Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 7 5662766 5662766 + Missense_Mutation SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 g.chr7:5662766C>G c.2326G>C c.(2326-2328)Gag>Cag p.E776Q BLCA 7 5663694 5663694 + Missense_Mutation SNP C C A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 g.chr7:5663694C>A c.2274G>T c.(2272-2274)aaG>aaT p.K758N BLCA 7 5663714 5663714 + Missense_Mutation SNP C C T TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 g.chr7:5663714C>T c.2254G>A c.(2254-2256)Gaa>Aaa p.E752K BLCA 7 5680959 5680959 + Silent SNP C C T TCGA-4Z-AA7Y-01A-11D-A391-08 TCGA-4Z-AA7Y-10A-01D-A394-08 g.chr7:5680959C>T c.2037G>A c.(2035-2037)ggG>ggA p.G679G BLCA 7 5680995 5680995 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr7:5680995C>G c.2001G>C c.(1999-2001)atG>atC p.M667I BLCA 7 5751425 5751425 + Silent SNP C C T TCGA-BT-A42E-01A-11D-A23U-08 TCGA-BT-A42E-10A-01D-A23U-08 g.chr7:5751425C>T c.1857G>A c.(1855-1857)aaG>aaA p.K619K BLCA 7 5752476 5752476 + Missense_Mutation SNP C C G TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 g.chr7:5752476C>G c.1681G>C c.(1681-1683)Gaa>Caa p.E561Q BLCA 7 5754800 5754800 + Missense_Mutation SNP G G A TCGA-2F-A9KP-01A-11D-A38G-08 TCGA-2F-A9KP-10A-01D-A38J-08 g.chr7:5754800G>A c.1546C>T c.(1546-1548)Cgc>Tgc p.R516C BLCA 7 5760771 5760771 + Missense_Mutation SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr7:5760771G>A c.1366C>T c.(1366-1368)Ctt>Ttt p.L456F BLCA 7 5760784 5760784 + Missense_Mutation SNP C C A TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 g.chr7:5760784C>A c.1353G>T c.(1351-1353)aaG>aaT p.K451N BLCA 7 5769199 5769199 + Missense_Mutation SNP G G C TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr7:5769199G>C c.1082C>G c.(1081-1083)tCt>tGt p.S361C BLCA 7 5780604 5780604 + Splice_Site SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr7:5780604C>A c.873G>T c.(871-873)acG>acT p.T291T BLCA 7 5780687 5780687 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr7:5780687G>C c.790C>G c.(790-792)Caa>Gaa p.Q264E BLCA 7 5780726 5780726 + Missense_Mutation SNP C C T TCGA-4Z-AA81-01A-11D-A391-08 TCGA-4Z-AA81-10A-01D-A394-08 g.chr7:5780726C>T c.751G>A c.(751-753)Gat>Aat p.D251N BLCA 7 5780799 5780799 + Silent SNP C C G TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr7:5780799C>G c.678G>C c.(676-678)ggG>ggC p.G226G BLCA 7 5781006 5781006 + Missense_Mutation SNP C C G TCGA-YF-AA3L-01A-11D-A38G-08 TCGA-YF-AA3L-10A-01D-A38J-08 g.chr7:5781006C>G c.471G>C c.(469-471)gaG>gaC p.E157D BLCA 7 5781044 5781044 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 g.chr7:5781044C>T c.433G>A c.(433-435)Gaa>Aaa p.E145K BLCA 7 5781266 5781266 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 g.chr7:5781266C>G c.211G>C c.(211-213)Gag>Cag p.E71Q BLCA 7 5781290 5781290 + Intron SNP C C T TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chr7:5781290C>T BLCA 7 5781338 5781338 + Intron SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 g.chr7:5781338C>G BLCA 7 5781363 5781363 + Intron SNP C C T TCGA-FJ-A3Z9-01A-11D-A26M-08 TCGA-FJ-A3Z9-10A-01D-A26K-08 g.chr7:5781363C>T BLCA 7 5781384 5781384 + Intron SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 g.chr7:5781384C>G BLCA 7 5792611 5792611 + Splice_Site SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 g.chr7:5792611C>G c.e3-1 CESC 7 5663694 5663694 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr7:5663694C>T c.2274G>A c.(2272-2274)aaG>aaA p.K758K CESC 7 5780712 5780712 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr7:5780712A>G c.765T>C c.(763-765)ggT>ggC p.G255G COAD 7 5662731 5662731 + Silent SNP G G A TCGA-AA-3851-01A-01W-0995-10 TCGA-AA-3851-10A-01W-0995-10 g.chr7:5662731G>A c.2361C>T c.(2359-2361)ccC>ccT p.P787P COAD 7 5680884 5680884 + Silent SNP T T C TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr7:5680884T>C c.2112A>G c.(2110-2112)cgA>cgG p.R704R COAD 7 5754798 5754798 + Silent SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr7:5754798G>A c.1548C>T c.(1546-1548)cgC>cgT p.R516R COAD 7 5756345 5756345 + Splice_Site SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr7:5756345A>G c.e10+1 COAD 7 5765012 5765012 + Frame_Shift_Del DEL T T - TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr7:5765012delT c.1276delA c.(1276-1278)aggfs p.R426fs COAD 7 5765046 5765046 + Frame_Shift_Del DEL T T - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr7:5765046delT c.1242delA c.(1240-1242)aaafs p.K414fs COAD 7 5769125 5769125 + Missense_Mutation SNP T T C TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr7:5769125T>C c.1156A>G c.(1156-1158)Agt>Ggt p.S386G COAD 7 5769140 5769140 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr7:5769140C>T c.1141G>A c.(1141-1143)Gac>Aac p.D381N COAD 7 5769212 5769212 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:5769212A>C c.1069T>G c.(1069-1071)Ttt>Gtt p.F357V COAD 7 5780604 5780604 + Splice_Site SNP C C A TCGA-AA-3496-01A-21D-1835-10 TCGA-AA-3496-11A-01D-1835-10 g.chr7:5780604C>A c.873G>T c.(871-873)acG>acT p.T291T COAD 7 5780945 5780945 + Missense_Mutation SNP A A G TCGA-AZ-6603-01A-11D-1835-10 TCGA-AZ-6603-11A-02D-1835-10 g.chr7:5780945A>G c.532T>C c.(532-534)Ttc>Ctc p.F178L COAD 7 5780945 5780945 + Missense_Mutation SNP A A G TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr7:5780945A>G c.532T>C c.(532-534)Ttc>Ctc p.F178L COAD 7 5781017 5781017 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:5781017T>G c.460A>C c.(460-462)Aat>Cat p.N154H COAD 7 5800681 5800681 + Missense_Mutation SNP T T C TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr7:5800681T>C c.20A>G c.(19-21)aAt>aGt p.N7S COADREAD 7 5662731 5662731 + Silent SNP G G A TCGA-AA-3851-01A-01W-0995-10 TCGA-AA-3851-10A-01W-0995-10 g.chr7:5662731G>A c.2361C>T c.(2359-2361)ccC>ccT p.P787P COADREAD 7 5680884 5680884 + Silent SNP T T C TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr7:5680884T>C c.2112A>G c.(2110-2112)cgA>cgG p.R704R COADREAD 7 5754798 5754798 + Silent SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr7:5754798G>A c.1548C>T c.(1546-1548)cgC>cgT p.R516R COADREAD 7 5756345 5756345 + Splice_Site SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr7:5756345A>G c.e10+1 COADREAD 7 5765012 5765012 + Frame_Shift_Del DEL T T - TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr7:5765012delT c.1276delA c.(1276-1278)aggfs p.R426fs COADREAD 7 5765046 5765046 + Frame_Shift_Del DEL T T - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr7:5765046delT c.1242delA c.(1240-1242)aaafs p.K414fs COADREAD 7 5769125 5769125 + Missense_Mutation SNP T T C TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr7:5769125T>C c.1156A>G c.(1156-1158)Agt>Ggt p.S386G COADREAD 7 5769140 5769140 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr7:5769140C>T c.1141G>A c.(1141-1143)Gac>Aac p.D381N COADREAD 7 5769212 5769212 + Missense_Mutation SNP A A C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr7:5769212A>C c.1069T>G c.(1069-1071)Ttt>Gtt p.F357V COADREAD 7 5778927 5778927 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:5778927C>A c.930G>T c.(928-930)aaG>aaT p.K310N COADREAD 7 5780604 5780604 + Splice_Site SNP C C A TCGA-AA-3496-01A-21D-1835-10 TCGA-AA-3496-11A-01D-1835-10 g.chr7:5780604C>A c.873G>T c.(871-873)acG>acT p.T291T COADREAD 7 5780945 5780945 + Missense_Mutation SNP A A G TCGA-AZ-6603-01A-11D-1835-10 TCGA-AZ-6603-11A-02D-1835-10 g.chr7:5780945A>G c.532T>C c.(532-534)Ttc>Ctc p.F178L COADREAD 7 5780945 5780945 + Missense_Mutation SNP A A G TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr7:5780945A>G c.532T>C c.(532-534)Ttc>Ctc p.F178L COADREAD 7 5781017 5781017 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:5781017T>G c.460A>C c.(460-462)Aat>Cat p.N154H COADREAD 7 5800681 5800681 + Missense_Mutation SNP T T C TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr7:5800681T>C c.20A>G c.(19-21)aAt>aGt p.N7S DLBC 7 5662542 5662542 + Silent SNP C C T TCGA-FA-8693-01A-11D-2397-10 TCGA-FA-8693-10A-01D-2397-10 g.chr7:5662542C>T c.2550G>A c.(2548-2550)ctG>ctA p.L850L DLBC 7 5765034 5765034 + Silent SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr7:5765034C>T c.1254G>A c.(1252-1254)ctG>ctA p.L418L ESCA 7 5760759 5760759 + Nonsense_Mutation SNP G G A TCGA-LN-A4MQ-01A-11D-A28B-09 TCGA-LN-A4MQ-10A-01D-A28E-09 g.chr7:5760759G>A c.1378C>T c.(1378-1380)Cga>Tga p.R460* GBMLGG 7 5662580 5662580 + Missense_Mutation SNP G G A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 g.chr7:5662580G>A c.2512C>T c.(2512-2514)Cgg>Tgg p.R838W GBMLGG 7 5692115 5692115 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:5692115G>A c.1917C>T c.(1915-1917)ctC>ctT p.L639L GBMLGG 7 5781284 5781284 + Intron SNP C C T TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 g.chr7:5781284C>T GBMLGG 7 5781361 5781361 + Intron SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:5781361G>T HNSC 7 5662575 5662575 + Silent SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr7:5662575G>A c.2517C>T c.(2515-2517)gtC>gtT p.V839V HNSC 7 5662592 5662592 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr7:5662592G>C c.2500C>G c.(2500-2502)Ctg>Gtg p.L834V HNSC 7 5662726 5662726 + Missense_Mutation SNP G G A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 g.chr7:5662726G>A c.2366C>T c.(2365-2367)cCg>cTg p.P789L HNSC 7 5769095 5769095 + Missense_Mutation SNP C C T TCGA-UF-A7JD-01A-11D-A34J-08 TCGA-UF-A7JD-10A-01D-A34M-08 g.chr7:5769095C>T c.1186G>A c.(1186-1188)Gag>Aag p.E396K HNSC 7 5778919 5778919 + Missense_Mutation SNP T T C TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 g.chr7:5778919T>C c.938A>G c.(937-939)tAt>tGt p.Y313C HNSC 7 5780720 5780720 + Missense_Mutation SNP C C G TCGA-D6-6826-01A-11D-1912-08 TCGA-D6-6826-10A-01D-1912-08 g.chr7:5780720C>G c.757G>C c.(757-759)Gag>Cag p.E253Q HNSC 7 5781327 5781327 + Intron SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 g.chr7:5781327C>G HNSC 7 5800679 5800679 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 g.chr7:5800679C>T c.22G>A c.(22-24)Gaa>Aaa p.E8K KIPAN 7 5752486 5752486 + Silent SNP G G T TCGA-B8-5158-01A-01D-1421-08 TCGA-B8-5158-10A-01D-1421-08 g.chr7:5752486G>T c.1671C>A c.(1669-1671)ctC>ctA p.L557L KIPAN 7 5781025 5781025 + Missense_Mutation SNP A A G TCGA-BQ-5876-01A-11D-1589-08 TCGA-BQ-5876-11A-01D-1589-08 g.chr7:5781025A>G c.452T>C c.(451-453)cTg>cCg p.L151P KIPAN 7 5781127 5781127 + Nonsense_Mutation SNP G G C TCGA-P4-A5EB-01A-11D-A28G-10 TCGA-P4-A5EB-11A-11D-A28G-10 g.chr7:5781127G>C c.350C>G c.(349-351)tCa>tGa p.S117* KIPAN 7 5781389 5781389 + Intron SNP C C T TCGA-BP-4781-01A-01D-1373-10 TCGA-BP-4781-11A-01D-1373-10 g.chr7:5781389C>T KIPAN 7 5792508 5792510 + In_Frame_Del DEL TCT TCT - TCGA-5P-A9JU-01A-11D-A42J-10 TCGA-5P-A9JU-10A-01D-A42M-10 g.chr7:5792508_5792510delTCT c.168_170delAGA c.(166-171)gaagag>gag p.56_57EE>E KIRC 7 5752486 5752486 + Silent SNP G G T TCGA-B8-5158-01A-01D-1421-08 TCGA-B8-5158-10A-01D-1421-08 g.chr7:5752486G>T c.1671C>A c.(1669-1671)ctC>ctA p.L557L KIRC 7 5781389 5781389 + Intron SNP C C T TCGA-BP-4781-01A-01D-1373-10 TCGA-BP-4781-11A-01D-1373-10 g.chr7:5781389C>T KIRP 7 5781025 5781025 + Missense_Mutation SNP A A G TCGA-BQ-5876-01A-11D-1589-08 TCGA-BQ-5876-11A-01D-1589-08 g.chr7:5781025A>G c.452T>C c.(451-453)cTg>cCg p.L151P KIRP 7 5781127 5781127 + Nonsense_Mutation SNP G G C TCGA-P4-A5EB-01A-11D-A28G-10 TCGA-P4-A5EB-11A-11D-A28G-10 g.chr7:5781127G>C c.350C>G c.(349-351)tCa>tGa p.S117* KIRP 7 5792508 5792510 + In_Frame_Del DEL TCT TCT - TCGA-5P-A9JU-01A-11D-A42J-10 TCGA-5P-A9JU-10A-01D-A42M-10 g.chr7:5792508_5792510delTCT c.168_170delAGA c.(166-171)gaagag>gag p.56_57EE>E LGG 7 5662580 5662580 + Missense_Mutation SNP G G A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 g.chr7:5662580G>A c.2512C>T c.(2512-2514)Cgg>Tgg p.R838W LGG 7 5692115 5692115 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:5692115G>A c.1917C>T c.(1915-1917)ctC>ctT p.L639L LGG 7 5781284 5781284 + Intron SNP C C T TCGA-E1-A7YH-01A-11D-A34A-08 TCGA-E1-A7YH-10A-01D-A34A-08 g.chr7:5781284C>T LGG 7 5781361 5781361 + Intron SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:5781361G>T LIHC 7 5662625 5662625 + Missense_Mutation SNP T T C TCGA-DD-A11C-01A-11D-A12Z-10 TCGA-DD-A11C-11A-11D-A12Z-10 g.chr7:5662625T>C c.2467A>G c.(2467-2469)Atg>Gtg p.M823V LIHC 7 5681008 5681008 + Splice_Site SNP C C A TCGA-DD-A11B-01A-11D-A12Z-10 TCGA-DD-A11B-11A-11D-A12Z-10 g.chr7:5681008C>A c.e15-1 LIHC 7 5754691 5754691 + Missense_Mutation SNP G G C TCGA-RC-A6M3-01A-11D-A32G-10 TCGA-RC-A6M3-10A-01D-A32G-10 g.chr7:5754691G>C c.1655C>G c.(1654-1656)tCt>tGt p.S552C LIHC 7 5781438 5781438 + Intron SNP T T C TCGA-DD-A39Z-01A-11D-A20W-10 TCGA-DD-A39Z-11A-21D-A20W-10 g.chr7:5781438T>C LUAD 7 5662510 5662510 + Missense_Mutation SNP T T C TCGA-69-8255-01A-11D-2284-08 TCGA-69-8255-10A-01D-2284-08 g.chr7:5662510T>C c.2582A>G c.(2581-2583)cAg>cGg p.Q861R LUAD 7 5662579 5662579 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr7:5662579C>G c.2513G>C c.(2512-2514)cGg>cCg p.R838P LUAD 7 5662683 5662683 + Silent SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr7:5662683C>G c.2409G>C c.(2407-2409)gcG>gcC p.A803A LUAD 7 5662684 5662684 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr7:5662684G>C c.2408C>G c.(2407-2409)gCg>gGg p.A803G LUAD 7 5662711 5662711 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 g.chr7:5662711T>A c.2381A>T c.(2380-2382)cAg>cTg p.Q794L LUAD 7 5680851 5680851 + Missense_Mutation SNP T T A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr7:5680851T>A c.2145A>T c.(2143-2145)caA>caT p.Q715H LUAD 7 5680882 5680882 + Missense_Mutation SNP A A C TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr7:5680882A>C c.2114T>G c.(2113-2115)gTt>gGt p.V705G LUAD 7 5752387 5752387 + Silent SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr7:5752387G>A c.1770C>T c.(1768-1770)gcC>gcT p.A590A LUAD 7 5754731 5754731 + Missense_Mutation SNP C C G TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr7:5754731C>G c.1615G>C c.(1615-1617)Gag>Cag p.E539Q LUAD 7 5760666 5760666 + Missense_Mutation SNP C C T TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 g.chr7:5760666C>T c.1471G>A c.(1471-1473)Gag>Aag p.E491K LUAD 7 5760761 5760761 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chr7:5760761T>A c.1376A>T c.(1375-1377)aAg>aTg p.K459M LUAD 7 5769176 5769176 + Missense_Mutation SNP G G A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr7:5769176G>A c.1105C>T c.(1105-1107)Cgc>Tgc p.R369C LUAD 7 5792597 5792597 + Silent SNP G G A TCGA-55-8620-01A-11D-2393-08 TCGA-55-8620-10A-01D-2393-08 g.chr7:5792597G>A c.81C>T c.(79-81)ctC>ctT p.L27L LUSC 7 5754762 5754762 + Silent SNP C C A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr7:5754762C>A c.1584G>T c.(1582-1584)acG>acT p.T528T LUSC 7 5769095 5769095 + Nonsense_Mutation SNP C C A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr7:5769095C>A c.1186G>T c.(1186-1188)Gag>Tag p.E396* LUSC 7 5780740 5780740 + Missense_Mutation SNP T T A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 g.chr7:5780740T>A c.737A>T c.(736-738)cAg>cTg p.Q246L OV 7 5662568 5662568 + Missense_Mutation SNP C C T TCGA-23-2078-01A-01W-0722-08 TCGA-23-2078-10A-01W-0722-08 g.chr7:5662568C>T c.2524G>A c.(2524-2526)Gac>Aac p.D842N OV 7 5760731 5760731 + Missense_Mutation SNP C C T TCGA-30-1853-01A-02W-0699-08 TCGA-30-1853-10A-01W-0699-08 g.chr7:5760731C>T c.1406G>A c.(1405-1407)cGt>cAt p.R469H OV 7 5780945 5780945 + Missense_Mutation SNP A A C TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 g.chr7:5780945A>C c.532T>G c.(532-534)Ttc>Gtc p.F178V PAAD 7 5662580 5662580 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 g.chr7:5662580G>A c.2512C>T c.(2512-2514)Cgg>Tgg p.R838W PAAD 7 5754711 5754711 + Silent SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:5754711G>T c.1635C>A c.(1633-1635)gcC>gcA p.A545A PAAD 7 5754712 5754712 + Missense_Mutation SNP G G A TCGA-3A-A9IS-01A-21D-A397-08 TCGA-3A-A9IS-10A-01D-A39A-08 g.chr7:5754712G>A c.1634C>T c.(1633-1635)gCc>gTc p.A545V PRAD 7 5662502 5662502 + Missense_Mutation SNP G G A TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr7:5662502G>A c.2590C>T c.(2590-2592)Cat>Tat p.H864Y PRAD 7 5662580 5662580 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr7:5662580G>A c.2512C>T c.(2512-2514)Cgg>Tgg p.R838W PRAD 7 5780784 5780784 + Silent SNP A A C TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 g.chr7:5780784A>C c.693T>G c.(691-693)tcT>tcG p.S231S PRAD 7 5800647 5800647 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr7:5800647G>A c.54C>T c.(52-54)tgC>tgT p.C18C READ 7 5778927 5778927 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:5778927C>A c.930G>T c.(928-930)aaG>aaT p.K310N SARC 7 5780626 5780626 + Missense_Mutation SNP A A G TCGA-3R-A8YX-01A-11D-A37C-09 TCGA-3R-A8YX-10A-01D-A37F-09 g.chr7:5780626A>G c.851T>C c.(850-852)gTt>gCt p.V284A SKCM 7 5662592 5662592 + Silent SNP G G A TCGA-GN-A262-06A-11D-A196-08 TCGA-GN-A262-10A-01D-A198-08 g.chr7:5662592G>A c.2500C>T c.(2500-2502)Ctg>Ttg p.L834L SKCM 7 5662644 5662644 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:5662644G>A c.2448C>T c.(2446-2448)ttC>ttT p.F816F SKCM 7 5662660 5662660 + Missense_Mutation SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr7:5662660G>A c.2432C>T c.(2431-2433)cCc>cTc p.P811L SKCM 7 5662690 5662690 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr7:5662690G>A c.2402C>T c.(2401-2403)gCc>gTc p.A801V SKCM 7 5662697 5662697 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr7:5662697G>A c.2395C>T c.(2395-2397)Ccc>Tcc p.P799S SKCM 7 5680976 5680976 + Nonsense_Mutation SNP T T A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr7:5680976T>A c.2020A>T c.(2020-2022)Aaa>Taa p.K674* SKCM 7 5754796 5754796 + Missense_Mutation SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr7:5754796C>T c.1550G>A c.(1549-1551)tGc>tAc p.C517Y SKCM 7 5764962 5764962 + Missense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr7:5764962A>T c.1326T>A c.(1324-1326)ttT>ttA p.F442L SKCM 7 5769131 5769131 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr7:5769131C>T c.1150G>A c.(1150-1152)Gtg>Atg p.V384M SKCM 7 5780684 5780684 + Missense_Mutation SNP C C T TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr7:5780684C>T c.793G>A c.(793-795)Gag>Aag p.E265K SKCM 7 5780816 5780816 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 g.chr7:5780816C>T c.661G>A c.(661-663)Gaa>Aaa p.E221K SKCM 7 5800642 5800642 + Missense_Mutation SNP C C T TCGA-FR-A69P-06A-21D-A30X-08 TCGA-FR-A69P-10A-01D-A30X-08 g.chr7:5800642C>T c.59G>A c.(58-60)cGg>cAg p.R20Q

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 5680928 5680928 single base substitution G T 3_prime_UTR_variant BLCA-CN 7 5680928 5680928 single base substitution G T downstream_gene_variant BLCA-CN 7 5680928 5680928 single base substitution G T exon_variant BLCA-CN 7 5680928 5680928 single base substitution G T missense_variant R690S 2068C>A BLCA-CN 7 5680928 5680928 single base substitution G T missense_variant R747S 2239C>A BLCA-US 7 5662766 5662766 single base substitution C G 3_prime_UTR_variant BLCA-US 7 5662766 5662766 single base substitution C G exon_variant BLCA-US 7 5662766 5662766 single base substitution C G missense_variant E776Q 2326G>C BLCA-US 7 5662766 5662766 single base substitution C G missense_variant E833Q 2497G>C BLCA-US 7 5663694 5663694 single base substitution C A 3_prime_UTR_variant BLCA-US 7 5663694 5663694 single base substitution C A exon_variant BLCA-US 7 5663694 5663694 single base substitution C A missense_variant K758N 2274G>T BLCA-US 7 5663694 5663694 single base substitution C A missense_variant K815N 2445G>T BLCA-US 7 5663714 5663714 single base substitution C T 3_prime_UTR_variant BLCA-US 7 5663714 5663714 single base substitution C T exon_variant BLCA-US 7 5663714 5663714 single base substitution C T missense_variant E752K 2254G>A BLCA-US 7 5663714 5663714 single base substitution C T missense_variant E809K 2425G>A BLCA-US 7 5752476 5752476 single base substitution C G 3_prime_UTR_variant BLCA-US 7 5752476 5752476 single base substitution C G exon_variant BLCA-US 7 5752476 5752476 single base substitution C G missense_variant E561Q 1681G>C BLCA-US 7 5752476 5752476 single base substitution C G missense_variant E618Q 1852G>C BLCA-US 7 5760771 5760771 single base substitution G A 3_prime_UTR_variant BLCA-US 7 5760771 5760771 single base substitution G A missense_variant L456F 1366C>T BLCA-US 7 5760771 5760771 single base substitution G A missense_variant L513F 1537C>T BLCA-US 7 5780687 5780687 single base substitution G C downstream_gene_variant BLCA-US 7 5780687 5780687 single base substitution G C exon_variant BLCA-US 7 5780687 5780687 single base substitution G C missense_variant Q264E 790C>G BLCA-US 7 5780687 5780687 single base substitution G C missense_variant Q321E 961C>G BLCA-US 7 5780687 5780687 single base substitution G C upstream_gene_variant BLCA-US 7 5781044 5781044 single base substitution C T downstream_gene_variant BLCA-US 7 5781044 5781044 single base substitution C T exon_variant BLCA-US 7 5781044 5781044 single base substitution C T missense_variant E145K 433G>A BLCA-US 7 5781044 5781044 single base substitution C T missense_variant E202K 604G>A BLCA-US 7 5781044 5781044 single base substitution C T upstream_gene_variant BOCA-FR 7 5680954 5680954 single base substitution C A 3_prime_UTR_variant BOCA-FR 7 5680954 5680954 single base substitution C A downstream_gene_variant BOCA-FR 7 5680954 5680954 single base substitution C A exon_variant BOCA-FR 7 5680954 5680954 single base substitution C A missense_variant G681V 2042G>T BOCA-FR 7 5680954 5680954 single base substitution C A missense_variant G738V 2213G>T BOCA-FR 7 5748795 5748795 single base substitution T C intron_variant BRCA-EU 7 5656284 5656284 deletion of <=200bp G - downstream_gene_variant BRCA-EU 7 5656952 5656952 single base substitution C G downstream_gene_variant BRCA-EU 7 5656991 5656991 single base substitution T G downstream_gene_variant BRCA-EU 7 5657455 5657455 single base substitution C A downstream_gene_variant BRCA-EU 7 5658659 5658659 single base substitution C A downstream_gene_variant BRCA-EU 7 5658737 5658785 multiple base substitution (>=2bp and <=200bp) CCCATCTCTACTAAAGCTACAAAAAAAATTAGCGGGGTGTGGTGGCAGA CCTGTCTCTACTAAAGATACAAAAAATTAGCCAGGCGTGGTGGTACA downstream_gene_variant BRCA-EU 7 5658766 5658766 single base substitution T A downstream_gene_variant BRCA-EU 7 5659010 5659010 single base substitution G C downstream_gene_variant BRCA-EU 7 5659327 5659327 single base substitution C T downstream_gene_variant BRCA-EU 7 5659441 5659441 single base substitution C A downstream_gene_variant BRCA-EU 7 5659656 5659656 single base substitution G T downstream_gene_variant BRCA-EU 7 5662083 5662083 single base substitution C G 3_prime_UTR_variant BRCA-EU 7 5662083 5662083 single base substitution C G downstream_gene_variant BRCA-EU 7 5662568 5662568 single base substitution C G 3_prime_UTR_variant BRCA-EU 7 5662568 5662568 single base substitution C G exon_variant BRCA-EU 7 5662568 5662568 single base substitution C G missense_variant D842H 2524G>C BRCA-EU 7 5662568 5662568 single base substitution C G