Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 22 29444383 29444383 + Missense_Mutation SNP C C T TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr22:29444383C>T c.919C>T c.(919-921)Cgg>Tgg p.R307W ACC 22 29444479 29444480 + Splice_Site DNP GG GG TT TCGA-P6-A5OF-01A-11D-A29I-10 TCGA-P6-A5OF-10A-01D-A29L-10 g.chr22:29444479_29444480GG>TT c.1015_1015GG>TT c.(1015-1017)GGga>TTgga p.G339L ACC 22 29445345 29445345 + Frame_Shift_Del DEL C C - TCGA-OR-A5LB-01A-11D-A29I-10 TCGA-OR-A5LB-10A-01D-A29L-10 g.chr22:29445345delC c.1176delC c.(1174-1176)aacfs p.N392fs BLCA 22 29442753 29442753 + Missense_Mutation SNP G G A TCGA-DK-AA77-01A-11D-A391-08 TCGA-DK-AA77-10A-01D-A394-08 g.chr22:29442753G>A c.794G>A c.(793-795)aGa>aAa p.R265K BLCA 22 29442814 29442814 + Silent SNP C C T TCGA-4Z-AA7Q-01A-11D-A391-08 TCGA-4Z-AA7Q-10A-01D-A394-08 g.chr22:29442814C>T c.855C>T c.(853-855)ctC>ctT p.L285L BLCA 22 29445244 29445244 + Missense_Mutation SNP C C G TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr22:29445244C>G c.1075C>G c.(1075-1077)Cag>Gag p.Q359E BLCA 22 29445779 29445779 + Missense_Mutation SNP C C T TCGA-BT-A2LA-01A-11D-A18F-08 TCGA-BT-A2LA-11A-11D-A18F-08 g.chr22:29445779C>T c.1610C>T c.(1609-1611)tCg>tTg p.S537L BLCA 22 29446217 29446217 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 g.chr22:29446217C>T c.2048C>T c.(2047-2049)tCa>tTa p.S683L BRCA 22 29439324 29439324 + Missense_Mutation SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr22:29439324T>G c.539T>G c.(538-540)gTg>gGg p.V180G BRCA 22 29442769 29442769 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr22:29442769G>C c.810G>C c.(808-810)aaG>aaC p.K270N BRCA 22 29442853 29442853 + Missense_Mutation SNP G G C TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr22:29442853G>C c.894G>C c.(892-894)gaG>gaC p.E298D BRCA 22 29445235 29445235 + Missense_Mutation SNP C C T TCGA-B6-A0WX-01A-11D-A10G-09 TCGA-B6-A0WX-10A-01D-A10G-09 g.chr22:29445235C>T c.1066C>T c.(1066-1068)Cgt>Tgt p.R356C BRCA 22 29445639 29445639 + Silent SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr22:29445639C>G c.1470C>G c.(1468-1470)ctC>ctG p.L490L BRCA 22 29445672 29445672 + Silent SNP G G A TCGA-E2-A15C-01A-31D-A12B-09 TCGA-E2-A15C-10A-01D-A12B-09 g.chr22:29445672G>A c.1503G>A c.(1501-1503)ccG>ccA p.P501P BRCA 22 29446501 29446501 + Missense_Mutation SNP C C T TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr22:29446501C>T c.2332C>T c.(2332-2334)Ccc>Tcc p.P778S CESC 22 29446272 29446272 + Nonsense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 g.chr22:29446272G>A c.2103G>A c.(2101-2103)tgG>tgA p.W701* CHOL 22 29440787 29440787 + Missense_Mutation SNP A A G TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr22:29440787A>G c.653A>G c.(652-654)gAc>gGc p.D218G CHOL 22 29445659 29445659 + Missense_Mutation SNP G G A TCGA-ZU-A8S4-01A-11D-A417-09 TCGA-ZU-A8S4-10A-01D-A41A-09 g.chr22:29445659G>A c.1490G>A c.(1489-1491)cGt>cAt p.R497H COAD 22 29383093 29383093 + Silent SNP T T C TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr22:29383093T>C c.330T>C c.(328-330)aaT>aaC p.N110N COAD 22 29383171 29383171 + Silent SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr22:29383171C>T c.408C>T c.(406-408)tgC>tgT p.C136C COAD 22 29439321 29439321 + Missense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr22:29439321C>T c.536C>T c.(535-537)cCg>cTg p.P179L COAD 22 29439348 29439348 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr22:29439348C>T c.563C>T c.(562-564)gCc>gTc p.A188V COAD 22 29439408 29439408 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr22:29439408G>A c.623G>A c.(622-624)cGc>cAc p.R208H COAD 22 29440867 29440867 + Nonsense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr22:29440867C>T c.733C>T c.(733-735)Cga>Tga p.R245* COAD 22 29442780 29442780 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr22:29442780G>A c.821G>A c.(820-822)cGc>cAc p.R274H COAD 22 29442797 29442797 + Frame_Shift_Del DEL G G - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr22:29442797delG c.838delG c.(838-840)gggfs p.G280fs COAD 22 29445208 29445209 + Frame_Shift_Del DEL GT GT - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr22:29445208_29445209delGT c.1039_1040delGT c.(1039-1041)gtgfs p.V347fs COAD 22 29445468 29445468 + Silent SNP C C T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr22:29445468C>T c.1299C>T c.(1297-1299)tgC>tgT p.C433C COAD 22 29445643 29445643 + Frame_Shift_Del DEL C C - TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr22:29445643delC c.1474delC c.(1474-1476)cccfs p.P492fs COAD 22 29446744 29446744 + Nonsense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr22:29446744C>T c.2575C>T c.(2575-2577)Cga>Tga p.R859* COADREAD 22 29383093 29383093 + Silent SNP T T C TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr22:29383093T>C c.330T>C c.(328-330)aaT>aaC p.N110N COADREAD 22 29383171 29383171 + Silent SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr22:29383171C>T c.408C>T c.(406-408)tgC>tgT p.C136C COADREAD 22 29439321 29439321 + Missense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr22:29439321C>T c.536C>T c.(535-537)cCg>cTg p.P179L COADREAD 22 29439348 29439348 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr22:29439348C>T c.563C>T c.(562-564)gCc>gTc p.A188V COADREAD 22 29439408 29439408 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr22:29439408G>A c.623G>A c.(622-624)cGc>cAc p.R208H COADREAD 22 29440867 29440867 + Nonsense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr22:29440867C>T c.733C>T c.(733-735)Cga>Tga p.R245* COADREAD 22 29442780 29442780 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr22:29442780G>A c.821G>A c.(820-822)cGc>cAc p.R274H COADREAD 22 29442797 29442797 + Frame_Shift_Del DEL G G - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr22:29442797delG c.838delG c.(838-840)gggfs p.G280fs COADREAD 22 29445208 29445209 + Frame_Shift_Del DEL GT GT - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr22:29445208_29445209delGT c.1039_1040delGT c.(1039-1041)gtgfs p.V347fs COADREAD 22 29445468 29445468 + Silent SNP C C T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr22:29445468C>T c.1299C>T c.(1297-1299)tgC>tgT p.C433C COADREAD 22 29445643 29445643 + Frame_Shift_Del DEL C C - TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr22:29445643delC c.1474delC c.(1474-1476)cccfs p.P492fs COADREAD 22 29446744 29446744 + Nonsense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr22:29446744C>T c.2575C>T c.(2575-2577)Cga>Tga p.R859* DLBC 22 29445817 29445817 + Missense_Mutation SNP G G A TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr22:29445817G>A c.1648G>A c.(1648-1650)Gac>Aac p.D550N ESCA 22 29446744 29446744 + Nonsense_Mutation SNP C C T TCGA-VR-AA7B-01A-31D-A403-09 TCGA-VR-AA7B-10A-01D-A403-09 g.chr22:29446744C>T c.2575C>T c.(2575-2577)Cga>Tga p.R859* GBM 22 29440867 29440867 + Nonsense_Mutation SNP C C T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 g.chr22:29440867C>T c.733C>T c.(733-735)Cga>Tga p.R245* GBMLGG 22 29440867 29440867 + Nonsense_Mutation SNP C C T TCGA-12-0821-01A-01W-0424-08 TCGA-12-0821-10A-01W-0424-08 g.chr22:29440867C>T c.733C>T c.(733-735)Cga>Tga p.R245* GBMLGG 22 29446342 29446342 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:29446342G>A c.2173G>A c.(2173-2175)Gcc>Acc p.A725T GBMLGG 22 29446491 29446491 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:29446491C>T c.2322C>T c.(2320-2322)taC>taT p.Y774Y HNSC 22 29439334 29439334 + Silent SNP G G A TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr22:29439334G>A c.549G>A c.(547-549)gtG>gtA p.V183V HNSC 22 29442723 29442723 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 g.chr22:29442723C>A c.764C>A c.(763-765)gCt>gAt p.A255D HNSC 22 29442737 29442737 + Missense_Mutation SNP G G C TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr22:29442737G>C c.778G>C c.(778-780)Gag>Cag p.E260Q HNSC 22 29444377 29444377 + Splice_Site SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 g.chr22:29444377G>A c.913G>A c.(913-915)Gag>Aag p.E305K HNSC 22 29445592 29445592 + Nonsense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 g.chr22:29445592C>T c.1423C>T c.(1423-1425)Cag>Tag p.Q475* HNSC 22 29445853 29445853 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr22:29445853T>A c.1684T>A c.(1684-1686)Tgt>Agt p.C562S HNSC 22 29445929 29445929 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr22:29445929G>A c.1760G>A c.(1759-1761)cGc>cAc p.R587H HNSC 22 29446049 29446049 + Missense_Mutation SNP C C G TCGA-CQ-6220-01A-11D-1912-08 TCGA-CQ-6220-10A-01D-1912-08 g.chr22:29446049C>G c.1880C>G c.(1879-1881)tCc>tGc p.S627C HNSC 22 29446545 29446546 + Frame_Shift_Ins INS - - G TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 g.chr22:29446545_29446546insG c.2376_2377insG c.(2377-2379)gggfs p.G793fs KIPAN 22 29445350 29445350 + Missense_Mutation SNP T T C TCGA-BQ-7060-01A-11D-1961-08 TCGA-BQ-7060-11A-01D-1961-08 g.chr22:29445350T>C c.1181T>C c.(1180-1182)gTc>gCc p.V394A KIPAN 22 29445610 29445610 + Missense_Mutation SNP G G A TCGA-2Z-A9JM-01A-12D-A42J-10 TCGA-2Z-A9JM-10A-01D-A42M-10 g.chr22:29445610G>A c.1441G>A c.(1441-1443)Gag>Aag p.E481K KIPAN 22 29445639 29445639 + Silent SNP C C A TCGA-A4-7286-01A-11D-2136-08 TCGA-A4-7286-10A-01D-2136-08 g.chr22:29445639C>A c.1470C>A c.(1468-1470)ctC>ctA p.L490L KIPAN 22 29445939 29445939 + Silent SNP C C G TCGA-DW-7840-01A-11D-2136-08 TCGA-DW-7840-10A-01D-2136-08 g.chr22:29445939C>G c.1770C>G c.(1768-1770)ctC>ctG p.L590L KIRP 22 29445350 29445350 + Missense_Mutation SNP T T C TCGA-BQ-7060-01A-11D-1961-08 TCGA-BQ-7060-11A-01D-1961-08 g.chr22:29445350T>C c.1181T>C c.(1180-1182)gTc>gCc p.V394A KIRP 22 29445610 29445610 + Missense_Mutation SNP G G A TCGA-2Z-A9JM-01A-12D-A42J-10 TCGA-2Z-A9JM-10A-01D-A42M-10 g.chr22:29445610G>A c.1441G>A c.(1441-1443)Gag>Aag p.E481K KIRP 22 29445639 29445639 + Silent SNP C C A TCGA-A4-7286-01A-11D-2136-08 TCGA-A4-7286-10A-01D-2136-08 g.chr22:29445639C>A c.1470C>A c.(1468-1470)ctC>ctA p.L490L KIRP 22 29445939 29445939 + Silent SNP C C G TCGA-DW-7840-01A-11D-2136-08 TCGA-DW-7840-10A-01D-2136-08 g.chr22:29445939C>G c.1770C>G c.(1768-1770)ctC>ctG p.L590L LGG 22 29446342 29446342 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:29446342G>A c.2173G>A c.(2173-2175)Gcc>Acc p.A725T LGG 22 29446491 29446491 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:29446491C>T c.2322C>T c.(2320-2322)taC>taT p.Y774Y LIHC 22 29438502 29438502 + Missense_Mutation SNP G G C TCGA-DD-A39V-01A-11D-A20W-10 TCGA-DD-A39V-11A-11D-A20W-10 g.chr22:29438502G>C c.446G>C c.(445-447)cGg>cCg p.R149P LIHC 22 29439309 29439309 + Missense_Mutation SNP C C A TCGA-DD-AACF-01A-11D-A40R-10 TCGA-DD-AACF-10A-01D-A40U-10 g.chr22:29439309C>A c.524C>A c.(523-525)cCg>cAg p.P175Q LIHC 22 29440871 29440871 + Missense_Mutation SNP G G A TCGA-DD-A4NO-01A-11D-A28X-10 TCGA-DD-A4NO-10A-01D-A28X-10 g.chr22:29440871G>A c.737G>A c.(736-738)cGc>cAc p.R246H LIHC 22 29445350 29445350 + Missense_Mutation SNP T T C TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr22:29445350T>C c.1181T>C c.(1180-1182)gTc>gCc p.V394A LIHC 22 29445468 29445469 + Frame_Shift_Ins INS - - GGCCA TCGA-ZS-A9CD-01A-11D-A36X-10 TCGA-ZS-A9CD-10A-01D-A370-10 g.chr22:29445468_29445469insGGCCA c.1299_1300insGGCCA c.(1300-1302)ggcfs p.-434fs LIHC 22 29445870 29445871 + Frame_Shift_Del DEL TG TG - TCGA-FV-A2QQ-01A-11D-A22F-10 TCGA-FV-A2QQ-10B-01D-A22F-10 g.chr22:29445870_29445871delTG c.1701_1702delTG c.(1699-1704)tctgtgfs p.V569fs LUAD 22 29439407 29439407 + Missense_Mutation SNP C C T TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr22:29439407C>T c.622C>T c.(622-624)Cgc>Tgc p.R208C LUAD 22 29445223 29445223 + Missense_Mutation SNP A A G TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr22:29445223A>G c.1054A>G c.(1054-1056)Agc>Ggc p.S352G LUAD 22 29445929 29445929 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 g.chr22:29445929G>T c.1760G>T c.(1759-1761)cGc>cTc p.R587L LUAD 22 29446375 29446375 + Missense_Mutation SNP G G T TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr22:29446375G>T c.2206G>T c.(2206-2208)Ggg>Tgg p.G736W LUAD 22 29446408 29446408 + Missense_Mutation SNP G G C TCGA-99-8025-01A-11D-2238-08 TCGA-99-8025-10A-01D-2238-08 g.chr22:29446408G>C c.2239G>C c.(2239-2241)Ggt>Cgt p.G747R LUAD 22 29446751 29446751 + Missense_Mutation SNP C C T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 g.chr22:29446751C>T c.2582C>T c.(2581-2583)cCg>cTg p.P861L LUAD 22 29446903 29446903 + Missense_Mutation SNP C C A TCGA-NJ-A4YF-01A-12D-A25L-08 TCGA-NJ-A4YF-10A-01D-A25L-08 g.chr22:29446903C>A c.2734C>A c.(2734-2736)Cag>Aag p.Q912K LUSC 22 29442802 29442802 + Silent SNP C C T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 g.chr22:29442802C>T c.843C>T c.