substitution C T downstream_gene_variant MELA-AU 7 5258502 5258502 single base substitution C T exon_variant MELA-AU 7 5258502 5258502 single base substitution C T intron_variant MELA-AU 7 5258568 5258568 single base substitution C T downstream_gene_variant MELA-AU 7 5258568 5258568 single base substitution C T exon_variant MELA-AU 7 5258568 5258568 single base substitution C T intron_variant MELA-AU 7 5258591 5258591 single base substitution C T downstream_gene_variant MELA-AU 7 5258591 5258591 single base substitution C T exon_variant MELA-AU 7 5258591 5258591 single base substitution C T intron_variant MELA-AU 7 5258792 5258792 single base substitution C T downstream_gene_variant MELA-AU 7 5258792 5258792 single base substitution C T intron_variant MELA-AU 7 5258857 5258857 single base substitution G A downstream_gene_variant MELA-AU 7 5258857 5258857 single base substitution G A intron_variant MELA-AU 7 5259013 5259013 single base substitution T G downstream_gene_variant MELA-AU 7 5259013 5259013 single base substitution T G intron_variant MELA-AU 7 5259949 5259949 single base substitution C T downstream_gene_variant MELA-AU 7 5259949 5259949 single base substitution C T intron_variant MELA-AU 7 5261413 5261413 single base substitution C T downstream_gene_variant MELA-AU 7 5261413 5261413 single base substitution C T intron_variant MELA-AU 7 5261413 5261413 single base substitution C T upstream_gene_variant MELA-AU 7 5261600 5261600 single base substitution C T downstream_gene_variant MELA-AU 7 5261600 5261600 single base substitution C T intron_variant MELA-AU 7 5261600 5261600 single base substitution C T upstream_gene_variant MELA-AU 7 5261948 5261948 single base substitution C T downstream_gene_variant MELA-AU 7 5261948 5261948 single base substitution C T intron_variant MELA-AU 7 5261948 5261948 single base substitution C T upstream_gene_variant MELA-AU 7 5262372 5262372 single base substitution G T downstream_gene_variant MELA-AU 7 5262372 5262372 single base substitution G T exon_variant MELA-AU 7 5262372 5262372 single base substitution G T intron_variant MELA-AU 7 5262372 5262372 single base substitution G T upstream_gene_variant MELA-AU 7 5262471 5262471 single base substitution G A downstream_gene_variant MELA-AU 7 5262471 5262471 single base substitution G A intron_variant MELA-AU 7 5262471 5262471 single base substitution G A upstream_gene_variant MELA-AU 7 5262573 5262573 single base substitution C T downstream_gene_variant MELA-AU 7 5262573 5262573 single base substitution C T intron_variant MELA-AU 7 5262573 5262573 single base substitution C T upstream_gene_variant MELA-AU 7 5262634 5262634 single base substitution C A downstream_gene_variant MELA-AU 7 5262634 5262634 single base substitution C A intron_variant MELA-AU 7 5262634 5262634 single base substitution C A upstream_gene_variant MELA-AU 7 5262756 5262756 single base substitution C T downstream_gene_variant MELA-AU 7 5262756 5262756 single base substitution C T intron_variant MELA-AU 7 5262756 5262756 single base substitution C T upstream_gene_variant MELA-AU 7 5262756 5262757 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 5262756 5262757 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 5262756 5262757 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 5262823 5262823 single base substitution G A downstream_gene_variant MELA-AU 7 5262823 5262823 single base substitution G A intron_variant MELA-AU 7 5262823 5262823 single base substitution G A upstream_gene_variant MELA-AU 7 5263052 5263052 single base substitution C T downstream_gene_variant MELA-AU 7 5263052 5263052 single base substitution C T intron_variant MELA-AU 7 5263052 5263052 single base substitution C T upstream_gene_variant MELA-AU 7 5263148 5263148 single base substitution T G downstream_gene_variant MELA-AU 7 5263148 5263148 single base substitution T G intron_variant MELA-AU 7 5263148 5263148 single base substitution T G upstream_gene_variant MELA-AU 7 5263248 5263248 single base substitution C T downstream_gene_variant MELA-AU 7 5263248 5263248 single base substitution C T intron_variant MELA-AU 7 5263248 5263248 single base substitution C T upstream_gene_variant MELA-AU 7 5263310 5263310 single base substitution C T downstream_gene_variant MELA-AU 7 5263310 5263310 single base substitution C T intron_variant MELA-AU 7 5263310 5263310 single base substitution C T upstream_gene_variant MELA-AU 7 5263604 5263604 single base substitution C T downstream_gene_variant MELA-AU 7 5263604 5263604 single base substitution C T intron_variant MELA-AU 7 5263604 5263604 single base substitution C T upstream_gene_variant MELA-AU 7 5263861 5263861 single base substitution T G downstream_gene_variant MELA-AU 7 5263861 5263861 single base substitution T G intron_variant MELA-AU 7 5263861 5263861 single base substitution T G upstream_gene_variant MELA-AU 7 5263964 5263964 single base substitution C T downstream_gene_variant MELA-AU 7 5263964 5263964 single base substitution C T intron_variant MELA-AU 7 5263964 5263964 single base substitution C T upstream_gene_variant MELA-AU 7 5264300 5264300 single base substitution C T downstream_gene_variant MELA-AU 7 5264300 5264300 single base substitution C T intron_variant MELA-AU 7 5264300 5264300 single base substitution C T upstream_gene_variant MELA-AU 7 5264501 5264501 single base substitution C T downstream_gene_variant MELA-AU 7 5264501 5264501 single base substitution C T intron_variant MELA-AU 7 5264501 5264501 single base substitution C T upstream_gene_variant MELA-AU 7 5264527 5264527 single base substitution C T downstream_gene_variant MELA-AU 7 5264527 5264527 single base substitution C T intron_variant MELA-AU 7 5264527 5264527 single base substitution C T upstream_gene_variant MELA-AU 7 5264551 5264551 single base substitution C T downstream_gene_variant MELA-AU 7 5264551 5264551 single base substitution C T intron_variant MELA-AU 7 5264551 5264551 single base substitution C T upstream_gene_variant MELA-AU 7 5265225 5265226 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 5265225 5265226 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 5265225 5265226 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 5265429 5265429 single base substitution C T downstream_gene_variant MELA-AU 7 5265429 5265429 single base substitution C T intron_variant MELA-AU 7 5265429 5265429 single base substitution C T upstream_gene_variant MELA-AU 7 5265766 5265766 single base substitution G A downstream_gene_variant MELA-AU 7 5265766 5265766 single base substitution G A exon_variant MELA-AU 