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 5 114462409 114462409 + Missense_Mutation SNP G G T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr5:114462409G>T c.1978C>A c.(1978-1980)Ctc>Atc p.L660I BLCA 5 114462550 114462550 + Missense_Mutation SNP C C T TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr5:114462550C>T c.1837G>A c.(1837-1839)Gag>Aag p.E613K BLCA 5 114466549 114466549 + Silent SNP A A G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 g.chr5:114466549A>G c.1572T>C c.(1570-1572)aaT>aaC p.N524N BLCA 5 114469674 114469674 + Missense_Mutation SNP T T C TCGA-XF-A9SZ-01A-11D-A391-08 TCGA-XF-A9SZ-10A-01D-A394-08 g.chr5:114469674T>C c.1417A>G c.(1417-1419)Aaa>Gaa p.K473E BLCA 5 114469698 114469698 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 g.chr5:114469698C>G c.1393G>C c.(1393-1395)Gag>Cag p.E465Q BLCA 5 114469713 114469713 + Missense_Mutation SNP C C G TCGA-KQ-A41P-01A-12D-A339-08 TCGA-KQ-A41P-10F-01D-A339-08 g.chr5:114469713C>G c.1378G>C c.(1378-1380)Gaa>Caa p.E460Q BLCA 5 114472811 114472811 + Missense_Mutation SNP C C T TCGA-4Z-AA82-01A-11D-A391-08 TCGA-4Z-AA82-10A-01D-A394-08 g.chr5:114472811C>T c.1132G>A c.(1132-1134)Gcc>Acc p.A378T BLCA 5 114473227 114473227 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 g.chr5:114473227C>G c.954G>C c.(952-954)ttG>ttC p.L318F BLCA 5 114499268 114499268 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 g.chr5:114499268C>T c.245G>A c.(244-246)cGa>cAa p.R82Q BRCA 5 114462415 114462416 + Frame_Shift_Del DEL TA TA - TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr5:114462415_114462416delTA c.1971_1972delTA c.(1969-1974)aatagafs p.NR657fs BRCA 5 114482989 114482989 + Missense_Mutation SNP C C T TCGA-E9-A1R5-01A-11D-A14K-09 TCGA-E9-A1R5-10A-01D-A14K-09 g.chr5:114482989C>T c.401G>A c.(400-402)cGa>cAa p.R134Q BRCA 5 114499229 114499229 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr5:114499229C>T c.284G>A c.(283-285)cGa>cAa p.R95Q CESC 5 114462253 114462253 + Nonsense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 g.chr5:114462253G>A c.2134C>T c.(2134-2136)Cag>Tag p.Q712* CESC 5 114466485 114466485 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 g.chr5:114466485G>A c.1636C>T c.(1636-1638)Ctg>Ttg p.L546L CHOL 5 114483090 114483090 + Splice_Site SNP G G T TCGA-W5-AA2R-01A-11D-A417-09 TCGA-W5-AA2R-10A-01D-A41A-09 g.chr5:114483090G>T c.300C>A c.(298-300)ggC>ggA p.G100G CHOL 5 114506912 114506912 + Intron SNP T T C TCGA-4G-AAZT-01A-11D-A417-09 TCGA-4G-AAZT-10A-01D-A41A-09 g.chr5:114506912T>C COAD 5 114462267 114462267 + Missense_Mutation SNP C C T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr5:114462267C>T c.2120G>A c.(2119-2121)gGc>gAc p.G707D COAD 5 114466327 114466327 + Silent SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:114466327T>C c.1794A>G c.(1792-1794)caA>caG p.Q598Q COAD 5 114466469 114466469 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr5:114466469C>T c.1652G>A c.(1651-1653)cGc>cAc p.R551H COAD 5 114469588 114469588 + Silent SNP T T C TCGA-AA-3489-01A-21D-1835-10 TCGA-AA-3489-11A-01D-1835-10 g.chr5:114469588T>C c.1503A>G c.(1501-1503)agA>agG p.R501R COAD 5 114469588 114469588 + Silent SNP T T C TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr5:114469588T>C c.1503A>G c.(1501-1503)agA>agG p.R501R COAD 5 114469588 114469588 + Silent SNP T T C TCGA-AZ-4681-01A-01D-1408-10 TCGA-AZ-4681-10A-01D-1408-10 g.chr5:114469588T>C c.1503A>G c.(1501-1503)agA>agG p.R501R COAD 5 114469588 114469588 + Silent SNP T T C TCGA-D5-7000-01A-11D-1924-10 TCGA-D5-7000-10A-01D-1924-10 g.chr5:114469588T>C c.1503A>G c.(1501-1503)agA>agG p.R501R COAD 5 114469589 114469589 + Missense_Mutation SNP C C T TCGA-DM-A1D9-01A-11D-A152-10 TCGA-DM-A1D9-10A-01D-A152-10 g.chr5:114469589C>T c.1502G>A c.(1501-1503)aGa>aAa p.R501K COAD 5 114469751 114469751 + Missense_Mutation SNP C C T TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr5:114469751C>T c.1340G>A c.(1339-1341)aGc>aAc p.S447N COAD 5 114469804 114469804 + Silent SNP A A G TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr5:114469804A>G c.1287T>C c.(1285-1287)gtT>gtC p.V429V COAD 5 114469805 114469805 + Missense_Mutation SNP A A G TCGA-CK-5914-01A-11D-1650-10 TCGA-CK-5914-10A-01D-1650-10 g.chr5:114469805A>G c.1286T>C c.(1285-1287)gTt>gCt p.V429A COAD 5 114480313 114480313 + Silent SNP A A G TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr5:114480313A>G c.753T>C c.(751-753)agT>agC p.S251S COAD 5 114482905 114482905 + Missense_Mutation SNP G G A TCGA-CM-6677-01A-11D-1835-10 TCGA-CM-6677-10A-01D-1835-10 g.chr5:114482905G>A c.485C>T c.(484-486)cCa>cTa p.P162L COAD 5 114482905 114482905 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr5:114482905G>A c.485C>T c.(484-486)cCa>cTa p.P162L COAD 5 114482961 114482961 + Silent SNP T T C TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr5:114482961T>C c.429A>G c.(427-429)gaA>gaG p.E143E COAD 5 114482963 114482963 + Nonsense_Mutation SNP C C A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr5:114482963C>A c.427G>T c.(427-429)Gaa>Taa p.E143* COAD 5 114483066 114483066 + Silent SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr5:114483066C>T c.324G>A c.(322-324)ccG>ccA p.P108P COAD 5 114499229 114499229 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr5:114499229C>T c.284G>A c.(283-285)cGa>cAa p.R95Q COAD 5 114499257 114499257 + Missense_Mutation SNP G G T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr5:114499257G>T c.256C>A c.(256-258)Ccc>Acc p.P86T COAD 5 114499401 114499401 + Nonsense_Mutation SNP C C A TCGA-A6-4105-01A-02D-1771-10 TCGA-A6-4105-10A-01D-1771-10 g.chr5:114499401C>A c.112G>T c.(112-114)Gag>Tag p.E38* COAD 5 114513564 114513564 + Intron SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:114513564T>G COADREAD 5 114462267 114462267 + Missense_Mutation SNP C C T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr5:114462267C>T c.2120G>A c.(2119-2121)gGc>gAc p.G707D COADREAD 5 114462493 114462493 + Missense_Mutation SNP G G C TCGA-AG-3601-01A-01W-0833-10 TCGA-AG-3601-10A-01W-0833-10 g.chr5:114462493G>C c.1894C>G c.(1894-1896)Cca>Gca p.P632A COADREAD 5 114466327 114466327 + Silent SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:114466327T>C c.1794A>G c.(1792-1794)caA>caG p.Q598Q COADREAD 5 114466469 114466469 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr5:114466469C>T c.1652G>A c.(1651-1653)cGc>cAc p.R551H COADREAD 5 114469588 114469588 + Silent SNP T T C TCGA-AA-3489-01A-21D-1835-10 TCGA-AA-3489-11A-01D-1835-10 g.chr5:114469588T>C c.1503A>G c.(1501-1503)agA>agG p.R501R COADREAD 5 114469588 114469588 + Silent SNP T T C TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr5:114469588T>C c.1503A>G c.(1501-1503)agA>agG p.R501R COADREAD 5 114469588 114469588 + Silent SNP T T C TCGA-AZ-4681-01A-01D-1408-10 TCGA-AZ-4681-10A-01D-1408-10 g.chr5:114469588T>C c.1503A>G c.(1501-1503)agA>agG p.R501R COADREAD 5 114469588 114469588 + Silent SNP T T C TCGA-D5-7000-01A-11D-1924-10 TCGA-D5-7000-10A-01D-1924-10 g.chr5:114469588T>C c.1503A>G c.(1501-1503)agA>agG p.R501R COADREAD 5 114469589 114469589 + Missense_Mutation SNP C C T TCGA-DM-A1D9-01A-11D-A152-10 TCGA-DM-A1D9-10A-01D-A152-10 g.chr5:114469589C>T c.1502G>A c.(1501-1503)aGa>aAa p.R501K COADREAD 5 114469751 114469751 + Missense_Mutation SNP C C A TCGA-G5-6235-01A-11D-1733-10 TCGA-G5-6235-10A-01D-1733-10 g.chr5:114469751C>A c.1340G>T c.(1339-1341)aGc>aTc p.S447I COADREAD 5 114469751 114469751 + Missense_Mutation SNP C C T TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr5:114469751C>T c.1340G>A c.(1339-1341)aGc>aAc p.S447N COADREAD 5 114469752 114469752 + Missense_Mutation SNP T T C TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr5:114469752T>C c.1339A>G c.(1339-1341)Agc>Ggc p.S447G COADREAD 5 114469804 114469804 + Silent SNP A A G TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr5:114469804A>G c.1287T>C c.(1285-1287)gtT>gtC p.V429V COADREAD 5 114469805 114469805 + Missense_Mutation SNP A A G TCGA-CK-5914-01A-11D-1650-10 TCGA-CK-5914-10A-01D-1650-10 g.chr5:114469805A>G c.1286T>C c.(1285-1287)gTt>gCt p.V429A COADREAD 5 114469836 114469836 + Missense_Mutation SNP C C T TCGA-G5-6641-01A-11D-1826-10 TCGA-G5-6641-10A-01D-1826-10 g.chr5:114469836C>T c.1255G>A c.(1255-1257)Gtg>Atg p.V419M COADREAD 5 114480313 114480313 + Silent SNP A A G TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr5:114480313A>G c.753T>C c.(751-753)agT>agC p.S251S COADREAD 5 114482905 114482905 + Missense_Mutation SNP G G A TCGA-CM-6677-01A-11D-1835-10 TCGA-CM-6677-10A-01D-1835-10 g.chr5:114482905G>A c.485C>T c.(484-486)cCa>cTa p.P162L COADREAD 5 114482905 114482905 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr5:114482905G>A c.485C>T c.(484-486)cCa>cTa p.P162L COADREAD 5 114482961 114482961 + Silent SNP T T C TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr5:114482961T>C c.429A>G c.(427-429)gaA>gaG p.E143E COADREAD 5 114482963 114482963 + Nonsense_Mutation SNP C C A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr5:114482963C>A c.427G>T c.(427-429)Gaa>Taa p.E143* COADREAD 5 114483066 114483066 + Silent SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr5:114483066C>T c.324G>A c.(322-324)ccG>ccA p.P108P COADREAD 5 114499229 114499229 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr5:114499229C>T c.284G>A c.(283-285)cGa>cAa p.R95Q COADREAD 5 114499257 114499257 + Missense_Mutation SNP G G T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr5:114499257G>T c.256C>A c.(256-258)Ccc>Acc p.P86T COADREAD 5 114499401 114499401 + Nonsense_Mutation SNP C C A TCGA-A6-4105-01A-02D-1771-10 TCGA-A6-4105-10A-01D-1771-10 g.chr5:114499401C>A c.112G>T c.(112-114)Gag>Tag p.E38* COADREAD 5 114513564 114513564 + Intron SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:114513564T>G DLBC 5 114482847 114482847 + Silent SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr5:114482847T>C c.543A>G c.(541-543)gaA>gaG p.E181E ESCA 5 114462496 114462496 + Missense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 g.chr5:114462496G>T c.1891C>A c.(1891-1893)Caa>Aaa p.Q631K ESCA 5 114469750 114469750 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 g.chr5:114469750G>T c.1341C>A c.(1339-1341)agC>agA p.S447R ESCA 5 114473234 114473234 + Missense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 g.chr5:114473234G>T c.947C>A c.(946-948)tCt>tAt p.S316Y ESCA 5 114477023 114477023 + Missense_Mutation SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 g.chr5:114477023C>T c.820G>A c.(820-822)Gtg>Atg p.V274M ESCA 5 114499263 114499263 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 g.chr5:114499263G>A c.250C>T c.(250-252)Cgg>Tgg p.R84W ESCA 5 114499432 114499432 + Silent SNP G G A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr5:114499432G>A c.81C>T c.(79-81)atC>atT p.I27I GBMLGG 5 114469804 114469804 + Silent SNP A A G TCGA-E1-A7YD-01A-11D-A34A-08 TCGA-E1-A7YD-10A-01D-A34A-08 g.chr5:114469804A>G c.1287T>C c.(1285-1287)gtT>gtC p.V429V HNSC 5 114462268 114462268 + Missense_Mutation SNP C C T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 g.chr5:114462268C>T c.2119G>A c.(2119-2121)Ggc>Agc p.G707S HNSC 5 114469606 114469606 + Missense_Mutation SNP G G C TCGA-CV-7414-01A-11D-2078-08 TCGA-CV-7414-10A-01D-2078-08 g.chr5:114469606G>C c.1485C>G c.(1483-1485)atC>atG p.I495M HNSC 5 114472790 114472790 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chr5:114472790A>G c.1153T>C c.(1153-1155)Ttt>Ctt p.F385L HNSC 5 114483091 114483091 + Splice_Site SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 g.chr5:114483091C>A c.299G>T c.(298-300)gGc>gTc p.G100V HNSC 5 114499269 114499269 + Missense_Mutation SNP G G C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 g.chr5:114499269G>C c.244C>G c.(244-246)Cga>Gga p.R82G HNSC 5 114499269 114499269 + Nonsense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 g.chr5:114499269G>A c.244C>T c.(244-246)Cga>Tga p.R82* HNSC 5 114499398 114499398 + Missense_Mutation SNP G G T TCGA-CV-A461-01A-41D-A25Y-08 TCGA-CV-A461-10A-01D-A25Y-08 g.chr5:114499398G>T c.115C>A c.(115-117)Ctg>Atg p.L39M HNSC 5 114506852 114506852 + Intron SNP G G A TCGA-CN-6988-01A-11D-1912-08 TCGA-CN-6988-10A-01D-1912-08 g.chr5:114506852G>A HNSC 5 114515698 114515698 + Missense_Mutation SNP T T G TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 g.chr5:114515698T>G c.37A>C c.(37-39)Atc>Ctc p.I13L KIPAN 5 114462477 114462477 + Missense_Mutation SNP G G C TCGA-UN-AAZ9-01A-11D-A382-10 TCGA-UN-AAZ9-10A-01D-A385-10 g.chr5:114462477G>C c.1910C>G c.(1909-1911)aCt>aGt p.T637S KIPAN 5 114499350 114499350 + Nonsense_Mutation SNP T T A TCGA-B0-5115-01A-01D-1421-08 TCGA-B0-5115-11A-01D-1421-08 g.chr5:114499350T>A c.163A>T c.(163-165)Aaa>Taa p.K55* KIPAN 5 114513529 114513529 + Intron SNP C C T TCGA-B0-5109-01A-02D-1421-08 TCGA-B0-5109-11A-01D-1421-08 g.chr5:114513529C>T KIPAN 5 114515696 114515696 + Silent SNP G G A TCGA-B9-5156-01A-01D-1589-08 TCGA-B9-5156-10A-01D-1589-08 g.chr5:114515696G>A c.39C>T c.(37-39)atC>atT p.I13I KIRC 5 114499350 114499350 + Nonsense_Mutation SNP T T A TCGA-B0-5115-01A-01D-1421-08 TCGA-B0-5115-11A-01D-1421-08 g.chr5:114499350T>A c.163A>T c.(163-165)Aaa>Taa p.K55* KIRC 5 114513529 114513529 + Intron SNP C C T TCGA-B0-5109-01A-02D-1421-08 TCGA-B0-5109-11A-01D-1421-08 g.chr5:114513529C>T KIRP 5 114462477 114462477 + Missense_Mutation SNP G G C TCGA-UN-AAZ9-01A-11D-A382-10 TCGA-UN-AAZ9-10A-01D-A385-10 g.chr5:114462477G>C c.1910C>G c.(1909-1911)aCt>aGt p.T637S KIRP 5 114515696 114515696 + Silent SNP G G A TCGA-B9-5156-01A-01D-1589-08 TCGA-B9-5156-10A-01D-1589-08 g.chr5:114515696G>A c.39C>T c.(37-39)atC>atT p.I13I LGG 5 114469804 114469804 + Silent SNP A A G TCGA-E1-A7YD-01A-11D-A34A-08 TCGA-E1-A7YD-10A-01D-A34A-08 g.chr5:114469804A>G c.1287T>C c.(1285-1287)gtT>gtC p.V429V LIHC 5 114462308 114462308 + Silent SNP C C T TCGA-CC-A5UC-01A-11D-A28X-10 TCGA-CC-A5UC-10A-01D-A28X-10 g.chr5:114462308C>T c.2079G>A c.(2077-2079)gtG>gtA p.V693V LIHC 5 114462349 114462349 + Missense_Mutation SNP A A G TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr5:114462349A>G c.2038T>C c.(2038-2040)Tat>Cat p.Y680H LIHC 5 114469810 114469810 + Silent SNP G G A TCGA-DD-AAD0-01A-11D-A40R-10 TCGA-DD-AAD0-10A-01D-A40U-10 g.chr5:114469810G>A c.1281C>T c.(1279-1281)agC>agT p.S427S LIHC 5 114506845 114506845 + Intron SNP G G T TCGA-FV-A2QQ-01A-11D-A22F-10 TCGA-FV-A2QQ-10B-01D-A22F-10 g.chr5:114506845G>T LIHC 5 114506870 114506870 + Intron SNP G G A TCGA-MI-A75I-01A-11D-A32G-10 TCGA-MI-A75I-10A-01D-A32G-10 g.chr5:114506870G>A LUAD 5 114466440 114466440 + Missense_Mutation SNP C C T TCGA-97-8172-01A-11D-2284-08 TCGA-97-8172-10A-01D-2284-08 g.chr5:114466440C>T c.1681G>A c.(1681-1683)Gac>Aac p.D561N LUAD 5 114469662 114469662 + Missense_Mutation SNP C C A TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 g.chr5:114469662C>A c.1429G>T c.(1429-1431)Gac>Tac p.D477Y LUAD 5 114469845 114469845 + Splice_Site SNP C C A TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr5:114469845C>A c.e8-1 LUAD 5 114472804 114472804 + Missense_Mutation SNP T T C TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr5:114472804T>C c.1139A>G c.(1138-1140)gAa>gGa p.E380G LUAD 5 114480312 114480312 + Missense_Mutation SNP C C A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 g.chr5:114480312C>A c.754G>T c.(754-756)Gcc>Tcc p.A252S LUAD 5 114482982 114482982 + Silent SNP G G A TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 g.chr5:114482982G>A c.408C>T c.(406-408)ttC>ttT p.F136F LUAD 5 114499262 114499262 + Missense_Mutation SNP C C T TCGA-55-8299-01A-11D-2284-08 TCGA-55-8299-10B-01D-2323-08 g.chr5:114499262C>T c.251G>A c.(250-252)cGg>cAg p.R84Q LUAD 5 114499299 114499299 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr5:114499299C>G c.214G>C c.(214-216)Gga>Cga p.G72R LUAD 5 114499327 114499327 + Silent SNP C C A TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr5:114499327C>A c.186G>T c.(184-186)ctG>ctT p.L62L LUAD 5 114506854 114506854 + Intron SNP T T A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 g.chr5:114506854T>A LUSC 5 114462205 114462205 + Missense_Mutation SNP T T C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr5:114462205T>C c.2182A>G c.(2182-2184)Atg>Gtg p.M728V LUSC 5 114469806 114469806 + Missense_Mutation SNP C C A TCGA-39-5029-01A-01D-1441-08 TCGA-39-5029-11A-01D-1441-08 g.chr5:114469806C>A c.1285G>T c.(1285-1287)Gtt>Ttt p.V429F LUSC 5 114499374 114499374 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr5:114499374G>A c.139C>T c.(139-141)Cct>Tct p.P47S OV 5 114469588 114469588 + Silent SNP T T C TCGA-29-2427-01A-01W-0799-08 TCGA-29-2427-10A-01W-0800-08 g.chr5:114469588T>C c.1503A>G c.(1501-1503)agA>agG p.R501R OV 5 114469806 114469806 + Missense_Mutation SNP C C T TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 g.chr5:114469806C>T c.1285G>A c.(1285-1287)Gtt>Att p.V429I OV 5 114482905 114482905 + Missense_Mutation SNP G G A TCGA-13-0730-01A-01W-0370-10 TCGA-13-0730-10B-01W-0370-10 g.chr5:114482905G>A c.485C>T c.(484-486)cCa>cTa p.P162L OV 5 114482962 114482962 + Missense_Mutation SNP T T A TCGA-09-1659-01B-01W-0615-10 TCGA-09-1659-10A-01W-0616-10 g.chr5:114482962T>A c.428A>T c.(427-429)gAa>gTa p.E143V PAAD 5 114462446 114462446 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:114462446C>A c.1941G>T c.(1939-1941)aaG>aaT p.K647N PAAD 5 114483023 114483023 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:114483023C>A c.367G>T c.(367-369)Gat>Tat p.D123Y PAAD 5 114499317 114499317 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:114499317C>A c.196G>T c.(196-198)Gat>Tat p.D66Y PAAD 5 114506859 114506859 + Intron SNP C C T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 g.chr5:114506859C>T PAAD 5 114515703 114515703 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:114515703C>T c.32G>A c.(31-33)gGc>gAc p.G11D PRAD 5 114466299 114466299 + Missense_Mutation SNP C C T TCGA-HC-7233-01A-11D-2114-08 TCGA-HC-7233-10A-01D-2115-08 g.chr5:114466299C>T c.1822G>A c.(1822-1824)Gtt>Att p.V608I PRAD 5 114466495 114466495 + Silent SNP T T A TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr5:114466495T>A c.1626A>T c.(1624-1626)ggA>ggT p.G542G PRAD 5 114466559 114466559 + Missense_Mutation SNP C C T TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 g.chr5:114466559C>T c.1562G>A c.(1561-1563)tGt>tAt p.C521Y READ 5 114462493 114462493 + Missense_Mutation SNP G G C TCGA-AG-3601-01A-01W-0833-10 TCGA-AG-3601-10A-01W-0833-10 g.chr5:114462493G>C c.1894C>G c.(1894-1896)Cca>Gca p.P632A READ 5 114469751 114469751 + Missense_Mutation SNP C C A TCGA-G5-6235-01A-11D-1733-10 TCGA-G5-6235-10A-01D-1733-10 g.chr5:114469751C>A c.1340G>T c.(1339-1341)aGc>aTc p.S447I READ 5 114469752 114469752 + Missense_Mutation SNP T T C TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr5:114469752T>C c.1339A>G c.(1339-1341)Agc>Ggc p.S447G READ 5 114469836 114469836 + Missense_Mutation SNP C C T TCGA-G5-6641-01A-11D-1826-10 TCGA-G5-6641-10A-01D-1826-10 g.chr5:114469836C>T c.1255G>A c.(1255-1257)Gtg>Atg p.V419M SARC 5 114466386 114466386 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr5:114466386G>A c.1735C>T c.(1735-1737)Cgt>Tgt p.R579C SKCM 5 114462242 114462242 + Silent SNP T T C TCGA-EE-A29P-06A-11D-A197-08 TCGA-EE-A29P-10A-01D-A199-08 g.chr5:114462242T>C c.2145A>G c.(2143-2145)gaA>gaG p.E715E SKCM 5 114466386 114466386 + Missense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr5:114466386G>A c.1735C>T c.(1735-1737)Cgt>Tgt p.R579C SKCM 5 114466465 114466465 + Silent SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr5:114466465G>A c.1656C>T c.(1654-1656)atC>atT p.I552I SKCM 5 114466515 114466515 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr5:114466515G>A c.1606C>T c.(1606-1608)Cgt>Tgt p.R536C SKCM 5 114469560 114469560 + Missense_Mutation SNP G G A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 g.chr5:114469560G>A c.1531C>T c.(1531-1533)Cca>Tca p.P511S SKCM 5 114469656 114469656 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr5:114469656C>T c.1435G>A c.(1435-1437)Gaa>Aaa p.E479K SKCM 5 114472711 114472711 + Missense_Mutation SNP G G A TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr5:114472711G>A c.1232C>T c.(1231-1233)tCc>tTc p.S411F SKCM 5 114473250 114473250 + Missense_Mutation SNP C C T TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 g.chr5:114473250C>T c.931G>A c.(931-933)Gaa>Aaa p.E311K SKCM 5 114482906 114482906 + Missense_Mutation SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr5:114482906G>A c.484C>T c.(484-486)Cca>Tca p.P162S SKCM 5 114482954 114482954 + Missense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr5:114482954G>A c.436C>T c.(436-438)Cgt>Tgt p.R146C SKCM 5 114482989 114482989 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr5:114482989C>T c.401G>A c.(400-402)cGa>cAa p.R134Q SKCM 5 114483010 114483010 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr5:114483010C>T c.380G>A c.(379-381)cGa>cAa p.R127Q SKCM 5 114483050 114483050 + Missense_Mutation SNP G G A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr5:114483050G>A c.340C>T c.