(841-843)gcC>gcT p.A281A LUSC 22 29445418 29445418 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr22:29445418C>T c.1249C>T c.(1249-1251)Cgc>Tgc p.R417C LUSC 22 29445639 29445639 + Silent SNP C C T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 g.chr22:29445639C>T c.1470C>T c.(1468-1470)ctC>ctT p.L490L LUSC 22 29445798 29445820 + Frame_Shift_Del DEL GGCCGACTGCCCAGGCAGCGACA GGCCGACTGCCCAGGCAGCGACA - TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 g.chr22:29445798_29445820delGGCCGACTGCCCAGGCAGCGACA c.1629_1651delGGCCGACTGCCCAGGCAGCGACA c.(1627-1653)ctggccgactgcccaggcagcgacagcfs p.ADCPGSDS544fs LUSC 22 29446217 29446217 + Missense_Mutation SNP C C T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 g.chr22:29446217C>T c.2048C>T c.(2047-2049)tCa>tTa p.S683L OV 22 29445294 29445294 + Silent SNP C C G TCGA-24-1463-01A-01W-0549-09 TCGA-24-1463-10A-01W-0549-09 g.chr22:29445294C>G c.1125C>G c.(1123-1125)acC>acG p.T375T PAAD 22 29439358 29439358 + Silent SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 g.chr22:29439358G>A c.573G>A c.(571-573)ctG>ctA p.L191L PAAD 22 29445400 29445400 + Nonsense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 g.chr22:29445400C>T c.1231C>T c.(1231-1233)Cag>Tag p.Q411* PAAD 22 29445738 29445738 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr22:29445738C>T c.1569C>T c.(1567-1569)agC>agT p.S523S PAAD 22 29446300 29446300 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr22:29446300G>A c.2131G>A c.(2131-2133)Gcc>Acc p.A711T PAAD 22 29446426 29446426 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr22:29446426G>A c.2257G>A c.(2257-2259)Gga>Aga p.G753R PRAD 22 29438481 29438481 + Splice_Site SNP A A G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 g.chr22:29438481A>G c.e3-1 PRAD 22 29444421 29444421 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr22:29444421C>T c.957C>T c.(955-957)tgC>tgT p.C319C SARC 22 29446776 29446776 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 g.chr22:29446776C>T c.2607C>T c.(2605-2607)ggC>ggT p.G869G SKCM 22 29383122 29383122 + Missense_Mutation SNP G G T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr22:29383122G>T c.359G>T c.(358-360)tGg>tTg p.W120L SKCM 22 29383157 29383157 + Missense_Mutation SNP G G A TCGA-EE-A3J4-06A-11D-A20D-08 TCGA-EE-A3J4-10A-01D-A20D-08 g.chr22:29383157G>A c.394G>A c.(394-396)Gac>Aac p.D132N SKCM 22 29440777 29440777 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr22:29440777G>A c.643G>A c.(643-645)Gaa>Aaa p.E215K SKCM 22 29444428 29444428 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr22:29444428C>T c.964C>T c.(964-966)Ccc>Tcc p.P322S SKCM 22 29445491 29445491 + Missense_Mutation SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr22:29445491C>T c.1322C>T c.(1321-1323)tCc>tTc p.S441F SKCM 22 29445492 29445492 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr22:29445492C>T c.1323C>T c.(1321-1323)tcC>tcT p.S441S SKCM 22 29445668 29445668 + Missense_Mutation SNP C C T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr22:29445668C>T c.1499C>T c.(1498-1500)cCt>cTt p.P500L SKCM 22 29445697 29445697 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr22:29445697C>T c.1528C>T c.(1528-1530)Ccc>Tcc p.P510S SKCM 22 29445766 29445766 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr22:29445766C>T c.1597C>T c.(1597-1599)Cac>Tac p.H533Y SKCM 22 29445936 29445936 + Silent SNP C C T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 g.chr22:29445936C>T c.1767C>T c.(1765-1767)tcC>tcT p.S589S SKCM 22 29446055 29446055 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr22:29446055C>T c.1886C>T c.(1885-1887)cCt>cTt p.P629L SKCM 22 29446228 29446228 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr22:29446228C>T c.2059C>T c.(2059-2061)Ctc>Ttc p.L687F SKCM 22 29446318 29446318 + Nonsense_Mutation SNP C C T TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr22:29446318C>T c.2149C>T c.(2149-2151)Cag>Tag p.Q717* SKCM 22 29446435 29446435 + Nonsense_Mutation SNP C C T TCGA-FR-A69P-06A-21D-A30X-08 TCGA-FR-A69P-10A-01D-A30X-08 g.chr22:29446435C>T c.2266C>T c.(2266-2268)Cag>Tag p.Q756* SKCM 22 29446881 29446881 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr22:29446881C>T c.2712C>T c.(2710-2712)ttC>ttT p.F904F SKCM 22 29446917 29446917 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr22:29446917C>T c.2748C>T c.(2746-2748)acC>acT p.T916T

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 22 29383125 29383125 single base substitution T G missense_variant V121G 362T>G BLCA-CN 22 29383125 29383125 single base substitution T G missense_variant V21G 62T>G BLCA-CN 22 29454947 29454947 single base substitution G A downstream_gene_variant BLCA-US 22 29445244 29445244 single base substitution C G missense_variant Q259E 775C>G BLCA-US 22 29445244 29445244 single base substitution C G missense_variant Q359E 1075C>G BOCA-FR 22 29300077 29300077 single base substitution A C intron_variant BOCA-FR 22 29311832 29311832 single base substitution C T intron_variant BOCA-FR 22 29311832 29311832 single base substitution C T upstream_gene_variant BOCA-FR 22 29336189 29336189 single base substitution A T intron_variant BOCA-FR 22 29408101 29408101 single base substitution C T intron_variant BOCA-FR 22 29408186 29408186 single base substitution C T intron_variant BOCA-FR 22 29409582 29409582 single base substitution C G intron_variant BOCA-FR 22 29446797 29446797 single base substitution G A synonymous_variant E776E 2328G>A BOCA-FR 22 29446797 29446797 single base substitution G A synonymous_variant E876E 2628G>A BOCA-FR 22 29449354 29449354 single base substitution G C intron_variant BRCA-EU 22 29276933 29276933 single base substitution C G upstream_gene_variant BRCA-EU 22 29277636 29277636 single base substitution C A upstream_gene_variant BRCA-EU 22 29277700 29277700 single base substitution C T upstream_gene_variant BRCA-EU 22 29277931 29277931 single base substitution A G upstream_gene_variant BRCA-EU 22 29278262 29278262 single base substitution G C upstream_gene_variant BRCA-EU 22 29278373 29278376 deletion of <=200bp TTTC - upstream_gene_variant BRCA-EU 22 29279140 29279140 single base substitution C T upstream_gene_variant BRCA-EU 22 29280895 29280895 single base substitution A T intron_variant BRCA-EU 22 29282057 29282057 single base substitution C G intron_variant BRCA-EU 22 29282495 29282495 single base substitution G A intron_variant BRCA-EU 22 29283554 29283554 single base substitution C G intron_variant BRCA-EU 22 29283648 29283648 single base substitution T A intron_variant BRCA-EU 22 29286766 29286766 deletion of <=200bp G - intron_variant BRCA-EU 22 29287174 29287174 single base substitution A T intron_variant BRCA-EU 22 29287175 29287175 single base substitution A T intron_variant BRCA-EU 22 29295766 29295766 single base substitution C A intron_variant BRCA-EU 22 29297236 29297236 single base substitution C T intron_variant BRCA-EU 22 29297454 29297454 single base substitution G C intron_variant BRCA-EU 22 29298080 29298080 single base substitution A T intron_variant BRCA-EU 22 29306175 29306175 single base substitution C A intron_variant BRCA-EU 22 29306191 29306191 insertion of <=200bp - T intron_variant BRCA-EU 22 29306472 29306472 single base substitution C G intron_variant BRCA-EU 22 29306628 29306628 single base substitution T G intron_variant BRCA-EU 22 29307419 29307419 single base substitution C T intron_variant BRCA-EU 22 29307812 29307812 single base substitution G A intron_variant BRCA-EU 22 29308014 29308014 single base substitution G C intron_variant BRCA-EU 22 29308121 29308121 single base substitution G C intron_variant BRCA-EU 22 29309991 29309991 single base substitution C G intron_variant BRCA-EU 22 29309991 29309991 single base substitution C G upstream_gene_variant BRCA-EU 22 29310268 29310268 single base substitution G T intron_variant BRCA-EU 22 29310268 29310268 single base substitution G T upstream_gene_variant BRCA-EU 22 29313080 29313080 single base substitution T G intron_variant BRCA-EU 22 29313080 29313080 single base substitution T G upstream_gene_variant BRCA-EU 22 29313512 29313512 single base substitution C G intron_variant BRCA-EU 22 29313514 29313514 single base substitution C T intron_variant BRCA-EU 22 29314353 29314353 deletion of <=200bp C - intron_variant BRCA-EU 22 29315128 29315128 single base substitution A C intron_variant BRCA-EU 22 29316394 29316394 single base substitution G A intron_variant BRCA-EU 22 29318467 29318467 single base substitution C T intron_variant BRCA-EU 22 29318754 29318754 insertion of <=200bp - C intron_variant BRCA-EU 22 29319824 29319824 single base substitution G T intron_variant BRCA-EU 22 29319828 29319828 single base substitution C A intron_variant BRCA-EU 22 29319947 29319947 single base substitution C G intron_variant BRCA-EU 22 29322057 29322057 single base substitution G A intron_variant BRCA-EU 22 29322064 29322064 single base substitution A G intron_variant BRCA-EU 22 29323277 29323277 single base substitution C G intron_variant BRCA-EU 22 29326130 29326130 deletion of <=200bp T - intron_variant BRCA-EU 22 29326130 29326130 insertion of <=200bp - T intron_variant BRCA-EU 22 29326287 29326287 single base substitution A G intron_variant BRCA-EU 22 29327849 29327849 single base substitution A C intron_variant BRCA-EU 22 29328643 29328643 single base substitution C G intron_variant BRCA-EU 22 29329768 29329768 single base substitution C T intron_variant BRCA-EU 22 29330132 29330132 single base substitution G T intron_variant BRCA-EU 22 29332900 29332900 single base substitution C A intron_variant BRCA-EU 22 29334149 29334149 insertion of <=200bp - T intron_variant BRCA-EU 22 29334428 29334428 single base substitution G A intron_variant BRCA-EU 22 29334959 29334959 single base substitution C T intron_variant BRCA-EU 22 29335000 29335000 single base substitution C T intron_variant BRCA-EU 22 29335588 29335588 single base substitution C G intron_variant BRCA-EU 22 29336402 29336402 single base substitution G C intron_variant BRCA-EU 22 29336652 29336652 single base substitution C T intron_variant BRCA-EU 22 29336785 29336785 single base substitution C G intron_variant BRCA-EU 22 29336969 29336969 single base substitution C G intron_variant BRCA-EU 22 29337838 29337838 single base substitution G T intron_variant BRCA-EU 22 29340415 29340415 single base substitution C A intron_variant BRCA-EU 22 29341496 29341496 single base substitution A C intron_variant BRCA-EU 22 29341589 29341589 single base substitution C A intron_variant BRCA-EU 22 29343657 29343657 single base substitution G A intron_variant BRCA-EU 22 29344151 29344151 single base substitution A T intron_variant BRCA-EU 22 29344159 29344159 single base substitution A T intron_variant BRCA-EU 22 29344166 29344166 single base substitution T A intron_variant BRCA-EU 22 29344861 29344861 single base substitution A C intron_variant BRCA-EU 22 29345477 29345477 single base substitution G T intron_variant BRCA-EU 22 29345940 29345940 single base substitution C T intron_variant BRCA-EU 22 29347053 29347053 single base substitution C A intron_variant BRCA-EU 22 29348008 29348008 single base substitution G A intron_variant BRCA-EU 22 29348453 29348453 single base substitution T C intron_variant BRCA-EU 22 29351594 29351594 single base substitution G A intron_variant BRCA-EU 22 29352222 29352222 single base substitution T C intron_variant BRCA-EU 22 29352226 29352226 single base substitution C A intron_variant BRCA-EU 22 29353016 29353016 single base substitution A G intron_variant BRCA-EU 22 29353391 29353391 single base substitution A T intron_variant BRCA-EU 22 29354077 29354077 single base substitution G A intron_variant BRCA-EU 22 29354893 29354893 single base substitution C G intron_variant BRCA-EU 22 29355914 29355914 single base substitution G C intron_variant BRCA-EU 22 29356763 29356763 single base substitution C G intron_variant BRCA-EU 22 29356840 29356840 single base substitution C G intron_variant BRCA-EU 22 29358950 29358950 single base substitution T A intron_variant BRCA-EU 22 29359941 29359941 single base substitution G C intron_variant BRCA-EU 22 29361911 29361911 single base substitution G C intron_variant BRCA-EU 22 29362643 29362643 insertion of <=200bp - A intron_variant BRCA-EU 22 29363480 29363480 single base substitution T C intron_variant BRCA-EU 22 29366825 29366825 single base substitution G C intron_variant BRCA-EU 22 29367517 29367517 single base substitution G A intron_variant BRCA-EU 22 29367914 29367914 single base substitution T C intron_variant BRCA-EU 22 29368465 29368465 single