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 ACC 7 123269118 123269118 + Missense_Mutation SNP G G C TCGA-OR-A5L6-01A-11D-A29I-10 TCGA-OR-A5L6-10C-01D-A29L-10 g.chr7:123269118G>C c.1070G>C c.(1069-1071)gGc>gCc p.G357A ACC 7 123270074 123270074 + Missense_Mutation SNP C C A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr7:123270074C>A c.1495C>A c.(1495-1497)Cgt>Agt p.R499S BLCA 7 123267169 123267169 + Missense_Mutation SNP G G A TCGA-2F-A9KR-01A-11D-A38G-08 TCGA-2F-A9KR-10A-01D-A38J-08 g.chr7:123267169G>A c.703G>A c.(703-705)Gat>Aat p.D235N BLCA 7 123267238 123267238 + Missense_Mutation SNP T T A TCGA-FD-A5C1-01A-11D-A289-08 TCGA-FD-A5C1-10A-01D-A289-08 g.chr7:123267238T>A c.772T>A c.(772-774)Tgc>Agc p.C258S BLCA 7 123269135 123269135 + Missense_Mutation SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 g.chr7:123269135G>A c.1087G>A c.(1087-1089)Gtt>Att p.V363I BLCA 7 123269256 123269256 + Missense_Mutation SNP G G C TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr7:123269256G>C c.1208G>C c.(1207-1209)gGa>gCa p.G403A BLCA 7 123269344 123269344 + Silent SNP G G C TCGA-GU-A42P-01A-11D-A23U-08 TCGA-GU-A42P-10A-01D-A23U-08 g.chr7:123269344G>C c.1296G>C c.(1294-1296)ctG>ctC p.L432L BLCA 7 123269430 123269430 + Missense_Mutation SNP C C T TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr7:123269430C>T c.1382C>T c.(1381-1383)tCa>tTa p.S461L BRCA 7 123256326 123256326 + Splice_Site SNP A A G TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 g.chr7:123256326A>G c.159A>G c.(157-159)caA>caG p.Q53Q BRCA 7 123269363 123269363 + Missense_Mutation SNP G G A TCGA-E2-A10B-01A-11D-A10M-09 TCGA-E2-A10B-10A-01D-A10M-09 g.chr7:123269363G>A c.1315G>A c.(1315-1317)Ggc>Agc p.G439S CESC 7 123254659 123254659 + Nonsense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 g.chr7:123254659G>T c.103G>T c.(103-105)Gaa>Taa p.E35* CESC 7 123256536 123256536 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 g.chr7:123256536G>A c.279G>A c.(277-279)gaG>gaA p.E93E CESC 7 123264786 123264786 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 g.chr7:123264786G>A c.615G>A c.(613-615)ctG>ctA p.L205L CESC 7 123276930 123276930 + Silent SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr7:123276930C>G c.1662C>G c.(1660-1662)ctC>ctG p.L554L COAD 7 123256420 123256420 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr7:123256420C>A c.163C>A c.(163-165)Cac>Aac p.H55N COAD 7 123256505 123256505 + Missense_Mutation SNP C C T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr7:123256505C>T c.248C>T c.(247-249)gCt>gTt p.A83V COAD 7 123257756 123257757 + Frame_Shift_Ins INS - - A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:123257756_123257757insA c.416_417insA c.(415-420)acaaaafs p.TK139fs COAD 7 123264805 123264805 + Missense_Mutation SNP A A G TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr7:123264805A>G c.634A>G c.(634-636)Aca>Gca p.T212A COAD 7 123268961 123268961 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr7:123268961C>T c.913C>T c.(913-915)Cgg>Tgg p.R305W COAD 7 123269246 123269246 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr7:123269246C>A c.1198C>A c.(1198-1200)Ctc>Atc p.L400I COAD 7 123270021 123270021 + Splice_Site SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:123270021T>G c.1442T>G c.(1441-1443)tTc>tGc p.F481C COAD 7 123277013 123277013 + Missense_Mutation SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr7:123277013G>A c.1745G>A c.(1744-1746)gGa>gAa p.G582E COADREAD 7 123256420 123256420 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr7:123256420C>A c.163C>A c.(163-165)Cac>Aac p.H55N COADREAD 7 123256505 123256505 + Missense_Mutation SNP C C T TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr7:123256505C>T c.248C>T c.(247-249)gCt>gTt p.A83V COADREAD 7 123257756 123257757 + Frame_Shift_Ins INS - - A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:123257756_123257757insA c.416_417insA c.(415-420)acaaaafs p.TK139fs COADREAD 7 123264805 123264805 + Missense_Mutation SNP A A G TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr7:123264805A>G c.634A>G c.(634-636)Aca>Gca p.T212A COADREAD 7 123267185 123267185 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr7:123267185C>T c.719C>T c.(718-720)gCg>gTg p.A240V COADREAD 7 123268961 123268961 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr7:123268961C>T c.913C>T c.(913-915)Cgg>Tgg p.R305W COADREAD 7 123269246 123269246 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr7:123269246C>A c.1198C>A c.(1198-1200)Ctc>Atc p.L400I COADREAD 7 123270021 123270021 + Splice_Site SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:123270021T>G c.1442T>G c.(1441-1443)tTc>tGc p.F481C COADREAD 7 123277013 123277013 + Missense_Mutation SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr7:123277013G>A c.1745G>A c.(1744-1746)gGa>gAa p.G582E DLBC 7 123267200 123267200 + Missense_Mutation SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr7:123267200C>T c.734C>T c.(733-735)tCg>tTg p.S245L DLBC 7 123269280 123269280 + Missense_Mutation SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr7:123269280T>C c.1232T>C c.(1231-1233)aTg>aCg p.M411T ESCA 7 123264623 123264623 + Splice_Site SNP C C A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 g.chr7:123264623C>A c.452C>A c.(451-453)gCt>gAt p.A151D ESCA 7 123269135 123269135 + Missense_Mutation SNP G G A TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 g.chr7:123269135G>A c.1087G>A c.(1087-1089)Gtt>Att p.V363I GBM 7 123269046 123269046 + Missense_Mutation SNP A A G TCGA-14-0789-01A-01W-0424-08 TCGA-14-0789-10A-01W-0424-08 g.chr7:123269046A>G c.998A>G c.(997-999)gAt>gGt p.D333G GBM 7 123276864 123276864 + Splice_Site SNP G G A TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 g.chr7:123276864G>A c.1596G>A c.(1594-1596)gaG>gaA p.E532E GBMLGG 7 123267271 123267271 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:123267271G>A c.805G>A c.(805-807)Gga>Aga p.G269R GBMLGG 7 123269046 123269046 + Missense_Mutation SNP A A G TCGA-14-0789-01A-01W-0424-08 TCGA-14-0789-10A-01W-0424-08 g.chr7:123269046A>G c.998A>G c.(997-999)gAt>gGt p.D333G GBMLGG 7 123269087 123269088 + Frame_Shift_Del DEL GA GA - TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 g.chr7:123269087_123269088delGA c.1039_1040delGA c.(1039-1041)gacfs p.D348fs GBMLGG 7 123276864 123276864 + Splice_Site SNP G G A TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 g.chr7:123276864G>A c.1596G>A c.(1594-1596)gaG>gaA p.E532E HNSC 7 123267298 123267298 + Missense_Mutation SNP C C A TCGA-CQ-6225-01A-11D-1912-08 TCGA-CQ-6225-10A-01D-1912-08 g.chr7:123267298C>A c.832C>A c.(832-834)Ctt>Att p.L278I HNSC 7 123269039 123269039 + Missense_Mutation SNP G G T TCGA-CN-A641-01A-11D-A30E-08 TCGA-CN-A641-10A-01D-A30H-08 g.chr7:123269039G>T c.991G>T c.(991-993)Ggt>Tgt p.G331C HNSC 7 123269113 123269113 + Frame_Shift_Del DEL T T - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr7:123269113delT c.1065delT c.(1063-1065)tatfs p.Y355fs HNSC 7 123269291 123269291 + Missense_Mutation SNP G G C TCGA-CQ-6225-01A-11D-1912-08 TCGA-CQ-6225-10A-01D-1912-08 g.chr7:123269291G>C c.1243G>C c.(1243-1245)Gac>Cac p.D415H HNSC 7 123270074 123270074 + Missense_Mutation SNP C C T TCGA-P3-A5QF-01A-11D-A28R-08 TCGA-P3-A5QF-10A-01D-A28U-08 g.chr7:123270074C>T c.1495C>T c.(1495-1497)Cgt>Tgt p.R499C HNSC 7 123270163 123270163 + Silent SNP C C A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 g.chr7:123270163C>A c.1584C>A c.(1582-1584)cgC>cgA p.R528R KICH 7 123254584 123254584 + Missense_Mutation SNP G G C TCGA-KL-8339-01A-11D-2310-10 TCGA-KL-8339-11A-01D-2310-10 g.chr7:123254584G>C c.28G>C c.(28-30)Gac>Cac p.D10H KIPAN 7 123254584 123254584 + Missense_Mutation SNP G G C TCGA-KL-8339-01A-11D-2310-10 TCGA-KL-8339-11A-01D-2310-10 g.chr7:123254584G>C c.28G>C c.(28-30)Gac>Cac p.D10H KIPAN 7 123257653 123257653 + Nonsense_Mutation SNP G G T TCGA-B0-4844-01A-01D-1361-10 TCGA-B0-4844-11A-01D-1361-10 g.chr7:123257653G>T c.313G>T c.(313-315)Gaa>Taa p.E105* KIPAN 7 123264837 123264837 + Missense_Mutation SNP C C A TCGA-B3-3925-01A-01D-1458-08 TCGA-B3-3925-10A-01D-1458-08 g.chr7:123264837C>A c.666C>A c.(664-666)caC>caA p.H222Q KIPAN 7 123267202 123267202 + Missense_Mutation SNP G G T TCGA-CZ-5468-01A-01D-1501-10 TCGA-CZ-5468-11A-01D-1501-10 g.chr7:123267202G>T c.736G>T c.(736-738)Gtg>Ttg p.V246L KIRC 7 123257653 123257653 + Nonsense_Mutation SNP G G T TCGA-B0-4844-01A-01D-1361-10 TCGA-B0-4844-11A-01D-1361-10 g.chr7:123257653G>T c.313G>T c.(313-315)Gaa>Taa p.E105* KIRC 7 123267202 123267202 + Missense_Mutation SNP G G T TCGA-CZ-5468-01A-01D-1501-10 TCGA-CZ-5468-11A-01D-1501-10 g.chr7:123267202G>T c.736G>T c.(736-738)Gtg>Ttg p.V246L KIRP 7 123264837 123264837 + Missense_Mutation SNP C C A TCGA-B3-3925-01A-01D-1458-08 TCGA-B3-3925-10A-01D-1458-08 g.chr7:123264837C>A c.666C>A c.(664-666)caC>caA p.H222Q LAML 7 123269106 123269106 + Missense_Mutation SNP C C T TCGA-AB-2888-03A-01W-0732-08 TCGA-AB-2888-11A-01W-0732-08 g.chr7:123269106C>T c.1058C>T c.(1057-1059)gCg>gTg p.A353V LGG 7 123267271 123267271 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:123267271G>A c.805G>A c.(805-807)Gga>Aga p.G269R LGG 7 123269087 123269088 + Frame_Shift_Del DEL GA GA - TCGA-HT-A619-01A-11D-A29Q-08 TCGA-HT-A619-10A-01D-A29Q-08 g.chr7:123269087_123269088delGA c.1039_1040delGA c.(1039-1041)gacfs p.D348fs LIHC 7 123269106 123269106 + Missense_Mutation SNP C C T TCGA-LG-A6GG-01A-11D-A30V-10 TCGA-LG-A6GG-10A-01D-A30V-10 g.chr7:123269106C>T c.1058C>T c.(1057-1059)gCg>gTg p.A353V LIHC 7 123270025 123270025 + Silent SNP T T C TCGA-CC-5258-01A-01D-A12Z-10 TCGA-CC-5258-10A-01D-A12Z-10 g.chr7:123270025T>C c.1446T>C c.(1444-1446)tgT>tgC p.C482C LUAD 7 123256508 123256508 + Missense_Mutation SNP T T A TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chr7:123256508T>A c.251T>A c.(250-252)gTt>gAt p.V84D LUAD 7 123257663 123257663 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr7:123257663C>A c.323C>A c.(322-324)aCc>aAc p.T108N LUAD 7 123257664 123257664 + Silent SNP C C A TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr7:123257664C>A c.324C>A c.(322-324)acC>acA p.T108T LUAD 7 123257734 123257734 + Nonsense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr7:123257734G>T c.394G>T c.(394-396)Gaa>Taa p.E132* LUAD 7 123257754 123257754 + Missense_Mutation SNP C C A TCGA-55-8299-01A-11D-2284-08 TCGA-55-8299-10B-01D-2323-08 g.chr7:123257754C>A c.414C>A c.(412-414)aaC>aaA p.N138K LUAD 7 123264718 123264718 + Nonsense_Mutation SNP G G T TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chr7:123264718G>T c.547G>T c.(547-549)Gaa>Taa p.E183* LUAD 7 123267195 123267195 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr7:123267195G>T c.729G>T c.(727-729)ggG>ggT p.G243G LUAD 7 123267198 123267198 + Silent SNP G G T TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr7:123267198G>T c.732G>T c.(730-732)gcG>gcT p.A244A LUAD 7 123268939 123268939 + Silent SNP A A T TCGA-64-5815-01A-01D-1625-08 TCGA-64-5815-10A-01D-1625-08 g.chr7:123268939A>T c.891A>T c.(889-891)ccA>ccT p.P297P LUAD 7 123269106 123269106 + Missense_Mutation SNP C C T TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 g.chr7:123269106C>T c.1058C>T c.(1057-1059)gCg>gTg p.A353V LUAD 7 123269175 123269175 + Missense_Mutation SNP C C A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 g.chr7:123269175C>A c.1127C>A c.(1126-1128)cCa>cAa p.P376Q LUAD 7 123269238 123269238 + Missense_Mutation SNP G G T TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr7:123269238G>T c.1190G>T c.(1189-1191)aGg>aTg p.R397M LUAD 7 123269434 123269434 + Silent SNP G G A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr7:123269434G>A c.1386G>A c.(1384-1386)gaG>gaA p.E462E LUAD 7 123276869 123276869 + Missense_Mutation SNP C C A TCGA-78-8660-01A-11D-2393-08 TCGA-78-8660-10A-01D-2393-08 g.chr7:123276869C>A c.1601C>A c.(1600-1602)cCt>cAt p.P534H LUSC 7 123256317 123256317 + Silent SNP C C A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 g.chr7:123256317C>A c.150C>A c.(148-150)gcC>gcA p.A50A LUSC 7 123270074 123270074 + Missense_Mutation SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr7:123270074C>A c.1495C>A c.(1495-1497)Cgt>Agt p.R499S PAAD 7 123269055 123269055 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:123269055C>T c.1007C>T c.(1006-1008)aCt>aTt p.T336I PAAD 7 123269090 123269090 + Missense_Mutation SNP G G A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr7:123269090G>A c.1042G>A c.(1042-1044)Gat>Aat p.D348N PAAD 7 123269120 123269120 + Missense_Mutation SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 g.chr7:123269120G>A c.1072G>A c.(1072-1074)Gtt>Att p.V358I PAAD 7 123269160 123269160 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:123269160C>A c.1112C>A c.(1111-1113)gCt>gAt p.A371D PRAD 7 123256478 123256478 + Frame_Shift_Del DEL A A - TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr7:123256478delA c.221delA c.(220-222)gaafs p.E74fs PRAD 7 123269122 123269122 + Silent SNP T T C TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 g.chr7:123269122T>C c.1074T>C c.(1072-1074)gtT>gtC p.V358V PRAD 7 123269330 123269330 + Missense_Mutation SNP G G A TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 g.chr7:123269330G>A c.1282G>A c.(1282-1284)Gac>Aac p.D428N READ 7 123267185 123267185 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr7:123267185C>T c.719C>T c.(718-720)gCg>gTg p.A240V SKCM 7 123254628 123254628 + Silent SNP C C T TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr7:123254628C>T c.72C>T c.(70-72)tcC>tcT p.S24S SKCM 7 123256545 123256545 + Silent SNP G G A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 g.chr7:123256545G>A c.288G>A c.(286-288)ctG>ctA p.L96L SKCM 7 123257651 123257651 + Nonsense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr7:123257651G>A c.311G>A c.(310-312)tGg>tAg p.W104* SKCM 7 123257671 123257671 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr7:123257671G>A c.331G>A c.(331-333)Gga>Aga p.G111R SKCM 7 123257713 123257713 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr7:123257713G>A c.373G>A c.(373-375)Gaa>Aaa p.E125K SKCM 7 123257740 123257740 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr7:123257740G>A c.400G>A c.(400-402)Gga>Aga p.G134R SKCM 7 123264718 123264718 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr7:123264718G>A c.547G>A c.(547-549)Gaa>Aaa p.E183K SKCM 7 123264737 123264737 + Missense_Mutation SNP G G A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 g.chr7:123264737G>A c.566G>A c.(565-567)cGa>cAa p.R189Q SKCM 7 123264747 123264747 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:123264747C>T c.576C>T c.(574-576)atC>atT p.I192I SKCM 7 123264794 123264794 + Missense_Mutation SNP G G A TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr7:123264794G>A c.623G>A c.(622-624)gGa>gAa p.G208E SKCM 7 123264798 123264798 + Silent SNP T T C TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr7:123264798T>C c.627T>C c.(625-627)ttT>ttC p.F209F SKCM 7 123264837 123264837 + Silent SNP C C T TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr7:123264837C>T c.666C>T c.(664-666)caC>caT p.H222H SKCM 7 123267179 123267179 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:123267179C>T c.713C>T c.(712-714)gCt>gTt p.A238V SKCM 7 123267276 123267276 + Missense_Mutation SNP T T G TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr7:123267276T>G c.810T>G c.(808-810)aaT>aaG p.N270K SKCM 7 123267301 123267301 + Missense_Mutation SNP C C T TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chr7:123267301C>T c.835C>T c.(835-837)Cct>Tct p.P279S SKCM 7 123267301 123267301 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr7:123267301C>T c.835C>T c.(835-837)Cct>Tct p.P279S SKCM 7 123267311 123267311 + Missense_Mutation SNP G G A TCGA-D3-A2J7-06A-11D-A196-08 TCGA-D3-A2J7-10A-01D-A198-08 g.chr7:123267311G>A c.845G>A c.(844-846)cGa>cAa p.R282Q SKCM 7 123268983 123268983 + Missense_Mutation SNP T T G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr7:123268983T>G c.935T>G c.(934-936)aTt>aGt p.I312S SKCM 7 123269101 123269101 + Missense_Mutation SNP G G C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 g.chr7:123269101G>C c.1053G>C c.(1051-1053)aaG>aaC p.K351N SKCM 7 123269153 123269153 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr7:123269153C>T c.1105C>T c.(1105-1107)Ctt>Ttt p.L369F SKCM 7 123269216 123269216 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr7:123269216G>A c.1168G>A c.(1168-1170)Gcc>Acc p.A390T SKCM 7 123269336 123269336 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr7:123269336G>A c.1288G>A c.(1288-1290)Gta>Ata p.V430I SKCM 7 123270074 123270074 + Missense_Mutation SNP C C T TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr7:123270074C>T c.1495C>T c.(1495-1497)Cgt>Tgt p.R499C SKCM 7 123270105 123270105 + Missense_Mutation SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr7:123270105C>T c.1526C>T c.(1525-1527)cCt>cTt p.P509L SKCM 7 123270144 123270144 + Missense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr7:123270144G>A c.1565G>A c.(1564-1566)aGa>aAa p.R522K SKCM 7 123270153 123270153 + Missense_Mutation SNP C C A TCGA-DA-A1I0-06A-11D-A20D-08 TCGA-DA-A1I0-10B-01D-A20D-08 g.chr7:123270153C>A c.1574C>A c.(1573-1575)cCa>cAa p.P525Q SKCM 7 123276868 123276868 + Missense_Mutation SNP C C T TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr7:123276868C>T c.1600C>T c.(1600-1602)Cct>Tct p.P534S SKCM 7 123277008 123277008 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr7:123277008C>T c.1740C>T c.(1738-1740)ctC>ctT p.L580L SKCM 7 123277012 123277012 + Missense_Mutation SNP G G A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 g.chr7:123277012G>A c.1744G>A c.(1744-1746)Gga>Aga p.G582R

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 123269387 123269387 single base substitution G C downstream_gene_variant BLCA-CN 7 123269387 123269387 single base substitution G C missense_variant D447H 1339G>C BLCA-US 7 123269135 123269135 single base substitution G A downstream_gene_variant BLCA-US 7 123269135 123269135 single base substitution G A missense_variant V363I 1087G>A BOCA-FR 7 123264550 123264550 single base substitution A T intron_variant BRCA-EU 7 123203028 123203028 single base substitution T C upstream_gene_variant BRCA-EU 7 123203362 123203362 single base substitution G T upstream_gene_variant BRCA-EU 7 123203831 123203831 single base substitution C A upstream_gene_variant BRCA-EU 7 123203984 123203984 single base substitution G A upstream_gene_variant BRCA-EU 7 123204584 123204584 single base substitution A C upstream_gene_variant BRCA-EU 7 123204667 123204667 insertion of <=200bp - TG upstream_gene_variant BRCA-EU 7 123205796 123205796 single base substitution G A upstream_gene_variant BRCA-EU 7 123205896 123205896 single base substitution C G upstream_gene_variant BRCA-EU 7 123207176 123207176 single base substitution A T intron_variant BRCA-EU 7 123208025 123208025 single base substitution T A intron_variant BRCA-EU 7 123208443 123208443 single base substitution G A intron_variant BRCA-EU 7 123208653 123208653 single base substitution C T intron_variant BRCA-EU 7 123208920 123208920 deletion of <=200bp A - intron_variant BRCA-EU 7 123209457 123209457 deletion of <=200bp A - intron_variant BRCA-EU 7 123209518 123209518 single base substitution G C intron_variant BRCA-EU 7 123210477 123210477 single base substitution G A intron_variant BRCA-EU 7 123210667 123210667 single base substitution G A intron_variant BRCA-EU 7 123210782 123210782 single base substitution C T intron_variant BRCA-EU 7 123211286 123211286 single base substitution A T intron_variant BRCA-EU 7 123212007 123212007 single base substitution A G intron_variant BRCA-EU 7 123214263 123214263 single base substitution T C intron_variant BRCA-EU 7 123214825 123214825 single base substitution G C intron_variant BRCA-EU 7 123215191 123215191 single base substitution G C intron_variant BRCA-EU 7 123215291 123215291 single base substitution C T intron_variant BRCA-EU 7 123215440 123215440 single base substitution T C intron_variant BRCA-EU 7 123217727 123217727 single base substitution C G intron_variant BRCA-EU 7 123217748 123217748 single base substitution C T intron_variant BRCA-EU 7 123218139 123218139 single base substitution C T intron_variant BRCA-EU 7 123218308 123218308 deletion of <=200bp A - intron_variant BRCA-EU 7 123218965 123218965 single base substitution T C intron_variant BRCA-EU 7 123218977 123218977 single base substitution T G intron_variant BRCA-EU 7 123220278 123220278 single base substitution T G intron_variant BRCA-EU 7 123221328 123221328 deletion of <=200bp T - intron_variant BRCA-EU 7 123221346 123221346 single base substitution C T intron_variant BRCA-EU 7 123221422 123221422 single base substitution G C intron_variant BRCA-EU 7 123222330 123222330 single base substitution G C intron_variant BRCA-EU 7 123222529 123222529 single base substitution A G intron_variant BRCA-EU 7 123222599 123222599 single base substitution C T intron_variant BRCA-EU 7 123222624 123222624 single base substitution G C intron_variant BRCA-EU 7 123224062 123224062 single base substitution C T intron_variant BRCA-EU 7 123225044 123225044 single base substitution C G intron_variant BRCA-EU 7 123228426 123228426 single base substitution G A intron_variant BRCA-EU 7 123229968 123229968 single base substitution G T intron_variant BRCA-EU 7 123230414 123230414 single base substitution C G intron_variant BRCA-EU 7 123230538 123230538 single base substitution G C intron_variant BRCA-EU 7 123231400 123231400 single base substitution A C intron_variant BRCA-EU 7 123231674 123231674 single base substitution G A intron_variant BRCA-EU 7 123232714 123232714 single base substitution C T intron_variant BRCA-EU 7 123232798 123232798 single base substitution A T intron_variant BRCA-EU 7 123233625 123233625 deletion of <=200bp T - intron_variant BRCA-EU 7 123233879 123233879 single base substitution T A intron_variant BRCA-EU 7 123234331 123234331 single base substitution C T intron_variant BRCA-EU 7 123234985 123234985 single base substitution G C intron_variant BRCA-EU 7 123236190 123236190 single base substitution C T intron_variant BRCA-EU 7 123238450 123238450 single base substitution C T intron_variant BRCA-EU 7 123238450 123238450 single base substitution C T upstream_gene_variant BRCA-EU 7 123240213 123240213 single base substitution G C intron_variant BRCA-EU 7 123240213 123240213 single base substitution G C upstream_gene_variant BRCA-EU 7 123240558 123240558 deletion of <=200bp A - intron_variant BRCA-EU 7 123240558 123240558 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 123242196 123242196 deletion of <=200bp A - intron_variant BRCA-EU 7 123242308 123242308 single base substitution A T intron_variant BRCA-EU 7 123242555 123242555 single base substitution T C intron_variant BRCA-EU 7 123243382 123243382 single base substitution T C intron_variant BRCA-EU 7 123244764 123244764 single base substitution G T intron_variant BRCA-EU 7 123244764 123244764 single base substitution G T upstream_gene_variant BRCA-EU 7 123245137 123245137 single base substitution G A intron_variant BRCA-EU 7 123245137 123245137 single base substitution G A upstream_gene_variant BRCA-EU 7 123245740 123245740 single base substitution C T intron_variant BRCA-EU 7 123245740 123245740 single base substitution C T upstream_gene_variant BRCA-EU 7 123245908 123245908 single base substitution A C intron_variant BRCA-EU 7 123245908 123245908 single base substitution A C upstream_gene_variant BRCA-EU 7 123246127 123246127 single base substitution G A intron_variant BRCA-EU 7 123246127 123246127 single base substitution G A upstream_gene_variant BRCA-EU 7 123246471 123246471 single base substitution G A intron_variant BRCA-EU 7 123246471 123246471 single base substitution G A upstream_gene_variant BRCA-EU 7 123246491 123246491 single base substitution G A intron_variant BRCA-EU 7 