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 107393922 107393922 + Missense_Mutation SNP G G A TCGA-4Z-AA7M-01A-11D-A391-08 TCGA-4Z-AA7M-10A-01D-A394-08 g.chr7:107393922G>A c.248G>A c.(247-249)cGa>cAa p.R83Q BLCA 7 107398668 107398668 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 g.chr7:107398668G>A c.521G>A c.(520-522)aGa>aAa p.R174K BLCA 7 107398814 107398814 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr7:107398814C>T c.667C>T c.(667-669)Cca>Tca p.P223S BLCA 7 107398861 107398861 + Missense_Mutation SNP C C G TCGA-XF-A9SL-01A-11D-A391-08 TCGA-XF-A9SL-10A-01D-A394-08 g.chr7:107398861C>G c.714C>G c.(712-714)atC>atG p.I238M BLCA 7 107399329 107399329 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr7:107399329G>A c.1182G>A c.(1180-1182)caG>caA p.Q394Q BLCA 7 107399351 107399351 + Missense_Mutation SNP C C A TCGA-KQ-A41O-01A-12D-A34U-08 TCGA-KQ-A41O-10D-01D-A34X-08 g.chr7:107399351C>A c.1204C>A c.(1204-1206)Cct>Act p.P402T BLCA 7 107399366 107399366 + Missense_Mutation SNP C C A TCGA-KQ-A41O-01A-12D-A34U-08 TCGA-KQ-A41O-10D-01D-A34X-08 g.chr7:107399366C>A c.1219C>A c.(1219-1221)Ccc>Acc p.P407T BLCA 7 107399524 107399524 + Silent SNP G G A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 g.chr7:107399524G>A c.1377G>A c.(1375-1377)ggG>ggA p.G459G BRCA 7 107395899 107395899 + Missense_Mutation SNP A A G TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr7:107395899A>G c.403A>G c.(403-405)Att>Gtt p.I135V BRCA 7 107399335 107399335 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr7:107399335A>C c.1188A>C c.(1186-1188)ccA>ccC p.P396P BRCA 7 107399371 107399371 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr7:107399371A>C c.1224A>C c.(1222-1224)ccA>ccC p.P408P BRCA 7 107399569 107399569 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr7:107399569A>C c.1422A>C c.(1420-1422)ccA>ccC p.P474P CESC 7 107393876 107393876 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 g.chr7:107393876G>C c.202G>C c.(202-204)Gaa>Caa p.E68Q CESC 7 107398799 107398799 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 g.chr7:107398799G>C c.652G>C c.(652-654)Gag>Cag p.E218Q COAD 7 107393854 107393854 + Splice_Site SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr7:107393854A>G c.e3-1 COAD 7 107394414 107394414 + Silent SNP T T C TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr7:107394414T>C c.357T>C c.(355-357)taT>taC p.Y119Y COAD 7 107398857 107398857 + Missense_Mutation SNP A A G TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr7:107398857A>G c.710A>G c.(709-711)cAc>cGc p.H237R COAD 7 107398982 107398982 + Nonsense_Mutation SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr7:107398982C>T c.835C>T c.(835-837)Cag>Tag p.Q279* COAD 7 107398983 107398983 + Missense_Mutation SNP A A G TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr7:107398983A>G c.836A>G c.(835-837)cAg>cGg p.Q279R COAD 7 107398984 107398984 + Missense_Mutation SNP G G T TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr7:107398984G>T c.837G>T c.(835-837)caG>caT p.Q279H COAD 7 107399549 107399549 + Missense_Mutation SNP G G T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr7:107399549G>T c.1402G>T c.(1402-1404)Ggt>Tgt p.G468C COADREAD 7 107389430 107389430 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:107389430C>T c.119C>T c.(118-120)cCt>cTt p.P40L COADREAD 7 107393854 107393854 + Splice_Site SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr7:107393854A>G c.e3-1 COADREAD 7 107393862 107393862 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:107393862T>G c.188T>G c.(187-189)tTt>tGt p.F63C COADREAD 7 107394414 107394414 + Silent SNP T T C TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr7:107394414T>C c.357T>C c.(355-357)taT>taC p.Y119Y COADREAD 7 107398857 107398857 + Missense_Mutation SNP A A G TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr7:107398857A>G c.710A>G c.(709-711)cAc>cGc p.H237R COADREAD 7 107398982 107398982 + Nonsense_Mutation SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr7:107398982C>T c.835C>T c.(835-837)Cag>Tag p.Q279* COADREAD 7 107398983 107398983 + Missense_Mutation SNP A A G TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr7:107398983A>G c.836A>G c.(835-837)cAg>cGg p.Q279R COADREAD 7 107398984 107398984 + Missense_Mutation SNP G G T TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr7:107398984G>T c.837G>T c.(835-837)caG>caT p.Q279H COADREAD 7 107399549 107399549 + Missense_Mutation SNP G G T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr7:107399549G>T c.1402G>T c.(1402-1404)Ggt>Tgt p.G468C GBMLGG 7 107395924 107395924 + Missense_Mutation SNP A A T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:107395924A>T c.428A>T c.(427-429)aAg>aTg p.K143M GBMLGG 7 107398758 107398758 + Missense_Mutation SNP A A G TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 g.chr7:107398758A>G c.611A>G c.(610-612)aAt>aGt p.N204S GBMLGG 7 107399325 107399325 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:107399325C>T c.1178C>T c.(1177-1179)gCc>gTc p.A393V GBMLGG 7 107399540 107399540 + Nonsense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:107399540C>T c.1393C>T c.(1393-1395)Cga>Tga p.R465* HNSC 7 107398754 107398754 + Missense_Mutation SNP G G A TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 g.chr7:107398754G>A c.607G>A c.(607-609)Gaa>Aaa p.E203K HNSC 7 107399402 107399402 + Frame_Shift_Del DEL C C - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr7:107399402delC c.1255delC c.(1255-1257)cccfs p.P421fs HNSC 7 107399511 107399511 + Missense_Mutation SNP C C A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 g.chr7:107399511C>A c.1364C>A c.(1363-1365)cCt>cAt p.P455H KIPAN 7 107389353 107389354 + Frame_Shift_Del DEL TG TG - TCGA-2Z-A9JQ-01A-11D-A42J-10 TCGA-2Z-A9JQ-10A-01D-A42M-10 g.chr7:107389353_107389354delTG c.42_43delTG c.(40-45)tctggafs p.G15fs KIPAN 7 107389358 107389358 + Frame_Shift_Del DEL C C - TCGA-2Z-A9JQ-01A-11D-A42J-10 TCGA-2Z-A9JQ-10A-01D-A42M-10 g.chr7:107389358delC c.47delC c.(46-48)tccfs p.S16fs KIPAN 7 107393904 107393904 + Missense_Mutation SNP A A G TCGA-CJ-4894-01A-01D-1373-10 TCGA-CJ-4894-11A-01D-1373-10 g.chr7:107393904A>G c.230A>G c.(229-231)gAg>gGg p.E77G KIPAN 7 107393906 107393906 + Missense_Mutation SNP C C G TCGA-B0-4718-01A-01D-1361-10 TCGA-B0-4718-11A-01D-1361-10 g.chr7:107393906C>G c.232C>G c.(232-234)Ctg>Gtg p.L78V KIPAN 7 107395874 107395874 + Silent SNP G G A TCGA-BP-4781-01A-01D-1373-10 TCGA-BP-4781-11A-01D-1373-10 g.chr7:107395874G>A c.378G>A c.(376-378)aaG>aaA p.K126K KIPAN 7 107399418 107399418 + Missense_Mutation SNP A A T TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 g.chr7:107399418A>T c.1271A>T c.(1270-1272)tAt>tTt p.Y424F KIRC 7 107393904 107393904 + Missense_Mutation SNP A A G TCGA-CJ-4894-01A-01D-1373-10 TCGA-CJ-4894-11A-01D-1373-10 g.chr7:107393904A>G c.230A>G c.(229-231)gAg>gGg p.E77G KIRC 7 107393906 107393906 + Missense_Mutation SNP C C G TCGA-B0-4718-01A-01D-1361-10 TCGA-B0-4718-11A-01D-1361-10 g.chr7:107393906C>G c.232C>G c.(232-234)Ctg>Gtg p.L78V KIRC 7 107395874 107395874 + Silent SNP G G A TCGA-BP-4781-01A-01D-1373-10 TCGA-BP-4781-11A-01D-1373-10 g.chr7:107395874G>A c.378G>A c.(376-378)aaG>aaA p.K126K KIRC 7 107399418 107399418 + Missense_Mutation SNP A A T TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 g.chr7:107399418A>T c.1271A>T c.(1270-1272)tAt>tTt p.Y424F KIRP 7 107389353 107389354 + Frame_Shift_Del DEL TG TG - TCGA-2Z-A9JQ-01A-11D-A42J-10 TCGA-2Z-A9JQ-10A-01D-A42M-10 g.chr7:107389353_107389354delTG c.42_43delTG c.(40-45)tctggafs p.G15fs KIRP 7 107389358 107389358 + Frame_Shift_Del DEL C C - TCGA-2Z-A9JQ-01A-11D-A42J-10 TCGA-2Z-A9JQ-10A-01D-A42M-10 g.chr7:107389358delC c.47delC c.(46-48)tccfs p.S16fs LGG 7 107395924 107395924 + Missense_Mutation SNP A A T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:107395924A>T c.428A>T c.(427-429)aAg>aTg p.K143M LGG 7 107398758 107398758 + Missense_Mutation SNP A A G TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 g.chr7:107398758A>G c.611A>G c.(610-612)aAt>aGt p.N204S LGG 7 107399325 107399325 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:107399325C>T c.1178C>T c.(1177-1179)gCc>gTc p.A393V LGG 7 107399540 107399540 + Nonsense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:107399540C>T c.1393C>T c.(1393-1395)Cga>Tga p.R465* LIHC 7 107399297 107399297 + Missense_Mutation SNP A A G TCGA-RC-A6M5-01A-11D-A32G-10 TCGA-RC-A6M5-10A-01D-A32G-10 g.chr7:107399297A>G c.1150A>G c.(1150-1152)Ata>Gta p.I384V LUAD 7 107395909 107395909 + Frame_Shift_Del DEL A A - TCGA-17-Z054-01A-01W-0747-08 TCGA-17-Z054-11A-01W-0747-08 g.chr7:107395909delA c.413delA c.(412-414)gaafs p.E138fs LUAD 7 107398785 107398785 + Missense_Mutation SNP C C T TCGA-55-7724-01A-11D-2167-08 TCGA-55-7724-10A-01D-2167-08 g.chr7:107398785C>T c.638C>T c.(637-639)cCa>cTa p.P213L LUAD 7 107398942 107398942 + Silent SNP A A G TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr7:107398942A>G c.795A>G c.(793-795)gcA>gcG p.A265A LUAD 7 107399240 107399240 + Missense_Mutation SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 g.chr7:107399240C>T c.1093C>T c.(1093-1095)Cct>Tct p.P365S LUAD 7 107399464 107399464 + Silent SNP G G C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr7:107399464G>C c.1317G>C c.(1315-1317)ctG>ctC p.L439L LUAD 7 107399544 107399544 + Missense_Mutation SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 g.chr7:107399544T>C c.1397T>C c.(1396-1398)tTg>tCg p.L466S LUSC 7 107398612 107398612 + Missense_Mutation SNP T T G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 g.chr7:107398612T>G c.465T>G c.(463-465)atT>atG p.I155M LUSC 7 107398830 107398830 + Missense_Mutation SNP A A G TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chr7:107398830A>G c.683A>G c.(682-684)cAt>cGt p.H228R LUSC 7 107398922 107398922 + Missense_Mutation SNP G G A TCGA-66-2793-01A-01D-1267-08 TCGA-66-2793-11A-01D-1267-08 g.chr7:107398922G>A c.775G>A c.(775-777)Gat>Aat p.D259N LUSC 7 107399420 107399420 + Missense_Mutation SNP A A G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 g.chr7:107399420A>G c.1273A>G c.