(340-342)Cct>Tct p.P114S SKCM 5 114499263 114499263 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 g.chr5:114499263G>A c.250C>T c.(250-252)Cgg>Tgg p.R84W SKCM 5 114499295 114499295 + Missense_Mutation SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr5:114499295G>A c.218C>T c.(217-219)tCa>tTa p.S73L SKCM 5 114513559 114513559 + Intron SNP A A G TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr5:114513559A>G SKCM 5 114515705 114515705 + Missense_Mutation SNP A A T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr5:114515705A>T c.30T>A c.(28-30)ttT>ttA p.F10L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 5 114466549 114466549 single base substitution A G synonymous_variant N369N 1107T>C BLCA-US 5 114466549 114466549 single base substitution A G synonymous_variant N512N 1536T>C BLCA-US 5 114466549 114466549 single base substitution A G synonymous_variant N524N 1572T>C BLCA-US 5 114469698 114469698 single base substitution C G missense_variant E310Q 928G>C BLCA-US 5 114469698 114469698 single base substitution C G missense_variant E453Q 1357G>C BLCA-US 5 114469698 114469698 single base substitution C G missense_variant E465Q 1393G>C BLCA-US 5 114473227 114473227 single base substitution C G downstream_gene_variant BLCA-US 5 114473227 114473227 single base substitution C G missense_variant L163F 489G>C BLCA-US 5 114473227 114473227 single base substitution C G missense_variant L306F 918G>C BLCA-US 5 114473227 114473227 single base substitution C G missense_variant L318F 954G>C BLCA-US 5 114499268 114499268 single base substitution C T exon_variant BLCA-US 5 114499268 114499268 single base substitution C T intron_variant BLCA-US 5 114499268 114499268 single base substitution C T missense_variant R70Q 209G>A BLCA-US 5 114499268 114499268 single base substitution C T missense_variant R82Q 245G>A BOCA-FR 5 114468462 114468462 single base substitution C G intron_variant BOCA-FR 5 114470930 114470930 single base substitution C T intron_variant BOCA-FR 5 114480546 114480546 single base substitution A C downstream_gene_variant BOCA-FR 5 114480546 114480546 single base substitution A C intron_variant BOCA-FR 5 114495359 114495359 single base substitution G A intron_variant BOCA-FR 5 114495359 114495359 single base substitution G A missense_variant R91W 271C>T BRCA-EU 5 114455493 114455493 single base substitution G C downstream_gene_variant BRCA-EU 5 114455799 114455799 single base substitution G A downstream_gene_variant BRCA-EU 5 114456519 114456519 single base substitution G A downstream_gene_variant BRCA-EU 5 114456594 114456594 single base substitution G A downstream_gene_variant BRCA-EU 5 114457295 114457295 single base substitution T A downstream_gene_variant BRCA-EU 5 114457534 114457534 single base substitution A T downstream_gene_variant BRCA-EU 5 114458548 114458548 single base substitution C G downstream_gene_variant BRCA-EU 5 114458706 114458706 single base substitution G C downstream_gene_variant BRCA-EU 5 114460232 114460232 single base substitution A T downstream_gene_variant BRCA-EU 5 114466129 114466129 single base substitution T C intron_variant BRCA-EU 5 114466543 114466543 single base substitution T G missense_variant E371D 1113A>C BRCA-EU 5 114466543 114466543 single base substitution T G missense_variant E514D 1542A>C BRCA-EU 5 114466543 114466543 single base substitution T G missense_variant E526D 1578A>C BRCA-EU 5 114469647 114469647 single base substitution T C missense_variant S327G 979A>G BRCA-EU 5 114469647 114469647 single base substitution T C missense_variant S470G 1408A>G BRCA-EU 5 114469647 114469647 single base substitution T C missense_variant S482G 1444A>G BRCA-EU 5 114470064 114470064 single base substitution G T intron_variant BRCA-EU 5 114470102 114470102 single base substitution A G intron_variant BRCA-EU 5 114472065 114472065 single base substitution G T downstream_gene_variant BRCA-EU 5 114472065 114472065 single base substitution G T intron_variant BRCA-EU 5 114474252 114474252 single base substitution C A downstream_gene_variant BRCA-EU 5 114474252 114474252 single base substitution C A intron_variant BRCA-EU 5 114474552 114474552 single base substitution G A downstream_gene_variant BRCA-EU 5 114474552 114474552 single base substitution G A intron_variant BRCA-EU 5 114475636 114475669 deletion of <=200bp GAGGACCAACAAACAAGGCTATTAATAAAATGAC - downstream_gene_variant BRCA-EU 5 114475636 114475669 deletion of <=200bp GAGGACCAACAAACAAGGCTATTAATAAAATGAC - intron_variant BRCA-EU 5 114476114 114476114 single base substitution T C downstream_gene_variant BRCA-EU 5 114476114 114476114 single base substitution T C intron_variant BRCA-EU 5 114476124 114476124 single base substitution T C downstream_gene_variant BRCA-EU 5 114476124 114476124 single base substitution T C intron_variant BRCA-EU 5 114476626 114476626 single base substitution A G downstream_gene_variant BRCA-EU 5 114476626 114476626 single base substitution A G intron_variant BRCA-EU 5 114476787 114476787 single base substitution G T downstream_gene_variant BRCA-EU 5 114476787 114476787 single base substitution G T intron_variant BRCA-EU 5 114477110 114477110 single base substitution G C intron_variant BRCA-EU 5 114477131 114477131 single base substitution G A intron_variant BRCA-EU 5 114478149 114478149 single base substitution A C downstream_gene_variant BRCA-EU 5 114478149 114478149 single base substitution A C intron_variant BRCA-EU 5 114478605 114478605 single base substitution C G downstream_gene_variant BRCA-EU 5 114478605 114478605 single base substitution C G intron_variant BRCA-EU 5 114478633 114478633 single base substitution G A downstream_gene_variant BRCA-EU 5 114478633 114478633 single base substitution G A intron_variant BRCA-EU 5 114478660 114478660 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 114478660 114478660 deletion of <=200bp T - intron_variant BRCA-EU 5 114479510 114479510 single base substitution G T downstream_gene_variant BRCA-EU 5 114479510 114479510 single base substitution G T intron_variant BRCA-EU 5 114479532 114479532 single base substitution C T downstream_gene_variant BRCA-EU 5 114479532 114479532 single base substitution C T intron_variant BRCA-EU 5 114480235 114480235 single base substitution G C downstream_gene_variant BRCA-EU 5 114480235 114480235 single base substitution G C intron_variant BRCA-EU 5 114481733 114481733 single base substitution C T downstream_gene_variant BRCA-EU 5 114481733 114481733 single base substitution C T intron_variant BRCA-EU 5 114482692 114482692 single base substitution G A downstream_gene_variant BRCA-EU 5 114482692 114482692 single base substitution G A intron_variant BRCA-EU 5 114482833 114482833 single base substitution T A downstream_gene_variant BRCA-EU 5 114482833 114482833 single base substitution T A exon_variant BRCA-EU 5 114482833 114482833 single base substitution T A missense_variant H174L 521A>T BRCA-EU 5 114482833 114482833 single base substitution T A missense_variant H186L 557A>T BRCA-EU 5 114482833 114482833 single base substitution T A missense_variant H31L 92A>T BRCA-EU 5 114483993 114483993 single base substitution A G intron_variant BRCA-EU 5 114484292 114484292 single base substitution G A intron_variant BRCA-EU 5 114484913 114484913 single base substitution C A intron_variant BRCA-EU 5 114485465 114485465 deletion of <=200bp T - intron_variant BRCA-EU 5 114486346 114486346 single base substitution C G intron_variant BRCA-EU 5 114487272 114487272 single base substitution G C intron_variant BRCA-EU 5 114488449 114488449 single base substitution G A intron_variant BRCA-EU 5 114489026 114489026 single base substitution G C intron_variant BRCA-EU 5 114489177 114489177 single base substitution C T intron_variant BRCA-EU 5 114489917 114489917 single base substitution T C intron_variant BRCA-EU 5 114489917 114489917 single base substitution T C upstream_gene_variant BRCA-EU 5 114490307 114490307 single base substitution G C intron_variant BRCA-EU 5 114490307 114490307 single base substitution G C upstream_gene_variant BRCA-EU 5 114491766 114491766 single base substitution A C intron_variant BRCA-EU 5 114491766 114491766 single base substitution A C upstream_gene_variant BRCA-EU 5 114492710 114492710 single base substitution G C intron_variant BRCA-EU 5 114492710 114492710 single base substitution G C upstream_gene_variant BRCA-EU 5 114495200 114495200 single base substitution G A intron_variant BRCA-EU 5 114495722 114495722 single base substitution A G intron_variant BRCA-EU 5 114496373 114496373 insertion of <=200bp - A intron_variant BRCA-EU 5 114497497 114497497 single base substitution G A intron_variant BRCA-EU 5 114497863 114497863 single base substitution C T intron_variant BRCA-EU 5 114498460 114498460 single base substitution C T intron_variant BRCA-EU 5 114498801 114498801 single base substitution C T intron_variant BRCA-EU 5 114499309 114499309 single base substitution G A exon_variant BRCA-EU 5 114499309 114499309 single base substitution G A intron_variant BRCA-EU 5 114499309 114499309 single base substitution G A synonymous_variant F56F 168C>T BRCA-EU 5 114499309 114499309 single base substitution G A synonymous_variant F68F 204C>T BRCA-EU 5 114500346 114500346 single base substitution A G intron_variant BRCA-EU 5 114500983 114500983 single base substitution C T intron_variant BRCA-EU 5 114501414 114501414 single base substitution C T intron_variant BRCA-EU 5 114503673 114503673 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 114503673 114503673 deletion of <=200bp T - intron_variant BRCA-EU 5 114504627 114504627 single base substitution G C downstream_gene_variant BRCA-EU 5 114504627 114504627 single base substitution G C intron_variant BRCA-EU 5 114505556 114505556 single base substitution C A 5_prime_UTR_variant BRCA-EU 5 114505556 114505556 single base substitution C A downstream_gene_variant BRCA-EU 5 114505556 114505556 single base substitution C A exon_variant BRCA-EU 5 114505556 114505556 single base substitution C A intron_variant BRCA-EU 5 114505556 114505556 single base substitution C A upstream_gene_variant BRCA-EU 5 114505576 114505576 single base substitution C A 5_prime_UTR_variant BRCA-EU 5 114505576 114505576 single base substitution C A downstream_gene_variant BRCA-EU 5 114505576 114505576 single base substitution C A intron_variant BRCA-EU 5 114505576 114505576 single base substitution C A upstream_gene_variant BRCA-EU 5 114505834 114505834 single base substitution C G downstream_gene_variant BRCA-EU 5 114505834 114505834 single base substitution C G intron_variant BRCA-EU 5 114505834 114505834 single base substitution C G upstream_gene_variant BRCA-EU 5 114505893 114505893 single base substitution G A downstream_gene_variant BRCA-EU 5 114505893 114505893 single base substitution G A intron_variant BRCA-EU 5 114505893 114505893 single base substitution G A upstream_gene_variant BRCA-EU 5 114506013 114506013 single base substitution G A downstream_gene_variant BRCA-EU 5 114506013 114506013 single base substitution G A intron_variant BRCA-EU 5 114506013 114506013 single base substitution G A upstream_gene_variant BRCA-EU 5 114506686 114506686 single base substitution C T downstream_gene_variant BRCA-EU 5 114506686 114506686 single base substitution C T intron_variant BRCA-EU 5 114506686 114506686 single base substitution C T upstream_gene_variant BRCA-EU 5 114507078 114507078 single base substitution G A intron_variant BRCA-EU 5 114507078 114507078 single base substitution G A upstream_gene_variant BRCA-EU 5 114507293 114507293 single base substitution G A intron_variant BRCA-EU 5 114507293 114507293 single base substitution G A upstream_gene_variant BRCA-EU 5 114508481 114508481 single base substitution C G downstream_gene_variant BRCA-EU 5 114508481 114508481 single base substitution C G intron_variant BRCA-EU 5 114508481 114508481 single base substitution C G upstream_gene_variant BRCA-EU 5 114509349 114509349 single base substitution A G downstream_gene_variant BRCA-EU 5 114509349 114509349 single base substitution A G intron_variant BRCA-EU 5 114509349 114509349 single base substitution A G upstream_gene_variant BRCA-EU 5 114509495 114509495 single base substitution T A downstream_gene_variant BRCA-EU 5 114509495 114509495 single base substitution T A intron_variant BRCA-EU 5 114509495 114509495 single base substitution T A upstream_gene_variant BRCA-EU 5 114509637 114509637 single base substitution C T downstream_gene_variant BRCA-EU 5 114509637 114509637 single base substitution C T intron_variant BRCA-EU 5 114509637 114509637 single base substitution C T upstream_gene_variant BRCA-EU 5 114511214 114511214 single base substitution C T downstream_gene_variant BRCA-EU 5 114511214 114511214 single base substitution C T intron_variant BRCA-EU 5 114511214 114511214 single base substitution C T upstream_gene_variant BRCA-EU 5 114511823 114511823 insertion of <=200bp - A downstream_gene_variant BRCA-EU 5 114511823 114511823 insertion of <=200bp - A intron_variant BRCA-EU 5 114511823 114511823 insertion of <=200bp - A upstream_gene_variant BRCA-EU 5 114512035 114512038 deletion of <=200bp GTAA - downstream_gene_variant BRCA-EU 5 114512035 114512038 deletion of <=200bp GTAA - intron_variant BRCA-EU 5 114512035 114512038 deletion of <=200bp GTAA - upstream_gene_variant BRCA-EU 5 114512903 114512903 single base substitution T G 3_prime_UTR_variant BRCA-EU 5 114512903 114512903 single base substitution T G intron_variant BRCA-EU 5 114512903 114512903 single base substitution T G upstream_gene_variant BRCA-EU 5 114513148 114513148 single base substitution T C 3_prime_UTR_variant BRCA-EU 5 114513148 114513148 single base substitution T C intron_variant BRCA-EU 5 114513148 114513148 single base substitution T C upstream_gene_variant BRCA-EU 5 114514695 114514695 single base substitution A T intron_variant BRCA-EU 5 114514695 114514695 single base substitution A T upstream_gene_variant BRCA-EU 5 114516213 114516213 single base substitution T C 5_prime_UTR_variant BRCA-EU 5 114516213 114516213 single base substitution T C upstream_gene_variant BRCA-EU 5 114516540 114516540 single base substitution A G upstream_gene_variant BRCA-EU 5 114517238 114517238 single base substitution G A upstream_gene_variant BRCA-EU 5 114518114 114518114 deletion of <=200bp T - upstream_gene_variant BRCA-EU 5 114518705 114518705 single base substitution T C upstream_gene_variant BRCA-EU 5 114519684 114519684 single base substitution G T upstream_gene_variant BRCA-FR 5 114456210 114456210 single base substitution G A downstream_gene_variant BRCA-FR 5 114472065 114472065 single base substitution G T downstream_gene_variant BRCA-FR 5 114472065 114472065 single base substitution G T intron_variant BRCA-FR 5 114476114 114476114 single base substitution T C downstream_gene_variant BRCA-FR 5 114476114 114476114 single base substitution T C intron_variant BRCA-FR 5 114477110 114477110 single base substitution G C intron_variant BRCA-FR 5 114478149 114478149 single base substitution A C downstream_gene_variant BRCA-FR 5 114478149 114478149 single base substitution A C intron_variant BRCA-FR 5 114479082 114479082 single base substitution A T downstream_gene_variant BRCA-FR 5 114479082 114479082 single base substitution A T intron_variant BRCA-FR 5 114481733 114481733 single base substitution C T downstream_gene_variant BRCA-FR 5 114481733 114481733 single base substitution C T intron_variant BRCA-FR 5 114482692 114482692 single base substitution G A downstream_gene_variant BRCA-FR 5 114482692 114482692 single base substitution G A intron_variant BRCA-FR 5 114485830 114485830 single base substitution C T intron_variant BRCA-FR 5 114489917 114489917 single base substitution T C intron_variant BRCA-FR 5 114489917 114489917 single base substitution T C upstream_gene_variant BRCA-FR 5 114500983 114500983 single base substitution C T intron_variant BRCA-FR 5 114505893 114505893 single base substitution G A downstream_gene_variant BRCA-FR 5 114505893 114505893 single base substitution G A intron_variant BRCA-FR 5 114505893 114505893 single base substitution G A upstream_gene_variant BRCA-FR 5 114509888 114509888 single base substitution G C downstream_gene_variant BRCA-FR 5 114509888 114509888 single base substitution G C exon_variant BRCA-FR 5 114509888 114509888 single base substitution G C intron_variant BRCA-FR 5 114509888 114509888 single base substitution G C upstream_gene_variant BRCA-FR 5 114514260 114514260 single base substitution G A intron_variant BRCA-FR 5 114514260 114514260 single base substitution G A upstream_gene_variant BRCA-UK 5 114468166 114468166 single base substitution G C intron_variant BRCA-UK 5 114486346 114486346 single base substitution C G intron_variant BRCA-US 5 114462415 114462416 deletion of <=200bp TA - frameshift_variant NR502 BRCA-US 5 114462415 114462416 deletion of <=200bp TA - frameshift_variant NR645 BRCA-US 5 114462415 114462416 deletion of <=200bp TA - frameshift_variant NR657 BRCA-US 5 114482989 114482989 single base substitution C T 5_prime_UTR_variant BRCA-US 5 114482989 114482989 single base substitution C T exon_variant BRCA-US 5 114482989 114482989 single base substitution C T missense_variant R122Q 365G>A BRCA-US 5 114482989 114482989 single base substitution C T missense_variant R132Q 395G>A BRCA-US 5 114482989 114482989 single base substitution C T missense_variant R134Q 401G>A BRCA-US 5 114499229 114499229 single base substitution C T exon_variant BRCA-US 5 114499229 114499229 single base substitution C T intron_variant BRCA-US 5 114499229 114499229 single base substitution C T missense_variant R83Q 248G>A BRCA-US 5 114499229 114499229 single base substitution C T missense_variant R95Q 284G>A BTCA-JP 5 114462099 114462099 single base substitution G T 3_prime_UTR_variant BTCA-JP 5 114462099 114462099 single base substitution G T downstream_gene_variant BTCA-JP 5 114466380 114466380 single base substitution C A stop_gained E426* 1276G>T BTCA-JP 5 114466380 114466380 single base substitution C A stop_gained E569* 1705G>T BTCA-JP 5 114466380 114466380 single base substitution C A stop_gained E581* 1741G>T BTCA-JP 5 114482989 114482989 single base substitution C T 5_prime_UTR_variant BTCA-JP 5 114482989 114482989 single base substitution C T exon_variant BTCA-JP 5 114482989 114482989 single base substitution C T missense_variant R122Q 365G>A BTCA-JP 5 114482989 114482989 single base substitution C T missense_variant R132Q 395G>A BTCA-JP 5 114482989 114482989 single base substitution C T missense_variant R134Q 401G>A BTCA-JP 5 114499309 114499309 single base substitution G A exon_variant BTCA-JP 5 114499309 114499309 single base substitution G A intron_variant BTCA-JP 5 114499309 114499309 single base substitution G A synonymous_variant F56F 168C>T BTCA-JP 5 114499309 114499309 single base substitution G A synonymous_variant F68F 204C>T CESC-US 5 114462253 114462253 single base substitution G A stop_gained Q557* 1669C>T CESC-US 5 114462253 114462253 single base substitution G A stop_gained Q700* 2098C>T CESC-US 5 114462253 114462253 single base substitution G A stop_gained Q712* 2134C>T CESC-US 5 114466485 114466485 single base substitution G A synonymous_variant L391L 1171C>T CESC-US 5 114466485 114466485 single base substitution G A synonymous_variant L534L 1600C>T CESC-US 5 114466485 114466485 single base substitution G A synonymous_variant L546L 1636C>T CLLE-ES 5 114460971 114460971 single base substitution T A 3_prime_UTR_variant CLLE-ES 5 114460971 114460971 single base substitution T A downstream_gene_variant CLLE-ES 5 114464151 114464151 single base substitution T A intron_variant CLLE-ES 5 114468346 114468346 single base substitution A G intron_variant CLLE-ES 5 114478969 114478969 single base substitution A C downstream_gene_variant CLLE-ES 5 114478969 114478969 single base substitution A C intron_variant CLLE-ES 5 114501702 114501702 single base substitution A G intron_variant CLLE-ES 5 114509894 114509894 single base substitution G A downstream_gene_variant CLLE-ES 5 114509894 114509894 single base substitution G A exon_variant CLLE-ES 5 114509894 114509894 single base substitution G A intron_variant CLLE-ES 5 114509894 114509894 single base substitution G A upstream_gene_variant CLLE-ES 5 114519128 114519128 single base substitution T C upstream_gene_variant COAD-US 5 114462267 114462267 single base substitution C T missense_variant G552D 1655G>A COAD-US 5 114462267 114462267 single base substitution C T missense_variant G695D 2084G>A COAD-US 5 114462267 114462267 single base substitution C T missense_variant G707D 2120G>A COAD-US 5 114466327 114466327 single base substitution T C synonymous_variant Q443Q 1329A>G COAD-US 5 114466327 114466327 single base substitution T C synonymous_variant Q586Q 1758A>G COAD-US 5 114466327 114466327 single base substitution T C synonymous_variant Q598Q 1794A>G COAD-US 5 114483066 114483066 single base substitution C T 5_prime_UTR_variant COAD-US 5 114483066 