missense_variant D899H 2695G>C BRCA-EU 7 5662601 5662601 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 5662601 5662601 single base substitution C T exon_variant BRCA-EU 7 5662601 5662601 single base substitution C T missense_variant V831M 2491G>A BRCA-EU 7 5662601 5662601 single base substitution C T missense_variant V888M 2662G>A BRCA-EU 7 5662609 5662609 single base substitution G C 3_prime_UTR_variant BRCA-EU 7 5662609 5662609 single base substitution G C exon_variant BRCA-EU 7 5662609 5662609 single base substitution G C missense_variant A828G 2483C>G BRCA-EU 7 5662609 5662609 single base substitution G C missense_variant A885G 2654C>G BRCA-EU 7 5662670 5662670 single base substitution G C 3_prime_UTR_variant BRCA-EU 7 5662670 5662670 single base substitution G C exon_variant BRCA-EU 7 5662670 5662670 single base substitution G C missense_variant P808A 2422C>G BRCA-EU 7 5662670 5662670 single base substitution G C missense_variant P865A 2593C>G BRCA-EU 7 5663928 5663928 single base substitution C G intron_variant BRCA-EU 7 5665806 5665806 single base substitution C G intron_variant BRCA-EU 7 5665983 5665983 single base substitution A C intron_variant BRCA-EU 7 5666601 5666601 single base substitution C G intron_variant BRCA-EU 7 5667031 5667031 single base substitution G A intron_variant BRCA-EU 7 5670016 5670016 deletion of <=200bp T - intron_variant BRCA-EU 7 5671301 5671301 single base substitution A T intron_variant BRCA-EU 7 5671512 5671512 single base substitution C A intron_variant BRCA-EU 7 5673451 5673451 single base substitution A C intron_variant BRCA-EU 7 5673795 5673795 single base substitution C A intron_variant BRCA-EU 7 5674870 5674870 single base substitution G A intron_variant BRCA-EU 7 5675621 5675621 single base substitution G C intron_variant BRCA-EU 7 5676227 5676227 insertion of <=200bp - TA downstream_gene_variant BRCA-EU 7 5676227 5676227 insertion of <=200bp - TA intron_variant BRCA-EU 7 5677321 5677321 single base substitution C A downstream_gene_variant BRCA-EU 7 5677321 5677321 single base substitution C A intron_variant BRCA-EU 7 5679885 5679885 single base substitution G A downstream_gene_variant BRCA-EU 7 5679885 5679885 single base substitution G A intron_variant BRCA-EU 7 5681509 5681509 single base substitution C G intron_variant BRCA-EU 7 5681917 5681917 single base substitution C G intron_variant BRCA-EU 7 5682712 5682712 deletion of <=200bp A - intron_variant BRCA-EU 7 5683732 5683732 deletion of <=200bp T - intron_variant BRCA-EU 7 5684016 5684016 single base substitution A C intron_variant BRCA-EU 7 5685412 5685412 single base substitution G C intron_variant BRCA-EU 7 5685762 5685762 single base substitution G A intron_variant BRCA-EU 7 5687260 5687260 single base substitution T C intron_variant BRCA-EU 7 5688831 5688831 single base substitution C T intron_variant BRCA-EU 7 5688852 5688852 single base substitution A G intron_variant BRCA-EU 7 5690300 5690300 single base substitution G A intron_variant BRCA-EU 7 5690300 5690300 single base substitution G A upstream_gene_variant BRCA-EU 7 5690768 5690768 single base substitution G A intron_variant BRCA-EU 7 5690768 5690768 single base substitution G A upstream_gene_variant BRCA-EU 7 5692632 5692632 single base substitution G C intron_variant BRCA-EU 7 5692632 5692632 single base substitution G C upstream_gene_variant BRCA-EU 7 5693323 5693323 single base substitution C T intron_variant BRCA-EU 7 5693323 5693323 single base substitution C T upstream_gene_variant BRCA-EU 7 5695105 5695105 single base substitution T G intron_variant BRCA-EU 7 5697473 5697473 single base substitution C T intron_variant BRCA-EU 7 5697711 5697711 single base substitution C T intron_variant BRCA-EU 7 5697901 5697901 single base substitution C G intron_variant BRCA-EU 7 5699465 5699465 single base substitution G T intron_variant BRCA-EU 7 5700203 5700203 single base substitution G A intron_variant BRCA-EU 7 5702794 5702794 single base substitution G A intron_variant BRCA-EU 7 5703563 5703563 deletion of <=200bp A - intron_variant BRCA-EU 7 5704662 5704662 single base substitution C T intron_variant BRCA-EU 7 5704670 5704670 single base substitution C T intron_variant BRCA-EU 7 5706470 5706470 single base substitution G C intron_variant BRCA-EU 7 5709515 5709515 deletion of <=200bp A - intron_variant BRCA-EU 7 5710672 5710672 single base substitution C A intron_variant BRCA-EU 7 5711326 5711326 single base substitution T C intron_variant BRCA-EU 7 5712059 5712059 single base substitution G A intron_variant BRCA-EU 7 5712575 5712575 deletion of <=200bp A - intron_variant BRCA-EU 7 5717343 5717343 single base substitution C G intron_variant BRCA-EU 7 5720178 5720178 single base substitution G A intron_variant BRCA-EU 7 5720371 5720371 single base substitution A G intron_variant BRCA-EU 7 5720556 5720556 single base substitution G A intron_variant BRCA-EU 7 5721067 5721067 single base substitution A G intron_variant BRCA-EU 7 5721759 5721759 single base substitution G C intron_variant BRCA-EU 7 5723836 5723836 single base substitution C T intron_variant BRCA-EU 7 5725137 5725137 single base substitution C T intron_variant BRCA-EU 7 5725141 5725141 single base substitution G A intron_variant BRCA-EU 7 5732016 5732016 single base substitution G A intron_variant BRCA-EU 7 5732780 5732780 single base substitution C T intron_variant BRCA-EU 7 5733890 5733890 single base substitution C G intron_variant BRCA-EU 7 5735921 5735921 single base substitution C G intron_variant BRCA-EU 7 5736893 5736893 single base substitution C A intron_variant BRCA-EU 7 5737775 5737775 single base substitution A G intron_variant BRCA-EU 7 5737934 5737934 single base substitution C T intron_variant BRCA-EU 7 5741670 5741670 single base substitution G T intron_variant BRCA-EU 7 5741888 5741888 single base substitution G A intron_variant BRCA-EU 7 5743707 5743707 single base substitution G A intron_variant BRCA-EU 7 5744775 5744775 single base substitution A T intron_variant BRCA-EU 7 5746830 5746830 single base substitution C T intron_variant BRCA-EU 7 5747439 5747439 single base substitution C A intron_variant BRCA-EU 7 5748978 5748978 single base substitution G A intron_variant BRCA-EU 7 5750681 5750698 deletion of <=200bp CAAAGATATTGCAGTGTT - intron_variant BRCA-EU 7 5751249 5751249 single base substitution C T intron_variant BRCA-EU 7 5751944 5751944 single base substitution C T intron_variant BRCA-EU 7 5754122 5754122 single base substitution C A intron_variant BRCA-EU 7 5754122 5754122 single base substitution C A upstream_gene_variant BRCA-EU 7 5754611 5754611 single base substitution T A intron_variant BRCA-EU 7 5754611 5754611 single base substitution T A upstream_gene_variant BRCA-EU 7 5755043 5755043 insertion of <=200bp - T intron_variant BRCA-EU 7 5755043 5755043 insertion of <=200bp - T upstream_gene_variant BRCA-EU 7 5756383 5756383 single base substitution C G 3_prime_UTR_variant BRCA-EU 7 5756383 5756383 single base substitution C G missense_variant L496F 1488G>C BRCA-EU 7 5756383 5756383 single base substitution C G missense_variant L553F 1659G>C BRCA-EU 7 5756383 5756383 single base substitution C G upstream_gene_variant BRCA-EU 7 5758124 5758124 deletion of <=200bp A - intron_variant BRCA-EU 7 5758124 5758124 insertion of <=200bp - A intron_variant BRCA-EU 7 5758849 5758849 deletion of <=200bp A - intron_variant BRCA-EU 7 5761278 5761278 single base substitution C A intron_variant BRCA-EU 7 5762570 5762570 single base substitution G A intron_variant BRCA-EU 7 5762599 5762599 deletion of <=200bp A - intron_variant BRCA-EU 7 5763265 5763265 single base substitution A G intron_variant BRCA-EU 7 5763666 5763666 single base substitution A T intron_variant BRCA-EU 7 5764456 5764456 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 5764456 5764456 deletion of <=200bp T - intron_variant BRCA-EU 7 5764661 5764661 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 5764661 5764661 deletion of <=200bp T - intron_variant BRCA-EU 7 5767938 5767938 single base substitution C T downstream_gene_variant BRCA-EU 7 5767938 5767938 single base substitution C T intron_variant BRCA-EU 7 5768349 5768349 single base substitution G A downstream_gene_variant BRCA-EU 7 5768349 5768349 single base substitution G A intron_variant BRCA-EU 7 5768915 5768915 single base substitution G A downstream_gene_variant BRCA-EU 7 5768915 5768915 single base substitution G A intron_variant BRCA-EU 7 5769385 5769385 single base substitution G A intron_variant BRCA-EU 7 5769581 5769581 single base substitution A G intron_variant BRCA-EU 7 5769674 5769674 single base substitution T A intron_variant BRCA-EU 7 5771061 5771061 single base substitution A G intron_variant BRCA-EU 7 5773323 5773323 single base substitution G C intron_variant BRCA-EU 7 5774942 5774942 single base substitution C G intron_variant BRCA-EU 7 5776769 5776771 deletion of <=200bp AAG - downstream_gene_variant BRCA-EU 7 5776769 5776771 deletion of <=200bp AAG - intron_variant BRCA-EU 7 5776822 5776822 single base substitution G A downstream_gene_variant BRCA-EU 7 5776822 5776822 single base substitution G A intron_variant BRCA-EU 7 5777049 5777049 single base substitution A G downstream_gene_variant BRCA-EU 7 5777049 5777049 single base substitution A G intron_variant BRCA-EU 7 5777235 5777235 single base substitution A G downstream_gene_variant BRCA-EU 7 5777235 5777235 single base substitution A G intron_variant BRCA-EU 7 5778565 5778565 single base substitution G A downstream_gene_variant BRCA-EU 7 5778565 5778565 single base substitution G A intron_variant BRCA-EU 7 5779262 5779262 single base substitution C A downstream_gene_variant BRCA-EU 7 5779262 5779262 single base substitution C A intron_variant BRCA-EU 7 5779262 5779262 single base substitution C A upstream_gene_variant BRCA-EU 7 5780303 5780303 single base substitution C A downstream_gene_variant BRCA-EU 7 5780303 5780303 single base substitution C A intron_variant BRCA-EU 7 5780303 5780303 single base substitution C A upstream_gene_variant BRCA-EU 7 5783463 5783463 single base substitution T C intron_variant BRCA-EU 7 5783463 5783463 single base substitution T C upstream_gene_variant BRCA-EU 7 5783859 5783859 deletion of <=200bp A - intron_variant BRCA-EU 7 5783859 5783859 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 5784070 5784070 single base substitution G C intron_variant BRCA-EU 7 5784070 5784070 single base substitution G C upstream_gene_variant BRCA-EU 7 5785622 5785622 single base substitution C A intron_variant BRCA-EU 7 5785968 5785968 deletion of <=200bp T - intron_variant BRCA-EU 7 5786521 5786521 single base substitution C T intron_variant BRCA-EU 7 5786710 5786710 single base substitution C G intron_variant BRCA-EU 7 5788662 5788662 single base substitution T C intron_variant BRCA-EU 7 5789892 5789892 single base substitution C A intron_variant BRCA-EU 7 5791746 5791746 single base substitution G A intron_variant BRCA-EU 7 5791815 5791815 deletion of <=200bp A - intron_variant BRCA-EU 7 5792356 5792356 single base substitution A G intron_variant BRCA-EU 7 5793007 5793007 deletion of <=200bp A - intron_variant BRCA-EU 7 5794845 5794845 single base substitution A G intron_variant BRCA-EU 7 5795336 5795336 single base substitution G C intron_variant BRCA-EU 7 5796647 5796647 single base substitution A G downstream_gene_variant BRCA-EU 7 5796647 5796647 single base substitution A G intron_variant BRCA-EU 7 5797917 5797917 single base substitution C G downstream_gene_variant BRCA-EU 7 5797917 5797917 single base substitution C G intron_variant BRCA-EU 7 5799376 5799376 single base substitution C T downstream_gene_variant BRCA-EU 7 5799376 5799376 single base substitution C T intron_variant BRCA-EU 7 5799885 5799885 single base substitution C T downstream_gene_variant BRCA-EU 7 5799885 5799885 single base substitution C T intron_variant BRCA-EU 7 5800585 5800585 single base substitution A T downstream_gene_variant BRCA-EU 7 5800585 5800585 single base substitution A T intron_variant BRCA-EU 7 5801733 5801733 single base substitution G A intron_variant BRCA-EU 7 5801733 5801733 single base substitution G A upstream_gene_variant BRCA-EU 7 5802549 5802549 single base substitution A G intron_variant BRCA-EU 7 5802549 5802549 single base substitution A G upstream_gene_variant BRCA-EU 7 5802782 5802782 single base substitution G C intron_variant BRCA-EU 7 5802782 5802782 single base substitution G C upstream_gene_variant BRCA-EU 7 5802833 5802833 single base substitution G A intron_variant BRCA-EU 7 5802833 5802833 single base substitution G A upstream_gene_variant BRCA-EU 7 5803353 5803353 single base substitution A T intron_variant BRCA-EU 7 5803353 5803353 single base substitution A T upstream_gene_variant BRCA-EU 7 5803354 5803354 single base substitution C A intron_variant BRCA-EU 7 5803354 5803354 single base substitution C A upstream_gene_variant BRCA-EU 7 5803609 5803609 single base substitution C G intron_variant BRCA-EU 7 5803609 5803609 single base substitution C G upstream_gene_variant BRCA-EU 7 5804828 5804828 single base substitution C A intron_variant BRCA-EU 7 5804828 5804828 single base substitution C A upstream_gene_variant BRCA-EU 7 5805009 5805009 single base substitution T C intron_variant BRCA-EU 7 5805009 5805009 single base substitution T C upstream_gene_variant BRCA-EU 7 5805868 5805868 single base substitution C T intron_variant BRCA-EU 7 5805927 5805927 single base substitution C A intron_variant BRCA-EU 7 5806159 5806159 single base substitution C G intron_variant BRCA-EU 7 5806800 5806800 single base substitution C A intron_variant BRCA-EU 7 5808086 5808086 single base substitution C A intron_variant BRCA-EU 7 5809974 5809974 single base substitution C T intron_variant BRCA-EU 7 5810041 5810041 single base substitution G A intron_variant BRCA-EU 7 5811414 5811414 single base substitution G A intron_variant BRCA-EU 7 5812106 5812106 single base substitution C T intron_variant BRCA-EU 7 5812145 5812145 single base substitution C T intron_variant BRCA-EU 7 5812458 5812458 single base substitution G C intron_variant BRCA-EU 7 5813053 5813053 single base substitution T A intron_variant BRCA-EU 7 5813637 5813637 single base substitution G T intron_variant BRCA-EU 7 5813836 5813836 single base substitution C A intron_variant BRCA-EU 7 5814609 5814609 single base substitution C G intron_variant BRCA-EU 7 5815206 5815206 single base substitution A C intron_variant BRCA-EU 7 5815978 5815978 single base substitution G T intron_variant BRCA-EU 7 5816444 5816444 single base substitution A C intron_variant BRCA-EU 7 5820561 5820561 single base substitution A G intron_variant BRCA-EU 7 5820561 5820561 single base substitution A G upstream_gene_variant BRCA-EU 7 5820662 5820662 single base substitution C T intron_variant BRCA-EU 7 5820662 5820662 single base substitution C T upstream_gene_variant BRCA-EU 7 5821014 5821014 single base substitution C G intron_variant BRCA-EU 7 5821014 5821014 single base substitution C G upstream_gene_variant BRCA-EU 7 5821305 5821305 single base substitution C T 5_prime_UTR_variant BRCA-EU 7 5821305 5821305 single base substitution C T upstream_gene_variant BRCA-EU 7 5822838 5822838 single base substitution G T upstream_gene_variant BRCA-EU 7 5824893 5824893 single base substitution C A upstream_gene_variant BRCA-EU 7 5826033 5826033 single base substitution A G upstream_gene_variant BRCA-FR 7 5657455 5657455 single base substitution C A downstream_gene_variant BRCA-FR 7 5659470 5659470 single base substitution G A downstream_gene_variant BRCA-FR 7 5693751 5693751 single base substitution C G intron_variant BRCA-FR 7 5693751 5693751 single base substitution C G upstream_gene_variant BRCA-FR 7 5704670 5704670 single base substitution C T intron_variant BRCA-FR 7 5723553 5723553 single base substitution G A intron_variant BRCA-FR 7 5737934 5737934 single base substitution C T intron_variant BRCA-FR 7 5745788 5745788 single base substitution T C intron_variant BRCA-FR 7 5749809 5749809 single base substitution G A intron_variant BRCA-FR 7 5767023 5767023 single base substitution T C downstream_gene_variant BRCA-FR 7 5767023 5767023 single base substitution T C intron_variant BRCA-FR 7 5768337 5768337 single base substitution C T downstream_gene_variant BRCA-FR 7 5768337 5768337 single base substitution C T intron_variant BRCA-FR 7 5771061 5771061 single base substitution A G intron_variant BRCA-FR 7 5771215 5771215 single base substitution A G intron_variant BRCA-FR 7 5772150 5772150 single base substitution C A intron_variant BRCA-FR 7 5773289 5773289 single base substitution T A intron_variant BRCA-FR 7 5774406 5774406 single base substitution A G intron_variant BRCA-FR 7 5774771 5774771 single base substitution C T intron_variant BRCA-FR 7 5779262 5779262 single base substitution C A downstream_gene_variant BRCA-FR 7 5779262 5779262 single base substitution C A intron_variant BRCA-FR 7 5779262 5779262 single base substitution C A upstream_gene_variant BRCA-FR 7 5784239 5784239 single base substitution C T intron_variant BRCA-FR 7 5802782 5802782 single base substitution G C intron_variant BRCA-FR 7 5802782 5802782 single base substitution G C upstream_gene_variant BRCA-FR 7 5802833 5802833 single base substitution G A intron_variant BRCA-FR 7 5802833 5802833 single base substitution G A upstream_gene_variant BRCA-FR 7 5805571 5805571 single base substitution G A intron_variant BRCA-FR 7 5805571 5805571 single base substitution G A upstream_gene_variant BRCA-FR 7 5812106 5812106 single base substitution C T intron_variant BRCA-FR 7 5813835 5813835 single base substitution T C intron_variant BRCA-FR 7 5817875 5817875 single base substitution C A intron_variant BRCA-UK 7 5659010 5659010 single base substitution G C downstream_gene_variant BRCA-UK 7 5659674 5659674 single base substitution G C downstream_gene_variant BRCA-UK 7 5688852 5688852 single base substitution A G intron_variant BRCA-UK 7 5700203 5700203 single base substitution G A intron_variant BRCA-UK 7 5742941 5742941 single base substitution G A intron_variant BRCA-UK 7 5761278 5761278 single base substitution C A intron_variant BRCA-UK 7 5769385 5769385 single base substitution G A intron_variant BRCA-UK 7 5774942 5774942 single base substitution C G intron_variant BRCA-UK 7 5785622 5785622 single base substitution C A intron_variant BRCA-UK 7 5800842 5800842 single base substitution A G intron_variant BRCA-UK 7 5800842 5800842 single base substitution A G upstream_gene_variant BRCA-UK 7 5800951 5800951 single base substitution T G intron_variant BRCA-UK 7 5800951 5800951 single base substitution T G upstream_gene_variant BRCA-UK 7 5808086 5808086 single base substitution C A intron_variant BTCA-JP 7 5680915 5680915 single base substitution C T 3_prime_UTR_variant BTCA-JP 7 5680915 5680915 single base substitution C T downstream_gene_variant BTCA-JP 7 5680915 5680915 single base substitution C T exon_variant BTCA-JP 7 5680915 5680915 single base substitution C T missense_variant R694H 2081G>A BTCA-JP 7 5680915 5680915 single base substitution C T missense_variant R751H 2252G>A BTCA-JP 7 5756207 5756207 single base substitution T C intron_variant BTCA-JP 7 5756207 5756207 single base substitution T C upstream_gene_variant BTCA-JP 7 5765128 5765128 single base substitution C A downstream_gene_variant BTCA-JP 7 5765128 5765128 single base substitution C A intron_variant BTCA-JP 7 5781195 5781195 single base substitution T C downstream_gene_variant BTCA-JP 7 5781195 5781195 single base substitution T C exon_variant BTCA-JP 7 5781195 5781195 single base substitution T C synonymous_variant Q151Q 453A>G BTCA-JP 7 5781195 5781195 single base substitution T C synonymous_variant Q94Q 282A>G BTCA-JP 7 5781195 5781195 single base substitution T C upstream_gene_variant BTCA-JP 7 5781452 5781452 insertion of <=200bp - A intron_variant BTCA-JP 7 5781452 5781452 insertion of <=200bp - A splice_region_variant BTCA-JP 7 5781452 5781452 insertion of <=200bp - A upstream_gene_variant BTCA-JP 7 5792425 5792425 single base substitution T C intron_variant BTCA-JP 7 5800142 5800142 single base substitution T C downstream_gene_variant BTCA-JP 7 5800142 5800142 single base substitution T C intron_variant BTCA-JP 7 5800142 5800142 single base substitution T C splice_region_variant BTCA-JP 7 5800153 5800153 single base substitution G A downstream_gene_variant BTCA-JP 7 5800153 5800153 single base substitution G A intron_variant CESC-US 7 5663694 5663694 single base substitution C T 3_prime_UTR_variant CESC-US 7 5663694 5663694 single base substitution C T exon_variant CESC-US 7 5663694 5663694 single base substitution C T synonymous_variant K758K 2274G>A CESC-US 7 5663694 5663694 single base substitution C T synonymous_variant K815K 2445G>A CESC-US 7 5779184 5779184 single base substitution G C downstream_gene_variant CESC-US 7 5779184 5779184 single base substitution G C exon_variant CESC-US 7 5779184 5779184 single base substitution G C intron_variant CESC-US 7 5779184 5779184 single base substitution G C upstream_gene_variant CESC-US 7 5780712 5780712 single base substitution A G downstream_gene_variant CESC-US 7 5780712 5780712 single base substitution A G exon_variant CESC-US 7 5780712 5780712 single base substitution A G synonymous_variant G255G 765T>C CESC-US 7 5780712 5780712 single base substitution A G synonymous_variant G312G 936T>C CESC-US 7 5780712 5780712 single base substitution A G upstream_gene_variant CESC-US 7 5800731 5800731 single base substitution G C 5_prime_UTR_variant CESC-US 7 5800731 5800731 single base substitution G C exon_variant CLLE-ES 7 5660803 5660803 insertion of <=200bp - ATCTTTT 3_prime_UTR_variant CLLE-ES 7 5660803 5660803 insertion of <=200bp - ATCTTTT downstream_gene_variant CLLE-ES 7 5681093 5681093 single base substitution T A intron_variant CLLE-ES 7 5699104 5699104 single base substitution A G intron_variant CLLE-ES 7 5718816 5718816 single base substitution G A intron_variant CLLE-ES 7 5725064 5725064 single base substitution T C intron_variant CLLE-ES 7 5749868 5749868 single base substitution G A intron_variant COAD-US 7 5756345 5756345 single base substitution A G splice_donor_variant COAD-US 7 5756345 5756345 single base substitution A G upstream_gene_variant COAD-US 7 5765012 5765012 deletion of <=200bp T - 3_prime_UTR_variant COAD-US 7 5765012 5765012 deletion of <=200bp T - downstream_gene_variant COAD-US 7 5765012 5765012 deletion of <=200bp T - frameshift_variant R426 COAD-US 7 5765012 5765012 deletion of <=200bp T - frameshift_variant R483 COAD-US 7 5769140 5769140 single base substitution C T 3_prime_UTR_variant COAD-US 7 5769140 5769140 single base substitution C T downstream_gene_variant COAD-US 7 5769140 5769140 single base substitution C T missense_variant D381N 1141G>A COAD-US 7 5769140 5769140 single base substitution C T missense_variant D438N 1312G>A COAD-US 7 5769212 5769212 single base substitution A C 3_prime_UTR_variant COAD-US 7 5769212 5769212 single base substitution A C exon_variant COAD-US 7 5769212 5769212 single base substitution A C missense_variant F357V 1069T>G