(1273-1275)Aat>Gat p.N425D OV 7 107389401 107389401 + Silent SNP C C T TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 g.chr7:107389401C>T c.90C>T c.(88-90)ctC>ctT p.L30L OV 7 107398678 107398678 + Missense_Mutation SNP G G T TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 g.chr7:107398678G>T c.531G>T c.(529-531)ttG>ttT p.L177F OV 7 107398982 107398982 + Nonsense_Mutation SNP C C T TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 g.chr7:107398982C>T c.835C>T c.(835-837)Cag>Tag p.Q279* PAAD 7 107395909 107395909 + Frame_Shift_Del DEL A A - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 g.chr7:107395909delA c.413delA c.(412-414)gaafs p.E138fs PAAD 7 107395909 107395909 + Frame_Shift_Del DEL A A - TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 g.chr7:107395909delA c.413delA c.(412-414)gaafs p.E138fs PAAD 7 107398626 107398626 + Missense_Mutation SNP G G A TCGA-2L-AAQA-01A-21D-A38G-08 TCGA-2L-AAQA-11A-11D-A38J-08 g.chr7:107398626G>A c.479G>A c.(478-480)cGa>cAa p.R160Q PAAD 7 107399574 107399574 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:107399574C>A c.1427C>A c.(1426-1428)cCt>cAt p.P476H PRAD 7 107394392 107394392 + Missense_Mutation SNP G G A TCGA-YL-A9WX-01A-21D-A41K-08 TCGA-YL-A9WX-10A-01D-A41N-08 g.chr7:107394392G>A c.335G>A c.(334-336)tGt>tAt p.C112Y READ 7 107389430 107389430 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:107389430C>T c.119C>T c.(118-120)cCt>cTt p.P40L READ 7 107393862 107393862 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:107393862T>G c.188T>G c.(187-189)tTt>tGt p.F63C SKCM 7 107389390 107389390 + Missense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr7:107389390C>T c.79C>T c.(79-81)Cct>Tct p.P27S SKCM 7 107393930 107393930 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 g.chr7:107393930C>T c.256C>T c.(256-258)Cct>Tct p.P86S SKCM 7 107393942 107393942 + Missense_Mutation SNP T T A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr7:107393942T>A c.268T>A c.(268-270)Ttt>Att p.F90I SKCM 7 107395912 107395912 + Missense_Mutation SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr7:107395912A>C c.416A>C c.(415-417)aAa>aCa p.K139T SKCM 7 107398974 107398974 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr7:107398974C>T c.827C>T c.(826-828)tCg>tTg p.S276L SKCM 7 107399033 107399033 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr7:107399033C>T c.886C>T c.(886-888)Cct>Tct p.P296S SKCM 7 107399133 107399133 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr7:107399133C>T c.986C>T c.(985-987)tCg>tTg p.S329L SKCM 7 107399243 107399243 + Missense_Mutation SNP C C T TCGA-DA-A1IA-06A-11D-A196-08 TCGA-DA-A1IA-10A-01D-A198-08 g.chr7:107399243C>T c.1096C>T c.(1096-1098)Cac>Tac p.H366Y SKCM 7 107399438 107399438 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr7:107399438C>T c.1291C>T c.(1291-1293)Cag>Tag p.Q431* SKCM 7 107399489 107399489 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr7:107399489G>A c.1342G>A c.(1342-1344)Gga>Aga p.G448R

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 7 107394364 107394364 single base substitution G A 3_prime_UTR_variant BLCA-CN 7 107394364 107394364 single base substitution G A downstream_gene_variant BLCA-CN 7 107394364 107394364 single base substitution G A exon_variant BLCA-CN 7 107394364 107394364 single base substitution G A missense_variant D102N 304G>A BLCA-CN 7 107394364 107394364 single base substitution G A missense_variant D103N 307G>A BLCA-CN 7 107394364 107394364 single base substitution G A missense_variant D53N 157G>A BLCA-CN 7 107399015 107399015 single base substitution A T 3_prime_UTR_variant BLCA-CN 7 107399015 107399015 single base substitution A T downstream_gene_variant BLCA-CN 7 107399015 107399015 single base substitution A T missense_variant S240C 718A>T BLCA-CN 7 107399015 107399015 single base substitution A T missense_variant S289C 865A>T BLCA-CN 7 107399015 107399015 single base substitution A T missense_variant S290C 868A>T BLCA-US 7 107398668 107398668 single base substitution G A 3_prime_UTR_variant BLCA-US 7 107398668 107398668 single base substitution G A downstream_gene_variant BLCA-US 7 107398668 107398668 single base substitution G A missense_variant R124K 371G>A BLCA-US 7 107398668 107398668 single base substitution G A missense_variant R173K 518G>A BLCA-US 7 107398668 107398668 single base substitution G A missense_variant R174K 521G>A BRCA-EU 7 107379350 107379350 single base substitution T C upstream_gene_variant BRCA-EU 7 107380004 107380004 single base substitution T C upstream_gene_variant BRCA-EU 7 107382371 107382371 single base substitution A T upstream_gene_variant BRCA-EU 7 107382739 107382739 single base substitution C T upstream_gene_variant BRCA-EU 7 107382975 107382975 single base substitution A C upstream_gene_variant BRCA-EU 7 107383819 107383819 single base substitution G C upstream_gene_variant BRCA-EU 7 107384820 107384820 single base substitution C G intron_variant BRCA-EU 7 107384820 107384820 single base substitution C G upstream_gene_variant BRCA-EU 7 107385641 107385641 single base substitution T A intron_variant BRCA-EU 7 107386199 107386199 single base substitution G T intron_variant BRCA-EU 7 107386295 107386295 single base substitution G A intron_variant BRCA-EU 7 107387911 107387911 single base substitution A G intron_variant BRCA-EU 7 107389620 107389620 single base substitution G A exon_variant BRCA-EU 7 107389620 107389620 single base substitution G A intron_variant BRCA-EU 7 107393182 107393182 single base substitution T A downstream_gene_variant BRCA-EU 7 107393182 107393182 single base substitution T A intron_variant BRCA-EU 7 107393954 107393954 single base substitution C G downstream_gene_variant BRCA-EU 7 107393954 107393954 single base substitution C G missense_variant Q44E 130C>G BRCA-EU 7 107393954 107393954 single base substitution C G missense_variant Q93E 277C>G BRCA-EU 7 107393954 107393954 single base substitution C G missense_variant Q94E 280C>G BRCA-EU 7 107393954 107393954 single base substitution C G splice_region_variant BRCA-EU 7 107394419 107394419 single base substitution G C 3_prime_UTR_variant BRCA-EU 7 107394419 107394419 single base substitution G C downstream_gene_variant BRCA-EU 7 107394419 107394419 single base substitution G C exon_variant BRCA-EU 7 107394419 107394419 single base substitution G C missense_variant R120T 359G>C BRCA-EU 7 107394419 107394419 single base substitution G C missense_variant R121T 362G>C BRCA-EU 7 107394419 107394419 single base substitution G C missense_variant R71T 212G>C BRCA-EU 7 107394826 107394826 single base substitution G C downstream_gene_variant BRCA-EU 7 107394826 107394826 single base substitution G C intron_variant BRCA-EU 7 107395452 107395452 single base substitution T C downstream_gene_variant BRCA-EU 7 107395452 107395452 single base substitution T C intron_variant BRCA-EU 7 107396034 107396034 deletion of <=200bp G - downstream_gene_variant BRCA-EU 7 107396034 107396034 deletion of <=200bp G - exon_variant BRCA-EU 7 107396034 107396034 deletion of <=200bp G - intron_variant BRCA-EU 7 107397410 107397410 single base substitution G T downstream_gene_variant BRCA-EU 7 107397410 107397410 single base substitution G T intron_variant BRCA-EU 7 107398344 107398344 single base substitution C T downstream_gene_variant BRCA-EU 7 107398344 107398344 single base substitution C T intron_variant BRCA-EU 7 107398416 107398416 single base substitution C T downstream_gene_variant BRCA-EU 7 107398416 107398416 single base substitution C T intron_variant BRCA-EU 7 107398563 107398563 single base substitution C T downstream_gene_variant BRCA-EU 7 107398563 107398563 single base substitution C T intron_variant BRCA-EU 7 107398769 107398769 single base substitution C G 3_prime_UTR_variant BRCA-EU 7 107398769 107398769 single base substitution C G downstream_gene_variant BRCA-EU 7 107398769 107398769 single base substitution C G missense_variant P158A 472C>G BRCA-EU 7 107398769 107398769 single base substitution C G missense_variant P207A 619C>G BRCA-EU 7 107398769 107398769 single base substitution C G missense_variant P208A 622C>G BRCA-EU 7 107398844 107398844 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 107398844 107398844 single base substitution C T downstream_gene_variant BRCA-EU 7 107398844 107398844 single base substitution C T missense_variant P183S 547C>T BRCA-EU 7 107398844 107398844 single base substitution C T missense_variant P232S 694C>T BRCA-EU 7 107398844 107398844 single base substitution C T missense_variant P233S 697C>T BRCA-EU 7 107399656 107399656 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 7 107399656 107399656 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 107401914 107401914 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 107401914 107401914 single base substitution G A downstream_gene_variant BRCA-EU 7 107402095 107402095 single base substitution A G 3_prime_UTR_variant BRCA-EU 7 107402095 107402095 single base substitution A G downstream_gene_variant BRCA-EU 7 107403117 107403117 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 107403970 107403970 single base substitution T G downstream_gene_variant BRCA-EU 7 107405134 107405134 single base substitution T C downstream_gene_variant BRCA-EU 7 107406329 107406329 single base substitution A G downstream_gene_variant BRCA-EU 7 107406899 107406899 single base substitution T C downstream_gene_variant BRCA-FR 7 107380123 107380123 single base substitution G T upstream_gene_variant BRCA-FR 7 107385641 107385641 single base substitution T A intron_variant BRCA-FR 7 107393954 107393954 single base substitution C G downstream_gene_variant BRCA-FR 7 107393954 107393954 single base substitution C G missense_variant Q44E 130C>G BRCA-FR 7 107393954 107393954 single base substitution C G missense_variant Q93E 277C>G BRCA-FR 7 107393954 107393954 single base substitution C G missense_variant Q94E 280C>G BRCA-FR 7 107393954 107393954 single base substitution C G splice_region_variant BRCA-FR 7 107398344 107398344 single base substitution C T downstream_gene_variant BRCA-FR 7 107398344 107398344 single base substitution C T intron_variant BRCA-FR 7 107398563 107398563 single base substitution C T