7 5265766 5265766 single base substitution G A intron_variant MELA-AU 7 5265766 5265766 single base substitution G A upstream_gene_variant MELA-AU 7 5266180 5266180 single base substitution C T downstream_gene_variant MELA-AU 7 5266180 5266180 single base substitution C T exon_variant MELA-AU 7 5266180 5266180 single base substitution C T intron_variant MELA-AU 7 5266180 5266180 single base substitution C T upstream_gene_variant MELA-AU 7 5266626 5266626 single base substitution C T downstream_gene_variant MELA-AU 7 5266626 5266626 single base substitution C T exon_variant MELA-AU 7 5266626 5266626 single base substitution C T intron_variant MELA-AU 7 5266626 5266626 single base substitution C T upstream_gene_variant MELA-AU 7 5267169 5267169 single base substitution C T downstream_gene_variant MELA-AU 7 5267169 5267169 single base substitution C T intron_variant MELA-AU 7 5267169 5267169 single base substitution C T upstream_gene_variant MELA-AU 7 5267285 5267285 single base substitution C T downstream_gene_variant MELA-AU 7 5267285 5267285 single base substitution C T intron_variant MELA-AU 7 5267285 5267285 single base substitution C T upstream_gene_variant MELA-AU 7 5267691 5267691 single base substitution C T downstream_gene_variant MELA-AU 7 5267691 5267691 single base substitution C T intron_variant MELA-AU 7 5267691 5267691 single base substitution C T upstream_gene_variant MELA-AU 7 5267958 5267958 single base substitution C A downstream_gene_variant MELA-AU 7 5267958 5267958 single base substitution C A intron_variant MELA-AU 7 5267958 5267958 single base substitution C A upstream_gene_variant MELA-AU 7 5268688 5268689 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 5268688 5268689 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 5268688 5268689 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 5268887 5268887 single base substitution C T downstream_gene_variant MELA-AU 7 5268887 5268887 single base substitution C T intron_variant MELA-AU 7 5268887 5268887 single base substitution C T upstream_gene_variant MELA-AU 7 5269597 5269597 single base substitution C T downstream_gene_variant MELA-AU 7 5269597 5269597 single base substitution C T intron_variant MELA-AU 7 5269626 5269626 single base substitution C T downstream_gene_variant MELA-AU 7 5269626 5269626 single base substitution C T intron_variant MELA-AU 7 5271498 5271498 single base substitution C T 3_prime_UTR_variant MELA-AU 7 5271498 5271498 single base substitution C T downstream_gene_variant MELA-AU 7 5271719 5271719 single base substitution C T 3_prime_UTR_variant MELA-AU 7 5271719 5271719 single base substitution C T downstream_gene_variant MELA-AU 7 5271847 5271847 single base substitution C T 3_prime_UTR_variant MELA-AU 7 5271847 5271847 single base substitution C T downstream_gene_variant MELA-AU 7 5271951 5271951 single base substitution C T 3_prime_UTR_variant MELA-AU 7 5271951 5271951 single base substitution C T downstream_gene_variant MELA-AU 7 5272756 5272756 single base substitution C T 3_prime_UTR_variant MELA-AU 7 5272756 5272756 single base substitution C T downstream_gene_variant MELA-AU 7 5272859 5272859 single base substitution C T 3_prime_UTR_variant MELA-AU 7 5272859 5272859 single base substitution C T downstream_gene_variant MELA-AU 7 5273599 5273599 single base substitution C T downstream_gene_variant MELA-AU 7 5273613 5273613 single base substitution C T downstream_gene_variant MELA-AU 7 5273997 5273997 single base substitution C T downstream_gene_variant MELA-AU 7 5274354 5274354 single base substitution C T downstream_gene_variant MELA-AU 7 5274538 5274538 single base substitution C T downstream_gene_variant MELA-AU 7 5275518 5275518 single base substitution C T downstream_gene_variant MELA-AU 7 5275701 5275701 single base substitution A T downstream_gene_variant MELA-AU 7 5275761 5275761 single base substitution C T downstream_gene_variant MELA-AU 7 5275865 5275865 single base substitution G C downstream_gene_variant MELA-AU 7 5276377 5276377 single base substitution T C downstream_gene_variant MELA-AU 7 5276394 5276394 single base substitution G A downstream_gene_variant MELA-AU 7 5276399 5276399 single base substitution C T downstream_gene_variant MELA-AU 7 5276578 5276578 single base substitution G A downstream_gene_variant MELA-AU 7 5276602 5276602 single base substitution C T downstream_gene_variant MELA-AU 7 5276746 5276746 single base substitution G A downstream_gene_variant MELA-AU 7 5276804 5276804 single base substitution G A downstream_gene_variant MELA-AU 7 5276927 5276927 single base substitution G A downstream_gene_variant MELA-AU 7 5277328 5277328 single base substitution C T downstream_gene_variant MELA-AU 7 5277408 5277408 single base substitution T A downstream_gene_variant MELA-AU 7 5277803 5277803 single base substitution C T downstream_gene_variant MELA-AU 7 5277895 5277896 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 5278110 5278110 single base substitution C T downstream_gene_variant MELA-AU 7 5278138 5278138 single base substitution G A downstream_gene_variant MELA-AU 7 5278146 5278146 single base substitution G A downstream_gene_variant MELA-AU 7 5278169 5278169 single base substitution C T downstream_gene_variant ORCA-IN 7 5241364 5241364 single base substitution G C intron_variant OV-AU 7 5226487 5226487 single base substitution G C upstream_gene_variant OV-AU 7 5238942 5238942 single base substitution G T intron_variant OV-AU 7 5240039 5240039 single base substitution A G intron_variant OV-AU 7 5244208 5244208 single base substitution G T intron_variant OV-AU 7 5246396 5246396 single base substitution T A intron_variant OV-AU 7 5253160 5253160 single base substitution A C intron_variant OV-AU 7 5253160 5253160 single base substitution A C upstream_gene_variant OV-AU 7 5256923 5256923 single base substitution G A downstream_gene_variant OV-AU 7 5256923 5256923 single base substitution G A exon_variant OV-AU 7 5256923 5256923 single base substitution G A intron_variant OV-AU 7 5261999 5261999 single base substitution G C downstream_gene_variant OV-AU 7 5261999 5261999 single base substitution G C intron_variant OV-AU 7 5261999 5261999 single base substitution G C upstream_gene_variant OV-AU 7 5262356 5262356 single base substitution G T downstream_gene_variant OV-AU 7 5262356 5262356 single base substitution G T exon_variant OV-AU 7 5262356 5262356 single base substitution G T intron_variant OV-AU 7 5262356 5262356 single base substitution G T upstream_gene_variant OV-AU 7 5265513 5265513 single base substitution G C