114483066 single base substitution C T exon_variant COAD-US 5 114483066 114483066 single base substitution C T synonymous_variant P106P 318G>A COAD-US 5 114483066 114483066 single base substitution C T synonymous_variant P108P 324G>A COAD-US 5 114483066 114483066 single base substitution C T synonymous_variant P96P 288G>A COAD-US 5 114499401 114499401 single base substitution C A exon_variant COAD-US 5 114499401 114499401 single base substitution C A intron_variant COAD-US 5 114499401 114499401 single base substitution C A stop_gained E26* 76G>T COAD-US 5 114499401 114499401 single base substitution C A stop_gained E38* 112G>T COCA-CN 5 114456162 114456162 single base substitution A T downstream_gene_variant COCA-CN 5 114469659 114469659 single base substitution A T missense_variant L323M 967T>A COCA-CN 5 114469659 114469659 single base substitution A T missense_variant L466M 1396T>A COCA-CN 5 114469659 114469659 single base substitution A T missense_variant L478M 1432T>A COCA-CN 5 114475699 114475699 single base substitution A G downstream_gene_variant COCA-CN 5 114475699 114475699 single base substitution A G intron_variant COCA-CN 5 114477068 114477068 single base substitution T G exon_variant COCA-CN 5 114477068 114477068 single base substitution T G missense_variant K104Q 310A>C COCA-CN 5 114477068 114477068 single base substitution T G missense_variant K247Q 739A>C COCA-CN 5 114477068 114477068 single base substitution T G missense_variant K259Q 775A>C COCA-CN 5 114477171 114477171 single base substitution G T intron_variant COCA-CN 5 114501284 114501284 single base substitution T A intron_variant COCA-CN 5 114501292 114501292 single base substitution A G intron_variant COCA-CN 5 114515793 114515793 single base substitution C A 5_prime_UTR_variant COCA-CN 5 114515793 114515793 single base substitution C A upstream_gene_variant ESAD-UK 5 114456496 114456496 single base substitution G A downstream_gene_variant ESAD-UK 5 114460437 114460437 single base substitution G A downstream_gene_variant ESAD-UK 5 114460829 114460829 single base substitution A G 3_prime_UTR_variant ESAD-UK 5 114460829 114460829 single base substitution A G downstream_gene_variant ESAD-UK 5 114461443 114461443 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 5 114461443 114461443 insertion of <=200bp - A downstream_gene_variant ESAD-UK 5 114461560 114461560 single base substitution A C 3_prime_UTR_variant ESAD-UK 5 114461560 114461560 single base substitution A C downstream_gene_variant ESAD-UK 5 114463787 114463787 insertion of <=200bp - G intron_variant ESAD-UK 5 114464145 114464145 deletion of <=200bp T - intron_variant ESAD-UK 5 114469662 114469662 single base substitution C T missense_variant D322N 964G>A ESAD-UK 5 114469662 114469662 single base substitution C T missense_variant D465N 1393G>A ESAD-UK 5 114469662 114469662 single base substitution C T missense_variant D477N 1429G>A ESAD-UK 5 114472157 114472157 single base substitution G A downstream_gene_variant ESAD-UK 5 114472157 114472157 single base substitution G A intron_variant ESAD-UK 5 114472289 114472289 single base substitution G A downstream_gene_variant ESAD-UK 5 114472289 114472289 single base substitution G A intron_variant ESAD-UK 5 114474671 114474671 single base substitution C A downstream_gene_variant ESAD-UK 5 114474671 114474671 single base substitution C A intron_variant ESAD-UK 5 114476811 114476811 single base substitution T C downstream_gene_variant ESAD-UK 5 114476811 114476811 single base substitution T C intron_variant ESAD-UK 5 114477720 114477720 single base substitution C T intron_variant ESAD-UK 5 114478889 114478889 single base substitution G A downstream_gene_variant ESAD-UK 5 114478889 114478889 single base substitution G A intron_variant ESAD-UK 5 114479592 114479592 single base substitution G A downstream_gene_variant ESAD-UK 5 114479592 114479592 single base substitution G A intron_variant ESAD-UK 5 114480486 114480486 single base substitution A G downstream_gene_variant ESAD-UK 5 114480486 114480486 single base substitution A G intron_variant ESAD-UK 5 114480685 114480685 single base substitution A C downstream_gene_variant ESAD-UK 5 114480685 114480685 single base substitution A C intron_variant ESAD-UK 5 114481114 114481114 single base substitution G C downstream_gene_variant ESAD-UK 5 114481114 114481114 single base substitution G C intron_variant ESAD-UK 5 114482627 114482627 single base substitution A G downstream_gene_variant ESAD-UK 5 114482627 114482627 single base substitution A G intron_variant ESAD-UK 5 114483011 114483011 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 5 114483011 114483011 single base substitution G A exon_variant ESAD-UK 5 114483011 114483011 single base substitution G A stop_gained R115* 343C>T ESAD-UK 5 114483011 114483011 single base substitution G A stop_gained R125* 373C>T ESAD-UK 5 114483011 114483011 single base substitution G A stop_gained R127* 379C>T ESAD-UK 5 114483219 114483219 single base substitution C T intron_variant ESAD-UK 5 114483252 114483252 single base substitution A T intron_variant ESAD-UK 5 114483823 114483823 single base substitution T G intron_variant ESAD-UK 5 114486324 114486324 single base substitution G A intron_variant ESAD-UK 5 114487584 114487584 single base substitution G A intron_variant ESAD-UK 5 114489820 114489820 single base substitution A C intron_variant ESAD-UK 5 114489820 114489820 single base substitution A C upstream_gene_variant ESAD-UK 5 114493126 114493126 single base substitution T C intron_variant ESAD-UK 5 114493126 114493126 single base substitution T C upstream_gene_variant ESAD-UK 5 114495903 114495903 deletion of <=200bp A - intron_variant ESAD-UK 5 114503936 114503936 single base substitution C T downstream_gene_variant ESAD-UK 5 114503936 114503936 single base substitution C T intron_variant ESAD-UK 5 114505783 114505783 single base substitution G A downstream_gene_variant ESAD-UK 5 114505783 114505783 single base substitution G A intron_variant ESAD-UK 5 114505783 114505783 single base substitution G A upstream_gene_variant ESAD-UK 5 114506391 114506391 single base substitution G A downstream_gene_variant ESAD-UK 5 114506391 114506391 single base substitution G A intron_variant ESAD-UK 5 114506391 114506391 single base substitution G A upstream_gene_variant ESAD-UK 5 114510810 114510810 deletion of <=200bp T - downstream_gene_variant ESAD-UK 5 114510810 114510810 deletion of <=200bp T - intron_variant ESAD-UK 5 114510810 114510810 deletion of <=200bp T - upstream_gene_variant ESAD-UK 5 114512534 114512534 single base substitution A C downstream_gene_variant ESAD-UK 5 114512534 114512534 single base substitution A C intron_variant ESAD-UK 5 114512534 114512534 single base substitution A C upstream_gene_variant ESAD-UK 5 114515484 114515484 single base substitution G T intron_variant ESAD-UK 5 114517248 114517248 single base substitution T A upstream_gene_variant ESAD-UK 5 114517256 114517256 single base substitution A G upstream_gene_variant ESAD-UK 5 114518282 114518282 single base substitution T C upstream_gene_variant ESAD-UK 5 114519048 114519048 insertion of <=200bp - C upstream_gene_variant ESAD-UK 5 114519735 114519735 single base substitution A G upstream_gene_variant ESCA-CN 5 114466316 114466316 single base substitution C T missense_variant R447H 1340G>A ESCA-CN 5 114466316 114466316 single base substitution C T missense_variant R590H 1769G>A ESCA-CN 5 114466316 114466316 single base substitution C T missense_variant R602H 1805G>A ESCA-CN 5 114499269 114499269 single base substitution G A exon_variant ESCA-CN 5 114499269 114499269 single base substitution G A intron_variant ESCA-CN 5 114499269 114499269 single base substitution G A stop_gained R70* 208C>T ESCA-CN 5 114499269 114499269 single base substitution G A stop_gained R82* 244C>T ESCA-CN 5 114506778 114506778 single base substitution G A downstream_gene_variant ESCA-CN 5 114506778 114506778 single base substitution G A intron_variant ESCA-CN 5 114506778 114506778 single base substitution G A upstream_gene_variant ESCA-CN 5 114513502 114513502 single base substitution C T intron_variant ESCA-CN 5 114513502 114513502 single base substitution C T missense_variant R44H 131G>A ESCA-CN 5 114513502 114513502 single base substitution C T upstream_gene_variant KIRC-US 5 114499350 114499350 single base substitution T A exon_variant KIRC-US 5 114499350 114499350 single base substitution T A intron_variant KIRC-US 5 114499350 114499350 single base substitution T A stop_gained K43* 127A>T KIRC-US 5 114499350 114499350 single base substitution T A stop_gained K55* 163A>T KIRC-US 5 114513529 114513529 single base substitution C T intron_variant KIRC-US 5 114513529 114513529 single base substitution C T missense_variant R35Q 104G>A KIRC-US 5 114513529 114513529 single base substitution C T upstream_gene_variant KIRP-US 5 114469835 114469835 single base substitution A G missense_variant V264A 791T>C KIRP-US 5 114469835 114469835 single base substitution A G missense_variant V407A 1220T>C KIRP-US 5 114469835 114469835 single base substitution A G missense_variant V419A 1256T>C KIRP-US 5 114515696 114515696 single base substitution G A 5_prime_UTR_variant KIRP-US 5 114515696 114515696 single base substitution G A synonymous_variant I13I 39C>T LAML-KR 5 114497434 114497434 single base substitution G A intron_variant LIAD-FR 5 114469615 114469615 single base substitution C T synonymous_variant K337K 1011G>A LIAD-FR 5 114469615 114469615 single base substitution C T synonymous_variant K480K 1440G>A LIAD-FR 5 114469615 114469615 single base substitution C T synonymous_variant K492K 1476G>A LICA-CN 5 114515702 114515702 single base substitution G A 5_prime_UTR_variant LICA-CN 5 114515702 114515702 single base substitution G A synonymous_variant G11G 33C>T LICA-FR 5 114466308 114466308 single base substitution G T synonymous_variant R450R 1348C>A LICA-FR 5 114466308 114466308 single base substitution G T synonymous_variant R593R 1777C>A LICA-FR 5 114466308 114466308 single base substitution G T synonymous_variant R605R 1813C>A LICA-FR 5 114472705 114472705 deletion of <=200bp A - downstream_gene_variant LICA-FR 5 114472705 114472705 deletion of <=200bp A - frameshift_variant F258 LICA-FR 5 114472705 114472705 deletion of <=200bp A - frameshift_variant F401 LICA-FR 5 114472705 114472705 deletion of <=200bp A - frameshift_variant F413 LICA-FR 5 114499407 114499407 single base substitution A G exon_variant LICA-FR 5 114499407 114499407 single base substitution A G intron_variant LICA-FR 5 114499407 114499407 single base substitution A G missense_variant C24R 70T>C LICA-FR 5 114499407 114499407 single base substitution A G missense_variant C36R 106T>C LICA-FR 5 114508109 114508109 single base substitution C G downstream_gene_variant LICA-FR 5 114508109 114508109 single base substitution C G intron_variant LICA-FR 5 114508109 114508109 single base substitution C G upstream_gene_variant LIHC-US 5 114462308 114462308 single base substitution C T synonymous_variant V538V 1614G>A LIHC-US 5 114462308 114462308 single base substitution C T synonymous_variant V681V 2043G>A LIHC-US 5 114462308 114462308 single base substitution C T synonymous_variant V693V 2079G>A LIHC-US 5 114506845 114506845 single base substitution G T exon_variant LIHC-US 5 114506845 114506845 single base substitution G T intron_variant LIHC-US 5 114506845 114506845 single base substitution G T missense_variant D46E 138C>A LIHC-US 5 114506845 114506845 single base substitution G T upstream_gene_variant LIHC-US 5 114506870 114506870 single base substitution G A exon_variant LIHC-US 5 114506870 114506870 single base substitution G A intron_variant LIHC-US 5 114506870 114506870 single base substitution G A missense_variant T38M 113C>T LIHC-US 5 114506870 114506870 single base substitution G A upstream_gene_variant LINC-JP 5 114467916 114467916 single base substitution C T intron_variant LINC-JP 5 114469368 114469368 single base substitution T A intron_variant LINC-JP 5 114469527 114469527 single base substitution T C intron_variant LINC-JP 5 114477283 114477283 single base substitution A G intron_variant LINC-JP 5 114491767 114491767 single base substitution C A intron_variant LINC-JP 5 114491767 114491767 single base substitution C A upstream_gene_variant LINC-JP 5 114493477 114493477 single base substitution G A intron_variant LINC-JP 5 114493477 114493477 single base substitution G A upstream_gene_variant LINC-JP 5 114496989 114496989 single base substitution T G intron_variant LINC-JP 5 114498147 114498147 single base substitution A T intron_variant LINC-JP 5 114499309 114499309 single base substitution G A exon_variant LINC-JP 5 114499309 114499309 single base substitution G A intron_variant LINC-JP 5 114499309 114499309 single base substitution G A synonymous_variant F56F 168C>T LINC-JP 5 114499309 114499309 single base substitution G A synonymous_variant F68F 204C>T LINC-JP 5 114504346 114504346 single base substitution T C downstream_gene_variant LINC-JP 5 114504346 114504346 single base substitution T C intron_variant LINC-JP 5 114505525 114505525 single base substitution G A 5_prime_UTR_variant LINC-JP 5 114505525 114505525 single base substitution G A downstream_gene_variant LINC-JP 5 114505525 114505525 single base substitution G A exon_variant LINC-JP 5 114505525 114505525 single base substitution G A intron_variant LINC-JP 5 114505525 114505525 single base substitution G A upstream_gene_variant LINC-JP 5 114520536 114520536 single base substitution G A upstream_gene_variant LIRI-JP 5 114458651 114458651 single base substitution T C downstream_gene_variant LIRI-JP 5 114459077 114459077 single base substitution G C downstream_gene_variant LIRI-JP 5 114459760 114459760 single base substitution A G downstream_gene_variant LIRI-JP 5 114460033 114460033 single base substitution T C downstream_gene_variant LIRI-JP 5 114461342 114461342 single base substitution T C 3_prime_UTR_variant LIRI-JP 5 114461342 114461342 single base substitution T C downstream_gene_variant LIRI-JP 5 114465000 114465000 single base substitution C A intron_variant LIRI-JP 5 114466465 114466465 single base substitution G C missense_variant I397M 1191C>G LIRI-JP 5 114466465 114466465 single base substitution G C missense_variant I540M 1620C>G LIRI-JP 5 114466465 114466465 single base substitution G C missense_variant I552M 1656C>G LIRI-JP 5 114466828 114466828 single base substitution T C intron_variant LIRI-JP 5 114466881 114466881 single base substitution T A intron_variant LIRI-JP 5 114467224 114467224 single base substitution T A intron_variant LIRI-JP 5 114473190 114473190 single base substitution T C downstream_gene_variant LIRI-JP 5 114473190 114473190 single base substitution T C missense_variant K176E 526A>G LIRI-JP 5 114473190 114473190 single base substitution T C missense_variant K319E 955A>G LIRI-JP 5 114473190 114473190 single base substitution T C missense_variant K331E 991A>G LIRI-JP 5 114476801 114476801 single base substitution A G downstream_gene_variant LIRI-JP 5 114476801 114476801 single base substitution A G intron_variant LIRI-JP 5 114478014 114478014 single base substitution A G downstream_gene_variant LIRI-JP 5 114478014 114478014 single base substitution A G intron_variant LIRI-JP 5 114479259 114479259 single base substitution T C downstream_gene_variant LIRI-JP 5 114479259 114479259 single base substitution T C intron_variant LIRI-JP 5 114479721 114479721 single base substitution C A downstream_gene_variant LIRI-JP 5 114479721 114479721 single base substitution C A intron_variant LIRI-JP 5 114479722 114479722 single base substitution C A downstream_gene_variant LIRI-JP 5 114479722 114479722 single base substitution C A intron_variant LIRI-JP 5 114479870 114479870 single base substitution C T downstream_gene_variant LIRI-JP 5 114479870 114479870 single base substitution C T intron_variant LIRI-JP 5 114480040 114480040 single base substitution C A downstream_gene_variant LIRI-JP 5 114480040 114480040 single base substitution C A intron_variant LIRI-JP 5 114481804 114481804 single base substitution G A downstream_gene_variant LIRI-JP 5 114481804 114481804 single base substitution G A intron_variant LIRI-JP 5 114484595 114484595 single base substitution T G intron_variant LIRI-JP 5 114486396 114486396 single base substitution C T intron_variant LIRI-JP 5 114488105 114488105 single base substitution C A intron_variant LIRI-JP 5 114488238 114488238 single base substitution A G intron_variant LIRI-JP 5 114491233 114491233 single base substitution C A intron_variant LIRI-JP 5 114491233 114491233 single base substitution C A upstream_gene_variant LIRI-JP 5 114493618 114493618 single base substitution C A intron_variant LIRI-JP 5 114493618 114493618 single base substitution C A upstream_gene_variant LIRI-JP 5 114494275 114494275 single base substitution A G intron_variant LIRI-JP 5 114494275 114494275 single base substitution A G upstream_gene_variant LIRI-JP 5 114495200 114495200 single base substitution G A intron_variant LIRI-JP 5 114498861 114498861 single base substitution T C intron_variant LIRI-JP 5 114499051 114499051 single base substitution A G intron_variant LIRI-JP 5 114500711 114500711 single base substitution C T intron_variant LIRI-JP 5 114502136 114502136 single base substitution G T downstream_gene_variant LIRI-JP 5 114502136 114502136 single base substitution G T intron_variant LIRI-JP 5 114502878 114502878 single base substitution A G downstream_gene_variant LIRI-JP 5 114502878 114502878 single base substitution A G intron_variant LIRI-JP 5 114506955 114506955 single base substitution A G intron_variant LIRI-JP 5 114506955 114506955 single base substitution A G upstream_gene_variant LIRI-JP 5 114507829 114507829 single base substitution T C downstream_gene_variant LIRI-JP 5 114507829 114507829 single base substitution T C intron_variant LIRI-JP 5 114507829 114507829 single base substitution T C upstream_gene_variant LIRI-JP 5 114510098 114510098 single base substitution A C downstream_gene_variant LIRI-JP 5 114510098 114510098 single base substitution A C intron_variant LIRI-JP 5 114510098 114510098 single base substitution A C upstream_gene_variant LIRI-JP 5 114513992 114513992 single base substitution A G intron_variant LIRI-JP 5 114513992 114513992 single base substitution A G upstream_gene_variant LIRI-JP 5 114516983 114516983 single base substitution T C upstream_gene_variant LIRI-JP 5 114518023 114518023 single base substitution C T upstream_gene_variant LIRI-JP 5 114518876 114518876 single base substitution G T upstream_gene_variant LIRI-JP 5 114519742 114519742 single base substitution T C upstream_gene_variant LIRI-JP 5 114520125 114520125 single base substitution T C upstream_gene_variant LIRI-JP 5 114520219 114520219 single base substitution T C upstream_gene_variant LIRI-JP 5 114521168 114521168 single base substitution A G upstream_gene_variant LUSC-KR 5 114458935 114458935 single base substitution C A downstream_gene_variant LUSC-KR 5 114459080 114459080 single base substitution C G downstream_gene_variant LUSC-KR 5 114459842 114459842 single base substitution C A downstream_gene_variant LUSC-KR 5 114460539 114460539 single base substitution T C 3_prime_UTR_variant LUSC-KR 5 114460539 114460539 single base substitution T C downstream_gene_variant LUSC-KR 5 114461965 114461965 single base substitution G C 3_prime_UTR_variant LUSC-KR 5 114461965 114461965 single base substitution G C downstream_gene_variant LUSC-KR 5 114465180 114465180 single base substitution G A intron_variant LUSC-KR 5 114466713 114466713 single base substitution C A intron_variant LUSC-KR 5 114469724 114469724 single base substitution T C missense_variant N301S 902A>G LUSC-KR 5 114469724 114469724 single base substitution T C missense_variant N444S 1331A>G LUSC-KR 5 114469724 114469724 single base substitution T C missense_variant N456S 1367A>G LUSC-KR 5 114469851 114469851 single base substitution G A splice_region_variant LUSC-KR 5 114471641 114471641 single base substitution T C intron_variant LUSC-KR 5 114474718 114474718 single base substitution G A downstream_gene_variant LUSC-KR 5 114474718 114474718 single base substitution G A intron_variant LUSC-KR 5 114475299 114475299 single base substitution T A downstream_gene_variant LUSC-KR 5 114475299 114475299 single base substitution T A intron_variant LUSC-KR 5 114476133 114476133 single base substitution A G downstream_gene_variant LUSC-KR 5 114476133 114476133 single base substitution A G intron_variant LUSC-KR 5 114479691 114479691 single base substitution T C downstream_gene_variant LUSC-KR 5 114479691 114479691 single base substitution T C intron_variant LUSC-KR 5 114479717 114479717 single base substitution G T downstream_gene_variant LUSC-KR 5 114479717 114479717 single base substitution G T intron_variant LUSC-KR 5 114480029 114480029 single base substitution G C downstream_gene_variant LUSC-KR 5 114480029 114480029 single base substitution