123246491 123246491 single base substitution G A upstream_gene_variant BRCA-EU 7 123246537 123246537 single base substitution G C intron_variant BRCA-EU 7 123246537 123246537 single base substitution G C upstream_gene_variant BRCA-EU 7 123247812 123247812 single base substitution A T intron_variant BRCA-EU 7 123247812 123247812 single base substitution A T upstream_gene_variant BRCA-EU 7 123248184 123248184 single base substitution C T intron_variant BRCA-EU 7 123248184 123248184 single base substitution C T upstream_gene_variant BRCA-EU 7 123249327 123249327 single base substitution C A intron_variant BRCA-EU 7 123250250 123250250 single base substitution C G intron_variant BRCA-EU 7 123250841 123250844 deletion of <=200bp ATTT - intron_variant BRCA-EU 7 123251187 123251187 single base substitution G C intron_variant BRCA-EU 7 123251552 123251552 single base substitution G A intron_variant BRCA-EU 7 123251800 123251800 single base substitution C T intron_variant BRCA-EU 7 123251976 123251976 single base substitution G C intron_variant BRCA-EU 7 123252391 123252391 single base substitution G C 5_prime_UTR_variant BRCA-EU 7 123252391 123252391 single base substitution G C intron_variant BRCA-EU 7 123252713 123252713 single base substitution G T intron_variant BRCA-EU 7 123253643 123253643 single base substitution G C intron_variant BRCA-EU 7 123254834 123254834 single base substitution G C intron_variant BRCA-EU 7 123254951 123254951 single base substitution G T intron_variant BRCA-EU 7 123256465 123256465 single base substitution G T missense_variant D70Y 208G>T BRCA-EU 7 123256746 123256746 single base substitution C T downstream_gene_variant BRCA-EU 7 123256746 123256746 single base substitution C T intron_variant BRCA-EU 7 123257617 123257617 single base substitution T C downstream_gene_variant BRCA-EU 7 123257617 123257617 single base substitution T C intron_variant BRCA-EU 7 123257725 123257725 single base substitution A T downstream_gene_variant BRCA-EU 7 123257725 123257725 single base substitution A T missense_variant T129S 385A>T BRCA-EU 7 123259063 123259063 single base substitution A T downstream_gene_variant BRCA-EU 7 123259063 123259063 single base substitution A T intron_variant BRCA-EU 7 123259809 123259809 single base substitution C T downstream_gene_variant BRCA-EU 7 123259809 123259809 single base substitution C T intron_variant BRCA-EU 7 123260240 123260240 single base substitution T A downstream_gene_variant BRCA-EU 7 123260240 123260240 single base substitution T A intron_variant BRCA-EU 7 123260341 123260341 single base substitution A T downstream_gene_variant BRCA-EU 7 123260341 123260341 single base substitution A T intron_variant BRCA-EU 7 123261972 123261972 single base substitution C T intron_variant BRCA-EU 7 123264856 123264856 single base substitution C A missense_variant L229I 685C>A BRCA-EU 7 123265866 123265866 single base substitution C G intron_variant BRCA-EU 7 123268346 123268346 single base substitution G C downstream_gene_variant BRCA-EU 7 123268346 123268346 single base substitution G C intron_variant BRCA-EU 7 123269612 123269612 single base substitution A C downstream_gene_variant BRCA-EU 7 123269612 123269612 single base substitution A C intron_variant BRCA-EU 7 123270402 123270402 single base substitution A T downstream_gene_variant BRCA-EU 7 123270402 123270402 single base substitution A T intron_variant BRCA-EU 7 123270455 123270455 single base substitution C T downstream_gene_variant BRCA-EU 7 123270455 123270455 single base substitution C T intron_variant BRCA-EU 7 123270485 123270485 single base substitution T C downstream_gene_variant BRCA-EU 7 123270485 123270485 single base substitution T C intron_variant BRCA-EU 7 123270572 123270572 single base substitution C G downstream_gene_variant BRCA-EU 7 123270572 123270572 single base substitution C G intron_variant BRCA-EU 7 123271908 123271908 single base substitution G A downstream_gene_variant BRCA-EU 7 123271908 123271908 single base substitution G A intron_variant BRCA-EU 7 123276961 123276961 single base substitution C G missense_variant L565V 1693C>G BRCA-EU 7 123277879 123277879 single base substitution C G 3_prime_UTR_variant BRCA-EU 7 123277973 123277973 single base substitution T C downstream_gene_variant BRCA-EU 7 123278714 123278714 single base substitution T C downstream_gene_variant BRCA-EU 7 123279423 123279423 single base substitution G T downstream_gene_variant BRCA-EU 7 123279627 123279627 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 123279776 123279776 single base substitution A T downstream_gene_variant BRCA-EU 7 123280276 123280276 single base substitution C A downstream_gene_variant BRCA-EU 7 123280578 123280578 single base substitution C G downstream_gene_variant BRCA-EU 7 123280884 123280884 single base substitution C A downstream_gene_variant BRCA-EU 7 123281235 123281235 single base substitution G A downstream_gene_variant BRCA-EU 7 123281382 123281382 single base substitution A G downstream_gene_variant BRCA-EU 7 123281425 123281425 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 123281745 123281745 single base substitution T A downstream_gene_variant BRCA-EU 7 123282567 123282567 single base substitution G A downstream_gene_variant BRCA-EU 7 123282936 123282936 single base substitution T C downstream_gene_variant BRCA-FR 7 123203831 123203831 single base substitution C A upstream_gene_variant BRCA-FR 7 123220278 123220278 single base substitution T G intron_variant BRCA-FR 7 123221346 123221346 single base substitution C T intron_variant BRCA-FR 7 123228426 123228426 single base substitution G A intron_variant BRCA-FR 7 123240213 123240213 single base substitution G C intron_variant BRCA-FR 7 123240213 123240213 single base substitution G C upstream_gene_variant BRCA-FR 7 123245137 123245137 single base substitution G A intron_variant BRCA-FR 7 123245137 123245137 single base substitution G A upstream_gene_variant BRCA-FR 7 123246471 123246471 single base substitution G A intron_variant BRCA-FR 7 123246471 123246471 single base substitution G A upstream_gene_variant BRCA-FR 7 123251800 123251800 single base substitution C T intron_variant BRCA-FR 7 123253643 123253643 single base substitution G C intron_variant BRCA-FR 7 123259063 123259063 single base substitution A T downstream_gene_variant BRCA-FR 7 123259063 123259063 single base substitution A T intron_variant BRCA-FR 7 123260240 123260240 single base substitution T A downstream_gene_variant BRCA-FR 7 123260240 123260240 single base substitution T A intron_variant BRCA-FR 7 123263392 123263392 single base substitution T A intron_variant BRCA-FR 7 123270402 123270402 single base substitution A T downstream_gene_variant BRCA-FR 7 123270402 123270402 single base substitution A T intron_variant BRCA-FR 7 123270455 123270455 single base substitution C T downstream_gene_variant BRCA-FR 7 123270455 123270455 single base substitution C T intron_variant BRCA-FR 7 123271908 123271908 single base substitution G A downstream_gene_variant BRCA-FR 7 123271908 123271908 single base substitution G A intron_variant BRCA-FR 7 123273695 123273695 single base substitution G C intron_variant BRCA-FR 7 123279423 123279423 single base substitution G T downstream_gene_variant BRCA-UK 7 123206017 123206017 single base substitution G C upstream_gene_variant BRCA-UK 7 123206254 123206254 single base substitution G T upstream_gene_variant BRCA-UK 7 123207176 123207176 single base substitution A T intron_variant BRCA-UK 7 123213578 123213578 single base substitution C G intron_variant BRCA-UK 7 123222599 123222599 single base substitution C T intron_variant BRCA-UK 7 123257725 123257725 single base substitution A T downstream_gene_variant BRCA-UK 7 123257725 123257725 single base substitution A T missense_variant T129S 385A>T BRCA-UK 7 123268346 123268346 single base substitution G C downstream_gene_variant BRCA-UK 7 123268346 123268346 single base substitution G C intron_variant BRCA-UK 7 123282936 123282936 single base substitution T C downstream_gene_variant BRCA-US 7 123256326 123256326 single base substitution A G splice_region_variant BRCA-US 7 123269363 123269363 single base substitution G A downstream_gene_variant BRCA-US 7 123269363 123269363 single base substitution G A missense_variant G439S 1315G>A BTCA-JP 7 123276920 123276920 single base substitution T C missense_variant L551P 1652T>C CESC-US 7 123254659 123254659 single base substitution G T stop_gained E35* 103G>T CESC-US 7 123256536 123256536 single base substitution G A synonymous_variant E93E 279G>A CESC-US 7 123264786 123264786 single base substitution G A synonymous_variant L205L 615G>A CESC-US 7 123276930 123276930 single base substitution C G synonymous_variant L554L 1662C>G CLLE-ES 7 123203450 123203450 single base substitution G A upstream_gene_variant CLLE-ES 7 123211811 123211811 single base substitution G A intron_variant CLLE-ES 7 123212345 123212345 single base substitution G A intron_variant CLLE-ES 7 123225530 123225530 single base substitution T C intron_variant CLLE-ES 7 123234908 123234908 single base substitution G T intron_variant CLLE-ES 7 123236634 123236634 single base substitution C A intron_variant CLLE-ES 7 123244215 123244215 single base substitution C T 5_prime_UTR_variant CLLE-ES 7 123244215 123244215 single base substitution C T intron_variant CLLE-ES 7 123244215 123244215 single base substitution C T upstream_gene_variant CLLE-ES 7 123244681 123244681 single base substitution A C intron_variant CLLE-ES 7 123244681 123244681 single base substitution A C upstream_gene_variant CLLE-ES 7 123274874 123274874 single base substitution G C intron_variant COAD-US 7 123256505 123256505 single base substitution C T missense_variant A83V 248C>T COAD-US 7 123257756 123257756 insertion of <=200bp - A downstream_gene_variant COAD-US 7 123257756 123257756 insertion of <=200bp - A frameshift_variant T139N? COAD-US 7 123264647 123264647 single base substitution T C missense_variant M159T 476T>C COAD-US 7 123264804 123264804 single base substitution C T synonymous_variant V211V 633C>T COAD-US 7 123264805 123264805 single base substitution A G missense_variant T212A 634A>G COAD-US 7 123268961 123268961 single base substitution C T downstream_gene_variant COAD-US 7 123268961 123268961 single base substitution C T missense_variant R305W 913C>T COAD-US 7 123269118 123269118 single base substitution G C downstream_gene_variant COAD-US 7 123269118 123269118 single base substitution G C missense_variant G357A 1070G>C COAD-US 7 123270021 123270021 single base substitution T G downstream_gene_variant COAD-US 7 123270021 123270021 single base substitution T G missense_variant F481C 1442T>G COAD-US 7 123277013 123277013 single base substitution G A missense_variant G582E 1745G>A COCA-CN 7 123208430 123208430 single base substitution C T intron_variant COCA-CN 7 123210774 123210774 single base substitution G A intron_variant COCA-CN 7 123210775 123210775 single base substitution A T intron_variant COCA-CN 7 123215114 123215114 single base substitution C T intron_variant COCA-CN 7 123230986 123230986 single base substitution T C intron_variant COCA-CN 7 123232084 123232084 single base substitution G T intron_variant COCA-CN 7 123233818 123233818 single base substitution T A intron_variant COCA-CN 7 123236224 123236224 single base substitution G A intron_variant COCA-CN 7 123236653 123236653 single base substitution G C intron_variant COCA-CN 7 123243562 123243562 single base substitution G A intron_variant COCA-CN 7 123246558 123246558 single base substitution C A intron_variant COCA-CN 7 123246558 123246558 single base substitution C A upstream_gene_variant COCA-CN 7 123254698 123254698 single base substitution C A intron_variant COCA-CN 7 123257785 123257785 single base substitution C A downstream_gene_variant COCA-CN 7 123257785 123257785 single base substitution C A missense_variant L149M 445C>A COCA-CN 7 123258362 123258362 single base substitution T A downstream_gene_variant COCA-CN 7 123258362 123258362 single base substitution T A intron_variant COCA-CN 7 123258365 123258365 single base substitution T C downstream_gene_variant COCA-CN 7 123258365 123258365 single base substitution T C intron_variant COCA-CN 7 123263318 123263318 single base substitution A G intron_variant COCA-CN 7 123264654 123264654 single base substitution G A synonymous_variant S161S 483G>A COCA-CN 7 123266825 123266825 single base substitution T C intron_variant COCA-CN 7 123267157 123267157 single base substitution C T intron_variant COCA-CN 7 123267157 123267157 single base substitution C T splice_region_variant COCA-CN 7 123268847 123268847 single base substitution G A downstream_gene_variant COCA-CN 7 123268847 123268847 single base substitution G A intron_variant COCA-CN 7 123268961 123268961 single base substitution C T downstream_gene_variant COCA-CN 7 123268961 123268961 single base substitution C T missense_variant R305W 913C>T COCA-CN 7 123269324 123269324 single base substitution C A downstream_gene_variant COCA-CN 7 123269324 123269324 single base substitution C A missense_variant L426I 1276C>A COCA-CN 7 123269380 123269380 single base substitution G T downstream_gene_variant COCA-CN 7 123269380 123269380 single base substitution G T missense_variant M444I 1332G>T COCA-CN 7 123269982 123269982 single base substitution A T downstream_gene_variant COCA-CN 7 123269982 123269982 single base substitution A T intron_variant COCA-CN 7 123270162 123270162 single base substitution G A downstream_gene_variant COCA-CN 7 123270162 123270162 single base substitution G A missense_variant R528H 1583G>A COCA-CN 7 123270380 123270380 single base substitution G T downstream_gene_variant COCA-CN 7 123270380 123270380 single base substitution G T intron_variant COCA-CN 7 123270382 123270382 single base substitution G C downstream_gene_variant COCA-CN 7 123270382 123270382 single base substitution G C intron_variant COCA-CN 7 123270383 123270383 single base substitution T A downstream_gene_variant COCA-CN 7 123270383 123270383 single base substitution T A intron_variant COCA-CN 7 123276904 123276904 single base substitution C T stop_gained R546* 1636C>T COCA-CN 7 123280766 123280766 single base substitution A G downstream_gene_variant EOPC-DE 7 123212345 123212345 single base substitution G A intron_variant ESAD-UK 7 123202284 123202284 single base substitution T C upstream_gene_variant ESAD-UK 7 123204192 123204192 single base substitution C G upstream_gene_variant ESAD-UK 7 123206315 123206315 single base substitution A G upstream_gene_variant ESAD-UK 7 123208105 123208105 single base substitution T A intron_variant ESAD-UK 7 123208120 123208120 single base substitution T A intron_variant ESAD-UK 7 123209688 123209688 single base substitution G T intron_variant ESAD-UK 7 123210635 123210635 single base substitution A T intron_variant ESAD-UK 7 123211648 123211648 single base substitution G T intron_variant ESAD-UK 7 123212299 123212299 single base substitution G A intron_variant ESAD-UK 7 123213221 123213221 single base substitution A T intron_variant ESAD-UK 7 123213644 123213644 single base substitution T G intron_variant ESAD-UK 7 123213676 123213676 single base substitution A C intron_variant ESAD-UK 7 123213678 123213678 single base substitution T A intron_variant ESAD-UK 7 123214142 123214142 single base substitution C T intron_variant ESAD-UK 7 123214310 123214310 single base substitution T G intron_variant ESAD-UK 7 123216004 123216004 insertion of <=200bp - T intron_variant ESAD-UK 7 123217508 123217508 single base substitution G A intron_variant ESAD-UK 7 123218485 123218485 single base substitution C A intron_variant ESAD-UK 7 123219263 123219263 single base substitution T C intron_variant ESAD-UK 7 123220057 123220057 single base substitution A C intron_variant ESAD-UK 7 123220914 123220914 deletion of <=200bp A - intron_variant ESAD-UK 7 123220914 123220914 insertion of <=200bp - A intron_variant ESAD-UK 7 123220921 123220921 single base substitution C T intron_variant ESAD-UK 7 123221391 123221391 single base substitution C G intron_variant ESAD-UK 7 123221797 123221797 single base substitution T C intron_variant ESAD-UK 7 123221884 123221884 single base substitution A C intron_variant ESAD-UK 7 123223469 123223469 single base substitution A C intron_variant ESAD-UK 7 123224495 123224495 single base substitution A G intron_variant ESAD-UK 7 123227220 123227220 single base substitution T A intron_variant ESAD-UK 7 123228448 123228448 single base substitution T A intron_variant ESAD-UK 7 123228784 123228784 single base substitution A G intron_variant ESAD-UK 7 123229381 123229381 single base substitution T C intron_variant ESAD-UK 7 123230870 123230870 deletion of <=200bp T - intron_variant ESAD-UK 7 123231573 123231573 single base substitution A C intron_variant ESAD-UK 7 123232094 123232094 single base substitution G T intron_variant ESAD-UK 7 123232095 123232095 single base substitution T C intron_variant ESAD-UK 7 123233639 123233639 single base substitution A C intron_variant ESAD-UK 7 123235569 123235569 single base substitution G A intron_variant ESAD-UK 7 123237611 123237611 single base substitution C T intron_variant ESAD-UK 7 123237611 123237611 single base substitution C T upstream_gene_variant ESAD-UK 7 123238831 123238831 single base substitution A C intron_variant ESAD-UK 7 123238831 123238831 single base substitution A C upstream_gene_variant ESAD-UK 7 123238989 123238989 single base substitution T A intron_variant ESAD-UK 7 123238989 123238989 single base substitution T A upstream_gene_variant ESAD-UK 7 123239148 123239148 single base substitution C A intron_variant ESAD-UK 7 123239148 123239148 single base substitution C A upstream_gene_variant ESAD-UK 7 123240908 123240908 single base substitution C A intron_variant ESAD-UK 7 123240908 123240908 single base substitution C A upstream_gene_variant ESAD-UK 7 123241160 123241160 single base substitution T C intron_variant ESAD-UK 7 123241160 123241160 single base substitution T C upstream_gene_variant ESAD-UK 7 123241293 123241293 deletion of <=200bp T - intron_variant ESAD-UK 7 123241293 123241293 deletion of <=200bp T - upstream_gene_variant ESAD-UK 7 123241300 123241300 deletion of <=200bp G - intron_variant ESAD-UK 7 123241300 123241300 deletion of <=200bp G - upstream_gene_variant ESAD-UK 7 123241301 123241301 single base substitution C A intron_variant ESAD-UK 7 123241301 123241301 single base substitution C A upstream_gene_variant ESAD-UK 7 123241444 123241444 single base substitution C A intron_variant ESAD-UK 7 123241444 123241444 single base substitution C A upstream_gene_variant ESAD-UK 7 123243092 123243092 single base substitution A G intron_variant ESAD-UK 7 123243868 123243868 single base substitution C T intron_variant ESAD-UK 7 123243868 123243868 single base substitution C T upstream_gene_variant ESAD-UK 7 123244151 123244151 single base substitution G C 5_prime_UTR_variant ESAD-UK 7 123244151 123244151 single base substitution G C intron_variant ESAD-UK 7 123244151 123244151 single base substitution G C upstream_gene_variant ESAD-UK 7 123244475 123244475 single base substitution A C intron_variant ESAD-UK 7 123244475 123244475 single base substitution A C upstream_gene_variant ESAD-UK 7 123244702 123244702 single base substitution T C intron_variant ESAD-UK 7 123244702 123244702 single base substitution T C upstream_gene_variant ESAD-UK 7 123245344 123245344 single base substitution G C intron_variant ESAD-UK 7 123245344 123245344 single base substitution G C upstream_gene_variant ESAD-UK 7 123246052 123246052 insertion of <=200bp - A intron_variant ESAD-UK 7 123246052 123246052 insertion of <=200bp - A upstream_gene_variant ESAD-UK 7 123247836 123247836 single base substitution C T intron_variant ESAD-UK 7 123247836 123247836 single base substitution C T upstream_gene_variant ESAD-UK 7 123248927 123248927 single base substitution T G intron_variant ESAD-UK 7 123248927 123248927 single base substitution T G upstream_gene_variant ESAD-UK 7 123250160 123250160 single base substitution C T intron_variant ESAD-UK 7 123250409 123250409 single base substitution T G intron_variant ESAD-UK 7 123251772 123251772 single base substitution T G intron_variant ESAD-UK 7 123253340 123253340 single base substitution G T intron_variant ESAD-UK 7 123253385 123253385 single base substitution A C intron_variant ESAD-UK 7 123253457 123253457 single base substitution A C intron_variant ESAD-UK 7 123253724 123253724 single base substitution T A intron_variant ESAD-UK 7 123254091 123254091 single base substitution C T intron_variant ESAD-UK 7 123254820 123254820 single base substitution A C intron_variant ESAD-UK 7 123255156 123255156 single base substitution G A intron_variant ESAD-UK 7 123255744 123255744 single base substitution G T intron_variant ESAD-UK 7 123256323 123256323 single base substitution A T missense_variant K52N 156A>T ESAD-UK 7 123258993 123258993 single base substitution G T downstream_gene_variant ESAD-UK 7 123258993 123258993 single base substitution G T intron_variant ESAD-UK 7 123260859 123260859 single base substitution G A downstream_gene_variant ESAD-UK 7 123260859 123260859 single base substitution G A intron_variant ESAD-UK 7 123261292 123261292 single base substitution T C downstream_gene_variant ESAD-UK 7 123261292 123261292 single base substitution T C intron_variant ESAD-UK 7 123261350 123261350 single base substitution G A downstream_gene_variant ESAD-UK 7 123261350 123261350 single base substitution G A intron_variant ESAD-UK 7 123264816 123264816 single base substitution C G synonymous_variant G215G 645C>G ESAD-UK 7 123265519 123265519 single base substitution C G intron_variant ESAD-UK 7 123266018 123266018 single base substitution A G intron_variant ESAD-UK 7 123270226 123270226 single base substitution G A downstream_gene_variant ESAD-UK 7 123270226 123270226 single base substitution G A intron_variant ESAD-UK 7 123270764 123270764 insertion of <=200bp - A downstream_gene_variant ESAD-UK 7 123270764 123270764 insertion of <=200bp - A intron_variant ESAD-UK 7 123272511 123272511 single base substitution T C intron_variant ESAD-UK 7 123273351 123273351 single base substitution G A intron_variant ESAD-UK 7 123276105 123276105 single base substitution C T intron_variant ESAD-UK 7 123278747 123278747 single base substitution G A downstream_gene_variant ESAD-UK 7 123279665 123279665 single base substitution A G downstream_gene_variant ESAD-UK 7 123280311 123280311 single base substitution G A downstream_gene_variant ESAD-UK 7 123281596 123281596 single base substitution A C downstream_gene_variant ESAD-UK 7 123281945 123281945 single base substitution G T downstream_gene_variant ESAD-UK 7 123282216 123282216 single base substitution G A downstream_gene_variant GBM-US 7 123269046 123269046 single base substitution A G downstream_gene_variant GBM-US 7 123269046 123269046 single base substitution A G missense_variant D333G 998A>G GBM-US 7 123276864 123276864 single base substitution G A splice_region_variant KIRC-US 7 123257653 123257653 single base substitution G T downstream_gene_variant KIRC-US 7 123257653 123257653 single base substitution G T stop_gained E105* 313G>T KIRC-US 7 123267202 123267202 single base substitution G T downstream_gene_variant KIRC-US 7 123267202 123267202 single base substitution G T missense_variant V246L 736G>T LAML-KR 7 123229378 123229378 single base substitution C T intron_variant LAML-KR 7 123229381 123229381 single base substitution T C intron_variant LAML-KR 7 123237984 123237984 single base substitution G A intron_variant LAML-KR 7 123237984 123237984 single base substitution G A upstream_gene_variant LICA-CN 7 123256536 123256536 single base substitution G T missense_variant E93D 279G>T LICA-FR 7 123213343 123213343 deletion of <=200bp T - intron_variant LICA-FR 7 123226633 123226633 single base substitution T C intron_variant