base substitution T G intron_variant BRCA-EU 22 29369603 29369603 single base substitution G C intron_variant BRCA-EU 22 29370739 29370739 single base substitution T C intron_variant BRCA-EU 22 29371181 29371181 single base substitution C T intron_variant BRCA-EU 22 29372164 29372164 single base substitution A C intron_variant BRCA-EU 22 29373417 29373417 deletion of <=200bp A - intron_variant BRCA-EU 22 29373610 29373610 single base substitution C G intron_variant BRCA-EU 22 29378611 29378611 single base substitution C G intron_variant BRCA-EU 22 29378611 29378611 single base substitution C G upstream_gene_variant BRCA-EU 22 29379469 29379469 single base substitution G A intron_variant BRCA-EU 22 29379469 29379469 single base substitution G A upstream_gene_variant BRCA-EU 22 29380624 29380624 single base substitution A C intron_variant BRCA-EU 22 29380624 29380624 single base substitution A C upstream_gene_variant BRCA-EU 22 29380692 29380692 single base substitution G A intron_variant BRCA-EU 22 29380692 29380692 single base substitution G A upstream_gene_variant BRCA-EU 22 29382071 29382071 single base substitution A T intron_variant BRCA-EU 22 29382071 29382071 single base substitution A T upstream_gene_variant BRCA-EU 22 29386468 29386468 single base substitution T A intron_variant BRCA-EU 22 29386606 29386606 single base substitution G A intron_variant BRCA-EU 22 29387510 29387510 single base substitution G T intron_variant BRCA-EU 22 29387979 29387979 single base substitution A T intron_variant BRCA-EU 22 29389763 29389763 single base substitution C T intron_variant BRCA-EU 22 29390115 29390115 single base substitution A G intron_variant BRCA-EU 22 29391597 29391597 single base substitution T A intron_variant BRCA-EU 22 29391690 29391690 single base substitution G T intron_variant BRCA-EU 22 29392989 29392989 single base substitution G A intron_variant BRCA-EU 22 29393208 29393208 single base substitution G A intron_variant BRCA-EU 22 29393654 29393654 single base substitution C G intron_variant BRCA-EU 22 29395241 29395241 single base substitution G T intron_variant BRCA-EU 22 29395762 29395762 single base substitution C G intron_variant BRCA-EU 22 29396327 29396327 single base substitution C T intron_variant BRCA-EU 22 29397686 29397686 single base substitution C A intron_variant BRCA-EU 22 29398087 29398087 single base substitution A C intron_variant BRCA-EU 22 29398415 29398415 single base substitution G T intron_variant BRCA-EU 22 29400870 29400870 single base substitution C G intron_variant BRCA-EU 22 29403222 29403222 single base substitution A G intron_variant BRCA-EU 22 29403629 29403629 single base substitution C G intron_variant BRCA-EU 22 29404849 29404849 single base substitution A T intron_variant BRCA-EU 22 29405559 29405563 deletion of <=200bp CTGTG - intron_variant BRCA-EU 22 29405741 29405741 single base substitution T C intron_variant BRCA-EU 22 29406949 29406949 single base substitution G A intron_variant BRCA-EU 22 29409085 29409085 single base substitution G C intron_variant BRCA-EU 22 29409471 29409471 single base substitution A T intron_variant BRCA-EU 22 29409471 29409497 deletion of <=200bp ACCTTGCCCTTTTGTCTTTGATTTTAT - intron_variant BRCA-EU 22 29410487 29410487 single base substitution G A intron_variant BRCA-EU 22 29411656 29411656 single base substitution T A intron_variant BRCA-EU 22 29413470 29413470 single base substitution T A intron_variant BRCA-EU 22 29414149 29414149 single base substitution G C intron_variant BRCA-EU 22 29416581 29416581 single base substitution C T intron_variant BRCA-EU 22 29417549 29417549 single base substitution C G intron_variant BRCA-EU 22 29417592 29417592 single base substitution C A intron_variant BRCA-EU 22 29417623 29417623 single base substitution G A intron_variant BRCA-EU 22 29417853 29417853 single base substitution G A intron_variant BRCA-EU 22 29419092 29419092 single base substitution A G intron_variant BRCA-EU 22 29420224 29420224 single base substitution C T intron_variant BRCA-EU 22 29422537 29422537 single base substitution A C intron_variant BRCA-EU 22 29422967 29422967 single base substitution G T intron_variant BRCA-EU 22 29423037 29423037 single base substitution G A intron_variant BRCA-EU 22 29423392 29423392 single base substitution A G intron_variant BRCA-EU 22 29423684 29423684 single base substitution C G intron_variant BRCA-EU 22 29424716 29424716 single base substitution G C intron_variant BRCA-EU 22 29424969 29424969 single base substitution C T intron_variant BRCA-EU 22 29425027 29425027 single base substitution C G intron_variant BRCA-EU 22 29426091 29426091 deletion of <=200bp T - intron_variant BRCA-EU 22 29426850 29426850 single base substitution T A intron_variant BRCA-EU 22 29428789 29428789 single base substitution C G intron_variant BRCA-EU 22 29430860 29430860 single base substitution G A intron_variant BRCA-EU 22 29431205 29431205 single base substitution C T intron_variant BRCA-EU 22 29435037 29435037 single base substitution C T intron_variant BRCA-EU 22 29435573 29435573 single base substitution C T intron_variant BRCA-EU 22 29435951 29435951 single base substitution G A intron_variant BRCA-EU 22 29435959 29435959 single base substitution G A intron_variant BRCA-EU 22 29436261 29436261 single base substitution A G intron_variant BRCA-EU 22 29436510 29436510 single base substitution G A intron_variant BRCA-EU 22 29436891 29436891 single base substitution T C intron_variant BRCA-EU 22 29437186 29437186 single base substitution A C intron_variant BRCA-EU 22 29440286 29440286 single base substitution A T intron_variant BRCA-EU 22 29440784 29440784 single base substitution T C missense_variant F117S 350T>C BRCA-EU 22 29440784 29440784 single base substitution T C missense_variant F217S 650T>C BRCA-EU 22 29442223 29442223 single base substitution A T intron_variant BRCA-EU 22 29442644 29442644 single base substitution G T intron_variant BRCA-EU 22 29443768 29443768 single base substitution G C intron_variant BRCA-EU 22 29443864 29443864 single base substitution G T intron_variant BRCA-EU 22 29444769 29444769 single base substitution G C intron_variant BRCA-EU 22 29445639 29445639 single base substitution C T synonymous_variant L390L 1170C>T BRCA-EU 22 29445639 29445639 single base substitution C T synonymous_variant L490L 1470C>T BRCA-EU 22 29445939 29445939 single base substitution C T synonymous_variant L490L 1470C>T BRCA-EU 22 29445939 29445939 single base substitution C T synonymous_variant L590L 1770C>T BRCA-EU 22 29448412 29448412 single base substitution G A intron_variant BRCA-EU 22 29448819 29448819 single base substitution T A intron_variant BRCA-EU 22 29449912 29449912 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 22 29449912 29449912 deletion of <=200bp T - downstream_gene_variant BRCA-EU 22 29450665 29450665 single base substitution G T 3_prime_UTR_variant BRCA-EU 22 29450665 29450665 single base substitution G T downstream_gene_variant BRCA-EU 22 29451406 29451406 single base substitution C T 3_prime_UTR_variant BRCA-EU 22 29451406 29451406 single base substitution C T downstream_gene_variant BRCA-EU 22 29451579 29451579 single base substitution C T 3_prime_UTR_variant BRCA-EU 22 29451579 29451579 single base substitution C T downstream_gene_variant BRCA-EU 22 29451896 29451896 single base substitution C G 3_prime_UTR_variant BRCA-EU 22 29451896 29451896 single base substitution C G downstream_gene_variant BRCA-EU 22 29454701 29454701 single base substitution G C downstream_gene_variant BRCA-EU 22 29455255 29455255 single base substitution C G downstream_gene_variant BRCA-EU 22 29455603 29455603 single base substitution G A downstream_gene_variant BRCA-EU 22 29455832 29455832 single base substitution A G downstream_gene_variant BRCA-EU 22 29456301 29456301 single base substitution G A downstream_gene_variant BRCA-EU 22 29456715 29456715 single base substitution G A downstream_gene_variant BRCA-EU 22 29456799 29456799 single base substitution G T downstream_gene_variant BRCA-EU 22 29456844 29456844 single base substitution G T downstream_gene_variant BRCA-EU 22 29457014 29457014 single base substitution G A downstream_gene_variant BRCA-EU 22 29457268 29457268 deletion of <=200bp G - downstream_gene_variant BRCA-EU 22 29458340 29458340 single base substitution C G downstream_gene_variant BRCA-FR 22 29276933 29276933 single base substitution C G upstream_gene_variant BRCA-FR 22 29277931 29277931 single base substitution A G upstream_gene_variant BRCA-FR 22 29323537 29323537 single base substitution C A intron_variant BRCA-FR 22 29334428 29334428 single base substitution G A intron_variant BRCA-FR 22 29345940 29345940 single base substitution C T intron_variant BRCA-FR 22 29378611 29378611 single base substitution C G intron_variant BRCA-FR 22 29378611 29378611 single base substitution C G upstream_gene_variant BRCA-FR 22 29395762 29395762 single base substitution C G intron_variant BRCA-FR 22 29396327 29396327 single base substitution C T intron_variant BRCA-FR 22 29421610 29421610 single base substitution G A intron_variant BRCA-FR 22 29431205 29431205 single base substitution C T intron_variant BRCA-FR 22 29445939 29445939 single base substitution C T synonymous_variant L490L 1470C>T BRCA-FR 22 29445939 29445939 single base substitution C T synonymous_variant L590L 1770C>T BRCA-FR 22 29451579 29451579 single base substitution C T 3_prime_UTR_variant BRCA-FR 22 29451579 29451579 single base substitution C T downstream_gene_variant BRCA-FR 22 29454133 29454133 single base substitution G T downstream_gene_variant BRCA-KR 22 29440700 29440700 single base substitution G A intron_variant BRCA-UK 22 29294476 29294476 single base substitution G C intron_variant BRCA-UK 22 29302628 29302647 deletion of <=200bp TTGCTACAAAATTGTGACTC - intron_variant BRCA-UK 22 29318778 29318778 single base substitution G A intron_variant BRCA-UK 22 29326287 29326287 single base substitution A G intron_variant BRCA-UK 22 29335588 29335588 single base substitution C G intron_variant BRCA-UK 22 29349813 29349813 single base substitution G A intron_variant BRCA-UK 22 29353016 29353016 single base substitution A G intron_variant BRCA-UK 22 29372164 29372164 single base substitution A C intron_variant BRCA-UK 22 29382317 29382317 single base substitution T A intron_variant BRCA-UK 22 29382317 29382317 single base substitution T A upstream_gene_variant BRCA-UK 22 29382478 29382478 single base substitution G C intron_variant BRCA-UK 22 29382478 29382478 single base substitution G C upstream_gene_variant BRCA-UK 22 29416581 29416581 single base substitution C T intron_variant BRCA-UK 22 29429501 29429501 single base substitution C G intron_variant BRCA-US 22 29414314 29414314 single base substitution T C intron_variant BRCA-US 22 29439324 29439324 single base substitution T G missense_variant V180G 539T>G BRCA-US 22 29439324 29439324 single base substitution T G missense_variant V80G 239T>G BRCA-US 22 29442769 29442769 single base substitution G C missense_variant K170N 510G>C BRCA-US 22 29442769 29442769 single base substitution G C missense_variant K270N 810G>C BRCA-US 22 29442853 29442853 single base substitution G C missense_variant E198D 594G>C BRCA-US 22 29442853 29442853 single base substitution G C missense_variant E298D 894G>C BRCA-US 22 29445235 29445235 single base substitution C T missense_variant R256C 766C>T BRCA-US 22 29445235 29445235 single base substitution C T missense_variant R356C 1066C>T BRCA-US 22 29445639 29445639 single base substitution C G synonymous_variant L390L 1170C>G BRCA-US 22 29445639 29445639 single base substitution C G synonymous_variant L490L 1470C>G BRCA-US 22 29445672 29445672 single base substitution G A synonymous_variant P401P 1203G>A BRCA-US 22 29445672 29445672 single base substitution G A synonymous_variant P501P 1503G>A BRCA-US 22 29446501 29446501 single base substitution C T missense_variant P678S 2032C>T BRCA-US 22 29446501 29446501 single base substitution C T missense_variant P778S 2332C>T BRCA-US 22 29455033 29455033 single base substitution A G downstream_gene_variant BTCA-JP 22 29279885 29279885 single base substitution T A missense_variant L44Q 131T>A BTCA-JP 22 29279885 29279885 single base substitution T A upstream_gene_variant BTCA-JP 22 29279991 29279991 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 22 29279991 29279991 single base substitution C T synonymous_variant T79T 237C>T BTCA-JP 22 29445509 29445509 single base substitution G A missense_variant R347H 1040G>A BTCA-JP 22 29445509 29445509 single base substitution G A missense_variant R447H 1340G>A BTCA-JP 22 29446975 29446975 single base substitution T C intron_variant