COAD-US 7 5769212 5769212 single base substitution A C missense_variant F414V 1240T>G COAD-US 7 5780817 5780817 single base substitution C T downstream_gene_variant COAD-US 7 5780817 5780817 single base substitution C T exon_variant COAD-US 7 5780817 5780817 single base substitution C T synonymous_variant P220P 660G>A COAD-US 7 5780817 5780817 single base substitution C T synonymous_variant P277P 831G>A COAD-US 7 5780817 5780817 single base substitution C T upstream_gene_variant COCA-CN 7 5663764 5663764 single base substitution G A splice_region_variant COCA-CN 7 5690667 5690667 single base substitution G A intron_variant COCA-CN 7 5690667 5690667 single base substitution G A upstream_gene_variant COCA-CN 7 5692194 5692194 single base substitution A G intron_variant COCA-CN 7 5692194 5692194 single base substitution A G upstream_gene_variant COCA-CN 7 5694366 5694366 single base substitution T G intron_variant COCA-CN 7 5694366 5694366 single base substitution T G upstream_gene_variant COCA-CN 7 5700588 5700588 single base substitution T G intron_variant COCA-CN 7 5744070 5744070 single base substitution G A intron_variant COCA-CN 7 5745850 5745850 single base substitution C A intron_variant COCA-CN 7 5752518 5752518 single base substitution G T intron_variant COCA-CN 7 5752560 5752560 single base substitution A G intron_variant COCA-CN 7 5765920 5765920 single base substitution T C downstream_gene_variant COCA-CN 7 5765920 5765920 single base substitution T C intron_variant COCA-CN 7 5770330 5770330 single base substitution T C intron_variant COCA-CN 7 5771948 5771948 single base substitution C T intron_variant COCA-CN 7 5776516 5776516 single base substitution A C downstream_gene_variant COCA-CN 7 5776516 5776516 single base substitution A C intron_variant COCA-CN 7 5780550 5780550 single base substitution G A downstream_gene_variant COCA-CN 7 5780550 5780550 single base substitution G A intron_variant COCA-CN 7 5780550 5780550 single base substitution G A upstream_gene_variant COCA-CN 7 5780628 5780628 single base substitution G A downstream_gene_variant COCA-CN 7 5780628 5780628 single base substitution G A exon_variant COCA-CN 7 5780628 5780628 single base substitution G A synonymous_variant L283L 849C>T COCA-CN 7 5780628 5780628 single base substitution G A synonymous_variant L340L 1020C>T COCA-CN 7 5780628 5780628 single base substitution G A upstream_gene_variant COCA-CN 7 5786835 5786835 single base substitution C T intron_variant COCA-CN 7 5787602 5787602 single base substitution T C intron_variant COCA-CN 7 5790727 5790727 single base substitution C T intron_variant EOPC-DE 7 5669080 5669080 single base substitution G A intron_variant ESAD-UK 7 5656820 5656820 single base substitution G A downstream_gene_variant ESAD-UK 7 5657896 5657896 single base substitution C G downstream_gene_variant ESAD-UK 7 5658911 5658911 single base substitution A T downstream_gene_variant ESAD-UK 7 5661092 5661092 single base substitution T C 3_prime_UTR_variant ESAD-UK 7 5661092 5661092 single base substitution T C downstream_gene_variant ESAD-UK 7 5661140 5661140 single base substitution C T 3_prime_UTR_variant ESAD-UK 7 5661140 5661140 single base substitution C T downstream_gene_variant ESAD-UK 7 5662227 5662227 single base substitution C T 3_prime_UTR_variant ESAD-UK 7 5662227 5662227 single base substitution C T downstream_gene_variant ESAD-UK 7 5663989 5663989 single base substitution G A intron_variant ESAD-UK 7 5664022 5664022 insertion of <=200bp - G intron_variant ESAD-UK 7 5664195 5664195 single base substitution C T intron_variant ESAD-UK 7 5666324 5666324 single base substitution G A intron_variant ESAD-UK 7 5673658 5673658 single base substitution C T intron_variant ESAD-UK 7 5673772 5673772 single base substitution T C intron_variant ESAD-UK 7 5674027 5674027 single base substitution C T intron_variant ESAD-UK 7 5675815 5675815 single base substitution C T intron_variant ESAD-UK 7 5676790 5676790 single base substitution C G downstream_gene_variant ESAD-UK 7 5676790 5676790 single base substitution C G intron_variant ESAD-UK 7 5678174 5678174 single base substitution G T downstream_gene_variant ESAD-UK 7 5678174 5678174 single base substitution G T intron_variant ESAD-UK 7 5678460 5678460 single base substitution C T downstream_gene_variant ESAD-UK 7 5678460 5678460 single base substitution C T intron_variant ESAD-UK 7 5678771 5678771 single base substitution C G downstream_gene_variant ESAD-UK 7 5678771 5678771 single base substitution C G intron_variant ESAD-UK 7 5679139 5679139 single base substitution G A downstream_gene_variant ESAD-UK 7 5679139 5679139 single base substitution G A intron_variant ESAD-UK 7 5679767 5679767 single base substitution G A downstream_gene_variant ESAD-UK 7 5679767 5679767 single base substitution G A intron_variant ESAD-UK 7 5680173 5680173 single base substitution C G downstream_gene_variant ESAD-UK 7 5680173 5680173 single base substitution C G intron_variant ESAD-UK 7 5680454 5680454 single base substitution T C downstream_gene_variant ESAD-UK 7 5680454 5680454 single base substitution T C intron_variant ESAD-UK 7 5683005 5683005 single base substitution T A intron_variant ESAD-UK 7 5683187 5683187 single base substitution T A intron_variant ESAD-UK 7 5687747 5687747 single base substitution T A intron_variant ESAD-UK 7 5687748 5687748 single base substitution T C intron_variant ESAD-UK 7 5687749 5687749 single base substitution T A intron_variant ESAD-UK 7 5688170 5688170 single base substitution C A intron_variant ESAD-UK 7 5688316 5688316 single base substitution G A intron_variant ESAD-UK 7 5691250 5691250 single base substitution G T intron_variant ESAD-UK 7 5691250 5691250 single base substitution G T upstream_gene_variant ESAD-UK 7 5691390 5691390 single base substitution C T intron_variant ESAD-UK 7 5691390 5691390 single base substitution C T upstream_gene_variant ESAD-UK 7 5692988 5692988 single base substitution G A intron_variant ESAD-UK 7 5692988 5692988 single base substitution G A upstream_gene_variant ESAD-UK 7 5699507 5699507 insertion of <=200bp - TTT intron_variant ESAD-UK 7 5701181 5701181 single base substitution C T intron_variant ESAD-UK 7 5708597 5708597 single base substitution C T intron_variant ESAD-UK 7 5709298 5709298 single base substitution C T intron_variant ESAD-UK 7 5710345 5710345 single base substitution C A intron_variant ESAD-UK 7 5710572 5710572 single base substitution T A intron_variant ESAD-UK 7 5710680 5710680 single base substitution G A intron_variant ESAD-UK 7 5715528 5715528 single base substitution C T intron_variant ESAD-UK 7 5715583 5715583 single base substitution G C intron_variant ESAD-UK 7 5716539 5716539 single base substitution A T intron_variant ESAD-UK 7 5720200 5720200 insertion of <=200bp - T intron_variant ESAD-UK 7 5721657 5721657 single base substitution C T intron_variant ESAD-UK 7 5723890 5723890 single base substitution C T intron_variant ESAD-UK 7 5725575 5725575 single base substitution C T intron_variant ESAD-UK 7 5728044 5728044 single base substitution A T intron_variant ESAD-UK 7 5733193 5733193 single base substitution T C intron_variant ESAD-UK 7 5737699 5737699 deletion of <=200bp A - intron_variant ESAD-UK 7 5741715 5741715 single base substitution G A intron_variant ESAD-UK 7 5747149 5747149 single base substitution T G intron_variant ESAD-UK 7 5749618 5749618 single base substitution C T intron_variant ESAD-UK 7 5752372 5752372 single base substitution C T 3_prime_UTR_variant ESAD-UK 7 5752372 5752372 single base substitution C T exon_variant ESAD-UK 7 5752372 5752372 single base substitution C T synonymous_variant A595A 1785G>A ESAD-UK 7 5752372 5752372 single base substitution C T synonymous_variant A652A 1956G>A ESAD-UK 7 5752688 5752688 single base substitution G T intron_variant ESAD-UK 7 5753285 5753285 single base substitution C A intron_variant ESAD-UK 7 5753285 5753285 single base substitution C A upstream_gene_variant ESAD-UK 7 5755043 5755043 insertion of <=200bp - T intron_variant ESAD-UK 7 5755043 5755043 insertion of <=200bp - T upstream_gene_variant ESAD-UK 7 5757508 5757508 single base substitution G A intron_variant ESAD-UK 7 5757508 5757508 single base substitution G A upstream_gene_variant ESAD-UK 7 5757733 5757733 single base substitution C A intron_variant ESAD-UK 7 5757733 5757733 single base substitution C A upstream_gene_variant ESAD-UK 7 5758429 5758429 single base substitution C A intron_variant ESAD-UK 7 5758430 5758430 single base substitution G A intron_variant ESAD-UK 7 5759271 5759271 single base substitution T C intron_variant ESAD-UK 7 5762892 5762892 single base substitution T G intron_variant ESAD-UK 7 5765318 5765318 single base substitution T A downstream_gene_variant ESAD-UK 7 5765318 5765318 single base substitution T A intron_variant ESAD-UK 7 5765337 5765337 single base substitution C T downstream_gene_variant ESAD-UK 7 5765337 5765337 single base substitution C T intron_variant ESAD-UK 7 5766226 5766226 single base substitution C T downstream_gene_variant ESAD-UK 7 5766226 5766226 single base substitution C T intron_variant ESAD-UK 7 5766424 5766424 single base substitution G A downstream_gene_variant ESAD-UK 7 5766424 5766424 single base substitution G A intron_variant ESAD-UK 7 5768144 5768144 single base substitution G A downstream_gene_variant ESAD-UK 7 5768144 5768144 single base substitution G A intron_variant ESAD-UK 7 5771700 5771700 single base substitution C T intron_variant ESAD-UK 7 5772843 5772843 single base substitution A G intron_variant ESAD-UK 7 5780509 5780509 single base substitution G A downstream_gene_variant ESAD-UK 7 5780509 5780509 single base substitution G A intron_variant ESAD-UK 7 5780509 5780509 single base substitution G A upstream_gene_variant ESAD-UK 7 5784640 5784640 single base substitution T G intron_variant ESAD-UK 7 5786371 5786371 single base substitution T G intron_variant ESAD-UK 7 5786884 5786884 single base substitution T C intron_variant ESAD-UK 7 5786911 5786911 single base substitution G A intron_variant ESAD-UK 7 5789820 5789820 single base substitution C T intron_variant ESAD-UK 7 5792196 5792196 single base substitution G A intron_variant ESAD-UK 7 5792738 5792738 single base substitution G T intron_variant ESAD-UK 7 5792844 5792844 single base substitution T G intron_variant ESAD-UK 7 5793177 5793177 single base substitution C T intron_variant ESAD-UK 7 5793438 5793438 single base substitution G A intron_variant ESAD-UK 7 5797975 5797975 single base substitution T C downstream_gene_variant ESAD-UK 7 5797975 5797975 single base substitution T C intron_variant ESAD-UK 7 5799712 5799712 single base substitution C A downstream_gene_variant ESAD-UK 7 5799712 5799712 single base substitution C A intron_variant ESAD-UK 7 5800936 5800936 single base substitution G A intron_variant ESAD-UK 7 5800936 5800936 single base substitution G A upstream_gene_variant ESAD-UK 7 5801557 5801557 single base substitution G A intron_variant ESAD-UK 7 5801557 5801557 single base substitution G A upstream_gene_variant ESAD-UK 7 5802139 5802139 single base substitution T A intron_variant ESAD-UK 7 5802139 5802139 single base substitution T A upstream_gene_variant ESAD-UK 7 5803654 5803654 insertion of <=200bp - G intron_variant ESAD-UK 7 5803654 5803654 insertion of <=200bp - G upstream_gene_variant ESAD-UK 7 5803956 5803956 single base substitution G C intron_variant ESAD-UK 7 5803956 5803956 single base substitution G C upstream_gene_variant ESAD-UK 7 5804307 5804307 single base substitution G T intron_variant ESAD-UK 7 5804307 5804307 single base substitution G T upstream_gene_variant ESAD-UK 7 5805752 5805752 single base substitution G A intron_variant ESAD-UK 7 5805752 5805752 single base substitution G A upstream_gene_variant ESAD-UK 7 5807537 5807537 single base substitution A T intron_variant ESAD-UK 7 5808561 5808561 single base substitution G C intron_variant ESAD-UK 7 5808815 5808815 single base substitution C A intron_variant ESAD-UK 7 5810508 5810508 single base substitution G A intron_variant ESAD-UK 7 5812705 5812705 single base substitution C T intron_variant ESAD-UK 7 5814992 5814992 single base substitution A G intron_variant ESAD-UK 7 5815596 5815596 single base substitution C A intron_variant ESAD-UK 7 5821797 5821797 single base substitution A G upstream_gene_variant ESAD-UK 7 5823147 5823147 single base substitution C T upstream_gene_variant ESAD-UK 7 5823646 5823646 single base substitution A T upstream_gene_variant ESAD-UK 7 5824290 5824290 single base substitution G T upstream_gene_variant ESAD-UK 7 5826236 5826236 single base substitution A C upstream_gene_variant KIRC-US 7 5752486 5752486 single base substitution G T 3_prime_UTR_variant KIRC-US 7 5752486 5752486 single base substitution G T exon_variant KIRC-US 7 5752486 5752486 single base substitution G T synonymous_variant L557L 1671C>A KIRC-US 7 5752486 5752486 single base substitution G T synonymous_variant L614L 1842C>A KIRC-US 7 5781389 5781389 single base substitution C T intron_variant KIRC-US 7 5781389 5781389 single base substitution C T missense_variant D87N 259G>A KIRC-US 7 5781389 5781389 single base substitution C T upstream_gene_variant KIRP-US 7 5781025 5781025 single base substitution A G downstream_gene_variant KIRP-US 7 5781025 5781025 single base substitution A G exon_variant KIRP-US 7 5781025 5781025 single base substitution A G missense_variant L151P 452T>C KIRP-US 7 5781025 5781025 single base substitution A G missense_variant L208P 623T>C KIRP-US 7 5781025 5781025 single base substitution A G upstream_gene_variant KIRP-US 7 5781127 5781127 single base substitution G C downstream_gene_variant KIRP-US 7 5781127 5781127 single base substitution G C exon_variant KIRP-US 7 5781127 5781127 single base substitution G C stop_gained S117* 350C>G KIRP-US 7 5781127 5781127 single base substitution G C stop_gained S174* 521C>G KIRP-US 7 5781127 5781127 single base substitution G C upstream_gene_variant LAML-KR 7 5682296 5682296 single base substitution G A intron_variant LAML-KR 7 5714124 5714124 single base substitution T G intron_variant LAML-KR 7 5767618 5767618 single base substitution T C downstream_gene_variant LAML-KR 7 5767618 5767618 single base substitution T C intron_variant LAML-KR 7 5770330 5770330 single base substitution T C intron_variant LAML-KR 7 5770521 5770521 single base substitution G T intron_variant LAML-KR 7 5770522 5770522 single base substitution T C intron_variant LICA-CN 7 5792518 5792518 single base substitution G A 3_prime_UTR_variant LICA-CN 7 5792518 5792518 single base substitution G A exon_variant LICA-CN 7 5792518 5792518 single base substitution G A missense_variant H54Y 160C>T LICA-FR 7 5668317 5668317 deletion of <=200bp T - intron_variant LICA-FR 7 5668919 5668919 single base substitution G A intron_variant LICA-FR 7 5680927 5680927 single base substitution C T 3_prime_UTR_variant LICA-FR 7 5680927 5680927 single base substitution C T downstream_gene_variant LICA-FR 7 5680927 5680927 single base substitution C T exon_variant LICA-FR 7 5680927 5680927 single base substitution C T missense_variant R690H 2069G>A LICA-FR 7 5680927 5680927 single base substitution C T missense_variant R747H 2240G>A LICA-FR 7 5710764 5710764 single base substitution C A intron_variant LICA-FR 7 5752784 5752784 single base substitution C A intron_variant LICA-FR 7 5754790 5754790 single base substitution T C 3_prime_UTR_variant LICA-FR 7 5754790 5754790 single base substitution T C missense_variant Y519C 1556A>G LICA-FR 7 5754790 5754790 single base substitution T C missense_variant Y576C 1727A>G LICA-FR 7 5754790 5754790 single base substitution T C upstream_gene_variant LICA-FR 7 5774457 5774457 insertion of <=200bp - AAATAAATAAAT intron_variant LICA-FR 7 5788781 5788781 deletion of <=200bp T - intron_variant LICA-FR 7 5800842 5800842 single base substitution A G intron_variant LICA-FR 7 5800842 5800842 single base substitution A G upstream_gene_variant LIHC-US 7 5662625 5662625 single base substitution T C 3_prime_UTR_variant LIHC-US 7 5662625 5662625 single base substitution T C exon_variant LIHC-US 7 5662625 5662625 single base substitution T C missense_variant M823V 2467A>G LIHC-US 7 5662625 5662625 single base substitution T C missense_variant M880V 2638A>G LIHC-US 7 5681008 5681008 single base substitution C A splice_acceptor_variant LIHC-US 7 5756357 5756357 single base substitution T G 3_prime_UTR_variant LIHC-US 7 5756357 5756357 single base substitution T G missense_variant Q505P 1514A>C LIHC-US 7 5756357 5756357 single base substitution T G missense_variant Q562P 1685A>C LIHC-US 7 5756357 5756357 single base substitution T G upstream_gene_variant LINC-JP 7 5689252 5689252 deletion of <=200bp A - intron_variant LINC-JP 7 5692017 5692017 single base substitution A G intron_variant LINC-JP 7 5692017 5692017 single base substitution A G upstream_gene_variant LINC-JP 7 5692896 5692896 single base substitution A G intron_variant LINC-JP 7 5692896 5692896 single base substitution A G upstream_gene_variant LINC-JP 7 5704375 5704375 single base substitution C A intron_variant LINC-JP 7 5749084 5749084 single base substitution C T intron_variant LINC-JP 7 5753836 5753836 single base substitution C T intron_variant LINC-JP 7 5753836 5753836 single base substitution C T upstream_gene_variant LINC-JP 7 5756348 5756348 deletion of <=200bp T - frameshift_variant K508 LINC-JP 7 5756348 5756348 deletion of <=200bp T - frameshift_variant K565 LINC-JP 7 5756348 5756348 deletion of <=200bp T - splice_region_variant LINC-JP 7 5756348 5756348 deletion of <=200bp T - upstream_gene_variant LINC-JP 7 5760734 5760734 single base substitution C A 3_prime_UTR_variant LINC-JP 7 5760734 5760734 single base substitution C A missense_variant R468L 1403G>T LINC-JP 7 5760734 5760734 single base substitution C A missense_variant R525L 1574G>T LINC-JP 7 5760764 5760764 single base substitution T C 3_prime_UTR_variant LINC-JP 7 5760764 5760764 single base substitution T C missense_variant N458S 1373A>G LINC-JP 7 5760764 5760764 single base substitution T C missense_variant N515S 1544A>G LINC-JP 7 5767181 5767181 single base substitution G A downstream_gene_variant LINC-JP 7 5767181 5767181 single base substitution G A intron_variant LINC-JP 7 5770547 5770547 single base substitution C A intron_variant LINC-JP 7 5770879 5770879 single base substitution A C intron_variant LINC-JP 7 5780538 5780538 deletion of <=200bp A - downstream_gene_variant LINC-JP 7 5780538 5780538 deletion of <=200bp A - intron_variant LINC-JP 7 5780538 5780538 deletion of <=200bp A - upstream_gene_variant LINC-JP 7 5780650 5780650 single base substitution G C downstream_gene_variant LINC-JP 7 5780650 5780650 single base substitution G C exon_variant LINC-JP 7 5780650 5780650 single base substitution G C missense_variant A276G 827C>G LINC-JP 7 5780650 5780650 single base substitution G C missense_variant A333G 998C>G LINC-JP 7 5780650 5780650 single base substitution G C upstream_gene_variant LINC-JP 7 5781512 5781512 single base substitution T C intron_variant LINC-JP 7 5781512 5781512 single base substitution T C upstream_gene_variant LINC-JP 7 5784151 5784151 single base substitution T C intron_variant LIRI-JP 7 5655695 5655695 single base substitution G A downstream_gene_variant LIRI-JP 7 5656381 5656381 single base substitution T A downstream_gene_variant LIRI-JP 7 5664844 5664844 single base substitution C T intron_variant LIRI-JP 7 5666871 5666871 single base substitution C A intron_variant LIRI-JP 7 5667697 5667697 single base substitution T G intron_variant LIRI-JP 7 5668448 5668448 single base substitution C A intron_variant LIRI-JP 7 5668926 5668926 single base substitution A G intron_variant LIRI-JP 7 5672108 5672108 single base substitution A C intron_variant LIRI-JP 7 5672113 5672113 single base substitution T C intron_variant LIRI-JP 7 5672127 5672127 single base substitution A G intron_variant LIRI-JP 7 5673716 5673716 single base substitution C A intron_variant LIRI-JP 7 5675130 5675130 single base substitution T G intron_variant LIRI-JP 7 5679064 5679064 single base substitution C T downstream_gene_variant LIRI-JP 7 5679064 5679064 single base substitution C T intron_variant LIRI-JP 7 5680706 5680706 single base substitution G A downstream_gene_variant LIRI-JP 7 5680706 5680706 single base substitution G A intron_variant LIRI-JP 7 5682271 5682271 single base substitution G A intron_variant LIRI-JP 7 5682893 5682893 single base substitution G A intron_variant LIRI-JP 7 5683580 5683580 single base substitution G A intron_variant LIRI-JP 7 5683780 5683780 single base substitution T A intron_variant LIRI-JP 7 5684482 5684482 single base substitution G C intron_variant LIRI-JP 7 5687476 5687476 single base substitution T C intron_variant LIRI-JP 7 5688133 5688133 single base substitution G T intron_variant LIRI-JP 7 5688803 5688803 single base substitution A G intron_variant LIRI-JP 7 5690296 5690296 single base substitution G A intron_variant LIRI-JP 7 5690296 5690296 single base substitution G A upstream_gene_variant LIRI-JP 7 5690582 5690582 single base substitution T C intron_variant LIRI-JP 7 5690582 5690582 single base substitution T C upstream_gene_variant LIRI-JP 7 5691605 5691605 single base substitution T C intron_variant LIRI-JP 7 5691605 5691605 single base substitution T C upstream_gene_variant LIRI-JP 7 5691890 5691890 single base substitution A T intron_variant LIRI-JP 7 5691890 5691890 single base substitution A T upstream_gene_variant LIRI-JP 7 5694446 5694446 single base substitution A G intron_variant LIRI-JP 7 5694446 5694446 single base substitution A G upstream_gene_variant LIRI-JP 7 5700673 5700673 single base substitution A T intron_variant LIRI-JP 7 5701973 5701973 single base substitution T C intron_variant LIRI-JP 7 5702031 5702031 deletion of <=200bp C - intron_variant LIRI-JP 7 5702839 5702839 single base substitution C T intron_variant LIRI-JP 7 5708869 5708869 single base substitution A G intron_variant LIRI-JP 7 5710345 5710345 single base substitution C G intron_variant LIRI-JP 7 5712921 5712921 single base substitution T C intron_variant LIRI-JP 7 5717295 5717295 single base substitution C G intron_variant LIRI-JP 7 5719518 5719518 single base substitution G A intron_variant LIRI-JP 7 5721859 5721859 single base substitution C T intron_variant LIRI-JP 7 5722357 5722357 insertion of <=200bp - T intron_variant LIRI-JP 7 5722553 5722553 single base substitution A G intron_variant LIRI-JP 7 5724165 5724165 single base substitution C T intron_variant LIRI-JP 7 5724274 5724274 single base substitution C T intron_variant LIRI-JP 7 5724839 5724839 insertion of <=200bp - A intron_variant LIRI-JP 7 5725971 5725971 single base substitution T A intron_variant LIRI-JP 7 5726918 5726918 single base substitution T C intron_variant LIRI-JP 7 5729385 5729385 single base substitution G C intron_variant LIRI-JP 7 5730353 5730353 single base substitution A T intron_variant LIRI-JP 7 5730357 5730357 single base substitution A C intron_variant LIRI-JP 7 5730367 5730367 single base substitution C T intron_variant LIRI-JP 