downstream_gene_variant OV-AU 7 5265513 5265513 single base substitution G C exon_variant OV-AU 7 5265513 5265513 single base substitution G C missense_variant S208T 623G>C OV-AU 7 5265513 5265513 single base substitution G C missense_variant S249T 746G>C OV-AU 7 5265513 5265513 single base substitution G C missense_variant S267T 800G>C OV-AU 7 5265513 5265513 single base substitution G C upstream_gene_variant OV-AU 7 5266477 5266477 single base substitution T C downstream_gene_variant OV-AU 7 5266477 5266477 single base substitution T C exon_variant OV-AU 7 5266477 5266477 single base substitution T C intron_variant OV-AU 7 5266477 5266477 single base substitution T C upstream_gene_variant OV-AU 7 5271544 5271544 single base substitution G C 3_prime_UTR_variant OV-AU 7 5271544 5271544 single base substitution G C downstream_gene_variant OV-AU 7 5272281 5272281 single base substitution C T 3_prime_UTR_variant OV-AU 7 5272281 5272281 single base substitution C T downstream_gene_variant OV-AU 7 5273267 5273267 single base substitution G A 3_prime_UTR_variant OV-AU 7 5273267 5273267 single base substitution G A downstream_gene_variant OV-AU 7 5275921 5275921 single base substitution G C downstream_gene_variant PACA-AU 7 5226459 5226459 single base substitution A G upstream_gene_variant PACA-AU 7 5229741 5229741 single base substitution C T upstream_gene_variant PACA-AU 7 5235033 5235033 single base substitution C T intron_variant PACA-AU 7 5237511 5237511 single base substitution C T intron_variant PACA-AU 7 5240072 5240072 single base substitution C T intron_variant PACA-AU 7 5243166 5243166 single base substitution G A intron_variant PACA-AU 7 5243698 5243698 single base substitution C T intron_variant PACA-AU 7 5248263 5248263 deletion of <=200bp T - intron_variant PACA-AU 7 5249494 5249494 single base substitution C T intron_variant PACA-AU 7 5249494 5249494 single base substitution C T upstream_gene_variant PACA-AU 7 5252225 5252225 single base substitution C T intron_variant PACA-AU 7 5252225 5252225 single base substitution C T upstream_gene_variant PACA-AU 7 5255833 5255833 single base substitution G T downstream_gene_variant PACA-AU 7 5255833 5255833 single base substitution G T exon_variant PACA-AU 7 5255833 5255833 single base substitution G T intron_variant PACA-AU 7 5255833 5255833 single base substitution G T upstream_gene_variant PACA-AU 7 5265642 5265642 single base substitution G A downstream_gene_variant PACA-AU 7 5265642 5265642 single base substitution G A exon_variant PACA-AU 7 5265642 5265642 single base substitution G A intron_variant PACA-AU 7 5265642 5265642 single base substitution G A upstream_gene_variant PACA-AU 7 5267599 5267599 single base substitution C T downstream_gene_variant PACA-AU 7 5267599 5267599 single base substitution C T intron_variant PACA-AU 7 5267599 5267599 single base substitution C T upstream_gene_variant PACA-AU 7 5273096 5273096 single base substitution G A 3_prime_UTR_variant PACA-AU 7 5273096 5273096 single base substitution G A downstream_gene_variant PACA-CA 7 5227303 5227303 single base substitution C T upstream_gene_variant PACA-CA 7 5227479 5227479 single base substitution C T upstream_gene_variant PACA-CA 7 5227521 5227521 single base substitution T C upstream_gene_variant PACA-CA 7 5228761 5228761 single base substitution A T upstream_gene_variant PACA-CA 7 5229783 5229783 single base substitution G A upstream_gene_variant PACA-CA 7 5230724 5230724 single base substitution C T intron_variant PACA-CA 7 5232224 5232224 single base substitution G C intron_variant PACA-CA 7 5234585 5234585 single base substitution C T intron_variant PACA-CA 7 5238484 5238484 single base substitution C A intron_variant PACA-CA 7 5238644 5238644 single base substitution A G intron_variant PACA-CA 7 5238902 5238902 single base substitution G T intron_variant PACA-CA 7 5245221 5245221 single base substitution C T intron_variant PACA-CA 7 5245454 5245454 single base substitution A G intron_variant PACA-CA 7 5247577 5247577 single base substitution G A intron_variant PACA-CA 7 5250827 5250827 single base substitution G A intron_variant PACA-CA 7 5250827 5250827 single base substitution G A upstream_gene_variant PACA-CA 7 5251979 5251979 single base substitution C T intron_variant PACA-CA 7 5251979 5251979 single base substitution C T upstream_gene_variant PACA-CA 7 5252732 5252732 single base substitution C T intron_variant PACA-CA 7 5252732 5252732 single base substitution C T upstream_gene_variant PACA-CA 7 5254008 5254008 single base substitution C A 5_prime_UTR_variant PACA-CA 7 5254008 5254008 single base substitution C A exon_variant PACA-CA 7 5254008 5254008 single base substitution C A intron_variant PACA-CA 7 5254008 5254008 single base substitution C A upstream_gene_variant PACA-CA 7 5258165 5258165 single base substitution G A downstream_gene_variant PACA-CA 7 5258165 5258165 single base substitution G A exon_variant PACA-CA 7 5258165 5258165 single base substitution G A intron_variant PACA-CA 7 5258215 5258215 single base substitution C T downstream_gene_variant PACA-CA 7 5258215 5258215 single base substitution C T exon_variant PACA-CA 7 5258215 5258215 single base substitution C T intron_variant PACA-CA 7 5258623 5258623 single base substitution G A downstream_gene_variant PACA-CA 7 5258623 5258623 single base substitution G A exon_variant PACA-CA 7 5258623 5258623 single base substitution G A intron_variant PACA-CA 7 5265654 5265654 single base substitution C G downstream_gene_variant PACA-CA 7 5265654 5265654 single base substitution C G exon_variant PACA-CA 7 5265654 5265654 single base substitution C G intron_variant PACA-CA 7 5265654 5265654 single base substitution C G upstream_gene_variant PACA-CA 7 5269344 5269344 single base substitution C T downstream_gene_variant PACA-CA 7 5269344 5269344 single base substitution C T exon_variant PACA-CA 7 5269344 5269344 single base substitution C T splice_region_variant PACA-CA 7 5269344 5269344 single base substitution C T synonymous_variant Y391Y 1173C>T PACA-CA 7 5269344 5269344 single base substitution C T synonymous_variant Y409Y 1227C>T PACA-CA 7 5269770 5269770 single base substitution C A downstream_gene_variant PACA-CA 7 5269770 5269770 single base substitution C A intron_variant PACA-CA 7 5270341 5270341 single base substitution G A downstream_gene_variant PACA-CA 7 5270341 5270341 single base substitution G A intron_variant PACA-CA 7 5271656 5271656 single base substitution G A 3_prime_UTR_variant PACA-CA 7 5271656 5271656 single base substitution G A downstream_gene_variant