LICA-FR 7 123249910 123249910 single base substitution T C intron_variant LICA-FR 7 123250247 123250247 single base substitution G A intron_variant LIHC-US 7 123269106 123269106 single base substitution C T downstream_gene_variant LIHC-US 7 123269106 123269106 single base substitution C T missense_variant A353V 1058C>T LIHC-US 7 123270025 123270025 single base substitution T C downstream_gene_variant LIHC-US 7 123270025 123270025 single base substitution T C synonymous_variant C482C 1446T>C LINC-JP 7 123204053 123204053 single base substitution C T upstream_gene_variant LINC-JP 7 123215167 123215167 single base substitution T G intron_variant LINC-JP 7 123221152 123221152 single base substitution A G intron_variant LINC-JP 7 123222355 123222355 single base substitution A T intron_variant LINC-JP 7 123226784 123226784 single base substitution G T intron_variant LINC-JP 7 123228145 123228145 single base substitution A C intron_variant LINC-JP 7 123244704 123244704 single base substitution A G intron_variant LINC-JP 7 123244704 123244704 single base substitution A G upstream_gene_variant LINC-JP 7 123257719 123257719 single base substitution G T downstream_gene_variant LINC-JP 7 123257719 123257719 single base substitution G T missense_variant V127L 379G>T LINC-JP 7 123266495 123266495 single base substitution C A intron_variant LINC-JP 7 123269430 123269430 single base substitution C A downstream_gene_variant LINC-JP 7 123269430 123269430 single base substitution C A stop_gained S461* 1382C>A LINC-JP 7 123270181 123270181 single base substitution C A downstream_gene_variant LINC-JP 7 123270181 123270181 single base substitution C A splice_region_variant LINC-JP 7 123279254 123279254 single base substitution C T downstream_gene_variant LIRI-JP 7 123202828 123202828 single base substitution T C upstream_gene_variant LIRI-JP 7 123203083 123203083 single base substitution G T upstream_gene_variant LIRI-JP 7 123204605 123204605 single base substitution C G upstream_gene_variant LIRI-JP 7 123206375 123206375 single base substitution T C upstream_gene_variant LIRI-JP 7 123206917 123206917 single base substitution C T upstream_gene_variant LIRI-JP 7 123207912 123207912 single base substitution T C intron_variant LIRI-JP 7 123214571 123214571 single base substitution T C intron_variant LIRI-JP 7 123214599 123214599 single base substitution A C intron_variant LIRI-JP 7 123214902 123214902 single base substitution A G intron_variant LIRI-JP 7 123216434 123216434 single base substitution T C intron_variant LIRI-JP 7 123220047 123220047 single base substitution A G intron_variant LIRI-JP 7 123221726 123221726 single base substitution T C intron_variant LIRI-JP 7 123222610 123222610 single base substitution C A intron_variant LIRI-JP 7 123225275 123225275 single base substitution A G intron_variant LIRI-JP 7 123227662 123227662 single base substitution C T intron_variant LIRI-JP 7 123230694 123230694 single base substitution G C intron_variant LIRI-JP 7 123231146 123231146 single base substitution T C intron_variant LIRI-JP 7 123232393 123232393 single base substitution G A intron_variant LIRI-JP 7 123233325 123233325 single base substitution A G intron_variant LIRI-JP 7 123236591 123236591 single base substitution G A intron_variant LIRI-JP 7 123238921 123238921 single base substitution C A intron_variant LIRI-JP 7 123238921 123238921 single base substitution C A upstream_gene_variant LIRI-JP 7 123239650 123239650 insertion of <=200bp - G intron_variant LIRI-JP 7 123239650 123239650 insertion of <=200bp - G upstream_gene_variant LIRI-JP 7 123241696 123241696 single base substitution A T intron_variant LIRI-JP 7 123241696 123241696 single base substitution A T upstream_gene_variant LIRI-JP 7 123242089 123242089 single base substitution A G intron_variant LIRI-JP 7 123244898 123244898 single base substitution T G intron_variant LIRI-JP 7 123244898 123244898 single base substitution T G upstream_gene_variant LIRI-JP 7 123245004 123245004 single base substitution C G intron_variant LIRI-JP 7 123245004 123245004 single base substitution C G upstream_gene_variant LIRI-JP 7 123246218 123246218 single base substitution T C intron_variant LIRI-JP 7 123246218 123246218 single base substitution T C upstream_gene_variant LIRI-JP 7 123246779 123246779 single base substitution C A intron_variant LIRI-JP 7 123246779 123246779 single base substitution C A upstream_gene_variant LIRI-JP 7 123247977 123247977 single base substitution T C intron_variant LIRI-JP 7 123247977 123247977 single base substitution T C upstream_gene_variant LIRI-JP 7 123248483 123248483 single base substitution T C intron_variant LIRI-JP 7 123248483 123248483 single base substitution T C upstream_gene_variant LIRI-JP 7 123248982 123248982 single base substitution C T intron_variant LIRI-JP 7 123248982 123248982 single base substitution C T upstream_gene_variant LIRI-JP 7 123251998 123251998 single base substitution G C intron_variant LIRI-JP 7 123252872 123252872 single base substitution A G intron_variant LIRI-JP 7 123254156 123254156 single base substitution T A intron_variant LIRI-JP 7 123256263 123256263 single base substitution T A intron_variant LIRI-JP 7 123256369 123256369 single base substitution C T intron_variant LIRI-JP 7 123256429 123256436 deletion of <=200bp GAGCTCCA - frameshift_variant ELQ58 LIRI-JP 7 123257757 123257757 insertion of <=200bp - A downstream_gene_variant LIRI-JP 7 123257757 123257757 insertion of <=200bp - A frameshift_variant T139T? LIRI-JP 7 123258724 123258724 single base substitution G A downstream_gene_variant LIRI-JP 7 123258724 123258724 single base substitution G A intron_variant LIRI-JP 7 123259548 123259548 single base substitution G C downstream_gene_variant LIRI-JP 7 123259548 123259548 single base substitution G C intron_variant LIRI-JP 7 123260528 123260528 single base substitution G A downstream_gene_variant LIRI-JP 7 123260528 123260528 single base substitution G A intron_variant LIRI-JP 7 123262838 123262838 single base substitution T G intron_variant LIRI-JP 7 123263586 123263586 single base substitution T C intron_variant LIRI-JP 7 123263593 123263593 single base substitution T A intron_variant LIRI-JP 7 123264205 123264205 single base substitution T C intron_variant LIRI-JP 7 123264365 123264365 single base substitution T C intron_variant LIRI-JP 7 123265607 123265607 single base substitution G C intron_variant LIRI-JP 7 123268223 123268223 single base substitution T C downstream_gene_variant LIRI-JP 7 123268223 123268223 single base substitution T C intron_variant LIRI-JP 7 123268790 123268790 single base substitution G C downstream_gene_variant LIRI-JP 7 123268790 123268790 single base substitution G C intron_variant LIRI-JP 7 123271993 123271993 single base substitution G A downstream_gene_variant LIRI-JP 7 123271993 123271993 single base substitution G A intron_variant LIRI-JP 7 123272617 123272617 single base substitution G T intron_variant LIRI-JP 7 123275161 123275161 single base substitution A C intron_variant LIRI-JP 7 123277078 123277078 single base substitution G T 3_prime_UTR_variant LIRI-JP 7 123278435 123278435 single base substitution T C downstream_gene_variant LIRI-JP 7 123279039 123279039 single base substitution T A downstream_gene_variant LIRI-JP 7 123279985 123279985 single base substitution T G downstream_gene_variant LIRI-JP 7 123280256 123280256 single base substitution A G downstream_gene_variant LIRI-JP 7 123281575 123281575 single base substitution A T downstream_gene_variant LIRI-JP 7 123282097 123282097 insertion of <=200bp - C downstream_gene_variant LUSC-KR 7 123202388 123202388 single base substitution A G upstream_gene_variant LUSC-KR 7 123203495 123203495 single base substitution A G upstream_gene_variant LUSC-KR 7 123205431 123205431 single base substitution C G upstream_gene_variant LUSC-KR 7 123206795 123206795 single base substitution C A upstream_gene_variant LUSC-KR 7 123207575 123207575 single base substitution G T intron_variant LUSC-KR 7 123207822 123207822 single base substitution G A intron_variant LUSC-KR 7 123208952 123208952 single base substitution A G intron_variant LUSC-KR 7 123210522 123210522 single base substitution C A intron_variant LUSC-KR 7 123212214 123212214 single base substitution G T intron_variant LUSC-KR 7 123212342 123212342 single base substitution C T intron_variant LUSC-KR 7 123214071 123214071 single base substitution T A intron_variant LUSC-KR 7 123220476 123220476 single base substitution T C intron_variant LUSC-KR 7 123220659 123220659 single base substitution G T intron_variant LUSC-KR 7 123220762 123220762 single base substitution C T intron_variant LUSC-KR 7 123221011 123221011 single base substitution G C intron_variant LUSC-KR 7 123222174 123222174 single base substitution G T intron_variant LUSC-KR 7 123222333 123222333 single base substitution G A intron_variant LUSC-KR 7 123222936 123222936 single base substitution A G intron_variant LUSC-KR 7 123229381 123229381 single base substitution T C intron_variant LUSC-KR 7 123232276 123232276 single base substitution A C intron_variant LUSC-KR 7 123232739 123232739 single base substitution G T intron_variant LUSC-KR 7 123233545 123233545 single base substitution A T intron_variant LUSC-KR 7 123237984 123237984 single base substitution G A intron_variant LUSC-KR 7 123237984 123237984 single base substitution G A upstream_gene_variant LUSC-KR 7 123244457 123244457 single base substitution G A intron_variant LUSC-KR 7 123244457 123244457 single base substitution G A upstream_gene_variant LUSC-KR 7 123245560 123245560 single base substitution G A intron_variant LUSC-KR 7 123245560 123245560 single base substitution G A upstream_gene_variant LUSC-KR 7 123247957 123247957 single base substitution T C intron_variant LUSC-KR 7 123247957 123247957 single base substitution T C upstream_gene_variant LUSC-KR 7 123248339 123248339 single base substitution C A intron_variant LUSC-KR 7 123248339 123248339 single base substitution C A upstream_gene_variant LUSC-KR 7 123249043 123249043 single base substitution G A intron_variant LUSC-KR 7 123249043 123249043 single base substitution G A upstream_gene_variant LUSC-KR 7 123254492 123254492 single base substitution C G intron_variant LUSC-KR 7 123254985 123254985 single base substitution A C intron_variant LUSC-KR 7 123256643 123256643 single base substitution G T downstream_gene_variant LUSC-KR 7 123256643 123256643 single base substitution G T intron_variant LUSC-KR 7 123256784 123256784 single base substitution G C downstream_gene_variant LUSC-KR 7 123256784 123256784 single base substitution G C intron_variant LUSC-KR 7 123256996 123256996 single base substitution T C downstream_gene_variant LUSC-KR 7 123256996 123256996 single base substitution T C intron_variant LUSC-KR 7 123259330 123259330 single base substitution C T downstream_gene_variant LUSC-KR 7 123259330 123259330 single base substitution C T intron_variant LUSC-KR 7 123259531 123259531 single base substitution G C downstream_gene_variant LUSC-KR 7 123259531 123259531 single base substitution G C intron_variant LUSC-KR 7 123259782 123259782 single base substitution T G downstream_gene_variant LUSC-KR 7 123259782 123259782 single base substitution T G intron_variant LUSC-KR 7 123262546 123262546 single base substitution C G intron_variant LUSC-KR 7 123264875 123264875 single base substitution G T splice_region_variant LUSC-KR 7 123268200 123268200 single base substitution G A downstream_gene_variant LUSC-KR 7 123268200 123268200 single base substitution G A intron_variant LUSC-KR 7 123277516 123277516 single base substitution T C 3_prime_UTR_variant LUSC-KR 7 123282870 123282870 single base substitution C T downstream_gene_variant LUSC-US 7 123256317 123256317 single base substitution C A synonymous_variant A50A 150C>A LUSC-US 7 123270074 123270074 single base substitution C A downstream_gene_variant LUSC-US 7 123270074 123270074 single base substitution C A missense_variant R499S 1495C>A MALY-DE 7 123202472 123202472 single base substitution T C upstream_gene_variant MALY-DE 7 123203732 123203732 single base substitution A C upstream_gene_variant MALY-DE 7 123214811 123214811 insertion of <=200bp - T intron_variant MALY-DE 7 123215754 123215754 insertion of <=200bp - G intron_variant MALY-DE 7 123218092 123218092 single base substitution C T intron_variant MALY-DE 7 123220572 123220572 single base substitution G A intron_variant MALY-DE 7 123224192 123224192 single base substitution C T intron_variant MALY-DE 7 123225690 123225691 deletion of <=200bp TG - intron_variant MALY-DE 7 123231416 123231416 single base substitution A C intron_variant MALY-DE 7 123232799 123232799 single base substitution G C intron_variant MALY-DE 7 123233153 123233153 insertion of <=200bp - T intron_variant MALY-DE 7 123234173 123234173 single base substitution T A intron_variant MALY-DE 7 123234329 123234329 single base substitution T G intron_variant MALY-DE 7 123237863 123237863 single base substitution C T intron_variant MALY-DE 7 123237863 123237863 single base substitution C T upstream_gene_variant MALY-DE 7 123238361 123238361 single base substitution A T intron_variant MALY-DE 7 123238361 123238361 single base substitution A T upstream_gene_variant MALY-DE 7 123241931 123241931 single base substitution G A 5_prime_UTR_variant MALY-DE 7 123241931 123241931 single base substitution G A intron_variant MALY-DE 7 123243761 123243761 single base substitution G A intron_variant MALY-DE 7 123243761 123243761 single base substitution G A upstream_gene_variant MALY-DE 7 123246566 123246566 single base substitution G A intron_variant MALY-DE 7 123246566 123246566 single base substitution G A upstream_gene_variant MALY-DE 7 123249366 123249366 single base substitution A C intron_variant MALY-DE 7 123250000 123250000 single base substitution T C intron_variant MALY-DE 7 123252023 123252023 deletion of <=200bp A - intron_variant MALY-DE 7 123272056 123272056 single base substitution C T downstream_gene_variant MALY-DE 7 123272056 123272056 single base substitution C T intron_variant MALY-DE 7 123273669 123273670 deletion of <=200bp GT - intron_variant MALY-DE 7 123275065 123275065 single base substitution G T intron_variant MALY-DE 7 123279245 123279245 single base substitution C A downstream_gene_variant MALY-DE 7 123281951 123281951 single base substitution A C downstream_gene_variant MELA-AU 7 123202151 123202151 single base substitution T G upstream_gene_variant MELA-AU 7 123202221 123202221 single base substitution C T upstream_gene_variant MELA-AU 7 123202252 123202252 single base substitution C T upstream_gene_variant MELA-AU 7 123202515 123202515 single base substitution T C upstream_gene_variant MELA-AU 7 123202617 123202617 single base substitution G A upstream_gene_variant MELA-AU 7 123202633 123202633 single base substitution C T upstream_gene_variant MELA-AU 7 123202932 123202932 single base substitution A G upstream_gene_variant MELA-AU 7 123203088 123203088 single base substitution C T upstream_gene_variant MELA-AU 7 123203171 123203171 single base substitution C T upstream_gene_variant MELA-AU 7 123203600 123203600 single base substitution G A upstream_gene_variant MELA-AU 7 123203870 123203870 single base substitution G A upstream_gene_variant MELA-AU 7 123204214 123204214 single base substitution G A upstream_gene_variant MELA-AU 7 123204253 123204253 single base substitution C T upstream_gene_variant MELA-AU 7 123204530 123204530 single base substitution G A upstream_gene_variant MELA-AU 7 123204617 123204617 single base substitution G A upstream_gene_variant MELA-AU 7 123204647 123204647 single base substitution G A upstream_gene_variant MELA-AU 7 123204745 123204745 single base substitution G A upstream_gene_variant MELA-AU 7 123204978 123204978 single base substitution T C upstream_gene_variant MELA-AU 7 123205082 123205082 single base substitution C T upstream_gene_variant MELA-AU 7 123205135 123205135 single base substitution C T upstream_gene_variant MELA-AU 7 123205256 123205256 single base substitution G A upstream_gene_variant MELA-AU 7 123205315 123205315 single base substitution G A upstream_gene_variant MELA-AU 7 123205322 123205322 single base substitution T C upstream_gene_variant MELA-AU 7 123205575 123205575 single base substitution G A upstream_gene_variant MELA-AU 7 123205852 123205852 single base substitution C T upstream_gene_variant MELA-AU 7 123205980 123205980 single base substitution G A upstream_gene_variant MELA-AU 7 123206247 123206247 single base substitution G A upstream_gene_variant MELA-AU 7 123206348 123206348 single base substitution C A upstream_gene_variant MELA-AU 7 123206533 123206533 single base substitution G A upstream_gene_variant MELA-AU 7 123206595 123206595 single base substitution A T upstream_gene_variant MELA-AU 7 123206796 123206796 single base substitution C T upstream_gene_variant MELA-AU 7 123206938 123206951 deletion of <=200bp AAGCTTATGAGGTC - upstream_gene_variant MELA-AU 7 123206964 123206964 single base substitution C T upstream_gene_variant MELA-AU 7 123207260 123207260 single base substitution A T intron_variant MELA-AU 7 123207344 123207344 single base substitution G A intron_variant MELA-AU 7 123207376 123207376 single base substitution C T intron_variant MELA-AU 7 123207468 123207468 single base substitution A T intron_variant MELA-AU 7 123207559 123207559 single base substitution C T intron_variant MELA-AU 7 123207597 123207597 single base substitution G A intron_variant MELA-AU 7 123207767 123207767 single base substitution G A intron_variant MELA-AU 7 123207792 123207792 single base substitution C T intron_variant MELA-AU 7 123207806 123207806 single base substitution G A intron_variant MELA-AU 7 123207853 123207853 single base substitution C T intron_variant MELA-AU 7 123207917 123207917 single base substitution G A intron_variant MELA-AU 7 123207926 123207926 single base substitution C T intron_variant MELA-AU 7 123208202 123208202 single base substitution G A intron_variant MELA-AU 7 123208529 123208529 single base substitution C T intron_variant MELA-AU 7 123208543 123208543 single base substitution C T intron_variant MELA-AU 7 123208570 123208570 single base substitution C T intron_variant MELA-AU 7 123208896 123208896 single base substitution G A intron_variant MELA-AU 7 123208947 123208947 single base substitution T C intron_variant MELA-AU 7 123209221 123209221 single base substitution A G intron_variant MELA-AU 7 123209351 123209351 single base substitution G A intron_variant MELA-AU 7 123209691 123209691 single base substitution G A intron_variant MELA-AU 7 123209749 123209749 single base substitution C T intron_variant MELA-AU 7 123210223 123210223 single base substitution G A intron_variant MELA-AU 7 123210226 123210226 single base substitution C T intron_variant MELA-AU 7 123210400 123210400 single base substitution C A intron_variant MELA-AU 7 123210576 123210576 single base substitution G A intron_variant MELA-AU 7 123210693 123210693 single base substitution G A intron_variant MELA-AU 7 123210765 123210765 single base substitution G A intron_variant MELA-AU 7 123210939 123210939 single base substitution A T intron_variant MELA-AU 7 123210944 123210944 single base substitution C T intron_variant MELA-AU 7 123210986 123210986 single base substitution G A intron_variant MELA-AU 7 123211067 123211067 single base substitution C T intron_variant MELA-AU 7 123211212 123211212 single base substitution G A intron_variant MELA-AU 7 123211233 123211233 single base substitution T C intron_variant MELA-AU 7 123211351 123211351 single base substitution C T intron_variant MELA-AU 7 123211740 123211740 single base substitution A G intron_variant MELA-AU 7 123212067 123212067 single base substitution C T intron_variant MELA-AU 7 123212087 123212087 single base substitution C T intron_variant MELA-AU 7 123212240 123212241 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 123212318 123212318 single base substitution C T intron_variant MELA-AU 7 123212659 123212659 single base substitution C T intron_variant MELA-AU 7 123212989 123212989 single base substitution C T intron_variant MELA-AU 7 123212990 123212990 single base substitution C T intron_variant MELA-AU 7 123213018 123213018 single base substitution C T intron_variant MELA-AU 7 123213335 123213335 single base substitution G A intron_variant MELA-AU 7 123213514 123213514 single base substitution G A intron_variant MELA-AU 7 123213649 123213649 single base substitution A T intron_variant MELA-AU 7 123213691 123213692 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 123213980 123213980 single base substitution G A intron_variant MELA-AU 7 123214161 123214162 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 123214202 123214202 single base substitution T C intron_variant MELA-AU 7 123214244 123214244 single base substitution T G intron_variant MELA-AU 7 123214638 123214638 single base substitution C T intron_variant MELA-AU 7 123214792 123214792 single base substitution G A intron_variant MELA-AU 7 123214832 123214832 single base substitution T C intron_variant MELA-AU 7 123214924 123214924 single base substitution C T intron_variant MELA-AU 7 123215004 123215004 single base substitution G A intron_variant MELA-AU 7 123215110 123215110 insertion of <=200bp - T intron_variant MELA-AU 7 123215262 123215262 single base substitution C T intron_variant MELA-AU 7 123215478 123215478 single base substitution C T intron_variant MELA-AU 7 123215577 123215577 single base substitution C G intron_variant MELA-AU 7 123215596 123215596 single base substitution C T intron_variant MELA-AU 7 123215823 123215823 single base substitution C T intron_variant MELA-AU 7 123215892 123215892 single base substitution C T intron_variant MELA-AU 7 123215943 123215943 single base substitution C T intron_variant MELA-AU 7 123215999 123215999 single base substitution G A intron_variant MELA-AU 7 123216060 123216061 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 123216160 123216160 single base substitution C T intron_variant MELA-AU 7 123216210 123216210 single base substitution C T intron_variant MELA-AU 7 123216429 123216429 single base substitution G A intron_variant MELA-AU 7 123216549 123216549 single base substitution C T intron_variant MELA-AU 7 123216574 123216574 single base substitution A C intron_variant MELA-AU 7 123216617 123216617 single base substitution G A intron_variant MELA-AU 7 123216649 123216649 single base substitution G A intron_variant MELA-AU 7 123216650 123216650 single base substitution G A intron_variant MELA-AU 7 123216703 123216703 single base substitution G A intron_variant MELA-AU 7 123216940 123216940 single base substitution G A intron_variant MELA-AU 7 123217018 123217018 single base substitution G A intron_variant MELA-AU 7 123217275 123217275 single base substitution C T intron_variant MELA-AU 7 123217449 123217449 single base substitution C T intron_variant MELA-AU 7 123217664 123217664 single base substitution A T intron_variant MELA-AU 7 123217748 123217748 single base substitution C T intron_variant MELA-AU 7 123217851 123217851 single base substitution G A intron_variant MELA-AU 7 123217906 123217906 single base substitution C T intron_variant MELA-AU 7 123218021 123218021 single base substitution C A intron_variant MELA-AU 7 123218091 123218091 single base substitution C T intron_variant MELA-AU 7 123218134 123218134 single base substitution C T intron_variant MELA-AU 7 123218301 123218301 single base substitution C T intron_variant MELA-AU 7 123218451 123218451 single base substitution C T intron_variant MELA-AU 7 123218562 123218562 single base substitution C T intron_variant MELA-AU 7 123218722 123218722 single base substitution A G intron_variant MELA-AU 7 123219013 123219013 single base substitution G A intron_variant MELA-AU 7 123219097 123219097 single base substitution C T intron_variant MELA-AU 7 