7 5730605 5730605 single base substitution C A intron_variant LIRI-JP 7 5732008 5732008 single base substitution G A intron_variant LIRI-JP 7 5732367 5732367 single base substitution T C intron_variant LIRI-JP 7 5732866 5732866 single base substitution C G intron_variant LIRI-JP 7 5733297 5733297 single base substitution A G intron_variant LIRI-JP 7 5735992 5736016 deletion of <=200bp CTGGAAAACAAGCCTTTTTAAATGA - intron_variant LIRI-JP 7 5738916 5738916 single base substitution A G intron_variant LIRI-JP 7 5741225 5741225 single base substitution G A intron_variant LIRI-JP 7 5743638 5743638 single base substitution T C intron_variant LIRI-JP 7 5744595 5744595 single base substitution C A intron_variant LIRI-JP 7 5746624 5746624 single base substitution G A intron_variant LIRI-JP 7 5749322 5749322 single base substitution C A intron_variant LIRI-JP 7 5749640 5749640 single base substitution C A intron_variant LIRI-JP 7 5750358 5750358 single base substitution T C intron_variant LIRI-JP 7 5752752 5752752 single base substitution C T intron_variant LIRI-JP 7 5753143 5753143 single base substitution G A intron_variant LIRI-JP 7 5753143 5753143 single base substitution G A upstream_gene_variant LIRI-JP 7 5753401 5753401 single base substitution C T intron_variant LIRI-JP 7 5753401 5753401 single base substitution C T upstream_gene_variant LIRI-JP 7 5753907 5753907 single base substitution G C intron_variant LIRI-JP 7 5753907 5753907 single base substitution G C upstream_gene_variant LIRI-JP 7 5754718 5754718 single base substitution C A 3_prime_UTR_variant LIRI-JP 7 5754718 5754718 single base substitution C A missense_variant R543I 1628G>T LIRI-JP 7 5754718 5754718 single base substitution C A missense_variant R600I 1799G>T LIRI-JP 7 5754718 5754718 single base substitution C A upstream_gene_variant LIRI-JP 7 5754979 5754979 single base substitution T C intron_variant LIRI-JP 7 5754979 5754979 single base substitution T C upstream_gene_variant LIRI-JP 7 5759149 5759149 single base substitution G A intron_variant LIRI-JP 7 5759936 5759936 single base substitution T C intron_variant LIRI-JP 7 5760681 5760681 single base substitution T C 3_prime_UTR_variant LIRI-JP 7 5760681 5760681 single base substitution T C missense_variant I486V 1456A>G LIRI-JP 7 5760681 5760681 single base substitution T C missense_variant I543V 1627A>G LIRI-JP 7 5763272 5763272 single base substitution C T intron_variant LIRI-JP 7 5765413 5765413 single base substitution G T downstream_gene_variant LIRI-JP 7 5765413 5765413 single base substitution G T intron_variant LIRI-JP 7 5765769 5765769 single base substitution C A downstream_gene_variant LIRI-JP 7 5765769 5765769 single base substitution C A intron_variant LIRI-JP 7 5769728 5769728 single base substitution T C intron_variant LIRI-JP 7 5769908 5769908 single base substitution T C intron_variant LIRI-JP 7 5774436 5774436 single base substitution C A intron_variant LIRI-JP 7 5774448 5774448 single base substitution T A intron_variant LIRI-JP 7 5774553 5774553 single base substitution A T intron_variant LIRI-JP 7 5778244 5778244 single base substitution C T downstream_gene_variant LIRI-JP 7 5778244 5778244 single base substitution C T intron_variant LIRI-JP 7 5778420 5778420 single base substitution G T downstream_gene_variant LIRI-JP 7 5778420 5778420 single base substitution G T intron_variant LIRI-JP 7 5781792 5781792 single base substitution C G intron_variant LIRI-JP 7 5781792 5781792 single base substitution C G upstream_gene_variant LIRI-JP 7 5784565 5784565 single base substitution T C intron_variant LIRI-JP 7 5786290 5786290 single base substitution C A intron_variant LIRI-JP 7 5788094 5788094 single base substitution T A intron_variant LIRI-JP 7 5788222 5788222 single base substitution C A intron_variant LIRI-JP 7 5789267 5789267 single base substitution T C intron_variant LIRI-JP 7 5791807 5791807 single base substitution T C intron_variant LIRI-JP 7 5794026 5794026 single base substitution C T intron_variant LIRI-JP 7 5794163 5794163 single base substitution T C intron_variant LIRI-JP 7 5795739 5795739 single base substitution G C downstream_gene_variant LIRI-JP 7 5795739 5795739 single base substitution G C intron_variant LIRI-JP 7 5796241 5796241 single base substitution G T downstream_gene_variant LIRI-JP 7 5796241 5796241 single base substitution G T intron_variant LIRI-JP 7 5801572 5801572 single base substitution T C intron_variant LIRI-JP 7 5801572 5801572 single base substitution T C upstream_gene_variant LIRI-JP 7 5806383 5806383 single base substitution T C intron_variant LIRI-JP 7 5813865 5813865 single base substitution C T intron_variant LIRI-JP 7 5816101 5816101 single base substitution C T intron_variant LIRI-JP 7 5817928 5817928 single base substitution T C intron_variant LIRI-JP 7 5818264 5818264 single base substitution T C intron_variant LIRI-JP 7 5821732 5821732 single base substitution C T upstream_gene_variant LIRI-JP 7 5821929 5821929 single base substitution C T upstream_gene_variant LIRI-JP 7 5825285 5825285 single base substitution A T upstream_gene_variant LIRI-JP 7 5825290 5825290 single base substitution G A upstream_gene_variant LUSC-KR 7 5661705 5661705 single base substitution C G 3_prime_UTR_variant LUSC-KR 7 5661705 5661705 single base substitution C G downstream_gene_variant LUSC-KR 7 5667777 5667777 single base substitution C G intron_variant LUSC-KR 7 5678281 5678281 single base substitution G T downstream_gene_variant LUSC-KR 7 5678281 5678281 single base substitution G T intron_variant LUSC-KR 7 5679259 5679259 single base substitution T C downstream_gene_variant LUSC-KR 7 5679259 5679259 single base substitution T C intron_variant LUSC-KR 7 5680223 5680223 single base substitution C G downstream_gene_variant LUSC-KR 7 5680223 5680223 single base substitution C G intron_variant LUSC-KR 7 5680413 5680413 single base substitution C G downstream_gene_variant LUSC-KR 7 5680413 5680413 single base substitution C G intron_variant LUSC-KR 7 5681689 5681689 single base substitution G A intron_variant LUSC-KR 7 5682004 5682004 single base substitution C A intron_variant LUSC-KR 7 5684087 5684087 single base substitution C T intron_variant LUSC-KR 7 5684295 5684295 single base substitution C A intron_variant LUSC-KR 7 5687251 5687251 single base substitution G A intron_variant LUSC-KR 7 5690233 5690233 single base substitution T A intron_variant LUSC-KR 7 5690233 5690233 single base substitution T A upstream_gene_variant LUSC-KR 7 5690646 5690646 single base substitution C A intron_variant LUSC-KR 7 5690646 5690646 single base substitution C A upstream_gene_variant LUSC-KR 7 5691747 5691747 single base substitution C G intron_variant LUSC-KR 7 5691747 5691747 single base substitution C G upstream_gene_variant LUSC-KR 7 5696090 5696090 single base substitution G T intron_variant LUSC-KR 7 5697295 5697295 single base substitution C A intron_variant LUSC-KR 7 5698307 5698307 single base substitution T A intron_variant LUSC-KR 7 5702682 5702682 single base substitution C T intron_variant LUSC-KR 7 5703899 5703899 single base substitution G C intron_variant LUSC-KR 7 5711051 5711051 single base substitution G C intron_variant LUSC-KR 7 5712858 5712858 single base substitution T C intron_variant LUSC-KR 7 5723550 5723550 single base substitution C T intron_variant LUSC-KR 7 5729350 5729350 single base substitution C T intron_variant LUSC-KR 7 5737697 5737697 single base substitution T C intron_variant LUSC-KR 7 5738408 5738408 single base substitution C G intron_variant LUSC-KR 7 5747373 5747373 single base substitution G T intron_variant LUSC-KR 7 5747644 5747644 single base substitution C A intron_variant LUSC-KR 7 5759084 5759084 single base substitution G T intron_variant LUSC-KR 7 5761896 5761896 single base substitution C T intron_variant LUSC-KR 7 5762029 5762029 single base substitution G T intron_variant LUSC-KR 7 5764462 5764462 single base substitution G A downstream_gene_variant LUSC-KR 7 5764462 5764462 single base substitution G A intron_variant LUSC-KR 7 5767202 5767202 single base substitution G T downstream_gene_variant LUSC-KR 7 5767202 5767202 single base substitution G T intron_variant LUSC-KR 7 5770073 5770073 single base substitution A C intron_variant LUSC-KR 7 5770084 5770084 single base substitution A G intron_variant LUSC-KR 7 5770521 5770521 single base substitution G T intron_variant LUSC-KR 7 5770548 5770548 single base substitution A G intron_variant LUSC-KR 7 5771215 5771215 single base substitution A G intron_variant LUSC-KR 7 5771230 5771230 single base substitution C A intron_variant LUSC-KR 7 5779919 5779919 single base substitution G A downstream_gene_variant LUSC-KR 7 5779919 5779919 single base substitution G A intron_variant LUSC-KR 7 5779919 5779919 single base substitution G A upstream_gene_variant LUSC-KR 7 5780508 5780508 single base substitution C T downstream_gene_variant LUSC-KR 7 5780508 5780508 single base substitution C T intron_variant LUSC-KR 7 5780508 5780508 single base substitution C T upstream_gene_variant LUSC-KR 7 5781559 5781559 single base substitution C A intron_variant LUSC-KR 7 5781559 5781559 single base substitution C A upstream_gene_variant LUSC-KR 7 5787367 5787367 single base substitution G C intron_variant LUSC-KR 7 5788540 5788540 single base substitution A G intron_variant LUSC-KR 7 5794702 5794702 single base substitution T G intron_variant LUSC-KR 7 5808571 5808571 single base substitution C G intron_variant LUSC-KR 7 5810746 5810746 single base substitution G C intron_variant LUSC-US 7 5754762 5754762 single base substitution C A 3_prime_UTR_variant LUSC-US 7 5754762 5754762 single base substitution C A synonymous_variant T528T 1584G>T LUSC-US 7 5754762 5754762 single base substitution C A synonymous_variant T585T 1755G>T LUSC-US 7 5754762 5754762 single base substitution C A upstream_gene_variant LUSC-US 7 5769095 5769095 single base substitution C A 3_prime_UTR_variant LUSC-US 7 5769095 5769095 single base substitution C A downstream_gene_variant LUSC-US 7 5769095 5769095 single base substitution C A stop_gained E396* 1186G>T LUSC-US 7 5769095 5769095 single base substitution C A stop_gained E453* 1357G>T LUSC-US 7 5780740 5780740 single base substitution T A downstream_gene_variant LUSC-US 7 5780740 5780740 single base substitution T A exon_variant LUSC-US 7 5780740 5780740 single base substitution T A missense_variant Q246L 737A>T LUSC-US 7 5780740 5780740 single base substitution T A missense_variant Q303L 908A>T LUSC-US 7 5780740 5780740 single base substitution T A upstream_gene_variant MALY-DE 7 5655644 5655644 deletion of <=200bp C - downstream_gene_variant MALY-DE 7 5658239 5658239 single base substitution G T downstream_gene_variant MALY-DE 7 5665913 5665913 insertion of <=200bp - ACT intron_variant MALY-DE 7 5670493 5670493 single base substitution C T intron_variant MALY-DE 7 5672612 5672612 single base substitution C T intron_variant MALY-DE 7 5676112 5676112 single base substitution A G downstream_gene_variant MALY-DE 7 5676112 5676112 single base substitution A G intron_variant MALY-DE 7 5679888 5679888 single base substitution A C downstream_gene_variant MALY-DE 7 5679888 5679888 single base substitution A C intron_variant MALY-DE 7 5682523 5682523 single base substitution C T intron_variant MALY-DE 7 5694825 5694825 single base substitution G A intron_variant MALY-DE 7 5701314 5701314 single base substitution A C intron_variant MALY-DE 7 5711811 5711811 single base substitution G A intron_variant MALY-DE 7 5712095 5712095 single base substitution T C intron_variant MALY-DE 7 5734473 5734473 single base substitution T G intron_variant MALY-DE 7 5738419 5738419 single base substitution A G intron_variant MALY-DE 7 5740992 5740992 single base substitution T C intron_variant MALY-DE 7 5791688 5791688 single base substitution C T intron_variant MALY-DE 7 5791867 5791867 single base substitution A C intron_variant MALY-DE 7 5810606 5810606 single base substitution T C intron_variant MALY-DE 7 5812472 5812472 single base substitution G A intron_variant MELA-AU 7 5655276 5655276 single base substitution G A downstream_gene_variant MELA-AU 7 5655733 5655733 single base substitution G A downstream_gene_variant MELA-AU 7 5655961 5655961 single base substitution G A downstream_gene_variant MELA-AU 7 5656065 5656065 single base substitution C T downstream_gene_variant MELA-AU 7 5656066 5656066 single base substitution G A downstream_gene_variant MELA-AU 7 5657966 5657966 single base substitution C T downstream_gene_variant MELA-AU 7 5658118 5658118 single base substitution G C downstream_gene_variant MELA-AU 7 5658236 5658236 single base substitution C T downstream_gene_variant MELA-AU 7 5658911 5658911 single base substitution A T downstream_gene_variant MELA-AU 7 5659371 5659371 single base substitution G A downstream_gene_variant MELA-AU 7 5659388 5659388 single base substitution G A downstream_gene_variant MELA-AU 7 5659478 5659479 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 5660058 5660058 single base substitution G A 3_prime_UTR_variant MELA-AU 7 5660058 5660058 single base substitution G A downstream_gene_variant MELA-AU 7 5661353 5661353 single base substitution G A 3_prime_UTR_variant MELA-AU 7 5661353 5661353 single base substitution G A downstream_gene_variant MELA-AU 7 5661640 5661640 single base substitution G A 3_prime_UTR_variant MELA-AU 7 5661640 5661640 single base substitution G A downstream_gene_variant MELA-AU 7 5661760 5661760 single base substitution T C 3_prime_UTR_variant MELA-AU 7 5661760 5661760 single base substitution T C downstream_gene_variant MELA-AU 7 5661806 5661806 single base substitution G A 3_prime_UTR_variant MELA-AU 7 5661806 5661806 single base substitution G A downstream_gene_variant MELA-AU 7 5662114 5662114 single base substitution G A 3_prime_UTR_variant MELA-AU 7 5662114 5662114 single base substitution G A downstream_gene_variant MELA-AU 7 5662282 5662282 single base substitution G A 3_prime_UTR_variant MELA-AU 7 5662282 5662282 single base substitution G A downstream_gene_variant MELA-AU 7 5662452 5662452 single base substitution C T 3_prime_UTR_variant MELA-AU 7 5662452 5662452 single base substitution C T downstream_gene_variant MELA-AU 7 5662660 5662660 single base substitution G A 3_prime_UTR_variant MELA-AU 7 5662660 5662660 single base substitution G A exon_variant MELA-AU 7 5662660 5662660 single base substitution G A missense_variant P811L 2432C>T MELA-AU 7 5662660 5662660 single base substitution G A missense_variant P868L 2603C>T MELA-AU 7 5662700 5662700 single base substitution G A 3_prime_UTR_variant MELA-AU 7 5662700 5662700 single base substitution G A exon_variant MELA-AU 7 5662700 5662700 single base substitution G A missense_variant P798S 2392C>T MELA-AU 7 5662700 5662700 single base substitution G A missense_variant P855S 2563C>T MELA-AU 7 5662732 5662732 single base substitution G A 3_prime_UTR_variant MELA-AU 7 5662732 5662732 single base substitution G A exon_variant MELA-AU 7 5662732 5662732 single base substitution G A missense_variant P787L 2360C>T MELA-AU 7 5662732 5662732 single base substitution G A missense_variant P844L 2531C>T MELA-AU 7 5662743 5662743 single base substitution G A 3_prime_UTR_variant MELA-AU 7 5662743 5662743 single base substitution G A exon_variant MELA-AU 7 5662743 5662743 single base substitution G A synonymous_variant A783A 2349C>T MELA-AU 7 5662743 5662743 single base substitution G A synonymous_variant A840A 2520C>T MELA-AU 7 5663470 5663470 single base substitution C T intron_variant MELA-AU 7 5663494 5663494 single base substitution T A intron_variant MELA-AU 7 5663748 5663748 single base substitution A T 3_prime_UTR_variant MELA-AU 7 5663748 5663748 single base substitution A T exon_variant MELA-AU 7 5663748 5663748 single base substitution A T missense_variant D740E 2220T>A MELA-AU 7 5663748 5663748 single base substitution A T missense_variant D797E 2391T>A MELA-AU 7 5663900 5663900 single base substitution C T intron_variant MELA-AU 7 5664275 5664275 single base substitution G A intron_variant MELA-AU 7 5664307 5664307 single base substitution C T intron_variant MELA-AU 7 5664309 5664309 single base substitution T A intron_variant MELA-AU 7 5664733 5664733 single base substitution G A intron_variant MELA-AU 7 5665929 5665929 single base substitution T C intron_variant MELA-AU 7 5666711 5666711 single base substitution G A intron_variant MELA-AU 7 5666791 5666792 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 5668203 5668203 single base substitution G A intron_variant MELA-AU 7 5668314 5668314 single base substitution G A intron_variant MELA-AU 7 5668650 5668650 single base substitution G A intron_variant MELA-AU 7 5669874 5669874 single base substitution G A intron_variant MELA-AU 7 5670012 5670012 single base substitution T C intron_variant MELA-AU 7 5670676 5670676 single base substitution G A intron_variant MELA-AU 7 5670808 5670808 single base substitution G A intron_variant MELA-AU 7 5671280 5671280 single base substitution G A intron_variant MELA-AU 7 5672084 5672084 single base substitution G A intron_variant MELA-AU 7 5672310 5672310 single base substitution A C intron_variant MELA-AU 7 5672376 5672376 single base substitution C T intron_variant MELA-AU 7 5674489 5674489 single base substitution G A intron_variant MELA-AU 7 5675006 5675006 single base substitution G A intron_variant MELA-AU 7 5676704 5676704 single base substitution C T downstream_gene_variant MELA-AU 7 5676704 5676704 single base substitution C T intron_variant MELA-AU 7 5677540 5677540 single base substitution G A downstream_gene_variant MELA-AU 7 5677540 5677540 single base substitution G A intron_variant MELA-AU 7 5678647 5678647 single base substitution T C downstream_gene_variant MELA-AU 7 5678647 5678647 single base substitution T C intron_variant MELA-AU 7 5679360 5679360 single base substitution G T downstream_gene_variant MELA-AU 7 5679360 5679360 single base substitution G T intron_variant MELA-AU 7 5679415 5679415 single base substitution G A downstream_gene_variant MELA-AU 7 5679415 5679415 single base substitution G A intron_variant MELA-AU 7 5679582 5679582 single base substitution G A downstream_gene_variant MELA-AU 7 5679582 5679582 single base substitution G A intron_variant MELA-AU 7 5680226 5680226 single base substitution G A downstream_gene_variant MELA-AU 7 5680226 5680226 single base substitution G A intron_variant MELA-AU 7 5681036 5681037 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 5682353 5682353 single base substitution G A intron_variant MELA-AU 7 5682416 5682416 single base substitution A G intron_variant MELA-AU 7 5682584 5682584 single base substitution C T intron_variant MELA-AU 7 5683564 5683564 single base substitution G A intron_variant MELA-AU 7 5683570 5683570 single base substitution G A intron_variant MELA-AU 7 5683670 5683670 single base substitution T C intron_variant MELA-AU 7 5683682 5683683 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 5684918 5684918 single base substitution G A intron_variant MELA-AU 7 5685202 5685202 single base substitution G A intron_variant MELA-AU 7 5685789 5685789 single base substitution A T intron_variant MELA-AU 7 5685828 5685828 single base substitution C T intron_variant MELA-AU 7 5685980 5685980 single base substitution G A intron_variant MELA-AU 7 5686029 5686029 single base substitution G A intron_variant MELA-AU 7 5686030 5686030 single base substitution G A intron_variant MELA-AU 7 5686764 5686764 single base substitution G A intron_variant MELA-AU 7 5687548 5687548 single base substitution G A intron_variant MELA-AU 7 5687958 5687958 single base substitution G A intron_variant MELA-AU 7 5688071 5688071 single base substitution G A intron_variant MELA-AU 7 5688426 5688426 single base substitution G A intron_variant MELA-AU 7 5688637 5688637 single base substitution G A intron_variant MELA-AU 7 5689016 5689016 deletion of <=200bp G - intron_variant MELA-AU 7 5689020 5689020 single base substitution A G intron_variant MELA-AU 7 5689215 5689215 single base substitution G A intron_variant MELA-AU 7 5689505 5689505 single base substitution G A exon_variant MELA-AU 7 5689505 5689505 single base substitution G A intron_variant MELA-AU 7 5691403 5691403 single base substitution C T intron_variant MELA-AU 7 5691403 5691403 single base substitution C T upstream_gene_variant MELA-AU 7 5691709 5691709 single base substitution G A intron_variant MELA-AU 7 5691709 5691709 single base substitution G A upstream_gene_variant MELA-AU 7 5691790 5691790 single base substitution G A intron_variant MELA-AU 7 5691790 5691790 single base substitution G A upstream_gene_variant MELA-AU 7 5692050 5692050 single base substitution G A 3_prime_UTR_variant MELA-AU 7 5692050 5692050 single base substitution G A exon_variant MELA-AU 7 5692050 5692050 single base substitution G A missense_variant T661I 1982C>T MELA-AU 7 5692050 5692050 single base substitution G A missense_variant T718I 2153C>T MELA-AU 7 5692050 5692050 single base substitution G A upstream_gene_variant MELA-AU 7 5692220 5692220 single base substitution G A intron_variant MELA-AU 7 5692220 5692220 single base substitution G A upstream_gene_variant MELA-AU 7 5692488 5692488 single base substitution G A intron_variant MELA-AU 7 5692488 5692488 single base substitution G A upstream_gene_variant MELA-AU 7 5692762 5692762 single base substitution G A intron_variant MELA-AU 7 5692762 5692762 single base substitution G A upstream_gene_variant MELA-AU 7 5693209 5693209 single base substitution G A intron_variant MELA-AU 7 5693209 5693209 single base substitution G A upstream_gene_variant MELA-AU 7 5693464 5693465 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 5693464 5693465 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 5693503 5693503 single base substitution G A intron_variant MELA-AU 7 5693503 5693503 single base substitution G A upstream_gene_variant MELA-AU 7 5693861 5693861 single base substitution G A intron_variant MELA-AU 7 5693861 5693861 single base substitution G A upstream_gene_variant MELA-AU 7 5694748 5694748 single base substitution G A intron_variant MELA-AU 7 5695506 5695506 single base substitution G A intron_variant MELA-AU 7 5695613 5695613 single base substitution G A intron_variant MELA-AU 7 5695675 5695675 single base substitution G A intron_variant MELA-AU 7 5696131 5696131 single base substitution G A intron_variant MELA-AU 7 5696196 5696196 single base substitution G A intron_variant MELA-AU 7 5696614 5696614 single base substitution G A intron_variant MELA-AU 7 5697186 5697186 single base substitution G A intron_variant MELA-AU 7 5697250 5697250 single base substitution T C intron_variant MELA-AU 7 5698199 5698199 single base substitution G A intron_variant MELA-AU 7 5698687 5698687 single base substitution C T intron_variant MELA-AU 7 5699257 5699257 single base substitution G A intron_variant MELA-AU 7 5699539 5699539 single base substitution G A intron_variant MELA-AU 7 5699790 5699790 single base substitution C T intron_variant MELA-AU 7 5700074 5700074 single base substitution G A