PACA-CA 7 5271846 5271846 single base substitution A G 3_prime_UTR_variant PACA-CA 7 5271846 5271846 single base substitution A G downstream_gene_variant PACA-CA 7 5272936 5272936 single base substitution A C 3_prime_UTR_variant PACA-CA 7 5272936 5272936 single base substitution A C downstream_gene_variant PACA-CA 7 5273129 5273129 single base substitution G A 3_prime_UTR_variant PACA-CA 7 5273129 5273129 single base substitution G A downstream_gene_variant PACA-CA 7 5273760 5273760 single base substitution G A downstream_gene_variant PACA-CA 7 5277998 5277998 single base substitution G A downstream_gene_variant PAEN-AU 7 5227788 5227788 single base substitution G T upstream_gene_variant PAEN-AU 7 5230737 5230737 single base substitution G A intron_variant PAEN-AU 7 5264824 5264824 single base substitution T G downstream_gene_variant PAEN-AU 7 5264824 5264824 single base substitution T G intron_variant PAEN-AU 7 5264824 5264824 single base substitution T G upstream_gene_variant PAEN-AU 7 5269295 5269295 single base substitution G T downstream_gene_variant PAEN-AU 7 5269295 5269295 single base substitution G T exon_variant PAEN-AU 7 5269295 5269295 single base substitution G T missense_variant C334F 1001G>T PAEN-AU 7 5269295 5269295 single base substitution G T missense_variant C375F 1124G>T PAEN-AU 7 5269295 5269295 single base substitution G T missense_variant C393F 1178G>T PBCA-DE 7 5226955 5226955 deletion of <=200bp A - upstream_gene_variant PBCA-DE 7 5226958 5226958 insertion of <=200bp - G upstream_gene_variant PBCA-DE 7 5227050 5227050 single base substitution G A upstream_gene_variant PBCA-DE 7 5227982 5227995 deletion of <=200bp AAAAAAAAAAATAT - upstream_gene_variant PBCA-DE 7 5229030 5229030 single base substitution C T upstream_gene_variant PBCA-DE 7 5235208 5235208 single base substitution A G intron_variant PBCA-DE 7 5237304 5237304 single base substitution G A intron_variant PBCA-DE 7 5243475 5243475 single base substitution C T intron_variant PBCA-DE 7 5244615 5244615 insertion of <=200bp - T intron_variant PBCA-DE 7 5246365 5246366 deletion of <=200bp AC - intron_variant PBCA-DE 7 5258848 5258848 single base substitution G A downstream_gene_variant PBCA-DE 7 5258848 5258848 single base substitution G A intron_variant PBCA-DE 7 5258942 5258942 single base substitution C T downstream_gene_variant PBCA-DE 7 5258942 5258942 single base substitution C T intron_variant PBCA-DE 7 5262151 5262151 single base substitution C T downstream_gene_variant PBCA-DE 7 5262151 5262151 single base substitution C T intron_variant PBCA-DE 7 5262151 5262151 single base substitution C T upstream_gene_variant PBCA-DE 7 5266299 5266299 single base substitution A G downstream_gene_variant PBCA-DE 7 5266299 5266299 single base substitution A G exon_variant PBCA-DE 7 5266299 5266299 single base substitution A G intron_variant PBCA-DE 7 5266299 5266299 single base substitution A G upstream_gene_variant PBCA-DE 7 5267305 5267305 single base substitution C T downstream_gene_variant PBCA-DE 7 5267305 5267305 single base substitution C T intron_variant PBCA-DE 7 5267305 5267305 single base substitution C T upstream_gene_variant PBCA-DE 7 5273845 5273845 deletion of <=200bp A - downstream_gene_variant PRAD-CA 7 5254876 5254876 single base substitution A C downstream_gene_variant PRAD-CA 7 5254876 5254876 single base substitution A C intron_variant PRAD-CA 7 5254876 5254876 single base substitution A C upstream_gene_variant PRAD-UK 7 5231566 5231566 deletion of <=200bp T - intron_variant PRAD-UK 7 5239106 5239106 single base substitution G A intron_variant PRAD-UK 7 5239742 5239742 single base substitution G A intron_variant PRAD-UK 7 5245741 5245741 single base substitution A G intron_variant PRAD-UK 7 5246719 5246719 single base substitution G T intron_variant PRAD-UK 7 5258000 5258000 single base substitution G C downstream_gene_variant PRAD-UK 7 5258000 5258000 single base substitution G C exon_variant PRAD-UK 7 5258000 5258000 single base substitution G C intron_variant PRAD-UK 7 5276330 5276330 single base substitution C T downstream_gene_variant READ-US 7 5262244 5262244 insertion of <=200bp - A downstream_gene_variant READ-US 7 5262244 5262244 insertion of <=200bp - A exon_variant READ-US 7 5262244 5262244 insertion of <=200bp - A frameshift_variant I168I? READ-US 7 5262244 5262244 insertion of <=200bp - A frameshift_variant I209I? READ-US 7 5262244 5262244 insertion of <=200bp - A frameshift_variant I227I? READ-US 7 5262244 5262244 insertion of <=200bp - A upstream_gene_variant RECA-EU 7 5225456 5225456 single base substitution T C upstream_gene_variant RECA-EU 7 5228335 5228335 single base substitution C T upstream_gene_variant RECA-EU 7 5232399 5232399 single base substitution A G intron_variant RECA-EU 7 5238911 5238911 single base substitution A G intron_variant RECA-EU 7 5246581 5246581 single base substitution C A intron_variant RECA-EU 7 5249858 5249858 single base substitution G T intron_variant RECA-EU 7 5249858 5249858 single base substitution G T upstream_gene_variant RECA-EU 7 5255935 5255935 single base substitution C T downstream_gene_variant RECA-EU 7 5255935 5255935 single base substitution C T intron_variant RECA-EU 7 5255935 5255935 single base substitution C T upstream_gene_variant RECA-EU 7 5257838 5257838 single base substitution G C downstream_gene_variant RECA-EU 7 5257838 5257838 single base substitution G C exon_variant RECA-EU 7 5257838 5257838 single base substitution G C intron_variant RECA-EU 7 5262434 5262434 single base substitution C T downstream_gene_variant RECA-EU 7 5262434 5262434 single base substitution C T exon_variant RECA-EU 7 5262434 5262434 single base substitution C T intron_variant RECA-EU 7 5262434 5262434 single base substitution C T upstream_gene_variant RECA-EU 7 5273831 5273831 single base substitution C T downstream_gene_variant RECA-EU 7 5274509 5274509 single base substitution G A downstream_gene_variant SKCA-BR 7 5225788 5225788 single base substitution C T upstream_gene_variant SKCA-BR 7 5226345 5226348 deletion of <=200bp ATAT - upstream_gene_variant SKCA-BR 7 5227987 5227987 single base substitution A T upstream_gene_variant SKCA-BR 7 5227989 5227993 deletion of <=200bp AAAAT - upstream_gene_variant SKCA-BR 7 5228856 5228856 single base substitution T A upstream_gene_variant SKCA-BR 7 5232563 5232563 single base substitution C T intron_variant SKCA-BR 7 5233534 5233534 single base substitution C T intron_variant SKCA-BR 7 5234822 5234822 single base substitution G A intron_variant SKCA-BR 7 5235020 5235020 single base substitution