123219100 123219100 single base substitution T C intron_variant MELA-AU 7 123219118 123219118 single base substitution C T intron_variant MELA-AU 7 123219122 123219122 single base substitution C T intron_variant MELA-AU 7 123219125 123219125 single base substitution C T intron_variant MELA-AU 7 123219177 123219177 single base substitution C T intron_variant MELA-AU 7 123219275 123219275 single base substitution G A intron_variant MELA-AU 7 123219355 123219355 single base substitution G A intron_variant MELA-AU 7 123219619 123219620 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 123219721 123219721 single base substitution C T intron_variant MELA-AU 7 123219868 123219868 single base substitution C T intron_variant MELA-AU 7 123220039 123220039 single base substitution G A intron_variant MELA-AU 7 123220092 123220092 single base substitution G A intron_variant MELA-AU 7 123220098 123220098 single base substitution G A intron_variant MELA-AU 7 123220200 123220200 single base substitution A G intron_variant MELA-AU 7 123220202 123220202 single base substitution G A intron_variant MELA-AU 7 123220245 123220245 single base substitution G A intron_variant MELA-AU 7 123220562 123220562 single base substitution C T intron_variant MELA-AU 7 123220753 123220753 single base substitution G A intron_variant MELA-AU 7 123221162 123221162 single base substitution T G intron_variant MELA-AU 7 123221213 123221213 single base substitution C T intron_variant MELA-AU 7 123221219 123221219 single base substitution G A intron_variant MELA-AU 7 123221292 123221292 single base substitution G A intron_variant MELA-AU 7 123221547 123221547 single base substitution C T intron_variant MELA-AU 7 123221859 123221859 single base substitution C T intron_variant MELA-AU 7 123221982 123221982 single base substitution G A intron_variant MELA-AU 7 123222188 123222188 single base substitution C T intron_variant MELA-AU 7 123222329 123222329 single base substitution G A intron_variant MELA-AU 7 123222337 123222337 single base substitution G A intron_variant MELA-AU 7 123222616 123222616 single base substitution G C intron_variant MELA-AU 7 123222634 123222634 single base substitution C T intron_variant MELA-AU 7 123222635 123222635 single base substitution C T intron_variant MELA-AU 7 123222678 123222678 single base substitution C T intron_variant MELA-AU 7 123222720 123222720 single base substitution C T intron_variant MELA-AU 7 123223011 123223011 single base substitution T G intron_variant MELA-AU 7 123223708 123223708 single base substitution C T intron_variant MELA-AU 7 123224007 123224007 single base substitution G A intron_variant MELA-AU 7 123224063 123224063 single base substitution C T intron_variant MELA-AU 7 123224274 123224274 single base substitution G A intron_variant MELA-AU 7 123224687 123224687 single base substitution C T intron_variant MELA-AU 7 123224793 123224793 single base substitution G A intron_variant MELA-AU 7 123224900 123224900 single base substitution A G intron_variant MELA-AU 7 123224992 123224992 single base substitution G A intron_variant MELA-AU 7 123225095 123225095 single base substitution G A intron_variant MELA-AU 7 123225107 123225107 single base substitution G A intron_variant MELA-AU 7 123225157 123225157 single base substitution G A intron_variant MELA-AU 7 123225432 123225433 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 123225442 123225442 single base substitution C T intron_variant MELA-AU 7 123225464 123225464 single base substitution A G intron_variant MELA-AU 7 123225718 123225718 single base substitution G A intron_variant MELA-AU 7 123225739 123225739 single base substitution C T intron_variant MELA-AU 7 123225788 123225788 single base substitution C T intron_variant MELA-AU 7 123225939 123225939 single base substitution C T intron_variant MELA-AU 7 123226024 123226024 single base substitution T C intron_variant MELA-AU 7 123226224 123226224 single base substitution G A intron_variant MELA-AU 7 123226324 123226324 single base substitution C T intron_variant MELA-AU 7 123226377 123226378 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 7 123226867 123226867 single base substitution C T intron_variant MELA-AU 7 123227261 123227261 single base substitution C A intron_variant MELA-AU 7 123227281 123227281 single base substitution C T intron_variant MELA-AU 7 123227314 123227314 single base substitution C T intron_variant MELA-AU 7 123227680 123227680 single base substitution C T intron_variant MELA-AU 7 123227784 123227784 single base substitution G A intron_variant MELA-AU 7 123228146 123228146 single base substitution G A intron_variant MELA-AU 7 123228193 123228193 single base substitution C T intron_variant MELA-AU 7 123228258 123228258 single base substitution C T intron_variant MELA-AU 7 123228487 123228487 single base substitution C T intron_variant MELA-AU 7 123228552 123228552 single base substitution C T intron_variant MELA-AU 7 123228583 123228583 single base substitution C T intron_variant MELA-AU 7 123228616 123228616 single base substitution C T intron_variant MELA-AU 7 123228620 123228620 single base substitution C T intron_variant MELA-AU 7 123228624 123228624 single base substitution C T intron_variant MELA-AU 7 123228632 123228632 single base substitution C T intron_variant MELA-AU 7 123228633 123228633 single base substitution C T intron_variant MELA-AU 7 123228731 123228731 single base substitution G A intron_variant MELA-AU 7 123228764 123228764 single base substitution C T intron_variant MELA-AU 7 123228859 123228859 single base substitution C T intron_variant MELA-AU 7 123228860 123228860 single base substitution C T intron_variant MELA-AU 7 123228930 123228930 single base substitution C T intron_variant MELA-AU 7 123228975 123228975 single base substitution T C intron_variant MELA-AU 7 123228983 123228983 single base substitution G A intron_variant MELA-AU 7 123229026 123229026 single base substitution C T intron_variant MELA-AU 7 123229111 123229111 single base substitution C T intron_variant MELA-AU 7 123229158 123229158 single base substitution C T intron_variant MELA-AU 7 123229249 123229249 single base substitution C T intron_variant MELA-AU 7 123229324 123229324 single base substitution C A intron_variant MELA-AU 7 123229381 123229381 single base substitution T C intron_variant MELA-AU 7 123229533 123229533 single base substitution C T intron_variant MELA-AU 7 123229545 123229545 single base substitution C T intron_variant MELA-AU 7 123229562 123229562 single base substitution C T intron_variant MELA-AU 7 123229655 123229655 single base substitution G A intron_variant MELA-AU 7 123229694 123229694 single base substitution G A intron_variant MELA-AU 7 123229695 123229695 single base substitution G A intron_variant MELA-AU 7 123229709 123229709 single base substitution C T intron_variant MELA-AU 7 123229764 123229764 single base substitution C T intron_variant MELA-AU 7 123229967 123229967 single base substitution T C intron_variant MELA-AU 7 123230033 123230033 single base substitution C T intron_variant MELA-AU 7 123230387 123230387 single base substitution C T intron_variant MELA-AU 7 123230424 123230424 single base substitution C T intron_variant MELA-AU 7 123230876 123230876 single base substitution C T intron_variant MELA-AU 7 123230958 123230958 single base substitution C T intron_variant MELA-AU 7 123230974 123230974 single base substitution C T intron_variant MELA-AU 7 123231084 123231084 single base substitution G A intron_variant MELA-AU 7 123231093 123231093 single base substitution G A intron_variant MELA-AU 7 123231125 123231125 single base substitution G A intron_variant MELA-AU 7 123231207 123231207 single base substitution T G intron_variant MELA-AU 7 123231213 123231213 single base substitution G A intron_variant MELA-AU 7 123231243 123231243 single base substitution G A intron_variant MELA-AU 7 123231266 123231266 single base substitution G A intron_variant MELA-AU 7 123231325 123231325 single base substitution C T intron_variant MELA-AU 7 123231440 123231440 single base substitution A G intron_variant MELA-AU 7 123231444 123231444 single base substitution G A intron_variant MELA-AU 7 123231564 123231564 single base substitution G A intron_variant MELA-AU 7 123231571 123231571 single base substitution G A intron_variant MELA-AU 7 123231581 123231581 single base substitution G A intron_variant MELA-AU 7 123231603 123231603 single base substitution G A intron_variant MELA-AU 7 123231646 123231646 single base substitution G A intron_variant MELA-AU 7 123231815 123231815 deletion of <=200bp T - intron_variant MELA-AU 7 123232287 123232287 single base substitution C T intron_variant MELA-AU 7 123232353 123232353 single base substitution G A intron_variant MELA-AU 7 123232453 123232453 single base substitution C T intron_variant MELA-AU 7 123232490 123232490 single base substitution C T intron_variant MELA-AU 7 123232553 123232553 single base substitution G A intron_variant MELA-AU 7 123232571 123232571 single base substitution C T intron_variant MELA-AU 7 123232774 123232774 single base substitution C T intron_variant MELA-AU 7 123232876 123232876 single base substitution C T intron_variant MELA-AU 7 123232906 123232906 single base substitution C T intron_variant MELA-AU 7 123232942 123232942 single base substitution T A intron_variant MELA-AU 7 123233240 123233240 single base substitution C T intron_variant MELA-AU 7 123233559 123233559 single base substitution G A intron_variant MELA-AU 7 123233604 123233604 single base substitution G A intron_variant MELA-AU 7 123233698 123233698 single base substitution C T intron_variant MELA-AU 7 123233827 123233827 single base substitution C T intron_variant MELA-AU 7 123233859 123233859 single base substitution C T intron_variant MELA-AU 7 123234077 123234077 single base substitution C G intron_variant MELA-AU 7 123234097 123234097 single base substitution G A intron_variant MELA-AU 7 123234179 123234179 single base substitution C T intron_variant MELA-AU 7 123234180 123234180 single base substitution C T intron_variant MELA-AU 7 123234217 123234217 single base substitution C G intron_variant MELA-AU 7 123234260 123234260 single base substitution C T intron_variant MELA-AU 7 123234272 123234272 single base substitution T C intron_variant MELA-AU 7 123234297 123234297 single base substitution G A intron_variant MELA-AU 7 123234370 123234370 single base substitution C T intron_variant MELA-AU 7 123234383 123234383 single base substitution G A intron_variant MELA-AU 7 123234384 123234384 single base substitution G A intron_variant MELA-AU 7 123234395 123234395 single base substitution C T intron_variant MELA-AU 7 123234426 123234426 single base substitution G A intron_variant MELA-AU 7 123234472 123234472 single base substitution C T intron_variant MELA-AU 7 123234554 123234554 single base substitution C T intron_variant MELA-AU 7 123234574 123234574 single base substitution C T intron_variant MELA-AU 7 123234632 123234632 single base substitution C T intron_variant MELA-AU 7 123234716 123234716 single base substitution C T intron_variant MELA-AU 7 123234722 123234722 single base substitution G A intron_variant MELA-AU 7 123234777 123234777 single base substitution T C intron_variant MELA-AU 7 123234806 123234806 single base substitution T A intron_variant MELA-AU 7 123234823 123234823 single base substitution C T intron_variant MELA-AU 7 123234830 123234830 single base substitution G A intron_variant MELA-AU 7 123235043 123235043 single base substitution C A intron_variant MELA-AU 7 123235106 123235106 single base substitution C T intron_variant MELA-AU 7 123235107 123235107 single base substitution G A intron_variant MELA-AU 7 123235196 123235196 single base substitution C T intron_variant MELA-AU 7 123235227 123235227 single base substitution C T intron_variant MELA-AU 7 123235304 123235304 single base substitution C T intron_variant MELA-AU 7 123235437 123235437 single base substitution C T intron_variant MELA-AU 7 123235484 123235484 single base substitution C T intron_variant MELA-AU 7 123235539 123235539 single base substitution G A intron_variant MELA-AU 7 123235546 123235546 single base substitution C A intron_variant MELA-AU 7 123235567 123235567 single base substitution T A intron_variant MELA-AU 7 123235770 123235770 single base substitution C G intron_variant MELA-AU 7 123235824 123235824 single base substitution G A intron_variant MELA-AU 7 123235837 123235837 single base substitution C T intron_variant MELA-AU 7 123235942 123235942 single base substitution A T intron_variant MELA-AU 7 123236007 123236007 single base substitution G A intron_variant MELA-AU 7 123236053 123236053 single base substitution C T intron_variant MELA-AU 7 123236100 123236100 single base substitution G A intron_variant MELA-AU 7 123236309 123236309 single base substitution A G intron_variant MELA-AU 7 123236322 123236322 single base substitution C T intron_variant MELA-AU 7 123236444 123236444 single base substitution G A intron_variant MELA-AU 7 123236620 123236620 single base substitution C T intron_variant MELA-AU 7 123236689 123236689 single base substitution G A intron_variant MELA-AU 7 123236880 123236880 single base substitution C T intron_variant MELA-AU 7 123237154 123237154 single base substitution T C intron_variant MELA-AU 7 123237154 123237154 single base substitution T C upstream_gene_variant MELA-AU 7 123237159 123237159 single base substitution G A intron_variant MELA-AU 7 123237159 123237159 single base substitution G A upstream_gene_variant MELA-AU 7 123237264 123237264 single base substitution C T intron_variant MELA-AU 7 123237264 123237264 single base substitution C T upstream_gene_variant MELA-AU 7 123237520 123237520 single base substitution G A intron_variant MELA-AU 7 123237520 123237520 single base substitution G A upstream_gene_variant MELA-AU 7 123237596 123237596 single base substitution C T intron_variant MELA-AU 7 123237596 123237596 single base substitution C T upstream_gene_variant MELA-AU 7 123237741 123237741 single base substitution A T intron_variant MELA-AU 7 123237741 123237741 single base substitution A T upstream_gene_variant MELA-AU 7 123237839 123237839 single base substitution C T intron_variant MELA-AU 7 123237839 123237839 single base substitution C T upstream_gene_variant MELA-AU 7 123237884 123237884 single base substitution G A intron_variant MELA-AU 7 123237884 123237884 single base substitution G A upstream_gene_variant MELA-AU 7 123237914 123237914 single base substitution G A intron_variant MELA-AU 7 123237914 123237914 single base substitution G A upstream_gene_variant MELA-AU 7 123238226 123238226 single base substitution C T intron_variant MELA-AU 7 123238226 123238226 single base substitution C T upstream_gene_variant MELA-AU 7 123238313 123238313 single base substitution A G intron_variant MELA-AU 7 123238313 123238313 single base substitution A G upstream_gene_variant MELA-AU 7 123238318 123238318 single base substitution C T intron_variant MELA-AU 7 123238318 123238318 single base substitution C T upstream_gene_variant MELA-AU 7 123238347 123238347 single base substitution G A intron_variant MELA-AU 7 123238347 123238347 single base substitution G A upstream_gene_variant MELA-AU 7 123238557 123238557 single base substitution G A intron_variant MELA-AU 7 123238557 123238557 single base substitution G A upstream_gene_variant MELA-AU 7 123238749 123238749 single base substitution C T intron_variant MELA-AU 7 123238749 123238749 single base substitution C T upstream_gene_variant MELA-AU 7 123239067 123239067 single base substitution G A intron_variant MELA-AU 7 123239067 123239067 single base substitution G A upstream_gene_variant MELA-AU 7 123239080 123239080 single base substitution G A intron_variant MELA-AU 7 123239080 123239080 single base substitution G A upstream_gene_variant MELA-AU 7 123239083 123239083 single base substitution T C intron_variant MELA-AU 7 123239083 123239083 single base substitution T C upstream_gene_variant MELA-AU 7 123239084 123239084 insertion of <=200bp - TTATATTC intron_variant MELA-AU 7 123239084 123239084 insertion of <=200bp - TTATATTC upstream_gene_variant MELA-AU 7 123239113 123239113 single base substitution A G intron_variant MELA-AU 7 123239113 123239113 single base substitution A G upstream_gene_variant MELA-AU 7 123239191 123239191 deletion of <=200bp G - intron_variant MELA-AU 7 123239191 123239191 deletion of <=200bp G - upstream_gene_variant MELA-AU 7 123239200 123239200 single base substitution G A intron_variant MELA-AU 7 123239200 123239200 single base substitution G A upstream_gene_variant MELA-AU 7 123239223 123239223 single base substitution G A intron_variant MELA-AU 7 123239223 123239223 single base substitution G A upstream_gene_variant MELA-AU 7 123239680 123239680 single base substitution C T intron_variant MELA-AU 7 123239680 123239680 single base substitution C T upstream_gene_variant MELA-AU 7 123239734 123239734 single base substitution C T intron_variant MELA-AU 7 123239734 123239734 single base substitution C T upstream_gene_variant MELA-AU 7 123240142 123240142 single base substitution G A intron_variant MELA-AU 7 123240142 123240142 single base substitution G A upstream_gene_variant MELA-AU 7 123240429 123240429 single base substitution C T intron_variant MELA-AU 7 123240429 123240429 single base substitution C T upstream_gene_variant MELA-AU 7 123240527 123240527 single base substitution A T intron_variant MELA-AU 7 123240527 123240527 single base substitution A T upstream_gene_variant MELA-AU 7 123240620 123240620 single base substitution C T intron_variant MELA-AU 7 123240620 123240620 single base substitution C T upstream_gene_variant MELA-AU 7 123240775 123240775 single base substitution C T intron_variant MELA-AU 7 123240775 123240775 single base substitution C T upstream_gene_variant MELA-AU 7 123240857 123240857 single base substitution C T intron_variant MELA-AU 7 123240857 123240857 single base substitution C T upstream_gene_variant MELA-AU 7 123241029 123241029 single base substitution G A intron_variant MELA-AU 7 123241029 123241029 single base substitution G A upstream_gene_variant MELA-AU 7 123241048 123241048 single base substitution G A intron_variant MELA-AU 7 123241048 123241048 single base substitution G A upstream_gene_variant MELA-AU 7 123241081 123241081 single base substitution C T intron_variant MELA-AU 7 123241081 123241081 single base substitution C T upstream_gene_variant MELA-AU 7 123241099 123241099 single base substitution G A intron_variant MELA-AU 7 123241099 123241099 single base substitution G A upstream_gene_variant MELA-AU 7 123241244 123241244 single base substitution T C intron_variant MELA-AU 7 123241244 123241244 single base substitution T C upstream_gene_variant MELA-AU 7 123241288 123241288 single base substitution C T intron_variant MELA-AU 7 123241288 123241288 single base substitution C T upstream_gene_variant MELA-AU 7 123241979 123241979 single base substitution G A intron_variant MELA-AU 7 123242274 123242274 single base substitution C T intron_variant MELA-AU 7 123242457 123242457 single base substitution G A intron_variant MELA-AU 7 123242499 123242499 single base substitution G A intron_variant MELA-AU 7 123242520 123242520 single base substitution G A intron_variant MELA-AU 7 123242525 123242525 single base substitution C T intron_variant MELA-AU 7 123242541 123242541 single base substitution C T intron_variant MELA-AU 7 123242636 123242636 single base substitution C T intron_variant MELA-AU 7 123242825 123242825 single base substitution G A intron_variant MELA-AU 7 123242858 123242858 single base substitution C T intron_variant MELA-AU 7 123243411 123243411 single base substitution C T intron_variant MELA-AU 7 123243423 123243423 single base substitution T A intron_variant MELA-AU 7 123243498 123243498 single base substitution C T intron_variant MELA-AU 7 123243525 123243525 single base substitution G A intron_variant MELA-AU 7 123243869 123243869 single base substitution G A intron_variant MELA-AU 7 123243869 123243869 single base substitution G A upstream_gene_variant MELA-AU 7 123243886 123243886 single base substitution G A intron_variant MELA-AU 7 123243886 123243886 single base substitution G A upstream_gene_variant MELA-AU 7 123244121 123244121 single base substitution C T 5_prime_UTR_variant MELA-AU 7 123244121 123244121 single base substitution C T intron_variant MELA-AU 7 123244121 123244121 single base substitution C T upstream_gene_variant MELA-AU 7 123244217 123244217 single base substitution G A 5_prime_UTR_variant MELA-AU 7 123244217 123244217 single base substitution G A intron_variant MELA-AU 7 123244217 123244217 single base substitution G A upstream_gene_variant MELA-AU 7 123244342 123244342 single base substitution G A intron_variant MELA-AU 7 123244342 123244342 single base substitution G A upstream_gene_variant MELA-AU 7 123244420 123244420 single base substitution G A intron_variant MELA-AU 7 123244420 123244420 single base substitution G A upstream_gene_variant MELA-AU 7 123244493 123244493 single base substitution C T intron_variant MELA-AU 7 123244493 123244493 single base substitution C T upstream_gene_variant MELA-AU 7 123244678 123244678 single base substitution G A intron_variant MELA-AU 7 123244678 123244678 single base substitution G A upstream_gene_variant MELA-AU 7 123244789 123244789 single base substitution G A intron_variant MELA-AU 7 123244789 123244789 single base substitution G A upstream_gene_variant MELA-AU 7 123244808 123244808 single base substitution G A intron_variant MELA-AU 7 123244808 123244808 single base substitution G A upstream_gene_variant MELA-AU 7 123244844 123244844 single base substitution G A intron_variant MELA-AU 7 123244844 123244844 single base substitution G A upstream_gene_variant MELA-AU 7 123244865 123244865 single base substitution G A intron_variant MELA-AU 7 123244865 123244865 single base substitution G A upstream_gene_variant MELA-AU 7 123244909 123244909 single base substitution C T intron_variant MELA-AU 7 123244909 123244909 single base substitution C T upstream_gene_variant MELA-AU 7 123244918 123244919 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 123244918 123244919 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 123245041 123245041 single base substitution C T intron_variant MELA-AU 7 123245041 123245041 single base substitution C T upstream_gene_variant MELA-AU 7 123245166 123245166 single base substitution G A intron_variant MELA-AU 7 123245166 123245166 single base substitution G A upstream_gene_variant MELA-AU 7 123245227 123245227 single base substitution G A intron_variant MELA-AU 7 123245227 123245227 single base substitution G A upstream_gene_variant MELA-AU 7 123245367 123245367 single base substitution G A intron_variant MELA-AU 7 123245367 123245367 single base substitution G A upstream_gene_variant MELA-AU 7 123245406 123245406 single base substitution G A intron_variant MELA-AU 7 123245406 123245406 single base substitution G A upstream_gene_variant MELA-AU 7 123245476 123245476 single base substitution G A intron_variant MELA-AU 7 123245476 123245476 single base substitution G A upstream_gene_variant MELA-AU 7 123245487 123245487 single base substitution G A intron_variant MELA-AU 7 123245487 123245487 single base substitution G A upstream_gene_variant MELA-AU 7 123245755 123245755 single base substitution G A intron_variant MELA-AU 7 123245755 123245755 single base substitution G A upstream_gene_variant MELA-AU 7 123245816 123245816 single base substitution C T intron_variant MELA-AU 7 123245816 123245816 single base substitution C T upstream_gene_variant MELA-AU 7 123245837 123245837 single base substitution G A intron_variant MELA-AU 7 123245837 123245837 single base substitution G A upstream_gene_variant MELA-AU 7 123245905 123245905 single base substitution G A intron_variant MELA-AU 