downstream_gene_variant BRCA-FR 7 107398563 107398563 single base substitution C T intron_variant BRCA-FR 7 107398769 107398769 single base substitution C G 3_prime_UTR_variant BRCA-FR 7 107398769 107398769 single base substitution C G downstream_gene_variant BRCA-FR 7 107398769 107398769 single base substitution C G missense_variant P158A 472C>G BRCA-FR 7 107398769 107398769 single base substitution C G missense_variant P207A 619C>G BRCA-FR 7 107398769 107398769 single base substitution C G missense_variant P208A 622C>G BRCA-FR 7 107398844 107398844 single base substitution C T 3_prime_UTR_variant BRCA-FR 7 107398844 107398844 single base substitution C T downstream_gene_variant BRCA-FR 7 107398844 107398844 single base substitution C T missense_variant P183S 547C>T BRCA-FR 7 107398844 107398844 single base substitution C T missense_variant P232S 694C>T BRCA-FR 7 107398844 107398844 single base substitution C T missense_variant P233S 697C>T BRCA-UK 7 107397803 107397803 single base substitution G A downstream_gene_variant BRCA-UK 7 107397803 107397803 single base substitution G A intron_variant BRCA-UK 7 107406899 107406899 single base substitution T C downstream_gene_variant BRCA-US 7 107395899 107395899 single base substitution A G 3_prime_UTR_variant BRCA-US 7 107395899 107395899 single base substitution A G downstream_gene_variant BRCA-US 7 107395899 107395899 single base substitution A G exon_variant BRCA-US 7 107395899 107395899 single base substitution A G intron_variant BRCA-US 7 107395899 107395899 single base substitution A G missense_variant I134V 400A>G BRCA-US 7 107395899 107395899 single base substitution A G missense_variant I135V 403A>G BRCA-US 7 107395899 107395899 single base substitution A G missense_variant I85V 253A>G BRCA-US 7 107399335 107399335 single base substitution A C downstream_gene_variant BRCA-US 7 107399335 107399335 single base substitution A C synonymous_variant P395P 1185A>C BRCA-US 7 107399335 107399335 single base substitution A C synonymous_variant P396P 1188A>C BRCA-US 7 107399371 107399371 single base substitution A C downstream_gene_variant BRCA-US 7 107399371 107399371 single base substitution A C synonymous_variant P407P 1221A>C BRCA-US 7 107399371 107399371 single base substitution A C synonymous_variant P408P 1224A>C BRCA-US 7 107399569 107399569 single base substitution A C downstream_gene_variant BRCA-US 7 107399569 107399569 single base substitution A C synonymous_variant P473P 1419A>C BRCA-US 7 107399569 107399569 single base substitution A C synonymous_variant P474P 1422A>C BTCA-JP 7 107389307 107389307 deletion of <=200bp T - intron_variant BTCA-JP 7 107392891 107392891 single base substitution C G downstream_gene_variant BTCA-JP 7 107392891 107392891 single base substitution C G intron_variant BTCA-JP 7 107395909 107395909 deletion of <=200bp A - 3_prime_UTR_variant BTCA-JP 7 107395909 107395909 deletion of <=200bp A - downstream_gene_variant BTCA-JP 7 107395909 107395909 deletion of <=200bp A - exon_variant BTCA-JP 7 107395909 107395909 deletion of <=200bp A - frameshift_variant E137 BTCA-JP 7 107395909 107395909 deletion of <=200bp A - frameshift_variant E138 BTCA-JP 7 107395909 107395909 deletion of <=200bp A - frameshift_variant E88 BTCA-JP 7 107395909 107395909 deletion of <=200bp A - intron_variant BTCA-JP 7 107406419 107406419 deletion of <=200bp T - downstream_gene_variant CESC-US 7 107384958 107384958 single base substitution G A 5_prime_UTR_variant CESC-US 7 107384958 107384958 single base substitution G A intron_variant CESC-US 7 107393876 107393876 single base substitution G C 3_prime_UTR_variant CESC-US 7 107393876 107393876 single base substitution G C downstream_gene_variant CESC-US 7 107393876 107393876 single base substitution G C exon_variant CESC-US 7 107393876 107393876 single base substitution G C missense_variant E18Q 52G>C CESC-US 7 107393876 107393876 single base substitution G C missense_variant E67Q 199G>C CESC-US 7 107393876 107393876 single base substitution G C missense_variant E68Q 202G>C CESC-US 7 107398799 107398799 single base substitution G C 3_prime_UTR_variant CESC-US 7 107398799 107398799 single base substitution G C downstream_gene_variant CESC-US 7 107398799 107398799 single base substitution G C missense_variant E168Q 502G>C CESC-US 7 107398799 107398799 single base substitution G C missense_variant E217Q 649G>C CESC-US 7 107398799 107398799 single base substitution G C missense_variant E218Q 652G>C COAD-US 7 107393854 107393854 single base substitution A G downstream_gene_variant COAD-US 7 107393854 107393854 single base substitution A G splice_acceptor_variant COAD-US 7 107393854 107393854 single base substitution A G splice_region_variant COAD-US 7 107399549 107399549 single base substitution G T downstream_gene_variant COAD-US 7 107399549 107399549 single base substitution G T missense_variant G467C 1399G>T COAD-US 7 107399549 107399549 single base substitution G T missense_variant G468C 1402G>T COCA-CN 7 107390383 107390383 single base substitution T A downstream_gene_variant COCA-CN 7 107390383 107390383 single base substitution T A intron_variant COCA-CN 7 107398712 107398712 single base substitution C T 3_prime_UTR_variant COCA-CN 7 107398712 107398712 single base substitution C T downstream_gene_variant COCA-CN 7 107398712 107398712 single base substitution C T missense_variant R139C 415C>T COCA-CN 7 107398712 107398712 single base substitution C T missense_variant R188C 562C>T COCA-CN 7 107398712 107398712 single base substitution C T missense_variant R189C 565C>T COCA-CN 7 107398994 107398994 single base substitution C T 3_prime_UTR_variant COCA-CN 7 107398994 107398994 single base substitution C T downstream_gene_variant COCA-CN 7 107398994 107398994 single base substitution C T missense_variant R233C 697C>T COCA-CN 7 107398994 107398994 single base substitution C T missense_variant R282C 844C>T COCA-CN 7 107398994 107398994 single base substitution C T missense_variant R283C 847C>T ESAD-UK 7 107380020 107380020 single base substitution T A upstream_gene_variant ESAD-UK 7 107380625 107380625 single base substitution G T upstream_gene_variant ESAD-UK 7 107380841 107380877 deletion of <=200bp TGCAGGACCTCTCTAGATCAAAAGGTTCCTTTTCAAA - upstream_gene_variant ESAD-UK 7 107382779 107382779 single base substitution A T upstream_gene_variant ESAD-UK 7 107385152 107385152 single base substitution A G 5_prime_UTR_variant ESAD-UK 7 107385152 107385152 single base substitution A G intron_variant ESAD-UK 7 107385641 107385641 single base substitution T A intron_variant ESAD-UK 7 107386063 107386063 insertion of <=200bp - T intron_variant ESAD-UK 7 107386550 107386550 single base substitution A C intron_variant ESAD-UK 7 107386717 107386717 single base substitution A C intron_variant ESAD-UK 7 107387113 107387113 single base substitution C A intron_variant ESAD-UK 7 107387734 107387734 single base substitution G A intron_variant ESAD-UK 7 107389307 107389307 deletion of <=200bp T - intron_variant ESAD-UK 7 107391665 107391665 insertion of <=200bp - G downstream_gene_variant ESAD-UK 7 107391665 107391665 insertion of <=200bp - G intron_variant ESAD-UK 7 107392489 107392489 insertion of <=200bp - A downstream_gene_variant ESAD-UK 7 107392489 107392489 insertion of <=200bp - A intron_variant ESAD-UK 7 107393393 107393393 single base substitution T C downstream_gene_variant ESAD-UK 7 107393393 107393393 single base substitution T C intron_variant ESAD-UK 7 107393882 107393882 single base substitution C T 3_prime_UTR_variant ESAD-UK 7 107393882 107393882 single base substitution C T downstream_gene_variant ESAD-UK 7 107393882 107393882 single base substitution C T exon_variant ESAD-UK 7 107393882 107393882 single base substitution C T missense_variant R20W 58C>T ESAD-UK 7 107393882 107393882 single base substitution C T missense_variant R69W 205C>T ESAD-UK 7 107393882 107393882 single base substitution C T missense_variant R70W 208C>T ESAD-UK 7 107395279 107395279 single base substitution C A downstream_gene_variant ESAD-UK 7 107395279 107395279 single base substitution C A intron_variant ESAD-UK 7 107396504 107396504 single base substitution C G downstream_gene_variant ESAD-UK 7 107396504 107396504 single base substitution C G intron_variant ESAD-UK 7 107399308 107399308 single base substitution C T downstream_gene_variant ESAD-UK 7 107399308 107399308 single base substitution C T synonymous_variant P386P 1158C>T ESAD-UK 7 107399308 107399308 single base substitution C T synonymous_variant P387P 1161C>T ESAD-UK 7 107399718 107399718 single base substitution T C 3_prime_UTR_variant ESAD-UK 7 107399718 107399718 single base substitution T C downstream_gene_variant ESAD-UK 7 107405987 107405987 single base substitution G A downstream_gene_variant ESAD-UK 7 107406236 107406236 single base substitution T G downstream_gene_variant ESAD-UK 7 107406691 107406691 insertion of <=200bp - T downstream_gene_variant ESCA-CN 7 107398736 107398736 single base substitution G A 3_prime_UTR_variant ESCA-CN 7 107398736 107398736 single base substitution G A downstream_gene_variant ESCA-CN 7 107398736 107398736 single base substitution G A missense_variant V147I 439G>A ESCA-CN 7 107398736 107398736 single base substitution G A missense_variant V196I 586G>A ESCA-CN 7 107398736 107398736 single base substitution G A missense_variant V197I 589G>A KIRC-US 7 107393904 107393904 single base substitution A G 3_prime_UTR_variant KIRC-US 7 107393904 107393904 single base substitution A G downstream_gene_variant KIRC-US 7 107393904 107393904 single base substitution A G exon_variant KIRC-US 7 107393904 107393904 single base substitution A G missense_variant E27G 80A>G KIRC-US 7 107393904 107393904 single base substitution A G missense_variant E76G 227A>G KIRC-US 7 107393904 107393904 single base substitution A G missense_variant E77G 230A>G KIRC-US 7 107393906 107393906 single base substitution C G 3_prime_UTR_variant KIRC-US 7 107393906 107393906 single base substitution C G downstream_gene_variant KIRC-US 7 107393906 107393906 single base substitution C G exon_variant KIRC-US 7 107393906 107393906 single base substitution C G missense_variant L28V 82C>G