G C intron_variant SKCA-BR 7 5236698 5236698 single base substitution G A intron_variant SKCA-BR 7 5236742 5236750 deletion of <=200bp CAAAAAACA - intron_variant SKCA-BR 7 5240317 5240317 single base substitution T C intron_variant SKCA-BR 7 5241632 5241632 single base substitution G A intron_variant SKCA-BR 7 5245382 5245382 single base substitution A C intron_variant SKCA-BR 7 5246032 5246032 single base substitution G A intron_variant SKCA-BR 7 5247620 5247620 single base substitution C T intron_variant SKCA-BR 7 5248644 5248646 deletion of <=200bp ATT - intron_variant SKCA-BR 7 5258044 5258044 single base substitution C T downstream_gene_variant SKCA-BR 7 5258044 5258044 single base substitution C T exon_variant SKCA-BR 7 5258044 5258044 single base substitution C T intron_variant SKCA-BR 7 5258502 5258502 single base substitution C T downstream_gene_variant SKCA-BR 7 5258502 5258502 single base substitution C T exon_variant SKCA-BR 7 5258502 5258502 single base substitution C T intron_variant SKCA-BR 7 5258610 5258610 single base substitution C T downstream_gene_variant SKCA-BR 7 5258610 5258610 single base substitution C T exon_variant SKCA-BR 7 5258610 5258610 single base substitution C T intron_variant SKCA-BR 7 5260591 5260591 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 7 5260591 5260591 insertion of <=200bp - AT intron_variant SKCA-BR 7 5260591 5260591 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 7 5261594 5261597 deletion of <=200bp TTTC - downstream_gene_variant SKCA-BR 7 5261594 5261597 deletion of <=200bp TTTC - intron_variant SKCA-BR 7 5261594 5261597 deletion of <=200bp TTTC - upstream_gene_variant SKCA-BR 7 5261622 5261622 single base substitution C T downstream_gene_variant SKCA-BR 7 5261622 5261622 single base substitution C T intron_variant SKCA-BR 7 5261622 5261622 single base substitution C T upstream_gene_variant SKCA-BR 7 5263869 5263869 single base substitution C T downstream_gene_variant SKCA-BR 7 5263869 5263869 single base substitution C T intron_variant SKCA-BR 7 5263869 5263869 single base substitution C T upstream_gene_variant SKCA-BR 7 5264427 5264427 single base substitution C T downstream_gene_variant SKCA-BR 7 5264427 5264427 single base substitution C T intron_variant SKCA-BR 7 5264427 5264427 single base substitution C T upstream_gene_variant SKCA-BR 7 5264671 5264672 deletion of <=200bp GT - downstream_gene_variant SKCA-BR 7 5264671 5264672 deletion of <=200bp GT - intron_variant SKCA-BR 7 5264671 5264672 deletion of <=200bp GT - upstream_gene_variant SKCA-BR 7 5265398 5265398 single base substitution A C downstream_gene_variant SKCA-BR 7 5265398 5265398 single base substitution A C intron_variant SKCA-BR 7 5265398 5265398 single base substitution A C upstream_gene_variant SKCA-BR 7 5266180 5266180 single base substitution C T downstream_gene_variant SKCA-BR 7 5266180 5266180 single base substitution C T exon_variant SKCA-BR 7 5266180 5266180 single base substitution C T intron_variant SKCA-BR 7 5266180 5266180 single base substitution C T upstream_gene_variant SKCA-BR 7 5266398 5266398 single base substitution A C downstream_gene_variant SKCA-BR 7 5266398 5266398 single base substitution A C exon_variant SKCA-BR 7 5266398 5266398 single base substitution A C intron_variant SKCA-BR 7 5266398 5266398 single base substitution A C upstream_gene_variant SKCA-BR 7 5268106 5268106 single base substitution A G downstream_gene_variant SKCA-BR 7 5268106 5268106 single base substitution A G intron_variant SKCA-BR 7 5268106 5268106 single base substitution A G upstream_gene_variant SKCA-BR 7 5275590 5275590 single base substitution C T downstream_gene_variant SKCA-BR 7 5275600 5275600 single base substitution C T downstream_gene_variant SKCA-BR 7 5275696 5275696 single base substitution A T downstream_gene_variant SKCA-BR 7 5275732 5275732 single base substitution G A downstream_gene_variant SKCA-BR 7 5275737 5275737 single base substitution T G downstream_gene_variant SKCA-BR 7 5278307 5278307 single base substitution A G downstream_gene_variant SKCM-US 7 5254224 5254224 single base substitution C T exon_variant SKCM-US 7 5254224 5254224 single base substitution C T synonymous_variant I31I 93C>T SKCM-US 7 5254224 5254224 single base substitution C T synonymous_variant I72I 216C>T SKCM-US 7 5254224 5254224 single base substitution C T synonymous_variant I90I 270C>T SKCM-US 7 5254224 5254224 single base substitution C T upstream_gene_variant SKCM-US 7 5256236 5256236 single base substitution A G downstream_gene_variant SKCM-US 7 5256236 5256236 single base substitution A G exon_variant SKCM-US 7 5256236 5256236 single base substitution A G missense_variant I124V 370A>G SKCM-US 7 5256236 5256236 single base substitution A G missense_variant I142V 424A>G SKCM-US 7 5256236 5256236 single base substitution A G missense_variant I83V 247A>G SKCM-US 7 5262246 5262246 single base substitution G A downstream_gene_variant SKCM-US 7 5262246 5262246 single base substitution G A exon_variant SKCM-US 7 5262246 5262246 single base substitution G A missense_variant R169K 506G>A SKCM-US 7 5262246 5262246 single base substitution G A missense_variant R210K 629G>A SKCM-US 7 5262246 5262246 single base substitution G A missense_variant R228K 683G>A SKCM-US 7 5262246 5262246 single base substitution G A upstream_gene_variant SKCM-US 7 5269331 5269331 single base substitution G A downstream_gene_variant SKCM-US 7 5269331 5269331 single base substitution G A exon_variant SKCM-US 7 5269331 5269331 single base substitution G A missense_variant G346E 1037G>A SKCM-US 7 5269331 5269331 single base substitution G A missense_variant G387E 1160G>A SKCM-US 7 5269331 5269331 single base substitution G A missense_variant G405E 1214G>A SKCM-US 7 5269352 5269352 single base substitution C T downstream_gene_variant SKCM-US 7 5269352 5269352 single base substitution C T exon_variant SKCM-US 7 5269352 5269352 single base substitution C T intron_variant SKCM-US 7 5269352 5269352 single base substitution C T missense_variant S394L 1181C>T SKCM-US 7 5269352 5269352 single base substitution C T missense_variant S412L 1235C>T SKCM-US 7 5270477 5270477 single base substitution G C downstream_gene_variant SKCM-US 7 5270477 5270477 single base substitution G C exon_variant SKCM-US 7 5270477 5270477 single base substitution G C missense_variant D352H 1054G>C SKCM-US 7 5270477 5270477 single base substitution G C missense_variant D393H 1177G>C SKCM-US 7 5270477 5270477 single base substitution G C missense_variant D404H 1210G>C SKCM-US 7 5270477 5270477 single base substitution