7 123245905 123245905 single base substitution G A upstream_gene_variant MELA-AU 7 123246057 123246057 single base substitution A T intron_variant MELA-AU 7 123246057 123246057 single base substitution A T upstream_gene_variant MELA-AU 7 123246064 123246064 single base substitution A C intron_variant MELA-AU 7 123246064 123246064 single base substitution A C upstream_gene_variant MELA-AU 7 123246250 123246250 single base substitution C T intron_variant MELA-AU 7 123246250 123246250 single base substitution C T upstream_gene_variant MELA-AU 7 123246297 123246297 single base substitution G A intron_variant MELA-AU 7 123246297 123246297 single base substitution G A upstream_gene_variant MELA-AU 7 123246409 123246409 single base substitution C T intron_variant MELA-AU 7 123246409 123246409 single base substitution C T upstream_gene_variant MELA-AU 7 123246426 123246426 single base substitution C T intron_variant MELA-AU 7 123246426 123246426 single base substitution C T upstream_gene_variant MELA-AU 7 123246505 123246505 single base substitution C T intron_variant MELA-AU 7 123246505 123246505 single base substitution C T upstream_gene_variant MELA-AU 7 123246625 123246625 single base substitution T A intron_variant MELA-AU 7 123246625 123246625 single base substitution T A upstream_gene_variant MELA-AU 7 123246656 123246656 single base substitution A C intron_variant MELA-AU 7 123246656 123246656 single base substitution A C upstream_gene_variant MELA-AU 7 123246716 123246716 single base substitution C T intron_variant MELA-AU 7 123246716 123246716 single base substitution C T upstream_gene_variant MELA-AU 7 123246744 123246744 single base substitution G A intron_variant MELA-AU 7 123246744 123246744 single base substitution G A upstream_gene_variant MELA-AU 7 123246753 123246753 single base substitution C T intron_variant MELA-AU 7 123246753 123246753 single base substitution C T upstream_gene_variant MELA-AU 7 123246844 123246845 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 7 123246844 123246845 multiple base substitution (>=2bp and <=200bp) CT TA upstream_gene_variant MELA-AU 7 123246891 123246891 single base substitution C T intron_variant MELA-AU 7 123246891 123246891 single base substitution C T upstream_gene_variant MELA-AU 7 123247004 123247004 single base substitution C T intron_variant MELA-AU 7 123247004 123247004 single base substitution C T upstream_gene_variant MELA-AU 7 123247229 123247229 single base substitution A G intron_variant MELA-AU 7 123247229 123247229 single base substitution A G upstream_gene_variant MELA-AU 7 123247246 123247246 single base substitution C T intron_variant MELA-AU 7 123247246 123247246 single base substitution C T upstream_gene_variant MELA-AU 7 123247259 123247259 single base substitution G A intron_variant MELA-AU 7 123247259 123247259 single base substitution G A upstream_gene_variant MELA-AU 7 123247548 123247548 single base substitution A G intron_variant MELA-AU 7 123247548 123247548 single base substitution A G upstream_gene_variant MELA-AU 7 123247651 123247651 single base substitution C T intron_variant MELA-AU 7 123247651 123247651 single base substitution C T upstream_gene_variant MELA-AU 7 123247664 123247664 single base substitution C T intron_variant MELA-AU 7 123247664 123247664 single base substitution C T upstream_gene_variant MELA-AU 7 123247846 123247847 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 123247846 123247847 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 123247870 123247870 single base substitution G A intron_variant MELA-AU 7 123247870 123247870 single base substitution G A upstream_gene_variant MELA-AU 7 123248212 123248212 single base substitution T G intron_variant MELA-AU 7 123248212 123248212 single base substitution T G upstream_gene_variant MELA-AU 7 123248319 123248319 single base substitution C T intron_variant MELA-AU 7 123248319 123248319 single base substitution C T upstream_gene_variant MELA-AU 7 123248393 123248393 single base substitution T A intron_variant MELA-AU 7 123248393 123248393 single base substitution T A upstream_gene_variant MELA-AU 7 123248441 123248441 single base substitution C T intron_variant MELA-AU 7 123248441 123248441 single base substitution C T upstream_gene_variant MELA-AU 7 123248539 123248539 single base substitution G A intron_variant MELA-AU 7 123248539 123248539 single base substitution G A upstream_gene_variant MELA-AU 7 123248653 123248653 single base substitution C T 5_prime_UTR_variant MELA-AU 7 123248653 123248653 single base substitution C T intron_variant MELA-AU 7 123248653 123248653 single base substitution C T upstream_gene_variant MELA-AU 7 123248780 123248780 single base substitution G A intron_variant MELA-AU 7 123248780 123248780 single base substitution G A upstream_gene_variant MELA-AU 7 123248781 123248781 single base substitution G A intron_variant MELA-AU 7 123248781 123248781 single base substitution G A upstream_gene_variant MELA-AU 7 123248784 123248784 single base substitution A G intron_variant MELA-AU 7 123248784 123248784 single base substitution A G upstream_gene_variant MELA-AU 7 123248817 123248817 single base substitution G A intron_variant MELA-AU 7 123248817 123248817 single base substitution G A upstream_gene_variant MELA-AU 7 123249109 123249109 single base substitution C T 5_prime_UTR_variant MELA-AU 7 123249109 123249109 single base substitution C T intron_variant MELA-AU 7 123249109 123249109 single base substitution C T upstream_gene_variant MELA-AU 7 123249130 123249130 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 7 123249130 123249130 single base substitution C G intron_variant MELA-AU 7 123249190 123249190 single base substitution C T intron_variant MELA-AU 7 123249200 123249200 single base substitution G A intron_variant MELA-AU 7 123249223 123249223 single base substitution C T intron_variant MELA-AU 7 123249311 123249311 single base substitution C T intron_variant MELA-AU 7 123249452 123249452 single base substitution G A intron_variant MELA-AU 7 123249453 123249453 single base substitution G A intron_variant MELA-AU 7 123249739 123249739 single base substitution C T intron_variant MELA-AU 7 123249753 123249753 single base substitution G A intron_variant MELA-AU 7 123249758 123249758 single base substitution G A intron_variant MELA-AU 7 123249801 123249801 single base substitution G A intron_variant MELA-AU 7 123249845 123249845 single base substitution G A intron_variant MELA-AU 7 123250010 123250010 single base substitution G A intron_variant MELA-AU 7 123250046 123250046 single base substitution G A intron_variant MELA-AU 7 123250231 123250231 single base substitution C T intron_variant MELA-AU 7 123250339 123250339 single base substitution A G intron_variant MELA-AU 7 123250554 123250554 single base substitution T C intron_variant MELA-AU 7 123250564 123250564 single base substitution C T intron_variant MELA-AU 7 123250569 123250569 single base substitution G A intron_variant MELA-AU 7 123250595 123250595 single base substitution G A intron_variant MELA-AU 7 123250632 123250632 single base substitution G A intron_variant MELA-AU 7 123250659 123250659 single base substitution C T intron_variant MELA-AU 7 123250698 123250698 single base substitution C T intron_variant MELA-AU 7 123250789 123250789 single base substitution A G intron_variant MELA-AU 7 123250820 123250820 single base substitution G A intron_variant MELA-AU 7 123250840 123250840 single base substitution G A intron_variant MELA-AU 7 123250992 123250992 single base substitution C T intron_variant MELA-AU 7 123251004 123251004 single base substitution C A intron_variant MELA-AU 7 123251069 123251069 single base substitution G A intron_variant MELA-AU 7 123251106 123251106 single base substitution C T intron_variant MELA-AU 7 123251154 123251154 single base substitution A G intron_variant MELA-AU 7 123251213 123251213 single base substitution C T intron_variant MELA-AU 7 123251281 123251281 single base substitution C T intron_variant MELA-AU 7 123251289 123251289 single base substitution C T intron_variant MELA-AU 7 123251372 123251372 single base substitution G A intron_variant MELA-AU 7 123251412 123251412 single base substitution G A intron_variant MELA-AU 7 123251550 123251550 single base substitution C T intron_variant MELA-AU 7 123251571 123251571 single base substitution C T intron_variant MELA-AU 7 123251577 123251577 single base substitution C T intron_variant MELA-AU 7 123251644 123251644 single base substitution C T intron_variant MELA-AU 7 123251787 123251787 single base substitution C T intron_variant MELA-AU 7 123251895 123251895 single base substitution G A intron_variant MELA-AU 7 123251976 123251976 single base substitution G A intron_variant MELA-AU 7 123252168 123252168 single base substitution C T intron_variant MELA-AU 7 123252196 123252196 single base substitution C T intron_variant MELA-AU 7 123252198 123252198 single base substitution C T intron_variant MELA-AU 7 123252373 123252373 single base substitution G A 5_prime_UTR_variant MELA-AU 7 123252373 123252373 single base substitution G A intron_variant MELA-AU 7 123252387 123252387 single base substitution G A 5_prime_UTR_variant MELA-AU 7 123252387 123252387 single base substitution G A intron_variant MELA-AU 7 123252570 123252570 single base substitution G A intron_variant MELA-AU 7 123252658 123252658 single base substitution C T intron_variant MELA-AU 7 123252661 123252661 single base substitution G A intron_variant MELA-AU 7 123252672 123252672 single base substitution A T intron_variant MELA-AU 7 123252740 123252740 single base substitution A T intron_variant MELA-AU 7 123252772 123252772 single base substitution G A intron_variant MELA-AU 7 123252801 123252801 single base substitution G A intron_variant MELA-AU 7 123252816 123252816 single base substitution C T intron_variant MELA-AU 7 123252826 123252826 single base substitution T C intron_variant MELA-AU 7 123253007 123253007 single base substitution C T intron_variant MELA-AU 7 123253027 123253027 single base substitution C T intron_variant MELA-AU 7 123253130 123253130 single base substitution C T intron_variant MELA-AU 7 123253261 123253261 single base substitution G A intron_variant MELA-AU 7 123253391 123253391 single base substitution C T intron_variant MELA-AU 7 123253442 123253442 single base substitution C T intron_variant MELA-AU 7 123253576 123253576 single base substitution G A intron_variant MELA-AU 7 123253643 123253643 single base substitution G A intron_variant MELA-AU 7 123253946 123253946 single base substitution G A intron_variant MELA-AU 7 123254006 123254006 single base substitution G A intron_variant MELA-AU 7 123254007 123254007 single base substitution G A intron_variant MELA-AU 7 123254054 123254054 single base substitution C T intron_variant MELA-AU 7 123254448 123254448 single base substitution G A intron_variant MELA-AU 7 123254521 123254521 single base substitution A T intron_variant MELA-AU 7 123254521 123254521 single base substitution A T splice_region_variant MELA-AU 7 123254565 123254565 single base substitution T A synonymous_variant T3T 9T>A MELA-AU 7 123254717 123254717 single base substitution T C intron_variant MELA-AU 7 123254862 123254862 single base substitution G A intron_variant MELA-AU 7 123254899 123254899 single base substitution G A intron_variant MELA-AU 7 123255299 123255299 single base substitution C T intron_variant MELA-AU 7 123255321 123255321 single base substitution T C intron_variant MELA-AU 7 123255558 123255559 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 123255574 123255574 single base substitution G A intron_variant MELA-AU 7 123255588 123255588 single base substitution A G intron_variant MELA-AU 7 123255617 123255617 single base substitution C T intron_variant MELA-AU 7 123255645 123255645 single base substitution C T intron_variant MELA-AU 7 123255656 123255657 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 123255909 123255909 single base substitution C T intron_variant MELA-AU 7 123255943 123255943 single base substitution C T intron_variant MELA-AU 7 123255959 123255959 single base substitution G A intron_variant MELA-AU 7 123255989 123255989 single base substitution C T intron_variant MELA-AU 7 123256048 123256048 single base substitution C T intron_variant MELA-AU 7 123256220 123256220 single base substitution C T intron_variant MELA-AU 7 123256545 123256545 single base substitution G A synonymous_variant L96L 288G>A MELA-AU 7 123256556 123256556 single base substitution G A downstream_gene_variant MELA-AU 7 123256556 123256556 single base substitution G A splice_region_variant MELA-AU 7 123256675 123256675 single base substitution G A downstream_gene_variant MELA-AU 7 123256675 123256675 single base substitution G A intron_variant MELA-AU 7 123256689 123256689 single base substitution C T downstream_gene_variant MELA-AU 7 123256689 123256689 single base substitution C T intron_variant MELA-AU 7 123256720 123256720 single base substitution G A downstream_gene_variant MELA-AU 7 123256720 123256720 single base substitution G A intron_variant MELA-AU 7 123256738 123256738 single base substitution G A downstream_gene_variant MELA-AU 7 123256738 123256738 single base substitution G A intron_variant MELA-AU 7 123256771 123256771 single base substitution G A downstream_gene_variant MELA-AU 7 123256771 123256771 single base substitution G A intron_variant MELA-AU 7 123256781 123256781 single base substitution T C downstream_gene_variant MELA-AU 7 123256781 123256781 single base substitution T C intron_variant MELA-AU 7 123256947 123256947 single base substitution G A downstream_gene_variant MELA-AU 7 123256947 123256947 single base substitution G A intron_variant MELA-AU 7 123256954 123256954 single base substitution C T downstream_gene_variant MELA-AU 7 123256954 123256954 single base substitution C T intron_variant MELA-AU 7 123257108 123257108 single base substitution G A downstream_gene_variant MELA-AU 7 123257108 123257108 single base substitution G A intron_variant MELA-AU 7 123257297 123257297 single base substitution C T downstream_gene_variant MELA-AU 7 123257297 123257297 single base substitution C T intron_variant MELA-AU 7 123257394 123257394 single base substitution C T downstream_gene_variant MELA-AU 7 123257394 123257394 single base substitution C T intron_variant MELA-AU 7 123257426 123257426 single base substitution T G downstream_gene_variant MELA-AU 7 123257426 123257426 single base substitution T G intron_variant MELA-AU 7 123257583 123257583 single base substitution C T downstream_gene_variant MELA-AU 7 123257583 123257583 single base substitution C T intron_variant MELA-AU 7 123257713 123257713 single base substitution G A downstream_gene_variant MELA-AU 7 123257713 123257713 single base substitution G A missense_variant E125K 373G>A MELA-AU 7 123257782 123257782 single base substitution C T downstream_gene_variant MELA-AU 7 123257782 123257782 single base substitution C T missense_variant L148F 442C>T MELA-AU 7 123257800 123257801 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 123257800 123257801 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 123257965 123257965 single base substitution G A downstream_gene_variant MELA-AU 7 123257965 123257965 single base substitution G A intron_variant MELA-AU 7 123258029 123258029 single base substitution G A downstream_gene_variant MELA-AU 7 123258029 123258029 single base substitution G A intron_variant MELA-AU 7 123258030 123258030 single base substitution G A downstream_gene_variant MELA-AU 7 123258030 123258030 single base substitution G A intron_variant MELA-AU 7 123258037 123258037 single base substitution A T downstream_gene_variant MELA-AU 7 123258037 123258037 single base substitution A T intron_variant MELA-AU 7 123258174 123258174 single base substitution C A downstream_gene_variant MELA-AU 7 123258174 123258174 single base substitution C A intron_variant MELA-AU 7 123258361 123258361 single base substitution C T downstream_gene_variant MELA-AU 7 123258361 123258361 single base substitution C T intron_variant MELA-AU 7 123258386 123258386 single base substitution A G downstream_gene_variant MELA-AU 7 123258386 123258386 single base substitution A G intron_variant MELA-AU 7 123258539 123258539 single base substitution G A downstream_gene_variant MELA-AU 7 123258539 123258539 single base substitution G A intron_variant MELA-AU 7 123258622 123258622 single base substitution G C downstream_gene_variant MELA-AU 7 123258622 123258622 single base substitution G C intron_variant MELA-AU 7 123258647 123258647 single base substitution C T downstream_gene_variant MELA-AU 7 123258647 123258647 single base substitution C T intron_variant MELA-AU 7 123258700 123258700 single base substitution G A downstream_gene_variant MELA-AU 7 123258700 123258700 single base substitution G A intron_variant MELA-AU 7 123258768 123258768 single base substitution C T downstream_gene_variant MELA-AU 7 123258768 123258768 single base substitution C T intron_variant MELA-AU 7 123258798 123258799 multiple base substitution (>=2bp and <=200bp) TT CA downstream_gene_variant MELA-AU 7 123258798 123258799 multiple base substitution (>=2bp and <=200bp) TT CA intron_variant MELA-AU 7 123258859 123258860 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 123258859 123258860 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 123258930 123258930 single base substitution G A downstream_gene_variant MELA-AU 7 123258930 123258930 single base substitution G A intron_variant MELA-AU 7 123258977 123258977 single base substitution C T downstream_gene_variant MELA-AU 7 123258977 123258977 single base substitution C T intron_variant MELA-AU 7 123259005 123259005 single base substitution G A downstream_gene_variant MELA-AU 7 123259005 123259005 single base substitution G A intron_variant MELA-AU 7 123259019 123259019 single base substitution G A downstream_gene_variant MELA-AU 7 123259019 123259019 single base substitution G A intron_variant MELA-AU 7 123259097 123259097 single base substitution C T downstream_gene_variant MELA-AU 7 123259097 123259097 single base substitution C T intron_variant MELA-AU 7 123259129 123259129 single base substitution G A downstream_gene_variant MELA-AU 7 123259129 123259129 single base substitution G A intron_variant MELA-AU 7 123259183 123259183 single base substitution G A downstream_gene_variant MELA-AU 7 123259183 123259183 single base substitution G A intron_variant MELA-AU 7 123259213 123259213 single base substitution G A downstream_gene_variant MELA-AU 7 123259213 123259213 single base substitution G A intron_variant MELA-AU 7 123259485 123259485 single base substitution T C downstream_gene_variant MELA-AU 7 123259485 123259485 single base substitution T C intron_variant MELA-AU 7 123259493 123259493 single base substitution G A downstream_gene_variant MELA-AU 7 123259493 123259493 single base substitution G A intron_variant MELA-AU 7 123259577 123259577 single base substitution C T downstream_gene_variant MELA-AU 7 123259577 123259577 single base substitution C T intron_variant MELA-AU 7 123259701 123259702 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 123259701 123259702 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 123259954 123259954 single base substitution C T downstream_gene_variant MELA-AU 7 123259954 123259954 single base substitution C T intron_variant MELA-AU 7 123259955 123259955 single base substitution C T downstream_gene_variant MELA-AU 7 123259955 123259955 single base substitution C T intron_variant MELA-AU 7 123259963 123259963 single base substitution T A downstream_gene_variant MELA-AU 7 123259963 123259963 single base substitution T A intron_variant MELA-AU 7 123260232 123260232 single base substitution C T downstream_gene_variant MELA-AU 7 123260232 123260232 single base substitution C T intron_variant MELA-AU 7 123260285 123260285 single base substitution G A downstream_gene_variant MELA-AU 7 123260285 123260285 single base substitution G A intron_variant MELA-AU 7 123260320 123260320 single base substitution G A downstream_gene_variant MELA-AU 7 123260320 123260320 single base substitution G A intron_variant MELA-AU 7 123260366 123260366 single base substitution G A downstream_gene_variant MELA-AU 7 123260366 123260366 single base substitution G A intron_variant MELA-AU 7 123260689 123260689 single base substitution G A downstream_gene_variant MELA-AU 7 123260689 123260689 single base substitution G A intron_variant MELA-AU 7 123260862 123260862 single base substitution C T downstream_gene_variant MELA-AU 7 123260862 123260862 single base substitution C T intron_variant MELA-AU 7 123260954 123260954 single base substitution C A downstream_gene_variant MELA-AU 7 123260954 123260954 single base substitution C A intron_variant MELA-AU 7 123261262 123261262 single base substitution G A downstream_gene_variant MELA-AU 7 123261262 123261262 single base substitution G A intron_variant MELA-AU 7 123261381 123261381 single base substitution C T downstream_gene_variant MELA-AU 7 123261381 123261381 single base substitution C T intron_variant MELA-AU 7 123261424 123261424 single base substitution G A downstream_gene_variant MELA-AU 7 123261424 123261424 single base substitution G A intron_variant MELA-AU 7 123261508 123261508 single base substitution G A downstream_gene_variant MELA-AU 7 123261508 123261508 single base substitution G A intron_variant MELA-AU 7 123261549 123261549 single base substitution G A downstream_gene_variant MELA-AU 7 123261549 123261549 single base substitution G A intron_variant MELA-AU 7 123261578 123261578 single base substitution C T intron_variant MELA-AU 7 123261607 123261607 single base substitution G A intron_variant MELA-AU 7 123261641 123261641 single base substitution C T intron_variant MELA-AU 7 123261697 123261697 single base substitution C T intron_variant MELA-AU 7 123261698 123261698 single base substitution C T intron_variant MELA-AU 7 123261766 123261766 single base substitution C T intron_variant MELA-AU 7 123261894 123261894 single base substitution C T intron_variant MELA-AU 7 123261898 123261898 single base substitution G A intron_variant MELA-AU 7 123261939 123261939 single base substitution G A intron_variant MELA-AU 7 123261960 123261960 single base substitution G A intron_variant MELA-AU 7 123262101 123262101 single base substitution C T intron_variant MELA-AU 7 123262190 123262190 single base substitution T G intron_variant MELA-AU 7 123262455 123262455 single base substitution T A intron_variant MELA-AU 7 123262495 123262495 single base substitution G A intron_variant MELA-AU 7 123262528 123262528 single base substitution G A intron_variant MELA-AU 7 123262781 123262781 single base substitution G A intron_variant MELA-AU 7 123262993 123262993 single base substitution C T intron_variant MELA-AU 7 123263023 123263023 single base substitution C T intron_variant MELA-AU 7 123263275 123263275 single base substitution G A intron_variant MELA-AU 7 123263381 123263381 single base substitution G A intron_variant MELA-AU 7 123263382 123263382 single base substitution G A intron_variant MELA-AU 7 123263451 123263451 single base substitution G A intron_variant MELA-AU 7 123263475 123263475 single base substitution C T intron_variant MELA-AU 7 123263506 123263506 single base substitution G A intron_variant MELA-AU 7 123263737 123263737 single base substitution G A intron_variant MELA-AU 7 123263827 123263827 single base substitution A G intron_variant MELA-AU 7 123263961 123263961 single base substitution G A intron_variant MELA-AU 7 123263977 123263977 single base substitution A G intron_variant MELA-AU 7 123263990 123263990 single base substitution A G intron_variant MELA-AU 7 123264002 123264002 single base substitution A G intron_variant MELA-AU 7 123264146 123264146 single base substitution G A intron_variant MELA-AU 7 123264186 123264186 single