KIRC-US 7 107393906 107393906 single base substitution C G missense_variant L77V 229C>G KIRC-US 7 107393906 107393906 single base substitution C G missense_variant L78V 232C>G KIRC-US 7 107395874 107395874 single base substitution G A 3_prime_UTR_variant KIRC-US 7 107395874 107395874 single base substitution G A downstream_gene_variant KIRC-US 7 107395874 107395874 single base substitution G A exon_variant KIRC-US 7 107395874 107395874 single base substitution G A intron_variant KIRC-US 7 107395874 107395874 single base substitution G A synonymous_variant K125K 375G>A KIRC-US 7 107395874 107395874 single base substitution G A synonymous_variant K126K 378G>A KIRC-US 7 107395874 107395874 single base substitution G A synonymous_variant K76K 228G>A KIRP-US 7 107393940 107393940 deletion of <=200bp T - 3_prime_UTR_variant KIRP-US 7 107393940 107393940 deletion of <=200bp T - downstream_gene_variant KIRP-US 7 107393940 107393940 deletion of <=200bp T - exon_variant KIRP-US 7 107393940 107393940 deletion of <=200bp T - frameshift_variant L39 KIRP-US 7 107393940 107393940 deletion of <=200bp T - frameshift_variant L88 KIRP-US 7 107393940 107393940 deletion of <=200bp T - frameshift_variant L89 KIRP-US 7 107398636 107398636 single base substitution C T 3_prime_UTR_variant KIRP-US 7 107398636 107398636 single base substitution C T downstream_gene_variant KIRP-US 7 107398636 107398636 single base substitution C T synonymous_variant L113L 339C>T KIRP-US 7 107398636 107398636 single base substitution C T synonymous_variant L162L 486C>T KIRP-US 7 107398636 107398636 single base substitution C T synonymous_variant L163L 489C>T LGG-US 7 107398758 107398758 single base substitution A G 3_prime_UTR_variant LGG-US 7 107398758 107398758 single base substitution A G downstream_gene_variant LGG-US 7 107398758 107398758 single base substitution A G missense_variant N154S 461A>G LGG-US 7 107398758 107398758 single base substitution A G missense_variant N203S 608A>G LGG-US 7 107398758 107398758 single base substitution A G missense_variant N204S 611A>G LINC-JP 7 107380436 107380436 single base substitution C T upstream_gene_variant LINC-JP 7 107389440 107389440 single base substitution A T 5_prime_UTR_variant LINC-JP 7 107389440 107389440 single base substitution A T exon_variant LINC-JP 7 107389440 107389440 single base substitution A T synonymous_variant R43R 129A>T LINC-JP 7 107389661 107389661 single base substitution A C exon_variant LINC-JP 7 107389661 107389661 single base substitution A C intron_variant LINC-JP 7 107391426 107391427 deletion of <=200bp TT - downstream_gene_variant LINC-JP 7 107391426 107391427 deletion of <=200bp TT - intron_variant LINC-JP 7 107400468 107400468 single base substitution C G 3_prime_UTR_variant LINC-JP 7 107400468 107400468 single base substitution C G downstream_gene_variant LINC-JP 7 107400638 107400638 single base substitution A G 3_prime_UTR_variant LINC-JP 7 107400638 107400638 single base substitution A G downstream_gene_variant LIRI-JP 7 107380314 107380314 single base substitution T C upstream_gene_variant LIRI-JP 7 107380372 107380372 single base substitution C A upstream_gene_variant LIRI-JP 7 107381777 107381777 deletion of <=200bp C - upstream_gene_variant LIRI-JP 7 107384036 107384036 single base substitution T C upstream_gene_variant LIRI-JP 7 107388133 107388133 single base substitution A G intron_variant LIRI-JP 7 107389275 107389275 single base substitution C G intron_variant LIRI-JP 7 107390373 107390373 single base substitution G A downstream_gene_variant LIRI-JP 7 107390373 107390373 single base substitution G A intron_variant LIRI-JP 7 107390589 107390589 single base substitution T G downstream_gene_variant LIRI-JP 7 107390589 107390589 single base substitution T G intron_variant LIRI-JP 7 107392735 107392735 single base substitution A G downstream_gene_variant LIRI-JP 7 107392735 107392735 single base substitution A G intron_variant LIRI-JP 7 107392762 107392762 single base substitution T G downstream_gene_variant LIRI-JP 7 107392762 107392762 single base substitution T G intron_variant LIRI-JP 7 107394619 107394619 insertion of <=200bp - T downstream_gene_variant LIRI-JP 7 107394619 107394619 insertion of <=200bp - T exon_variant LIRI-JP 7 107394619 107394619 insertion of <=200bp - T intron_variant LIRI-JP 7 107394906 107394906 single base substitution A G downstream_gene_variant LIRI-JP 7 107394906 107394906 single base substitution A G intron_variant LIRI-JP 7 107395128 107395128 single base substitution T G downstream_gene_variant LIRI-JP 7 107395128 107395128 single base substitution T G intron_variant LIRI-JP 7 107398711 107398711 single base substitution T C 3_prime_UTR_variant LIRI-JP 7 107398711 107398711 single base substitution T C downstream_gene_variant LIRI-JP 7 107398711 107398711 single base substitution T C synonymous_variant H138H 414T>C LIRI-JP 7 107398711 107398711 single base substitution T C synonymous_variant H187H 561T>C LIRI-JP 7 107398711 107398711 single base substitution T C synonymous_variant H188H 564T>C LIRI-JP 7 107399087 107399087 single base substitution G T downstream_gene_variant LIRI-JP 7 107399087 107399087 single base substitution G T missense_variant A264S 790G>T LIRI-JP 7 107399087 107399087 single base substitution G T missense_variant A313S 937G>T LIRI-JP 7 107399087 107399087 single base substitution G T missense_variant A314S 940G>T LIRI-JP 7 107399129 107399129 single base substitution G A downstream_gene_variant LIRI-JP 7 107399129 107399129 single base substitution G A missense_variant V278I 832G>A LIRI-JP 7 107399129 107399129 single base substitution G A missense_variant V327I 979G>A LIRI-JP 7 107399129 107399129 single base substitution G A missense_variant V328I 982G>A LIRI-JP 7 107399180 107399180 single base substitution C G downstream_gene_variant LIRI-JP 7 107399180 107399180 single base substitution C G missense_variant P295A 883C>G LIRI-JP 7 107399180 107399180 single base substitution C G missense_variant P344A 1030C>G LIRI-JP 7 107399180 107399180 single base substitution C G missense_variant P345A 1033C>G LIRI-JP 7 107400297 107400297 single base substitution T A 3_prime_UTR_variant LIRI-JP 7 107400297 107400297 single base substitution T A downstream_gene_variant LIRI-JP 7 107400358 107400358 single base substitution A T 3_prime_UTR_variant LIRI-JP 7 107400358 107400358 single base substitution A T downstream_gene_variant LIRI-JP 7 107400444 107400444 single base substitution C T 3_prime_UTR_variant LIRI-JP 7 107400444 107400444 single base substitution C T downstream_gene_variant LIRI-JP 7 107401450 107401450 single base substitution G A 3_prime_UTR_variant LIRI-JP 7 107401450 107401450 single base substitution G A downstream_gene_variant LIRI-JP 7 107402831 107402831 single base substitution A G downstream_gene_variant LIRI-JP 7 107404780 107404780 single base substitution A G downstream_gene_variant LIRI-JP 7 107405383 107405383 single base substitution T G downstream_gene_variant LIRI-JP 7 107406183 107406183 single base substitution A G downstream_gene_variant LIRI-JP 7 107407067 107407067 single base substitution T G downstream_gene_variant LUSC-KR 7 107380344 107380344 single base substitution C A upstream_gene_variant LUSC-KR 7 107399935 107399935 single base substitution A G 3_prime_UTR_variant LUSC-KR 7 107399935 107399935 single base substitution A G downstream_gene_variant LUSC-KR 7 107402784 107402784 single base substitution A G downstream_gene_variant LUSC-US 7 107398612 107398612 single base substitution T G 3_prime_UTR_variant LUSC-US 7 107398612 107398612 single base substitution T G downstream_gene_variant LUSC-US 7 107398612 107398612 single base substitution T G missense_variant I105M 315T>G LUSC-US 7 107398612 107398612 single base substitution T G missense_variant I154M 462T>G LUSC-US 7 107398612 107398612 single base substitution T G missense_variant I155M 465T>G LUSC-US 7 107398830 107398830 single base substitution A G 3_prime_UTR_variant LUSC-US 7 107398830 107398830 single base substitution A G downstream_gene_variant LUSC-US 7 107398830 107398830 single base substitution A G missense_variant H178R 533A>G LUSC-US 7 107398830 107398830 single base substitution A G missense_variant H227R 680A>G LUSC-US 7 107398830 107398830 single base substitution A G missense_variant H228R 683A>G LUSC-US 7 107398922 107398922 single base substitution G A 3_prime_UTR_variant LUSC-US 7 107398922 107398922 single base substitution G A downstream_gene_variant LUSC-US 7 107398922 107398922 single base substitution G A missense_variant D209N 625G>A LUSC-US 7 107398922 107398922 single base substitution G A missense_variant D258N 772G>A LUSC-US 7 107398922 107398922 single base substitution G A missense_variant D259N 775G>A LUSC-US 7 107399420 107399420 single base substitution A G downstream_gene_variant LUSC-US 7 107399420 107399420 single base substitution A G missense_variant N424D 1270A>G LUSC-US 7 107399420 107399420 single base substitution A G missense_variant N425D 1273A>G MALY-DE 7 107387522 107387522 insertion of <=200bp - A intron_variant MALY-DE 7 107389344 107389344 single base substitution T G 5_prime_UTR_variant MALY-DE 7 107389344 107389344 single base substitution T G exon_variant MALY-DE 7 107389344 107389344 single base substitution T G synonymous_variant T11T 33T>G MALY-DE 7 107390163 107390163 single base substitution T A downstream_gene_variant MALY-DE 7 107390163 107390163 single base substitution T A intron_variant MALY-DE 7 107390879 107390879 single base substitution T G downstream_gene_variant MALY-DE 7 107390879 107390879 single base substitution T G intron_variant MALY-DE 7 107394780 107394780 single base substitution A G downstream_gene_variant MALY-DE 7 107394780 107394780 single base substitution A G intron_variant MALY-DE 7 107397349 107397349 single base substitution G T downstream_gene_variant MALY-DE 7 107397349 107397349 single base substitution G T intron_variant MALY-DE 7 107405828 107405828 single base substitution C T downstream_gene_variant MELA-AU 7 107379520 107379520 single base substitution G A upstream_gene_variant MELA-AU 7 107379660 107379660 single base