G C missense_variant D411H 1231G>C SKCM-US 7 5270477 5270477 single base substitution G C missense_variant D422H 1264G>C STAD-US 7 5232779 5232779 single base substitution T A exon_variant STAD-US 7 5232779 5232779 single base substitution T A intron_variant STAD-US 7 5232779 5232779 single base substitution T A synonymous_variant G35G 105T>A STAD-US 7 5254322 5254322 single base substitution A C exon_variant STAD-US 7 5254322 5254322 single base substitution A C missense_variant K105T 314A>C STAD-US 7 5254322 5254322 single base substitution A C missense_variant K123T 368A>C STAD-US 7 5254322 5254322 single base substitution A C missense_variant K64T 191A>C STAD-US 7 5254322 5254322 single base substitution A C upstream_gene_variant STAD-US 7 5256764 5256764 single base substitution G A downstream_gene_variant STAD-US 7 5256764 5256764 single base substitution G A exon_variant STAD-US 7 5256764 5256764 single base substitution G A synonymous_variant A115A 345G>A STAD-US 7 5256764 5256764 single base substitution G A synonymous_variant A156A 468G>A STAD-US 7 5256764 5256764 single base substitution G A synonymous_variant A174A 522G>A STAD-US 7 5257644 5257644 single base substitution A C downstream_gene_variant STAD-US 7 5257644 5257644 single base substitution A C exon_variant STAD-US 7 5257644 5257644 single base substitution A C missense_variant K164T 491A>C STAD-US 7 5257644 5257644 single base substitution A C missense_variant K205T 614A>C STAD-US 7 5257644 5257644 single base substitution A C missense_variant K223T 668A>C STAD-US 7 5257644 5257644 single base substitution A C splice_region_variant STAD-US 7 5265492 5265492 single base substitution G A downstream_gene_variant STAD-US 7 5265492 5265492 single base substitution G A exon_variant STAD-US 7 5265492 5265492 single base substitution G A missense_variant G201D 602G>A STAD-US 7 5265492 5265492 single base substitution G A missense_variant G242D 725G>A STAD-US 7 5265492 5265492 single base substitution G A missense_variant G260D 779G>A STAD-US 7 5265492 5265492 single base substitution G A upstream_gene_variant STAD-US 7 5266847 5266847 single base substitution C T downstream_gene_variant STAD-US 7 5266847 5266847 single base substitution C T exon_variant STAD-US 7 5266847 5266847 single base substitution C T synonymous_variant F236F 708C>T STAD-US 7 5266847 5266847 single base substitution C T synonymous_variant F277F 831C>T STAD-US 7 5266847 5266847 single base substitution C T synonymous_variant F295F 885C>T STAD-US 7 5266847 5266847 single base substitution C T upstream_gene_variant STAD-US 7 5266905 5266905 single base substitution A G downstream_gene_variant STAD-US 7 5266905 5266905 single base substitution A G exon_variant STAD-US 7 5266905 5266905 single base substitution A G missense_variant N256D 766A>G STAD-US 7 5266905 5266905 single base substitution A G missense_variant N297D 889A>G STAD-US 7 5266905 5266905 single base substitution A G missense_variant N315D 943A>G STAD-US 7 5266905 5266905 single base substitution A G upstream_gene_variant STAD-US 7 5267771 5267771 single base substitution C T downstream_gene_variant STAD-US 7 5267771 5267771 single base substitution C T exon_variant STAD-US 7 5267771 5267771 single base substitution C T synonymous_variant A291A 873C>T STAD-US 7 5267771 5267771 single base substitution C T synonymous_variant A332A 996C>T STAD-US 7 5267771 5267771 single base substitution C T synonymous_variant A350A 1050C>T STAD-US 7 5267771 5267771 single base substitution C T upstream_gene_variant STAD-US 7 5267842 5267842 single base substitution G A downstream_gene_variant STAD-US 7 5267842 5267842 single base substitution G A missense_variant R315Q 944G>A STAD-US 7 5267842 5267842 single base substitution G A missense_variant R356Q 1067G>A STAD-US 7 5267842 5267842 single base substitution G A missense_variant R374Q 1121G>A STAD-US 7 5267842 5267842 single base substitution G A splice_region_variant STAD-US 7 5267842 5267842 single base substitution G A upstream_gene_variant STAD-US 7 5269339 5269339 single base substitution A G downstream_gene_variant STAD-US 7 5269339 5269339 single base substitution A G exon_variant STAD-US 7 5269339 5269339 single base substitution A G missense_variant T390A 1168A>G STAD-US 7 5269339 5269339 single base substitution A G missense_variant T408A 1222A>G STAD-US 7 5269339 5269339 single base substitution A G splice_region_variant STAD-US 7 5270512 5270512 single base substitution C T downstream_gene_variant STAD-US 7 5270512 5270512 single base substitution C T exon_variant STAD-US 7 5270512 5270512 single base substitution C T synonymous_variant D363D 1089C>T STAD-US 7 5270512 5270512 single base substitution C T synonymous_variant D404D 1212C>T STAD-US 7 5270512 5270512 single base substitution C T synonymous_variant D415D 1245C>T STAD-US 7 5270512 5270512 single base substitution C T synonymous_variant D422D 1266C>T STAD-US 7 5270512 5270512 single base substitution C T synonymous_variant D433D 1299C>T THCA-SA 7 5273074 5273074 single base substitution C T 3_prime_UTR_variant THCA-SA 7 5273074 5273074 single base substitution C T downstream_gene_variant UCEC-US 7 5253988 5253988 single base substitution G A 5_prime_UTR_variant UCEC-US 7 5253988 5253988 single base substitution G A exon_variant UCEC-US 7 5253988 5253988 single base substitution G A intron_variant UCEC-US 7 5253988 5253988 single base substitution G A upstream_gene_variant UCEC-US 7 5256273 5256273 single base substitution C T downstream_gene_variant UCEC-US 7 5256273 5256273 single base substitution C T exon_variant UCEC-US 7 5256273 5256273 single base substitution C T missense_variant T136M 407C>T UCEC-US 7 5256273 5256273 single base substitution C T missense_variant T154M 461C>T UCEC-US 7 5256273 5256273 single base substitution C T missense_variant T95M 284C>T UCEC-US 7 5256785 5256785 single base substitution C T downstream_gene_variant UCEC-US 7 5256785 5256785 single base substitution C T exon_variant UCEC-US 7 5256785 5256785 single base substitution C T synonymous_variant I122I 366C>T UCEC-US 7 5256785 5256785 single base substitution C T synonymous_variant I163I 489C>T UCEC-US 7 5256785 5256785 single base substitution C T synonymous_variant I181I 543C>T UCEC-US 7 5256816 5256816 single base substitution T C downstream_gene_variant UCEC-US 7 5256816 5256816 single base substitution T C exon_variant UCEC-US 7 5256816 5256816 single base substitution T C splice_region_variant UCEC-US 7 5257572 5257572 single base substitution C T downstream_gene_variant