G C intron_variant LUSC-KR 5 114480364 114480364 single base substitution C T downstream_gene_variant LUSC-KR 5 114480364 114480364 single base substitution C T exon_variant LUSC-KR 5 114480364 114480364 single base substitution C T synonymous_variant L222L 666G>A LUSC-KR 5 114480364 114480364 single base substitution C T synonymous_variant L234L 702G>A LUSC-KR 5 114480364 114480364 single base substitution C T synonymous_variant L79L 237G>A LUSC-KR 5 114480662 114480662 single base substitution T C downstream_gene_variant LUSC-KR 5 114480662 114480662 single base substitution T C intron_variant LUSC-KR 5 114484256 114484256 single base substitution C T intron_variant LUSC-KR 5 114484261 114484261 single base substitution C A intron_variant LUSC-KR 5 114488919 114488919 single base substitution C G intron_variant LUSC-KR 5 114491057 114491057 single base substitution A G intron_variant LUSC-KR 5 114491057 114491057 single base substitution A G upstream_gene_variant LUSC-KR 5 114491162 114491162 single base substitution C G intron_variant LUSC-KR 5 114491162 114491162 single base substitution C G upstream_gene_variant LUSC-KR 5 114492857 114492857 single base substitution A G intron_variant LUSC-KR 5 114492857 114492857 single base substitution A G upstream_gene_variant LUSC-KR 5 114493282 114493282 single base substitution T A intron_variant LUSC-KR 5 114493282 114493282 single base substitution T A upstream_gene_variant LUSC-KR 5 114493410 114493410 single base substitution G A intron_variant LUSC-KR 5 114493410 114493410 single base substitution G A upstream_gene_variant LUSC-KR 5 114494067 114494067 single base substitution C G intron_variant LUSC-KR 5 114494067 114494067 single base substitution C G upstream_gene_variant LUSC-KR 5 114494195 114494195 single base substitution C G intron_variant LUSC-KR 5 114494195 114494195 single base substitution C G upstream_gene_variant LUSC-KR 5 114494297 114494297 single base substitution G C intron_variant LUSC-KR 5 114494297 114494297 single base substitution G C upstream_gene_variant LUSC-KR 5 114495850 114495850 single base substitution A G intron_variant LUSC-KR 5 114498470 114498470 single base substitution G C intron_variant LUSC-KR 5 114499796 114499796 single base substitution C G intron_variant LUSC-KR 5 114502730 114502730 single base substitution T C downstream_gene_variant LUSC-KR 5 114502730 114502730 single base substitution T C intron_variant LUSC-KR 5 114504427 114504427 single base substitution G T downstream_gene_variant LUSC-KR 5 114504427 114504427 single base substitution G T intron_variant LUSC-KR 5 114504969 114504969 single base substitution A T downstream_gene_variant LUSC-KR 5 114504969 114504969 single base substitution A T intron_variant LUSC-KR 5 114505982 114505982 single base substitution G T downstream_gene_variant LUSC-KR 5 114505982 114505982 single base substitution G T intron_variant LUSC-KR 5 114505982 114505982 single base substitution G T upstream_gene_variant LUSC-KR 5 114506166 114506166 single base substitution G T downstream_gene_variant LUSC-KR 5 114506166 114506166 single base substitution G T intron_variant LUSC-KR 5 114506166 114506166 single base substitution G T upstream_gene_variant LUSC-KR 5 114507150 114507150 single base substitution T C intron_variant LUSC-KR 5 114507150 114507150 single base substitution T C upstream_gene_variant LUSC-KR 5 114511464 114511464 single base substitution C A downstream_gene_variant LUSC-KR 5 114511464 114511464 single base substitution C A intron_variant LUSC-KR 5 114511464 114511464 single base substitution C A upstream_gene_variant LUSC-KR 5 114512777 114512777 single base substitution C A downstream_gene_variant LUSC-KR 5 114512777 114512777 single base substitution C A intron_variant LUSC-KR 5 114512777 114512777 single base substitution C A upstream_gene_variant LUSC-KR 5 114513891 114513891 single base substitution C T intron_variant LUSC-KR 5 114513891 114513891 single base substitution C T upstream_gene_variant LUSC-KR 5 114515223 114515223 single base substitution C T intron_variant LUSC-KR 5 114518027 114518027 single base substitution A G upstream_gene_variant LUSC-KR 5 114519491 114519491 single base substitution C A upstream_gene_variant LUSC-US 5 114462205 114462205 single base substitution T C missense_variant M573V 1717A>G LUSC-US 5 114462205 114462205 single base substitution T C missense_variant M716V 2146A>G LUSC-US 5 114462205 114462205 single base substitution T C missense_variant M728V 2182A>G LUSC-US 5 114469806 114469806 single base substitution C A missense_variant V274F 820G>T LUSC-US 5 114469806 114469806 single base substitution C A missense_variant V417F 1249G>T LUSC-US 5 114469806 114469806 single base substitution C A missense_variant V429F 1285G>T LUSC-US 5 114499374 114499374 single base substitution G A exon_variant LUSC-US 5 114499374 114499374 single base substitution G A intron_variant LUSC-US 5 114499374 114499374 single base substitution G A missense_variant P35S 103C>T LUSC-US 5 114499374 114499374 single base substitution G A missense_variant P47S 139C>T MALY-DE 5 114465352 114465352 insertion of <=200bp - A intron_variant MALY-DE 5 114471983 114471983 single base substitution T C intron_variant MALY-DE 5 114473449 114473449 deletion of <=200bp A - downstream_gene_variant MALY-DE 5 114473449 114473449 deletion of <=200bp A - intron_variant MALY-DE 5 114474522 114474522 insertion of <=200bp - T downstream_gene_variant MALY-DE 5 114474522 114474522 insertion of <=200bp - T intron_variant MALY-DE 5 114477474 114477475 deletion of <=200bp CA - intron_variant MALY-DE 5 114485075 114485075 single base substitution C T intron_variant MALY-DE 5 114491599 114491599 single base substitution A C intron_variant MALY-DE 5 114491599 114491599 single base substitution A C upstream_gene_variant MALY-DE 5 114495730 114495730 single base substitution A G intron_variant MALY-DE 5 114496356 114496356 single base substitution G A intron_variant MALY-DE 5 114498600 114498600 single base substitution T G intron_variant MALY-DE 5 114509220 114509221 deletion of <=200bp TG - downstream_gene_variant MALY-DE 5 114509220 114509221 deletion of <=200bp TG - intron_variant MALY-DE 5 114509220 114509221 deletion of <=200bp TG - upstream_gene_variant MALY-DE 5 114510559 114510561 deletion of <=200bp GAA - downstream_gene_variant MALY-DE 5 114510559 114510561 deletion of <=200bp GAA - intron_variant MALY-DE 5 114510559 114510561 deletion of <=200bp GAA - upstream_gene_variant MALY-DE 5 114512086 114512086 single base substitution A T downstream_gene_variant MALY-DE 5 114512086 114512086 single base substitution A T intron_variant MALY-DE 5 114512086 114512086 single base substitution A T upstream_gene_variant MALY-DE 5 114515771 114515771 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 5 114515771 114515771 single base substitution G A upstream_gene_variant MALY-DE 5 114520570 114520570 single base substitution A G upstream_gene_variant MELA-AU 5 114455491 114455491 single base substitution G A downstream_gene_variant MELA-AU 5 114455585 114455585 single base substitution G A downstream_gene_variant MELA-AU 5 114455806 114455806 single base substitution C A downstream_gene_variant MELA-AU 5 114455883 114455883 single base substitution G A downstream_gene_variant MELA-AU 5 114455951 114455951 single base substitution G A downstream_gene_variant MELA-AU 5 114457040 114457040 single base substitution G A downstream_gene_variant MELA-AU 5 114457250 114457250 single base substitution G A downstream_gene_variant MELA-AU 5 114457404 114457404 single base substitution G A downstream_gene_variant MELA-AU 5 114457428 114457428 single base substitution G A downstream_gene_variant MELA-AU 5 114457453 114457453 single base substitution G A downstream_gene_variant MELA-AU 5 114457475 114457475 single base substitution G A downstream_gene_variant MELA-AU 5 114457560 114457560 single base substitution G A downstream_gene_variant MELA-AU 5 114457616 114457616 single base substitution G A downstream_gene_variant MELA-AU 5 114457668 114457668 single base substitution C T downstream_gene_variant MELA-AU 5 114457780 114457780 single base substitution A T downstream_gene_variant MELA-AU 5 114457985 114457985 single base substitution C T downstream_gene_variant MELA-AU 5 114458054 114458054 single base substitution C T downstream_gene_variant MELA-AU 5 114458141 114458141 single base substitution G A downstream_gene_variant MELA-AU 5 114458252 114458252 single base substitution C T downstream_gene_variant MELA-AU 5 114458305 114458305 single base substitution G A downstream_gene_variant MELA-AU 5 114458622 114458622 single base substitution C T downstream_gene_variant MELA-AU 5 114458721 114458721 single base substitution G A downstream_gene_variant MELA-AU 5 114458954 114458954 single base substitution G A downstream_gene_variant MELA-AU 5 114459115 114459115 single base substitution T G downstream_gene_variant MELA-AU 5 114459156 114459156 single base substitution G T downstream_gene_variant MELA-AU 5 114459197 114459197 single base substitution T G downstream_gene_variant MELA-AU 5 114459325 114459325 single base substitution C T downstream_gene_variant MELA-AU 5 114459404 114459404 single base substitution G A downstream_gene_variant MELA-AU 5 114459631 114459631 single base substitution G A downstream_gene_variant MELA-AU 5 114459639 114459639 single base substitution C T downstream_gene_variant MELA-AU 5 114459677 114459677 single base substitution G A downstream_gene_variant MELA-AU 5 114459845 114459845 single base substitution A T downstream_gene_variant MELA-AU 5 114461418 114461418 single base substitution G A 3_prime_UTR_variant MELA-AU 5 114461418 114461418 single base substitution G A downstream_gene_variant MELA-AU 5 114461420 114461420 single base substitution A T 3_prime_UTR_variant MELA-AU 5 114461420 114461420 single base substitution A T downstream_gene_variant MELA-AU 5 114461989 114461989 single base substitution G A 3_prime_UTR_variant MELA-AU 5 114461989 114461989 single base substitution G A downstream_gene_variant MELA-AU 5 114462197 114462197 single base substitution C T 3_prime_UTR_variant MELA-AU 5 114462197 114462197 single base substitution C T downstream_gene_variant MELA-AU 5 114463172 114463172 single base substitution C T intron_variant MELA-AU 5 114463799 114463799 single base substitution G A intron_variant MELA-AU 5 114463824 114463824 single base substitution C T intron_variant MELA-AU 5 114463933 114463933 single base substitution G A intron_variant MELA-AU 5 114463974 114463974 single base substitution G A intron_variant MELA-AU 5 114464092 114464092 single base substitution T C intron_variant MELA-AU 5 114465086 114465086 single base substitution C T intron_variant MELA-AU 5 114465239 114465239 single base substitution G A intron_variant MELA-AU 5 114465241 114465241 single base substitution G A intron_variant MELA-AU 5 114465488 114465488 single base substitution G A intron_variant MELA-AU 5 114465602 114465602 single base substitution G A intron_variant MELA-AU 5 114466063 114466063 single base substitution G A intron_variant MELA-AU 5 114466515 114466515 single base substitution G A missense_variant R381C 1141C>T MELA-AU 5 114466515 114466515 single base substitution G A missense_variant R524C 1570C>T MELA-AU 5 114466515 114466515 single base substitution G A missense_variant R536C 1606C>T MELA-AU 5 114466697 114466697 single base substitution G A intron_variant MELA-AU 5 114466935 114466935 single base substitution A G intron_variant MELA-AU 5 114467507 114467507 single base substitution G A intron_variant MELA-AU 5 114467601 114467601 single base substitution G C intron_variant MELA-AU 5 114467651 114467651 single base substitution G A intron_variant MELA-AU 5 114467666 114467666 single base substitution C T intron_variant MELA-AU 5 114467802 114467802 single base substitution G A intron_variant MELA-AU 5 114467857 114467857 single base substitution G A intron_variant MELA-AU 5 114467991 114467991 single base substitution G A intron_variant MELA-AU 5 114468342 114468342 single base substitution G A intron_variant MELA-AU 5 114468545 114468545 single base substitution G A intron_variant MELA-AU 5 114468735 114468735 single base substitution G A intron_variant MELA-AU 5 114469014 114469014 single base substitution G A intron_variant MELA-AU 5 114469053 114469053 single base substitution G A intron_variant MELA-AU 5 114469141 114469141 single base substitution G A intron_variant MELA-AU 5 114469478 114469478 single base substitution G A intron_variant MELA-AU 5 114469557 114469557 single base substitution C T missense_variant V357I 1069G>A MELA-AU 5 114469557 114469557 single base substitution C T missense_variant V500I 1498G>A MELA-AU 5 114469557 114469557 single base substitution C T missense_variant V512I 1534G>A MELA-AU 5 114469759 114469759 single base substitution T C synonymous_variant K289K 867A>G MELA-AU 5 114469759 114469759 single base substitution T C synonymous_variant K432K 1296A>G MELA-AU 5 114469759 114469759 single base substitution T C synonymous_variant K444K 1332A>G MELA-AU 5 114469961 114469961 single base substitution C T intron_variant MELA-AU 5 114470153 114470153 single base substitution G A intron_variant MELA-AU 5 114470450 114470450 single base substitution G A intron_variant MELA-AU 5 114470650 114470650 single base substitution G A intron_variant MELA-AU 5 114470756 114470756 single base substitution G A intron_variant MELA-AU 5 114471361 114471361 single base substitution G A intron_variant MELA-AU 5 114471443 114471443 single base substitution G A intron_variant MELA-AU 5 114471680 114471680 single base substitution G A intron_variant MELA-AU 5 114471695 114471695 single base substitution G A intron_variant MELA-AU 5 114471710 114471710 single base substitution G A intron_variant MELA-AU 5 114471833 114471833 single base substitution T G intron_variant MELA-AU 5 114472002 114472002 single base substitution C A intron_variant MELA-AU 5 114472617 114472617 single base substitution T C downstream_gene_variant MELA-AU 5 114472617 114472617 single base substitution T C intron_variant MELA-AU 5 114472711 114472711 single base substitution G A downstream_gene_variant MELA-AU 5 114472711 114472711 single base substitution G A missense_variant S256F 767C>T MELA-AU 5 114472711 114472711 single base substitution G A missense_variant S399F 1196C>T MELA-AU 5 114472711 114472711 single base substitution G A missense_variant S411F 1232C>T MELA-AU 5 114472728 114472728 single base substitution T G downstream_gene_variant MELA-AU 5 114472728 114472728 single base substitution T G missense_variant E250D 750A>C MELA-AU 5 114472728 114472728 single base substitution T G missense_variant E393D 1179A>C MELA-AU 5 114472728 114472728 single base substitution T G missense_variant E405D 1215A>C MELA-AU 5 114473250 114473250 single base substitution C T downstream_gene_variant MELA-AU 5 114473250 114473250 single base substitution C T missense_variant E156K 466G>A MELA-AU 5 114473250 114473250 single base substitution C T missense_variant E299K 895G>A MELA-AU 5 114473250 114473250 single base substitution C T missense_variant E311K 931G>A MELA-AU 5 114473676 114473676 single base substitution G A downstream_gene_variant MELA-AU 5 114473676 114473676 single base substitution G A intron_variant MELA-AU 5 114474431 114474431 single base substitution G A downstream_gene_variant MELA-AU 5 114474431 114474431 single base substitution G A intron_variant MELA-AU 5 114474809 114474810 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 5 114474809 114474810 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 5 114474837 114474837 single base substitution A T downstream_gene_variant MELA-AU 5 114474837 114474837 single base substitution A T intron_variant MELA-AU 5 114474912 114474912 single base substitution G A downstream_gene_variant MELA-AU 5 114474912 114474912 single base substitution G A intron_variant MELA-AU 5 114474927 114474927 single base substitution C G downstream_gene_variant MELA-AU 5 114474927 114474927 single base substitution C G intron_variant MELA-AU 5 114475040 114475040 single base substitution G A downstream_gene_variant MELA-AU 5 114475040 114475040 single base substitution G A intron_variant MELA-AU 5 114475463 114475463 single base substitution G A downstream_gene_variant MELA-AU 5 114475463 114475463 single base substitution G A intron_variant MELA-AU 5 114475481 114475481 single base substitution G A downstream_gene_variant MELA-AU 5 114475481 114475481 single base substitution G A intron_variant MELA-AU 5 114475656 114475656 single base substitution A C downstream_gene_variant MELA-AU 5 114475656 114475656 single base substitution A C intron_variant MELA-AU 5 114475692 114475692 single base substitution A G downstream_gene_variant MELA-AU 5 114475692 114475692 single base substitution A G intron_variant MELA-AU 5 114475755 114475755 single base substitution G A downstream_gene_variant MELA-AU 5 114475755 114475755 single base substitution G A intron_variant MELA-AU 5 114475779 114475779 single base substitution G A downstream_gene_variant MELA-AU 5 114475779 114475779 single base substitution G A intron_variant MELA-AU 5 114475821 114475821 single base substitution G A downstream_gene_variant MELA-AU 5 114475821 114475821 single base substitution G A intron_variant MELA-AU 5 114475831 114475831 single base substitution T A downstream_gene_variant MELA-AU 5 114475831 114475831 single base substitution T A intron_variant MELA-AU 5 114475997 114475997 single base substitution G A downstream_gene_variant MELA-AU 5 114475997 114475997 single base substitution G A intron_variant MELA-AU 5 114476581 114476581 single base substitution G A downstream_gene_variant MELA-AU 5 114476581 114476581 single base substitution G A intron_variant MELA-AU 5 114476665 114476665 single base substitution A G downstream_gene_variant MELA-AU 5 114476665 114476665 single base substitution A G intron_variant MELA-AU 5 114477071 114477071 single base substitution C T missense_variant E103K 307G>A MELA-AU 5 114477071 114477071 single base substitution C T missense_variant E246K 736G>A MELA-AU 5 114477071 114477071 single base substitution C T missense_variant E258K 772G>A MELA-AU 5 114477071 114477071 single base substitution C T splice_region_variant MELA-AU 5 114477152 114477152 single base substitution G A intron_variant MELA-AU 5 114477295 114477295 single base substitution G A intron_variant MELA-AU 5 114478586 114478586 single base substitution C T downstream_gene_variant MELA-AU 5 114478586 114478586 single base substitution C T intron_variant MELA-AU 5 114478746 114478746 single base substitution G A downstream_gene_variant MELA-AU 5 114478746 114478746 single base substitution G A intron_variant MELA-AU 5 114478804 114478804 single base substitution C T downstream_gene_variant MELA-AU 5 114478804 114478804 single base substitution C T intron_variant MELA-AU 5 114478854 114478854 single base substitution T C downstream_gene_variant MELA-AU 5 114478854 114478854 single base substitution T C intron_variant MELA-AU 5 114479394 114479394 single base substitution G A downstream_gene_variant MELA-AU 5 114479394 114479394 single base substitution G A intron_variant MELA-AU 5 114479461 114479461 single base substitution G A downstream_gene_variant MELA-AU 5 114479461 114479461 single base substitution G A intron_variant MELA-AU 5 114479510 114479510 single base substitution G A downstream_gene_variant MELA-AU 5 114479510 114479510 single base substitution G A intron_variant MELA-AU 5 114479631 114479631 single base substitution G A downstream_gene_variant MELA-AU 5 114479631 114479631 single base substitution G A intron_variant MELA-AU 5 114479878 114479878 single base substitution A T downstream_gene_variant MELA-AU 5 114479878 114479878 single base substitution A T intron_variant MELA-AU 5 114480029 114480029 single base substitution G A downstream_gene_variant MELA-AU 5 114480029 114480029 single base substitution G A intron_variant MELA-AU 5 114480200 114480200 single base substitution G A downstream_gene_variant MELA-AU 5 114480200 114480200 single base substitution G A intron_variant MELA-AU 5 114480766 114480766 single base substitution G A downstream_gene_variant MELA-AU 5 114480766 114480766 single base substitution G A intron_variant MELA-AU 5 114481040 114481040 single base substitution C T downstream_gene_variant MELA-AU 5 114481040 114481040 single base substitution C T intron_variant MELA-AU 5 114481101 114481101 single base substitution G A downstream_gene_variant MELA-AU 5 114481101 114481101 single base substitution G A intron_variant MELA-AU 5 114481202 114481202 single base substitution A G downstream_gene_variant MELA-AU 5 114481202 114481202 single base substitution A G intron_variant MELA-AU 5 114481242 114481242 single base substitution G A downstream_gene_variant MELA-AU 