BTCA-JP 22 29449693 29449693 deletion of <=200bp T - 3_prime_UTR_variant BTCA-JP 22 29449693 29449693 deletion of <=200bp T - downstream_gene_variant CESC-US 22 29446272 29446272 single base substitution G A stop_gained W601* 1803G>A CESC-US 22 29446272 29446272 single base substitution G A stop_gained W701* 2103G>A CESC-US 22 29454963 29454963 single base substitution G T downstream_gene_variant CESC-US 22 29456463 29456463 single base substitution G A downstream_gene_variant CESC-US 22 29456577 29456577 single base substitution C T downstream_gene_variant CLLE-ES 22 29278117 29278117 single base substitution T C upstream_gene_variant CLLE-ES 22 29315729 29315729 single base substitution A G intron_variant CLLE-ES 22 29321934 29321934 single base substitution C T intron_variant CLLE-ES 22 29339260 29339260 single base substitution G T intron_variant CLLE-ES 22 29342133 29342133 single base substitution C T intron_variant CLLE-ES 22 29349622 29349622 single base substitution G A intron_variant CLLE-ES 22 29351042 29351042 single base substitution T G intron_variant CLLE-ES 22 29381797 29381797 single base substitution A G intron_variant CLLE-ES 22 29381797 29381797 single base substitution A G upstream_gene_variant CLLE-ES 22 29395390 29395390 single base substitution A G intron_variant CLLE-ES 22 29395911 29395911 single base substitution A G intron_variant CLLE-ES 22 29402036 29402036 single base substitution G T intron_variant CLLE-ES 22 29402415 29402415 single base substitution G T intron_variant CLLE-ES 22 29407011 29407011 single base substitution G A intron_variant CLLE-ES 22 29426667 29426667 single base substitution G T intron_variant COAD-US 22 29383171 29383171 single base substitution C T synonymous_variant C136C 408C>T COAD-US 22 29383171 29383171 single base substitution C T synonymous_variant C36C 108C>T COAD-US 22 29439321 29439321 single base substitution C T missense_variant P179L 536C>T COAD-US 22 29439321 29439321 single base substitution C T missense_variant P79L 236C>T COAD-US 22 29439348 29439348 single base substitution C T missense_variant A188V 563C>T COAD-US 22 29439348 29439348 single base substitution C T missense_variant A88V 263C>T COAD-US 22 29439408 29439408 single base substitution G A missense_variant R108H 323G>A COAD-US 22 29439408 29439408 single base substitution G A missense_variant R208H 623G>A COAD-US 22 29440867 29440867 single base substitution C T stop_gained R145* 433C>T COAD-US 22 29440867 29440867 single base substitution C T stop_gained R245* 733C>T COAD-US 22 29442780 29442780 single base substitution G A missense_variant R174H 521G>A COAD-US 22 29442780 29442780 single base substitution G A missense_variant R274H 821G>A COAD-US 22 29442797 29442797 deletion of <=200bp G - frameshift_variant G180 COAD-US 22 29442797 29442797 deletion of <=200bp G - frameshift_variant G280 COAD-US 22 29444421 29444421 single base substitution C T synonymous_variant C219C 657C>T COAD-US 22 29444421 29444421 single base substitution C T synonymous_variant C319C 957C>T COAD-US 22 29444445 29444445 single base substitution C A missense_variant H227Q 681C>A COAD-US 22 29444445 29444445 single base substitution C A missense_variant H327Q 981C>A COAD-US 22 29445208 29445209 deletion of <=200bp GT - frameshift_variant V247 COAD-US 22 29445208 29445209 deletion of <=200bp GT - frameshift_variant V347 COAD-US 22 29445468 29445468 single base substitution C T synonymous_variant C333C 999C>T COAD-US 22 29445468 29445468 single base substitution C T synonymous_variant C433C 1299C>T COAD-US 22 29445643 29445643 deletion of <=200bp C - frameshift_variant P392 COAD-US 22 29445643 29445643 deletion of <=200bp C - frameshift_variant P492 COAD-US 22 29446611 29446611 single base substitution A C synonymous_variant P714P 2142A>C COAD-US 22 29446611 29446611 single base substitution A C synonymous_variant P814P 2442A>C COAD-US 22 29446744 29446744 single base substitution C T stop_gained R759* 2275C>T COAD-US 22 29446744 29446744 single base substitution C T stop_gained R859* 2575C>T COAD-US 22 29456549 29456549 single base substitution A T downstream_gene_variant COAD-US 22 29456733 29456733 single base substitution T C downstream_gene_variant COCA-CN 22 29439340 29439340 single base substitution T C synonymous_variant G185G 555T>C COCA-CN 22 29439340 29439340 single base substitution T C synonymous_variant G85G 255T>C COCA-CN 22 29439407 29439407 single base substitution C T missense_variant R108C 322C>T COCA-CN 22 29439407 29439407 single base substitution C T missense_variant R208C 622C>T COCA-CN 22 29454930 29454930 single base substitution G T downstream_gene_variant COCA-CN 22 29456588 29456588 single base substitution G A downstream_gene_variant COCA-CN 22 29457852 29457852 single base substitution T C downstream_gene_variant EOPC-DE 22 29359905 29359905 single base substitution G A intron_variant ESAD-UK 22 29275060 29275060 single base substitution G A upstream_gene_variant ESAD-UK 22 29279512 29279512 single base substitution G A upstream_gene_variant ESAD-UK 22 29280546 29280546 single base substitution C T intron_variant ESAD-UK 22 29283209 29283209 insertion of <=200bp - AG intron_variant ESAD-UK 22 29283727 29283727 single base substitution G A intron_variant ESAD-UK 22 29284102 29284102 single base substitution G A intron_variant ESAD-UK 22 29284570 29284570 single base substitution C G intron_variant ESAD-UK 22 29284843 29284843 single base substitution C T intron_variant ESAD-UK 22 29284876 29284876 single base substitution C T intron_variant ESAD-UK 22 29284935 29284935 deletion of <=200bp A - intron_variant ESAD-UK 22 29286399 29286399 single base substitution A G intron_variant ESAD-UK 22 29288638 29288638 single base substitution C G intron_variant ESAD-UK 22 29293910 29293910 single base substitution G A intron_variant ESAD-UK 22 29294417 29294417 single base substitution C G intron_variant ESAD-UK 22 29295447 29295447 single base substitution C T intron_variant ESAD-UK 22 29303010 29303010 single base substitution G A intron_variant ESAD-UK 22 29303218 29303218 single base substitution C T intron_variant ESAD-UK 22 29303372 29303372 single base substitution C G intron_variant ESAD-UK 22 29304569 29304569 single base substitution G A intron_variant ESAD-UK 22 29305460 29305460 single base substitution C T intron_variant ESAD-UK 22 29309747 29309747 single base substitution A G intron_variant ESAD-UK 22 29309747 29309747 single base substitution A G upstream_gene_variant ESAD-UK 22 29312371 29312371 single base substitution A G intron_variant ESAD-UK 22 29312371 29312371 single base substitution A G upstream_gene_variant ESAD-UK 22 29315327 29315327 deletion of <=200bp T - intron_variant ESAD-UK 22 29317203 29317203 deletion of <=200bp C - intron_variant ESAD-UK 22 29318295 29318295 single base substitution G A intron_variant ESAD-UK 22 29319626 29319626 single base substitution C G intron_variant ESAD-UK 22 29319906 29319906 single base substitution G C intron_variant ESAD-UK 22 29320743 29320743 insertion of <=200bp - ATC intron_variant ESAD-UK 22 29320752 29320752 single base substitution A T intron_variant ESAD-UK 22 29321551 29321551 single base substitution C T intron_variant ESAD-UK 22 29335835 29335835 single base substitution C A intron_variant ESAD-UK 22 29336642 29336642 single base substitution C T intron_variant ESAD-UK 22 29342543 29342543 single base substitution G A intron_variant ESAD-UK 22 29342574 29342574 single base substitution G A intron_variant ESAD-UK 22 29344159 29344159 single base substitution A T intron_variant ESAD-UK 22 29344167 29344167 single base substitution A T intron_variant ESAD-UK 22 29344636 29344636 single base substitution T C intron_variant ESAD-UK 22 29348886 29348886 single base substitution A C intron_variant ESAD-UK 22 29352099 29352099 single base substitution C T intron_variant ESAD-UK 22 29353799 29353799 single base substitution A G intron_variant ESAD-UK 22 29355303 29355303 single base substitution C T intron_variant ESAD-UK 22 29357371 29357371 single base substitution G T intron_variant ESAD-UK 22 29359348 29359348 single base substitution C T intron_variant ESAD-UK 22 29361762 29361762 single base substitution A G intron_variant ESAD-UK 22 29364984 29364984 single base substitution T G intron_variant ESAD-UK 22 29366457 29366457 single base substitution C A intron_variant ESAD-UK 22 29366524 29366524 single base substitution T A intron_variant ESAD-UK 22 29367366 29367366 single base substitution G C intron_variant ESAD-UK 22 29371450 29371450 single base substitution C T intron_variant ESAD-UK 22 29373624 29373624 single base substitution G A intron_variant ESAD-UK 22 29380121 29380121 single base substitution A T intron_variant ESAD-UK 22 29380121 29380121 single base substitution A T upstream_gene_variant ESAD-UK 22 29380938 29380938 single base substitution C T intron_variant ESAD-UK 22 29380938 29380938 single base substitution C T upstream_gene_variant ESAD-UK 22 29381421 29381421 single base substitution C T intron_variant ESAD-UK 22 29381421 29381421 single base substitution C T upstream_gene_variant ESAD-UK 22 29383571 29383571 single base substitution C A intron_variant ESAD-UK 22 29384188 29384188 single base substitution G A intron_variant ESAD-UK 22 29385137 29385137 single base substitution C T intron_variant ESAD-UK 22 29385630 29385630 single base substitution G A intron_variant ESAD-UK 22 29390746 29390746 single base substitution A T intron_variant ESAD-UK 22 29396553 29396553 single base substitution A T intron_variant ESAD-UK 22 29398042 29398042 single base substitution T C intron_variant ESAD-UK 22 29398094 29398094 insertion of <=200bp - TG intron_variant ESAD-UK 22 29403246 29403246 single base substitution G A intron_variant ESAD-UK 22 29408404 29408404 single base substitution G T intron_variant ESAD-UK 22 29409048 29409048 single base substitution C T intron_variant ESAD-UK 22 29420526 29420526 single base substitution C G intron_variant ESAD-UK 22 29422233 29422233 single base substitution G A intron_variant ESAD-UK 22 29425452 29425452 single base substitution G C intron_variant ESAD-UK 22 29429986 29429986 single base substitution T C intron_variant ESAD-UK 22 29430223 29430223 single base substitution G T intron_variant ESAD-UK 22 29434951 29434951 single base substitution T G intron_variant ESAD-UK 22 29436846 29436846 single base substitution A T intron_variant ESAD-UK 22 29436915 29436915 single base substitution C A intron_variant ESAD-UK 22 29439446 29439446 single base substitution C T intron_variant ESAD-UK 22 29440281 29440281 single base substitution A G intron_variant ESAD-UK 22 29440666 29440666 single base substitution C T intron_variant ESAD-UK 22 29448542 29448542 single base substitution G A intron_variant ESAD-UK 22 29448802 29448802 single base substitution A C intron_variant ESAD-UK 22 29448810 29448810 single base substitution A T intron_variant ESAD-UK 22 29452545 29452545 single base substitution G A 3_prime_UTR_variant ESAD-UK 22 29452545 29452545 single base substitution G A downstream_gene_variant ESAD-UK 22 29453938 29453938 single base substitution C T downstream_gene_variant ESAD-UK 22 29454085 29454085 single base substitution G A downstream_gene_variant ESAD-UK 22 29454357 29454357 single base substitution C T downstream_gene_variant ESAD-UK 22 29455456 29455456 single base substitution A G downstream_gene_variant ESCA-CN 22 29456627 29456627 single base substitution T A downstream_gene_variant ESCA-CN 22 29456648 29456648 single base substitution C A downstream_gene_variant GBM-US 22 29440867 29440867 single base substitution C T stop_gained R145* 433C>T GBM-US 22 29440867 29440867 single base substitution C T stop_gained R245* 733C>T KIRC-US 22 29456415 29456415 single base substitution T C downstream_gene_variant KIRP-US 22 29445350 29445350 single base substitution T C missense_variant V294A 881T>C KIRP-US 22 29445350 29445350 single base substitution T C missense_variant V394A 1181T>C KIRP-US 22 29445939 29445939 single base substitution C G synonymous_variant L490L 1470C>G KIRP-US 22 29445939 29445939 single base substitution C G synonymous_variant L590L 1770C>G LAML-KR 22 29336502 29336502 single base substitution C T intron_variant LAML-KR 22 29397491 29397491 single base substitution G A intron_variant LAML-KR 22 29405913 29405913 single base substitution G T intron_variant LAML-KR 22 29442892 29442892 single base substitution G A intron_variant LAML-KR 22 29446320 29446320 single base substitution G A synonymous_variant Q617Q 1851G>A LAML-KR 22 29446320 29446320 single base substitution G A synonymous_variant