UCEC-US 7 5257572 5257572 single base substitution C T exon_variant UCEC-US 7 5257572 5257572 single base substitution C T missense_variant P140L 419C>T UCEC-US 7 5257572 5257572 single base substitution C T missense_variant P181L 542C>T UCEC-US 7 5257572 5257572 single base substitution C T missense_variant P199L 596C>T UCEC-US 7 5257638 5257638 single base substitution C T downstream_gene_variant UCEC-US 7 5257638 5257638 single base substitution C T exon_variant UCEC-US 7 5257638 5257638 single base substitution C T missense_variant S162L 485C>T UCEC-US 7 5257638 5257638 single base substitution C T missense_variant S203L 608C>T UCEC-US 7 5257638 5257638 single base substitution C T missense_variant S221L 662C>T UCEC-US 7 5266963 5266963 single base substitution G A downstream_gene_variant UCEC-US 7 5266963 5266963 single base substitution G A exon_variant UCEC-US 7 5266963 5266963 single base substitution G A missense_variant C275Y 824G>A UCEC-US 7 5266963 5266963 single base substitution G A missense_variant C316Y 947G>A UCEC-US 7 5266963 5266963 single base substitution G A missense_variant C334Y 1001G>A UCEC-US 7 5266963 5266963 single base substitution G A upstream_gene_variant UCEC-US 7 5270528 5270528 single base substitution C T downstream_gene_variant UCEC-US 7 5270528 5270528 single base substitution C T exon_variant UCEC-US 7 5270528 5270528 single base substitution C T missense_variant R369C 1105C>T UCEC-US 7 5270528 5270528 single base substitution C T missense_variant R410C 1228C>T UCEC-US 7 5270528 5270528 single base substitution C T missense_variant R421C 1261C>T UCEC-US 7 5270528 5270528 single base substitution C T missense_variant R428C 1282C>T UCEC-US 7 5270528 5270528 single base substitution C T missense_variant R439C 1315C>T UCEC-US 7 5270545 5270545 single base substitution C T downstream_gene_variant UCEC-US 7 5270545 5270545 single base substitution C T exon_variant UCEC-US 7 5270545 5270545 single base substitution C T synonymous_variant S374S 1122C>T UCEC-US 7 5270545 5270545 single base substitution C T synonymous_variant S415S 1245C>T UCEC-US 7 5270545 5270545 single base substitution C T synonymous_variant S426S 1278C>T UCEC-US 7 5270545 5270545 single base substitution C T synonymous_variant S433S 1299C>T UCEC-US 7 5270545 5270545 single base substitution C T synonymous_variant S444S 1332C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand V-PH-18T COSM4770444 c.946C>T p.Q316* Substitution - Nonsense 7:5227277-5227277 + TCGA-AX-A05Z-01 COSM1090714 c.662C>T p.S221L Substitution - Missense 7:5218007-5218007 + TCGA-CG-5721-01 COSM3881710 c.1222A>G p.T408A Substitution - Missense 7:5229708-5229708 + V-PH-36T COSM4770568 c.568A>G p.I190V Substitution - Missense 7:5217179-5217179 + TCGA-18-3416-01 COSM746548 c.724C>A p.R242R Substitution - coding silent 7:5222656-5222656 + TCGA-F4-6856-01 COSM1451400 c.488C>T p.A163V Substitution - Missense 7:5217099-5217099 + 46M COSM5589363 c.37G>T p.G13C Substitution - Missense 7:5190456-5190456 + AOCS-145-1-6 COSM4164395 c.800G>C p.S267T Substitution - Missense 7:5225882-5225882 + 1238_T COSM3950618 c.504C>T p.N168N Substitution - coding silent 7:5217115-5217115 + TCGA-EE-A2MP-06 COSM3639608 c.424A>G p.I142V Substitution - Missense 7:5216605-5216605 + PT27 COSM5905738 c.669+7C>T p.? Unknown 7:5218021-5218021 + TCGA-HU-A4GN-01 COSM3881705 c.668A>C p.K223T Substitution - Missense 7:5218013-5218013 + sysucc-1163T COSM5459315 c.1203C>T p.G401G Substitution - coding silent 7:5229689-5229689 + TCGA-AP-A059-01 COSM1090715 c.1001G>A p.C334Y Substitution - Missense 7:5227332-5227332 + TCGA-GN-A263-01 COSM3639610 c.1214G>A p.G405E Substitution - Missense 7:5229700-5229700 + DLD1 COSM3265917 c.1243A>G p.T415A Substitution - Missense 7:5229729-5229729 + BD124T COSM5492190 c.1300G>A p.E434K Substitution - Missense 7:5230882-5230882 + TCGA-A6-5666-01 COSM1451402 c.544G>A p.G182R Substitution - Missense 7:5217155-5217155 + CSCC-20-T COSM4525337 c.1324G>A p.E442K Substitution - Missense 7:5230906-5230906 + TCGA-BS-A0UV-01 COSM1090712 c.574T>C p.L192L Substitution - coding silent 7:5217185-5217185 + TCGA-B8-4622-01 COSM485449 c.1174G>A p.D392N Substitution - Missense 7:5229660-5229660 + TCGA-D5-6928-01 COSM3698467 c.885C>T p.F295F Substitution - coding silent 7:5227216-5227216 + BCM325T COSM1451402 c.544G>A p.G182R Substitution - Missense 7:5217155-5217155 + TCGA-EK-A2RC-01 COSM4848448 c.212-8G>C p.? Unknown 7:5214527-5214527 + CSCC-44-T COSM4569515 c.180T>G p.S60S Substitution - coding silent 7:5199627-5199627 + CSCC-38-T COSM4505621 c.697C>T p.P233S Substitution - Missense 7:5222629-5222629 + PD7443a COSM3720247 c.618G>A p.A206A Substitution - coding silent 7:5217963-5217963 + 587342 COSM1232769 c.341G>T p.S114I Substitution - Missense 7:5214664-5214664 + SC_9083 COSM5573251 c.576+1G>T p.? Unknown 7:5217188-5217188 + CHC1915T COSM3669786 c.1254C>G p.A418A Substitution - coding silent 7:5230836-5230836 + TCGA-31-1953-01 COSM118639 c.603C>T p.H201H Substitution - coding silent 7:5217948-5217948 + TCGA-D8-A27G-01 COSM1451401 c.489G>A p.A163A Substitution - coding silent 7:5217100-5217100 + S00944 COSM316564 c.1333G>T p.E445* Substitution - Nonsense 7:5230915-5230915 + 226 COSM3730170 c.1142C>T p.T381M Substitution - Missense 7:5229628-5229628 + BZ14 COSM5758319 c.577-8T>C p.? Unknown 7:5217914-5217914 + CSCC-55-T COSM4555109 c.641G>A p.G214E Substitution - Missense 7:5217986-5217986 + 824_T COSM3950617 c.400G>T p.E134* Substitution - Nonsense 7:5216581-5216581 + TCGA-AD-6964-01 COSM1451401 c.489G>A p.A163A Substitution - coding silent 7:5217100-5217100 + TCGA-D3-A3CC-06 COSM3639612 c.1264G>C p.D422H Substitution - Missense 7:5230846-5230846 + 3N33-VS-3T33 COSM4980909 c.778G>A p.G260S Substitution - Missense 7:5225860-5225860 + TCGA-BR-6452-01 COSM3881702 c.105T>A p.G35G Substitution - coding silent 7:5193148-5193148 + 12 COSM5732645 c.1204G>A p.A402T Substitution - Missense 7:5229690-5229690 + TCGA-IR-A3LK-01 COSM4816471 c.1107G>A p.L369L Substitution - coding silent 7:5228197-5228197 + ESCC_BICR_012T COSM5433206 c.1093G>A p.G365S Substitution - Missense 7:5228183-5228183 + 1425-01-01TD COSM5418721 c.814G>T p.V272L Substitution - Missense 7:5225896-5225896 + ZZUFHECRKL-G062T COSM5432729 c.128+7T>G p.? Unknown 7:5193178-5193178 + T351 COSM4741261 c.1200C>T p.Y400Y Substitution - coding silent 7:5229686-5229686 + TCGA-A8-A0A6-01 COSM3832993 c.440T>G p.V147G Substitution - Missense 7:5216621-5216621 + ESO-119 COSM1270470 c.76G>T p.E26* Substitution - Nonsense 7:5193119-5193119 + HCC159T COSM5806833 c.492G>C p.L164L Substitution - coding silent 7:5217103-5217103 + S01542 COSM5669767 c.257G>A p.S86N Substitution - Missense 7:5214580-5214580 + TCGA-B7-5816-01 COSM3881707 c.943A>G p.N315D Substitution - Missense 7:5227274-5227274 + EGC3 COSM5062521 c.682A>G p.R228G Substitution - Missense 7:5222614-5222614 + CSCC-44-T COSM3720247 c.618G>A p.A206A Substitution - coding silent 7:5217963-5217963 + TCGA-AM-5821-01 COSM3762744 c.597G>A p.P199P Substitution - coding silent 7:5217942-5217942 + TCGA-AP-A0LM-01 COSM1090710 c.461C>T p.T154M Substitution - Missense 7:5216642-5216642 + TCGA-HU-A4HD-01 COSM3881704 c.522G>A p.A174A Substitution - coding silent 7:5217133-5217133 + tumor_4119279 COSM601657 c.428G>T p.R143L Substitution - Missense 7:5216609-5216609 + TCGA-B5-A11E-01 COSM1090717 c.1332C>T p.S444S Substitution - coding silent 7:5230914-5230914 + ATL028 COSM5710626 c.212-1G>T p.? Unknown 7:5214534-5214534 + TCGA-EE-A2GR-06 COSM3639607 c.270C>T p.I90I Substitution - coding silent 7:5214593-5214593 + PD4959a COSM5778361 c.1023G>T p.K341N Substitution - Missense 7:5228113-5228113 + CRC-22T COSM5453136 c.983G>T p.C328F Substitution - Missense 7:5227314-5227314 + Pat_01_B COSM5872857 c.113G>A p.R38H Substitution - Missense 7:5193156-5193156 + TCGA-EI-6509-01 COSM5078462 c.681_682insA p.R228fs*13 Insertion - Frameshift 7:5222613-5222614 + 2492729 COSM5725881 c.456G>A p.R152R Substitution - coding silent 7:5216637-5216637 + MO_1096 COSM5568343 c.1331G>A p.S444N Substitution - Missense 7:5230913-5230913 + TCGA-HU-A4GQ-01 COSM3698467 c.885C>T p.F295F Substitution - coding silent 7:5227216-5227216 + CHC1915T COSM3669786 c.1254C>G p.A418A Substitution - coding silent 7:5230836-5230836 + TCGA-25-2404-01 COSM73295 c.193G>C p.E65Q Substitution - Missense 7:5199640-5199640 + TCGA-BR-6452-01 COSM3881706 c.779G>A p.G260D Substitution - Missense 7:5225861-5225861 + TCGA-D1-A167-01 COSM1090716 c.1315C>T p.R439C Substitution - Missense 7:5230897-5230897 + TCGA-A8-A09Z-01 COSM3832994 c.846A>G p.E282E Substitution - coding silent 7:5225928-5225928 + TCGA-DR-A0ZM-01 COSM461580 c.726G>A p.R242R Substitution - coding silent 7:5222658-5222658 + ME024T COSM226171 c.1205C>T p.A402V Substitution - Missense 7:5229691-5229691 + 8051716 COSM4139355 c.1178G>T p.C393F Substitution - Missense 7:5229664-5229664 + S00944 COSM316564 c.1333G>T p.E445* Substitution - Nonsense 7:5230915-5230915 + TCGA-BR-4362-01 COSM3881709 c.1121G>A p.R374Q Substitution - Missense 7:5228211-5228211 + SJOS001112_M2 COSM5024474 c.183G>A p.V61V Substitution - coding silent 7:5199630-5199630 + TCGA-EE-A29B-06 COSM3639611 c.1235C>T p.S412L Substitution - Missense 7:5229721-5229721 + Gp2D COSM3265900 c.451A>G p.I151V Substitution - Missense 7:5216632-5216632 + TCGA-BR-8589-01 COSM3881703 c.368A>C p.K123T Substitution - Missense 7:5214691-5214691 + 10-P1058 COSM4587475 c.1262A>G p.D421G Substitution - Missense 7:5230844-5230844 + TCGA-B5-A0JY-01 COSM1090711 c.543C>T p.I181I Substitution - coding silent 7:5217154-5217154 + TCGA-P5-A5EX-01 COSM4420669 c.562G>A p.D188N Substitution - Missense 7:5217173-5217173 + Gp5D COSM3265900 c.451A>G p.I151V Substitution - Missense 7:5216632-5216632 + TCGA-D1-A16N-01 COSM1090709 c.427C>T p.R143W Substitution - Missense 7:5216608-5216608 + PTC-54C COSM4162292 c.971G>C p.R324P Substitution - Missense 7:5227302-5227302 + TCGA-DU-5874-01 COSM3929105 c.467C>T p.P156L Substitution - Missense 7:5216648-5216648 + TCGA-CG-5726-01 COSM3881708 c.1050C>T p.A350A Substitution - coding silent 7:5228140-5228140 + EGC15 COSM5062522 c.1284C>T p.G428G Substitution - coding silent 7:5230866-5230866 + HCC098T COSM5806833 c.492G>C p.L164L Substitution - coding silent 7:5217103-5217103 + CHC320T COSM4162292 c.971G>C p.R324P Substitution - Missense 7:5227302-5227302 + TCGA-AA-3831-01 COSM295054 c.1229T>C p.V410A Substitution - Missense 7:5229715-5229715 + HT115 COSM3265895 c.166T>G p.F56V Substitution - Missense 7:5199613-5199613 + BCM325T COSM1451402 c.544G>A p.G182R Substitution - Missense 7:5217155-5217155 + ACINAR01 COSM1734824 c.617C>T p.A206V Substitution - Missense 7:5217962-5217962 + 6115219 COSM5569472 c.657G>A p.T219T Substitution - coding silent 7:5218002-5218002 + TCGA-25-1625-01 COSM82447 c.1197A>G p.T399T Substitution - coding silent 7:5229683-5229683 + TCGA-BR-4369-01 COSM3881704 c.522G>A p.A174A Substitution - coding silent 7:5217133-5217133 + TCGA-D3-A1Q6-06 COSM3639609 c.683G>A p.R228K Substitution - Missense 7:5222615-5222615 + ESCC_30 COSM1451403 c.724C>T p.R242W Substitution - Missense 7:5222656-5222656 + ESO-189 COSM1270471 c.1112A>C p.K371T Substitution - Missense 7:5228202-5228202 + TCGA-AX-A063-01 COSM1090713 c.596C>T p.P199L Substitution - Missense 7:5217941-5217941 + TCGA-B7-5816-01 COSM3881711 c.1299C>T p.D433D Substitution - coding silent 7:5230881-5230881 + TCGA-DU-6399-01 COSM3929106 c.1285G>A p.A429T Substitution - Missense 7:5230867-5230867 + TCGA-AA-3510-01 COSM1451403 c.724C>T p.R242W Substitution - Missense 7:5222656-5222656 + HCT15 COSM3265917 c.1243A>G p.T415A Substitution - Missense 7:5229729-5229729 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.122363 7p22.1 609225

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K371T c.1112A>C 7 5267833 ESCA A G Missense p.I142V c.424A>G 7 5256236 CM A G Missense p.M449V c.1345A>G 7 5270558 RCCC A G Missense p.N315D c.943A>G 7 5266905 STAD C A Synonymous p.R242R c.724C>A 7 5262287 LUSC CC TT IntronicBlockSubstitution . c.740+99_740+100delinsTT 7 5262402 CM C G Nonsense p.S31* c.92C>G 7 5232766 HNSC C T IntronicSNV . c.577-151C>T 7 5257402 CM C T IntronicSNV . c.577-161C>T 7 5257392 CM C T Missense p.P156L c.467C>T 7 5256279 LGG C T Missense p.P199L c.596C>T 7 5257572 UCEC C T Missense p.S412L c.1235C>T 7 5269352 CM C T Synonymous p.A350A c.1050C>T 7 5267771 STAD C T Synonymous p.D433D c.1299C>T 7 5270512 STAD C T Synonymous p.H201H c.603C>T 7 5257579 OV C T Synonymous p.I90I c.270C>T 7 5254224 CM G A Missense p.A429T c.1285G>A 7 5270498 LGG G A Missense p.D169N c.505G>A 7 5256747 COREAD G A Missense p.G405E c.1214G>A 7 5269331 CM G A Missense p.R228K c.683G>A 7 5262246 CM G A Missense p.R242Q c.725G>A 7 5262288 BRCA G A SpliceDonorSNV . c.211+1G>A 7 5239290 LUAD G A Synonymous p.A174A c.522G>A 7 5256764 STAD G A Synonymous p.K146K c.438G>A 7 5256250 LUAD G C Missense p.D422H c.1264G>C 7 5270477 CM G C Missense p.E65Q c.193G>C 7 5239271 OV G T Missense p.D62Y c.184G>T 7 5239262 LUAD G T Missense p.G296W c.886G>T 7 5266848 LUAD G T Nonsense p.E26* c.76G>T 7 5232750 ESCA G T Nonsense p.E445* c.1333G>T 7 5270546 SCLC T C Missense p.V410A c.1229T>C 7 5269346 COREAD