substitution C T upstream_gene_variant MELA-AU 7 107379831 107379831 single base substitution G A upstream_gene_variant MELA-AU 7 107379955 107379955 single base substitution A T upstream_gene_variant MELA-AU 7 107380209 107380209 single base substitution T C upstream_gene_variant MELA-AU 7 107380382 107380382 single base substitution G A upstream_gene_variant MELA-AU 7 107380442 107380442 single base substitution G A upstream_gene_variant MELA-AU 7 107380882 107380882 single base substitution T C upstream_gene_variant MELA-AU 7 107381071 107381071 single base substitution G A upstream_gene_variant MELA-AU 7 107381179 107381179 single base substitution G A upstream_gene_variant MELA-AU 7 107381216 107381216 single base substitution C G upstream_gene_variant MELA-AU 7 107381492 107381492 single base substitution A C upstream_gene_variant MELA-AU 7 107381848 107381848 single base substitution G A upstream_gene_variant MELA-AU 7 107381894 107381895 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 107382634 107382634 single base substitution C T upstream_gene_variant MELA-AU 7 107382650 107382650 single base substitution G A upstream_gene_variant MELA-AU 7 107382708 107382708 single base substitution C T upstream_gene_variant MELA-AU 7 107382828 107382828 single base substitution A T upstream_gene_variant MELA-AU 7 107383654 107383654 single base substitution C T upstream_gene_variant MELA-AU 7 107384448 107384448 single base substitution G A 5_prime_UTR_variant MELA-AU 7 107384448 107384448 single base substitution G A exon_variant MELA-AU 7 107384448 107384448 single base substitution G A upstream_gene_variant MELA-AU 7 107384918 107384918 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 7 107384918 107384918 single base substitution C T intron_variant MELA-AU 7 107385040 107385040 deletion of <=200bp C - 5_prime_UTR_variant MELA-AU 7 107385040 107385040 deletion of <=200bp C - intron_variant MELA-AU 7 107385118 107385118 single base substitution G A 5_prime_UTR_variant MELA-AU 7 107385118 107385118 single base substitution G A intron_variant MELA-AU 7 107386322 107386322 single base substitution G A intron_variant MELA-AU 7 107387216 107387216 single base substitution C T intron_variant MELA-AU 7 107387245 107387245 single base substitution C T intron_variant MELA-AU 7 107387583 107387583 single base substitution C T intron_variant MELA-AU 7 107387982 107387982 single base substitution G T intron_variant MELA-AU 7 107388427 107388427 single base substitution C T intron_variant MELA-AU 7 107388658 107388658 single base substitution T A intron_variant MELA-AU 7 107389191 107389191 single base substitution T C intron_variant MELA-AU 7 107389315 107389315 single base substitution C T intron_variant MELA-AU 7 107389494 107389494 single base substitution T A exon_variant MELA-AU 7 107389494 107389494 single base substitution T A splice_donor_variant MELA-AU 7 107390216 107390263 deletion of <=200bp AGAAACCTTTTAAAATTTTTGTTTTGATGTAAATTTATTTTAATTATG - downstream_gene_variant MELA-AU 7 107390216 107390263 deletion of <=200bp AGAAACCTTTTAAAATTTTTGTTTTGATGTAAATTTATTTTAATTATG - intron_variant MELA-AU 7 107390373 107390373 single base substitution G A downstream_gene_variant MELA-AU 7 107390373 107390373 single base substitution G A intron_variant MELA-AU 7 107390506 107390506 single base substitution C T downstream_gene_variant MELA-AU 7 107390506 107390506 single base substitution C T intron_variant MELA-AU 7 107390753 107390753 single base substitution G T downstream_gene_variant MELA-AU 7 107390753 107390753 single base substitution G T intron_variant MELA-AU 7 107390970 107390970 single base substitution C T downstream_gene_variant MELA-AU 7 107390970 107390970 single base substitution C T intron_variant MELA-AU 7 107391836 107391836 single base substitution G A downstream_gene_variant MELA-AU 7 107391836 107391836 single base substitution G A intron_variant MELA-AU 7 107392055 107392055 single base substitution C T downstream_gene_variant MELA-AU 7 107392055 107392055 single base substitution C T intron_variant MELA-AU 7 107392178 107392178 single base substitution C T downstream_gene_variant MELA-AU 7 107392178 107392178 single base substitution C T intron_variant MELA-AU 7 107392179 107392179 single base substitution C T downstream_gene_variant MELA-AU 7 107392179 107392179 single base substitution C T intron_variant MELA-AU 7 107392317 107392317 single base substitution C T downstream_gene_variant MELA-AU 7 107392317 107392317 single base substitution C T intron_variant MELA-AU 7 107392613 107392613 single base substitution C T downstream_gene_variant MELA-AU 7 107392613 107392613 single base substitution C T intron_variant MELA-AU 7 107392680 107392680 single base substitution C T downstream_gene_variant MELA-AU 7 107392680 107392680 single base substitution C T intron_variant MELA-AU 7 107392887 107392887 single base substitution C T downstream_gene_variant MELA-AU 7 107392887 107392887 single base substitution C T intron_variant MELA-AU 7 107393123 107393123 single base substitution G A downstream_gene_variant MELA-AU 7 107393123 107393123 single base substitution G A intron_variant MELA-AU 7 107393174 107393174 single base substitution C T downstream_gene_variant MELA-AU 7 107393174 107393174 single base substitution C T intron_variant MELA-AU 7 107393317 107393317 single base substitution T G downstream_gene_variant MELA-AU 7 107393317 107393317 single base substitution T G intron_variant MELA-AU 7 107393320 107393320 single base substitution A G downstream_gene_variant MELA-AU 7 107393320 107393320 single base substitution A G intron_variant MELA-AU 7 107393687 107393687 single base substitution C T downstream_gene_variant MELA-AU 7 107393687 107393687 single base substitution C T intron_variant MELA-AU 7 107393930 107393930 single base substitution C T 3_prime_UTR_variant MELA-AU 7 107393930 107393930 single base substitution C T downstream_gene_variant MELA-AU 7 107393930 107393930 single base substitution C T exon_variant MELA-AU 7 107393930 107393930 single base substitution C T missense_variant P36S 106C>T MELA-AU 7 107393930 107393930 single base substitution C T missense_variant P85S 253C>T MELA-AU 7 107393930 107393930 single base substitution C T missense_variant P86S 256C>T MELA-AU 7 107395917 107395917 single base substitution G A 3_prime_UTR_variant MELA-AU 7 107395917 107395917 single base substitution G A downstream_gene_variant MELA-AU 7 107395917 107395917 single base substitution G A exon_variant MELA-AU 7 107395917 107395917 single base substitution G A intron_variant MELA-AU 7 107395917 107395917 single base substitution G A missense_variant G140R 418G>A MELA-AU 7 107395917 107395917 single base substitution G A missense_variant G141R 421G>A MELA-AU 7 107395917 107395917 single base substitution G A missense_variant G91R 271G>A MELA-AU 7 107397808 107397808 single base substitution C T downstream_gene_variant MELA-AU 7 107397808 107397808 single base substitution C T intron_variant MELA-AU 7 107398598 107398598 single base substitution C T 3_prime_UTR_variant MELA-AU 7 107398598 107398598 single base substitution C T downstream_gene_variant MELA-AU 7 107398598 107398598 single base substitution C T missense_variant P101S 301C>T MELA-AU 7 107398598 107398598 single base substitution C T missense_variant P150S 448C>T MELA-AU 7 107398598 107398598 single base substitution C T missense_variant P151S 451C>T MELA-AU 7 107398877 107398877 single base substitution C T 3_prime_UTR_variant MELA-AU 7 107398877 107398877 single base substitution C T downstream_gene_variant MELA-AU 7 107398877 107398877 single base substitution C T missense_variant P194S 580C>T MELA-AU 7 107398877 107398877 single base substitution C T missense_variant P243S 727C>T MELA-AU 7 107398877 107398877 single base substitution C T missense_variant P244S 730C>T MELA-AU 7 107398950 107398950 single base substitution C T 3_prime_UTR_variant MELA-AU 7 107398950 107398950 single base substitution C T downstream_gene_variant MELA-AU 7 107398950 107398950 single base substitution C T missense_variant S218F 653C>T MELA-AU 7 107398950 107398950 single base substitution C T missense_variant S267F 800C>T MELA-AU 7 107398950 107398950 single base substitution C T missense_variant S268F 803C>T MELA-AU 7 107398975 107398975 single base substitution G T 3_prime_UTR_variant MELA-AU 7 107398975 107398975 single base substitution G T downstream_gene_variant MELA-AU 7 107398975 107398975 single base substitution G T synonymous_variant S226S 678G>T MELA-AU 7 107398975 107398975 single base substitution G T synonymous_variant S275S 825G>T MELA-AU 7 107398975 107398975 single base substitution G T synonymous_variant S276S 828G>T MELA-AU 7 107399438 107399438 single base substitution C T downstream_gene_variant MELA-AU 7 107399438 107399438 single base substitution C T stop_gained Q430* 1288C>T MELA-AU 7 107399438 107399438 single base substitution C T stop_gained Q431* 1291C>T MELA-AU 7 107399717 107399717 single base substitution C T 3_prime_UTR_variant MELA-AU 7 107399717 107399717 single base substitution C T downstream_gene_variant MELA-AU 7 107399861 107399861 single base substitution C T 3_prime_UTR_variant MELA-AU 7 107399861 107399861 single base substitution C T downstream_gene_variant MELA-AU 7 107399891 107399892 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 7 107399891 107399892 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 107400839 107400839 single base substitution C T 3_prime_UTR_variant MELA-AU 7 107400839 107400839 single base substitution C T downstream_gene_variant MELA-AU 7 107401273 107401273 single base substitution T G 3_prime_UTR_variant MELA-AU 7 107401273 107401273 single base substitution T G downstream_gene_variant MELA-AU 7 107401328 107401328 single base substitution C T 3_prime_UTR_variant MELA-AU 7 107401328 107401328 single base substitution C T downstream_gene_variant MELA-AU 7 107402046 107402046 single base substitution T A 3_prime_UTR_variant MELA-AU 7 107402046 107402046 single base substitution T A downstream_gene_variant MELA-AU 7 107402056 107402056 single base substitution G A 