base substitution C T intron_variant MELA-AU 7 123264479 123264479 single base substitution G A intron_variant MELA-AU 7 123264737 123264737 single base substitution G A missense_variant R189Q 566G>A MELA-AU 7 123265133 123265133 single base substitution G C intron_variant MELA-AU 7 123265265 123265265 single base substitution C T intron_variant MELA-AU 7 123265301 123265301 single base substitution C T intron_variant MELA-AU 7 123265405 123265405 single base substitution C T intron_variant MELA-AU 7 123265513 123265513 single base substitution T C intron_variant MELA-AU 7 123265540 123265540 single base substitution C T intron_variant MELA-AU 7 123265671 123265671 single base substitution C T intron_variant MELA-AU 7 123265719 123265719 single base substitution C T intron_variant MELA-AU 7 123265900 123265900 single base substitution G A intron_variant MELA-AU 7 123265977 123265977 single base substitution T A intron_variant MELA-AU 7 123266449 123266449 single base substitution C T intron_variant MELA-AU 7 123266778 123266778 single base substitution G A intron_variant MELA-AU 7 123266914 123266914 single base substitution C T intron_variant MELA-AU 7 123266925 123266925 single base substitution G A intron_variant MELA-AU 7 123266926 123266926 single base substitution G A intron_variant MELA-AU 7 123267556 123267556 single base substitution G A downstream_gene_variant MELA-AU 7 123267556 123267556 single base substitution G A intron_variant MELA-AU 7 123267654 123267654 single base substitution G A downstream_gene_variant MELA-AU 7 123267654 123267654 single base substitution G A intron_variant MELA-AU 7 123267689 123267689 single base substitution G A downstream_gene_variant MELA-AU 7 123267689 123267689 single base substitution G A intron_variant MELA-AU 7 123267723 123267723 single base substitution C T downstream_gene_variant MELA-AU 7 123267723 123267723 single base substitution C T intron_variant MELA-AU 7 123267890 123267890 single base substitution C T downstream_gene_variant MELA-AU 7 123267890 123267890 single base substitution C T intron_variant MELA-AU 7 123268286 123268286 single base substitution G A downstream_gene_variant MELA-AU 7 123268286 123268286 single base substitution G A intron_variant MELA-AU 7 123268455 123268455 single base substitution C T downstream_gene_variant MELA-AU 7 123268455 123268455 single base substitution C T intron_variant MELA-AU 7 123268655 123268655 single base substitution G A downstream_gene_variant MELA-AU 7 123268655 123268655 single base substitution G A intron_variant MELA-AU 7 123269098 123269098 single base substitution G A downstream_gene_variant MELA-AU 7 123269098 123269098 single base substitution G A synonymous_variant R350R 1050G>A MELA-AU 7 123269134 123269134 single base substitution C T downstream_gene_variant MELA-AU 7 123269134 123269134 single base substitution C T synonymous_variant D362D 1086C>T MELA-AU 7 123269136 123269136 single base substitution T C downstream_gene_variant MELA-AU 7 123269136 123269136 single base substitution T C missense_variant V363A 1088T>C MELA-AU 7 123269228 123269228 single base substitution G A downstream_gene_variant MELA-AU 7 123269228 123269228 single base substitution G A missense_variant E394K 1180G>A MELA-AU 7 123269545 123269545 single base substitution C T downstream_gene_variant MELA-AU 7 123269545 123269545 single base substitution C T intron_variant MELA-AU 7 123269671 123269671 single base substitution C T downstream_gene_variant MELA-AU 7 123269671 123269671 single base substitution C T intron_variant MELA-AU 7 123269675 123269675 single base substitution A G downstream_gene_variant MELA-AU 7 123269675 123269675 single base substitution A G intron_variant MELA-AU 7 123269781 123269781 single base substitution G A downstream_gene_variant MELA-AU 7 123269781 123269781 single base substitution G A intron_variant MELA-AU 7 123269791 123269791 single base substitution A G downstream_gene_variant MELA-AU 7 123269791 123269791 single base substitution A G intron_variant MELA-AU 7 123270013 123270013 single base substitution C T downstream_gene_variant MELA-AU 7 123270013 123270013 single base substitution C T splice_region_variant MELA-AU 7 123270074 123270074 single base substitution C T downstream_gene_variant MELA-AU 7 123270074 123270074 single base substitution C T missense_variant R499C 1495C>T MELA-AU 7 123270226 123270226 single base substitution G A downstream_gene_variant MELA-AU 7 123270226 123270226 single base substitution G A intron_variant MELA-AU 7 123270289 123270289 single base substitution C T downstream_gene_variant MELA-AU 7 123270289 123270289 single base substitution C T intron_variant MELA-AU 7 123270446 123270446 single base substitution C T downstream_gene_variant MELA-AU 7 123270446 123270446 single base substitution C T intron_variant MELA-AU 7 123270578 123270578 single base substitution G A downstream_gene_variant MELA-AU 7 123270578 123270578 single base substitution G A intron_variant MELA-AU 7 123271057 123271057 single base substitution G A downstream_gene_variant MELA-AU 7 123271057 123271057 single base substitution G A intron_variant MELA-AU 7 123271119 123271119 single base substitution C T downstream_gene_variant MELA-AU 7 123271119 123271119 single base substitution C T intron_variant MELA-AU 7 123271275 123271275 single base substitution T A downstream_gene_variant MELA-AU 7 123271275 123271275 single base substitution T A intron_variant MELA-AU 7 123271405 123271405 single base substitution A C downstream_gene_variant MELA-AU 7 123271405 123271405 single base substitution A C intron_variant MELA-AU 7 123271490 123271490 single base substitution G A downstream_gene_variant MELA-AU 7 123271490 123271490 single base substitution G A intron_variant MELA-AU 7 123271705 123271705 single base substitution G A downstream_gene_variant MELA-AU 7 123271705 123271705 single base substitution G A intron_variant MELA-AU 7 123271843 123271843 single base substitution G A downstream_gene_variant MELA-AU 7 123271843 123271843 single base substitution G A intron_variant MELA-AU 7 123271909 123271909 single base substitution G A downstream_gene_variant MELA-AU 7 123271909 123271909 single base substitution G A intron_variant MELA-AU 7 123271915 123271915 single base substitution G A downstream_gene_variant MELA-AU 7 123271915 123271915 single base substitution G A intron_variant MELA-AU 7 123271928 123271928 single base substitution C T downstream_gene_variant MELA-AU 7 123271928 123271928 single base substitution C T intron_variant MELA-AU 7 123272086 123272086 single base substitution C T downstream_gene_variant MELA-AU 7 123272086 123272086 single base substitution C T intron_variant MELA-AU 7 123272250 123272250 single base substitution G A intron_variant MELA-AU 7 123272263 123272263 single base substitution G A intron_variant MELA-AU 7 123272470 123272470 single base substitution G A intron_variant MELA-AU 7 123272572 123272572 single base substitution G A intron_variant MELA-AU 7 123272813 123272813 single base substitution G A intron_variant MELA-AU 7 123273150 123273150 single base substitution G A intron_variant MELA-AU 7 123273354 123273354 single base substitution A C intron_variant MELA-AU 7 123273415 123273415 single base substitution G A intron_variant MELA-AU 7 123273479 123273479 single base substitution A G intron_variant MELA-AU 7 123273514 123273514 single base substitution C T intron_variant MELA-AU 7 123273707 123273707 single base substitution C T intron_variant MELA-AU 7 123274028 123274028 single base substitution G A intron_variant MELA-AU 7 123274065 123274065 single base substitution G A intron_variant MELA-AU 7 123274191 123274191 single base substitution C T intron_variant MELA-AU 7 123274329 123274329 single base substitution C T intron_variant MELA-AU 7 123274407 123274407 single base substitution C T intron_variant MELA-AU 7 123274488 123274488 single base substitution C A intron_variant MELA-AU 7 123274835 123274835 single base substitution C T intron_variant MELA-AU 7 123274847 123274847 single base substitution G A intron_variant MELA-AU 7 123275048 123275048 single base substitution G A intron_variant MELA-AU 7 123275305 123275305 single base substitution C A intron_variant MELA-AU 7 123275438 123275438 single base substitution C T intron_variant MELA-AU 7 123276115 123276115 single base substitution C T intron_variant MELA-AU 7 123276449 123276449 single base substitution G A intron_variant MELA-AU 7 123276459 123276459 single base substitution G A intron_variant MELA-AU 7 123276581 123276581 single base substitution C T intron_variant MELA-AU 7 123276734 123276734 single base substitution C T intron_variant MELA-AU 7 123276892 123276892 single base substitution C T missense_variant R542W 1624C>T MELA-AU 7 123276978 123276978 single base substitution A C missense_variant Q570H 1710A>C MELA-AU 7 123277313 123277313 single base substitution C G 3_prime_UTR_variant MELA-AU 7 123277552 123277552 single base substitution A G 3_prime_UTR_variant MELA-AU 7 123277955 123277955 single base substitution C T downstream_gene_variant MELA-AU 7 123277959 123277959 single base substitution T A downstream_gene_variant MELA-AU 7 123277962 123277962 single base substitution C T downstream_gene_variant MELA-AU 7 123278114 123278114 single base substitution C T downstream_gene_variant MELA-AU 7 123278162 123278162 single base substitution C T downstream_gene_variant MELA-AU 7 123278252 123278252 single base substitution C T downstream_gene_variant MELA-AU 7 123278354 123278354 single base substitution T C downstream_gene_variant MELA-AU 7 123278531 123278531 single base substitution C T downstream_gene_variant MELA-AU 7 123278538 123278538 single base substitution G A downstream_gene_variant MELA-AU 7 123278656 123278656 single base substitution T C downstream_gene_variant MELA-AU 7 123278773 123278776 deletion of <=200bp TCTT - downstream_gene_variant MELA-AU 7 123278776 123278776 single base substitution T G downstream_gene_variant MELA-AU 7 123278798 123278798 single base substitution C T downstream_gene_variant MELA-AU 7 123279041 123279041 single base substitution G T downstream_gene_variant MELA-AU 7 123279139 123279139 single base substitution C T downstream_gene_variant MELA-AU 7 123279163 123279163 single base substitution C T downstream_gene_variant MELA-AU 7 123279179 123279179 single base substitution C T downstream_gene_variant MELA-AU 7 123279285 123279285 single base substitution C T downstream_gene_variant MELA-AU 7 123279604 123279604 single base substitution G A downstream_gene_variant MELA-AU 7 123279620 123279620 single base substitution G A downstream_gene_variant MELA-AU 7 123279770 123279770 single base substitution G A downstream_gene_variant MELA-AU 7 123279796 123279796 single base substitution C T downstream_gene_variant MELA-AU 7 123279808 123279808 single base substitution G A downstream_gene_variant MELA-AU 7 123280032 123280032 single base substitution G A downstream_gene_variant MELA-AU 7 123280364 123280364 single base substitution A G downstream_gene_variant MELA-AU 7 123280535 123280535 single base substitution C T downstream_gene_variant MELA-AU 7 123280543 123280543 single base substitution G A downstream_gene_variant MELA-AU 7 123281163 123281164 multiple base substitution (>=2bp and <=200bp) AG GA downstream_gene_variant MELA-AU 7 123281320 123281320 single base substitution G A downstream_gene_variant MELA-AU 7 123281581 123281581 single base substitution C T downstream_gene_variant MELA-AU 7 123281694 123281694 single base substitution G A downstream_gene_variant MELA-AU 7 123282424 123282424 single base substitution G A downstream_gene_variant MELA-AU 7 123282767 123282767 single base substitution C T downstream_gene_variant MELA-AU 7 123282814 123282814 single base substitution G A downstream_gene_variant MELA-AU 7 123282818 123282818 single base substitution G A downstream_gene_variant MELA-AU 7 123282930 123282930 single base substitution C T downstream_gene_variant ORCA-IN 7 123216835 123216835 single base substitution T A intron_variant ORCA-IN 7 123239044 123239044 single base substitution C T intron_variant ORCA-IN 7 123239044 123239044 single base substitution C T upstream_gene_variant OV-AU 7 123204094 123204094 single base substitution A G upstream_gene_variant OV-AU 7 123204670 123204670 single base substitution G A upstream_gene_variant OV-AU 7 123211131 123211131 single base substitution A T intron_variant OV-AU 7 123216807 123216807 single base substitution C G intron_variant OV-AU 7 123223174 123223174 single base substitution A G intron_variant OV-AU 7 123225657 123225657 single base substitution T G intron_variant OV-AU 7 123226611 123226611 single base substitution G C intron_variant OV-AU 7 123231337 123231337 single base substitution C A intron_variant OV-AU 7 123234218 123234218 single base substitution T C intron_variant OV-AU 7 123237990 123237990 single base substitution G T intron_variant OV-AU 7 123237990 123237990 single base substitution G T upstream_gene_variant OV-AU 7 123238968 123238968 single base substitution T A intron_variant OV-AU 7 123238968 123238968 single base substitution T A upstream_gene_variant OV-AU 7 123241813 123241813 single base substitution G A intron_variant OV-AU 7 123241813 123241813 single base substitution G A upstream_gene_variant OV-AU 7 123241876 123241876 single base substitution G C intron_variant OV-AU 7 123241876 123241876 single base substitution G C upstream_gene_variant OV-AU 7 123242898 123242898 single base substitution A G intron_variant OV-AU 7 123244213 123244213 single base substitution T G 5_prime_UTR_variant OV-AU 7 123244213 123244213 single base substitution T G intron_variant OV-AU 7 123244213 123244213 single base substitution T G upstream_gene_variant OV-AU 7 123245203 123245203 single base substitution G C intron_variant OV-AU 7 123245203 123245203 single base substitution G C upstream_gene_variant OV-AU 7 123245313 123245313 single base substitution A T intron_variant OV-AU 7 123245313 123245313 single base substitution A T upstream_gene_variant OV-AU 7 123253151 123253151 single base substitution G A intron_variant OV-AU 7 123254052 123254052 single base substitution A G intron_variant OV-AU 7 123254317 123254317 single base substitution G C intron_variant OV-AU 7 123254854 123254854 single base substitution C A intron_variant OV-AU 7 123259252 123259252 single base substitution A G downstream_gene_variant OV-AU 7 123259252 123259252 single base substitution A G intron_variant OV-AU 7 123262089 123262089 single base substitution A G intron_variant OV-AU 7 123265970 123265970 single base substitution A T intron_variant OV-AU 7 123269532 123269532 single base substitution T C downstream_gene_variant OV-AU 7 123269532 123269532 single base substitution T C intron_variant OV-AU 7 123269744 123269744 single base substitution T C downstream_gene_variant OV-AU 7 123269744 123269744 single base substitution T C intron_variant OV-AU 7 123275075 123275075 single base substitution A G intron_variant OV-AU 7 123276851 123276851 single base substitution G T intron_variant OV-AU 7 123277091 123277091 single base substitution A G 3_prime_UTR_variant OV-AU 7 123279848 123279848 single base substitution G C downstream_gene_variant OV-AU 7 123281766 123281766 single base substitution C G downstream_gene_variant OV-AU 7 123282151 123282151 single base substitution T C downstream_gene_variant PACA-AU 7 123205796 123205796 single base substitution G A upstream_gene_variant PACA-AU 7 123206084 123206084 single base substitution A G upstream_gene_variant PACA-AU 7 123209148 123209148 single base substitution A G intron_variant PACA-AU 7 123209898 123209898 deletion of <=200bp A - intron_variant PACA-AU 7 123220914 123220914 deletion of <=200bp A - intron_variant PACA-AU 7 123221585 123221585 single base substitution T G intron_variant PACA-AU 7 123221762 123221762 single base substitution A G intron_variant PACA-AU 7 123224006 123224006 single base substitution G A intron_variant PACA-AU 7 123225783 123225783 single base substitution G C intron_variant PACA-AU 7 123227801 123227801 single base substitution A G intron_variant PACA-AU 7 123233846 123233846 single base substitution G A intron_variant PACA-AU 7 123234371 123234371 single base substitution C T intron_variant PACA-AU 7 123243541 123243541 single base substitution G C intron_variant PACA-AU 7 123244767 123244770 deletion of <=200bp CTAC - intron_variant PACA-AU 7 123244767 123244770 deletion of <=200bp CTAC - upstream_gene_variant PACA-AU 7 123245408 123245408 single base substitution C T intron_variant PACA-AU 7 123245408 123245408 single base substitution C T upstream_gene_variant PACA-AU 7 123247920 123247920 single base substitution C A intron_variant PACA-AU 7 123247920 123247920 single base substitution C A upstream_gene_variant PACA-AU 7 123254639 123254639 single base substitution G A missense_variant S28N 83G>A PACA-AU 7 123259371 123259371 single base substitution T A downstream_gene_variant PACA-AU 7 123259371 123259371 single base substitution T A intron_variant PACA-AU 7 123259777 123259777 single base substitution C T downstream_gene_variant PACA-AU 7 123259777 123259777 single base substitution C T intron_variant PACA-AU 7 123260762 123260762 single base substitution G A downstream_gene_variant PACA-AU 7 123260762 123260762 single base substitution G A intron_variant PACA-AU 7 123260774 123260774 single base substitution G A downstream_gene_variant PACA-AU 7 123260774 123260774 single base substitution G A intron_variant PACA-AU 7 123262332 123262332 single base substitution T A intron_variant PACA-AU 7 123268926 123268926 single base substitution A G downstream_gene_variant PACA-AU 7 123268926 123268926 single base substitution A G missense_variant K293R 878A>G PACA-AU 7 123269135 123269135 single base substitution G A downstream_gene_variant PACA-AU 7 123269135 123269135 single base substitution G A missense_variant V363I 1087G>A PACA-AU 7 123269332 123269332 single base substitution C T downstream_gene_variant PACA-AU 7 123269332 123269332 single base substitution C T synonymous_variant D428D 1284C>T PACA-AU 7 123270501 123270501 single base substitution T G downstream_gene_variant PACA-AU 7 123270501 123270501 single base substitution T G intron_variant PACA-AU 7 123272540 123272540 single base substitution G A intron_variant PACA-AU 7 123273753 123273753 single base substitution G A intron_variant PACA-AU 7 123276019 123276019 single base substitution T G intron_variant PACA-AU 7 123278501 123278501 deletion of <=200bp A - downstream_gene_variant PACA-AU 7 123281923 123281923 single base substitution A G downstream_gene_variant PACA-AU 7 123281962 123281962 single base substitution G C downstream_gene_variant PACA-AU 7 123282123 123282123 single base substitution G T downstream_gene_variant PACA-CA 7 123203816 123203816 single base substitution C A upstream_gene_variant PACA-CA 7 123204353 123204353 single base substitution A C upstream_gene_variant PACA-CA 7 123204666 123204666 insertion of <=200bp - TG upstream_gene_variant PACA-CA 7 123208590 123208590 single base substitution A G intron_variant PACA-CA 7 123209545 123209545 single base substitution G T intron_variant PACA-CA 7 123209726 123209726 single base substitution A G intron_variant PACA-CA 7 123212322 123212322 single base substitution C T intron_variant PACA-CA 7 123212983 123212983 single base substitution T G intron_variant PACA-CA 7 123214262 123214262 single base substitution C T intron_variant PACA-CA 7 123215099 123215099 single base substitution T A intron_variant PACA-CA 7 123218839 123218839 single base substitution C T intron_variant PACA-CA 7 123219682 123219682 single base substitution A G intron_variant PACA-CA 7 123221983 123221986 deletion of <=200bp GATT - intron_variant PACA-CA 7 123222343 123222343 single base substitution A C intron_variant PACA-CA 7 123222713 123222713 single base substitution G A intron_variant PACA-CA 7 123223627 123223627 single base substitution C A intron_variant PACA-CA 7 123225112 123225112 single base substitution A T intron_variant PACA-CA 7 123229222 123229222 single base substitution T C intron_variant PACA-CA 7 123231462 123231462 single base substitution C A intron_variant PACA-CA 7 123233827 123233827 single base substitution C T intron_variant PACA-CA 7 123236732 123236732 single base substitution G T intron_variant PACA-CA 7 123236746 123236746 single base substitution G A intron_variant PACA-CA 7 123238302 123238302 single base substitution T C intron_variant PACA-CA 7 123238302 123238302 single base substitution T C upstream_gene_variant PACA-CA 7 123238658 123238658 single base substitution A G intron_variant PACA-CA 7 123238658 123238658 single base substitution A G upstream_gene_variant PACA-CA 7 123240322 123240322 single base substitution C T intron_variant PACA-CA 7 123240322 123240322 single base substitution C T upstream_gene_variant PACA-CA 7 123241718 123241718 single base substitution A G intron_variant PACA-CA 7 123241718 123241718 single base substitution A G upstream_gene_variant PACA-CA 7 123245783 123245783 single base substitution C T intron_variant PACA-CA 7 123245783 123245783 single base substitution C T upstream_gene_variant PACA-CA 7 123246779 123246779 single base substitution C T intron_variant PACA-CA 7 123246779 123246779 single base substitution C T upstream_gene_variant PACA-CA 7 123255857 123255857 single base substitution G T intron_variant PACA-CA 7 123261226 123261226 single base substitution G T downstream_gene_variant PACA-CA 7 123261226 123261226 single base substitution G T intron_variant PACA-CA 7 123262139 123262139 single base substitution G A intron_variant PACA-CA 7 123262423 123262423 single base substitution C G intron_variant PACA-CA 7 123266872 123266872 single base substitution A G intron_variant PACA-CA 7 123268699 123268699 single base substitution G A downstream_gene_variant PACA-CA 7 123268699 123268699 single base substitution G A intron_variant PACA-CA 7 123269134 123269134 single base substitution C T downstream_gene_variant PACA-CA 7 123269134 123269134 single base substitution C T synonymous_variant D362D 1086C>T PACA-CA 7 123270719 123270719 single base substitution A G downstream_gene_variant PACA-CA 7 123270719 123270719 single base substitution A G intron_variant PACA-CA 7 123271898 123271898 single base substitution C T downstream_gene_variant PACA-CA 7 123271898 123271898 single base substitution C T intron_variant PACA-CA 7 123274084 123274084 insertion of <=200bp - T intron_variant PACA-CA 7 123276296 123276296 single base substitution C G intron_variant PACA-CA 7 123276890 123276890 single base substitution G T missense_variant C541F 1622G>T PACA-CA 7 123282490 123282490 single base substitution C T downstream_gene_variant PAEN-AU 7 123233146 123233146 single base substitution C T intron_variant PAEN-AU 7 123264206 123264206 single base substitution A G intron_variant PAEN-IT 7 123214095 123214095 single base substitution A G intron_variant PAEN-IT 7 123230903 123230903 single base substitution G C intron_variant PAEN-IT 7 123233208 123233208 single base substitution C A intron_variant PAEN-IT 7 123247448 123247448 single base substitution T C intron_variant PAEN-IT 7 123247448 123247448 single base substitution T C upstream_gene_variant PAEN-IT 7 123266910 123266910 single base substitution G A intron_variant PBCA-DE 7 123206671 123206685 deletion of <=200bp AGAAGAAATATTTAT - upstream_gene_variant PBCA-DE 7 123209844 123209844 single base substitution C T intron_variant PBCA-DE 7 123216467 123216467 insertion of <=200bp - TG intron_variant PBCA-DE 7 123217264 123217264 single base substitution G A intron_variant PBCA-DE 7 123230826 123230826 deletion of <=200bp G - intron_variant PBCA-DE 7 123239307 123239307 deletion of <=200bp G - intron_variant PBCA-DE 7 