intron_variant MELA-AU 7 5700156 5700156 single base substitution G A intron_variant MELA-AU 7 5700616 5700616 single base substitution T A intron_variant MELA-AU 7 5700947 5700947 single base substitution C T intron_variant MELA-AU 7 5701037 5701037 single base substitution G A intron_variant MELA-AU 7 5701625 5701625 single base substitution G A intron_variant MELA-AU 7 5702321 5702321 single base substitution G A intron_variant MELA-AU 7 5702515 5702515 single base substitution G A intron_variant MELA-AU 7 5702539 5702539 single base substitution G A intron_variant MELA-AU 7 5702809 5702809 single base substitution G A intron_variant MELA-AU 7 5702878 5702878 single base substitution G A intron_variant MELA-AU 7 5703291 5703291 single base substitution G A intron_variant MELA-AU 7 5704681 5704682 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 5706052 5706052 single base substitution G A intron_variant MELA-AU 7 5706172 5706172 single base substitution G A intron_variant MELA-AU 7 5706690 5706690 single base substitution G A intron_variant MELA-AU 7 5707529 5707529 single base substitution G A intron_variant MELA-AU 7 5709261 5709261 single base substitution C T intron_variant MELA-AU 7 5709292 5709292 single base substitution G A intron_variant MELA-AU 7 5709705 5709705 single base substitution G A intron_variant MELA-AU 7 5709864 5709864 single base substitution C T intron_variant MELA-AU 7 5710202 5710202 single base substitution G A intron_variant MELA-AU 7 5710212 5710212 single base substitution G A intron_variant MELA-AU 7 5710488 5710488 single base substitution T C intron_variant MELA-AU 7 5710615 5710615 single base substitution C T intron_variant MELA-AU 7 5710680 5710680 single base substitution G A intron_variant MELA-AU 7 5710730 5710731 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 5711482 5711482 single base substitution G A intron_variant MELA-AU 7 5711562 5711562 single base substitution G A intron_variant MELA-AU 7 5712415 5712415 single base substitution G A intron_variant MELA-AU 7 5712503 5712503 single base substitution G T intron_variant MELA-AU 7 5712548 5712548 single base substitution G A intron_variant MELA-AU 7 5712731 5712731 single base substitution C T intron_variant MELA-AU 7 5712814 5712814 single base substitution A C intron_variant MELA-AU 7 5712828 5712828 single base substitution G A intron_variant MELA-AU 7 5713710 5713710 single base substitution G A intron_variant MELA-AU 7 5713791 5713791 single base substitution G A intron_variant MELA-AU 7 5714162 5714162 single base substitution G A intron_variant MELA-AU 7 5714972 5714972 single base substitution G A intron_variant MELA-AU 7 5715255 5715255 single base substitution G A intron_variant MELA-AU 7 5715550 5715551 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 7 5716341 5716341 single base substitution A C intron_variant MELA-AU 7 5717132 5717133 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 5718020 5718020 single base substitution G A intron_variant MELA-AU 7 5718130 5718130 single base substitution G A intron_variant MELA-AU 7 5718228 5718228 single base substitution C T intron_variant MELA-AU 7 5718613 5718613 single base substitution G A intron_variant MELA-AU 7 5718815 5718815 single base substitution C T intron_variant MELA-AU 7 5720619 5720619 single base substitution C T intron_variant MELA-AU 7 5720932 5720932 single base substitution G A intron_variant MELA-AU 7 5720962 5720962 single base substitution G A intron_variant MELA-AU 7 5722252 5722252 single base substitution G A intron_variant MELA-AU 7 5722458 5722458 single base substitution A T intron_variant MELA-AU 7 5723764 5723764 single base substitution C T intron_variant MELA-AU 7 5723930 5723930 single base substitution G A intron_variant MELA-AU 7 5724107 5724107 single base substitution T C intron_variant MELA-AU 7 5724824 5724825 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 5724913 5724913 single base substitution G A intron_variant MELA-AU 7 5725115 5725115 single base substitution G A intron_variant MELA-AU 7 5725307 5725307 single base substitution C T intron_variant MELA-AU 7 5725757 5725757 single base substitution G A intron_variant MELA-AU 7 5726618 5726618 single base substitution G A intron_variant MELA-AU 7 5726626 5726626 single base substitution G A intron_variant MELA-AU 7 5727628 5727628 single base substitution G A intron_variant MELA-AU 7 5729073 5729073 single base substitution C T intron_variant MELA-AU 7 5729543 5729543 single base substitution G T intron_variant MELA-AU 7 5729850 5729850 single base substitution T A intron_variant MELA-AU 7 5730096 5730096 single base substitution G A intron_variant MELA-AU 7 5731136 5731136 single base substitution A G intron_variant MELA-AU 7 5731574 5731574 single base substitution G A intron_variant MELA-AU 7 5732229 5732229 insertion of <=200bp - GCA intron_variant MELA-AU 7 5732813 5732813 single base substitution T C intron_variant MELA-AU 7 5734304 5734304 single base substitution G A intron_variant MELA-AU 7 5735635 5735635 single base substitution G A intron_variant MELA-AU 7 5735655 5735655 single base substitution G A intron_variant MELA-AU 7 5735764 5735764 single base substitution G A intron_variant MELA-AU 7 5736641 5736641 single base substitution G A intron_variant MELA-AU 7 5737528 5737528 single base substitution G A intron_variant MELA-AU 7 5737780 5737780 single base substitution A G intron_variant MELA-AU 7 5738442 5738442 single base substitution C T intron_variant MELA-AU 7 5738582 5738582 single base substitution G A intron_variant MELA-AU 7 5738983 5738984 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 5740734 5740734 single base substitution C T intron_variant MELA-AU 7 5740741 5740741 single base substitution G A intron_variant MELA-AU 7 5740901 5740901 single base substitution G A intron_variant MELA-AU 7 5741611 5741611 single base substitution G A intron_variant MELA-AU 7 5741816 5741816 single base substitution G A intron_variant MELA-AU 7 5741817 5741817 single base substitution G A intron_variant MELA-AU 7 5742613 5742613 single base substitution G A intron_variant MELA-AU 7 5743213 5743214 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 5743217 5743217 single base substitution G A intron_variant MELA-AU 7 5745100 5745100 single base substitution G A intron_variant MELA-AU 7 5745526 5745526 single base substitution G A intron_variant MELA-AU 7 5745549 5745553 deletion of <=200bp AAAAC - intron_variant MELA-AU 7 5745549 5745558 deletion of <=200bp AAAACAAAAC - intron_variant MELA-AU 7 5746234 5746234 single base substitution A C intron_variant MELA-AU 7 5747187 5747187 single base substitution C T intron_variant MELA-AU 7 5747840 5747840 single base substitution T C intron_variant MELA-AU 7 5748728 5748729 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 5749252 5749252 single base substitution C G intron_variant MELA-AU 7 5750003 5750003 deletion of <=200bp C - intron_variant MELA-AU 7 5750355 5750355 single base substitution C T intron_variant MELA-AU 7 5750415 5750415 single base substitution T A intron_variant MELA-AU 7 5752117 5752117 single base substitution G A intron_variant MELA-AU 7 5752307 5752307 single base substitution G A intron_variant MELA-AU 7 5752388 5752388 single base substitution G A 3_prime_UTR_variant MELA-AU 7 5752388 5752388 single base substitution G A exon_variant MELA-AU 7 5752388 5752388 single base substitution G A missense_variant A590V 1769C>T MELA-AU 7 5752388 5752388 single base substitution G A missense_variant A647V 1940C>T MELA-AU 7 5753614 5753623 deletion of <=200bp TCTTTGAAAA - intron_variant MELA-AU 7 5753614 5753623 deletion of <=200bp TCTTTGAAAA - upstream_gene_variant MELA-AU 7 5754142 5754142 single base substitution G A intron_variant MELA-AU 7 5754142 5754142 single base substitution G A upstream_gene_variant MELA-AU 7 5755057 5755057 single base substitution T A intron_variant MELA-AU 7 5755057 5755057 single base substitution T A upstream_gene_variant MELA-AU 7 5755077 5755077 single base substitution T A intron_variant MELA-AU 7 5755077 5755077 single base substitution T A upstream_gene_variant MELA-AU 7 5755103 5755103 single base substitution G A intron_variant MELA-AU 7 5755103 5755103 single base substitution G A upstream_gene_variant MELA-AU 7 5755751 5755751 single base substitution G A intron_variant MELA-AU 7 5755751 5755751 single base substitution G A upstream_gene_variant MELA-AU 7 5756206 5756206 single base substitution C T intron_variant MELA-AU 7 5756206 5756206 single base substitution C T upstream_gene_variant MELA-AU 7 5756751 5756751 single base substitution G A intron_variant MELA-AU 7 5756751 5756751 single base substitution G A upstream_gene_variant MELA-AU 7 5757317 5757317 single base substitution G A intron_variant MELA-AU 7 5757317 5757317 single base substitution G A upstream_gene_variant MELA-AU 7 5758392 5758392 single base substitution G A intron_variant MELA-AU 7 5758651 5758651 single base substitution T C intron_variant MELA-AU 7 5761069 5761069 single base substitution G A intron_variant MELA-AU 7 5761352 5761352 single base substitution G A intron_variant MELA-AU 7 5762457 5762457 single base substitution A T intron_variant MELA-AU 7 5763061 5763061 single base substitution G A intron_variant MELA-AU 7 5763141 5763141 single base substitution G A intron_variant MELA-AU 7 5763175 5763175 single base substitution G A intron_variant MELA-AU 7 5763688 5763688 single base substitution G A intron_variant MELA-AU 7 5763853 5763853 single base substitution G A intron_variant MELA-AU 7 5764214 5764214 single base substitution G A downstream_gene_variant MELA-AU 7 5764214 5764214 single base substitution G A intron_variant MELA-AU 7 5764239 5764239 single base substitution G A downstream_gene_variant MELA-AU 7 5764239 5764239 single base substitution G A intron_variant MELA-AU 7 5764794 5764794 single base substitution A T downstream_gene_variant MELA-AU 7 5764794 5764794 single base substitution A T intron_variant MELA-AU 7 5766697 5766697 single base substitution C G downstream_gene_variant MELA-AU 7 5766697 5766697 single base substitution C G intron_variant MELA-AU 7 5766888 5766888 single base substitution T G downstream_gene_variant MELA-AU 7 5766888 5766888 single base substitution T G intron_variant MELA-AU 7 5766896 5766896 single base substitution G A downstream_gene_variant MELA-AU 7 5766896 5766896 single base substitution G A intron_variant MELA-AU 7 5767120 5767120 single base substitution G A downstream_gene_variant MELA-AU 7 5767120 5767120 single base substitution G A intron_variant MELA-AU 7 5767260 5767260 single base substitution G A downstream_gene_variant MELA-AU 7 5767260 5767260 single base substitution G A intron_variant MELA-AU 7 5767726 5767726 single base substitution C T downstream_gene_variant MELA-AU 7 5767726 5767726 single base substitution C T intron_variant MELA-AU 7 5769012 5769012 single base substitution G A downstream_gene_variant MELA-AU 7 5769012 5769012 single base substitution G A intron_variant MELA-AU 7 5769255 5769255 single base substitution G A intron_variant MELA-AU 7 5769434 5769434 single base substitution T C intron_variant MELA-AU 7 5769501 5769501 single base substitution G A intron_variant MELA-AU 7 5769584 5769584 single base substitution T C intron_variant MELA-AU 7 5770252 5770252 single base substitution A G intron_variant MELA-AU 7 5771584 5771584 single base substitution C T intron_variant MELA-AU 7 5771729 5771729 single base substitution G A intron_variant MELA-AU 7 5772759 5772759 single base substitution T G exon_variant MELA-AU 7 5772759 5772759 single base substitution T G intron_variant MELA-AU 7 5772983 5772983 single base substitution A G intron_variant MELA-AU 7 5773237 5773237 single base substitution T A intron_variant MELA-AU 7 5774077 5774077 single base substitution G A intron_variant MELA-AU 7 5774349 5774349 single base substitution G A intron_variant MELA-AU 7 5774469 5774469 insertion of <=200bp - AAAC intron_variant MELA-AU 7 5774472 5774472 single base substitution T C intron_variant MELA-AU 7 5774514 5774514 single base substitution T C intron_variant MELA-AU 7 5774522 5774522 single base substitution C T intron_variant MELA-AU 7 5774659 5774659 single base substitution C T intron_variant MELA-AU 7 5774732 5774732 single base substitution A C intron_variant MELA-AU 7 5775039 5775039 single base substitution C T intron_variant MELA-AU 7 5775187 5775187 single base substitution G A intron_variant MELA-AU 7 5775547 5775547 single base substitution G A intron_variant MELA-AU 7 5776622 5776622 single base substitution C T downstream_gene_variant MELA-AU 7 5776622 5776622 single base substitution C T intron_variant MELA-AU 7 5777645 5777645 single base substitution G A downstream_gene_variant MELA-AU 7 5777645 5777645 single base substitution G A intron_variant MELA-AU 7 5778328 5778328 single base substitution G A downstream_gene_variant MELA-AU 7 5778328 5778328 single base substitution G A intron_variant MELA-AU 7 5778558 5778558 single base substitution G A downstream_gene_variant MELA-AU 7 5778558 5778558 single base substitution G A intron_variant MELA-AU 7 5778723 5778723 single base substitution G A downstream_gene_variant MELA-AU 7 5778723 5778723 single base substitution G A intron_variant MELA-AU 7 5779446 5779446 single base substitution A G downstream_gene_variant MELA-AU 7 5779446 5779446 single base substitution A G intron_variant MELA-AU 7 5779446 5779446 single base substitution A G upstream_gene_variant MELA-AU 7 5780341 5780341 single base substitution G A downstream_gene_variant MELA-AU 7 5780341 5780341 single base substitution G A intron_variant MELA-AU 7 5780341 5780341 single base substitution G A upstream_gene_variant MELA-AU 7 5780367 5780367 single base substitution A C downstream_gene_variant MELA-AU 7 5780367 5780367 single base substitution A C intron_variant MELA-AU 7 5780367 5780367 single base substitution A C upstream_gene_variant MELA-AU 7 5780777 5780777 single base substitution G A downstream_gene_variant MELA-AU 7 5780777 5780777 single base substitution G A exon_variant MELA-AU 7 5780777 5780777 single base substitution G A stop_gained Q234* 700C>T MELA-AU 7 5780777 5780777 single base substitution G A stop_gained Q291* 871C>T MELA-AU 7 5780777 5780777 single base substitution G A upstream_gene_variant MELA-AU 7 5781398 5781398 single base substitution G A intron_variant MELA-AU 7 5781398 5781398 single base substitution G A stop_gained Q84* 250C>T MELA-AU 7 5781398 5781398 single base substitution G A upstream_gene_variant MELA-AU 7 5781573 5781573 single base substitution A G intron_variant MELA-AU 7 5781573 5781573 single base substitution A G upstream_gene_variant MELA-AU 7 5782204 5782204 single base substitution G A intron_variant MELA-AU 7 5782204 5782204 single base substitution G A upstream_gene_variant MELA-AU 7 5782257 5782257 single base substitution C T intron_variant MELA-AU 7 5782257 5782257 single base substitution C T upstream_gene_variant MELA-AU 7 5782615 5782615 single base substitution C T intron_variant MELA-AU 7 5782615 5782615 single base substitution C T upstream_gene_variant MELA-AU 7 5782818 5782818 single base substitution G A intron_variant MELA-AU 7 5782818 5782818 single base substitution G A upstream_gene_variant MELA-AU 7 5783107 5783107 single base substitution G A intron_variant MELA-AU 7 5783107 5783107 single base substitution G A upstream_gene_variant MELA-AU 7 5783359 5783359 single base substitution T C intron_variant MELA-AU 7 5783359 5783359 single base substitution T C upstream_gene_variant MELA-AU 7 5783467 5783467 single base substitution C T intron_variant MELA-AU 7 5783467 5783467 single base substitution C T upstream_gene_variant MELA-AU 7 5783764 5783764 single base substitution G A intron_variant MELA-AU 7 5783764 5783764 single base substitution G A upstream_gene_variant MELA-AU 7 5784094 5784094 single base substitution A G intron_variant MELA-AU 7 5784094 5784094 single base substitution A G upstream_gene_variant MELA-AU 7 5784156 5784156 single base substitution G A intron_variant MELA-AU 7 5784490 5784490 single base substitution T A intron_variant MELA-AU 7 5784619 5784619 single base substitution A T intron_variant MELA-AU 7 5784711 5784711 single base substitution G A intron_variant MELA-AU 7 5785096 5785096 single base substitution G A intron_variant MELA-AU 7 5785431 5785431 single base substitution G A intron_variant MELA-AU 7 5785574 5785574 single base substitution G A intron_variant MELA-AU 7 5785719 5785719 single base substitution G A intron_variant MELA-AU 7 5786157 5786157 single base substitution G A intron_variant MELA-AU 7 5786253 5786253 single base substitution G A intron_variant MELA-AU 7 5786253 5786254 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 5786525 5786525 single base substitution G A intron_variant MELA-AU 7 5787031 5787031 single base substitution C T intron_variant MELA-AU 7 5787154 5787154 single base substitution A C intron_variant MELA-AU 7 5787229 5787229 single base substitution G A intron_variant MELA-AU 7 5787352 5787352 single base substitution G A intron_variant MELA-AU 7 5787624 5787624 single base substitution G A intron_variant MELA-AU 7 5789359 5789359 single base substitution G A intron_variant MELA-AU 7 5789575 5789575 single base substitution G A intron_variant MELA-AU 7 5789794 5789794 single base substitution G A intron_variant MELA-AU 7 5790190 5790190 single base substitution G A intron_variant MELA-AU 7 5790222 5790222 single base substitution G A intron_variant MELA-AU 7 5790469 5790469 single base substitution A G intron_variant MELA-AU 7 5791032 5791032 single base substitution G A intron_variant MELA-AU 7 5791053 5791053 single base substitution G A intron_variant MELA-AU 7 5791139 5791139 single base substitution A G intron_variant MELA-AU 7 5791447 5791447 single base substitution G A intron_variant MELA-AU 7 5792071 5792071 single base substitution C T intron_variant MELA-AU 7 5792075 5792075 insertion of <=200bp - TT intron_variant MELA-AU 7 5792599 5792599 single base substitution G A 3_prime_UTR_variant MELA-AU 7 5792599 5792599 single base substitution G A exon_variant MELA-AU 7 5792599 5792599 single base substitution G A missense_variant L27F 79C>T MELA-AU 7 5793418 5793418 single base substitution G A intron_variant MELA-AU 7 5793632 5793632 single base substitution T A intron_variant MELA-AU 7 5793680 5793680 single base substitution G A intron_variant MELA-AU 7 5794419 5794419 single base substitution G A intron_variant MELA-AU 7 5794685 5794686 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 5795569 5795569 single base substitution G A intron_variant MELA-AU 7 5795709 5795709 single base substitution C A downstream_gene_variant MELA-AU 7 5795709 5795709 single base substitution C A intron_variant MELA-AU 7 5795821 5795821 single base substitution C T downstream_gene_variant MELA-AU 7 5795821 5795821 single base substitution C T intron_variant MELA-AU 7 5797226 5797226 single base substitution G A downstream_gene_variant MELA-AU 7 5797226 5797226 single base substitution G A intron_variant MELA-AU 7 5797403 5797403 single base substitution T C downstream_gene_variant MELA-AU 7 5797403 5797403 single base substitution T C intron_variant MELA-AU 7 5797642 5797642 single base substitution T A downstream_gene_variant MELA-AU 7 5797642 5797642 single base substitution T A intron_variant MELA-AU 7 5797644 5797644 single base substitution A T downstream_gene_variant MELA-AU 7 5797644 5797644 single base substitution A T intron_variant MELA-AU 7 5797758 5797758 single base substitution G A downstream_gene_variant MELA-AU 7 5797758 5797758 single base substitution G A intron_variant MELA-AU 7 5799541 5799541 single base substitution A G downstream_gene_variant MELA-AU 7 5799541 5799541 single base substitution A G intron_variant MELA-AU 7 5800348 5800348 single base substitution A G downstream_gene_variant MELA-AU 7 5800348 5800348 single base substitution A G intron_variant MELA-AU 7 5800521 5800521 single base substitution G A downstream_gene_variant MELA-AU 7 5800521 5800521 single base substitution G A intron_variant MELA-AU 7 5801105 5801105 single base substitution G A intron_variant MELA-AU 7 5801105 5801105 single base substitution G A upstream_gene_variant MELA-AU 7 5801410 5801411 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 5801410 5801411 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 5801431 5801431 single base substitution G A intron_variant MELA-AU 7 5801431 5801431 single base substitution G A upstream_gene_variant MELA-AU 7 5801432 5801432 single base substitution G A intron_variant MELA-AU 7 5801432 5801432 single base substitution G A upstream_gene_variant MELA-AU 7 5801925 5801925 single base substitution G A intron_variant MELA-AU 7 5801925 5801925 single base substitution G A upstream_gene_variant MELA-AU 7 5802064 5802065 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 5802064 5802065 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 5802065 5802065 single base substitution G A intron_variant MELA-AU 7 5802065 5802065 single base substitution G A upstream_gene_variant MELA-AU 7 5802416 5802416 single base substitution G A intron_variant MELA-AU 7 5802416 5802416 single base substitution G A upstream_gene_variant MELA-AU 7 5802534 5802534 single base substitution G A intron_variant MELA-AU 7 5802534 5802534 single base substitution G A upstream_gene_variant MELA-AU 7 5802912 5802912 single base substitution C G intron_variant MELA-AU 7 5802912 5802912 single base substitution C G upstream_gene_variant MELA-AU 7 5803366 5803366 single base substitution G A intron_variant MELA-AU 7 5803366 5803366 single base substitution G A upstream_gene_variant MELA-AU 7 5803414 5803414 single base substitution G A intron_variant MELA-AU 7 5803414 5803414 single base substitution G A upstream_gene_variant MELA-AU 7 5804070 5804071 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 5804070 5804071 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 5804446 5804446 single base substitution C T intron_variant MELA-AU 7 5804446 5804446 single base substitution C T upstream_gene_variant MELA-AU 7 5804628 5804628 single base substitution G A intron_variant MELA-AU 7 5804628 5804628 single base substitution G A upstream_gene_variant MELA-AU 7 5804679 5804679 single base substitution G A intron_variant MELA-AU 7 5804679 5804679 single base substitution G A upstream_gene_variant MELA-AU 7 5804855 5804855 single base substitution G T intron_variant MELA-AU 7 5804855 5804855 single base substitution G T upstream_gene_variant MELA-AU 7 5805187 5805187 single base substitution G A intron_variant MELA-AU 7 5805187 5805187 single base substitution G A upstream_gene_variant MELA-AU 7 5805619 5805619 single base substitution T C intron_variant MELA-AU 7 5805619 5805619 single base substitution T C upstream_gene_variant MELA-AU 7 5805783 5805783 single base substitution G A intron_variant MELA-AU 7 5805897 5805897 single base substitution G