3_prime_UTR_variant MELA-AU 7 107402056 107402056 single base substitution G A downstream_gene_variant MELA-AU 7 107402623 107402623 single base substitution C T downstream_gene_variant MELA-AU 7 107402694 107402694 single base substitution C T downstream_gene_variant MELA-AU 7 107402946 107402946 single base substitution C T downstream_gene_variant MELA-AU 7 107403480 107403480 deletion of <=200bp T - downstream_gene_variant MELA-AU 7 107403497 107403497 single base substitution C T downstream_gene_variant MELA-AU 7 107404483 107404483 single base substitution C T downstream_gene_variant MELA-AU 7 107404844 107404844 single base substitution G A downstream_gene_variant MELA-AU 7 107404846 107404846 single base substitution G A downstream_gene_variant MELA-AU 7 107405029 107405029 single base substitution G T downstream_gene_variant MELA-AU 7 107405327 107405327 single base substitution G A downstream_gene_variant MELA-AU 7 107405482 107405482 single base substitution C T downstream_gene_variant MELA-AU 7 107406160 107406160 single base substitution G A downstream_gene_variant MELA-AU 7 107406803 107406803 single base substitution C T downstream_gene_variant MELA-AU 7 107407091 107407091 single base substitution C T downstream_gene_variant ORCA-IN 7 107379624 107379624 single base substitution C T upstream_gene_variant ORCA-IN 7 107386788 107386788 single base substitution G C intron_variant ORCA-IN 7 107387082 107387082 single base substitution G C intron_variant ORCA-IN 7 107387212 107387212 single base substitution G C intron_variant ORCA-IN 7 107387803 107387803 single base substitution G A intron_variant ORCA-IN 7 107405541 107405541 single base substitution C G downstream_gene_variant OV-AU 7 107380249 107380249 single base substitution G A upstream_gene_variant OV-AU 7 107382054 107382054 single base substitution G T upstream_gene_variant OV-AU 7 107392231 107392231 single base substitution C G downstream_gene_variant OV-AU 7 107392231 107392231 single base substitution C G intron_variant OV-AU 7 107394522 107394522 single base substitution C A downstream_gene_variant OV-AU 7 107394522 107394522 single base substitution C A exon_variant OV-AU 7 107394522 107394522 single base substitution C A intron_variant OV-AU 7 107399248 107399248 single base substitution G A downstream_gene_variant OV-AU 7 107399248 107399248 single base substitution G A synonymous_variant L317L 951G>A OV-AU 7 107399248 107399248 single base substitution G A synonymous_variant L366L 1098G>A OV-AU 7 107399248 107399248 single base substitution G A synonymous_variant L367L 1101G>A OV-AU 7 107402467 107402467 single base substitution G A downstream_gene_variant OV-AU 7 107404811 107404811 single base substitution C G downstream_gene_variant OV-US 7 107389401 107389401 single base substitution C T 5_prime_UTR_variant OV-US 7 107389401 107389401 single base substitution C T exon_variant OV-US 7 107389401 107389401 single base substitution C T synonymous_variant L30L 90C>T PACA-AU 7 107380317 107380317 single base substitution C T upstream_gene_variant PACA-AU 7 107387511 107387511 single base substitution T G intron_variant PACA-AU 7 107389438 107389438 single base substitution C T 5_prime_UTR_variant PACA-AU 7 107389438 107389438 single base substitution C T exon_variant PACA-AU 7 107389438 107389438 single base substitution C T stop_gained R43* 127C>T PACA-AU 7 107395467 107395467 single base substitution A G downstream_gene_variant PACA-AU 7 107395467 107395467 single base substitution A G intron_variant PACA-AU 7 107398288 107398288 single base substitution G T downstream_gene_variant PACA-AU 7 107398288 107398288 single base substitution G T intron_variant PACA-AU 7 107398707 107398707 single base substitution A G 3_prime_UTR_variant PACA-AU 7 107398707 107398707 single base substitution A G downstream_gene_variant PACA-AU 7 107398707 107398707 single base substitution A G missense_variant N137S 410A>G PACA-AU 7 107398707 107398707 single base substitution A G missense_variant N186S 557A>G PACA-AU 7 107398707 107398707 single base substitution A G missense_variant N187S 560A>G PACA-AU 7 107401345 107401345 single base substitution A G 3_prime_UTR_variant PACA-AU 7 107401345 107401345 single base substitution A G downstream_gene_variant PACA-AU 7 107404010 107404010 insertion of <=200bp - A downstream_gene_variant PACA-CA 7 107381593 107381593 single base substitution T C upstream_gene_variant PACA-CA 7 107382677 107382677 single base substitution C T upstream_gene_variant PACA-CA 7 107384918 107384918 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 7 107384918 107384918 single base substitution C T intron_variant PACA-CA 7 107385641 107385641 single base substitution T A intron_variant PACA-CA 7 107399838 107399838 single base substitution T C 3_prime_UTR_variant PACA-CA 7 107399838 107399838 single base substitution T C downstream_gene_variant PAEN-AU 7 107391855 107391855 single base substitution T G downstream_gene_variant PAEN-AU 7 107391855 107391855 single base substitution T G intron_variant PBCA-DE 7 107385633 107385633 insertion of <=200bp - T intron_variant PBCA-DE 7 107399656 107399656 deletion of <=200bp A - 3_prime_UTR_variant PBCA-DE 7 107399656 107399656 deletion of <=200bp A - downstream_gene_variant PRAD-UK 7 107385641 107385641 single base substitution T A intron_variant RECA-EU 7 107383514 107383514 single base substitution C A upstream_gene_variant RECA-EU 7 107388487 107388487 single base substitution A G intron_variant RECA-EU 7 107393044 107393044 single base substitution C G 3_prime_UTR_variant RECA-EU 7 107393044 107393044 single base substitution C G downstream_gene_variant RECA-EU 7 107393044 107393044 single base substitution C G intron_variant RECA-EU 7 107394948 107394948 single base substitution G C downstream_gene_variant RECA-EU 7 107394948 107394948 single base substitution G C intron_variant RECA-EU 7 107398873 107398873 single base substitution A G 3_prime_UTR_variant RECA-EU 7 107398873 107398873 single base substitution A G downstream_gene_variant RECA-EU 7 107398873 107398873 single base substitution A G synonymous_variant P192P 576A>G RECA-EU 7 107398873 107398873 single base substitution A G synonymous_variant P241P 723A>G RECA-EU 7 107398873 107398873 single base substitution A G synonymous_variant P242P 726A>G RECA-EU 7 107398885 107398885 single base substitution A G 3_prime_UTR_variant RECA-EU 7 107398885 107398885 single base substitution A G downstream_gene_variant RECA-EU 7 107398885 107398885 single base substitution A G synonymous_variant Q196Q 588A>G RECA-EU 7 107398885 107398885 single base substitution A G synonymous_variant Q245Q 735A>G RECA-EU 7 107398885 107398885 single base substitution A G synonymous_variant Q246Q 738A>G RECA-EU 7 107401902 107401902 single base substitution G T 3_prime_UTR_variant RECA-EU 7 107401902 107401902 single base substitution G T downstream_gene_variant SKCA-BR 7 107380614 107380643 deletion of <=200bp GTGGCAGCTGAGGTTAGGGTCAGGGGCCCT - upstream_gene_variant SKCA-BR 7 107380929 107380929 single base substitution G A upstream_gene_variant SKCA-BR 7 107381691 107381691 single base substitution A G upstream_gene_variant SKCA-BR 7 107382566 107382566 single base substitution A G upstream_gene_variant SKCA-BR 7 107382822 107382822 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 7 107385280 107385280 single base substitution C T intron_variant SKCA-BR 7 107385280 107385280 single base substitution C T splice_region_variant SKCA-BR 7 107386251 107386251 single base substitution C T intron_variant SKCA-BR 7 107390282 107390282 single base substitution C T downstream_gene_variant SKCA-BR 7 107390282 107390282 single base substitution C T intron_variant SKCA-BR 7 107390381 107390381 insertion of <=200bp - ATATT downstream_gene_variant SKCA-BR 7 107390381 107390381 insertion of <=200bp - ATATT intron_variant SKCA-BR 7 107390383 107390383 single base substitution T A downstream_gene_variant SKCA-BR 7 107390383 107390383 single base substitution T A intron_variant SKCA-BR 7 107391322 107391322 single base substitution C A downstream_gene_variant SKCA-BR 7 107391322 107391322 single base substitution C A intron_variant SKCA-BR 7 107392662 107392662 single base substitution G A downstream_gene_variant SKCA-BR 7 107392662 107392662 single base substitution G A intron_variant SKCA-BR 7 107396502 107396502 single base substitution G A downstream_gene_variant SKCA-BR 7 107396502 107396502 single base substitution G A intron_variant SKCA-BR 7 107397868 107397868 single base substitution C T downstream_gene_variant SKCA-BR 7 107397868 107397868 single base substitution C T intron_variant SKCA-BR 7 107399947 107399947 single base substitution T G 3_prime_UTR_variant SKCA-BR 7 107399947 107399947 single base substitution T G downstream_gene_variant SKCA-BR 7 107403442 107403442 single base substitution G A downstream_gene_variant SKCA-BR 7 107404570 107404570 single base substitution T A downstream_gene_variant SKCA-BR 7 107406547 107406547 single base substitution A T downstream_gene_variant SKCM-US 7 107389390 107389390 single base substitution C T 5_prime_UTR_variant SKCM-US 7 107389390 107389390 single base substitution C T exon_variant SKCM-US 7 107389390 107389390 single base substitution C T missense_variant P27S 79C>T SKCM-US 7 107393930 107393930 single base substitution C T 3_prime_UTR_variant SKCM-US 7 107393930 107393930 single base substitution C T downstream_gene_variant SKCM-US 7 107393930 107393930 single base substitution C T exon_variant SKCM-US 7 107393930 107393930 single base substitution C T missense_variant P36S 106C>T SKCM-US 7 107393930 107393930 single base substitution C T missense_variant P85S 253C>T SKCM-US 7 107393930 107393930 single base substitution C T missense_variant P86S 256C>T SKCM-US 7 107393942 107393942 single base substitution T A 3_prime_UTR_variant SKCM-US 7 107393942 107393942 single base substitution T A downstream_gene_variant SKCM-US 7 107393942 107393942 single base substitution T A exon_variant SKCM-US 7 107393942 107393942 single base substitution T A missense_variant F40I 118T>A SKCM-US 7 107393942 