123239307 123239307 deletion of <=200bp G - upstream_gene_variant PBCA-DE 7 123248126 123248126 single base substitution A T intron_variant PBCA-DE 7 123248126 123248126 single base substitution A T upstream_gene_variant PBCA-DE 7 123256643 123256643 single base substitution G T downstream_gene_variant PBCA-DE 7 123256643 123256643 single base substitution G T intron_variant PBCA-DE 7 123263668 123263668 single base substitution C T intron_variant PBCA-DE 7 123265690 123265690 single base substitution C A intron_variant PBCA-DE 7 123273669 123273670 deletion of <=200bp GT - intron_variant PBCA-DE 7 123279703 123279703 single base substitution T C downstream_gene_variant PBCA-DE 7 123281543 123281543 single base substitution A G downstream_gene_variant PRAD-CA 7 123214080 123214080 single base substitution C T intron_variant PRAD-CA 7 123232963 123232963 single base substitution C A intron_variant PRAD-CA 7 123239196 123239196 single base substitution A C intron_variant PRAD-CA 7 123239196 123239196 single base substitution A C upstream_gene_variant PRAD-CA 7 123253775 123253775 single base substitution C T intron_variant PRAD-CA 7 123259278 123259278 single base substitution G A downstream_gene_variant PRAD-CA 7 123259278 123259278 single base substitution G A intron_variant PRAD-UK 7 123203027 123203027 single base substitution G C upstream_gene_variant PRAD-UK 7 123206569 123206569 single base substitution C A upstream_gene_variant PRAD-UK 7 123206987 123206987 single base substitution A T upstream_gene_variant PRAD-UK 7 123208292 123208292 single base substitution C T intron_variant PRAD-UK 7 123208861 123208861 single base substitution A G intron_variant PRAD-UK 7 123216066 123216066 single base substitution G C intron_variant PRAD-UK 7 123228638 123228638 single base substitution T A intron_variant PRAD-UK 7 123234559 123234559 single base substitution C A intron_variant PRAD-UK 7 123239027 123239027 single base substitution A G intron_variant PRAD-UK 7 123239027 123239027 single base substitution A G upstream_gene_variant PRAD-UK 7 123239176 123239176 single base substitution A C intron_variant PRAD-UK 7 123239176 123239176 single base substitution A C upstream_gene_variant PRAD-UK 7 123240126 123240126 single base substitution T C intron_variant PRAD-UK 7 123240126 123240126 single base substitution T C upstream_gene_variant PRAD-UK 7 123242371 123242371 single base substitution G T intron_variant PRAD-UK 7 123246341 123246341 single base substitution A C intron_variant PRAD-UK 7 123246341 123246341 single base substitution A C upstream_gene_variant PRAD-UK 7 123256618 123256618 single base substitution T C downstream_gene_variant PRAD-UK 7 123256618 123256618 single base substitution T C intron_variant PRAD-UK 7 123259281 123259281 single base substitution G C downstream_gene_variant PRAD-UK 7 123259281 123259281 single base substitution G C intron_variant PRAD-UK 7 123260291 123260302 deletion of <=200bp ACGGAGGCCAGG - downstream_gene_variant PRAD-UK 7 123260291 123260302 deletion of <=200bp ACGGAGGCCAGG - intron_variant PRAD-UK 7 123262742 123262742 single base substitution C G intron_variant PRAD-US 7 123256478 123256478 deletion of <=200bp A - frameshift_variant E74 READ-US 7 123276904 123276904 single base substitution C T stop_gained R546* 1636C>T RECA-EU 7 123204976 123204976 single base substitution T C upstream_gene_variant RECA-EU 7 123209541 123209541 single base substitution T A intron_variant RECA-EU 7 123212301 123212301 single base substitution T C intron_variant RECA-EU 7 123216182 123216182 single base substitution A C intron_variant RECA-EU 7 123218608 123218608 single base substitution C A intron_variant RECA-EU 7 123222066 123222066 single base substitution C A intron_variant RECA-EU 7 123230578 123230578 single base substitution C T intron_variant RECA-EU 7 123251619 123251619 single base substitution G A intron_variant RECA-EU 7 123260348 123260348 single base substitution G C downstream_gene_variant RECA-EU 7 123260348 123260348 single base substitution G C intron_variant RECA-EU 7 123263973 123263973 single base substitution G A intron_variant RECA-EU 7 123279307 123279307 single base substitution T G downstream_gene_variant SKCA-BR 7 123202852 123202854 deletion of <=200bp CTT - upstream_gene_variant SKCA-BR 7 123204063 123204063 single base substitution C T upstream_gene_variant SKCA-BR 7 123204386 123204386 single base substitution A T upstream_gene_variant SKCA-BR 7 123205190 123205190 single base substitution C T upstream_gene_variant SKCA-BR 7 123205485 123205485 single base substitution C T upstream_gene_variant SKCA-BR 7 123205683 123205683 single base substitution C T upstream_gene_variant SKCA-BR 7 123207267 123207267 single base substitution C T intron_variant SKCA-BR 7 123207724 123207724 single base substitution C T intron_variant SKCA-BR 7 123209907 123209907 single base substitution G A intron_variant SKCA-BR 7 123210083 123210084 deletion of <=200bp CT - intron_variant SKCA-BR 7 123210490 123210490 single base substitution A G intron_variant SKCA-BR 7 123212839 123212839 single base substitution T C intron_variant SKCA-BR 7 123213226 123213226 single base substitution G A intron_variant SKCA-BR 7 123213980 123213980 single base substitution G A intron_variant SKCA-BR 7 123214590 123214590 single base substitution C T intron_variant SKCA-BR 7 123216768 123216768 single base substitution G A intron_variant SKCA-BR 7 123217896 123217896 single base substitution A T intron_variant SKCA-BR 7 123219229 123219229 single base substitution A G intron_variant SKCA-BR 7 123219324 123219324 single base substitution T C intron_variant SKCA-BR 7 123220260 123220260 single base substitution G A intron_variant SKCA-BR 7 123221406 123221406 single base substitution C T intron_variant SKCA-BR 7 123222019 123222019 single base substitution A C intron_variant SKCA-BR 7 123222102 123222102 single base substitution G A intron_variant SKCA-BR 7 123222264 123222264 single base substitution T C intron_variant SKCA-BR 7 123224026 123224026 single base substitution C T intron_variant SKCA-BR 7 123226065 123226065 single base substitution T C intron_variant SKCA-BR 7 123227190 123227190 single base substitution G T intron_variant SKCA-BR 7 123227298 123227298 single base substitution C T intron_variant SKCA-BR 7 123228574 123228574 single base substitution C T intron_variant SKCA-BR 7 123229229 123229229 single base substitution C T intron_variant SKCA-BR 7 123229407 123229407 single base substitution G A intron_variant SKCA-BR 7 123230674 123230674 single base substitution C T intron_variant SKCA-BR 7 123231125 123231125 single base substitution G A intron_variant SKCA-BR 7 123231950 123231950 single base substitution C T intron_variant SKCA-BR 7 123233033 123233033 single base substitution G A intron_variant SKCA-BR 7 123233413 123233413 single base substitution C T intron_variant SKCA-BR 7 123233827 123233827 single base substitution C T intron_variant SKCA-BR 7 123234097 123234097 single base substitution G A intron_variant SKCA-BR 7 123234149 123234149 single base substitution C T intron_variant SKCA-BR 7 123235542 123235542 single base substitution G A intron_variant SKCA-BR 7 123235546 123235546 single base substitution C T intron_variant SKCA-BR 7 123236273 123236273 single base substitution T C intron_variant SKCA-BR 7 123237976 123237976 insertion of <=200bp - GTGTGTGTA intron_variant SKCA-BR 7 123237976 123237976 insertion of <=200bp - GTGTGTGTA upstream_gene_variant SKCA-BR 7 123237978 123237978 insertion of <=200bp - GTGTGTA intron_variant SKCA-BR 7 123237978 123237978 insertion of <=200bp - GTGTGTA upstream_gene_variant SKCA-BR 7 123237984 123237984 single base substitution G A intron_variant SKCA-BR 7 123237984 123237984 single base substitution G A upstream_gene_variant SKCA-BR 7 123238006 123238006 insertion of <=200bp - GTGTT intron_variant SKCA-BR 7 123238006 123238006 insertion of <=200bp - GTGTT upstream_gene_variant SKCA-BR 7 123238845 123238845 single base substitution C T intron_variant SKCA-BR 7 123238845 123238845 single base substitution C T upstream_gene_variant SKCA-BR 7 123238917 123238917 single base substitution G A intron_variant SKCA-BR 7 123238917 123238917 single base substitution G A upstream_gene_variant SKCA-BR 7 123239386 123239386 single base substitution A C intron_variant SKCA-BR 7 123239386 123239386 single base substitution A C upstream_gene_variant SKCA-BR 7 123239611 123239611 single base substitution T G intron_variant SKCA-BR 7 123239611 123239611 single base substitution T G upstream_gene_variant SKCA-BR 7 123239813 123239813 single base substitution C T intron_variant SKCA-BR 7 123239813 123239813 single base substitution C T upstream_gene_variant SKCA-BR 7 123242433 123242433 single base substitution T A intron_variant SKCA-BR 7 123243440 123243440 single base substitution G A intron_variant SKCA-BR 7 123243573 123243573 single base substitution G A intron_variant SKCA-BR 7 123243765 123243765 single base substitution G A intron_variant SKCA-BR 7 123243765 123243765 single base substitution G A upstream_gene_variant SKCA-BR 7 123243804 123243804 single base substitution G A intron_variant SKCA-BR 7 123243804 123243804 single base substitution G A upstream_gene_variant SKCA-BR 7 123244031 123244031 single base substitution G A intron_variant SKCA-BR 7 123244031 123244031 single base substitution G A upstream_gene_variant SKCA-BR 7 123244623 123244623 single base substitution G A intron_variant SKCA-BR 7 123244623 123244623 single base substitution G A upstream_gene_variant SKCA-BR 7 123244642 123244642 single base substitution A G intron_variant SKCA-BR 7 123244642 123244642 single base substitution A G upstream_gene_variant SKCA-BR 7 123245739 123245739 single base substitution C T intron_variant SKCA-BR 7 123245739 123245739 single base substitution C T upstream_gene_variant SKCA-BR 7 123251108 123251108 single base substitution A G intron_variant SKCA-BR 7 123251412 123251412 single base substitution G A intron_variant SKCA-BR 7 123251585 123251585 single base substitution C T intron_variant SKCA-BR 7 123251681 123251681 single base substitution C T intron_variant SKCA-BR 7 123254049 123254049 single base substitution G A intron_variant SKCA-BR 7 123254293 123254293 single base substitution G A intron_variant SKCA-BR 7 123254518 123254518 single base substitution G A intron_variant SKCA-BR 7 123254569 123254569 single base substitution G A missense_variant D5N 13G>A SKCA-BR 7 123255401 123255401 single base substitution G A intron_variant SKCA-BR 7 123255471 123255471 single base substitution G A intron_variant SKCA-BR 7 123256668 123256668 single base substitution G A downstream_gene_variant SKCA-BR 7 123256668 123256668 single base substitution G A intron_variant SKCA-BR 7 123256864 123256864 single base substitution C T downstream_gene_variant SKCA-BR 7 123256864 123256864 single base substitution C T intron_variant SKCA-BR 7 123258539 123258539 single base substitution G A downstream_gene_variant SKCA-BR 7 123258539 123258539 single base substitution G A intron_variant SKCA-BR 7 123258658 123258658 single base substitution G A downstream_gene_variant SKCA-BR 7 123258658 123258658 single base substitution G A intron_variant SKCA-BR 7 123258799 123258800 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 7 123258799 123258800 deletion of <=200bp TA - intron_variant SKCA-BR 7 123258808 123258808 single base substitution A T downstream_gene_variant SKCA-BR 7 123258808 123258808 single base substitution A T intron_variant SKCA-BR 7 123259812 123259812 single base substitution C T downstream_gene_variant SKCA-BR 7 123259812 123259812 single base substitution C T intron_variant SKCA-BR 7 123260557 123260569 deletion of <=200bp CATACATATATAT - downstream_gene_variant SKCA-BR 7 123260557 123260569 deletion of <=200bp CATACATATATAT - intron_variant SKCA-BR 7 123260608 123260608 insertion of <=200bp - ATAT downstream_gene_variant SKCA-BR 7 123260608 123260608 insertion of <=200bp - ATAT intron_variant SKCA-BR 7 123261979 123261979 single base substitution G A intron_variant SKCA-BR 7 123262494 123262494 single base substitution G A intron_variant SKCA-BR 7 123262627 123262627 single base substitution C T intron_variant SKCA-BR 7 123263451 123263451 single base substitution G A intron_variant SKCA-BR 7 123263699 123263699 single base substitution C T intron_variant SKCA-BR 7 123266340 123266340 single base substitution T C intron_variant SKCA-BR 7 123266951 123266951 single base substitution C T intron_variant SKCA-BR 7 123267468 123267468 single base substitution C T downstream_gene_variant SKCA-BR 7 123267468 123267468 single base substitution C T intron_variant SKCA-BR 7 123267564 123267564 single base substitution A T downstream_gene_variant SKCA-BR 7 123267564 123267564 single base substitution A T intron_variant SKCA-BR 7 123269441 123269441 single base substitution G A downstream_gene_variant SKCA-BR 7 123269441 123269441 single base substitution G A missense_variant E465K 1393G>A SKCA-BR 7 123270291 123270291 single base substitution G A downstream_gene_variant SKCA-BR 7 123270291 123270291 single base substitution G A intron_variant SKCA-BR 7 123270763 123270763 single base substitution G A downstream_gene_variant SKCA-BR 7 123270763 123270763 single base substitution G A intron_variant SKCA-BR 7 123271548 123271548 single base substitution G A downstream_gene_variant SKCA-BR 7 123271548 123271548 single base substitution G A intron_variant SKCA-BR 7 123271805 123271805 single base substitution C T downstream_gene_variant SKCA-BR 7 123271805 123271805 single base substitution C T intron_variant SKCA-BR 7 123271909 123271909 single base substitution G A downstream_gene_variant SKCA-BR 7 123271909 123271909 single base substitution G A intron_variant SKCA-BR 7 123273668 123273668 insertion of <=200bp - AGT intron_variant SKCA-BR 7 123276916 123276916 single base substitution G A missense_variant G550S 1648G>A SKCA-BR 7 123278971 123278971 single base substitution C T downstream_gene_variant SKCA-BR 7 123279016 123279016 single base substitution C T downstream_gene_variant SKCA-BR 7 123279175 123279183 deletion of <=200bp TTTACCTTG - downstream_gene_variant SKCA-BR 7 123279476 123279476 single base substitution C T downstream_gene_variant SKCA-BR 7 123279581 123279581 single base substitution G A downstream_gene_variant SKCA-BR 7 123281315 123281315 single base substitution C T downstream_gene_variant SKCA-BR 7 123281870 123281871 deletion of <=200bp CA - downstream_gene_variant SKCM-US 7 123254628 123254628 single base substitution C T synonymous_variant S24S 72C>T SKCM-US 7 123256301 123256301 single base substitution G A missense_variant R45K 134G>A SKCM-US 7 123256545 123256545 single base substitution G A synonymous_variant L96L 288G>A SKCM-US 7 123257651 123257651 single base substitution G A downstream_gene_variant SKCM-US 7 123257651 123257651 single base substitution G A stop_gained W104* 311G>A SKCM-US 7 123257671 123257671 single base substitution G A downstream_gene_variant SKCM-US 7 123257671 123257671 single base substitution G A missense_variant G111R 331G>A SKCM-US 7 123257713 123257713 single base substitution G A downstream_gene_variant SKCM-US 7 123257713 123257713 single base substitution G A missense_variant E125K 373G>A SKCM-US 7 123257740 123257740 single base substitution G A downstream_gene_variant SKCM-US 7 123257740 123257740 single base substitution G A missense_variant G134R 400G>A SKCM-US 7 123264718 123264718 single base substitution G A missense_variant E183K 547G>A SKCM-US 7 123264737 123264737 single base substitution G A missense_variant R189Q 566G>A SKCM-US 7 123264747 123264747 single base substitution C T synonymous_variant I192I 576C>T SKCM-US 7 123264780 123264780 single base substitution C T synonymous_variant V203V 609C>T SKCM-US 7 123264794 123264794 single base substitution G A missense_variant G208E 623G>A SKCM-US 7 123264798 123264798 single base substitution T C synonymous_variant F209F 627T>C SKCM-US 7 123264837 123264837 single base substitution C T synonymous_variant H222H 666C>T SKCM-US 7 123267166 123267166 single base substitution G A missense_variant G234S 700G>A SKCM-US 7 123267179 123267179 single base substitution C T missense_variant A238V 713C>T SKCM-US 7 123267276 123267276 single base substitution T G downstream_gene_variant SKCM-US 7 123267276 123267276 single base substitution T G missense_variant N270K 810T>G SKCM-US 7 123267301 123267301 single base substitution C T downstream_gene_variant SKCM-US 7 123267301 123267301 single base substitution C T missense_variant P279S 835C>T SKCM-US 7 123267311 123267311 single base substitution G A downstream_gene_variant SKCM-US 7 123267311 123267311 single base substitution G A missense_variant R282Q 845G>A SKCM-US 7 123268983 123268983 single base substitution T G downstream_gene_variant SKCM-US 7 123268983 123268983 single base substitution T G missense_variant I312S 935T>G SKCM-US 7 123269101 123269101 single base substitution G C downstream_gene_variant SKCM-US 7 123269101 123269101 single base substitution G C missense_variant K351N 1053G>C SKCM-US 7 123269153 123269153 single base substitution C T downstream_gene_variant SKCM-US 7 123269153 123269153 single base substitution C T missense_variant L369F 1105C>T SKCM-US 7 123269216 123269216 single base substitution G A downstream_gene_variant SKCM-US 7 123269216 123269216 single base substitution G A missense_variant A390T 1168G>A SKCM-US 7 123269251 123269251 single base substitution C T downstream_gene_variant SKCM-US 7 123269251 123269251 single base substitution C T synonymous_variant S401S 1203C>T SKCM-US 7 123269336 123269336 single base substitution G A downstream_gene_variant SKCM-US 7 123269336 123269336 single base substitution G A missense_variant V430I 1288G>A SKCM-US 7 123270074 123270074 single base substitution C T downstream_gene_variant SKCM-US 7 123270074 123270074 single base substitution C T missense_variant R499C 1495C>T SKCM-US 7 123270105 123270105 single base substitution C T downstream_gene_variant SKCM-US 7 123270105 123270105 single base substitution C T missense_variant P509L 1526C>T SKCM-US 7 123270144 123270144 single base substitution G A downstream_gene_variant SKCM-US 7 123270144 123270144 single base substitution G A missense_variant R522K 1565G>A SKCM-US 7 123270153 123270153 single base substitution C A downstream_gene_variant SKCM-US 7 123270153 123270153 single base substitution C A missense_variant P525Q 1574C>A SKCM-US 7 123276868 123276868 single base substitution C T missense_variant P534S 1600C>T SKCM-US 7 123277012 123277012 single base substitution G A missense_variant G582R 1744G>A STAD-US 7 123256454 123256454 single base substitution A G missense_variant K66R 197A>G STAD-US 7 123264689 123264689 single base substitution C A missense_variant P173H 518C>A STAD-US 7 123267185 123267185 single base substitution C T missense_variant A240V 719C>T STAD-US 7 123267253 123267253 single base substitution C T downstream_gene_variant STAD-US 7 123267253 123267253 single base substitution C T synonymous_variant L263L 787C>T STAD-US 7 123269054 123269054 single base substitution A G downstream_gene_variant STAD-US 7 123269054 123269054 single base substitution A G missense_variant T336A 1006A>G STAD-US 7 123269126 123269126 single base substitution A G downstream_gene_variant STAD-US 7 123269126 123269126 single base substitution A G missense_variant N360D 1078A>G STAD-US 7 123269134 123269134 single base substitution C T downstream_gene_variant STAD-US 7 123269134 123269134 single base substitution C T synonymous_variant D362D 1086C>T STAD-US 7 123269456 123269456 single base substitution G T downstream_gene_variant STAD-US 7 123269456 123269456 single base substitution G T stop_gained G470* 1408G>T STAD-US 7 123270123 123270123 single base substitution A C downstream_gene_variant STAD-US 7 123270123 123270123 single base substitution A C missense_variant K515T 1544A>C STAD-US 7 123276892 123276892 single base substitution C T missense_variant R542W 1624C>T STAD-US 7 123276961 123276970 deletion of <=200bp CTACCACCAG - frameshift_variant LPPA565 UCEC-US 7 123254568 123254568 single base substitution T G missense_variant N4K 12T>G UCEC-US 7 123256274 123256274 single base substitution G T splice_acceptor_variant UCEC-US 7 123257785 123257785 single base substitution C A downstream_gene_variant UCEC-US 7 123257785 123257785 single base substitution C A missense_variant L149M 445C>A UCEC-US 7 123264751 123264751 single base substitution G A missense_variant A194T 580G>A UCEC-US 7 123268931 123268931 single base substitution C A downstream_gene_variant UCEC-US 7 123268931 123268931 single base substitution C A missense_variant L295I 883C>A UCEC-US 7 123269120 123269120 single base substitution G A downstream_gene_variant UCEC-US 7 123269120 123269120 single base substitution G A missense_variant V358I 1072G>A UCEC-US 7 123269343 123269343 single base substitution T G downstream_gene_variant UCEC-US 7 123269343 123269343 single base substitution T G missense_variant L432R 1295T>G UCEC-US 7 123269396 123269396 single base substitution C T downstream_gene_variant UCEC-US 7 123269396 123269396 single base substitution C T missense_variant H450Y 1348C>T UCEC-US 7 123276887 123276887 single base substitution T C missense_variant L540S 1619T>C UCEC-US 7 123276892 123276892 single base substitution C T missense_variant R542W 1624C>T UCEC-US 7 123276904 123276904 single base substitution C T stop_gained R546* 1636C>T UCEC-US 7 123276983 123276983 single base substitution A G missense_variant Y572C 1715A>G UCEC-US 7 123276991 123276991 single base substitution T G missense_variant F575V 1723T>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-R2-A69V-01 COSM4851150 c.103G>T p.E35* Substitution - Nonsense 7:123614605-123614605 + TCGA-A6-6141-01 COSM1447687 c.248C>T p.A83V Substitution - Missense 7:123616451-123616451 + T3090 COSM1312630 c.1087G>A p.V363I Substitution - Missense 7:123629081-123629081 + T2944 COSM175989 c.719C>T p.A240V Substitution - Missense 7:123627131-123627131 + PT23_1 COSM5902829 c.545A>T p.H182L Substitution - Missense 7:123624662-123624662 + CTS45 COSM5044882 c.25G>A p.E9K Substitution - Missense 7:123614527-123614527 + TCGA-EE-A2GI-06 COSM3632670 c.547G>A p.E183K Substitution - Missense 7:123624664-123624664 + S01861 COSM5671427 c.1624C>A p.R542R Substitution - coding silent 7:123636838-123636838 + TCGA-C5-A2LX-01 COSM4827420 c.615G>A p.L205L Substitution - coding silent 7:123624732-123624732 + TCGA-CZ-5468-01 COSM484723 c.736G>T p.V246L Substitution - Missense 7:123627148-123627148 + TCGA-BR-8680-01 COSM1084922 c.1624C>T p.R542W Substitution - Missense 7:123636838-123636838 + TCGA-ER-A19F-06 COSM3632680 c.935T>G p.I312S Substitution - Missense 7:123628929-123628929 + ESCC_141 COSM5643613 c.869T>G p.L290R Substitution - Missense 7:123627281-123627281 + HS1893 COSM304090 c.821G>A p.R274Q Substitution - Missense 7:123627233-123627233 + Pat_26_A COSM5871716 c.1180G>A p.E394K Substitution - Missense 7:123629174-123629174 + 12T COSM106600 c.25G>A p.E9K Substitution - Missense 7:123614527-123614527 + TCGA-B5-A11E-01 COSM1084924 c.1715A>G p.Y572C Substitution - Missense 7:123636929-123636929 + 8068033 COSM1158908 c.1284C>T p.D428D Substitution - coding silent 7:123629278-123629278 + PD18283a COSM3770433 c.160G>A p.G54S Substitution - Missense 7:123616273-123616273 + PT23_1 COSM5902830 c.545A>T p.H182L Substitution - Missense 7:123624662-123624662 + 1N51-VS-1T51 COSM4976696 c.1451T>G p.F484C Substitution - Missense 7:123629976-123629976 + T3446 COSM4663634 c.832C>A p.L278I Substitution - Missense 7:123627244-123627244 + YUFIT COSM5406378 c.1029C>T p.S343S Substitution - coding silent 7:123629023-123629023 + LUAD-D01278 COSM362995 c.383G>C p.R128T Substitution - Missense 7:123617669-123617669 + TCGA-FS-A1Z3-06 COSM2767419 c.623G>A p.G208E Substitution - Missense 7:123624740-123624740 + TCGA-18-3412-01 COSM744763 c.150C>A p.A50A Substitution - coding silent 7:123616263-123616263 + TCGA-IR-A3LI-01 COSM4846096 c.279G>A p.E93E Substitution - coding silent 7:123616482-123616482 + HT115 COSM2767418 c.589C>A p.L197M Substitution - Missense 7:123624706-123624706 + TCGA-EE-A29S-06 COSM3632661 c.72C>T p.S24S Substitution - coding silent 7:123614574-123614574 + SNUH_G16_S1 COSM4004272 c.170C>T p.P57L Substitution - Missense 7:123616373-123616373 + TCGA-EE-A2MK-06 COSM3632664 c.288G>A p.L96L Substitution - coding silent 7:123616491-123616491 + TCGA-FR-A3YO-06 COSM3632673 c.627T>C p.F209F Substitution - coding silent 7:123624744-123624744 + TCGA-FW-A3R5-06 COSM3922611 c.713C>T p.A238V Substitution - Missense 7:123627125-123627125 + TCGA-GN-A266-06 COSM3632684 c.1288G>A p.V430I Substitution - Missense 7:123629282-123629282 + SNUH_G16_S1 COSM3762348 c.633C>T p.V211V Substitution - coding silent 7:123624750-123624750 + CSCC-15-T COSM4545207 c.372G>A p.V124V Substitution - coding silent 7:123617658-123617658 + HCC121 COSM1622274 c.1594+8C>A p.? Unknown 7:123630127-123630127 + TCGA-CC-5258-01 COSM4933441 c.1446T>C p.C482C Substitution - coding silent 7:123629971-123629971 + LUAD-RT-S01813 COSM383520 c.568+9G>T p.? Unknown 7:123624694-123624694 + sysucc-444T COSM2767444 c.1583G>A p.R528H Substitution - Missense 7:123630108-123630108 + Pat_32_A COSM5871715 c.769G>A p.D257N Substitution - Missense 7:123627181-123627181 + TCGA-D9-A6EC-06 COSM4401528 c.311G>A p.W104* Substitution - Nonsense 7:123617597-123617597 + HT115 COSM1084922 c.1624C>T p.R542W Substitution - Missense 7:123636838-123636838 + TCGA-B0-4844-01 COSM3366751 c.313G>T p.E105* Substitution - Nonsense 7:123617599-123617599 + TCGA-B6-A0RE-01 COSM452248 c.159A>G p.Q53Q Substitution - coding silent 7:123616272-123616272 + LUAD-RT-S01813 COSM383519 c.577G>T p.V193L Substitution - Missense 7:123624694-123624694 + TCGA-CG-5721-01 COSM3877724 c.197A>G p.K66R Substitution - Missense 7:123616400-123616400 + CTS45 COSM106600 c.25G>A p.E9K Substitution - Missense 7:123614527-123614527 + BN05T COSM3662889 c.1382C>A p.S461* Substitution - Nonsense 7:123629376-123629376 + TCGA-D1-A17R-01 COSM1084920 c.1586A>G p.Q529R Substitution - Missense 7:123630111-123630111 + KM12 COSM2767384 c.144G>T p.V48V Substitution - coding silent 7:123616257-123616257 + K83 COSM249418 c.653C>G p.A218G Substitution - Missense 7:123624770-123624770 + Pat_24_B COSM1699300 c.46G>A p.D16N Substitution - Missense 7:123614548-123614548 + TCGA-A6-6780-01 COSM1447693 c.1745G>A p.G582E Substitution - Missense 7:123636959-123636959 + Pat_24_B COSM1699301 c.46G>A p.D16N Substitution - Missense 7:123614548-123614548 + TCGA-R2-A69V-01 COSM4851149 c.103G>T p.E35* Substitution - Nonsense 7:123614605-123614605 + TCGA-D1-A16X-01 COSM1084912 c.445C>A p.L149M Substitution - Missense 7:123617731-123617731 + Gp2D COSM2767394 c.258A>G p.Q86Q Substitution - coding silent 7:123616461-123616461 + TCGA-EE-A2MG-06 COSM3632688 c.1744G>A p.G582R Substitution - Missense 7:123636958-123636958 + PD4115a COSM219467 c.385A>T p.T129S Substitution - Missense 7:123617671-123617671 + T2269 COSM1447691 c.913C>T p.R305W Substitution - Missense 7:123628907-123628907 + TCGA-AP-A059-01 COSM1084915 c.883C>A p.L295I Substitution - Missense 7:123628877-123628877 + TCGA-F4-6461-01 COSM3698135 c.476T>C p.M159T Substitution - Missense 7:123624593-123624593 + TCGA-A6-6141-01 COSM1447686 c.248C>T p.A83V Substitution - Missense 7:123616451-123616451 + LUAD-S01315 COSM345896 c.1432G>C p.D478H Substitution - Missense 7:123629426-123629426 + TCGA-14-0789-01 COSM3411536 c.998A>G p.D333G Substitution - Missense 7:123628992-123628992 + TCGA-GN-A26C-01 COSM3632683 c.1203C>T p.S401S Substitution - coding silent 7:123629197-123629197 + TCGA-EE-A29V-06 COSM3632667 c.331G>A p.G111R Substitution - Missense 7:123617617-123617617 + TCGA-E2-A10B-01 COSM452250 c.1315G>A p.G439S Substitution - Missense 7:123629309-123629309 + TCGA-EE-A29S-06 COSM3632662 c.72C>T p.S24S Substitution - coding silent 7:123614574-123614574 + PD4115a COSM219468 c.385A>T p.T129S Substitution - Missense 7:123617671-123617671 + TCGA-D3-A3C8-06 COSM3632678 c.835C>T p.P279S Substitution - Missense 7:123627247-123627247 + TCGA-DA-A3F8-06 COSM3632675 c.577C>T p.L193L Substitution - coding silent 7:123624783-123624783 + YULAN COSM1699301 c.46G>A p.D16N Substitution - Missense 7:123614548-123614548 + TCGA-CM-6171-01 COSM1447690 c.634A>G p.T212A Substitution - Missense 7:123624751-123624751 + TCGA-CA-6718-01 COSM1447691 c.913C>T p.R305W Substitution - Missense 7:123628907-123628907 + B13-Tumor COSM254552 c.1339G>C p.D447H Substitution - Missense 7:123629333-123629333 + TCGA-GN-A266-06 COSM3632678 c.835C>T p.P279S Substitution - Missense 7:123627247-123627247 + L17 COSM304090 c.821G>A p.R274Q Substitution - Missense 7:123627233-123627233 + CSCC-27-T COSM4498711 c.525C>T p.V175V Substitution - coding silent 7:123624642-123624642 + 8047865 COSM1312630 c.1087G>A p.V363I Substitution - Missense 7:123629081-123629081 + 585208 COSM324758 c.1421G>C p.C474S Substitution - Missense 7:123629415-123629415 + 8016470 COSM3394503 c.83G>A p.S28N Substitution - Missense 7:123614585-123614585 + TCGA-IR-A3LI-01 COSM4846095 c.279G>A p.E93E Substitution - coding silent 7:123616482-123616482 + PD4115a COSM219467 c.385A>T p.T129S Substitution - Missense 7:123617671-123617671 + 8016470 COSM3394504 c.83G>A p.S28N Substitution - Missense 7:123614585-123614585 + CSCC-15-T COSM4545206 c.372G>A p.V124V Substitution - coding silent 7:123617658-123617658 + D01 COSM5543735 c.464G>A p.G155D Substitution - Missense 7:123624581-123624581 + TCGA-D1-A17Q-01 COSM1084923 c.1636C>T p.R546* Substitution - Nonsense 7:123636850-123636850 + B13 COSM254552 c.1339G>C p.D447H Substitution - Missense 7:123629333-123629333 + TCGA-06-0158-01 COSM2150105 c.1596G>A p.E532E Substitution - coding silent 7:123636810-123636810 + CSCC-20-T COSM3632661 c.72C>T p.S24S Substitution - coding silent 7:123614574-123614574 + TCGA-EI-6917-01 COSM1084923 c.1636C>T p.R546* Substitution - Nonsense 7:123636850-123636850 + S02342 COSM5693018 c.805G>T p.G269* Substitution - Nonsense 7:123627217-123627217 + TCGA-D9-A6EC-06 COSM4401529 c.311G>A p.W104* Substitution - Nonsense 7:123617597-123617597 + TCGA-EE-A2MI-06 COSM3632682 c.1168G>A p.A390T Substitution - Missense 7:123629162-123629162 + TCGA-EE-A2MK-06 COSM2767415 c.566G>A p.R189Q Substitution - Missense 7:123624683-123624683 + HCC115 COSM1622273 c.379G>T p.V127L Substitution - Missense 7:123617665-123617665 + 1848_T COSM3949852 c.1245C>A p.D415E Substitution - Missense 7:123629239-123629239 + T3064 COSM4663633 c.458A>G p.K153R Substitution - Missense 7:123624575-123624575 + 53M COSM5594226 c.952G>A p.G318R Substitution - Missense 7:123628946-123628946 + TCGA-AX-A05Z-01 COSM1084908 c.12T>G p.N4K Substitution - Missense 7:123614514-123614514 + LUAD-D01278 COSM362996 c.383G>C p.R128T Substitution - Missense 7:123617669-123617669 + TCGA-D3-A1Q6-06 COSM3632677 c.810T>G p.N270K Substitution - Missense 7:123627222-123627222 + TCGA-EB-A5UM-01 COSM3632663 c.134G>A p.R45K Substitution - Missense 7:123616247-123616247 + CSCC-11-T COSM4508661 c.783C>T p.L261L Substitution - coding silent 7:123627195-123627195 + CHEWS011 COSM4587086 c.1028C>A p.S343Y Substitution - Missense 7:123629022-123629022 + TCGA-D9-A6EC-06 COSM4402405 c.400G>A p.G134R Substitution - Missense 7:123617686-123617686 + HCC115T COSM1622272 c.379G>T p.V127L Substitution - Missense 7:123617665-123617665 + 05-P8014 COSM1084923 c.1636C>T p.R546* Substitution - Nonsense 7:123636850-123636850 + TCGA-AZ-4315-01 COSM1447688 c.416_417insA p.N141fs*2 Insertion - Frameshift 7:123617702-123617703 + 8034061 COSM3394505 c.878A>G p.K293R Substitution - Missense 7:123628872-123628872 + ICGC_0030 COSM1158908 c.1284C>T p.D428D Substitution - coding silent 7:123629278-123629278 + TCGA-06-0158 COSM2150105 c.1596G>A p.E532E Substitution - coding silent 7:123636810-123636810 + YUGATOR COSM5406377 c.447G>A p.L149L Substitution - coding silent 7:123617733-123617733 + C086 COSM3632668 c.373G>A p.E125K Substitution - Missense 7:123617659-123617659 + TCGA-LG-A6GG-01 COSM1319036 c.1058C>T p.A353V Substitution - Missense 7:123629052-123629052 + PD9752a COSM5786034 c.685C>A p.L229I Substitution - Missense 7:123624802-123624802 + TCGA-B5-A0JY-01 COSM1084917 c.1295T>G p.L432R Substitution - Missense 7:123629289-123629289 + HCT116 COSM2767435 c.1110G>T p.L370L Substitution - coding silent 7:123629104-123629104 + HCC054T COSM5809589 c.279G>T p.E93D Substitution - Missense 7:123616482-123616482 + CSCC-20-T COSM3632662 c.72C>T p.S24S Substitution - coding silent 7:123614574-123614574 + TCGA-BR-8368-01 COSM175989 c.719C>T p.A240V Substitution - Missense 7:123627131-123627131 + PD4115a COSM219468 c.385A>T p.T129S Substitution - Missense 7:123617671-123617671 + TCGA-AP-A051-01 COSM1084918 c.1348C>T p.H450Y Substitution - Missense 7:123629342-123629342 + TCGA-EE-A29V-06 COSM3632666 c.331G>A p.G111R Substitution - Missense 7:123617617-123617617 + K347 COSM249444 c.844C>T p.R282* Substitution - Nonsense 7:123627256-123627256 + PT37 COSM5919229 c.1735G>A p.D579N Substitution - Missense 7:123636949-123636949 + 2521249 COSM5887968 c.1462C>T p.P488S Substitution - Missense 7:123629987-123629987 + HCC115T COSM1622273 c.379G>T p.V127L Substitution - Missense 7:123617665-123617665 + TCGA-D1-A16J-01 COSM1084919 c.1558G>T p.V520L Substitution - Missense 7:123630083-123630083 + PD18283a COSM3770434 c.160G>A p.G54S Substitution - Missense 7:123616273-123616273 + YUMER COSM1699302 c.235C>T p.P79S Substitution - Missense 7:123616438-123616438 + TCGA-EE-A2GI-06 COSM3632671 c.547G>A p.E183K Substitution - Missense 7:123624664-123624664 + TCGA-CF-A3MI-01 COSM1312630 c.1087G>A p.V363I Substitution - Missense 7:123629081-123629081 + XHDG34 COSM4769430 c.461A>G p.K154R Substitution - Missense 7:123624578-123624578 + SC_9048 COSM5560575 c.206T>C p.M69T Substitution - Missense 7:123616409-123616409 + TCGA-EE-A3JD-06 COSM4394185 c.1105C>T p.L369F Substitution - Missense 7:123629099-123629099 + LP6005334-DNA_E03 COSM5032778 c.156A>T p.K52N Substitution - Missense 7:123616269-123616269 + YUMER COSM1699303 c.235C>T p.P79S Substitution - Missense 7:123616438-123616438 + TCGA-D7-A4YV-01 COSM3877729 c.1006A>G p.T336A Substitution - Missense 7:123629000-123629000 + TCGA-AP-A0LM-01 COSM1084922 c.1624C>T p.R542W Substitution - Missense 7:123636838-123636838 + TCGA-FS-A1ZC-06 COSM3632687 c.1600C>T p.P534S Substitution - Missense 7:123636814-123636814 + PTC-7C COSM3762348 c.633C>T p.V211V Substitution - coding silent 7:123624750-123624750 + TCGA-D3-A1Q8-06 COSM3632681 c.1053G>C p.K351N Substitution - Missense 7:123629047-123629047 + T1743 COSM4663635 c.1041C>T p.D347D Substitution - coding silent 7:123629035-123629035 + TCGA-AP-A059-01 COSM1084914 c.580G>A p.A194T Substitution - Missense 7:123624697-123624697 + TCGA-AP-A056-01 COSM1084923 c.1636C>T p.R546* Substitution - Nonsense 7:123636850-123636850 + D01 COSM5543734 c.464G>A p.G155D Substitution - Missense 7:123624581-123624581 + SF268 COSM1673503 c.1044T>A p.D348E Substitution - Missense 7:123629038-123629038 + HCC054T COSM5809588 c.279G>T p.E93D Substitution - Missense 7:123616482-123616482 + K44 COSM249158 c.1660_1661delCT p.C555fs*21 Deletion - Frameshift 7:123636874-123636875 + NCI-H2009 COSM24380 c.22G>A p.D8N Substitution - Missense 7:123614524-123614524 + ESCC_165 COSM1084922 c.1624C>T p.R542W Substitution - Missense 7:123636838-123636838 + TCGA-FW-A3R5-06 COSM2767417 c.568+8C>T p.? Unknown 7:123624693-123624693 + 139 COSM3720881 c.286C>T p.L96L Substitution - coding silent 7:123616489-123616489 + KYSE-150 COSM2767389 c.221delA p.G76fs*40 Deletion - Frameshift 7:123616424-123616424 + MDA-MB-435 COSM1673504 c.1605T>A p.C535* Substitution - Nonsense 7:123636819-123636819 + TCGA-B6-A0RE-01 COSM452249 c.159A>G p.Q53Q Substitution - coding silent 7:123616272-123616272 + Gp5D COSM2767394 c.258A>G p.Q86Q Substitution - coding silent 7:123616461-123616461 + TCGA-D3-A3C8-06 COSM3632672 c.609C>T p.V203V Substitution - coding silent 7:123624726-123624726 + TCGA-CG-5721-01 COSM3877725 c.197A>G p.K66R Substitution - Missense 7:123616400-123616400 + PT23_1 COSM5902831 c.347C>T p.T116I Substitution - Missense 7:123617633-123617633 + YUCLAT COSM1699307 c.1574C>A p.P525Q Substitution - Missense 7:123630099-123630099 + LUAD-YINHD COSM351503 c.447G>C p.L149L Substitution - coding silent 7:123617733-123617733 + TCGA-B0-4844-01 COSM3366752 c.313G>T p.E105* Substitution - Nonsense 7:123617599-123617599 + I2L-P25-Tumor-Organoid COSM5358302 c.355G>C p.V119L Substitution - Missense 7:123617641-123617641 + TCGA-DA-A3F8-06 COSM3632674 c.666C>T p.H222H Substitution - coding silent 7:123624783-123624783 + YULAN COSM1699300 c.46G>A p.D16N Substitution - Missense 7:123614548-123614548 + TCGA-CG-4466-01 COSM3877726 c.518C>A p.P173H Substitution - Missense 7:123624635-123624635 + HCC2998 COSM2767438 c.1249C>T p.R417C Substitution - Missense 7:123629243-123629243 + TCGA-BS-A0TC-01 COSM1084911 c.108-1G>T p.? Unknown 7:123616220-123616220 + Au4 COSM1699306 c.1495C>T p.R499C Substitution - Missense 7:123630020-123630020 + TCGA-AX-A05Z-01 COSM1084909 c.12T>G p.N4K Substitution - Missense 7:123614514-123614514 + OV207 COSM252362 c.752C>T p.A251V Substitution - Missense 7:123627164-123627164 + C086 COSM3632669 c.373G>A p.E125K Substitution - Missense 7:123617659-123617659 + sysucc-311T COSM5467000 c.483G>A p.S161S Substitution - coding silent 7:123624600-123624600 + KM12 COSM2767385 c.144G>T p.V48V Substitution - coding silent 7:123616257-123616257 + TCGA-BR-8487-01 COSM3877730 c.1078A>G p.N360D Substitution - Missense 7:123629072-123629072 + TCGA-EE-A29L-06 COSM3632668 c.373G>A p.E125K Substitution - Missense 7:123617659-123617659 + TCGA-CG-4466-01 COSM3877727 c.518C>A p.P173H Substitution - Missense 7:123624635-123624635 + TCGA-EB-A431-01 COSM3632676 c.700G>A p.G234S Substitution - Missense 7:123627112-123627112 + TCGA-EE-A181-06 COSM3632686 c.1565G>A p.R522K Substitution - Missense 7:123630090-123630090 + TCGA-FW-A3R5-06 COSM2767416 c.576C>T p.I192I Substitution - coding silent 7:123624693-123624693 + BD123T COSM5521080 c.1652T>C p.L551P Substitution - Missense 7:123636866-123636866 + 139 COSM3720880 c.286C>T p.L96L Substitution - coding silent 7:123616489-123616489 + HS3124 COSM304091 c.962C>T p.A321V Substitution - Missense 7:123628956-123628956 + TCGA-BS-A0TC-01 COSM1084910 c.108-1G>T p.? Unknown 7:123616220-123616220 + LOXIMVI COSM1684122 c.721delG p.D241fs*52 Deletion - Frameshift 7:123627133-123627133 + TCGA-BR-4184-01 COSM3877731 c.1408G>T p.G470* Substitution - Nonsense 7:123629402-123629402 + HT55 COSM2767436 c.1141C>T p.L381F Substitution - Missense 7:123629135-123629135 + TCGA-AM-5820-01 COSM3762349 c.1070G>C p.G357A Substitution - Missense 7:123629064-123629064 + 8013142 COSM1158908 c.1284C>T p.D428D Substitution - coding silent 7:123629278-123629278 + TCGA-BR-4201-01 COSM3877728 c.787C>T p.L263L Substitution - coding silent 7:123627199-123627199 + TCGA-AX-A05Z-01 COSM1084923 c.1636C>T p.R546* Substitution - Nonsense 7:123636850-123636850 + I2L-P25-Tumor-Organoid COSM5358301 c.355G>C p.V119L Substitution - Missense 7:123617641-123617641 + YUGAFFE COSM1699306 c.1495C>T p.R499C Substitution - Missense 7:123630020-123630020 + YUZEST COSM1699304 c.1112C>A p.A371D Substitution - Missense 7:123629106-123629106 + CSCC-10-T COSM4528827 c.1567G>A p.E523K Substitution - Missense 7:123630092-123630092 + C086 COSM5527005 c.1470G>A p.M490I Substitution - Missense 7:123629995-123629995 + TCGA-D1-A103-01 COSM1084921 c.1619T>C p.L540S Substitution - Missense 7:123636833-123636833 + TCGA-EE-A2MK-06 COSM3632665 c.288G>A p.L96L Substitution - coding silent 7:123616491-123616491 + YUMOBER COSM5406379 c.1525C>T p.P509S Substitution - Missense 7:123630050-123630050 + PT23_1 COSM5902832 c.347C>T p.T116I Substitution - Missense 7:123617633-123617633 + TCGA-AZ-4315-01 COSM1447692 c.1442T>G p.F481C Substitution - Missense 7:123629967-123629967 + TCGA-D1-A0ZR-01 COSM1084916 c.1072G>A p.V358I Substitution - Missense 7:123629066-123629066 + Gp2D COSM2767395 c.258A>G p.Q86Q Substitution - coding silent 7:123616461-123616461 + TCGA-D7-A4YV-01 COSM2767434 c.1086C>T p.D362D Substitution - coding silent 7:123629080-123629080 + cSCCP6 COSM136627 c.208G>A p.D70N Substitution - Missense 7:123616411-123616411 + M14 COSM1673504 c.1605T>A p.C535* Substitution - Nonsense 7:123636819-123636819 + BN05 COSM3662889 c.1382C>A p.S461* Substitution - Nonsense 7:123629376-123629376 + LP6005334-DNA_E03 COSM5032779 c.156A>T p.K52N Substitution - Missense 7:123616269-123616269 + TCGA-D1-A16Y-01 COSM1084925 c.1723T>G p.F575V Substitution - Missense 7:123636937-123636937 + KYSE-150 COSM2767388 c.221delA p.G76fs*40 Deletion - Frameshift 7:123616424-123616424 + TCGA-D1-A16X-01 COSM1084913 c.445C>A p.L149M Substitution - Missense 7:123617731-123617731 + T2583 COSM1084916 c.1072G>A p.V358I Substitution - Missense 7:123629066-123629066 + sysucc-311T COSM5467001 c.483G>A p.S161S Substitution - coding silent 7:123624600-123624600 + LUAD-RT-S01813 COSM383521 c.1327G>T p.E443* Substitution - Nonsense 7:123629321-123629321 + TCGA-BR-8589-01 COSM3877732 c.1544A>C p.K515T Substitution - Missense 7:123630069-123630069 + SNUH_G16_S1 COSM4004273 c.170C>T p.P57L Substitution - Missense 7:123616373-123616373 + TCGA-D9-A6EC-06 COSM4402404 c.400G>A p.G134R Substitution - Missense 7:123617686-123617686 + HCT116 COSM2767425 c.762C>T p.G254G Substitution - coding silent 7:123627174-123627174 + TCGA-85-6561-01 COSM744761 c.1495C>A p.R499S Substitution - Missense 7:123630020-123630020 + YUGATOR COSM5406380 c.1680G>A p.V560V Substitution - coding silent 7:123636894-123636894 + TCGA-DA-A1I0-06 COSM1699307 c.1574C>A p.P525Q Substitution - Missense 7:123630099-123630099 + HCC121T COSM1622274 c.1594+8C>A p.? Unknown 7:123630127-123630127 + K83 COSM249417 c.569-5C>G p.? Unknown 7:123624770-123624770 + TCGA-FS-A4FC-06 COSM3632685 c.1526C>T p.P509L Substitution - Missense 7:123630051-123630051 + XHDG34 COSM4769429 c.461A>G p.K154R Substitution - Missense 7:123624578-123624578 + PT55 COSM5942103 c.790G>A p.E264K Substitution - Missense 7:123627202-123627202 + TCGA-AB-2888-03 COSM1319036 c.1058C>T p.A353V Substitution - Missense 7:123629052-123629052 + MDA-N COSM1673504 c.1605T>A p.C535* Substitution - Nonsense 7:123636819-123636819 + TCGA-AM-5820-01 COSM3762348 c.633C>T p.V211V Substitution - coding silent 7:123624750-123624750 + 12T COSM110584 c.134G>A p.R45K Substitution - Missense 7:123616247-123616247 + TCGA-EB-A5UM-01 COSM110584 c.134G>A p.R45K Substitution - Missense 7:123616247-123616247 + PT08_1 COSM5893212 c.779C>T p.S260F Substitution - Missense 7:123627191-123627191 + CSCC-6-T COSM4528156 c.1515G>A p.M505I Substitution - Missense 7:123630040-123630040 + S00501 COSM5658529 c.1244A>G p.D415G Substitution - Missense 7:123629238-123629238 + ESCC_122 COSM1319036 c.1058C>T p.A353V Substitution - Missense 7:123629052-123629052 + 61 COSM5738133 c.931C>T p.P311S Substitution - Missense 7:123628925-123628925 + LUAD-YINHD COSM351504 c.612C>A p.H204Q Substitution - Missense 7:123624729-123624729 + T3064 COSM4663632 c.458A>G p.K153R Substitution - Missense 7:123624575-123624575 + TCGA-C5-A1BQ-01 COSM4841892 c.1662C>G p.L554L Substitution - coding silent 7:123636876-123636876 + LUAD-YINHD COSM351502 c.447G>C p.L149L Substitution - coding silent 7:123617733-123617733 + TCGA-18-3412-01 COSM744762 c.150C>A p.A50A Substitution - coding silent 7:123616263-123616263 + CSCC-7-T COSM4470335 c.1654C>T p.Q552* Substitution - Nonsense 7:123636868-123636868 + CSCC-27-T COSM4498710 c.525C>T p.V175V Substitution - coding silent 7:123624642-123624642 + TCGA-B5-A11N-01 COSM1084923 c.1636C>T p.R546* Substitution - Nonsense 7:123636850-123636850 + SC_9048 COSM5560574 c.206T>C p.M69T Substitution - Missense 7:123616409-123616409 + YUSWI COSM1699305 c.1154T>C p.L385P Substitution - Missense 7:123629148-123629148 + HCC115 COSM1622272 c.379G>T p.V127L Substitution - Missense 7:123617665-123617665 + Gp5D COSM2767395 c.258A>G p.Q86Q Substitution - coding silent 7:123616461-123616461 + TCGA-D3-A2J7-06 COSM3632679 c.845G>A p.R282Q Substitution - Missense 7:123627257-123627257 + TCGA-EE-A29L-06 COSM3632669 c.373G>A p.E125K Substitution - Missense 7:123617659-123617659 + YUGATOR COSM5406376 c.447G>A p.L149L Substitution - coding silent 7:123617733-123617733 + TCGA-DA-A3F8-06 COSM1699306 c.1495C>T p.R499C Substitution - Missense 7:123630020-123630020 + TCGA-AZ-4315-01 COSM1447689 c.416_417insA p.N141fs*2 Insertion - Frameshift 7:123617702-123617703 + B13 COSM254552 c.1339G>C p.D447H Substitution - Missense 7:123629333-123629333 + TCGA-EE-A2MK-06 COSM2767414 c.566G>A p.R189Q Substitution - Missense 7:123624683-123624683 + TCGA-F4-6461-01 COSM3698134 c.476T>C p.M159T Substitution - Missense 7:123624593-123624593 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.83765;Hs.83916 7q31.31

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - A 3-UTRInsertion . c.1764+34dupA 7 123277059 ESCA A G Missense p.D333G c.998A>G 7 123269046 GBM A G Missense p.N438D c.1312A>G 7 123269360 CM A G Synonymous p.Q53Q c.159A>G 7 123256326 BRCA A T Nonsense p.K562* c.1684A>T 7 123276952 STAD A T Synonymous p.P297P c.891A>T 7 123268939 LUAD C A Missense p.L278I c.832C>A 7 123267298 HNSC C A Missense p.P173H c.518C>A 7 123264689 STAD C A Missense p.P376Q c.1127C>A 7 123269175 LUAD C A Missense p.P525Q c.1574C>A 7 123270153 CM C A Missense p.R499S c.1495C>A 7 123270074 LUSC C A Synonymous p.A50A c.150C>A 7 123256317 LUSC C A Synonymous p.R528R c.1584C>A 7 123270163 HNSC CC AA Missense p.T108K c.323_324delinsAA 7 123257663 LUAD C T Missense p.A353V c.1058C>T 7 123269106 AML C T Missense p.L12F c.34C>T 7 123254590 CM C T Missense p.L369F c.1105C>T 7 123269153 CM C T Missense p.P279S c.835C>T 7 123267301 CM C T Missense p.P534S c.1600C>T 7 123276868 CM C T Missense p.R499C c.1495C>T 7 123270074 CM C T Missense p.S260F c.779C>T 7 123267245 CM C T Synonymous p.D428D c.1284C>T 7 123269332 PAAD C T Synonymous p.H222H c.666C>T 7 123264837 CM C T Synonymous p.L263L c.787C>T 7 123267253 STAD C T Synonymous p.S24S c.72C>T 7 123254628 CM C T Synonymous p.S401S c.1203C>T 7 123269251 CM C T Synonymous p.V203V c.609C>T 7 123264780 CM G A IntronicSNV . c.1-42746G>A 7 123211811 CLL G A Missense p.A390T c.1168G>A 7 123269216 CM G A Missense p.D242N c.724G>A 7 123267190 CM G A Missense p.E125K c.373G>A 7 123257713 CM G A Missense p.E183K c.547G>A 7 123264718 CM G A Missense p.E264K c.790G>A 7 123267256 CM G A Missense p.E394K c.1180G>A 7 123269228 CM G A Missense p.G111R c.331G>A 7 123257671 CM G A Missense p.G208E c.623G>A 7 123264794 CM G A Missense p.G439S c.1315G>A 7 123269363 BRCA G A Missense p.G582R c.1744G>A 7 123277012 CM G A Missense p.M505I c.1515G>A 7 123270094 CM G A Missense p.R189Q c.566G>A 7 123264737 CM G A Missense p.R282Q c.845G>A 7 123267311 CM G A Missense p.R522K c.1565G>A 7 123270144 CM G A Missense p.V358I c.1072G>A 7 123269120 UCEC G A Missense p.V363I c.1087G>A 7 123269135 BLCA G A Synonymous p.E532E c.1596G>A 7 123276864 GBM G C Missense p.C474S c.1421G>C 7 123269469 SCLC G C Missense p.D415H c.1243G>C 7 123269291 HNSC G C Missense p.D447H c.1339G>C 7 123269387 CLL G C Missense p.K351N c.1053G>C 7 123269101 CM G T IntronicSNV . c.452-2994G>T 7 123261629 PIA G T Missense p.M1I c.3G>T 7 123254559 LUAD G T Missense p.V246L c.736G>T 7 123267202 RCCC G T Nonsense p.E105* c.313G>T 7 123257653 RCCC G T Nonsense p.E183* c.547G>T 7 123264718 LUAD G T Nonsense p.G403* c.1207G>T 7 123269255 STAD G T SpliceAcceptorSNV . c.108-1G>T 7 123256274 UCEC G T Synonymous p.A240A c.720G>T 7 123267186 LUAD G T Synonymous p.A244A c.732G>T 7 123267198 LUAD T G Missense p.F575V c.1723T>G 7 123276991 UCEC T G Missense p.I312S c.935T>G 7 123268983 CM T G Missense p.N270K c.810T>G 7 123267276 CM