A intron_variant MELA-AU 7 5806429 5806429 single base substitution G T intron_variant MELA-AU 7 5806567 5806567 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 7 5806567 5806567 single base substitution G A exon_variant MELA-AU 7 5806567 5806567 single base substitution G A intron_variant MELA-AU 7 5806610 5806610 single base substitution C A intron_variant MELA-AU 7 5807057 5807057 single base substitution C T intron_variant MELA-AU 7 5807174 5807174 single base substitution A G intron_variant MELA-AU 7 5807549 5807549 single base substitution T C intron_variant MELA-AU 7 5807965 5807965 single base substitution G A intron_variant MELA-AU 7 5807967 5807967 single base substitution G A intron_variant MELA-AU 7 5808629 5808629 single base substitution T A intron_variant MELA-AU 7 5808883 5808883 single base substitution G A intron_variant MELA-AU 7 5809331 5809331 single base substitution G A intron_variant MELA-AU 7 5809729 5809730 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 5810018 5810018 single base substitution G A intron_variant MELA-AU 7 5810431 5810431 single base substitution T C intron_variant MELA-AU 7 5810457 5810457 insertion of <=200bp - G intron_variant MELA-AU 7 5810793 5810793 single base substitution A C intron_variant MELA-AU 7 5811454 5811454 single base substitution G A intron_variant MELA-AU 7 5811739 5811739 single base substitution C T intron_variant MELA-AU 7 5812231 5812231 single base substitution G A intron_variant MELA-AU 7 5812602 5812602 single base substitution G A intron_variant MELA-AU 7 5814359 5814359 single base substitution G A intron_variant MELA-AU 7 5814949 5814949 single base substitution C T intron_variant MELA-AU 7 5815427 5815427 single base substitution G A intron_variant MELA-AU 7 5818338 5818338 single base substitution G A intron_variant MELA-AU 7 5819025 5819025 single base substitution C T intron_variant MELA-AU 7 5821279 5821279 single base substitution C T 5_prime_UTR_variant MELA-AU 7 5821279 5821279 single base substitution C T upstream_gene_variant MELA-AU 7 5821324 5821324 single base substitution C T 5_prime_UTR_variant MELA-AU 7 5821324 5821324 single base substitution C T upstream_gene_variant MELA-AU 7 5821363 5821363 single base substitution C T 5_prime_UTR_variant MELA-AU 7 5821363 5821363 single base substitution C T upstream_gene_variant MELA-AU 7 5821377 5821377 single base substitution G A upstream_gene_variant MELA-AU 7 5821434 5821434 single base substitution C T upstream_gene_variant MELA-AU 7 5821890 5821890 single base substitution G A upstream_gene_variant MELA-AU 7 5822123 5822123 single base substitution G A upstream_gene_variant MELA-AU 7 5822662 5822662 single base substitution C T upstream_gene_variant MELA-AU 7 5822896 5822896 single base substitution G A upstream_gene_variant MELA-AU 7 5823129 5823129 single base substitution G A upstream_gene_variant MELA-AU 7 5823246 5823246 single base substitution G A upstream_gene_variant MELA-AU 7 5823449 5823449 single base substitution G A upstream_gene_variant MELA-AU 7 5823919 5823919 insertion of <=200bp - AGGGCTAATT upstream_gene_variant MELA-AU 7 5824010 5824010 single base substitution C T upstream_gene_variant MELA-AU 7 5824418 5824418 single base substitution G A upstream_gene_variant MELA-AU 7 5824628 5824628 single base substitution G A upstream_gene_variant MELA-AU 7 5824753 5824753 single base substitution A G upstream_gene_variant MELA-AU 7 5825515 5825515 single base substitution C T upstream_gene_variant MELA-AU 7 5825626 5825626 single base substitution C T upstream_gene_variant MELA-AU 7 5825836 5825836 single base substitution C T upstream_gene_variant MELA-AU 7 5825872 5825872 single base substitution C A upstream_gene_variant MELA-AU 7 5826200 5826200 insertion of <=200bp - A upstream_gene_variant ORCA-IN 7 5656284 5656284 deletion of <=200bp G - downstream_gene_variant ORCA-IN 7 5658279 5658279 deletion of <=200bp T - downstream_gene_variant ORCA-IN 7 5658943 5658943 single base substitution G A downstream_gene_variant ORCA-IN 7 5686805 5686805 single base substitution C T intron_variant ORCA-IN 7 5689731 5689731 single base substitution C T intron_variant ORCA-IN 7 5689731 5689731 single base substitution C T upstream_gene_variant ORCA-IN 7 5689783 5689783 single base substitution C G intron_variant ORCA-IN 7 5689783 5689783 single base substitution C G upstream_gene_variant ORCA-IN 7 5754396 5754396 single base substitution C T intron_variant ORCA-IN 7 5754396 5754396 single base substitution C T upstream_gene_variant ORCA-IN 7 5757269 5757269 single base substitution A C intron_variant ORCA-IN 7 5757269 5757269 single base substitution A C upstream_gene_variant ORCA-IN 7 5767858 5767858 single base substitution T C downstream_gene_variant ORCA-IN 7 5767858 5767858 single base substitution T C intron_variant ORCA-IN 7 5771061 5771061 single base substitution A C intron_variant ORCA-IN 7 5781127 5781127 single base substitution G C downstream_gene_variant ORCA-IN 7 5781127 5781127 single base substitution G C exon_variant ORCA-IN 7 5781127 5781127 single base substitution G C stop_gained S117* 350C>G ORCA-IN 7 5781127 5781127 single base substitution G C stop_gained S174* 521C>G ORCA-IN 7 5781127 5781127 single base substitution G C upstream_gene_variant ORCA-IN 7 5788243 5788250 deletion of <=200bp ACACACAC - intron_variant ORCA-IN 7 5788250 5788250 single base substitution C T intron_variant ORCA-IN 7 5788254 5788254 single base substitution C T intron_variant ORCA-IN 7 5790482 5790482 single base substitution C T intron_variant ORCA-IN 7 5794897 5794897 single base substitution G C intron_variant ORCA-IN 7 5795176 5795176 single base substitution C G intron_variant ORCA-IN 7 5800643 5800643 single base substitution G A downstream_gene_variant ORCA-IN 7 5800643 5800643 single base substitution G A exon_variant ORCA-IN 7 5800643 5800643 single base substitution G A missense_variant R20W 58C>T ORCA-IN 7 5800643 5800643 single base substitution G A synonymous_variant ?20 ORCA-IN 7 5807977 5807977 single base substitution T C intron_variant OV-AU 7 5655382 5655382 single base substitution C T downstream_gene_variant OV-AU 7 5656325 5656325 single base substitution A G downstream_gene_variant OV-AU 7 5656933 5656933 single base substitution T C downstream_gene_variant OV-AU 7 5662258 5662258 single base substitution G C 3_prime_UTR_variant OV-AU 7 5662258 5662258 single base substitution G C downstream_gene_variant OV-AU 7 5680201 5680201 single base substitution A C downstream_gene_variant OV-AU 7 5680201 5680201 single base substitution A C intron_variant OV-AU 7 5682557 5682557 single base substitution C T intron_variant OV-AU 7 5691732 5691732 single base substitution C A intron_variant OV-AU 7 5691732 5691732 single base substitution C A upstream_gene_variant OV-AU 7 5692922 5692922 single base substitution A C intron_variant OV-AU 7 5692922 5692922 single base substitution A C upstream_gene_variant OV-AU 7 5701420 5701420 single base substitution T G intron_variant OV-AU 7 5702250 5702250 single base substitution C T intron_variant OV-AU 7 5707544 5707544 single base substitution A G intron_variant OV-AU 7 5708160 5708160 single base substitution C T intron_variant OV-AU 7 5715704 5715704 single base substitution G A intron_variant OV-AU 7 5716685 5716685 single base substitution G C intron_variant OV-AU 7 5719465 5719465 single base substitution C T intron_variant OV-AU 7 5719922 5719922 single base substitution C G intron_variant OV-AU 7 5729007 5729007 single base substitution A G intron_variant OV-AU 7 5738659 5738659 single base substitution T A intron_variant OV-AU 7 5738661 5738661 single base substitution T G intron_variant OV-AU 7 5747696 5747696 single base substitution G A intron_variant OV-AU 7 5761635 5761635 single base substitution C T intron_variant OV-AU 7 5762272 5762272 single base substitution C T intron_variant OV-AU 7 5768479 5768479 single base substitution C T downstream_gene_variant OV-AU 7 5768479 5768479 single base substitution C T intron_variant OV-AU 7 5768910 5768910 single base substitution G A downstream_gene_variant OV-AU 7 5768910 5768910 single base substitution G A intron_variant OV-AU 7 5772106 5772106 single base substitution T A intron_variant OV-AU 7 5781374 5781374 single base substitution C G intron_variant OV-AU 7 5781374 5781374 single base substitution C G missense_variant G92R 274G>C OV-AU 7 5781374 5781374 single base substitution C G upstream_gene_variant OV-AU 7 5791602 5791602 single base substitution A T intron_variant OV-AU 7 5800314 5800314 single base substitution G T downstream_gene_variant OV-AU 7 5800314 5800314 single base substitution G T intron_variant OV-AU 7 5803110 5803110 single base substitution A C intron_variant OV-AU 7 5803110 5803110 single base substitution A C upstream_gene_variant OV-AU 7 5814503 5814503 single base substitution C G intron_variant OV-AU 7 5818563 5818563 single base substitution C T intron_variant OV-US 7 5780945 5780945 single base substitution A C downstream_gene_variant OV-US 7 5780945 5780945 single base substitution A C exon_variant OV-US 7 5780945 5780945 single base substitution A C missense_variant F178V 532T>G OV-US 7 5780945 5780945 single base substitution A C missense_variant F235V 703T>G OV-US 7 5780945 5780945 single base substitution A C upstream_gene_variant PACA-AU 7 5656375 5656375 single base substitution C G downstream_gene_variant PACA-AU 7 5656759 5656759 single base substitution T C downstream_gene_variant PACA-AU 7 5658041 5658041 single base substitution G C downstream_gene_variant PACA-AU 7 5658156 5658156 single base substitution C A downstream_gene_variant PACA-AU 7 5659241 5659241 single base substitution C T downstream_gene_variant PACA-AU 7 5664956 5664956 single base substitution C G intron_variant PACA-AU 7 5666140 5666140 single base substitution G T intron_variant PACA-AU 7 5666719 5666719 single base substitution T C intron_variant PACA-AU 7 5667547 5667547 single base substitution C T intron_variant PACA-AU 7 5673392 5673392 single base substitution G A intron_variant PACA-AU 7 5673423 5673423 single base substitution C T intron_variant PACA-AU 7 5676294 5676294 single base substitution G T downstream_gene_variant PACA-AU 7 5676294 5676294 single base substitution G T intron_variant PACA-AU 7 5689227 5689227 single base substitution G T intron_variant PACA-AU 7 5692022 5692022 single base substitution C A intron_variant PACA-AU 7 5692022 5692022 single base substitution C A upstream_gene_variant PACA-AU 7 5696076 5696076 single base substitution C T intron_variant PACA-AU 7 5699711 5699711 single base substitution G A intron_variant PACA-AU 7 5700955 5700955 single base substitution T C intron_variant PACA-AU 7 5704395 5704395 single base substitution G A intron_variant PACA-AU 7 5706102 5706102 single base substitution G A intron_variant PACA-AU 7 5715706 5715706 single base substitution G A intron_variant PACA-AU 7 5718056 5718056 single base substitution C T intron_variant PACA-AU 7 5720336 5720336 single base substitution A C intron_variant PACA-AU 7 5721374 5721374 single base substitution G A intron_variant PACA-AU 7 5723478 5723478 single base substitution G C intron_variant PACA-AU 7 5726388 5726388 single base substitution G A intron_variant PACA-AU 7 5726770 5726770 single base substitution T C intron_variant PACA-AU 7 5741297 5741297 single base substitution A G intron_variant PACA-AU 7 5747817 5747817 single base substitution C T intron_variant PACA-AU 7 5750737 5750737 single base substitution C A intron_variant PACA-AU 7 5753099 5753099 single base substitution C A intron_variant PACA-AU 7 5753099 5753099 single base substitution C A upstream_gene_variant PACA-AU 7 5753712 5753712 insertion of <=200bp - T intron_variant PACA-AU 7 5753712 5753712 insertion of <=200bp - T upstream_gene_variant PACA-AU 7 5762438 5762438 single base substitution A G intron_variant PACA-AU 7 5767618 5767618 single base substitution T C downstream_gene_variant PACA-AU 7 5767618 5767618 single base substitution T C intron_variant PACA-AU 7 5771014 5771014 single base substitution G A intron_variant PACA-AU 7 5773775 5773775 single base substitution G T intron_variant PACA-AU 7 5778882 5778882 deletion of <=200bp A - downstream_gene_variant PACA-AU 7 5778882 5778882 deletion of <=200bp A - intron_variant PACA-AU 7 5782514 5782514 single base substitution A T intron_variant PACA-AU 7 5782514 5782514 single base substitution A T upstream_gene_variant PACA-AU 7 5783261 5783261 single base substitution C A intron_variant PACA-AU 7 5783261 5783261 single base substitution C A upstream_gene_variant PACA-AU 7 5792117 5792117 single base substitution G C intron_variant PACA-AU 7 5795109 5795109 single base substitution G A intron_variant PACA-AU 7 5805828 5805828 single base substitution G A intron_variant PACA-AU 7 5807930 5807930 single base substitution A G intron_variant PACA-AU 7 5814743 5814743 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 7 5814743 5814743 single base substitution T A intron_variant PACA-AU 7 5814744 5814744 single base substitution T A 5_prime_UTR_variant PACA-AU 7 5814744 5814744 single base substitution T A intron_variant PACA-AU 7 5817835 5817835 deletion of <=200bp C - intron_variant PACA-AU 7 5818405 5818405 single base substitution C T intron_variant PACA-AU 7 5822780 5822780 single base substitution G T upstream_gene_variant PACA-AU 7 5824896 5824896 single base substitution C G upstream_gene_variant PACA-CA 7 5654932 5654932 single base substitution A C downstream_gene_variant PACA-CA 7 5659181 5659181 single base substitution C G downstream_gene_variant PACA-CA 7 5660473 5660473 single base substitution G A 3_prime_UTR_variant PACA-CA 7 5660473 5660473 single base substitution G A downstream_gene_variant PACA-CA 7 5661767 5661767 single base substitution G A 3_prime_UTR_variant PACA-CA 7 5661767 5661767 single base substitution G A downstream_gene_variant PACA-CA 7 5664789 5664789 single base substitution T C intron_variant PACA-CA 7 5665950 5665950 single base substitution T A intron_variant PACA-CA 7 5666828 5666828 single base substitution G A intron_variant PACA-CA 7 5666830 5666830 single base substitution G A intron_variant PACA-CA 7 5667317 5667317 single base substitution G T intron_variant PACA-CA 7 5674965 5674965 single base substitution G T intron_variant PACA-CA 7 5675151 5675151 single base substitution C T intron_variant PACA-CA 7 5675416 5675416 single base substitution T G intron_variant PACA-CA 7 5679413 5679413 single base substitution C T downstream_gene_variant PACA-CA 7 5679413 5679413 single base substitution C T intron_variant PACA-CA 7 5682367 5682367 single base substitution C T intron_variant PACA-CA 7 5687537 5687537 single base substitution C A intron_variant PACA-CA 7 5694478 5694478 single base substitution T A intron_variant PACA-CA 7 5694478 5694478 single base substitution T A upstream_gene_variant PACA-CA 7 5695128 5695128 single base substitution C A intron_variant PACA-CA 7 5698229 5698229 single base substitution A G intron_variant PACA-CA 7 5698306 5698306 single base substitution A T intron_variant PACA-CA 7 5707179 5707179 single base substitution C T intron_variant PACA-CA 7 5711701 5711701 single base substitution G A intron_variant PACA-CA 7 5713053 5713053 single base substitution C T intron_variant PACA-CA 7 5717719 5717719 single base substitution C A intron_variant PACA-CA 7 5718262 5718262 single base substitution C T intron_variant PACA-CA 7 5719947 5719947 single base substitution T C intron_variant PACA-CA 7 5722628 5722628 single base substitution C T intron_variant PACA-CA 7 5728762 5728762 single base substitution T C intron_variant PACA-CA 7 5731718 5731718 single base substitution A G intron_variant PACA-CA 7 5733472 5733472 single base substitution C G intron_variant PACA-CA 7 5736227 5736227 single base substitution C T intron_variant PACA-CA 7 5746638 5746638 single base substitution T C intron_variant PACA-CA 7 5746659 5746659 single base substitution G C intron_variant PACA-CA 7 5746669 5746669 single base substitution T C intron_variant PACA-CA 7 5748996 5748996 single base substitution G A intron_variant PACA-CA 7 5749698 5749698 single base substitution A C intron_variant PACA-CA 7 5752326 5752326 single base substitution C T intron_variant PACA-CA 7 5755691 5755691 single base substitution T C intron_variant PACA-CA 7 5755691 5755691 single base substitution T C upstream_gene_variant PACA-CA 7 5757034 5757034 single base substitution G A intron_variant PACA-CA 7 5757034 5757034 single base substitution G A upstream_gene_variant PACA-CA 7 5758313 5758313 single base substitution C T intron_variant PACA-CA 7 5763286 5763286 single base substitution A T intron_variant PACA-CA 7 5766814 5766814 single base substitution C T downstream_gene_variant PACA-CA 7 5766814 5766814 single base substitution C T intron_variant PACA-CA 7 5767618 5767618 single base substitution T C downstream_gene_variant PACA-CA 7 5767618 5767618 single base substitution T C intron_variant PACA-CA 7 5769643 5769643 single base substitution G A intron_variant PACA-CA 7 5775374 5775374 single base substitution T C intron_variant PACA-CA 7 5777060 5777060 single base substitution T C downstream_gene_variant PACA-CA 7 5777060 5777060 single base substitution T C intron_variant PACA-CA 7 5778416 5778416 single base substitution C T downstream_gene_variant PACA-CA 7 5778416 5778416 single base substitution C T intron_variant PACA-CA 7 5782744 5782744 single base substitution C G intron_variant PACA-CA 7 5782744 5782744 single base substitution C G upstream_gene_variant PACA-CA 7 5784601 5784601 single base substitution C A intron_variant PACA-CA 7 5788082 5788082 single base substitution G A intron_variant PACA-CA 7 5789891 5789891 single base substitution T C intron_variant PACA-CA 7 5791686 5791686 single base substitution G A intron_variant PACA-CA 7 5791689 5791689 single base substitution G A intron_variant PACA-CA 7 5797712 5797712 single base substitution A G downstream_gene_variant PACA-CA 7 5797712 5797712 single base substitution A G intron_variant PACA-CA 7 5800153 5800153 single base substitution G A downstream_gene_variant PACA-CA 7 5800153 5800153 single base substitution G A intron_variant PACA-CA 7 5800185 5800185 deletion of <=200bp A - downstream_gene_variant PACA-CA 7 5800185 5800185 deletion of <=200bp A - intron_variant PACA-CA 7 5806917 5806917 single base substitution T G intron_variant PACA-CA 7 5808066 5808066 insertion of <=200bp - ATA intron_variant PACA-CA 7 5810616 5810616 single base substitution G T intron_variant PACA-CA 7 5813637 5813637 single base substitution G T intron_variant PACA-CA 7 5816070 5816070 deletion of <=200bp A - intron_variant PACA-CA 7 5816341 5816341 single base substitution A C intron_variant PACA-CA 7 5817983 5817983 single base substitution C T intron_variant PACA-CA 7 5819911 5819911 single base substitution G C exon_variant PACA-CA 7 5819911 5819911 single base substitution G C intron_variant PACA-CA 7 5820215 5820215 single base substitution C T intron_variant PACA-CA 7 5820215 5820215 single base substitution C T upstream_gene_variant PACA-CA 7 5820220 5820220 single base substitution G A intron_variant PACA-CA 7 5820220 5820220 single base substitution G A upstream_gene_variant PAEN-AU 7 5672524 5672524 single base substitution G C intron_variant PAEN-AU 7 5705889 5705889 single base substitution A T intron_variant PAEN-AU 7 5755147 5755147 single base substitution T G intron_variant PAEN-AU 7 5755147 5755147 single base substitution T G upstream_gene_variant PAEN-AU 7 5770725 5770725 single base substitution A T intron_variant PAEN-AU 7 5800842 5800842 single base substitution A G intron_variant PAEN-AU 7 5800842 5800842 single base substitution A G upstream_gene_variant PAEN-AU 7 5807080 5807080 single base substitution A T intron_variant PAEN-IT 7 5656738 5656738 single base substitution G A downstream_gene_variant PAEN-IT 7 5658433 5658433 single base substitution C T downstream_gene_variant PAEN-IT 7 5720517 5720517 single base substitution G A intron_variant PAEN-IT 7 5788033 5788033 single base substitution G A intron_variant PAEN-IT 7 5825930 5825930 single base substitution C A upstream_gene_variant PBCA-DE 7 5657341 5657341 insertion of <=200bp - T downstream_gene_variant PBCA-DE 7 5660634 5660634 single base substitution A T 3_prime_UTR_variant PBCA-DE 7 5660634 5660634 single base substitution A T downstream_gene_variant PBCA-DE 7 5662874 5662874 single base substitution G A intron_variant PBCA-DE 7 5664599 5664599 single base substitution C T intron_variant PBCA-DE 7 5665173 5665173 single base substitution G A intron_variant PBCA-DE 7 5674377 5674377 single base substitution A T intron_variant PBCA-DE 7 5705904 5705904 single base substitution C A intron_variant PBCA-DE 7 5712210 5712210 single base substitution A G intron_variant PBCA-DE 7 5715351 5715351 single base substitution T C intron_variant PBCA-DE 7 5717117 5717117 single base substitution C A intron_variant PBCA-DE 7 5737815 5737815 single base substitution C G intron_variant PBCA-DE 7 5738509 5738509 single base substitution A T intron_variant PBCA-DE 7 5745318 5745318 single base substitution T C intron_variant PBCA-DE 7 5752158 5752158 deletion of <=200bp T - intron_variant PBCA-DE 7 5754320 5754320 deletion of <=200bp A - intron_variant PBCA-DE 7 5754320 5754320 deletion of <=200bp A - upstream_gene_variant PBCA-DE 7 5758178 5758178 single base substitution A C intron_variant PBCA-DE 7 5762569 5762569 single base substitution C T intron_variant PBCA-DE 7 5770145 5770148 deletion of <=200bp AGAC - intron_variant PBCA-DE 7 5770330 5770330 single base substitution T C intron_variant PBCA-DE 7 5780856 5780856 single base substitution C T downstream_gene_variant PBCA-DE 7 5780856 5780856 single base substitution C T exon_variant PBCA-DE 7 5780856 5780856 single base substitution C T synonymous_variant L207L 621G>A PBCA-DE 7 5780856 5780856 single base substitution C T synonymous_variant L264L 792G>A PBCA-DE 7 5780856 5780856 single base substitution C T upstream_gene_variant PBCA-DE 7 5785720 5785720 single base substitution A G intron_variant PBCA-DE 7 5799699 5799699 single base substitution T C downstream_gene_variant PBCA-DE 7 5799699 5799699 single base substitution T C intron_variant PBCA-DE 7 5803069 5803069 single base substitution C T intron_variant PBCA-DE 7 5803069 5803069 single base substitution C T upstream_gene_variant PBCA-DE 7 5816758 5816758 single base substitution C G intron_variant PRAD-CA 7 5687240 5687240 single base substitution C T intron_variant PRAD-CA 7 5708808 5708808 single base substitution G A intron_variant PRAD-CA 7 5726388 5726388 single base substitution G A intron_variant PRAD-CA 7 5748781 5748781 single base substitution G C intron_variant PRAD-CA 7 5751062 5751062 single base substitution A T intron_variant PRAD-CA 7 5762012 5762012 single base substitution G T intron_variant PRAD-CA 7 5766227 5766227 single base substitution G A downstream_gene_variant PRAD-CA 7 5766227 