Q717Q 2151G>A LAML-KR 22 29446611 29446611 single base substitution A C synonymous_variant P714P 2142A>C LAML-KR 22 29446611 29446611 single base substitution A C synonymous_variant P814P 2442A>C LAML-KR 22 29446729 29446729 single base substitution T C missense_variant S754P 2260T>C LAML-KR 22 29446729 29446729 single base substitution T C missense_variant S854P 2560T>C LICA-CN 22 29446218 29446218 single base substitution A T synonymous_variant S583S 1749A>T LICA-CN 22 29446218 29446218 single base substitution A T synonymous_variant S683S 2049A>T LICA-FR 22 29302974 29302974 deletion of <=200bp T - intron_variant LICA-FR 22 29303138 29303138 deletion of <=200bp T - intron_variant LICA-FR 22 29308651 29308653 deletion of <=200bp TTT - intron_variant LICA-FR 22 29308651 29308653 deletion of <=200bp TTT - upstream_gene_variant LICA-FR 22 29313442 29313442 single base substitution C G 5_prime_UTR_variant LICA-FR 22 29313442 29313442 single base substitution C G intron_variant LICA-FR 22 29319169 29319169 single base substitution G T intron_variant LICA-FR 22 29363809 29363809 single base substitution T A intron_variant LICA-FR 22 29386723 29386723 single base substitution A C intron_variant LICA-FR 22 29391812 29391812 single base substitution A G intron_variant LICA-FR 22 29402202 29402202 deletion of <=200bp T - intron_variant LICA-FR 22 29403201 29403201 single base substitution G C intron_variant LICA-FR 22 29410680 29410680 single base substitution C T intron_variant LICA-FR 22 29411137 29411137 single base substitution G T intron_variant LICA-FR 22 29416778 29416778 single base substitution T G intron_variant LICA-FR 22 29422345 29422345 single base substitution A G intron_variant LICA-FR 22 29430988 29430990 deletion of <=200bp TTT - intron_variant LICA-FR 22 29432712 29432712 single base substitution A G intron_variant LICA-FR 22 29439420 29439420 single base substitution T G splice_donor_variant LICA-FR 22 29444461 29444461 single base substitution T A missense_variant C233S 697T>A LICA-FR 22 29444461 29444461 single base substitution T A missense_variant C333S 997T>A LICA-FR 22 29445371 29445371 insertion of <=200bp - TCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGTCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAG disruptive_inframe_insertion R301LSLPSSWDYRHASPHLANFYIFSRDRVSPCWPG LICA-FR 22 29445371 29445371 insertion of <=200bp - TCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGTCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAG disruptive_inframe_insertion R401LSLPSSWDYRHASPHLANFYIFSRDRVSPCWPG LICA-FR 22 29445379 29445379 single base substitution G T stop_gained E304* 910G>T LICA-FR 22 29445379 29445379 single base substitution G T stop_gained E404* 1210G>T LICA-FR 22 29446275 29446275 insertion of <=200bp - G frameshift_variant K602K? LICA-FR 22 29446275 29446275 insertion of <=200bp - G frameshift_variant K702K? LICA-FR 22 29446410 29446410 single base substitution T G synonymous_variant G647G 1941T>G LICA-FR 22 29446410 29446410 single base substitution T G synonymous_variant G747G 2241T>G LICA-FR 22 29446536 29446536 single base substitution C T synonymous_variant R689R 2067C>T LICA-FR 22 29446536 29446536 single base substitution C T synonymous_variant R789R 2367C>T LICA-FR 22 29446810 29446810 single base substitution T C missense_variant C781R 2341T>C LICA-FR 22 29446810 29446810 single base substitution T C missense_variant C881R 2641T>C LICA-FR 22 29446848 29446848 single base substitution T C synonymous_variant P793P 2379T>C LICA-FR 22 29446848 29446848 single base substitution T C synonymous_variant P893P 2679T>C LICA-FR 22 29446850 29446850 single base substitution C G missense_variant P794R 2381C>G LICA-FR 22 29446850 29446850 single base substitution C G missense_variant P894R 2681C>G LICA-FR 22 29453685 29453685 single base substitution G T downstream_gene_variant LICA-FR 22 29453949 29453949 insertion of <=200bp - T downstream_gene_variant LIHC-US 22 29438502 29438502 single base substitution G C missense_variant R149P 446G>C LIHC-US 22 29438502 29438502 single base substitution G C missense_variant R49P 146G>C LIHC-US 22 29440871 29440871 single base substitution G A missense_variant R146H 437G>A LIHC-US 22 29440871 29440871 single base substitution G A missense_variant R246H 737G>A LIHC-US 22 29445870 29445871 deletion of <=200bp TG - frameshift_variant SV467 LIHC-US 22 29445870 29445871 deletion of <=200bp TG - frameshift_variant SV567 LINC-JP 22 29280610 29280610 single base substitution G T intron_variant LINC-JP 22 29288057 29288057 single base substitution A G intron_variant LINC-JP 22 29290342 29290342 single base substitution G T intron_variant LINC-JP 22 29301229 29301229 single base substitution A T intron_variant LINC-JP 22 29308709 29308709 single base substitution A G intron_variant LINC-JP 22 29308709 29308709 single base substitution A G upstream_gene_variant LINC-JP 22 29312203 29312203 single base substitution C T intron_variant LINC-JP 22 29312203 29312203 single base substitution C T upstream_gene_variant LINC-JP 22 29324204 29324204 single base substitution G C intron_variant LINC-JP 22 29329791 29329791 single base substitution T C intron_variant LINC-JP 22 29341229 29341229 single base substitution A G intron_variant LINC-JP 22 29351997 29351997 single base substitution C T intron_variant LINC-JP 22 29354043 29354043 single base substitution G A intron_variant LINC-JP 22 29354047 29354047 single base substitution G T intron_variant LINC-JP 22 29357038 29357038 single base substitution A G intron_variant LINC-JP 22 29368970 29368970 single base substitution A G intron_variant LINC-JP 22 29383036 29383036 single base substitution G T intron_variant LINC-JP 22 29383036 29383036 single base substitution G T upstream_gene_variant LINC-JP 22 29385408 29385408 single base substitution T G intron_variant LINC-JP 22 29409810 29409810 single base substitution G A intron_variant LINC-JP 22 29412764 29412764 single base substitution A G intron_variant LINC-JP 22 29423858 29423858 single base substitution C T intron_variant LINC-JP 22 29434519 29434519 single base substitution A G intron_variant LINC-JP 22 29445123 29445123 single base substitution C G intron_variant LINC-JP 22 29445328 29445328 single base substitution A G missense_variant M287V 859A>G LINC-JP 22 29445328 29445328 single base substitution A G missense_variant M387V 1159A>G LINC-JP 22 29454810 29454810 single base substitution G C downstream_gene_variant LIRI-JP 22 29283023 29283023 single base substitution C T intron_variant LIRI-JP 22 29285502 29285502 single base substitution A G intron_variant LIRI-JP 22 29285696 29285696 single base substitution C G intron_variant LIRI-JP 22 29285714 29285714 single base substitution A G intron_variant LIRI-JP 22 29289623 29289623 single base substitution C G intron_variant LIRI-JP 22 29289952 29289952 single base substitution G A intron_variant LIRI-JP 22 29291270 29291270 single base substitution G A intron_variant LIRI-JP 22 29291747 29291747 single base substitution T C intron_variant LIRI-JP 22 29299830 29299830 single base substitution A T intron_variant LIRI-JP 22 29301259 29301259 single base substitution A G intron_variant LIRI-JP 22 29301363 29301363 single base substitution G T intron_variant LIRI-JP 22 29303392 29303392 single base substitution T G intron_variant LIRI-JP 22 29303794 29303794 single base substitution T A intron_variant LIRI-JP 22 29304356 29304356 single base substitution A C intron_variant LIRI-JP 22 29308026 29308026 single base substitution C T intron_variant LIRI-JP 22 29313856 29313856 single base substitution A G intron_variant LIRI-JP 22 29314222 29314222 single base substitution A T intron_variant LIRI-JP 22 29314344 29314344 single base substitution A G intron_variant LIRI-JP 22 29314774 29314774 single base substitution A T intron_variant LIRI-JP 22 29317394 29317394 insertion of <=200bp - T intron_variant LIRI-JP 22 29319956 29319956 single base substitution C G intron_variant LIRI-JP 22 29321435 29321435 single base substitution G A intron_variant LIRI-JP 22 29321971 29321971 single base substitution A T intron_variant LIRI-JP 22 29322312 29322312 single base substitution A G intron_variant LIRI-JP 22 29324531 29324531 single base substitution G T intron_variant LIRI-JP 22 29324632 29324632 single base substitution C T intron_variant LIRI-JP 22 29324643 29324643 single base substitution G A intron_variant LIRI-JP 22 29329209 29329209 single base substitution T C intron_variant LIRI-JP 22 29330518 29330518 single base substitution C T intron_variant LIRI-JP 22 29331811 29331811 single base substitution A G intron_variant LIRI-JP 22 29335210 29335210 single base substitution A G intron_variant LIRI-JP 22 29337266 29337266 single base substitution T G intron_variant LIRI-JP 22 29337318 29337322 deletion of <=200bp TAATT - intron_variant LIRI-JP 22 29337759 29337759 single base substitution C T intron_variant LIRI-JP 22 29339449 29339449 single base substitution C T intron_variant LIRI-JP 22 29340064 29340064 single base substitution A G intron_variant LIRI-JP 22 29344805 29344805 single base substitution C A intron_variant LIRI-JP 22 29348903 29348904 deletion of <=200bp AA - intron_variant LIRI-JP 22 29350075 29350075 single base substitution G T intron_variant LIRI-JP 22 29350501 29350501 single base substitution A G intron_variant LIRI-JP 22 29352518 29352518 single base substitution A G intron_variant LIRI-JP 22 29354663 29354663 single base substitution T C intron_variant LIRI-JP 22 29356236 29356236 single base substitution A G intron_variant LIRI-JP 22 29356563 29356563 single base substitution C A intron_variant LIRI-JP 22 29357341 29357341 single base substitution A G intron_variant LIRI-JP 22 29358133 29358133 single base substitution T A intron_variant LIRI-JP 22 29358360 29358360 single base substitution G A intron_variant LIRI-JP 22 29359513 29359513 single base substitution G T intron_variant LIRI-JP 22 29361742 29361742 deletion of <=200bp A - intron_variant LIRI-JP 22 29362973 29362973 single base substitution T C intron_variant LIRI-JP 22 29366632 29366632 single base substitution A G intron_variant LIRI-JP 22 29369290 29369290 single base substitution A G intron_variant LIRI-JP 22 29370547 29370547 single base substitution A G intron_variant LIRI-JP 22 29372272 29372272 single base substitution A T intron_variant LIRI-JP 22 29373531 29373531 single base substitution G A intron_variant LIRI-JP 22 29373532 29373532 single base substitution A T intron_variant LIRI-JP 22 29378574 29378574 single base substitution G A intron_variant LIRI-JP 22 29378574 29378574 single base substitution G A upstream_gene_variant LIRI-JP 22 29378627 29378627 single base substitution A G intron_variant LIRI-JP 22 29378627 29378627 single base substitution A G upstream_gene_variant LIRI-JP 22 29379578 29379578 single base substitution C A intron_variant LIRI-JP 22 29379578 29379578 single base substitution C A upstream_gene_variant LIRI-JP 22 29380224 29380224 single base substitution T G intron_variant LIRI-JP 22 29380224 29380224 single base substitution T G upstream_gene_variant LIRI-JP 22 29380468 29380468 single base substitution A G intron_variant LIRI-JP 22 29380468 29380468 single base substitution A G upstream_gene_variant LIRI-JP 22 29381504 29381504 single base substitution A G intron_variant LIRI-JP 22 29381504 29381504 single base substitution A G upstream_gene_variant LIRI-JP 22 29383279 29383279 single base substitution A G intron_variant LIRI-JP 22 29385660 29385660 single base substitution T C intron_variant LIRI-JP 22 29386538 29386538 single base substitution G T intron_variant LIRI-JP 22 29387725 29387725 single base substitution C T intron_variant LIRI-JP 22 29392242 29392242 single base substitution A G intron_variant LIRI-JP 22 29392569 29392569 single base substitution A C intron_variant LIRI-JP 22 29393596 29393596 single base substitution G A intron_variant LIRI-JP 22 29394020 29394020 single base substitution G T intron_variant LIRI-JP 22 29398694 29398694 single base substitution A G intron_variant LIRI-JP 22 29399928 29399928 deletion of <=200bp A - intron_variant LIRI-JP 22 29400046 29400046 single base substitution G C intron_variant LIRI-JP 22 29404444 29404444 single base substitution A G intron_variant LIRI-JP 22 29408670 29408670 single base substitution C T intron_variant LIRI-JP 22 29409907 29409908 deletion of <=200bp CT - intron_variant LIRI-JP 22 29411873 29411873 single base substitution A G intron_variant LIRI-JP 22 29412599 29412599 single base substitution T G intron_variant LIRI-JP 22 29412941 29412941 single base substitution C G