107393942 single base substitution T A missense_variant F89I 265T>A SKCM-US 7 107393942 107393942 single base substitution T A missense_variant F90I 268T>A SKCM-US 7 107395912 107395912 single base substitution A C 3_prime_UTR_variant SKCM-US 7 107395912 107395912 single base substitution A C downstream_gene_variant SKCM-US 7 107395912 107395912 single base substitution A C exon_variant SKCM-US 7 107395912 107395912 single base substitution A C intron_variant SKCM-US 7 107395912 107395912 single base substitution A C missense_variant K138T 413A>C SKCM-US 7 107395912 107395912 single base substitution A C missense_variant K139T 416A>C SKCM-US 7 107395912 107395912 single base substitution A C missense_variant K89T 266A>C SKCM-US 7 107398974 107398974 single base substitution C T 3_prime_UTR_variant SKCM-US 7 107398974 107398974 single base substitution C T downstream_gene_variant SKCM-US 7 107398974 107398974 single base substitution C T missense_variant S226L 677C>T SKCM-US 7 107398974 107398974 single base substitution C T missense_variant S275L 824C>T SKCM-US 7 107398974 107398974 single base substitution C T missense_variant S276L 827C>T SKCM-US 7 107399033 107399033 single base substitution C T downstream_gene_variant SKCM-US 7 107399033 107399033 single base substitution C T missense_variant P246S 736C>T SKCM-US 7 107399033 107399033 single base substitution C T missense_variant P295S 883C>T SKCM-US 7 107399033 107399033 single base substitution C T missense_variant P296S 886C>T SKCM-US 7 107399133 107399133 single base substitution C T downstream_gene_variant SKCM-US 7 107399133 107399133 single base substitution C T missense_variant S279L 836C>T SKCM-US 7 107399133 107399133 single base substitution C T missense_variant S328L 983C>T SKCM-US 7 107399133 107399133 single base substitution C T missense_variant S329L 986C>T SKCM-US 7 107399243 107399243 single base substitution C T downstream_gene_variant SKCM-US 7 107399243 107399243 single base substitution C T missense_variant H316Y 946C>T SKCM-US 7 107399243 107399243 single base substitution C T missense_variant H365Y 1093C>T SKCM-US 7 107399243 107399243 single base substitution C T missense_variant H366Y 1096C>T SKCM-US 7 107399438 107399438 single base substitution C T downstream_gene_variant SKCM-US 7 107399438 107399438 single base substitution C T stop_gained Q430* 1288C>T SKCM-US 7 107399438 107399438 single base substitution C T stop_gained Q431* 1291C>T SKCM-US 7 107399489 107399489 single base substitution G A downstream_gene_variant SKCM-US 7 107399489 107399489 single base substitution G A missense_variant G447R 1339G>A SKCM-US 7 107399489 107399489 single base substitution G A missense_variant G448R 1342G>A STAD-US 7 107395909 107395909 deletion of <=200bp A - 3_prime_UTR_variant STAD-US 7 107395909 107395909 deletion of <=200bp A - downstream_gene_variant STAD-US 7 107395909 107395909 deletion of <=200bp A - exon_variant STAD-US 7 107395909 107395909 deletion of <=200bp A - frameshift_variant E137 STAD-US 7 107395909 107395909 deletion of <=200bp A - frameshift_variant E138 STAD-US 7 107395909 107395909 deletion of <=200bp A - frameshift_variant E88 STAD-US 7 107395909 107395909 deletion of <=200bp A - intron_variant STAD-US 7 107398609 107398609 single base substitution A G 3_prime_UTR_variant STAD-US 7 107398609 107398609 single base substitution A G downstream_gene_variant STAD-US 7 107398609 107398609 single base substitution A G synonymous_variant R104R 312A>G STAD-US 7 107398609 107398609 single base substitution A G synonymous_variant R153R 459A>G STAD-US 7 107398609 107398609 single base substitution A G synonymous_variant R154R 462A>G STAD-US 7 107399250 107399250 single base substitution T C downstream_gene_variant STAD-US 7 107399250 107399250 single base substitution T C missense_variant V318A 953T>C STAD-US 7 107399250 107399250 single base substitution T C missense_variant V367A 1100T>C STAD-US 7 107399250 107399250 single base substitution T C missense_variant V368A 1103T>C STAD-US 7 107399357 107399357 single base substitution C T downstream_gene_variant STAD-US 7 107399357 107399357 single base substitution C T missense_variant P403S 1207C>T STAD-US 7 107399357 107399357 single base substitution C T missense_variant P404S 1210C>T STAD-US 7 107399402 107399402 deletion of <=200bp C - downstream_gene_variant STAD-US 7 107399402 107399402 deletion of <=200bp C - frameshift_variant P418 STAD-US 7 107399402 107399402 deletion of <=200bp C - frameshift_variant P419 THCA-SA 7 107395861 107395861 insertion of <=200bp - T downstream_gene_variant THCA-SA 7 107395861 107395861 insertion of <=200bp - T intron_variant THCA-SA 7 107395861 107395861 insertion of <=200bp - T splice_acceptor_variant THCA-SA 7 107401429 107401429 single base substitution A G 3_prime_UTR_variant THCA-SA 7 107401429 107401429 single base substitution A G downstream_gene_variant THCA-SA 7 107406299 107406299 single base substitution A G downstream_gene_variant UCEC-US 7 107389385 107389385 single base substitution G A 5_prime_UTR_variant UCEC-US 7 107389385 107389385 single base substitution G A exon_variant UCEC-US 7 107389385 107389385 single base substitution G A missense_variant R25Q 74G>A UCEC-US 7 107389424 107389424 single base substitution C T 5_prime_UTR_variant UCEC-US 7 107389424 107389424 single base substitution C T exon_variant UCEC-US 7 107389424 107389424 single base substitution C T missense_variant A38V 113C>T UCEC-US 7 107389448 107389448 single base substitution G T 5_prime_UTR_variant UCEC-US 7 107389448 107389448 single base substitution G T exon_variant UCEC-US 7 107389448 107389448 single base substitution G T missense_variant R46I 137G>T UCEC-US 7 107398623 107398623 single base substitution C T 3_prime_UTR_variant UCEC-US 7 107398623 107398623 single base substitution C T downstream_gene_variant UCEC-US 7 107398623 107398623 single base substitution C T missense_variant T109I 326C>T UCEC-US 7 107398623 107398623 single base substitution C T missense_variant T158I 473C>T UCEC-US 7 107398623 107398623 single base substitution C T missense_variant T159I 476C>T UCEC-US 7 107398714 107398714 single base substitution C T 3_prime_UTR_variant UCEC-US 7 107398714 107398714 single base substitution C T downstream_gene_variant UCEC-US 7 107398714 107398714 single base substitution C T synonymous_variant R139R 417C>T UCEC-US 7 107398714 107398714 single base substitution C T synonymous_variant R188R 564C>T UCEC-US 7 107398714 107398714 single base substitution C T synonymous_variant R189R 567C>T UCEC-US 7 107398718 107398718 single base substitution A G 3_prime_UTR_variant UCEC-US 7 107398718 107398718 single base substitution A G downstream_gene_variant UCEC-US 7 107398718 107398718 single base substitution A G missense_variant M141V 421A>G UCEC-US 7 107398718 107398718 single base substitution A G missense_variant M190V 568A>G UCEC-US 7 107398718 107398718 single base substitution A G missense_variant M191V 571A>G UCEC-US 7 107399203 107399203 single base substitution C A downstream_gene_variant UCEC-US 7 107399203 107399203 single base substitution C A missense_variant S302R 906C>A UCEC-US 7 107399203 107399203 single base substitution C A missense_variant S351R 1053C>A UCEC-US 7 107399203 107399203 single base substitution C A missense_variant S352R 1056C>A UCEC-US 7 107399643 107399643 single base substitution A T 3_prime_UTR_variant UCEC-US 7 107399643 107399643 single base substitution A T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SC_9049 COSM5564904 c.596G>A p.R199H Substitution - Missense 7:107758298-107758298 + TCGA-D9-A6EC-06 COSM4400721 c.986C>T p.S329L Substitution - Missense 7:107758688-107758688 + TCGA-A5-A0G9-01 COSM1083887 c.125C>T p.P42L Substitution - Missense 7:107748991-107748991 + LUAD_E00522 COSM353463 c.1366G>A p.A456T Substitution - Missense 7:107759068-107759068 + PR-09-2517 COSM243506 c.282+1G>C p.? Unknown 7:107753512-107753512 + B80-13-Tumor COSM1755012 c.307G>A p.D103N Substitution - Missense 7:107753919-107753919 + T3174 COSM4669534 c.655C>T p.R219C Substitution - Missense 7:107758357-107758357 + pfg017T COSM1643203 c.413delA p.K140fs*52 Deletion - Frameshift 7:107755464-107755464 + CHEWS030 COSM4587037 c.759T>C p.Y253Y Substitution - coding silent 7:107758461-107758461 + TCGA-AP-A059-01 COSM1083885 c.113C>T p.A38V Substitution - Missense 7:107748979-107748979 + 8058184 COSM3394453 c.560A>G p.N187S Substitution - Missense 7:107758262-107758262 + PD11464a COSM5770140 c.280C>G p.Q94E Substitution - Missense 7:107753509-107753509 + TCGA-AY-6197-01 COSM1447161 c.182-2A>G p.? Unknown 7:107753409-107753409 + Pat_41_B COSM5871504 c.622C>T p.P208S Substitution - Missense 7:107758324-107758324 + TCGA-DK-A2I6-01 COSM1312569 c.521G>A p.R174K Substitution - Missense 7:107758223-107758223 + B89-12 COSM1755013 c.868A>T p.S290C Substitution - Missense 7:107758570-107758570 + TCGA-23-1022-01 COSM75252 c.90C>T p.L30L Substitution - coding silent 7:107748956-107748956 + PT30 COSM5906592 c.1423C>T p.L475F Substitution - Missense 7:107759125-107759125 + WSU-HN30 COSM4600456 c.520A>G p.R174G Substitution - Missense 7:107758222-107758222 + ccRCC-43 COSM1660997 c.1124C>A p.P375Q Substitution - Missense 7:107758826-107758826 + YUWIA COSM5406187 c.1440T>C p.H480H Substitution - coding silent 7:107759142-107759142 + C709 COSM4444129 c.542A>G p.D181G Substitution - Missense 7:107758244-107758244 + TCGA-C5-A1BF-01 COSM4836683 c.202G>C p.E68Q Substitution - Missense 7:107753431-107753431 + HCC143 COSM1622191 c.129A>T p.R43R Substitution - coding silent 7:107748995-107748995 + HCC143T COSM1622191 c.129A>T p.R43R Substitution - coding silent 7:107748995-107748995 + B80-13 COSM1755012 c.307G>A p.D103N Substitution - Missense 7:107753919-107753919 + PT34 COSM5910555 c.938C>T p.P313L Substitution - Missense 7:107758640-107758640 + BD57T COSM1643203 c.413delA p.K140fs*52 Deletion - Frameshift 7:107755464-107755464 + CP66-MEL COSM23462 c.356A>C p.Y119S Substitution - Missense 7:107753968-107753968 + TCGA-A8-A0A6-01 COSM3831585 c.1224A>C p.P408P Substitution - coding silent 7:107758926-107758926 + CSCC-60-T COSM3631791 c.256C>T p.P86S