5766227 single base substitution G A intron_variant PRAD-CA 7 5770276 5770276 single base substitution C A intron_variant PRAD-CA 7 5800951 5800951 single base substitution T G intron_variant PRAD-CA 7 5800951 5800951 single base substitution T G upstream_gene_variant PRAD-CA 7 5803932 5803932 single base substitution C T intron_variant PRAD-CA 7 5803932 5803932 single base substitution C T upstream_gene_variant PRAD-CA 7 5822634 5822634 single base substitution G A upstream_gene_variant PRAD-UK 7 5683357 5683357 single base substitution C G intron_variant PRAD-UK 7 5714606 5714606 single base substitution C T intron_variant PRAD-UK 7 5736407 5736407 single base substitution G A intron_variant PRAD-UK 7 5739230 5739230 single base substitution T G intron_variant PRAD-UK 7 5748348 5748348 single base substitution C T intron_variant PRAD-UK 7 5750361 5750361 single base substitution C T intron_variant PRAD-UK 7 5758456 5758456 single base substitution G A intron_variant PRAD-UK 7 5758470 5758470 single base substitution G A intron_variant PRAD-UK 7 5760817 5760817 single base substitution G C intron_variant PRAD-UK 7 5769758 5769758 single base substitution G C intron_variant PRAD-UK 7 5781577 5781577 single base substitution T C intron_variant PRAD-UK 7 5781577 5781577 single base substitution T C upstream_gene_variant PRAD-UK 7 5782961 5782961 single base substitution A G intron_variant PRAD-UK 7 5782961 5782961 single base substitution A G upstream_gene_variant PRAD-UK 7 5808688 5808688 single base substitution T C intron_variant PRAD-UK 7 5817894 5817894 single base substitution T C intron_variant PRAD-UK 7 5821118 5821118 single base substitution G A intron_variant PRAD-UK 7 5821118 5821118 single base substitution G A upstream_gene_variant PRAD-US 7 5662502 5662502 single base substitution G A 3_prime_UTR_variant PRAD-US 7 5662502 5662502 single base substitution G A downstream_gene_variant PRAD-US 7 5662502 5662502 single base substitution G A missense_variant H864Y 2590C>T PRAD-US 7 5662502 5662502 single base substitution G A missense_variant H921Y 2761C>T PRAD-US 7 5780784 5780784 single base substitution A C downstream_gene_variant PRAD-US 7 5780784 5780784 single base substitution A C exon_variant PRAD-US 7 5780784 5780784 single base substitution A C synonymous_variant S231S 693T>G PRAD-US 7 5780784 5780784 single base substitution A C synonymous_variant S288S 864T>G PRAD-US 7 5780784 5780784 single base substitution A C upstream_gene_variant READ-US 7 5770435 5770435 single base substitution G T 3_prime_UTR_variant READ-US 7 5770435 5770435 single base substitution G T exon_variant READ-US 7 5770435 5770435 single base substitution G T missense_variant L322I 964C>A READ-US 7 5770435 5770435 single base substitution G T missense_variant L379I 1135C>A READ-US 7 5792596 5792596 single base substitution G A 3_prime_UTR_variant READ-US 7 5792596 5792596 single base substitution G A exon_variant READ-US 7 5792596 5792596 single base substitution G A stop_gained R28* 82C>T RECA-EU 7 5658147 5658147 single base substitution C A downstream_gene_variant RECA-EU 7 5664885 5664885 single base substitution G A intron_variant RECA-EU 7 5704212 5704212 single base substitution G A intron_variant RECA-EU 7 5706000 5706000 single base substitution G A intron_variant RECA-EU 7 5711782 5711782 single base substitution C A intron_variant RECA-EU 7 5715039 5715039 single base substitution C T intron_variant RECA-EU 7 5715135 5715135 single base substitution T A intron_variant RECA-EU 7 5718298 5718298 single base substitution T A intron_variant RECA-EU 7 5729877 5729877 single base substitution G T intron_variant RECA-EU 7 5733296 5733296 single base substitution G C intron_variant RECA-EU 7 5744304 5744304 single base substitution C T intron_variant RECA-EU 7 5744305 5744305 single base substitution A G intron_variant RECA-EU 7 5755492 5755492 single base substitution C G intron_variant RECA-EU 7 5755492 5755492 single base substitution C G upstream_gene_variant RECA-EU 7 5756764 5756764 single base substitution C T intron_variant RECA-EU 7 5756764 5756764 single base substitution C T upstream_gene_variant RECA-EU 7 5760104 5760104 single base substitution T A intron_variant RECA-EU 7 5763300 5763300 single base substitution A G intron_variant RECA-EU 7 5766972 5766972 single base substitution T A downstream_gene_variant RECA-EU 7 5766972 5766972 single base substitution T A intron_variant RECA-EU 7 5775062 5775062 single base substitution G T intron_variant RECA-EU 7 5793502 5793502 single base substitution T A intron_variant RECA-EU 7 5799267 5799267 single base substitution T C downstream_gene_variant RECA-EU 7 5799267 5799267 single base substitution T C intron_variant RECA-EU 7 5800337 5800337 single base substitution C G downstream_gene_variant RECA-EU 7 5800337 5800337 single base substitution C G intron_variant RECA-EU 7 5816978 5816978 single base substitution G T intron_variant RECA-EU 7 5818990 5818990 single base substitution A T intron_variant SKCA-BR 7 5656266 5656267 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 7 5660128 5660128 single base substitution C T 3_prime_UTR_variant SKCA-BR 7 5660128 5660128 single base substitution C T downstream_gene_variant SKCA-BR 7 5661213 5661213 single base substitution C A 3_prime_UTR_variant SKCA-BR 7 5661213 5661213 single base substitution C A downstream_gene_variant SKCA-BR 7 5661521 5661521 single base substitution G A 3_prime_UTR_variant SKCA-BR 7 5661521 5661521 single base substitution G A downstream_gene_variant SKCA-BR 7 5661873 5661873 single base substitution A C 3_prime_UTR_variant SKCA-BR 7 5661873 5661873 single base substitution A C downstream_gene_variant SKCA-BR 7 5662720 5662720 single base substitution T G 3_prime_UTR_variant SKCA-BR 7 5662720 5662720 single base substitution T G exon_variant SKCA-BR 7 5662720 5662720 single base substitution T G missense_variant N791T 2372A>C SKCA-BR 7 5662720 5662720 single base substitution T G missense_variant N848T 2543A>C SKCA-BR 7 5667226 5667226 single base substitution A C intron_variant SKCA-BR 7 5667658 5667658 single base substitution T G intron_variant SKCA-BR 7 5668825 5668826 deletion of <=200bp CA - intron_variant SKCA-BR 7 5671280 5671280 single base substitution G A intron_variant SKCA-BR 7 5677247 5677247 single base substitution G A downstream_gene_variant SKCA-BR 7 5677247 5677247 single base substitution G A intron_variant SKCA-BR 7 5679334 5679334 single base substitution A C downstream_gene_variant SKCA-BR 7 5679334 5679334 single base substitution A C intron_variant SKCA-BR 7 5679607 5679607 single base substitution G A downstream_gene_variant SKCA-BR 7 5679607 5679607 single base substitution G A intron_variant SKCA-BR 7 5681676 5681677 deletion of <=200bp AG - intron_variant SKCA-BR 7 5684488 5684488 single base substitution C T intron_variant SKCA-BR 7 5685100 5685100 single base substitution A C intron_variant SKCA-BR 7 5686958 5686959 deletion of <=200bp TC - intron_variant SKCA-BR 7 5688999 5688999 single base substitution G A intron_variant SKCA-BR 7 5692477 5692477 single base substitution G A intron_variant SKCA-BR 7 5692477 5692477 single base substitution G A upstream_gene_variant SKCA-BR 7 5692592 5692592 single base substitution G A intron_variant SKCA-BR 7 5692592 5692592 single base substitution G A upstream_gene_variant SKCA-BR 7 5692593 5692593 single base substitution G T intron_variant SKCA-BR 7 5692593 5692593 single base substitution G T upstream_gene_variant SKCA-BR 7 5694657 5694657 single base substitution G A intron_variant SKCA-BR 7 5694944 5694944 single base substitution G A intron_variant SKCA-BR 7 5697505 5697505 single base substitution A G intron_variant SKCA-BR 7 5697802 5697802 single base substitution C T intron_variant SKCA-BR 7 5704475 5704475 single base substitution G A intron_variant SKCA-BR 7 5704699 5704699 single base substitution G A intron_variant SKCA-BR 7 5704995 5704995 single base substitution G A intron_variant SKCA-BR 7 5706247 5706247 single base substitution G A intron_variant SKCA-BR 7 5706445 5706445 insertion of <=200bp - CT intron_variant SKCA-BR 7 5709657 5709657 single base substitution G A intron_variant SKCA-BR 7 5710443 5710443 single base substitution G A intron_variant SKCA-BR 7 5712419 5712419 single base substitution G A intron_variant SKCA-BR 7 5716732 5716732 single base substitution C T intron_variant SKCA-BR 7 5729522 5729522 single base substitution A G intron_variant SKCA-BR 7 5729958 5729958 insertion of <=200bp - CA intron_variant SKCA-BR 7 5734793 5734793 single base substitution T A intron_variant SKCA-BR 7 5738523 5738523 single base substitution T A intron_variant SKCA-BR 7 5739390 5739390 single base substitution T G intron_variant SKCA-BR 7 5741164 5741164 single base substitution G A intron_variant SKCA-BR 7 5741929 5741929 single base substitution T G intron_variant SKCA-BR 7 5743230 5743230 single base substitution G A intron_variant SKCA-BR 7 5743324 5743324 single base substitution A G intron_variant SKCA-BR 7 5745099 5745099 single base substitution G A intron_variant SKCA-BR 7 5750476 5750476 single base substitution G A intron_variant SKCA-BR 7 5752307 5752307 single base substitution G A intron_variant SKCA-BR 7 5757727 5757727 single base substitution G A intron_variant SKCA-BR 7 5757727 5757727 single base substitution G A upstream_gene_variant SKCA-BR 7 5757895 5757895 single base substitution C G intron_variant SKCA-BR 7 5757895 5757895 single base substitution C G upstream_gene_variant SKCA-BR 7 5760482 5760482 single base substitution G A intron_variant SKCA-BR 7 5761191 5761191 single base substitution C G intron_variant SKCA-BR 7 5762009 5762012 deletion of <=200bp TTTG - intron_variant SKCA-BR 7 5763277 5763277 insertion of <=200bp - CA intron_variant SKCA-BR 7 5763429 5763429 single base substitution G A intron_variant SKCA-BR 7 5765655 5765655 single base substitution C T downstream_gene_variant SKCA-BR 7 5765655 5765655 single base substitution C T intron_variant SKCA-BR 7 5767832 5767832 single base substitution C T downstream_gene_variant SKCA-BR 7 5767832 5767832 single base substitution C T intron_variant SKCA-BR 7 5768068 5768068 single base substitution G A downstream_gene_variant SKCA-BR 7 5768068 5768068 single base substitution G A intron_variant SKCA-BR 7 5768725 5768725 single base substitution G A downstream_gene_variant SKCA-BR 7 5768725 5768725 single base substitution G A intron_variant SKCA-BR 7 5768726 5768726 single base substitution G A downstream_gene_variant SKCA-BR 7 5768726 5768726 single base substitution G A intron_variant SKCA-BR 7 5769489 5769489 single base substitution T C intron_variant SKCA-BR 7 5770273 5770273 insertion of <=200bp - TAAC intron_variant SKCA-BR 7 5770602 5770602 single base substitution C A intron_variant SKCA-BR 7 5772259 5772259 single base substitution C A intron_variant SKCA-BR 7 5774381 5774381 single base substitution G T intron_variant SKCA-BR 7 5776558 5776558 single base substitution C G downstream_gene_variant SKCA-BR 7 5776558 5776558 single base substitution C G intron_variant SKCA-BR 7 5784092 5784092 single base substitution G A intron_variant SKCA-BR 7 5784092 5784092 single base substitution G A upstream_gene_variant SKCA-BR 7 5784105 5784105 single base substitution G A intron_variant SKCA-BR 7 5784105 5784105 single base substitution G A upstream_gene_variant SKCA-BR 7 5785524 5785524 insertion of <=200bp - TAA intron_variant SKCA-BR 7 5786133 5786133 single base substitution G A intron_variant SKCA-BR 7 5786923 5786923 single base substitution A G intron_variant SKCA-BR 7 5787403 5787407 deletion of <=200bp AAAAG - intron_variant SKCA-BR 7 5787410 5787410 single base substitution G A intron_variant SKCA-BR 7 5794044 5794044 single base substitution C T intron_variant SKCA-BR 7 5799264 5799264 insertion of <=200bp - CTTCTTTT downstream_gene_variant SKCA-BR 7 5799264 5799264 insertion of <=200bp - CTTCTTTT intron_variant SKCA-BR 7 5799267 5799267 single base substitution T C downstream_gene_variant SKCA-BR 7 5799267 5799267 single base substitution T C intron_variant SKCA-BR 7 5801515 5801515 single base substitution G A intron_variant SKCA-BR 7 5801515 5801515 single base substitution G A upstream_gene_variant SKCA-BR 7 5804334 5804334 single base substitution G T intron_variant SKCA-BR 7 5804334 5804334 single base substitution G T upstream_gene_variant SKCA-BR 7 5804699 5804699 insertion of <=200bp - TA intron_variant SKCA-BR 7 5804699 5804699 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 7 5805248 5805248 single base substitution G A intron_variant SKCA-BR 7 5805248 5805248 single base substitution G A upstream_gene_variant SKCA-BR 7 5805583 5805583 insertion of <=200bp - CAA intron_variant SKCA-BR 7 5805583 5805583 insertion of <=200bp - CAA upstream_gene_variant SKCA-BR 7 5807893 5807893 single base substitution G A intron_variant SKCA-BR 7 5810862 5810862 single base substitution A G intron_variant SKCA-BR 7 5811843 5811843 single base substitution A T intron_variant SKCA-BR 7 5813480 5813480 single base substitution G A intron_variant SKCA-BR 7 5816530 5816531 deletion of <=200bp CA - intron_variant SKCA-BR 7 5819287 5819288 deletion of <=200bp TA - intron_variant SKCA-BR 7 5819398 5819398 single base substitution T G intron_variant SKCA-BR 7 5819438 5819438 single base substitution A C intron_variant SKCA-BR 7 5821569 5821575 deletion of <=200bp CTCGATA - upstream_gene_variant SKCA-BR 7 5822478 5822478 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 7 5822932 5822932 single base substitution C T upstream_gene_variant SKCA-BR 7 5823615 5823615 single base substitution C T upstream_gene_variant SKCA-BR 7 5826158 5826158 single base substitution T C upstream_gene_variant SKCM-US 7 5662592 5662592 single base substitution G A 3_prime_UTR_variant SKCM-US 7 5662592 5662592 single base substitution G A exon_variant SKCM-US 7 5662592 5662592 single base substitution G A synonymous_variant L834L 2500C>T SKCM-US 7 5662592 5662592 single base substitution G A synonymous_variant L891L 2671C>T SKCM-US 7 5662644 5662644 single base substitution G A 3_prime_UTR_variant SKCM-US 7 5662644 5662644 single base substitution G A exon_variant SKCM-US 7 5662644 5662644 single base substitution G A synonymous_variant F816F 2448C>T SKCM-US 7 5662644 5662644 single base substitution G A synonymous_variant F873F 2619C>T SKCM-US 7 5662660 5662660 single base substitution G A 3_prime_UTR_variant SKCM-US 7 5662660 5662660 single base substitution G A exon_variant SKCM-US 7 5662660 5662660 single base substitution G A missense_variant P811L 2432C>T SKCM-US 7 5662660 5662660 single base substitution G A missense_variant P868L 2603C>T SKCM-US 7 5662690 5662690 single base substitution G A 3_prime_UTR_variant SKCM-US 7 5662690 5662690 single base substitution G A exon_variant SKCM-US 7 5662690 5662690 single base substitution G A missense_variant A801V 2402C>T SKCM-US 7 5662690 5662690 single base substitution G A missense_variant A858V 2573C>T SKCM-US 7 5662697 5662697 single base substitution G A 3_prime_UTR_variant SKCM-US 7 5662697 5662697 single base substitution G A exon_variant SKCM-US 7 5662697 5662697 single base substitution G A missense_variant P799S 2395C>T SKCM-US 7 5662697 5662697 single base substitution G A missense_variant P856S 2566C>T SKCM-US 7 5680976 5680976 single base substitution T A 3_prime_UTR_variant SKCM-US 7 5680976 5680976 single base substitution T A downstream_gene_variant SKCM-US 7 5680976 5680976 single base substitution T A exon_variant SKCM-US 7 5680976 5680976 single base substitution T A stop_gained K674* 2020A>T SKCM-US 7 5680976 5680976 single base substitution T A stop_gained K731* 2191A>T SKCM-US 7 5754796 5754796 single base substitution C T 3_prime_UTR_variant SKCM-US 7 5754796 5754796 single base substitution C T missense_variant C517Y 1550G>A SKCM-US 7 5754796 5754796 single base substitution C T missense_variant C574Y 1721G>A SKCM-US 7 5754796 5754796 single base substitution C T upstream_gene_variant SKCM-US 7 5764962 5764962 single base substitution A T 3_prime_UTR_variant SKCM-US 7 5764962 5764962 single base substitution A T downstream_gene_variant SKCM-US 7 5764962 5764962 single base substitution A T missense_variant F442L 1326T>A SKCM-US 7 5764962 5764962 single base substitution A T missense_variant F499L 1497T>A SKCM-US 7 5769131 5769131 single base substitution C T 3_prime_UTR_variant SKCM-US 7 5769131 5769131 single base substitution C T downstream_gene_variant SKCM-US 7 5769131 5769131 single base substitution C T missense_variant V384M 1150G>A SKCM-US 7 5769131 5769131 single base substitution C T missense_variant V441M 1321G>A SKCM-US 7 5780684 5780684 single base substitution C T downstream_gene_variant SKCM-US 7 5780684 5780684 single base substitution C T exon_variant SKCM-US 7 5780684 5780684 single base substitution C T missense_variant E265K 793G>A SKCM-US 7 5780684 5780684 single base substitution C T missense_variant E322K 964G>A SKCM-US 7 5780684 5780684 single base substitution C T upstream_gene_variant SKCM-US 7 5780816 5780816 single base substitution C T downstream_gene_variant SKCM-US 7 5780816 5780816 single base substitution C T exon_variant SKCM-US 7 5780816 5780816 single base substitution C T missense_variant E221K 661G>A SKCM-US 7 5780816 5780816 single base substitution C T missense_variant E278K 832G>A SKCM-US 7 5780816 5780816 single base substitution C T upstream_gene_variant SKCM-US 7 5800642 5800642 single base substitution C T downstream_gene_variant SKCM-US 7 5800642 5800642 single base substitution C T exon_variant SKCM-US 7 5800642 5800642 single base substitution C T missense_variant R20Q 59G>A SKCM-US 7 5800642 5800642 single base substitution C T synonymous_variant ?20 STAD-US 7 5662491 5662491 single base substitution T C 3_prime_UTR_variant STAD-US 7 5662491 5662491 single base substitution T C downstream_gene_variant STAD-US 7 5662491 5662491 single base substitution T C stop_lost *867W 2601A>G STAD-US 7 5662491 5662491 single base substitution T C stop_lost *924W 2772A>G STAD-US 7 5662498 5662498 single base substitution C T 3_prime_UTR_variant STAD-US 7 5662498 5662498 single base substitution C T downstream_gene_variant STAD-US 7 5662498 5662498 single base substitution C T missense_variant R865H 2594G>A STAD-US 7 5662498 5662498 single base substitution C T missense_variant R922H 2765G>A STAD-US 7 5662563 5662563 single base substitution G A 3_prime_UTR_variant STAD-US 7 5662563 5662563 single base substitution G A exon_variant STAD-US 7 5662563 5662563 single base substitution G A synonymous_variant F843F 2529C>T STAD-US 7 5662563 5662563 single base substitution G A synonymous_variant F900F 2700C>T STAD-US 7 5662686 5662686 single base substitution G A 3_prime_UTR_variant STAD-US 7 5662686 5662686 single base substitution G A exon_variant STAD-US 7 5662686 5662686 single base substitution G A synonymous_variant F802F 2406C>T STAD-US 7 5662686 5662686 single base substitution G A synonymous_variant F859F 2577C>T STAD-US 7 5692060 5692060 single base substitution T C 3_prime_UTR_variant STAD-US 7 5692060 5692060 single base substitution T C exon_variant STAD-US 7 5692060 5692060 single base substitution T C missense_variant K658E 1972A>G STAD-US 7 5692060 5692060 single base substitution T C missense_variant K715E 2143A>G STAD-US 7 5692060 5692060 single base substitution T C upstream_gene_variant STAD-US 7 5751450 5751450 single base substitution G A 3_prime_UTR_variant STAD-US 7 5751450 5751450 single base substitution G A exon_variant STAD-US 7 5751450 5751450 single base substitution G A missense_variant P611L 1832C>T STAD-US 7 5751450 5751450 single base substitution G A missense_variant P668L 2003C>T STAD-US 7 5752387 5752387 single base substitution G A 3_prime_UTR_variant STAD-US 7 5752387 5752387 single base substitution G A exon_variant STAD-US 7 5752387 5752387 single base substitution G A synonymous_variant A590A 1770C>T STAD-US 7 5752387 5752387 single base substitution G A synonymous_variant A647A 1941C>T STAD-US 7 5765046 5765046 deletion of <=200bp T - 3_prime_UTR_variant STAD-US 7 5765046 5765046 deletion of <=200bp T - downstream_gene_variant STAD-US 7 5765046 5765046 deletion of <=200bp T - frameshift_variant K414 STAD-US 7 5765046 5765046 deletion of <=200bp T - frameshift_variant K471 STAD-US 7 5769126 5769126 single base substitution G A 3_prime_UTR_variant STAD-US 7 5769126 5769126 single base substitution G A downstream_gene_variant STAD-US 7 5769126 5769126 single base substitution G A synonymous_variant L385L 1155C>T STAD-US 7 5769126 5769126 single base substitution G A synonymous_variant L442L 1326C>T STAD-US 7 5780605 5780605 single base substitution G A downstream_gene_variant STAD-US 7 5780605 5780605 single base substitution G A missense_variant T291M 872C>T STAD-US 7 5780605 5780605 single base substitution G A missense_variant T348M 1043C>T STAD-US 7 5780605 5780605 single base substitution G A splice_region_variant STAD-US 7 5780605 5780605 single base substitution G A upstream_gene_variant STAD-US 7 5780920 5780920 single base substitution C T downstream_gene_variant STAD-US 7 5780920 5780920 single base substitution C T exon_variant STAD-US 7 5780920 5780920 single base substitution C T missense_variant R186H 557G>A STAD-US 7 5780920 5780920 single base substitution C T missense_variant R243H 728G>A STAD-US 7 5780920 5780920 single base substitution C T upstream_gene_variant STAD-US 7 5781027 5781027 single base substitution C A downstream_gene_variant STAD-US 7 5781027 5781027 single base substitution C A exon_variant STAD-US 7 5781027 5781027 single base substitution C A missense_variant E150D 450G>T STAD-US 7 5781027 5781027 single base substitution C A missense_variant E207D 621G>T STAD-US 7 5781027 5781027 single base substitution C A upstream_gene_variant STAD-US 7 5781105 5781105 single base substitution C A downstream_gene_variant STAD-US 7 5781105 5781105 single base substitution C A exon_variant STAD-US 7 5781105 5781105 single base substitution C A missense_variant L124F 372G>T STAD-US 7 5781105 5781105 single base substitution C A missense_variant L181F 543G>T STAD-US 7 5781105 5781105 single base substitution C A upstream_gene_variant STAD-US 7 5781254 5781254 single base substitution C T 3_prime_UTR_variant STAD-US 7 5781254 5781254 single base substitution C T exon_variant STAD-US 7 5781254 5781254 single base substitution C T missense_variant G132S 394G>A STAD-US 7 5781254 5781254 single base substitution C T missense_variant G75S 223G>A STAD-US 7 5781254 5781254 single base substitution C T upstream_gene_variant STAD-US 7 5792512 5792512 single base substitution C T 3_prime_UTR_variant STAD-US 7 5792512 5792512 single base substitution C T exon_variant STAD-US 7 5792512 5792512 single base substitution C T missense_variant E56K 166G>A STAD-US 7 5792588 5792588 single base substitution C T 3_prime_UTR_variant STAD-US 7 5792588 5792588 single base substitution C T exon_variant STAD-US 7 5792588 5792588 single base substitution C T synonymous_variant