intron_variant LIRI-JP 22 29416550 29416550 single base substitution C T intron_variant LIRI-JP 22 29416570 29416570 single base substitution C T intron_variant LIRI-JP 22 29417669 29417669 single base substitution T G intron_variant LIRI-JP 22 29418404 29418404 single base substitution A G intron_variant LIRI-JP 22 29418577 29418577 single base substitution A G intron_variant LIRI-JP 22 29418690 29418690 single base substitution A G intron_variant LIRI-JP 22 29418828 29418829 deletion of <=200bp TA - intron_variant LIRI-JP 22 29419258 29419258 single base substitution A G intron_variant LIRI-JP 22 29419501 29419501 single base substitution T C intron_variant LIRI-JP 22 29420671 29420671 single base substitution A G intron_variant LIRI-JP 22 29422918 29422919 deletion of <=200bp TT - intron_variant LIRI-JP 22 29423486 29423486 single base substitution C T intron_variant LIRI-JP 22 29423849 29423849 single base substitution C T intron_variant LIRI-JP 22 29426533 29426533 single base substitution A T intron_variant LIRI-JP 22 29427402 29427402 single base substitution T G intron_variant LIRI-JP 22 29428959 29428959 single base substitution G A intron_variant LIRI-JP 22 29433390 29433390 single base substitution C G intron_variant LIRI-JP 22 29434149 29434149 single base substitution G T intron_variant LIRI-JP 22 29434752 29434752 single base substitution C T intron_variant LIRI-JP 22 29435619 29435619 single base substitution C T intron_variant LIRI-JP 22 29438039 29438039 deletion of <=200bp T - intron_variant LIRI-JP 22 29439902 29439902 single base substitution G A intron_variant LIRI-JP 22 29440746 29440758 deletion of <=200bp CTGTGTCTGTGTT - intron_variant LIRI-JP 22 29441800 29441800 single base substitution A G intron_variant LIRI-JP 22 29442146 29442146 single base substitution A G intron_variant LIRI-JP 22 29442161 29442161 single base substitution A C intron_variant LIRI-JP 22 29442644 29442644 deletion of <=200bp G - intron_variant LIRI-JP 22 29442787 29442787 single base substitution G T missense_variant E176D 528G>T LIRI-JP 22 29442787 29442787 single base substitution G T missense_variant E276D 828G>T LIRI-JP 22 29443249 29443249 single base substitution A C intron_variant LIRI-JP 22 29444651 29444651 single base substitution C T intron_variant LIRI-JP 22 29446860 29446860 single base substitution G T synonymous_variant A797A 2391G>T LIRI-JP 22 29446860 29446860 single base substitution G T synonymous_variant A897A 2691G>T LIRI-JP 22 29447511 29447511 single base substitution G A intron_variant LIRI-JP 22 29448059 29448059 single base substitution T G intron_variant LIRI-JP 22 29448375 29448375 single base substitution A G intron_variant LIRI-JP 22 29450285 29450285 single base substitution G T 3_prime_UTR_variant LIRI-JP 22 29450285 29450285 single base substitution G T downstream_gene_variant LIRI-JP 22 29450477 29450477 single base substitution G A 3_prime_UTR_variant LIRI-JP 22 29450477 29450477 single base substitution G A downstream_gene_variant LIRI-JP 22 29455453 29455453 single base substitution G A downstream_gene_variant LUSC-KR 22 29286983 29286983 single base substitution G C intron_variant LUSC-KR 22 29299285 29299285 single base substitution G A intron_variant LUSC-KR 22 29301857 29301857 single base substitution C G intron_variant LUSC-KR 22 29311293 29311293 single base substitution C T intron_variant LUSC-KR 22 29311293 29311293 single base substitution C T upstream_gene_variant LUSC-KR 22 29316940 29316940 single base substitution G T intron_variant LUSC-KR 22 29332267 29332267 single base substitution C T intron_variant LUSC-KR 22 29336502 29336502 single base substitution C T intron_variant LUSC-KR 22 29340774 29340774 single base substitution T G intron_variant LUSC-KR 22 29345821 29345821 single base substitution C T intron_variant LUSC-KR 22 29358485 29358485 single base substitution C A intron_variant LUSC-KR 22 29361317 29361317 single base substitution G A intron_variant LUSC-KR 22 29367205 29367205 single base substitution G T intron_variant LUSC-KR 22 29368250 29368250 single base substitution C G intron_variant LUSC-KR 22 29383048 29383048 single base substitution C A 5_prime_UTR_variant LUSC-KR 22 29383048 29383048 single base substitution C A intron_variant LUSC-KR 22 29383502 29383502 single base substitution C T intron_variant LUSC-KR 22 29384807 29384807 single base substitution C T intron_variant LUSC-KR 22 29387024 29387024 single base substitution C T intron_variant LUSC-KR 22 29391654 29391654 single base substitution G A intron_variant LUSC-KR 22 29395734 29395734 single base substitution A C intron_variant LUSC-KR 22 29404364 29404364 single base substitution A T intron_variant LUSC-KR 22 29407819 29407819 single base substitution G A intron_variant LUSC-KR 22 29407826 29407826 single base substitution A G intron_variant LUSC-KR 22 29416774 29416774 single base substitution T G intron_variant LUSC-KR 22 29424850 29424850 single base substitution G A intron_variant LUSC-KR 22 29431680 29431680 single base substitution C G intron_variant LUSC-KR 22 29434935 29434935 single base substitution G T intron_variant LUSC-KR 22 29434953 29434953 single base substitution T G intron_variant LUSC-KR 22 29437212 29437212 single base substitution C T intron_variant LUSC-KR 22 29441646 29441646 single base substitution A G intron_variant LUSC-KR 22 29446292 29446292 single base substitution C T missense_variant P608L 1823C>T LUSC-KR 22 29446292 29446292 single base substitution C T missense_variant P708L 2123C>T LUSC-KR 22 29448568 29448568 single base substitution C G intron_variant LUSC-KR 22 29452386 29452386 single base substitution C G 3_prime_UTR_variant LUSC-KR 22 29452386 29452386 single base substitution C G downstream_gene_variant LUSC-KR 22 29453049 29453049 single base substitution T A 3_prime_UTR_variant LUSC-KR 22 29453049 29453049 single base substitution T A downstream_gene_variant LUSC-KR 22 29456733 29456733 single base substitution T C downstream_gene_variant LUSC-US 22 29442802 29442802 single base substitution C T synonymous_variant A181A 543C>T LUSC-US 22 29442802 29442802 single base substitution C T synonymous_variant A281A 843C>T LUSC-US 22 29445418 29445418 single base substitution C T missense_variant R317C 949C>T LUSC-US 22 29445418 29445418 single base substitution C T missense_variant R417C 1249C>T LUSC-US 22 29445639 29445639 single base substitution C T synonymous_variant L390L 1170C>T LUSC-US 22 29445639 29445639 single base substitution C T synonymous_variant L490L 1470C>T LUSC-US 22 29445798 29445820 deletion of <=200bp GGCCGACTGCCCAGGCAGCGACA - frameshift_variant LADCPGSDS443 LUSC-US 22 29445798 29445820 deletion of <=200bp GGCCGACTGCCCAGGCAGCGACA - frameshift_variant LADCPGSDS543 LUSC-US 22 29446217 29446217 single base substitution C T missense_variant S583L 1748C>T LUSC-US 22 29446217 29446217 single base substitution C T missense_variant S683L 2048C>T LUSC-US 22 29456416 29456416 single base substitution C A downstream_gene_variant MALY-DE 22 29283397 29283397 insertion of <=200bp - AG intron_variant MALY-DE 22 29283397 29283398 deletion of <=200bp AG - intron_variant MALY-DE 22 29283537 29283537 insertion of <=200bp - T intron_variant MALY-DE 22 29290109 29290109 single base substitution T C intron_variant MALY-DE 22 29294093 29294093 single base substitution C T intron_variant MALY-DE 22 29298049 29298049 single base substitution T G intron_variant MALY-DE 22 29298971 29298971 deletion of <=200bp T - intron_variant MALY-DE 22 29299212 29299212 single base substitution G A intron_variant MALY-DE 22 29300074 29300074 deletion of <=200bp A - intron_variant MALY-DE 22 29306066 29306066 single base substitution C T intron_variant MALY-DE 22 29307619 29307619 single base substitution C T intron_variant MALY-DE 22 29310767 29310767 single base substitution A T intron_variant MALY-DE 22 29310767 29310767 single base substitution A T upstream_gene_variant MALY-DE 22 29310788 29310788 single base substitution A T intron_variant MALY-DE 22 29310788 29310788 single base substitution A T upstream_gene_variant MALY-DE 22 29317305 29317305 single base substitution G A intron_variant MALY-DE 22 29333241 29333241 single base substitution A C intron_variant MALY-DE 22 29334244 29334244 insertion of <=200bp - T intron_variant MALY-DE 22 29344167 29344167 single base substitution A T intron_variant MALY-DE 22 29352901 29352901 single base substitution G T intron_variant MALY-DE 22 29355135 29355135 single base substitution C T intron_variant MALY-DE 22 29357443 29357443 single base substitution C T intron_variant MALY-DE 22 29358363 29358363 single base substitution G T intron_variant MALY-DE 22 29373417 29373417 deletion of <=200bp A - intron_variant MALY-DE 22 29375057 29375057 single base substitution T C intron_variant MALY-DE 22 29386201 29386201 single base substitution G A intron_variant MALY-DE 22 29386877 29386877 single base substitution C A intron_variant MALY-DE 22 29398963 29398963 deletion of <=200bp A - intron_variant MALY-DE 22 29398976 29398976 deletion of <=200bp A - intron_variant MALY-DE 22 29400944 29400944 single base substitution G A intron_variant MALY-DE 22 29404790 29404790 single base substitution G A intron_variant MALY-DE 22 29406582 29406582 single base substitution G C intron_variant MALY-DE 22 29409511 29409511 single base substitution G A intron_variant MALY-DE 22 29420888 29420888 single base substitution A G intron_variant MALY-DE 22 29421800 29421800 single base substitution G A intron_variant MALY-DE 22 29422817 29422817 single base substitution T C intron_variant MALY-DE 22 29427837 29427837 single base substitution G A intron_variant MALY-DE 22 29430226 29430226 single base substitution A G intron_variant MALY-DE 22 29430510 29430510 single base substitution A G intron_variant MALY-DE 22 29431563 29431563 single base substitution T A intron_variant MALY-DE 22 29434844 29434844 single base substitution C T intron_variant MALY-DE 22 29434955 29434955 single base substitution G T intron_variant MALY-DE 22 29434957 29434957 single base substitution G T intron_variant MALY-DE 22 29440281 29440281 single base substitution A G intron_variant MALY-DE 22 29453035 29453035 single base substitution A C 3_prime_UTR_variant MALY-DE 22 29453035 29453035 single base substitution A C downstream_gene_variant MELA-AU 22 29275219 29275219 single base substitution G A upstream_gene_variant MELA-AU 22 29275698 29275698 single base substitution C T upstream_gene_variant MELA-AU 22 29276271 29276271 single base substitution C T upstream_gene_variant MELA-AU 22 29276297 29276297 single base substitution C T upstream_gene_variant MELA-AU 22 29277007 29277007 single base substitution C T upstream_gene_variant MELA-AU 22 29277065 29277065 single base substitution G A upstream_gene_variant MELA-AU 22 29277343 29277343 single base substitution T C upstream_gene_variant MELA-AU 22 29277736 29277736 single base substitution C T upstream_gene_variant MELA-AU 22 29277772 29277772 single base substitution C T upstream_gene_variant MELA-AU 22 29277786 29277786 single base substitution C T upstream_gene_variant MELA-AU 22 29277906 29277906 single base substitution G A upstream_gene_variant MELA-AU 22 29278012 29278012 single base substitution C T upstream_gene_variant MELA-AU 22 29278072 29278072 single base substitution G A upstream_gene_variant MELA-AU 22 29278191 29278191 single base substitution C T upstream_gene_variant MELA-AU 22 29279230 29279230 single base substitution G A upstream_gene_variant MELA-AU 22 29279238 29279238 single base substitution G A upstream_gene_variant MELA-AU 22 29279299 29279299 single base substitution G A upstream_gene_variant MELA-AU 22 29279364 29279364 single base substitution G A upstream_gene_variant MELA-AU 22 29279380 29279380 single base substitution G A upstream_gene_variant MELA-AU 22 29280210 29280210 single base substitution G A intron_variant MELA-AU 22 29280281 29280281 single base substitution C T intron_variant MELA-AU 22 29281003 29281003 single base substitution G A intron_variant MELA-AU 22 29281351 29281351 single base substitution C T intron_variant MELA-AU 22 29282015 29282015 single base substitution C T intron_variant MELA-AU 22 29283895 29283895 single base substitution T G intron_variant MELA-AU 22 29284247 29284247 single base substitution C T intron_variant MELA-AU 22 29284816 29284816 single base substitution C T intron_variant MELA-AU 22 29284829 29284829 single base substitution G A intron_variant MELA-AU 22 29285504 29285504 single base substitution C T intron_variant MELA-AU 22 29285883 29285883 single base substitution C T intron_variant MELA-AU 