Substitution - Missense 7:107753485-107753485 + Gp5D COSM3254870 c.26A>G p.Q9R Substitution - Missense 7:107748892-107748892 + B89-12-Tumor COSM1755013 c.868A>T p.S290C Substitution - Missense 7:107758570-107758570 + 2492723 COSM4901667 c.886C>T p.P296S Substitution - Missense 7:107758588-107758588 + 4_RESISTANT COSM1724484 c.1137_1138delTG p.A380fs*45 Deletion - Frameshift 7:107758839-107758840 + 2492722 COSM4901667 c.886C>T p.P296S Substitution - Missense 7:107758588-107758588 + CSCC-15-T COSM4457111 c.1033C>T p.P345S Substitution - Missense 7:107758735-107758735 + ESCC_BICR_014T COSM5436246 c.589G>A p.V197I Substitution - Missense 7:107758291-107758291 + SH-0622 COSM4611845 c.266delT p.W91fs*5 Deletion - Frameshift 7:107753495-107753495 + 51 COSM5014732 c.946G>T p.A316S Substitution - Missense 7:107758648-107758648 + T3080 COSM1643203 c.413delA p.K140fs*52 Deletion - Frameshift 7:107755464-107755464 + RK308_C01 COSM3745466 c.564T>C p.H188H Substitution - coding silent 7:107758266-107758266 + TCGA-A8-A0A6-01 COSM3831584 c.1188A>C p.P396P Substitution - coding silent 7:107758890-107758890 + TCGA-D1-A17U-01 COSM1083893 c.565C>T p.R189C Substitution - Missense 7:107758267-107758267 + PT37 COSM5919245 c.1201C>T p.H401Y Substitution - Missense 7:107758903-107758903 + HCT-116 COSM1673440 c.1364C>A p.P455H Substitution - Missense 7:107759066-107759066 + 2492721 COSM4901667 c.886C>T p.P296S Substitution - Missense 7:107758588-107758588 + TCGA-BR-8686-01 COSM3877055 c.1210C>T p.P404S Substitution - Missense 7:107758912-107758912 + Gp2D COSM4611845 c.266delT p.W91fs*5 Deletion - Frameshift 7:107753495-107753495 + Gp5D COSM4611845 c.266delT p.W91fs*5 Deletion - Frameshift 7:107753495-107753495 + YUFIT COSM5406186 c.823C>T p.R275* Substitution - Nonsense 7:107758525-107758525 + ME021T COSM225878 c.1424T>A p.L475H Substitution - Missense 7:107759126-107759126 + CCK81 COSM3254875 c.316G>T p.V106F Substitution - Missense 7:107753928-107753928 + TCGA-BP-4760-01 COSM1496467 c.1271A>T p.Y424F Substitution - Missense 7:107758973-107758973 + ESO-187 COSM1247397 c.1116T>G p.A372A Substitution - coding silent 7:107758818-107758818 + I2L-P7-Tumor-Organoid COSM5358405 c.1393C>T p.R465* Substitution - Nonsense 7:107759095-107759095 + TCGA-BP-4781-01 COSM3366721 c.378G>A p.K126K Substitution - coding silent 7:107755429-107755429 + P03-1334 COSM243505 c.101A>G p.Q34R Substitution - Missense 7:107748967-107748967 + TCGA-EE-A2MS-06 COSM3631790 c.79C>T p.P27S Substitution - Missense 7:107748945-107748945 + TCGA-B0-4718-01 COSM3366720 c.232C>G p.L78V Substitution - Missense 7:107753461-107753461 + SC_9096 COSM5562315 c.1158T>C p.P386P Substitution - coding silent 7:107758860-107758860 + LUAD-CHTN-MAD08-00104 COSM361299 c.812C>T p.P271L Substitution - Missense 7:107758514-107758514 + 8015299 COSM3784796 c.127C>T p.R43* Substitution - Nonsense 7:107748993-107748993 + SW480 COSM4655996 c.1262C>T p.P421L Substitution - Missense 7:107758964-107758964 + TCGA-GF-A6C9-06 COSM4901667 c.886C>T p.P296S Substitution - Missense 7:107758588-107758588 + TCGA-AP-A059-01 COSM1083889 c.137G>T p.R46I Substitution - Missense 7:107749003-107749003 + TCGA-B9-A5W8-01 COSM3995254 c.489C>T p.L163L Substitution - coding silent 7:107758191-107758191 + TCGA-AP-A051-01 COSM1083895 c.567C>T p.R189R Substitution - coding silent 7:107758269-107758269 + RK014_C01 COSM1635043 c.940G>T p.A314S Substitution - Missense 7:107758642-107758642 + WA46 COSM239168 c.697C>G p.P233A Substitution - Missense 7:107758399-107758399 + TCGA-AO-A128-01 COSM3831583 c.403A>G p.I135V Substitution - Missense 7:107755454-107755454 + 2492720 COSM4901667 c.886C>T p.P296S Substitution - Missense 7:107758588-107758588 + TCGA-DA-A1IA-06 COSM109499 c.1096C>T p.H366Y Substitution - Missense 7:107758798-107758798 + TCGA-43-3394-01 COSM744204 c.1273A>G p.N425D Substitution - Missense 7:107758975-107758975 + Pat_41_B COSM1643203 c.413delA p.K140fs*52 Deletion - Frameshift 7:107755464-107755464 + LUAD-LIP77 COSM342560 c.782G>T p.R261L Substitution - Missense 7:107758484-107758484 + RK065_C01 COSM1635044 c.982G>A p.V328I Substitution - Missense 7:107758684-107758684 + TCGA-66-2793-01 COSM744205 c.775G>A p.D259N Substitution - Missense 7:107758477-107758477 + TCGA-AA-3663-01 COSM1447166 c.1402G>T p.G468C Substitution - Missense 7:107759104-107759104 + TCGA-AX-A063-01 COSM1083897 c.571A>G p.M191V Substitution - Missense 7:107758273-107758273 + TCGA-61-2012-01 COSM78905 c.835C>T p.Q279* Substitution - Nonsense 7:107758537-107758537 + tumor_4120193 COSM3928019 c.33T>G p.T11T Substitution - coding silent 7:107748899-107748899 + Pat_14_B COSM1643203 c.413delA p.K140fs*52 Deletion - Frameshift 7:107755464-107755464 + TCGA-21-5786-01 COSM744207 c.465T>G p.I155M Substitution - Missense 7:107758167-107758167 + TCGA-D3-A3CB-06 COSM3631791 c.256C>T p.P86S Substitution - Missense 7:107753485-107753485 + 12T COSM109499 c.1096C>T p.H366Y Substitution - Missense 7:107758798-107758798 + STC291 COSM1643203 c.413delA p.K140fs*52 Deletion - Frameshift 7:107755464-107755464 + HT55 COSM3254874 c.309_310insA p.T104fs*7 Insertion - Frameshift 7:107753921-107753922 + TCGA-BR-8289-01 COSM3877054 c.1103T>C p.V368A Substitution - Missense 7:107758805-107758805 + YUKRIN COSM109499 c.1096C>T p.H366Y Substitution - Missense 7:107758798-107758798 + TCGA-HU-A4GX-01 COSM3877053 c.462A>G p.R154R Substitution - coding silent 7:107758164-107758164 + C0017T COSM3254881 c.726A>G p.P242P Substitution - coding silent 7:107758428-107758428 + TCGA-22-4613-01 COSM744206 c.683A>G p.H228R Substitution - Missense 7:107758385-107758385 + A6 COSM5351355 c.1005G>T p.M335I Substitution - Missense 7:107758707-107758707 + CRC-06T COSM5457287 c.847C>T p.R283C Substitution - Missense 7:107758549-107758549 + 824_T COSM3949717 c.1325C>A p.P442Q Substitution - Missense 7:107759027-107759027 + PT34 COSM5910556 c.937C>T p.P313S Substitution - Missense 7:107758639-107758639 + TCGA-EE-A29D-06 COSM3631794 c.1342G>A p.G448R Substitution - Missense 7:107759044-107759044 + TCGA-CJ-4894-01 COSM3366719 c.230A>G p.E77G Substitution - Missense 7:107753459-107753459 + YUROG COSM5406185 c.774G>A p.E258E Substitution - coding silent 7:107758476-107758476 + Pat_41_B COSM598469 c.1093C>T p.P365S Substitution - Missense 7:107758795-107758795 + S00501 COSM1643203 c.413delA p.K140fs*52 Deletion - Frameshift 7:107755464-107755464 + TCGA-DU-A5TP-01 COSM3928730 c.611A>G p.N204S Substitution - Missense 7:107758313-107758313 + DN12007 COSM5770140 c.280C>G p.Q94E Substitution - Missense 7:107753509-107753509 + YURED COSM1699162 c.1462_1463CC>TT p.P488L Substitution - Missense 7:107759164-107759165 + Pat_28_B COSM5871505 c.1156C>T p.P386S Substitution - Missense 7:107758858-107758858 + pfg068T COSM4759897 c.538A>G p.R180G Substitution - Missense 7:107758240-107758240 + HT115 COSM3254872 c.277T>G p.F93V Substitution - Missense 7:107753506-107753506 + LUAD_E01319 COSM390935 c.142A>G p.I48V Substitution - Missense 7:107749008-107749008 + C0017T COSM3254884 c.738A>G p.Q246Q Substitution - coding silent 7:107758440-107758440 + TCGA-EE-A2MD-06 COSM3631793 c.1291C>T p.Q431* Substitution - Nonsense 7:107758993-107758993 + PTC_221 COSM5960130 c.367-2_367-1insT p.? Unknown 7:107755416-107755417 + TCGA-B5-A11N-01 COSM1083883 c.74G>A p.R25Q Substitution - Missense 7:107748940-107748940 + TCGA-A8-A0A6-01 COSM3831586 c.1422A>C p.P474P Substitution - coding silent 7:107759124-107759124 + HCT116 COSM1673440 c.1364C>A p.P455H Substitution - Missense 7:107759066-107759066 + CSCC-16-T COSM4462670 c.1256C>T p.P419L Substitution - Missense 7:107758958-107758958 + NCI-H128 COSM23447 c.1119A>G p.P373P Substitution - coding silent 7:107758821-107758821 + CSCC-49-T COSM4573265 c.933_934TG>CT p.A312S Substitution - Missense 7:107758635-107758636 + PT19_1 COSM4901667 c.886C>T p.P296S Substitution - Missense 7:107758588-107758588 + TCGA-AP-A059-01 COSM1083899 c.1056C>A p.S352R Substitution - Missense 7:107758758-107758758 + RKO COSM4649042 c.1407G>A p.P469P Substitution - coding silent 7:107759109-107759109 + 420 COSM4432112 c.7C>T p.H3Y Substitution - Missense 7:107744170-107744170 + TCGA-EK-A2PM-01 COSM4831598 c.652G>C p.E218Q Substitution - Missense 7:107758354-107758354 + AOCS-168-1-8 COSM4153743 c.1101G>A p.L367L Substitution - coding silent 7:107758803-107758803 + TCGA-AP-A059-01 COSM1083891 c.476C>T p.T159I Substitution - Missense 7:107758178-107758178 + RK126_C01 COSM1635045 c.1033C>G p.P345A Substitution - Missense 7:107758735-107758735 + TCGA-29-1774-01 COSM1330188 c.531G>T p.L177F Substitution - Missense 7:107758233-107758233 + TCGA-B5-A11E-01 COSM1083885 c.113C>T p.A38V Substitution - Missense 7:107748979-107748979 + TCGA-D9-A6EC-06 COSM4401452 c.416A>C p.K139T Substitution - Missense 7:107755467-107755467 + TCGA-GF-A6C9-06 COSM4902457 c.827C>T p.S276L Substitution - Missense 7:107758529-107758529 + TCGA-EE-A2MR-06 COSM3631792 c.268T>A p.F90I Substitution - Missense 7:107753497-107753497 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.592271 7q22.3 606872

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.K140Rfs*52 c.419delA 7 107395909 STAD A G Missense p.E77G c.230A>G 7 107393904 RCCC A G Missense p.H228R c.683A>G 7 107398830 LUSC A G Missense p.M191V c.571A>G 7 107398718 UCEC A G Missense p.N425D c.1273A>G 7 107399420 LUSC A G Synonymous p.A265A c.795A>G 7 107398942 LUAD C G Missense p.L78V c.232C>G 7 107393906 RCCC C G Missense p.P345A c.1033C>G 7 107399180 HC C T Missense p.H366Y c.1096C>T 7 107399243 CM C T Missense p.P27S c.79C>T 7 107389390 CM C T Missense p.P365S c.1093C>T 7 107399240 LUAD C T Missense p.P441S c.1321C>T 7 107399468 CM C T Missense p.P86S c.256C>T 7 107393930 CM C T Nonsense p.Q279* c.835C>T 7 107398982 OV C T Nonsense p.Q431* c.1291C>T 7 107399438 CM C T Synonymous p.L30L c.90C>T 7 107389401 OV G A Missense p.D259N c.775G>A 7 107398922 LUSC G A Missense p.E203K c.607G>A 7 107398754 HNSC G A Missense p.R174K c.521G>A 7 107398668 BLCA G A Synonymous p.K126K c.378G>A 7 107395874 RCCC T A Missense p.L475H c.1424T>A 7 107399571 CM T C Missense p.L466S c.1397T>C 7 107399544 LUAD T G Missense p.I155M c.465T>G 7 107398612 LUSC T G Synonymous p.A372A c.1116T>G 7 107399263 ESCA