G30G 90G>A THCA-US 7 5662664 5662664 single base substitution G T 3_prime_UTR_variant THCA-US 7 5662664 5662664 single base substitution G T exon_variant THCA-US 7 5662664 5662664 single base substitution G T missense_variant P810T 2428C>A THCA-US 7 5662664 5662664 single base substitution G T missense_variant P867T 2599C>A UCEC-US 7 5662498 5662498 single base substitution C T 3_prime_UTR_variant UCEC-US 7 5662498 5662498 single base substitution C T downstream_gene_variant UCEC-US 7 5662498 5662498 single base substitution C T missense_variant R865H 2594G>A UCEC-US 7 5662498 5662498 single base substitution C T missense_variant R922H 2765G>A UCEC-US 7 5662580 5662580 single base substitution G A 3_prime_UTR_variant UCEC-US 7 5662580 5662580 single base substitution G A exon_variant UCEC-US 7 5662580 5662580 single base substitution G A missense_variant R838W 2512C>T UCEC-US 7 5662580 5662580 single base substitution G A missense_variant R895W 2683C>T UCEC-US 7 5752344 5752344 single base substitution A G splice_donor_variant UCEC-US 7 5752360 5752360 single base substitution G A 3_prime_UTR_variant UCEC-US 7 5752360 5752360 single base substitution G A exon_variant UCEC-US 7 5752360 5752360 single base substitution G A synonymous_variant A599A 1797C>T UCEC-US 7 5752360 5752360 single base substitution G A synonymous_variant A656A 1968C>T UCEC-US 7 5752410 5752410 single base substitution A G 3_prime_UTR_variant UCEC-US 7 5752410 5752410 single base substitution A G exon_variant UCEC-US 7 5752410 5752410 single base substitution A G missense_variant Y583H 1747T>C UCEC-US 7 5752410 5752410 single base substitution A G missense_variant Y640H 1918T>C UCEC-US 7 5754774 5754774 single base substitution G A 3_prime_UTR_variant UCEC-US 7 5754774 5754774 single base substitution G A synonymous_variant F524F 1572C>T UCEC-US 7 5754774 5754774 single base substitution G A synonymous_variant F581F 1743C>T UCEC-US 7 5754774 5754774 single base substitution G A upstream_gene_variant UCEC-US 7 5760734 5760734 single base substitution C T 3_prime_UTR_variant UCEC-US 7 5760734 5760734 single base substitution C T missense_variant R468Q 1403G>A UCEC-US 7 5760734 5760734 single base substitution C T missense_variant R525Q 1574G>A UCEC-US 7 5780659 5780659 single base substitution C T downstream_gene_variant UCEC-US 7 5780659 5780659 single base substitution C T exon_variant UCEC-US 7 5780659 5780659 single base substitution C T missense_variant G273E 818G>A UCEC-US 7 5780659 5780659 single base substitution C T missense_variant G330E 989G>A UCEC-US 7 5780659 5780659 single base substitution C T upstream_gene_variant UCEC-US 7 5780887 5780887 single base substitution C T downstream_gene_variant UCEC-US 7 5780887 5780887 single base substitution C T exon_variant UCEC-US 7 5780887 5780887 single base substitution C T missense_variant R197Q 590G>A UCEC-US 7 5780887 5780887 single base substitution C T missense_variant R254Q 761G>A UCEC-US 7 5780887 5780887 single base substitution C T upstream_gene_variant UCEC-US 7 5781075 5781075 single base substitution G A downstream_gene_variant UCEC-US 7 5781075 5781075 single base substitution G A exon_variant UCEC-US 7 5781075 5781075 single base substitution G A synonymous_variant S134S 402C>T UCEC-US 7 5781075 5781075 single base substitution G A synonymous_variant S191S 573C>T UCEC-US 7 5781075 5781075 single base substitution G A upstream_gene_variant UCEC-US 7 5781136 5781136 single base substitution T C downstream_gene_variant UCEC-US 7 5781136 5781136 single base substitution T C exon_variant UCEC-US 7 5781136 5781136 single base substitution T C missense_variant N114S 341A>G UCEC-US 7 5781136 5781136 single base substitution T C missense_variant N171S 512A>G UCEC-US 7 5781136 5781136 single base substitution T C upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-G4-6304-01 COSM1451672 c.1327A>G p.S443G Substitution - Missense 7:5729494-5729494 - 1517_PT COSM1451671 c.1413delA p.K471fs*19 Deletion - Frameshift 7:5725415-5725415 - 385 COSM4427048 c.422G>T p.G141V Substitution - Missense 7:5741595-5741595 - TCGA-C4-A0F1-01 COSM421905 c.2445G>T p.K815N Substitution - Missense 7:5624063-5624063 - 105T COSM1725200 c.2537C>T p.P846L Substitution - Missense 7:5623095-5623095 - TCGA-KK-A59V-01 COSM4878797 c.2761C>T p.H921Y Substitution - Missense 7:5622871-5622871 - Gp2D COSM3084596 c.532G>A p.V178I Substitution - Missense 7:5741485-5741485 - LIM2551 COSM4614052 c.2133delA p.D712fs*13 Deletion - Frameshift 7:5652439-5652439 - PD13428a COSM5798773 c.2593C>G p.P865A Substitution - Missense 7:5623039-5623039 - 2492703 COSM5600374 c.2514G>A p.V838V Substitution - coding silent 7:5623118-5623118 - 169 COSM3729942 c.293delA p.K98fs*115 Deletion - Frameshift 7:5741724-5741724 - T3724 COSM4722141 c.1907A>G p.Q636R Substitution - Missense 7:5712790-5712790 - ESCC_72 COSM5634400 c.243A>T p.P81P Substitution - coding silent 7:5741774-5741774 - TCGA-FR-A69P-06 COSM3639929 c.59G>A p.R20Q Substitution - Missense 7:5761011-5761011 - TCGA-B5-A0JY-01 COSM1091047 c.1743C>T p.F581F Substitution - coding silent 7:5715143-5715143 - TCGA-GF-A6C9-06 COSM4903122 c.2566C>T p.P856S Substitution - Missense 7:5623066-5623066 - TCGA-EE-A20C-06 COSM3639867 c.2603C>T p.P868L Substitution - Missense 7:5623029-5623029 - TCGA-BR-8080-01 COSM3881936 c.728G>A p.R243H Substitution - Missense 7:5741289-5741289 - TCGA-AA-3672-01 COSM267346 c.1719C>T p.R573R Substitution - coding silent 7:5715167-5715167 - TCGA-B5-A11E-01 COSM1091050 c.761G>A p.R254Q Substitution - Missense 7:5741256-5741256 - YULETA COSM3084590 c.832G>A p.E278K Substitution - Missense 7:5741185-5741185 - TCGA-CC-A7IH-01 COSM4924123 c.1685A>C p.Q562P Substitution - Missense 7:5716726-5716726 - TCGA-FW-A3R5-06 COSM3923852 c.2619C>T p.F873F Substitution - coding silent 7:5623013-5623013 - TCGA-CM-4743-01 COSM1451670 c.1447delA p.R483fs*7 Deletion - Frameshift 7:5725381-5725381 - TCGA-B0-5399-01 COSM485480 c.394G>T p.G132C Substitution - Missense 7:5741623-5741623 - pfg212T COSM1451670 c.1447delA p.R483fs*7 Deletion - Frameshift 7:5725381-5725381 - TCGA-A5-A0GA-01 COSM1091052 c.512A>G p.N171S Substitution - Missense 7:5741505-5741505 - PT14_1 COSM5896894 c.2656C>T p.P886S Substitution - Missense 7:5622976-5622976 - TCGA-EI-6917-01 COSM3431704 c.1135C>A p.L379I Substitution - Missense 7:5730804-5730804 - TCGA-EE-A29N-06 COSM3639928 c.964G>A p.E322K Substitution - Missense 7:5741053-5741053 - SC_9094 COSM5565937 c.1384C>T p.R462* Substitution - Nonsense 7:5729437-5729437 - TCGA-FS-A1ZZ-06 COSM3639925 c.1721G>A p.C574Y Substitution - Missense 7:5715165-5715165 - TCGA-BR-8680-01 COSM3881935 c.1043C>T p.T348M Substitution - Missense 7:5740974-5740974 - TCGA-G4-6588-01 COSM1451673 c.1312G>A p.D438N Substitution - Missense 7:5729509-5729509 - RKO COSM4649131 c.2543A>G p.N848S Substitution - Missense 7:5623089-5623089 - TCGA-DK-A3IN-01 COSM3778516 c.1852G>C p.E618Q Substitution - Missense 7:5712845-5712845 - TCGA-DS-A0VM-01 COSM461571 c.727C>T p.R243C Substitution - Missense 7:5741290-5741290 - 7T COSM3715815 c.521C>G p.S174* Substitution - Nonsense 7:5741496-5741496 - LUAD-B02515 COSM336277 c.373G>T p.D125Y Substitution - Missense 7:5741644-5741644 - pfg212T COSM4749213 c.1795A>G p.I599V Substitution - Missense 7:5715091-5715091 - TCGA-BR-6802-01 COSM601818 c.1941C>T p.A647A Substitution - coding silent 7:5712756-5712756 - XHDG25 COSM4769083 c.2150G>A p.R717H Substitution - Missense 7:5652422-5652422 - CSCC-40-T COSM4533052 c.1942G>A p.E648K Substitution - Missense 7:5712755-5712755 - TLE43 COSM4168159 c.55C>T p.H19Y Substitution - Missense 7:5761015-5761015 - P07-718 COSM247077 c.1530G>A p.M510I Substitution - Missense 7:5721147-5721147 - BD148T COSM5521206 c.453A>G p.Q151Q Substitution - coding silent 7:5741564-5741564 - T1844 COSM4533052 c.1942G>A p.E648K Substitution - Missense 7:5712755-5712755 - TCGA-30-1853-01 COSM72461 c.1577G>A p.R526H Substitution - Missense 7:5721100-5721100 - BK0012 COSM4185755 c.1511T>G p.I504R Substitution - Missense 7:5721166-5721166 - TCGA-23-2078-01 COSM72460 c.2695G>A p.D899N Substitution - Missense 7:5622937-5622937 - PD11748a COSM5767448 c.1659G>C p.L553F Substitution - Missense 7:5716752-5716752 - TCGA-FU-A3HZ-01 COSM4840903 c.936T>C p.G312G Substitution - coding silent 7:5741081-5741081 - TCGA-BR-8680-01 COSM3881924 c.2700C>T p.F900F Substitution - coding silent 7:5622932-5622932 - 30374 COSM5044228 c.589C>A p.Q197K Substitution - Missense 7:5741428-5741428 - HCC31 COSM3663292 c.1574G>T p.R525L Substitution - Missense 7:5721103-5721103 - LS180 COSM3084597 c.503A>C p.D168A Substitution - Missense 7:5741514-5741514 - TCGA-BT-A2LB-01 COSM3778517 c.1537C>T p.L513F Substitution - Missense 7:5721140-5721140 - HCC22 COSM1623014 c.998C>G p.A333G Substitution - Missense 7:5741019-5741019 - ESCC-D20 COSM5045909 c.1820_1821delTT p.F607fs*22 Deletion - Frameshift 7:5715065-5715066 - 2492701 COSM5600374 c.2514G>A p.V838V Substitution - coding silent 7:5623118-5623118 - TCGA-FS-A1ZK-06 COSM3639926 c.1497T>A p.F499L Substitution - Missense 7:5725331-5725331 - sysucc-311T COSM5467176 c.2383-8C>T p.? Unknown 7:5624133-5624133 - TCGA-DD-A11C-01 COSM4925670 c.2638A>G p.M880V Substitution - Missense 7:5622994-5622994 - TCGA-33-4566-01 COSM747358 c.1755G>T p.T585T Substitution - coding silent 7:5715131-5715131 - SA218 COSM72461 c.1577G>A p.R526H Substitution - Missense 7:5721100-5721100 - TCGA-DA-A1I1-06 COSM3084590 c.832G>A p.E278K Substitution - Missense 7:5741185-5741185 - TCGA-C4-A0F1-01 COSM421904 c.2425G>A p.E809K Substitution - Missense 7:5624083-5624083 - TCGA-AA-3492-01 COSM1451671 c.1413delA p.K471fs*19 Deletion - Frameshift 7:5725415-5725415 - RK085_C01 COSM3703256 c.1799G>T p.R600I Substitution - Missense 7:5715087-5715087 - HCC22T COSM1623014 c.998C>G p.A333G Substitution - Missense 7:5741019-5741019 - T2568 COSM4722140 c.1972G>A p.E658K Substitution - Missense 7:5712725-5712725 - KYSE50 COSM3084582 c.1565C>T p.S522F Substitution - Missense 7:5721112-5721112 - OSCC-GB_00070111 COSM3715816 c.58C>T p.R20W Substitution - Missense 7:5761012-5761012 - ICGC_MB81 COSM3765359 c.792G>A p.L264L Substitution - coding silent 7:5741225-5741225 - CSCC-27-T COSM4473082 c.1826C>T p.S609F Substitution - Missense 7:5715060-5715060 - BD124T COSM5492199 c.2252G>A p.R751H Substitution - Missense 7:5641284-5641284 - 547 COSM5612938 c.1111G>A p.D371N Substitution - Missense 7:5739286-5739286 - CSCC-11-T COSM4476151 c.2047C>T p.P683S Substitution - Missense 7:5711775-5711775 - TCGA-IR-A3LH-01 COSM4833366 c.2445G>A p.K815K Substitution - coding silent 7:5624063-5624063 - TCGA-CG-4465-01 COSM3881937 c.621G>T p.E207D Substitution - Missense 7:5741396-5741396 - T2225 COSM4722142 c.574G>T p.D192Y Substitution - Missense 7:5741443-5741443 - TCGA-DD-A11B-01 COSM4934154 c.2160-1G>T p.? Unknown 7:5641377-5641377 - YUJUBE COSM5407762 c.694C>T p.H232Y Substitution - Missense 7:5741323-5741323 - TCGA-BR-4184-01 COSM3881940 c.90G>A p.G30G Substitution - coding silent 7:5752957-5752957 - TCGA-CA-5254-01 COSM5143517 c.241C>G p.P81A Substitution - Missense 7:5741776-5741776 - TCGA-AA-A010-01 COSM284634 c.631A>C p.N211H Substitution - Missense 7:5741386-5741386 - 587336 COSM1223985 c.2029A>T p.R677W Substitution - Missense 7:5711793-5711793 - PD11340a COSM5772935 c.2662G>A p.V888M Substitution - Missense 7:5622970-5622970 - 2250254 COSM3267241 c.2213G>T p.G738V Substitution - Missense 7:5641323-5641323 - CSCC-38-T COSM4546232 c.395G>A p.G132D Substitution - Missense 7:5741622-5741622 - YUKAT COSM5407763 c.679G>A p.D227N Substitution - Missense 7:5741338-5741338 - TCGA-D1-A17Q-01 COSM1091015 c.1968C>T p.A656A Substitution - coding silent 7:5712729-5712729 - HCC72 COSM1623013 c.1544A>G p.N515S Substitution - Missense 7:5721133-5721133 - YUSCA COSM5407765 c.244G>A p.A82T Substitution - Missense 7:5741773-5741773 - CSCC-27-T COSM4474581 c.192C>T p.I64I Substitution - coding silent 7:5752855-5752855 - YUSCA COSM5407752 c.2229A>G p.E743E Substitution - coding silent 7:5641307-5641307 - ME043T COSM228455 c.749T>C p.V250A Substitution - Missense 7:5741268-5741268 - PA055 COSM1162328 c.1694A>T p.K565M Substitution - Missense 7:5716717-5716717 - TCGA-HU-A4H8-01 COSM3881925 c.2577C>T p.F859F Substitution - coding silent 7:5623055-5623055 - 3N50-VS-3T50 COSM4983175 c.2137G>A p.D713N Substitution - Missense 7:5652435-5652435 - BD236T COSM5518737 c.202-7_202-6insT p.? Unknown 7:5741821-5741822 - TCGA-13-0920-01 COSM76269 c.703T>G p.F235V Substitution - Missense 7:5741314-5741314 - TCGA-BR-4257-01 COSM1090975 c.2765G>A p.R922H Substitution - Missense 7:5622867-5622867 - Gp5D COSM3084596 c.532G>A p.V178I Substitution - Missense 7:5741485-5741485 - YUKAT COSM5407751 c.2569T>G p.Y857D Substitution - Missense 7:5623063-5623063 - B85-2-Tumor COSM1755325 c.2239C>A p.R747S Substitution - Missense 7:5641297-5641297 - PT51 COSM5938193 c.418C>T p.P140S Substitution - Missense 7:5741599-5741599 - AOCS-145-1-6 COSM4149292 c.274G>C p.G92R Substitution - Missense 7:5741743-5741743 - TCGA-D1-A167-01 COSM1091051 c.573C>T p.S191S Substitution - coding silent 7:5741444-5741444 - HCC2157 COSM24656 c.2281C>G p.R761G Substitution - Missense 7:5641255-5641255 - TCGA-DK-A1AC-01 COSM1313214 c.961C>G p.Q321E Substitution - Missense 7:5741056-5741056 - 2492702 COSM5600374 c.2514G>A p.V838V Substitution - coding silent 7:5623118-5623118 - CHC1569T COSM4791297 c.1727A>G p.Y576C Substitution - Missense 7:5715159-5715159 - TCGA-DK-A1A5-01 COSM421903 c.604G>A p.E202K Substitution - Missense 7:5741413-5741413 - HCC133T COSM1623012 c.1694delA p.K565fs*5 Deletion - Frameshift 7:5716717-5716717 - TCGA-ER-A193-06 COSM3639927 c.1321G>A p.V441M Substitution - Missense 7:5729500-5729500 - Pat_41_B COSM5872918 c.2674C>T p.P892S Substitution - Missense 7:5622958-5622958 - TCGA-CD-5802-01 COSM3881938 c.543G>T p.L181F Substitution - Missense 7:5741474-5741474 - GHE0609 COSM5714271 c.47T>C p.F16S Substitution - Missense 7:5761023-5761023 - LS174T COSM3084597 c.503A>C p.D168A Substitution - Missense 7:5741514-5741514 - LUAD-NYU129 COSM370341 c.2592C>T p.F864F Substitution - coding silent 7:5623040-5623040 - TCGA-GN-A262-06 COSM3639866 c.2671C>T p.L891L Substitution - coding silent 7:5622961-5622961 - TCGA-EE-A2MC-06 COSM3639868 c.2191A>T p.K731* Substitution - Nonsense 7:5641345-5641345 - TCGA-F4-6570-01 COSM5172316 c.2372C>A p.T791N Substitution - Missense 7:5641164-5641164 - 2492700 COSM5600374 c.2514G>A p.V838V Substitution - coding silent 7:5623118-5623118 - Au2 COSM5600374 c.2514G>A p.V838V Substitution - coding silent 7:5623118-5623118 - YURUS COSM1698351 c.1948G>A p.E650K Substitution - Missense 7:5712749-5712749 - 449 COSM4435556 c.2389G>C p.D797H Substitution - Missense 7:5624119-5624119 - pfg038T COSM4749211 c.2083G>A p.G695R Substitution - Missense 7:5652489-5652489 - T3174 COSM4722139 c.2661C>T p.Y887Y Substitution - coding silent 7:5622971-5622971 - TCGA-P4-A5EB-01 COSM3715815 c.521C>G p.S174* Substitution - Nonsense 7:5741496-5741496 - YUNEKI COSM5407764 c.306A>G p.A102A Substitution - coding silent 7:5741711-5741711 - TCGA-DM-A1D6-01 COSM1451691 c.20A>G p.N7S Substitution - Missense 7:5761050-5761050 - TCGA-BR-4361-01 COSM3881926 c.2143A>G p.K715E Substitution - Missense 7:5652429-5652429 - CHC892T COSM3267239 c.2240G>A p.R747H Substitution - Missense 7:5641296-5641296 - 7T COSM3715816 c.58C>T p.R20W Substitution - Missense 7:5761012-5761012 - CHC1569T COSM4791297 c.1727A>G p.Y576C Substitution - Missense 7:5715159-5715159 - TCGA-BQ-5876-01 COSM3995655 c.623T>C p.L208P Substitution - Missense 7:5741394-5741394 - TCGA-B8-5158-01 COSM485478 c.1842C>A p.L614L Substitution - coding silent 7:5712855-5712855 - TCGA-QG-A5Z2-01 COSM5187858 c.2313C>T p.C771C Substitution - coding silent 7:5641223-5641223 - TCGA-BR-A4QL-01 COSM3084599 c.394G>A p.G132S Substitution - Missense 7:5741623-5741623 - A9 COSM5351429 c.1524G>C p.K508N Substitution - Missense 7:5721153-5721153 - LUAD_E00623 COSM354591 c.2491C>G p.P831A Substitution - Missense 7:5623141-5623141 - I2L-P7-Tumor-Organoid COSM5358429 c.1576C>T p.R526C Substitution - Missense 7:5721101-5721101 - LUAD_E00522 COSM353532 c.148G>A p.A50T Substitution - Missense 7:5752899-5752899 - pfg068T COSM4749200 c.2755C>T p.P919S Substitution - Missense 7:5622877-5622877 - TCGA-BP-4781-01 COSM3366987 c.259G>A p.D87N Substitution - Missense 7:5741758-5741758 - TCGA-BS-A0U8-01 COSM1090977 c.2525C>T p.P842L Substitution - Missense 7:5623107-5623107 - OSCC-GB_00070111 COSM3715815 c.521C>G p.S174* Substitution - Nonsense 7:5741496-5741496 - TCGA-AP-A059-01 COSM1091049 c.989G>A p.G330E Substitution - Missense 7:5741028-5741028 - HCC131T COSM5824610 c.160C>T p.H54Y Substitution - Missense 7:5752887-5752887 - TCGA-B5-A11E-01 COSM1091014 c.1982+2T>C p.? Unknown 7:5712713-5712713 - LC_C32 COSM1187255 c.868C>T p.P290S Substitution - Missense 7:5741149-5741149 - TCGA-BS-A0TE-01 COSM1090976 c.2683C>T p.R895W Substitution - Missense 7:5622949-5622949 - B85-2 COSM1755325 c.2239C>A p.R747S Substitution - Missense 7:5641297-5641297 - TCGA-AA-A02R-01 COSM5127505 c.661G>A p.D221N Substitution - Missense 7:5741356-5741356 - TCGA-AZ-4315-01 COSM1451674 c.1240T>G p.F414V Substitution - Missense 7:5729581-5729581 - TCGA-BR-8680-01 COSM3881939 c.166G>A p.E56K Substitution - Missense 7:5752881-5752881 - TCGA-AX-A0J1-01 COSM1090975 c.2765G>A p.R922H Substitution - Missense 7:5622867-5622867 - TCGA-CM-4750-01 COSM3698490 c.831G>A p.P277P Substitution - coding silent 7:5741186-5741186 - TCGA-AP-A051-01 COSM1091016 c.1918T>C p.Y640H Substitution - Missense 7:5712779-5712779 - 587304 COSM1223984 c.1553G>A p.R518Q Substitution - Missense 7:5721124-5721124 - TCGA-CG-4442-01 COSM3881923 c.2772A>G p.*924W Nonstop extension 7:5622860-5622860 - TCGA-BS-A0UF-01 COSM1091048 c.1574G>A p.R525Q Substitution - Missense 7:5721103-5721103 - HCC31T COSM3663292 c.1574G>T p.R525L Substitution - Missense 7:5721103-5721103 - TCGA-56-6546-01 COSM747356 c.908A>T p.Q303L Substitution - Missense 7:5741109-5741109 - TCGA-EL-A3H7-01 COSM3374660 c.2599C>A p.P867T Substitution - Missense 7:5623033-5623033 - TCGA-EI-6882-01 COSM3431705 c.82C>T p.R28* Substitution - Nonsense 7:5752965-5752965 - Patient_1 COSM5346885 c.2099A>C p.H700P Substitution - Missense 7:5652473-5652473 - CHC892T COSM3267239 c.2240G>A p.R747H Substitution - Missense 7:5641296-5641296 - CSCC-41-T COSM4483769 c.2736C>T p.P912P Substitution - coding silent 7:5622896-5622896 - ESO-1133 COSM1264387 c.840G>T p.Q280H Substitution - Missense 7:5741177-5741177 - TCGA-HU-A4GC-01 COSM3881934 c.1326C>T p.L442L Substitution - coding silent 7:5729495-5729495 - HCC72T COSM1623013 c.1544A>G p.N515S Substitution - Missense 7:5721133-5721133 - 71M COSM5596018 c.854C>T p.S285L Substitution - Missense 7:5741163-5741163 - HCC2157 COSM24656 c.2281C>G p.R761G Substitution - Missense 7:5641255-5641255 - TCGA-C4-A0F1-01 COSM421906 c.2497G>C p.E833Q Substitution - Missense 7:5623135-5623135 - TCGA-AA-3851-01 COSM295621 c.2532C>T p.P844P Substitution - coding silent 7:5623100-5623100 - TCGA-18-3409-01 COSM747357 c.1357G>T p.E453* Substitution - Nonsense 7:5729464-5729464 - ESO-141 COSM1264388 c.2480C>T p.P827L Substitution - Missense 7:5623152-5623152 - TCGA-H9-7775-01 COSM1472049 c.864T>G p.S288S Substitution - coding silent 7:5741153-5741153 - TCGA-AY-6197-01 COSM1451669 c.1695+2T>C p.? Unknown 7:5716714-5716714 - TCGA-HU-8602-01 COSM3881933 c.2003C>T p.P668L Substitution - Missense 7:5711819-5711819 - RK245_C01 COSM4945106 c.1627A>G p.I543V Substitution - Missense 7:5721050-5721050 - 254891 COSM3724682 c.1390-10C>G p.? Unknown 7:5725448-5725448 - TCGA-EE-A3JD-06 COSM4394710 c.2573C>T p.A858V Substitution - Missense 7:5623059-5623059 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.487458 7p22.1 609948 267010|dbSNP|BC000787|A/G|non-coding||3053|Candidate; 610878|dbSNP|BC000787|A/G|non-coding||3046|Validated; 1230296|dbSNP|BC000787|A/G|non-coding||2308|Validated; 1230298|dbSNP|BC000787|A/G|non-coding||2916|Validated; 1230299|dbSNP|BC000787|A/G|non-coding||3010|Validated; 1484244|dbSNP|BC000787|A/G|non-coding||3065|Validated Hs.689448;Hs.689449;Hs.689451;Hs.689452;Hs.689453;Hs.689454;Hs.689455;Hs.689456 7p22.1 609948 267010|dbSNP|BC000787|A/G|non-coding||3053|Candidate; 610878|dbSNP|BC000787|A/G|non-coding||3046|Validated; 1230296|dbSNP|BC000787|A/G|non-coding||2308|Validated; 1230298|dbSNP|BC000787|A/G|non-coding||2916|Validated; 1230299|dbSNP|BC000787|A/G|non-coding||3010|Validated; 1484244|dbSNP|BC000787|A/G|non-coding||3065|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F235V c.703T>G 7 5780945 OV A C Synonymous p.S288S c.864T>G 7 5780784 PRAD A G Missense p.V250A c.749T>C 7 5780899 CM A G Missense p.V633A c.1898T>C 7 5752430 COREAD A G Missense p.Y767H c.2299T>C 7 5680868 CM - A IntronicInsertion . c.1044+275dupT 7 5780329 CM A T Missense p.F499L c.1497T>A 7 5764962 CM A T Missense p.H365Q c.1095T>A 7 5778933 STAD C A Missense p.E207D c.621G>T 7 5781027 STAD C A Missense p.K815N c.2445G>T 7 5663694 BLCA C A Missense p.L181F c.543G>T 7 5781105 STAD CC AA Missense p.R895L c.2684_2685delinsTT 7 5662578 CM CG GC Missense p.A860G c.2579_2580delinsGC 7 5662683 LUAD C G Missense p.E310Q c.928G>C 7 5780720 HNSC C G Missense p.E618Q c.1852G>C 7 5752476 BLCA C G Missense p.E833Q c.2497G>C 7 5662766 BLCA C T Missense p.C574Y c.1721G>A 7 5754796 CM C T Missense p.D87N c.259G>A 7 5781389 RCCC C T Missense p.D899N c.2695G>A 7 5662568 OV C T Missense p.E202K c.604G>A 7 5781044 BLCA C T Missense p.E278K c.832G>A 7 5780816 CM C T Missense p.E322K c.964G>A 7 5780684 CM C T Missense p.E809K c.2425G>A 7 5663714 BLCA C T Missense p.R526H c.1577G>A 7 5760731 BRCA C T Missense p.R526H c.1577G>A 7 5760731 OV C T Missense p.R922H c.2765G>A 7 5662498 STAD C T Missense p.V441M c.1321G>A 7 5769131 CM C T Synonymous p.L264L c.792G>A 7 5780856 MB G A Missense p.A858V c.2573C>T 7 5662690 CM G A Missense p.H19Y c.55C>T 7 5800646 ALL G A Missense p.L513F c.1537C>T 7 5760771 BLCA G A Missense p.P117S c.349C>T 7 5781299 CM G A Missense p.P277S c.829C>T 7 5780819 CM G A Missense p.P626L c.1877C>T 7 5752451 COREAD G A Missense p.P827L c.2480C>T 7 5662783 ESCA G A Missense p.P846L c.2537C>T 7 5662726 HNSC G A Missense p.P868L c.2603C>T 7 5662660 CM G A Missense p.P892L c.2675C>T 7 5662588 CM G A Missense p.R895W c.2683C>T 7 5662580 UCEC G A Synonymous p.A647A c.1941C>T 7 5752387 LUAD G A Synonymous p.A647A c.1941C>T 7 5752387 STAD G A Synonymous p.I460I c.1380C>T 7 5769072 CM G A Synonymous p.L891L c.2671C>T 7 5662592 CM G A Synonymous p.P156P c.468C>T 7 5781180 CM G A Synonymous p.P844P c.2532C>T 7 5662731 COREAD G T Missense p.P867T c.2599C>A 7 5662664 THCA G T Missense p.S719Y c.2156C>A 7 5692047 CM G T Synonymous p.L614L c.1842C>A 7 5752486 RCCC T - 5-UTRDeletion . c.1-59delA 7 5800759 RCCC T A IntronicSNV . c.2160-86A>T 7 5681093 CLL T A Missense p.Q303L c.908A>T 7 5780740 LUSC T A Missense p.Q772H c.2316A>T 7 5680851 LUAD T A Nonsense p.K731* c.2191A>T 7 5680976 CM T C 5-UTRSNV . c.1-22A>G 7 5800722 LUAD T C Missense p.I801V c.2401A>G 7 5663738 CM T C Missense p.N171S c.512A>G 7 5781136 UCEC T C Missense p.Y655C c.1964A>G 7 5752364 STAD T - IntronicDeletion . c.1-19124delA 7 5819824 STAD