5 114481242 114481242 single base substitution G A intron_variant MELA-AU 5 114481339 114481339 single base substitution T G downstream_gene_variant MELA-AU 5 114481339 114481339 single base substitution T G intron_variant MELA-AU 5 114481421 114481421 single base substitution G A downstream_gene_variant MELA-AU 5 114481421 114481421 single base substitution G A intron_variant MELA-AU 5 114481723 114481723 single base substitution C T downstream_gene_variant MELA-AU 5 114481723 114481723 single base substitution C T intron_variant MELA-AU 5 114481776 114481776 single base substitution T C downstream_gene_variant MELA-AU 5 114481776 114481776 single base substitution T C intron_variant MELA-AU 5 114481940 114481940 single base substitution C T downstream_gene_variant MELA-AU 5 114481940 114481940 single base substitution C T intron_variant MELA-AU 5 114482097 114482097 single base substitution A T downstream_gene_variant MELA-AU 5 114482097 114482097 single base substitution A T intron_variant MELA-AU 5 114482906 114482906 single base substitution G A exon_variant MELA-AU 5 114482906 114482906 single base substitution G A missense_variant P150S 448C>T MELA-AU 5 114482906 114482906 single base substitution G A missense_variant P160S 478C>T MELA-AU 5 114482906 114482906 single base substitution G A missense_variant P162S 484C>T MELA-AU 5 114482906 114482906 single base substitution G A missense_variant P7S 19C>T MELA-AU 5 114482954 114482954 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 5 114482954 114482954 single base substitution G A exon_variant MELA-AU 5 114482954 114482954 single base substitution G A missense_variant R134C 400C>T MELA-AU 5 114482954 114482954 single base substitution G A missense_variant R144C 430C>T MELA-AU 5 114482954 114482954 single base substitution G A missense_variant R146C 436C>T MELA-AU 5 114482989 114482989 single base substitution C T 5_prime_UTR_variant MELA-AU 5 114482989 114482989 single base substitution C T exon_variant MELA-AU 5 114482989 114482989 single base substitution C T missense_variant R122Q 365G>A MELA-AU 5 114482989 114482989 single base substitution C T missense_variant R132Q 395G>A MELA-AU 5 114482989 114482989 single base substitution C T missense_variant R134Q 401G>A MELA-AU 5 114483051 114483051 single base substitution G A 5_prime_UTR_variant MELA-AU 5 114483051 114483051 single base substitution G A exon_variant MELA-AU 5 114483051 114483051 single base substitution G A synonymous_variant F101F 303C>T MELA-AU 5 114483051 114483051 single base substitution G A synonymous_variant F111F 333C>T MELA-AU 5 114483051 114483051 single base substitution G A synonymous_variant F113F 339C>T MELA-AU 5 114483331 114483331 single base substitution A G intron_variant MELA-AU 5 114483512 114483512 single base substitution A G intron_variant MELA-AU 5 114483818 114483818 single base substitution G C intron_variant MELA-AU 5 114483991 114483991 single base substitution C T intron_variant MELA-AU 5 114484057 114484057 single base substitution T C intron_variant MELA-AU 5 114484773 114484773 single base substitution C T intron_variant MELA-AU 5 114484984 114484984 single base substitution A T intron_variant MELA-AU 5 114485008 114485008 single base substitution G A intron_variant MELA-AU 5 114485408 114485408 single base substitution T A intron_variant MELA-AU 5 114486007 114486007 single base substitution G A intron_variant MELA-AU 5 114486359 114486359 single base substitution G T intron_variant MELA-AU 5 114486365 114486366 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 5 114486604 114486604 single base substitution C T intron_variant MELA-AU 5 114486677 114486677 single base substitution G A intron_variant MELA-AU 5 114486925 114486925 single base substitution G A intron_variant MELA-AU 5 114487460 114487460 single base substitution G A intron_variant MELA-AU 5 114487507 114487507 single base substitution G A intron_variant MELA-AU 5 114487520 114487520 single base substitution G A intron_variant MELA-AU 5 114487704 114487704 single base substitution G A intron_variant MELA-AU 5 114487792 114487792 single base substitution G A intron_variant MELA-AU 5 114487927 114487927 single base substitution G A intron_variant MELA-AU 5 114487976 114487990 deletion of <=200bp TCGAAGACAAAGTCT - intron_variant MELA-AU 5 114488027 114488027 single base substitution G A intron_variant MELA-AU 5 114488330 114488331 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 114488335 114488335 single base substitution G A intron_variant MELA-AU 5 114488514 114488514 single base substitution G A intron_variant MELA-AU 5 114488533 114488533 single base substitution G A intron_variant MELA-AU 5 114488583 114488583 single base substitution C T intron_variant MELA-AU 5 114488585 114488585 single base substitution G A intron_variant MELA-AU 5 114488907 114488907 single base substitution G A intron_variant MELA-AU 5 114489004 114489004 single base substitution G A intron_variant MELA-AU 5 114489251 114489251 single base substitution G A intron_variant MELA-AU 5 114489337 114489337 single base substitution G A intron_variant MELA-AU 5 114489371 114489371 single base substitution T G intron_variant MELA-AU 5 114489423 114489423 single base substitution G A exon_variant MELA-AU 5 114489423 114489423 single base substitution G A intron_variant MELA-AU 5 114489436 114489436 single base substitution C T exon_variant MELA-AU 5 114489436 114489436 single base substitution C T intron_variant MELA-AU 5 114489576 114489578 deletion of <=200bp ATT - intron_variant MELA-AU 5 114489576 114489578 deletion of <=200bp ATT - upstream_gene_variant MELA-AU 5 114489736 114489736 single base substitution C T intron_variant MELA-AU 5 114489736 114489736 single base substitution C T upstream_gene_variant MELA-AU 5 114489922 114489922 single base substitution G A intron_variant MELA-AU 5 114489922 114489922 single base substitution G A upstream_gene_variant MELA-AU 5 114490442 114490442 single base substitution C T intron_variant MELA-AU 5 114490442 114490442 single base substitution C T upstream_gene_variant MELA-AU 5 114490496 114490496 single base substitution G A intron_variant MELA-AU 5 114490496 114490496 single base substitution G A upstream_gene_variant MELA-AU 5 114490563 114490563 single base substitution G A intron_variant MELA-AU 5 114490563 114490563 single base substitution G A upstream_gene_variant MELA-AU 5 114490741 114490742 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 114490741 114490742 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 114490971 114490971 single base substitution G A intron_variant MELA-AU 5 114490971 114490971 single base substitution G A upstream_gene_variant MELA-AU 5 114491083 114491083 single base substitution C T intron_variant MELA-AU 5 114491083 114491083 single base substitution C T upstream_gene_variant MELA-AU 5 114491188 114491188 single base substitution G A intron_variant MELA-AU 5 114491188 114491188 single base substitution G A upstream_gene_variant MELA-AU 5 114491352 114491352 single base substitution G A intron_variant MELA-AU 5 114491352 114491352 single base substitution G A upstream_gene_variant MELA-AU 5 114491550 114491550 single base substitution G A intron_variant MELA-AU 5 114491550 114491550 single base substitution G A upstream_gene_variant MELA-AU 5 114491582 114491582 single base substitution G A intron_variant MELA-AU 5 114491582 114491582 single base substitution G A upstream_gene_variant MELA-AU 5 114491612 114491612 single base substitution C T intron_variant MELA-AU 5 114491612 114491612 single base substitution C T upstream_gene_variant MELA-AU 5 114491659 114491659 single base substitution G A intron_variant MELA-AU 5 114491659 114491659 single base substitution G A upstream_gene_variant MELA-AU 5 114491876 114491876 single base substitution G A intron_variant MELA-AU 5 114491876 114491876 single base substitution G A upstream_gene_variant MELA-AU 5 114491913 114491913 single base substitution A T intron_variant MELA-AU 5 114491913 114491913 single base substitution A T upstream_gene_variant MELA-AU 5 114492371 114492371 single base substitution G A intron_variant MELA-AU 5 114492371 114492371 single base substitution G A upstream_gene_variant MELA-AU 5 114492458 114492458 single base substitution G A intron_variant MELA-AU 5 114492458 114492458 single base substitution G A upstream_gene_variant MELA-AU 5 114492553 114492553 single base substitution G A intron_variant MELA-AU 5 114492553 114492553 single base substitution G A upstream_gene_variant MELA-AU 5 114492590 114492590 single base substitution G A intron_variant MELA-AU 5 114492590 114492590 single base substitution G A upstream_gene_variant MELA-AU 5 114492591 114492591 single base substitution G A intron_variant MELA-AU 5 114492591 114492591 single base substitution G A upstream_gene_variant MELA-AU 5 114492592 114492592 single base substitution A T intron_variant MELA-AU 5 114492592 114492592 single base substitution A T upstream_gene_variant MELA-AU 5 114492710 114492710 single base substitution G C intron_variant MELA-AU 5 114492710 114492710 single base substitution G C upstream_gene_variant MELA-AU 5 114493428 114493428 single base substitution A G intron_variant MELA-AU 5 114493428 114493428 single base substitution A G upstream_gene_variant MELA-AU 5 114493562 114493562 single base substitution G A intron_variant MELA-AU 5 114493562 114493562 single base substitution G A upstream_gene_variant MELA-AU 5 114493808 114493808 single base substitution G A intron_variant MELA-AU 5 114493808 114493808 single base substitution G A upstream_gene_variant MELA-AU 5 114493817 114493817 single base substitution A T intron_variant MELA-AU 5 114493817 114493817 single base substitution A T upstream_gene_variant MELA-AU 5 114494160 114494160 single base substitution A T intron_variant MELA-AU 5 114494160 114494160 single base substitution A T upstream_gene_variant MELA-AU 5 114494188 114494188 single base substitution G A intron_variant MELA-AU 5 114494188 114494188 single base substitution G A upstream_gene_variant MELA-AU 5 114494233 114494233 single base substitution C T intron_variant MELA-AU 5 114494233 114494233 single base substitution C T upstream_gene_variant MELA-AU 5 114494598 114494598 single base substitution A G intron_variant MELA-AU 5 114494607 114494607 single base substitution G A intron_variant MELA-AU 5 114494756 114494756 single base substitution T C intron_variant MELA-AU 5 114494760 114494760 single base substitution C T intron_variant MELA-AU 5 114495072 114495072 single base substitution G A intron_variant MELA-AU 5 114495505 114495505 single base substitution C T intron_variant MELA-AU 5 114495543 114495543 single base substitution A G intron_variant MELA-AU 5 114496319 114496319 single base substitution G A intron_variant MELA-AU 5 114496563 114496563 single base substitution G A intron_variant MELA-AU 5 114496599 114496599 single base substitution G A intron_variant MELA-AU 5 114496836 114496836 single base substitution C T intron_variant MELA-AU 5 114496854 114496854 single base substitution T G intron_variant MELA-AU 5 114497072 114497072 single base substitution A G intron_variant MELA-AU 5 114497279 114497279 single base substitution G A intron_variant MELA-AU 5 114497574 114497574 single base substitution G A intron_variant MELA-AU 5 114497808 114497808 single base substitution C T intron_variant MELA-AU 5 114497814 114497814 single base substitution G A intron_variant MELA-AU 5 114497929 114497929 single base substitution C T intron_variant MELA-AU 5 114498056 114498056 single base substitution C T intron_variant MELA-AU 5 114498718 114498718 single base substitution G A intron_variant MELA-AU 5 114498735 114498735 single base substitution A G intron_variant MELA-AU 5 114498809 114498809 single base substitution C T intron_variant MELA-AU 5 114498843 114498843 single base substitution G A intron_variant MELA-AU 5 114499263 114499263 single base substitution G A exon_variant MELA-AU 5 114499263 114499263 single base substitution G A intron_variant MELA-AU 5 114499263 114499263 single base substitution G A missense_variant R72W 214C>T MELA-AU 5 114499263 114499263 single base substitution G A missense_variant R84W 250C>T MELA-AU 5 114499636 114499636 single base substitution G A intron_variant MELA-AU 5 114501251 114501251 single base substitution G A intron_variant MELA-AU 5 114501788 114501788 single base substitution G A intron_variant MELA-AU 5 114502028 114502028 single base substitution G A downstream_gene_variant MELA-AU 5 114502028 114502028 single base substitution G A intron_variant MELA-AU 5 114502085 114502085 single base substitution G A downstream_gene_variant MELA-AU 5 114502085 114502085 single base substitution G A intron_variant MELA-AU 5 114502472 114502472 single base substitution C T downstream_gene_variant MELA-AU 5 114502472 114502472 single base substitution C T intron_variant MELA-AU 5 114502946 114502946 single base substitution G A downstream_gene_variant MELA-AU 5 114502946 114502946 single base substitution G A intron_variant MELA-AU 5 114504092 114504092 single base substitution C T downstream_gene_variant MELA-AU 5 114504092 114504092 single base substitution C T intron_variant MELA-AU 5 114504156 114504156 single base substitution C A downstream_gene_variant MELA-AU 5 114504156 114504156 single base substitution C A intron_variant MELA-AU 5 114504282 114504282 single base substitution G A downstream_gene_variant MELA-AU 5 114504282 114504282 single base substitution G A intron_variant MELA-AU 5 114505140 114505140 single base substitution A G downstream_gene_variant MELA-AU 5 114505140 114505140 single base substitution A G intron_variant MELA-AU 5 114505142 114505142 single base substitution C T downstream_gene_variant MELA-AU 5 114505142 114505142 single base substitution C T intron_variant MELA-AU 5 114505595 114505595 single base substitution C T 5_prime_UTR_variant MELA-AU 5 114505595 114505595 single base substitution C T downstream_gene_variant MELA-AU 5 114505595 114505595 single base substitution C T intron_variant MELA-AU 5 114505595 114505595 single base substitution C T upstream_gene_variant MELA-AU 5 114505655 114505655 single base substitution G A 5_prime_UTR_variant MELA-AU 5 114505655 114505655 single base substitution G A downstream_gene_variant MELA-AU 5 114505655 114505655 single base substitution G A intron_variant MELA-AU 5 114505655 114505655 single base substitution G A upstream_gene_variant MELA-AU 5 114505671 114505671 single base substitution G A downstream_gene_variant MELA-AU 5 114505671 114505671 single base substitution G A intron_variant MELA-AU 5 114505671 114505671 single base substitution G A upstream_gene_variant MELA-AU 5 114505848 114505848 single base substitution C T downstream_gene_variant MELA-AU 5 114505848 114505848 single base substitution C T intron_variant MELA-AU 5 114505848 114505848 single base substitution C T upstream_gene_variant MELA-AU 5 114507056 114507056 single base substitution G A intron_variant MELA-AU 5 114507056 114507056 single base substitution G A upstream_gene_variant MELA-AU 5 114507103 114507103 single base substitution C T intron_variant MELA-AU 5 114507103 114507103 single base substitution C T upstream_gene_variant MELA-AU 5 114507273 114507273 single base substitution C T intron_variant MELA-AU 5 114507273 114507273 single base substitution C T upstream_gene_variant MELA-AU 5 114507672 114507672 single base substitution A C intron_variant MELA-AU 5 114507672 114507672 single base substitution A C upstream_gene_variant MELA-AU 5 114507893 114507893 single base substitution C T downstream_gene_variant MELA-AU 5 114507893 114507893 single base substitution C T intron_variant MELA-AU 5 114507893 114507893 single base substitution C T upstream_gene_variant MELA-AU 5 114508192 114508192 single base substitution G A downstream_gene_variant MELA-AU 5 114508192 114508192 single base substitution G A intron_variant MELA-AU 5 114508192 114508192 single base substitution G A upstream_gene_variant MELA-AU 5 114508289 114508289 single base substitution C T downstream_gene_variant MELA-AU 5 114508289 114508289 single base substitution C T intron_variant MELA-AU 5 114508289 114508289 single base substitution C T upstream_gene_variant MELA-AU 5 114508425 114508425 single base substitution T G downstream_gene_variant MELA-AU 5 114508425 114508425 single base substitution T G intron_variant MELA-AU 5 114508425 114508425 single base substitution T G upstream_gene_variant MELA-AU 5 114508678 114508678 single base substitution C T downstream_gene_variant MELA-AU 5 114508678 114508678 single base substitution C T intron_variant MELA-AU 5 114508678 114508678 single base substitution C T upstream_gene_variant MELA-AU 5 114509551 114509551 single base substitution C T downstream_gene_variant MELA-AU 5 114509551 114509551 single base substitution C T intron_variant MELA-AU 5 114509551 114509551 single base substitution C T upstream_gene_variant MELA-AU 5 114509787 114509787 single base substitution C T downstream_gene_variant MELA-AU 5 114509787 114509787 single base substitution C T intron_variant MELA-AU 5 114509787 114509787 single base substitution C T splice_region_variant MELA-AU 5 114509787 114509787 single base substitution C T upstream_gene_variant MELA-AU 5 114509823 114509823 single base substitution C T downstream_gene_variant MELA-AU 5 114509823 114509823 single base substitution C T exon_variant MELA-AU 5 114509823 114509823 single base substitution C T intron_variant MELA-AU 5 114509823 114509823 single base substitution C T upstream_gene_variant MELA-AU 5 114510018 114510018 single base substitution T A downstream_gene_variant MELA-AU 5 114510018 114510018 single base substitution T A intron_variant MELA-AU 5 114510018 114510018 single base substitution T A upstream_gene_variant MELA-AU 5 114510704 114510704 single base substitution C T downstream_gene_variant MELA-AU 5 114510704 114510704 single base substitution C T intron_variant MELA-AU 5 114510704 114510704 single base substitution C T upstream_gene_variant MELA-AU 5 114511051 114511051 single base substitution C T downstream_gene_variant MELA-AU 5 114511051 114511051 single base substitution C T intron_variant MELA-AU 5 114511051 114511051 single base substitution C T upstream_gene_variant MELA-AU 5 114511457 114511457 single base substitution C T downstream_gene_variant MELA-AU 5 114511457 114511457 single base substitution C T intron_variant MELA-AU 5 114511457 114511457 single base substitution C T upstream_gene_variant MELA-AU 5 114511952 114511952 single base substitution A C downstream_gene_variant MELA-AU 5 114511952 114511952 single base substitution A C intron_variant MELA-AU 5 114511952 114511952 single base substitution A C upstream_gene_variant MELA-AU 5 114512025 114512025 single base substitution C T downstream_gene_variant MELA-AU 5 114512025 114512025 single base substitution C T intron_variant MELA-AU 5 114512025 114512025 single base substitution C T upstream_gene_variant MELA-AU 5 114512788 114512788 single base substitution G A downstream_gene_variant MELA-AU 5 114512788 114512788 single base substitution G A intron_variant MELA-AU 5 114512788 114512788 single base substitution G A upstream_gene_variant MELA-AU 5 114513243 114513243 single base substitution C T 3_prime_UTR_variant MELA-AU 5 114513243 114513243 single base substitution C T intron_variant MELA-AU 5 114513243 114513243 single base substitution C T upstream_gene_variant MELA-AU 5 114513294 114513294 single base substitution G A 3_prime_UTR_variant MELA-AU 5 114513294 114513294 single base substitution G A intron_variant MELA-AU 5 114513294 114513294 single base substitution G A upstream_gene_variant MELA-AU 5 114513610 114513610 single base substitution C T intron_variant MELA-AU 5 114513610 114513610 single base substitution C T upstream_gene_variant MELA-AU 5 114513645 114513645 single base substitution T C intron_variant MELA-AU 5 114513645 114513645 single base substitution T C upstream_gene_variant MELA-AU 5 114514034 114514034 single base substitution C T intron_variant MELA-AU 5 114514034 114514034 single base substitution C T upstream_gene_variant MELA-AU 5 114514422 114514423 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 114514422 114514423 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 114514658 114514658 single base substitution G A intron_variant MELA-AU 5 114514658 114514658 single base substitution G A upstream_gene_variant MELA-AU 5 114515050 114515050 single base substitution C T intron_variant MELA-AU 5 114515140 114515140 single base substitution G A intron_variant MELA-AU 5 114515179 114515179 single base substitution C T intron_variant MELA-AU 5 114515705 114515705 single base substitution A T 5_prime_UTR_variant MELA-AU 5 114515705 114515705 single base substitution A T missense_variant F10L 30T>A MELA-AU 5 114516971 