22 29286209 29286210 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 29286370 29286370 single base substitution C T intron_variant MELA-AU 22 29286941 29286941 single base substitution C T intron_variant MELA-AU 22 29287136 29287136 single base substitution C T intron_variant MELA-AU 22 29288021 29288021 single base substitution C T intron_variant MELA-AU 22 29288248 29288248 single base substitution C T intron_variant MELA-AU 22 29288323 29288323 single base substitution C T intron_variant MELA-AU 22 29288717 29288717 single base substitution C A intron_variant MELA-AU 22 29289502 29289502 single base substitution T C intron_variant MELA-AU 22 29289527 29289527 single base substitution C T intron_variant MELA-AU 22 29289682 29289682 single base substitution C T intron_variant MELA-AU 22 29290937 29290937 single base substitution C T intron_variant MELA-AU 22 29292248 29292248 single base substitution G A intron_variant MELA-AU 22 29292317 29292317 single base substitution T C intron_variant MELA-AU 22 29293942 29293942 single base substitution C T intron_variant MELA-AU 22 29295352 29295352 single base substitution T G intron_variant MELA-AU 22 29296187 29296187 single base substitution C T intron_variant MELA-AU 22 29296771 29296771 single base substitution C T intron_variant MELA-AU 22 29297427 29297427 single base substitution T A intron_variant MELA-AU 22 29298019 29298019 single base substitution G A intron_variant MELA-AU 22 29298405 29298405 single base substitution C T intron_variant MELA-AU 22 29298455 29298455 single base substitution C T intron_variant MELA-AU 22 29299491 29299491 single base substitution A C intron_variant MELA-AU 22 29299528 29299528 single base substitution G A intron_variant MELA-AU 22 29300752 29300752 single base substitution G A intron_variant MELA-AU 22 29301986 29301986 single base substitution C T intron_variant MELA-AU 22 29302144 29302144 single base substitution C T intron_variant MELA-AU 22 29302861 29302861 single base substitution C T intron_variant MELA-AU 22 29303344 29303344 single base substitution C T intron_variant MELA-AU 22 29303584 29303584 single base substitution C T intron_variant MELA-AU 22 29303702 29303702 single base substitution C T intron_variant MELA-AU 22 29305233 29305233 single base substitution T C intron_variant MELA-AU 22 29305906 29305906 single base substitution T A intron_variant MELA-AU 22 29305927 29305927 single base substitution T A intron_variant MELA-AU 22 29306019 29306019 single base substitution C T intron_variant MELA-AU 22 29306026 29306026 single base substitution C A intron_variant MELA-AU 22 29308602 29308602 single base substitution C T intron_variant MELA-AU 22 29308602 29308602 single base substitution C T upstream_gene_variant MELA-AU 22 29308749 29308749 single base substitution T C intron_variant MELA-AU 22 29308749 29308749 single base substitution T C upstream_gene_variant MELA-AU 22 29308789 29308789 single base substitution A T intron_variant MELA-AU 22 29308789 29308789 single base substitution A T upstream_gene_variant MELA-AU 22 29308924 29308924 single base substitution G T intron_variant MELA-AU 22 29308924 29308924 single base substitution G T upstream_gene_variant MELA-AU 22 29308967 29308967 single base substitution C T intron_variant MELA-AU 22 29308967 29308967 single base substitution C T upstream_gene_variant MELA-AU 22 29310739 29310739 single base substitution T C intron_variant MELA-AU 22 29310739 29310739 single base substitution T C upstream_gene_variant MELA-AU 22 29310966 29310967 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 29310966 29310967 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 22 29311541 29311541 single base substitution C T intron_variant MELA-AU 22 29311541 29311541 single base substitution C T upstream_gene_variant MELA-AU 22 29311547 29311547 single base substitution T G intron_variant MELA-AU 22 29311547 29311547 single base substitution T G upstream_gene_variant MELA-AU 22 29312264 29312264 single base substitution T C intron_variant MELA-AU 22 29312264 29312264 single base substitution T C upstream_gene_variant MELA-AU 22 29312305 29312305 single base substitution C T intron_variant MELA-AU 22 29312305 29312305 single base substitution C T upstream_gene_variant MELA-AU 22 29313777 29313777 single base substitution C T intron_variant MELA-AU 22 29313859 29313859 single base substitution T C intron_variant MELA-AU 22 29316153 29316153 single base substitution C T intron_variant MELA-AU 22 29316203 29316203 single base substitution C T intron_variant MELA-AU 22 29316353 29316353 single base substitution G A intron_variant MELA-AU 22 29316501 29316501 single base substitution C T intron_variant MELA-AU 22 29316816 29316816 single base substitution C T intron_variant MELA-AU 22 29317157 29317157 single base substitution C T intron_variant MELA-AU 22 29318599 29318599 single base substitution C T intron_variant MELA-AU 22 29320753 29320753 single base substitution A T intron_variant MELA-AU 22 29320999 29320999 single base substitution C T intron_variant MELA-AU 22 29321544 29321544 single base substitution A G intron_variant MELA-AU 22 29322308 29322308 single base substitution C T intron_variant MELA-AU 22 29322619 29322619 single base substitution C T intron_variant MELA-AU 22 29323756 29323756 single base substitution C T intron_variant MELA-AU 22 29324251 29324251 single base substitution C T intron_variant MELA-AU 22 29325421 29325421 single base substitution C T intron_variant MELA-AU 22 29325763 29325763 single base substitution T C intron_variant MELA-AU 22 29325850 29325850 single base substitution G T intron_variant MELA-AU 22 29325864 29325864 single base substitution C T intron_variant MELA-AU 22 29325895 29325895 single base substitution C T intron_variant MELA-AU 22 29326130 29326130 single base substitution T A intron_variant MELA-AU 22 29326356 29326356 single base substitution C T intron_variant MELA-AU 22 29327397 29327397 single base substitution C T intron_variant MELA-AU 22 29327408 29327408 single base substitution C T intron_variant MELA-AU 22 29327409 29327409 single base substitution C T intron_variant MELA-AU 22 29327410 29327410 single base substitution C T intron_variant MELA-AU 22 29328681 29328681 single base substitution C T intron_variant MELA-AU 22 29328717 29328717 single base substitution C T intron_variant MELA-AU 22 29330250 29330252 multiple base substitution (>=2bp and <=200bp) GGA ATG intron_variant MELA-AU 22 29330518 29330518 single base substitution C T intron_variant MELA-AU 22 29330818 29330818 single base substitution A G intron_variant MELA-AU 22 29330850 29330851 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 29331210 29331210 single base substitution C T intron_variant MELA-AU 22 29331303 29331303 single base substitution G T intron_variant MELA-AU 22 29331476 29331476 single base substitution C T intron_variant MELA-AU 22 29331558 29331558 single base substitution C T intron_variant MELA-AU 22 29332271 29332271 single base substitution C T intron_variant MELA-AU 22 29332727 29332727 single base substitution C T intron_variant MELA-AU 22 29335100 29335101 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 29335308 29335308 single base substitution C T intron_variant MELA-AU 22 29335505 29335505 single base substitution C A intron_variant MELA-AU 22 29336105 29336105 single base substitution G A intron_variant MELA-AU 22 29337266 29337266 single base substitution T A intron_variant MELA-AU 22 29337383 29337383 single base substitution C T intron_variant MELA-AU 22 29337477 29337477 single base substitution C T intron_variant MELA-AU 22 29338429 29338429 single base substitution C T intron_variant MELA-AU 22 29338430 29338430 single base substitution C T intron_variant MELA-AU 22 29338636 29338637 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 29339576 29339577 multiple base substitution (>=2bp and <=200bp) TG AT intron_variant MELA-AU 22 29340569 29340569 single base substitution C T intron_variant MELA-AU 22 29340915 29340915 insertion of <=200bp - AAAT intron_variant MELA-AU 22 29340922 29340922 single base substitution T G intron_variant MELA-AU 22 29340926 29340926 single base substitution T G intron_variant MELA-AU 22 29340960 29340960 single base substitution A G intron_variant MELA-AU 22 29341567 29341567 single base substitution G A intron_variant MELA-AU 22 29341707 29341707 single base substitution G A intron_variant MELA-AU 22 29341922 29341922 single base substitution C T intron_variant MELA-AU 22 29342610 29342610 single base substitution C T intron_variant MELA-AU 22 29342681 29342681 single base substitution A G intron_variant MELA-AU 22 29342859 29342859 single base substitution A C intron_variant MELA-AU 22 29343923 29343923 single base substitution C T intron_variant MELA-AU 22 29344080 29344080 single base substitution C T intron_variant MELA-AU 22 29344766 29344766 single base substitution C T intron_variant MELA-AU 22 29344997 29344997 single base substitution C T intron_variant MELA-AU 22 29345431 29345431 single base substitution T A intron_variant MELA-AU 22 29345646 29345646 single base substitution C T intron_variant MELA-AU 22 29345709 29345709 single base substitution T A intron_variant MELA-AU 22 29346041 29346041 single base substitution A G intron_variant MELA-AU 22 29346249 29346249 single base substitution C T intron_variant MELA-AU 22 29347243 29347243 single base substitution C T intron_variant MELA-AU 22 29347340 29347340 single base substitution C T intron_variant MELA-AU 22 29347549 29347549 single base substitution C T intron_variant MELA-AU 22 29347902 29347902 single base substitution C T intron_variant MELA-AU 22 29348328 29348328 single base substitution C T intron_variant MELA-AU 22 29348943 29348943 single base substitution T A intron_variant MELA-AU 22 29349207 29349207 single base substitution C T intron_variant MELA-AU 22 29349523 29349523 single base substitution G A intron_variant MELA-AU 22 29349641 29349641 single base substitution C T intron_variant MELA-AU 22 29349805 29349805 single base substitution A G intron_variant MELA-AU 22 29351355 29351355 single base substitution T C intron_variant MELA-AU 22 29351791 29351791 single base substitution C T intron_variant MELA-AU 22 29352605 29352605 single base substitution C T intron_variant MELA-AU 22 29352981 29352981 single base substitution G A intron_variant MELA-AU 22 29353054 29353054 single base substitution C T intron_variant MELA-AU 22 29354383 29354383 single base substitution C T intron_variant MELA-AU 22 29354660 29354660 single base substitution G A intron_variant MELA-AU 22 29354771 29354771 single base substitution A T intron_variant MELA-AU 22 29355204 29355204 single base substitution C T intron_variant MELA-AU 22 29355205 29355205 single base substitution C T intron_variant MELA-AU 22 29355674 29355674 single base substitution C T intron_variant MELA-AU 22 29356323 29356323 single base substitution C T intron_variant MELA-AU 22 29356384 29356384 single base substitution C T intron_variant MELA-AU 22 29356745 29356745 single base substitution C T intron_variant MELA-AU 22 29356833 29356833 single base substitution G A intron_variant MELA-AU 22 29357359 29357359 single base substitution C T intron_variant MELA-AU 22 29357364 29357364 single base substitution G A intron_variant MELA-AU 22 29357463 29357463 single base substitution C T intron_variant MELA-AU 22 29357547 29357547 single base substitution C T intron_variant MELA-AU 22 29357971 29357971 single base substitution C T intron_variant MELA-AU 22 29357982 29357982 single base substitution C T intron_variant MELA-AU 22 29358242 29358242 single base substitution T C intron_variant MELA-AU 22 29358889 29358889 single base substitution C T intron_variant MELA-AU 22 29359077 29359077 single base substitution A G intron_variant MELA-AU 22 29360053 29360053 single base substitution G A intron_variant MELA-AU 22 29361278 29361278 single base substitution G A intron_variant MELA-AU 22 29362081 29362081 single base substitution C T intron_variant MELA-AU 22 29362170 29362170 single base substitution C T intron_variant MELA-AU 22 29362358 29362358 single base substitution T C intron_variant MELA-AU 22 29362966 29362966 single base substitution C T intron_variant MELA-AU 22 29363036 29363036 single base substitution T A intron_variant MELA-AU 22 29363041 29363041 single base substitution C T intron_variant MELA-AU 22 29364003 29364003 single base substitution C T intron_variant MELA-AU 22 29364228 29364228 single base substitution C T intron_variant MELA-AU 22 29364298 29364298 single base substitution