114516971 single base substitution G A upstream_gene_variant MELA-AU 5 114517223 114517223 single base substitution G A upstream_gene_variant MELA-AU 5 114517373 114517373 single base substitution G C upstream_gene_variant MELA-AU 5 114517561 114517561 single base substitution G A upstream_gene_variant MELA-AU 5 114517773 114517773 single base substitution G A upstream_gene_variant MELA-AU 5 114517845 114517845 single base substitution G A upstream_gene_variant MELA-AU 5 114518054 114518054 single base substitution C T upstream_gene_variant MELA-AU 5 114518059 114518059 single base substitution T C upstream_gene_variant MELA-AU 5 114518146 114518146 single base substitution G A upstream_gene_variant MELA-AU 5 114518219 114518219 single base substitution C T upstream_gene_variant MELA-AU 5 114518336 114518336 single base substitution T C upstream_gene_variant MELA-AU 5 114518462 114518462 single base substitution C T upstream_gene_variant MELA-AU 5 114518556 114518556 single base substitution T C upstream_gene_variant MELA-AU 5 114518733 114518733 single base substitution G C upstream_gene_variant MELA-AU 5 114518765 114518765 single base substitution C T upstream_gene_variant MELA-AU 5 114519029 114519040 deletion of <=200bp AAAGGTCATTTT - upstream_gene_variant MELA-AU 5 114519313 114519313 single base substitution G A upstream_gene_variant MELA-AU 5 114519489 114519489 single base substitution A G upstream_gene_variant MELA-AU 5 114519589 114519589 single base substitution C T upstream_gene_variant MELA-AU 5 114519770 114519770 single base substitution C A upstream_gene_variant MELA-AU 5 114519889 114519889 single base substitution C A upstream_gene_variant MELA-AU 5 114520687 114520687 single base substitution A T upstream_gene_variant MELA-AU 5 114520691 114520691 single base substitution C T upstream_gene_variant MELA-AU 5 114520723 114520723 single base substitution A G upstream_gene_variant MELA-AU 5 114520866 114520866 single base substitution G A upstream_gene_variant MELA-AU 5 114520996 114520996 single base substitution G A upstream_gene_variant MELA-AU 5 114521061 114521061 single base substitution G A upstream_gene_variant ORCA-IN 5 114458868 114458868 single base substitution C T downstream_gene_variant ORCA-IN 5 114485217 114485217 single base substitution G A intron_variant ORCA-IN 5 114493831 114493831 single base substitution T G intron_variant ORCA-IN 5 114493831 114493831 single base substitution T G upstream_gene_variant ORCA-IN 5 114495952 114495952 single base substitution G A intron_variant ORCA-IN 5 114520194 114520194 deletion of <=200bp T - upstream_gene_variant OV-AU 5 114464176 114464176 single base substitution G A intron_variant OV-AU 5 114469491 114469491 single base substitution A G intron_variant OV-AU 5 114473206 114473206 single base substitution C A downstream_gene_variant OV-AU 5 114473206 114473206 single base substitution C A missense_variant K170N 510G>T OV-AU 5 114473206 114473206 single base substitution C A missense_variant K313N 939G>T OV-AU 5 114473206 114473206 single base substitution C A missense_variant K325N 975G>T OV-AU 5 114473562 114473562 single base substitution A C downstream_gene_variant OV-AU 5 114473562 114473562 single base substitution A C intron_variant OV-AU 5 114474671 114474671 single base substitution C A downstream_gene_variant OV-AU 5 114474671 114474671 single base substitution C A intron_variant OV-AU 5 114480538 114480538 single base substitution A C downstream_gene_variant OV-AU 5 114480538 114480538 single base substitution A C intron_variant OV-AU 5 114480799 114480799 single base substitution C T downstream_gene_variant OV-AU 5 114480799 114480799 single base substitution C T intron_variant OV-AU 5 114481743 114481743 single base substitution T A downstream_gene_variant OV-AU 5 114481743 114481743 single base substitution T A intron_variant OV-AU 5 114483160 114483160 single base substitution T C intron_variant OV-AU 5 114485129 114485129 single base substitution A T intron_variant OV-AU 5 114485913 114485913 single base substitution A T intron_variant OV-AU 5 114486925 114486925 single base substitution G T intron_variant OV-AU 5 114493524 114493524 single base substitution A G intron_variant OV-AU 5 114493524 114493524 single base substitution A G upstream_gene_variant OV-AU 5 114494574 114494574 single base substitution G A intron_variant OV-AU 5 114495697 114495697 single base substitution T A intron_variant OV-AU 5 114495978 114495978 single base substitution T C intron_variant OV-AU 5 114500128 114500128 single base substitution G A intron_variant OV-AU 5 114503512 114503512 single base substitution C A downstream_gene_variant OV-AU 5 114503512 114503512 single base substitution C A intron_variant OV-AU 5 114504691 114504691 single base substitution T C downstream_gene_variant OV-AU 5 114504691 114504691 single base substitution T C exon_variant OV-AU 5 114504691 114504691 single base substitution T C intron_variant OV-AU 5 114506430 114506430 single base substitution G A downstream_gene_variant OV-AU 5 114506430 114506430 single base substitution G A intron_variant OV-AU 5 114506430 114506430 single base substitution G A upstream_gene_variant OV-AU 5 114516848 114516848 single base substitution T G upstream_gene_variant OV-AU 5 114518662 114518662 single base substitution C A upstream_gene_variant PACA-AU 5 114467881 114467881 single base substitution A G intron_variant PACA-AU 5 114475259 114475259 single base substitution A G downstream_gene_variant PACA-AU 5 114475259 114475259 single base substitution A G intron_variant PACA-AU 5 114476322 114476322 deletion of <=200bp T - downstream_gene_variant PACA-AU 5 114476322 114476322 deletion of <=200bp T - intron_variant PACA-AU 5 114477018 114477018 single base substitution C T downstream_gene_variant PACA-AU 5 114477018 114477018 single base substitution C T synonymous_variant K120K 360G>A PACA-AU 5 114477018 114477018 single base substitution C T synonymous_variant K263K 789G>A PACA-AU 5 114477018 114477018 single base substitution C T synonymous_variant K275K 825G>A PACA-AU 5 114478084 114478084 single base substitution G C downstream_gene_variant PACA-AU 5 114478084 114478084 single base substitution G C intron_variant PACA-AU 5 114482603 114482603 single base substitution G C downstream_gene_variant PACA-AU 5 114482603 114482603 single base substitution G C intron_variant PACA-AU 5 114482959 114482959 single base substitution C A 5_prime_UTR_variant PACA-AU 5 114482959 114482959 single base substitution C A exon_variant PACA-AU 5 114482959 114482959 single base substitution C A missense_variant R132I 395G>T PACA-AU 5 114482959 114482959 single base substitution C A missense_variant R142I 425G>T PACA-AU 5 114482959 114482959 single base substitution C A missense_variant R144I 431G>T PACA-AU 5 114487494 114487494 single base substitution C T intron_variant PACA-AU 5 114493192 114493192 single base substitution C T intron_variant PACA-AU 5 114493192 114493192 single base substitution C T upstream_gene_variant PACA-AU 5 114493822 114493822 single base substitution T A intron_variant PACA-AU 5 114493822 114493822 single base substitution T A upstream_gene_variant PACA-AU 5 114499470 114499470 single base substitution A G intron_variant PACA-AU 5 114499518 114499518 single base substitution G T intron_variant PACA-AU 5 114508283 114508283 single base substitution A G downstream_gene_variant PACA-AU 5 114508283 114508283 single base substitution A G intron_variant PACA-AU 5 114508283 114508283 single base substitution A G upstream_gene_variant PACA-AU 5 114509240 114509240 single base substitution T C downstream_gene_variant PACA-AU 5 114509240 114509240 single base substitution T C intron_variant PACA-AU 5 114509240 114509240 single base substitution T C upstream_gene_variant PACA-AU 5 114511320 114511320 single base substitution T G downstream_gene_variant PACA-AU 5 114511320 114511320 single base substitution T G intron_variant PACA-AU 5 114511320 114511320 single base substitution T G upstream_gene_variant PACA-AU 5 114512868 114512868 single base substitution A G 3_prime_UTR_variant PACA-AU 5 114512868 114512868 single base substitution A G intron_variant PACA-AU 5 114512868 114512868 single base substitution A G upstream_gene_variant PACA-AU 5 114515417 114515417 single base substitution C T intron_variant PACA-AU 5 114519263 114519263 single base substitution T G upstream_gene_variant PACA-AU 5 114521186 114521186 single base substitution A T upstream_gene_variant PACA-CA 5 114456377 114456377 single base substitution C A downstream_gene_variant PACA-CA 5 114462570 114462570 single base substitution A G intron_variant PACA-CA 5 114464768 114464768 single base substitution T C intron_variant PACA-CA 5 114464987 114464987 single base substitution C T intron_variant PACA-CA 5 114466956 114466956 single base substitution A G intron_variant PACA-CA 5 114470068 114470068 single base substitution A T intron_variant PACA-CA 5 114470103 114470103 insertion of <=200bp - T intron_variant PACA-CA 5 114481145 114481145 single base substitution A G downstream_gene_variant PACA-CA 5 114481145 114481145 single base substitution A G intron_variant PACA-CA 5 114495913 114495913 single base substitution G A intron_variant PACA-CA 5 114496272 114496272 single base substitution C T intron_variant PACA-CA 5 114498210 114498218 deletion of <=200bp AAACTAGCC - intron_variant PACA-CA 5 114511843 114511843 single base substitution A G downstream_gene_variant PACA-CA 5 114511843 114511843 single base substitution A G intron_variant PACA-CA 5 114511843 114511843 single base substitution A G upstream_gene_variant PACA-CA 5 114513176 114513176 single base substitution G A 3_prime_UTR_variant PACA-CA 5 114513176 114513176 single base substitution G A intron_variant PACA-CA 5 114513176 114513176 single base substitution G A upstream_gene_variant PACA-CA 5 114513783 114513783 single base substitution C T intron_variant PACA-CA 5 114513783 114513783 single base substitution C T upstream_gene_variant PACA-CA 5 114514985 114514985 single base substitution G C intron_variant PACA-CA 5 114517070 114517070 single base substitution C T upstream_gene_variant PACA-CA 5 114517733 114517733 single base substitution A G upstream_gene_variant PACA-CA 5 114518464 114518464 single base substitution C G upstream_gene_variant PACA-CA 5 114521186 114521186 single base substitution A T upstream_gene_variant PAEN-AU 5 114463982 114463982 single base substitution C T intron_variant PAEN-IT 5 114496714 114496714 single base substitution G A intron_variant PAEN-IT 5 114506739 114506739 single base substitution G C downstream_gene_variant PAEN-IT 5 114506739 114506739 single base substitution G C intron_variant PAEN-IT 5 114506739 114506739 single base substitution G C upstream_gene_variant PBCA-DE 5 114481485 114481485 single base substitution A T downstream_gene_variant PBCA-DE 5 114481485 114481485 single base substitution A T intron_variant PBCA-DE 5 114483788 114483788 single base substitution A G intron_variant PBCA-DE 5 114486816 114486816 single base substitution C T intron_variant PBCA-DE 5 114489327 114489327 single base substitution C T intron_variant PBCA-DE 5 114493832 114493832 single base substitution G A intron_variant PBCA-DE 5 114493832 114493832 single base substitution G A upstream_gene_variant PBCA-DE 5 114499927 114499927 deletion of <=200bp T - intron_variant PBCA-DE 5 114500913 114500913 single base substitution G T intron_variant PBCA-DE 5 114503455 114503455 single base substitution C T downstream_gene_variant PBCA-DE 5 114503455 114503455 single base substitution C T intron_variant PBCA-DE 5 114509220 114509221 deletion of <=200bp TG - downstream_gene_variant PBCA-DE 5 114509220 114509221 deletion of <=200bp TG - intron_variant PBCA-DE 5 114509220 114509221 deletion of <=200bp TG - upstream_gene_variant PBCA-DE 5 114513674 114513674 single base substitution C G intron_variant PBCA-DE 5 114513674 114513674 single base substitution C G upstream_gene_variant PBCA-DE 5 114515318 114515318 single base substitution A C intron_variant PBCA-DE 5 114520329 114520329 single base substitution C T upstream_gene_variant PBCA-DE 5 114520870 114520870 insertion of <=200bp - T upstream_gene_variant PRAD-CA 5 114455505 114455505 single base substitution C T downstream_gene_variant PRAD-CA 5 114463241 114463241 single base substitution G C intron_variant PRAD-CA 5 114484036 114484036 single base substitution T C intron_variant PRAD-CA 5 114486733 114486733 single base substitution C G intron_variant PRAD-CA 5 114493315 114493315 single base substitution C T intron_variant PRAD-CA 5 114493315 114493315 single base substitution C T upstream_gene_variant PRAD-CA 5 114499776 114499776 single base substitution G T intron_variant PRAD-CA 5 114515588 114515588 single base substitution A G intron_variant PRAD-CA 5 114519049 114519049 single base substitution A T upstream_gene_variant PRAD-CA 5 114520367 114520367 single base substitution A G upstream_gene_variant PRAD-UK 5 114470237 114470237 single base substitution C A intron_variant PRAD-UK 5 114485803 114485803 single base substitution T C intron_variant PRAD-UK 5 114490999 114490999 single base substitution C A intron_variant PRAD-UK 5 114490999 114490999 single base substitution C A upstream_gene_variant PRAD-US 5 114466299 114466299 single base substitution C T missense_variant V453I 1357G>A PRAD-US 5 114466299 114466299 single base substitution C T missense_variant V596I 1786G>A PRAD-US 5 114466299 114466299 single base substitution C T missense_variant V608I 1822G>A PRAD-US 5 114466495 114466495 single base substitution T A synonymous_variant G387G 1161A>T PRAD-US 5 114466495 114466495 single base substitution T A synonymous_variant G530G 1590A>T PRAD-US 5 114466495 114466495 single base substitution T A synonymous_variant G542G 1626A>T PRAD-US 5 114466559 114466559 single base substitution C T missense_variant C366Y 1097G>A PRAD-US 5 114466559 114466559 single base substitution C T missense_variant C509Y 1526G>A PRAD-US 5 114466559 114466559 single base substitution C T missense_variant C521Y 1562G>A READ-US 5 114469752 114469752 single base substitution T C missense_variant S292G 874A>G READ-US 5 114469752 114469752 single base substitution T C missense_variant S435G 1303A>G READ-US 5 114469752 114469752 single base substitution T C missense_variant S447G 1339A>G READ-US 5 114469836 114469836 single base substitution C T missense_variant V264M 790G>A READ-US 5 114469836 114469836 single base substitution C T missense_variant V407M 1219G>A READ-US 5 114469836 114469836 single base substitution C T missense_variant V419M 1255G>A RECA-EU 5 114457770 114457770 single base substitution G A downstream_gene_variant RECA-EU 5 114465299 114465299 single base substitution C G intron_variant RECA-EU 5 114475550 114475550 single base substitution A G downstream_gene_variant RECA-EU 5 114475550 114475550 single base substitution A G intron_variant RECA-EU 5 114476264 114476264 single base substitution C G downstream_gene_variant RECA-EU 5 114476264 114476264 single base substitution C G intron_variant RECA-EU 5 114488990 114488990 single base substitution G C intron_variant RECA-EU 5 114490881 114490881 single base substitution T A intron_variant RECA-EU 5 114490881 114490881 single base substitution T A upstream_gene_variant RECA-EU 5 114492461 114492461 single base substitution G A intron_variant RECA-EU 5 114492461 114492461 single base substitution G A upstream_gene_variant RECA-EU 5 114496914 114496914 single base substitution T A intron_variant RECA-EU 5 114512944 114512944 single base substitution T G 3_prime_UTR_variant RECA-EU 5 114512944 114512944 single base substitution T G intron_variant RECA-EU 5 114512944 114512944 single base substitution T G upstream_gene_variant SKCA-BR 5 114458200 114458200 single base substitution G A downstream_gene_variant SKCA-BR 5 114461888 114461888 single base substitution G A 3_prime_UTR_variant SKCA-BR 5 114461888 114461888 single base substitution G A downstream_gene_variant SKCA-BR 5 114462623 114462623 single base substitution G A intron_variant SKCA-BR 5 114464272 114464273 deletion of <=200bp AC - intron_variant SKCA-BR 5 114464820 114464820 single base substitution G A intron_variant SKCA-BR 5 114465036 114465036 single base substitution G A intron_variant SKCA-BR 5 114466854 114466854 single base substitution G A intron_variant SKCA-BR 5 114467134 114467134 single base substitution G A intron_variant SKCA-BR 5 114467881 114467881 insertion of <=200bp - ATG intron_variant SKCA-BR 5 114468246 114468247 deletion of <=200bp AG - intron_variant SKCA-BR 5 114470372 114470372 single base substitution G A intron_variant SKCA-BR 5 114470459 114470459 single base substitution G A intron_variant SKCA-BR 5 114472322 114472322 single base substitution G A downstream_gene_variant SKCA-BR 5 114472322 114472322 single base substitution G A intron_variant SKCA-BR 5 114473039 114473039 single base substitution G A downstream_gene_variant SKCA-BR 5 114473039 114473039 single base substitution G A intron_variant SKCA-BR 5 114474658 114474658 single base substitution G C downstream_gene_variant SKCA-BR 5 114474658 114474658 single base substitution G C intron_variant SKCA-BR 5 114477535 114477535 single base substitution G A intron_variant SKCA-BR 5 114479351 114479351 single base substitution T A downstream_gene_variant SKCA-BR 5 114479351 114479351 single base substitution T A intron_variant SKCA-BR 5 114479438 114479438 single base substitution A T downstream_gene_variant SKCA-BR 5 114479438 114479438 single base substitution A T intron_variant SKCA-BR 5 114479747 114479747 single base substitution A T downstream_gene_variant SKCA-BR 5 114479747 114479747 single base substitution A T intron_variant SKCA-BR 5 114486451 114486451 single base substitution C A intron_variant SKCA-BR 5 114488229 114488229 single base substitution A G intron_variant SKCA-BR 5 114488918 114488918 single base substitution G A intron_variant SKCA-BR 5 114489786 114489786 insertion of <=200bp - CA intron_variant SKCA-BR 5 114489786 114489786 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 5 114491903 114491903 single base substitution T A intron_variant SKCA-BR 5 114491903 114491903 single base substitution T A upstream_gene_variant SKCA-BR 5 114492927 114492927 single base substitution A C intron_variant SKCA-BR 5 114492927 114492927 single base substitution A C upstream_gene_variant SKCA-BR 5 114493409 114493409 single base substitution G A intron_variant SKCA-BR 5 114493409 114493409 single base substitution G A upstream_gene_variant SKCA-BR 5 114493809 114493809 single base substitution G A intron_variant SKCA-BR 5 114493809 114493809 single base substitution G A upstream_gene_variant SKCA-BR 5 114503750 114503750 single base substitution C T downstream_gene_variant SKCA-BR 5 114503750 114503750 single base substitution C T intron_variant SKCA-BR 5 114505671 114505671 single base substitution G A downstream_gene_variant SKCA-BR 5 114505671 114505671 single base substitution G A intron_variant SKCA-BR 5 114505671 114505671 single base substitution G A upstream_gene_variant SKCA-BR 5 114508181 114508181 single base substitution C T downstream_gene_variant SKCA-BR 5 114508181 114508181 single base substitution C T intron_variant SKCA-BR 5 114508181 114508181 single base substitution C T upstream_gene_variant SKCA-BR 5 114512483 114512484 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 5 114512483 114512484 deletion of <=200bp CT - intron_variant SKCA-BR 5 114512483 114512484 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 5 114512484 114512484 single base substitution T C downstream_gene_variant SKCA-BR 5 114512484 114512484 single base substitution T C intron_variant SKCA-BR 5 114512484 114512484 single base substitution T C upstream_gene_variant SKCA-BR 5 114512485 114512486 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 5 114512485 114512486 deletion of <=200bp CT - intron_variant SKCA-BR 5 114512485 114512486 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 5 114512486 114512486 single base substitution T C downstream_gene_variant SKCA-BR 5 114512486 114512486 single base substitution T C intron_variant SKCA-BR 5 114512486 114512486 single base substitution T C upstream_gene_variant SKCA-BR 5 114519040 114519040 single base substitution T A upstream_gene_variant SKCM-US 5 114462242 114462242 single base substitution T C synonymous_variant E560E 1680A>G SKCM-US 5 114462242 114462242 single base substitution T C synonymous_variant E703E 2109A>G SKCM-US 5 114462242 114462242 single base substitution T C synonymous_variant E715E 2145A>G SKCM-US 5 114462246 114462246 single base substitution T C missense_variant E559G 1676A>G SKCM-US 5 114462246 114462246 single base substitution T C missense_variant E702G 2105A>G SKCM-US 5 114462246 114462246 single base substitution T C missense_variant E714G 2141A>G SKCM-US 5 114462380 114462380 single base substitution G A synonymous_variant F514F 1542C>T SKCM-US 5 114462380 114462380 single base substitution G A synonymous_variant F657F 1971C>T SKCM-US 5 114462380 114462380 single base substitution G A synonymous_variant F669F 2007C>T SKCM-US 5 114462430 114462430 single base substitution T C missense_variant N498D 1492A>G SKCM-US 5 114462430 114462430 single base substitution T C missense_variant N641D 1921A>G SKCM-US 5 114462430 114462430 single base substitution T C missense_variant N653D 1957A>G SKCM-US 5 114466380 114466380 single base substitution C T missense_variant E426K 1276G>A SKCM-US 5 114466380 114466380 single base substitution C T missense_variant E569K 1705G>A SKCM-US 5 114466380 114466380 single base substitution C T missense_variant E581K 1741G>A SKCM-US 5 114466386 114466386 single base substitution G A missense_variant R424C 1270C>T SKCM-US 5 114466386 114466386 single base substitution G A missense_variant R567C 1699C>T SKCM-US 5 114466386 114466386 single base substitution G A missense_variant R579C 1735C>T SKCM-US 5 114466515 114466515 single base substitution G A missense_variant R381C 1141C>T SKCM-US 5 114466515 114466515 single base substitution G A missense_variant R524C 1570C>T SKCM-US 5 114466515 114466515 single base substitution G A missense_variant R536C 1606C>T SKCM-US 5 114469560 114469560 single base substitution G A missense_variant P356S 1066C>T SKCM-US 5 114469560 114469560 single base substitution G A missense_variant P499S 1495C>T SKCM-US 5 114469560 114469560 single base substitution G A missense_variant P511S 1531C>T SKCM-US 5 114469656 114469656 single base substitution C T missense_variant E324K 970G>A SKCM-US 5 114469656 114469656 single base substitution C T missense_variant E467K 1399G>A SKCM-US 5 114469656 114469656 single base substitution C T missense_variant E479K 1435G>A SKCM-US 5 114472711 114472711 single base substitution G A downstream_gene_variant SKCM-US 5 114472711 114472711 single base substitution G A missense_variant S256F 767C>T SKCM-US 5 114472711 114472711 single base substitution G A missense_variant S399F 1196C>T SKCM-US 5 114472711 114472711 single base substitution G A missense_variant S411F 1232C>T SKCM-US 5 114473250 114473250 single base substitution C T downstream_gene_variant SKCM-US 5 114473250 114473250 single base substitution C T missense_variant E156K 466G>A SKCM-US 5 114473250 114473250 single base substitution C T missense_variant E299K 895G>A SKCM-US 5 114473250 114473250 single base substitution C T missense_variant E311K 931G>A SKCM-US 5 114473274 114473274 single base substitution A T downstream_gene_variant SKCM-US 5 114473274 114473274 single base substitution A T missense_variant F148I 442T>A SKCM-US 5 114473274 114473274 single base substitution A T missense_variant F291I 871T>A SKCM-US 5 114473274 114473274 single base substitution A T missense_variant F303I 907T>A SKCM-US 5 114482906 114482906 single base substitution G A exon_variant SKCM-US 5 114482906 114482906 single base substitution G A missense_variant P150S 448C>T SKCM-US 5 114482906 114482906 single base substitution G A missense_variant P160S 478C>T SKCM-US 5 114482906 114482906 single base substitution G A missense_variant P162S 484C>T SKCM-US 5 114482906 114482906 single base substitution G A missense_variant P7S 19C>T SKCM-US 5 114482954 114482954 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 5 114482954 114482954 single base substitution G A exon_variant SKCM-US 5 114482954 114482954 single base substitution G A missense_variant R134C 400C>T SKCM-US 5 114482954 114482954 single base substitution G A missense_variant R144C 430C>T SKCM-US 5 114482954 114482954 single base substitution G A missense_variant R146C 436C>T SKCM-US 5 114482989 114482989 single base substitution C T 5_prime_UTR_variant SKCM-US 5 114482989 114482989 single base substitution C T exon_variant SKCM-US 5 114482989 114482989 single base substitution C T missense_variant R122Q 365G>A SKCM-US 5 114482989 114482989 single base substitution C T missense_variant R132Q 395G>A SKCM-US 5 114482989 114482989 single base substitution C T missense_variant R134Q 401G>A SKCM-US 5 114483010 114483010 single base substitution C T 5_prime_UTR_variant SKCM-US 5 114483010 114483010 single base substitution C T exon_variant SKCM-US 5 114483010 114483010 single base substitution C T missense_variant R115Q 344G>A SKCM-US 5 114483010 114483010 single base substitution C T missense_variant R125Q 374G>A SKCM-US 5 114483010 114483010 single base substitution C T missense_variant R127Q 380G>A SKCM-US 5 114483050 114483050 single base substitution G A 5_prime_UTR_variant SKCM-US 5 114483050 114483050 single base substitution G A exon_variant SKCM-US 5 114483050 114483050 single base substitution G A missense_variant P102S 304C>T SKCM-US 5 114483050 114483050 single base substitution G A missense_variant P112S 334C>T SKCM-US 5 114483050 114483050 single base substitution G A missense_variant P114S 340C>T SKCM-US 5 114499263 114499263 single base substitution G A exon_variant SKCM-US 5 114499263 114499263 single base substitution G A intron_variant SKCM-US 5 114499263 114499263 single base substitution G A missense_variant R72W 214C>T SKCM-US 5 114499263 114499263 single base substitution G A missense_variant R84W 250C>T SKCM-US 5 114499295 114499295 single base substitution G A exon_variant SKCM-US 5 114499295 114499295 single base substitution G A intron_variant SKCM-US 5 114499295 114499295 single base substitution G A missense_variant S61L 182C>T SKCM-US 5 114499295 114499295 single base substitution G A missense_variant S73L 218C>T SKCM-US 5 114515705 114515705 single base substitution A T 5_prime_UTR_variant SKCM-US 5 114515705 114515705 single base substitution A T missense_variant F10L 30T>A STAD-US 5 114462533 114462533 single base substitution A G synonymous_variant H463H 1389T>C STAD-US 5 114462533 114462533 single base substitution A G synonymous_variant H606H 1818T>C STAD-US 5 114462533 114462533 single base substitution A G synonymous_variant H618H 1854T>C STAD-US 5 114469592 114469592 single base substitution C T missense_variant S345N 1034G>A STAD-US 5 114469592 114469592 single base substitution C T missense_variant S488N 1463G>A STAD-US 5 114469592 114469592 single base substitution C T missense_variant S500N 1499G>A STAD-US 5 114473223 114473223 single base substitution C T downstream_gene_variant STAD-US 5 114473223 114473223 single base substitution C T missense_variant A165T 493G>A STAD-US 5 114473223 114473223 single base substitution C T missense_variant A308T 922G>A STAD-US 5 114473223 114473223 single base substitution C T missense_variant A320T 958G>A STAD-US 5 114480405 114480405 single base substitution T G downstream_gene_variant STAD-US 5 114480405 114480405 single base substitution T G exon_variant STAD-US 5 114480405 114480405 single base substitution T G missense_variant N209H 625A>C STAD-US 5 114480405 114480405 single base substitution T G missense_variant N221H 661A>C STAD-US 5 114480405 114480405 single base substitution T G missense_variant N66H 196A>C THCA-US 5 114482788 114482788 single base substitution G T downstream_gene_variant THCA-US 5 114482788 114482788 single base substitution G T exon_variant THCA-US 5 114482788 114482788 single base substitution G T missense_variant P189Q 566C>A THCA-US 5 114482788 114482788 single base substitution G T missense_variant P201Q 602C>A THCA-US 5 114482788 114482788 single base substitution G T missense_variant P46Q 137C>A UCEC-US 5 114462325 114462325 single base substitution G T missense_variant L533I 1597C>A UCEC-US 5 114462325 114462325 single base substitution G T missense_variant L676I 2026C>A UCEC-US 5 114462325 114462325 single base substitution G T missense_variant L688I 2062C>A UCEC-US 5 114462356 114462356 single base substitution T G synonymous_variant V522V 1566A>C UCEC-US 5 114462356 114462356 single base substitution T G synonymous_variant V665V 1995A>C UCEC-US 5 114462356 114462356 single base substitution T G synonymous_variant V677V 2031A>C UCEC-US 5 114466317 114466317 single base substitution G A missense_variant R447C 1339C>T UCEC-US 5 114466317 114466317 single base substitution G A missense_variant R590C 1768C>T UCEC-US 5 114466317 114466317 single base substitution G A missense_variant R602C 1804C>T UCEC-US 5 114469587 114469587 single base substitution C A stop_gained E347* 1039G>T UCEC-US 5 114469587 114469587 single base substitution C A stop_gained E490* 1468G>T UCEC-US 5 114469587 114469587 single base substitution C A stop_gained E502* 1504G>T UCEC-US 5 114469702 114469702 single base substitution C T stop_gained W308* 924G>A UCEC-US 5 114469702 114469702 single base substitution C T stop_gained W451* 1353G>A UCEC-US 5 114469702 114469702 single base substitution C T stop_gained W463* 1389G>A UCEC-US 5 114473237 114473237 single base substitution G T downstream_gene_variant UCEC-US 5 114473237 114473237 single base substitution G T stop_gained S160* 479C>A UCEC-US 5 114473237 114473237 single base substitution G T stop_gained S303* 908C>A UCEC-US 5 114473237 114473237 single base substitution G T stop_gained S315* 944C>A UCEC-US 5 114482894 114482894 single base substitution C A exon_variant UCEC-US 5 114482894 114482894 single base substitution C A stop_gained E11* 31G>T UCEC-US 5 114482894 114482894 single base substitution C A stop_gained E154* 460G>T UCEC-US 5 114482894 114482894 single base substitution C A stop_gained E164* 490G>T UCEC-US 5 114482894 114482894 single base substitution C A stop_gained E166* 496G>T UCEC-US 5 114482917 114482917 single base substitution T C exon_variant UCEC-US 5 114482917 114482917 single base substitution T C missense_variant D146G 437A>G UCEC-US 5 114482917 114482917 single base substitution T C missense_variant D156G 467A>G UCEC-US 5 114482917 114482917 single base substitution T C missense_variant D158G 473A>G UCEC-US 5 114482917 114482917 single base substitution T C missense_variant D3G 8A>G UCEC-US 5 114499229 114499229 single base substitution C T exon_variant UCEC-US 5 114499229 114499229 single base substitution C T intron_variant UCEC-US 5 114499229 114499229 single base substitution C T missense_variant R83Q 248G>A UCEC-US 5 114499229 114499229 single base substitution C T missense_variant R95Q 284G>A UCEC-US 5 114499237 114499237 single base substitution T G exon_variant UCEC-US 5 114499237 114499237 single base substitution T G intron_variant UCEC-US 5 114499237 114499237 single base substitution T G missense_variant K80N 240A>C UCEC-US 5 114499237 114499237 single base substitution T G missense_variant K92N 276A>C UCEC-US 5 114513328 114513328 single base substitution G A 3_prime_UTR_variant UCEC-US 5 114513328 114513328 single base substitution G A intron_variant UCEC-US 5 114513328 114513328 single base substitution G A upstream_gene_variant UCEC-US 5 114513447 114513447 single base substitution C A intron_variant UCEC-US 5 114513447 114513447 single base substitution C A stop_lost *62Y 186G>T UCEC-US 5 114513447 114513447 single base substitution C A upstream_gene_variant UCEC-US 5 114513619 114513619 single base substitution G T intron_variant UCEC-US 5 114513619 114513619 single base substitution G T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T3080 COSM3607699 c.436C>T p.R146C Substitution - Missense 5:115147257-115147257 - 8057726 COSM3393083 c.825G>A p.K275K Substitution - coding silent 5:115141321-115141321 - PD9000a COSM5799906 c.557A>T p.H186L Substitution - Missense 5:115147136-115147136 - TCGA-BR-6452-01 COSM4127230 c.1854T>C p.H618H Substitution - coding silent 5:115126836-115126836 - TCGA-B9-5156-01 COSM3993901 c.39C>T p.I13I Substitution - coding silent 5:115179999-115179999 - TCGA-BL-A13J-01 COSM420446 c.1393G>C p.E465Q Substitution - Missense 5:115134001-115134001 - PT13 COSM357619 c.400C>T p.R134* Substitution - Nonsense 5:115147293-115147293 - TCGA-EE-A2MR-06 COSM3607701 c.380G>A p.R127Q Substitution - Missense 5:115147313-115147313 - 6P2-1 COSM3734239 c.1108C>A p.Q370K Substitution - Missense 5:115137376-115137376 - TCGA-EB-A430-01 COSM3607678 c.2007C>T p.F669F Substitution - coding silent 5:115126683-115126683 - TCGA-EE-A2GC-06 COSM3607690 c.1435G>A p.E479K Substitution - Missense 5:115133959-115133959 - TCGA-AX-A0J0-01 COSM1059800 c.2031A>C p.V677V Substitution - coding silent 5:115126659-115126659 - TCGA-34-5231-01 COSM4862262 c.2182A>G p.M728V Substitution - Missense 5:115126508-115126508 - CHC1211T COSM588946 c.1813C>A p.R605R Substitution - coding silent 5:115130611-115130611 - SC_9038 COSM5556580 c.160C>T p.H54Y Substitution - Missense 5:115163656-115163656 - 587316 COSM1230325 c.511T>C p.C171R Substitution - Missense 5:115147182-115147182 - LP6007540-DNA_A01 COSM5033437 c.379C>T p.R127* Substitution - Nonsense 5:115147314-115147314 - C32 COSM4619254 c.9G>T p.E3D Substitution - Missense 5:115180029-115180029 - TCGA-G5-6641-01 COSM1567553 c.1255G>A p.V419M Substitution - Missense 5:115134139-115134139 - S02404 COSM5700851 c.589G>T p.E197* Substitution - Nonsense 5:115147104-115147104 - TCGA-DA-A1IC-06 COSM3607703 c.340C>T p.P114S Substitution - Missense 5:115147353-115147353 - pfg127T COSM4765926 c.1326_1327insA p.D443fs*2 Insertion - Frameshift 5:115134067-115134068 - CCC5T COSM3661324 c.204C>T p.F68F Substitution - coding silent 5:115163612-115163612 - TCGA-C5-A3HE-01 COSM4827919 c.2134C>T p.Q712* Substitution - Nonsense 5:115126556-115126556 - ESCC-011T COSM3941001 c.1805G>A p.R602H Substitution - Missense 5:115130619-115130619 - 92 COSM5011462 c.619C>T p.P207S Substitution - Missense 5:115147074-115147074 - TCGA-EB-A41A-01 COSM3607675 c.2141A>G p.E714G Substitution - Missense 5:115126549-115126549 - TCGA-CG-5721-01 COSM4127232 c.1499G>A p.S500N Substitution - Missense 5:115133895-115133895 - TCGA-29-2427-01 COSM80676 c.1503A>G p.R501R Substitution - coding silent 5:115133891-115133891 - CSCC-35-T COSM4571039 c.371T>C p.L124P Substitution - Missense 5:115147322-115147322 - HCC1395 COSM24049 c.1820_1826delCAGTTAG p.A607fs*27 Deletion - Frameshift 5:115130598-115130604 - 6P2-1 COSM3734240 c.1108C>A p.Q370K Substitution - Missense 5:115137376-115137376 - CSCC-27-T COSM4472881 c.1810C>A p.P604T Substitution - Missense 5:115130614-115130614 - CRC-23T COSM5482627 c.1432T>A p.L478M Substitution - Missense 5:115133962-115133962 - TCGA-B5-A11E-01 COSM1594748 c.2062C>A p.L688I Substitution - Missense 5:115126628-115126628 - 92 COSM5011463 c.619C>T p.P207S Substitution - Missense 5:115147074-115147074 - CRC-23T COSM5482626 c.1432T>A p.L478M Substitution - Missense 5:115133962-115133962 - YUPROST COSM1696054 c.640G>A p.E214K Substitution - Missense 5:115144729-115144729 - CSCC-52-T COSM4565091 c.1734_1735CC>TT p.R579C Substitution - Missense 5:115130689-115130690 - TCGA-EB-A431-01 COSM3607696 c.907T>A p.F303I Substitution - Missense 5:115137577-115137577 - BD5T COSM3661324 c.204C>T p.F68F Substitution - coding silent 5:115163612-115163612 - 8057726 COSM3393084 c.825G>A p.K275K Substitution - coding silent 5:115141321-115141321 - YUJUBE COSM4424365 c.1348C>T p.L450F Substitution - Missense 5:115134046-115134046 - TCGA-B5-A11E-01 COSM1059798 c.2062C>A p.L688I Substitution - Missense 5:115126628-115126628 - HT115 COSM2991758 c.705T>C p.C235C Substitution - coding silent 5:115144664-115144664 - TCGA-CG-5721-01 COSM4127231 c.1499G>A p.S500N Substitution - Missense 5:115133895-115133895 - NCI-H209 COSM24082 c.819_820GG>TT p.Q273_V274>HL Complex - compound substitution 5:115141326-115141327 - 35M COSM5582853 c.1988C>T p.P663L Substitution - Missense 5:115126702-115126702 - TCGA-EE-A29L-06 COSM3607685 c.1606C>T p.R536C Substitution - Missense 5:115130818-115130818 - CHC846T COSM3669361 c.1476G>A p.K492K Substitution - coding silent 5:115133918-115133918 - TCGA-EE-A29L-06 COSM3607686 c.1606C>T p.R536C Substitution - Missense 5:115130818-115130818 - TCGA-BQ-5885-01 COSM3993900 c.1256T>C p.V419A Substitution - Missense 5:115134138-115134138 - TCGA-AX-A0J0-01 COSM1594744 c.944C>A p.S315* Substitution - Nonsense 5:115137540-115137540 - T3024 COSM4736067 c.252G>A p.R84R Substitution - coding silent 5:115163564-115163564 - TCGA-DK-A1AD-01 COSM1310450 c.1572T>C p.N524N Substitution - coding silent 5:115130852-115130852 - TCGA-EE-A29X-06 COSM3607694 c.931G>A p.E311K Substitution - Missense 5:115137553-115137553 - TCGA-EE-A2MJ-06 COSM3607699 c.436C>T p.R146C Substitution - Missense 5:115147257-115147257 - I2L-P7-Tumor-Organoid COSM5356913 c.298+1G>A p.? Unknown 5:115163517-115163517 - TCGA-EE-A181-06 COSM3607684 c.1735C>T p.R579C Substitution - Missense 5:115130689-115130689 - PD22366a COSM3661323 c.204C>T p.F68F Substitution - coding silent 5:115163612-115163612 - TCGA-EB-A431-01 COSM3607695 c.907T>A p.F303I Substitution - Missense 5:115137577-115137577 - BD5T COSM3661323 c.204C>T p.F68F Substitution - coding silent 5:115163612-115163612 - AOCS-086-3-2 COSM4141378 c.975G>T p.K325N Substitution - Missense 5:115137509-115137509 - TCGA-EB-A551-01 COSM3607682 c.1741G>A p.E581K Substitution - Missense 5:115130683-115130683 - PD22366a COSM3661324 c.204C>T p.F68F Substitution - coding silent 5:115163612-115163612 - CSCC-52-T COSM4565090 c.1734_1735CC>TT p.R579C Substitution - Missense 5:115130689-115130690 - PT08_1 COSM3607690 c.1435G>A p.E479K Substitution - Missense 5:115133959-115133959 - TCGA-EB-A551-01 COSM3607681 c.1741G>A p.E581K Substitution - Missense 5:115130683-115130683 - PT27 COSM2991769 c.400C>T p.R134* Substitution - Nonsense 5:115147293-115147293 - TCGA-D3-A5GN-06 COSM3607687 c.1531C>T p.P511S Substitution - Missense 5:115133863-115133863 - 3584_T COSM3946756 c.625-5A>G p.? Unknown 5:115144749-115144749 - ESCC_BICR_022T COSM5443067 c.244C>T p.R82* Substitution - Nonsense 5:115163572-115163572 - T3225 COSM4736068 c.196G>A p.D66N Substitution - Missense 5:115163620-115163620 - TCGA-EE-A2ML-06 COSM228983 c.250C>T p.R84W Substitution - Missense 5:115163566-115163566 - BCM783T COSM4799415 c.106T>C p.C36R Substitution - Missense 5:115163710-115163710 - CSCC-27-T COSM4472882 c.1810C>A p.P604T Substitution - Missense 5:115130614-115130614 - TCGA-E9-A1R5-01 COSM1486220 c.401G>A p.R134Q Substitution - Missense 5:115147292-115147292 - 446 COSM201693 c.284G>A p.R95Q Substitution - Missense 5:115163532-115163532 - AOCS-086-1-5 COSM4141377 c.975G>T p.K325N Substitution - Missense 5:115137509-115137509 - TCGA-09-1659-01 COSM78699 c.428A>T p.E143V Substitution - Missense 5:115147265-115147265 - TCGA-D1-A103-01 COSM1594741 c.284G>A p.R95Q Substitution - Missense 5:115163532-115163532 - 460 COSM4436537 c.1223G>A p.G408E Substitution - Missense 5:115137023-115137023 - ESO-155 COSM1268532 c.1421T>C p.I474T Substitution - Missense 5:115133973-115133973 - TCGA-AA-3663-01 COSM1432581 c.324G>A p.P108P Substitution - coding silent 5:115147369-115147369 - TCGA-H4-A2HQ-01 COSM1310452 c.954G>C p.L318F Substitution - Missense 5:115137530-115137530 - AOCS-086-1-5 COSM4141378 c.975G>T p.K325N Substitution - Missense 5:115137509-115137509 - TCGA-AN-A046-01 COSM201693 c.284G>A p.R95Q Substitution - Missense 5:115163532-115163532 - TCGA-BR-6452-01 COSM4127229 c.1854T>C p.H618H Substitution - coding silent 5:115126836-115126836 - TP_2054 COSM5548306 c.2187G>A p.*729* Substitution - coding silent 5:115126503-115126503 - SNUH_G76_S1 COSM4419678 c.1367A>G p.N456S Substitution - Missense 5:115134027-115134027 - TCGA-EE-A29P-06 COSM3607673 c.2145A>G p.E715E Substitution - coding silent 5:115126545-115126545 - TCGA-EE-A3J5-06 COSM3607706 c.218C>T p.S73L Substitution - Missense 5:115163598-115163598 - TCGA-EJ-5496-01 COSM4876297 c.1562G>A p.C521Y Substitution - Missense 5:115130862-115130862 - TCGA-B9-5156-01 COSM3993902 c.39C>T p.I13I Substitution - coding silent 5:115179999-115179999 - TCGA-EE-A3AA-06 COSM3607708 c.30T>A p.F10L Substitution - Missense 5:115180008-115180008 - EGC15 COSM5060572 c.1652G>A p.R551H Substitution - Missense 5:115130772-115130772 - TCGA-B5-A11N-01 COSM1594746 c.1504G>T p.E502* Substitution - Nonsense 5:115133890-115133890 - 345973 COSM3726460 c.1487G>A p.C496Y Substitution - Missense 5:115133907-115133907 - LIM2405 COSM4642933 c.2116A>T p.M706L Substitution - Missense 5:115126574-115126574 - ESO-155 COSM1268533 c.1421T>C p.I474T Substitution - Missense 5:115133973-115133973 - SNUH_G76_S1 COSM4418413 c.1247-7C>T p.? Unknown 5:115134154-115134154 - C32 COSM4619251 c.556C>A p.H186N Substitution - Missense 5:115147137-115147137 - PT13 COSM2991769 c.400C>T p.R134* Substitution - Nonsense 5:115147293-115147293 - KM12 COSM2991719 c.1628T>C p.F543S Substitution - Missense 5:115130796-115130796 - HT115 COSM2991789 c.81C>T p.I27I Substitution - coding silent 5:115163735-115163735 - HT115 COSM2991757 c.705T>C p.C235C Substitution - coding silent 5:115144664-115144664 - 214 COSM4424366 c.1348C>T p.L450F Substitution - Missense 5:115134046-115134046 - CSCC-27-T COSM4520076 c.1040G>T p.G347V Substitution - Missense 5:115137444-115137444 - YULAN COSM1651387 c.1804C>T p.R602C Substitution - Missense 5:115130620-115130620 - CSCC-32-T COSM4451139 c.1073A>T p.E358V Substitution - Missense 5:115137411-115137411 - 587316 COSM1230324 c.511T>C p.C171R Substitution - Missense 5:115147182-115147182 - CHC1756T COSM5347339 c.1238delT p.F413fs*5 Deletion - Frameshift 5:115137008-115137008 - TCGA-EE-A2ML-06 COSM1696055 c.250C>T p.R84W Substitution - Missense 5:115163566-115163566 - TCGA-BR-8589-01 COSM4127235 c.661A>C p.N221H Substitution - Missense 5:115144708-115144708 - ME009T COSM223026 c.1513C>T p.L505F Substitution - Missense 5:115133881-115133881 - TP_2054 COSM5548307 c.2187G>A p.*729* Substitution - coding silent 5:115126503-115126503 - TCGA-EB-A4P0-01 COSM3607680 c.1957A>G p.N653D Substitution - Missense 5:115126733-115126733 - TCGA-B0-5115-01 COSM1645874 c.163A>T p.K55* Substitution - Nonsense 5:115163653-115163653 - CHC1211T COSM588946 c.1813C>A p.R605R Substitution - coding silent 5:115130611-115130611 - CHC846T COSM3669360 c.1476G>A p.K492K Substitution - coding silent 5:115133918-115133918 - TCGA-AP-A054-01 COSM1059812 c.473A>G p.D158G Substitution - Missense 5:115147220-115147220 - TCGA-H4-A2HQ-01 COSM1310453 c.954G>C p.L318F Substitution - Missense 5:115137530-115137530 - TCGA-G4-6586-01 COSM1432558 c.2120G>A p.G707D Substitution - Missense 5:115126570-115126570 - YUWAND COSM1696052 c.772G>A p.E258K Substitution - Missense 5:115141374-115141374 - PT08_2 COSM3607689 c.1435G>A p.E479K Substitution - Missense 5:115133959-115133959 - TCGA-EE-A2M5-06 COSM3607698 c.484C>T p.P162S Substitution - Missense 5:115147209-115147209 - HCC084T COSM5822223 c.33C>T p.G11G Substitution - coding silent 5:115180005-115180005 - S00837 COSM316140 c.2037C>T p.F679F Substitution - coding silent 5:115126653-115126653 - 2237 COSM1645077 c.1379A>G p.E460G Substitution - Missense 5:115134015-115134015 - TCGA-AX-A0J0-01 COSM1059808 c.944C>A p.S315* Substitution - Nonsense 5:115137540-115137540 - TCGA-CC-A5UC-01 COSM4911963 c.2079G>A p.V693V Substitution - coding silent 5:115126611-115126611 - HT115 COSM2991774 c.318G>T p.L106F Substitution - Missense 5:115147375-115147375 - PD9000a COSM5799907 c.557A>T p.H186L Substitution - Missense 5:115147136-115147136 - T3225 COSM4736069 c.196G>A p.D66N Substitution - Missense 5:115163620-115163620 - TCGA-G4-6586-01 COSM1432559 c.2120G>A p.G707D Substitution - Missense 5:115126570-115126570 - T3024 COSM4736066 c.252G>A p.R84R Substitution - coding silent 5:115163564-115163564 - CHC1211T COSM4954877 c.1813C>A p.R605R Substitution - coding silent 5:115130611-115130611 - 460 COSM4436536 c.1223G>A p.G408E Substitution - Missense 5:115137023-115137023 - TCGA-D1-A103-01 COSM1594745 c.1389G>A p.W463* Substitution - Nonsense 5:115134005-115134005 - SC_9038 COSM5556579 c.160C>T p.H54Y Substitution - Missense 5:115163656-115163656 - 8067541 COSM3784450 c.431G>T p.R144I Substitution - Missense 5:115147262-115147262 - HN_62739 COSM129893 c.1126C>G p.Q376E Substitution - Missense 5:115137120-115137120 - TCGA-G5-6641-01 COSM1567554 c.1255G>A p.V419M Substitution - Missense 5:115134139-115134139 - BD177T COSM1486220 c.401G>A p.R134Q Substitution - Missense 5:115147292-115147292 - HT115 COSM2991788 c.81C>T p.I27I Substitution - coding silent 5:115163735-115163735 - Au5 COSM5606137 c.1534G>A p.V512I Substitution - Missense 5:115133860-115133860 - I2L-P7-Tumor-Organoid COSM5356914 c.298+1G>A p.? Unknown 5:115163517-115163517 - TCGA-DA-A1IC-06 COSM3607704 c.340C>T p.P114S Substitution - Missense 5:115147353-115147353 - SW480 COSM4655917 c.166T>C p.C56R Substitution - Missense 5:115163650-115163650 - TCGA-EE-A2M5-06 COSM3607697 c.484C>T p.P162S Substitution - Missense 5:115147209-115147209 - TCGA-EE-A29X-06 COSM3607693 c.931G>A p.E311K Substitution - Missense 5:115137553-115137553 - TCGA-FS-A1Z3-06 COSM3607692 c.1232C>T p.S411F Substitution - Missense 5:115137014-115137014 - TCGA-39-5029-01 COSM735014 c.1285G>T p.V429F Substitution - Missense 5:115134109-115134109 - TCGA-E3-A3E0-01 COSM3373621 c.602C>A p.P201Q Substitution - Missense 5:115147091-115147091 - BCM783T COSM4799415 c.106T>C p.C36R Substitution - Missense 5:115163710-115163710 - CSCC-17-T COSM4472772 c.1803C>T p.L601L Substitution - coding silent 5:115130621-115130621 - 6T COSM3734239 c.1108C>A p.Q370K Substitution - Missense 5:115137376-115137376 - TCGA-CA-6717-01 COSM1432561 c.1794A>G p.Q598Q Substitution - coding silent 5:115130630-115130630 - HN_62426 COSM126998 c.583C>T p.Q195* Substitution - Nonsense 5:115147110-115147110 - TCGA-EE-A3J5-06 COSM3607705 c.218C>T p.S73L Substitution - Missense 5:115163598-115163598 - S00943 COSM316142 c.1037A>T p.N346I Substitution - Missense 5:115137447-115137447 - TCGA-AF-2693-01 COSM1567556 c.1339A>G p.S447G Substitution - Missense 5:115134055-115134055 - BCM783T COSM4799414 c.106T>C p.C36R Substitution - Missense 5:115163710-115163710 - TCGA-EE-A2MR-06 COSM3607702 c.380G>A p.R127Q Substitution - Missense 5:115147313-115147313 - TCGA-EB-A4P0-01 COSM3607679 c.1957A>G p.N653D Substitution - Missense 5:115126733-115126733 - TCGA-D1-A103-01 COSM1059806 c.1389G>A p.W463* Substitution - Nonsense 5:115134005-115134005 - TCGA-A6-4105-01 COSM1432584 c.112G>T p.E38* Substitution - Nonsense 5:115163704-115163704 - TCGA-Q1-A73P-01 COSM4825812 c.1636C>T p.L546L Substitution - coding silent 5:115130788-115130788 - TCGA-39-5029-01 COSM4858731 c.1285G>T p.V429F Substitution - Missense 5:115134109-115134109 - TCGA-18-3409-01 COSM4861321 c.139C>T p.P47S Substitution - Missense 5:115163677-115163677 - CSCC-17-T COSM4472771 c.1803C>T p.L601L Substitution - coding silent 5:115130621-115130621 - TCGA-D3-A5GN-06 COSM3607688 c.1531C>T p.P511S Substitution - Missense 5:115133863-115133863 - TP_2054 COSM5572411 c.594T>C p.Y198Y Substitution - coding silent 5:115147099-115147099 - TCGA-AX-A0J0-01 COSM1059815 c.276A>C p.K92N Substitution - Missense 5:115163540-115163540 - TCGA-J9-A52C-01 COSM4877357 c.1626A>T p.G542G Substitution - coding silent 5:115130798-115130798 - 345973 COSM3726461 c.1487G>A p.C496Y Substitution - Missense 5:115133907-115133907 - TCGA-AP-A054-01 COSM1594742 c.473A>G p.D158G Substitution - Missense 5:115147220-115147220 - TCGA-E3-A3E0-01 COSM3373620 c.602C>A p.P201Q Substitution - Missense 5:115147091-115147091 - RK195_C01 COSM3768099 c.1656C>G p.I552M Substitution - Missense 5:115130768-115130768 - AOCS-086-3-2 COSM4141377 c.975G>T p.K325N Substitution - Missense 5:115137509-115137509 - PT27 COSM357619 c.400C>T p.R134* Substitution - Nonsense 5:115147293-115147293 - TCGA-A6-4105-01 COSM1432583 c.112G>T p.E38* Substitution - Nonsense 5:115163704-115163704 - D28 COSM5546013 c.860A>T p.E287V Substitution - Missense 5:115141286-115141286 - TCGA-BR-8589-01 COSM4127236 c.661A>C p.N221H Substitution - Missense 5:115144708-115144708 - YUPAT COSM228983 c.250C>T p.R84W Substitution - Missense 5:115163566-115163566 - ESCC_9 COSM5623664 c.1539C>T p.F513F Substitution - coding silent 5:115130885-115130885 - KM12 COSM2991718 c.1628T>C p.F543S Substitution - Missense 5:115130796-115130796 - TCGA-09-2049-01 COSM73066 c.1285G>A p.V429I Substitution - Missense 5:115134109-115134109 - CHC1211T COSM4954877 c.1813C>A p.R605R Substitution - coding silent 5:115130611-115130611 - TCGA-C8-A26Y-01 COSM5221808 c.1971_1972delTA p.N657fs*14 Deletion - Frameshift 5:115126718-115126719 - 446 COSM1594741 c.284G>A p.R95Q Substitution - Missense 5:115163532-115163532 - TCGA-EB-A41A-01 COSM3607676 c.2141A>G p.E714G Substitution - Missense 5:115126549-115126549 - TCGA-13-0730-01 COSM78698 c.485C>T p.P162L Substitution - Missense 5:115147208-115147208 - S02404 COSM5700850 c.589G>T p.E197* Substitution - Nonsense 5:115147104-115147104 - TCGA-EE-A3AA-06 COSM1486220 c.401G>A p.R134Q Substitution - Missense 5:115147292-115147292 - TCGA-C8-A26Y-01 COSM5221809 c.1971_1972delTA p.N657fs*14 Deletion - Frameshift 5:115126718-115126719 - KM12 COSM2991787 c.99C>T p.C33C Substitution - coding silent 5:115163717-115163717 - TCGA-EE-A29P-06 COSM3607674 c.2145A>G p.E715E Substitution - coding silent 5:115126545-115126545 - TCGA-HC-7233-01 COSM3674255 c.1822G>A p.V608I Substitution - Missense 5:115130602-115130602 - EGC15 COSM201681 c.1652G>A p.R551H Substitution - Missense 5:115130772-115130772 - S00837 COSM316140 c.2037C>T p.F679F Substitution - coding silent 5:115126653-115126653 - 2237 COSM1645078 c.1379A>G p.E460G Substitution - Missense 5:115134015-115134015 - BD177T COSM1486219 c.401G>A p.R134Q Substitution - Missense 5:115147292-115147292 - KM12 COSM2991786 c.99C>T p.C33C Substitution - coding silent 5:115163717-115163717 - TCGA-AA-3663-01 COSM1432582 c.324G>A p.P108P Substitution - coding silent 5:115147369-115147369 - YUJUBE COSM4424366 c.1348C>T p.L450F Substitution - Missense 5:115134046-115134046 - S00841 COSM5661986 c.41T>A p.M14K Substitution - Missense 5:115179997-115179997 - ccRCC-86 COSM1664683 c.799C>T p.L267F Substitution - Missense 5:115141347-115141347 - T3080 COSM3607700 c.436C>T p.R146C Substitution - Missense 5:115147257-115147257 - TCGA-EE-A3AA-06 COSM1486219 c.401G>A p.R134Q Substitution - Missense 5:115147292-115147292 - ccRCC-86 COSM1664682 c.799C>T p.L267F Substitution - Missense 5:115141347-115141347 - TCGA-EJ-5496-01 COSM1130963 c.1562G>A p.C521Y Substitution - Missense 5:115130862-115130862 - 6P2-2 COSM3734239 c.1108C>A p.Q370K Substitution - Missense 5:115137376-115137376 - CHC1756T COSM5347338 c.1238delT p.F413fs*5 Deletion - Frameshift 5:115137008-115137008 - TCGA-EE-A181-06 COSM3607683 c.1735C>T p.R579C Substitution - Missense 5:115130689-115130689 - 214 COSM4424365 c.1348C>T p.L450F Substitution - Missense 5:115134046-115134046 - NCI-H1395 COSM24032 c.1339A>T p.S447C Substitution - Missense 5:115134055-115134055 - TCGA-CC-A5UC-01 COSM4911962 c.2079G>A p.V693V Substitution - coding silent 5:115126611-115126611 - SWE-54A COSM1178499 c.2032G>A p.D678N Substitution - Missense 5:115126658-115126658 - TCGA-B5-A11E-01 COSM1059810 c.496G>T p.E166* Substitution - Nonsense 5:115147197-115147197 - TCGA-34-5231-01 COSM735015 c.2182A>G p.M728V Substitution - Missense 5:115126508-115126508 - RK195_C01 COSM3768100 c.1656C>G p.I552M Substitution - Missense 5:115130768-115130768 - YUWAND COSM1696051 c.772G>A p.E258K Substitution - Missense 5:115141374-115141374 - TCGA-AF-2693-01 COSM1567555 c.1339A>G p.S447G Substitution - Missense 5:115134055-115134055 - TCGA-E9-A1R5-01 COSM1486219 c.401G>A p.R134Q Substitution - Missense 5:115147292-115147292 - SNUH_G76_S1 COSM4419679 c.1367A>G p.N456S Substitution - Missense 5:115134027-115134027 - YUPAT COSM1696055 c.250C>T p.R84W Substitution - Missense 5:115163566-115163566 - 8013127 COSM3784449 c.431G>T p.R144I Substitution - Missense 5:115147262-115147262 - C32 COSM4619252 c.556C>A p.H186N Substitution - Missense 5:115147137-115147137 - 6T COSM3734240 c.1108C>A p.Q370K Substitution - Missense 5:115137376-115137376 - HN_63021 COSM129892 c.2159A>G p.K720R Substitution - Missense 5:115126531-115126531 - C32 COSM4619253 c.9G>T p.E3D Substitution - Missense 5:115180029-115180029 - 6P2-2 COSM3734240 c.1108C>A p.Q370K Substitution - Missense 5:115137376-115137376 - RMS111_ COSM4987519 c.230A>G p.N77S Substitution - Missense 5:115163586-115163586 - CSCC-44-T COSM4526141 c.1375G>A p.D459N Substitution - Missense 5:115134019-115134019 - TCGA-B5-A11N-01 COSM1059804 c.1504G>T p.E502* Substitution - Nonsense 5:115133890-115133890 - HCC084T COSM5822224 c.33C>T p.G11G Substitution - coding silent 5:115180005-115180005 - TCGA-HC-7233-01 COSM3674254 c.1822G>A p.V608I Substitution - Missense 5:115130602-115130602 - LIM2405 COSM4642934 c.2116A>T p.M706L Substitution - Missense 5:115126574-115126574 - LUAD-CHTN-3090416 COSM357619 c.400C>T p.R134* Substitution - Nonsense 5:115147293-115147293 - TCGA-DK-A1AD-01 COSM1310451 c.1572T>C p.N524N Substitution - coding silent 5:115130852-115130852 - PT08_1 COSM3607689 c.1435G>A p.E479K Substitution - Missense 5:115133959-115133959 - TCGA-EB-A430-01 COSM3607677 c.2007C>T p.F669F Substitution - coding silent 5:115126683-115126683 - HT115 COSM2991775 c.318G>T p.L106F Substitution - Missense 5:115147375-115147375 - CCC5 COSM3661324 c.204C>T p.F68F Substitution - coding silent 5:115163612-115163612 - RMS111_ COSM4987518 c.230A>G p.N77S Substitution - Missense 5:115163586-115163586 - TCGA-Q1-A73P-01 COSM4825813 c.1636C>T p.L546L Substitution - coding silent 5:115130788-115130788 - SA084 COSM213513 c.947C>G p.S316C Substitution - Missense 5:115137537-115137537 - TCGA-D1-A103-01 COSM201693 c.284G>A p.R95Q Substitution - Missense 5:115163532-115163532 - TCGA-B5-A11E-01 COSM1594743 c.496G>T p.E166* Substitution - Nonsense 5:115147197-115147197 - 8013127 COSM3784450 c.431G>T p.R144I Substitution - Missense 5:115147262-115147262 - SNUH_G76_S1 COSM4418412 c.1247-7C>T p.? Unknown 5:115134154-115134154 - D28 COSM5546012 c.860A>T p.E287V Substitution - Missense 5:115141286-115141286 - BCM783T COSM4799414 c.106T>C p.C36R Substitution - Missense 5:115163710-115163710 - ME044T COSM228983 c.250C>T p.R84W Substitution - Missense 5:115163566-115163566 - CSCC-35-T COSM4571040 c.371T>C p.L124P Substitution - Missense 5:115147322-115147322 - TCGA-AX-A0J0-01 COSM1594747 c.2031A>C p.V677V Substitution - coding silent 5:115126659-115126659 - TCGA-CA-6717-01 COSM1432560 c.1794A>G p.Q598Q Substitution - coding silent 5:115130630-115130630 - TCGA-BG-A0MQ-01 COSM1651387 c.1804C>T p.R602C Substitution - Missense 5:115130620-115130620 - ACC-3 COSM4967618 c.1301T>G p.L434W Substitution - Missense 5:115134093-115134093 - S00841 COSM318176 c.41T>A p.M14K Substitution - Missense 5:115179997-115179997 - 12_tFL COSM4171351 c.1856A>G p.D619G Substitution - Missense 5:115126834-115126834 - YUPROST COSM1696053 c.640G>A p.E214K Substitution - Missense 5:115144729-115144729 - CSCC-44-T COSM4526140 c.1375G>A p.D459N Substitution - Missense 5:115134019-115134019 - TCGA-EE-A3AA-06 COSM3607707 c.30T>A p.F10L Substitution - Missense 5:115180008-115180008 - ESCC_BICR_022T COSM5443068 c.244C>T p.R82* Substitution - Nonsense 5:115163572-115163572 - TCGA-J9-A52C-01 COSM4877358 c.1626A>T p.G542G Substitution - coding silent 5:115130798-115130798 - CSCC-32-T COSM4451138 c.1073A>T p.E358V Substitution - Missense 5:115137411-115137411 - HCC1395 COSM24049 c.1820_1826delCAGTTAG p.A607fs*27 Deletion - Frameshift 5:115130598-115130604 - TP_2054 COSM5572412 c.594T>C p.Y198Y Substitution - coding silent 5:115147099-115147099 - TCGA-AX-A0J0-01 COSM1594740 c.276A>C p.K92N Substitution - Missense 5:115163540-115163540 - TCGA-B0-5115-01 COSM481766 c.163A>T p.K55* Substitution - Nonsense 5:115163653-115163653 - PD8610a COSM5789133 c.1578A>C p.E526D Substitution - Missense 5:115130846-115130846 - TCGA-BT-A20O-01 COSM420445 c.245G>A p.R82Q Substitution - Missense 5:115163571-115163571 - TCGA-FS-A1Z3-06 COSM3607691 c.1232C>T p.S411F Substitution - Missense 5:115137014-115137014 - 35M COSM5582852 c.1988C>T p.P663L Substitution - Missense 5:115126702-115126702 - CSCC-27-T COSM4520077 c.1040G>T p.G347V Substitution - Missense 5:115137444-115137444 - SW480 COSM4655918 c.166T>C p.C56R Substitution - Missense 5:115163650-115163650 - CSCC-49-T COSM4573098 c.970T>G p.S324A Substitution - Missense 5:115137514-115137514 - TCGA-HU-A4GP-01 COSM4127233 c.958G>A p.A320T Substitution - Missense 5:115137526-115137526 - PT08_2 COSM3607690 c.1435G>A p.E479K Substitution - Missense 5:115133959-115133959 - ESCC-011T COSM3941000 c.1805G>A p.R602H Substitution - Missense 5:115130619-115130619 - pfg127T COSM4765925 c.1326_1327insA p.D443fs*2 Insertion - Frameshift 5:115134067-115134068 - TCGA-BT-A20O-01 COSM4812093 c.245G>A p.R82Q Substitution - Missense 5:115163571-115163571 - CSCC-49-T COSM4573099 c.970T>G p.S324A Substitution - Missense 5:115137514-115137514 - CCC5 COSM3661323 c.204C>T p.F68F Substitution - coding silent 5:115163612-115163612 - ESCC_9 COSM5623663 c.1539C>T p.F513F Substitution - coding silent 5:115130885-115130885 - CCC5T COSM3661323 c.204C>T p.F68F Substitution - coding silent 5:115163612-115163612 - YULAN COSM1059802 c.1804C>T p.R602C Substitution - Missense 5:115130620-115130620 - ACC-3 COSM4967617 c.1301T>G p.L434W Substitution - Missense 5:115134093-115134093 - TCGA-BQ-5885-01 COSM3993899 c.1256T>C p.V419A Substitution - Missense 5:115134138-115134138 - 12_tFL COSM4171352 c.1856A>G p.D619G Substitution - Missense 5:115126834-115126834 - S00837 COSM5661270 c.2037C>T p.F679F Substitution - coding silent 5:115126653-115126653 - TCGA-18-3409-01 COSM735013 c.139C>T p.P47S Substitution - Missense 5:115163677-115163677 - PD8610a COSM5789132 c.1578A>C p.E526D Substitution - Missense 5:115130846-115130846 - TCGA-BG-A0MQ-01 COSM1059802 c.1804C>T p.R602C Substitution - Missense 5:115130620-115130620 - TCGA-AN-A046-01 COSM1594741 c.284G>A p.R95Q Substitution - Missense 5:115163532-115163532 - TCGA-EE-A2GC-06 COSM3607689 c.1435G>A p.E479K Substitution - Missense 5:115133959-115133959 - TCGA-EE-A2MJ-06 COSM3607700 c.436C>T p.R146C Substitution - Missense 5:115147257-115147257 - Au5 COSM5606138 c.1534G>A p.V512I Substitution - Missense 5:115133860-115133860 - TCGA-BL-A13J-01 COSM4810651 c.1393G>C p.E465Q Substitution - Missense 5:115134001-115134001 - LP6007540-DNA_A01 COSM5033438 c.379C>T p.R127* Substitution - Nonsense 5:115147314-115147314 - TCGA-HU-A4GP-01 COSM4127234 c.958G>A p.A320T Substitution - Missense 5:115137526-115137526 - 3584_T COSM3946755 c.625-5A>G p.? Unknown 5:115144749-115144749 - TCGA-C5-A3HE-01 COSM4827920 c.2134C>T p.Q712* Substitution - Nonsense 5:115126556-115126556 - 8067541 COSM3784449 c.431G>T p.R144I Substitution - Missense 5:115147262-115147262 - S00936 COSM316141 c.86G>A p.R29K Substitution - Missense 5:115163730-115163730 - S00841 COSM318176 c.41T>A p.M14K Substitution - Missense 5:115179997-115179997 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.519514 5q22.3 609317 Hs.638936;Hs.638938;Hs.638939;Hs.638940;Hs.638941;Hs.638942;Hs.638944;Hs.638945;Hs.638946;Hs.638947;Hs.638948;Hs.638949;Hs.638951;Hs.638952;Hs.638953 5q22.3 609317

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F575V c.1723T>G 5 114466398 LUAD A C Synonymous p.S414S c.1242T>G 5 114472701 MM A G IntronicSNV . c.1534+1211T>C 5 114468346 CLL A G Missense p.F385L c.1153T>C 5 114472790 HNSC A G Missense p.I474T c.1421T>C 5 114469670 ESCA A G Missense p.V591A c.1772T>C 5 114466349 CM A G Synonymous p.N524N c.1572T>C 5 114466549 BLCA A T Missense p.F10L c.30T>A 5 114515705 CM A T Missense p.M14K c.41T>A 5 114515694 SCLC CAGTTAG - Frameshift p.A607Vfs*27 c.1820_1826delCAGTTAG 5 114466295 BRCA C A Missense p.V429F c.1285G>T 5 114469806 LUSC C G Missense p.E465Q c.1393G>C 5 114469698 BLCA C G Missense p.L318F c.954G>C 5 114473227 BLCA C T IntronicSNV . c.63+2143G>A 5 114513529 RCCC C T Missense p.C521Y c.1562G>A 5 114466559 PRAD C T Missense p.D566N c.1696G>A 5 114466425 CM C T Missense p.E311K c.931G>A 5 114473250 CM C T Missense p.E479K c.1435G>A 5 114469656 CM C T Missense p.G707S c.2119G>A 5 114462268 HNSC C T Missense p.R134Q c.401G>A 5 114482989 BRCA C T Missense p.R134Q c.401G>A 5 114482989 CM C T Missense p.R29K c.86G>A 5 114499427 SCLC C T Missense p.R82Q c.245G>A 5 114499268 BLCA C T Missense p.V429I c.1285G>A 5 114469806 OV C T Missense p.V608I c.1822G>A 5 114466299 PRAD C T Synonymous p.G617G c.1851G>A 5 114462536 CM G A IntronicSNV . c.63+2140C>T 5 114513532 CM G A Missense p.H186Y c.556C>T 5 114482834 BRCA G A Missense p.L505F c.1513C>T 5 114469578 CM G A Missense p.P114S c.340C>T 5 114483050 CM G A Missense p.P162L c.485C>T 5 114482905 OV G A Missense p.P162S c.484C>T 5 114482906 CM G A Missense p.P88S c.262C>T 5 114499251 CM G A Missense p.R146C c.436C>T 5 114482954 CM G A Missense p.R536C c.1606C>T 5 114466515 CM G A Missense p.R579C c.1735C>T 5 114466386 CM G A Missense p.R602C c.1804C>T 5 114466317 UCEC G A Missense p.R84W c.250C>T 5 114499263 CM G A Missense p.S392F c.1175C>T 5 114472768 CM G A Missense p.S411F c.1232C>T 5 114472711 CM G A Missense p.S73L c.218C>T 5 114499295 CM G A Nonsense p.Q195* c.583C>T 5 114482807 HNSC G A Synonymous p.F136F c.408C>T 5 114482982 LUAD G A Synonymous p.F679F c.2037C>T 5 114462350 SCLC G A Synonymous p.I552I c.1656C>T 5 114466465 CM G A Synonymous p.Y266Y c.798C>T 5 114477045 CM G C Missense p.I495M c.1485C>G 5 114469606 HNSC G C Missense p.P632A c.1894C>G 5 114462493 COREAD G C Missense p.Q376E c.1126C>G 5 114472817 HNSC G C Missense p.R82G c.244C>G 5 114499269 HNSC G C Missense p.S316C c.947C>G 5 114473234 BRCA G T Missense p.P201Q c.602C>A 5 114482788 THCA G T Synonymous p.L60L c.180C>A 5 114499333 CLL G T Synonymous p.R605R c.1813C>A 5 114466308 LUAD T A Missense p.E143V c.428A>T 5 114482962 OV T A Missense p.N346I c.1037A>T 5 114473144 SCLC T A Nonsense p.K55* c.163A>T 5 114499350 RCCC T C Missense p.D158G c.473A>G 5 114482917 UCEC T C Missense p.K720R c.2159A>G 5 114462228 HNSC T C Missense p.M728V c.2182A>G 5 114462205 LUSC T C Missense p.T153A c.457A>G 5 114482933 LUAD T C Synonymous p.E715E c.2145A>G 5 114462242 CM T C Synonymous p.K596K c.1788A>G 5 114466333 ALL T C Synonymous p.R501R c.1503A>G 5 114469588 OV