C T intron_variant MELA-AU 22 29364311 29364311 single base substitution C T intron_variant MELA-AU 22 29364312 29364312 single base substitution C T intron_variant MELA-AU 22 29364338 29364338 single base substitution C T intron_variant MELA-AU 22 29364364 29364364 single base substitution C T intron_variant MELA-AU 22 29364848 29364848 single base substitution C T intron_variant MELA-AU 22 29364962 29364962 single base substitution G A intron_variant MELA-AU 22 29365218 29365218 single base substitution C T intron_variant MELA-AU 22 29365349 29365349 single base substitution C T intron_variant MELA-AU 22 29366214 29366214 single base substitution T C intron_variant MELA-AU 22 29366492 29366492 single base substitution C T intron_variant MELA-AU 22 29366720 29366720 single base substitution C T intron_variant MELA-AU 22 29366965 29366965 single base substitution A T intron_variant MELA-AU 22 29367025 29367025 single base substitution T A intron_variant MELA-AU 22 29367213 29367213 single base substitution G A intron_variant MELA-AU 22 29368050 29368050 single base substitution C T intron_variant MELA-AU 22 29368683 29368683 single base substitution C T intron_variant MELA-AU 22 29368982 29368982 single base substitution T A intron_variant MELA-AU 22 29369552 29369552 single base substitution C T intron_variant MELA-AU 22 29369671 29369671 single base substitution T G intron_variant MELA-AU 22 29370418 29370419 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 29370601 29370601 single base substitution C T intron_variant MELA-AU 22 29370870 29370870 single base substitution C T intron_variant MELA-AU 22 29370923 29370924 deletion of <=200bp TG - intron_variant MELA-AU 22 29371365 29371365 single base substitution C T intron_variant MELA-AU 22 29371841 29371841 single base substitution C T intron_variant MELA-AU 22 29372118 29372118 single base substitution C T intron_variant MELA-AU 22 29372854 29372854 single base substitution G A intron_variant MELA-AU 22 29374357 29374357 single base substitution G T intron_variant MELA-AU 22 29374701 29374701 single base substitution C T intron_variant MELA-AU 22 29375289 29375289 single base substitution C T intron_variant MELA-AU 22 29376080 29376080 single base substitution G A intron_variant MELA-AU 22 29377420 29377420 single base substitution C T intron_variant MELA-AU 22 29377733 29377734 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 29378025 29378025 single base substitution C T intron_variant MELA-AU 22 29378042 29378042 single base substitution C T intron_variant MELA-AU 22 29378042 29378042 single base substitution C T upstream_gene_variant MELA-AU 22 29378248 29378248 single base substitution C T intron_variant MELA-AU 22 29378248 29378248 single base substitution C T upstream_gene_variant MELA-AU 22 29379108 29379108 single base substitution C T intron_variant MELA-AU 22 29379108 29379108 single base substitution C T upstream_gene_variant MELA-AU 22 29379129 29379129 single base substitution C T intron_variant MELA-AU 22 29379129 29379129 single base substitution C T upstream_gene_variant MELA-AU 22 29380101 29380101 single base substitution T C intron_variant MELA-AU 22 29380101 29380101 single base substitution T C upstream_gene_variant MELA-AU 22 29380119 29380119 single base substitution T A intron_variant MELA-AU 22 29380119 29380119 single base substitution T A upstream_gene_variant MELA-AU 22 29381127 29381127 single base substitution C T intron_variant MELA-AU 22 29381127 29381127 single base substitution C T upstream_gene_variant MELA-AU 22 29382547 29382547 single base substitution C T intron_variant MELA-AU 22 29382547 29382547 single base substitution C T upstream_gene_variant MELA-AU 22 29382585 29382585 single base substitution G A intron_variant MELA-AU 22 29382585 29382585 single base substitution G A upstream_gene_variant MELA-AU 22 29382807 29382807 single base substitution C T intron_variant MELA-AU 22 29382807 29382807 single base substitution C T upstream_gene_variant MELA-AU 22 29383735 29383735 single base substitution C T intron_variant MELA-AU 22 29383746 29383746 single base substitution C T intron_variant MELA-AU 22 29384134 29384134 single base substitution C T intron_variant MELA-AU 22 29384414 29384414 single base substitution C T intron_variant MELA-AU 22 29384565 29384565 single base substitution C T intron_variant MELA-AU 22 29384572 29384572 single base substitution T C intron_variant MELA-AU 22 29384589 29384589 single base substitution C T intron_variant MELA-AU 22 29384889 29384889 single base substitution C T intron_variant MELA-AU 22 29385241 29385241 single base substitution A G intron_variant MELA-AU 22 29385351 29385351 single base substitution C T intron_variant MELA-AU 22 29385458 29385458 single base substitution C T intron_variant MELA-AU 22 29385603 29385603 single base substitution G A intron_variant MELA-AU 22 29386308 29386308 single base substitution T C intron_variant MELA-AU 22 29386420 29386420 single base substitution C T intron_variant MELA-AU 22 29386650 29386650 single base substitution G A intron_variant MELA-AU 22 29386994 29386994 single base substitution G A intron_variant MELA-AU 22 29387553 29387553 single base substitution T A intron_variant MELA-AU 22 29387640 29387640 single base substitution C T intron_variant MELA-AU 22 29387670 29387670 single base substitution C T intron_variant MELA-AU 22 29387704 29387704 single base substitution C T intron_variant MELA-AU 22 29388422 29388422 single base substitution C T intron_variant MELA-AU 22 29388474 29388474 single base substitution C A intron_variant MELA-AU 22 29389038 29389038 single base substitution C T intron_variant MELA-AU 22 29390744 29390744 deletion of <=200bp T - intron_variant MELA-AU 22 29391013 29391013 single base substitution C T intron_variant MELA-AU 22 29391926 29391926 single base substitution G A intron_variant MELA-AU 22 29392399 29392399 single base substitution C T intron_variant MELA-AU 22 29392929 29392929 single base substitution G A intron_variant MELA-AU 22 29392998 29392998 single base substitution C T intron_variant MELA-AU 22 29394093 29394093 single base substitution C T intron_variant MELA-AU 22 29394866 29394866 single base substitution G A intron_variant MELA-AU 22 29394898 29394898 single base substitution C T intron_variant MELA-AU 22 29395373 29395373 single base substitution G A intron_variant MELA-AU 22 29395699 29395699 single base substitution C T intron_variant MELA-AU 22 29395742 29395742 single base substitution C T intron_variant MELA-AU 22 29395823 29395823 single base substitution C T intron_variant MELA-AU 22 29396108 29396108 single base substitution C T intron_variant MELA-AU 22 29397363 29397363 single base substitution C T intron_variant MELA-AU 22 29398290 29398290 single base substitution G A intron_variant MELA-AU 22 29398575 29398575 single base substitution T A intron_variant MELA-AU 22 29398962 29398962 single base substitution G A intron_variant MELA-AU 22 29399058 29399058 single base substitution C T intron_variant MELA-AU 22 29399687 29399687 single base substitution A T intron_variant MELA-AU 22 29399703 29399703 single base substitution C T intron_variant MELA-AU 22 29399778 29399778 single base substitution C T intron_variant MELA-AU 22 29400794 29400794 single base substitution G A intron_variant MELA-AU 22 29400959 29400959 single base substitution C T intron_variant MELA-AU 22 29401337 29401337 single base substitution C T intron_variant MELA-AU 22 29401456 29401456 single base substitution C T intron_variant MELA-AU 22 29401813 29401813 single base substitution C T intron_variant MELA-AU 22 29402551 29402551 single base substitution C T intron_variant MELA-AU 22 29402552 29402552 single base substitution C T intron_variant MELA-AU 22 29402664 29402664 single base substitution T C intron_variant MELA-AU 22 29402699 29402699 single base substitution G A intron_variant MELA-AU 22 29402759 29402759 single base substitution T C intron_variant MELA-AU 22 29402940 29402940 single base substitution G C intron_variant MELA-AU 22 29403235 29403235 single base substitution G A intron_variant MELA-AU 22 29403335 29403335 single base substitution C A intron_variant MELA-AU 22 29404022 29404022 single base substitution G A intron_variant MELA-AU 22 29404337 29404337 single base substitution C T intron_variant MELA-AU 22 29404595 29404595 single base substitution C T intron_variant MELA-AU 22 29405127 29405127 single base substitution T G intron_variant MELA-AU 22 29405345 29405345 single base substitution G A intron_variant MELA-AU 22 29405935 29405935 single base substitution C T intron_variant MELA-AU 22 29405936 29405936 single base substitution C T intron_variant MELA-AU 22 29407193 29407193 single base substitution C T intron_variant MELA-AU 22 29407747 29407747 single base substitution A G intron_variant MELA-AU 22 29408117 29408117 single base substitution C T intron_variant MELA-AU 22 29408224 29408224 single base substitution A G intron_variant MELA-AU 22 29408618 29408618 single base substitution G T intron_variant MELA-AU 22 29409001 29409001 single base substitution G A intron_variant MELA-AU 22 29410065 29410065 single base substitution G A intron_variant MELA-AU 22 29410338 29410338 single base substitution T C intron_variant MELA-AU 22 29410482 29410482 single base substitution C T intron_variant MELA-AU 22 29411928 29411928 single base substitution C T intron_variant MELA-AU 22 29412287 29412287 single base substitution C T intron_variant MELA-AU 22 29413370 29413370 single base substitution C T intron_variant MELA-AU 22 29413690 29413690 single base substitution C G intron_variant MELA-AU 22 29413839 29413839 single base substitution G A intron_variant MELA-AU 22 29414032 29414032 single base substitution G T intron_variant MELA-AU 22 29414774 29414774 single base substitution G A intron_variant MELA-AU 22 29415003 29415003 single base substitution G A intron_variant MELA-AU 22 29415370 29415370 single base substitution C T intron_variant MELA-AU 22 29415406 29415406 single base substitution C G intron_variant MELA-AU 22 29416723 29416723 single base substitution C T intron_variant MELA-AU 22 29416749 29416749 single base substitution T A intron_variant MELA-AU 22 29416908 29416908 single base substitution C T intron_variant MELA-AU 22 29417175 29417175 single base substitution T C intron_variant MELA-AU 22 29417345 29417345 single base substitution C T intron_variant MELA-AU 22 29417514 29417514 single base substitution C T intron_variant MELA-AU 22 29418574 29418574 single base substitution C T intron_variant MELA-AU 22 29418619 29418619 single base substitution C T intron_variant MELA-AU 22 29418825 29418825 single base substitution C T intron_variant MELA-AU 22 29419623 29419623 single base substitution C T intron_variant MELA-AU 22 29419679 29419679 single base substitution C T intron_variant MELA-AU 22 29420134 29420134 single base substitution C T intron_variant MELA-AU 22 29420579 29420580 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 29421000 29421000 single base substitution C T intron_variant MELA-AU 22 29421148 29421148 single base substitution T A intron_variant MELA-AU 22 29421296 29421296 single base substitution C T intron_variant MELA-AU 22 29421356 29421356 single base substitution C T intron_variant MELA-AU 22 29421441 29421441 single base substitution C T intron_variant MELA-AU 22 29421451 29421451 single base substitution C T intron_variant MELA-AU 22 29421509 29421509 single base substitution C T intron_variant MELA-AU 22 29421574 29421574 single base substitution T A intron_variant MELA-AU 22 29421735 29421735 single base substitution C T intron_variant MELA-AU 22 29421836 29421836 single base substitution G A intron_variant MELA-AU 22 29422514 29422514 deletion of <=200bp T - intron_variant MELA-AU 22 29422529 29422529 single base substitution C T intron_variant MELA-AU 22 29423196 29423196 single base substitution G A intron_variant MELA-AU 22 29423264 29423264 single base substitution C T intron_variant MELA-AU 22 29423525 29423525 single base substitution C T intron_variant MELA-AU 22 29423761 29423761 single base substitution C T intron_variant MELA-AU 22 29424289 29424289 single base substitution C T intron_variant MELA-AU 22 29424456 29424456 single base substitution C T intron_variant MELA-AU 22 29424814 29424814 single base substitution C T intron_variant MELA-AU 22 29425093 29425093 single base substitution C T intron_variant MELA-AU 22 29425157 29425157 single base substitution C T intron_variant MELA-AU 22 29426462 29426462 single base substitution C T intron_variant MELA-AU 22 29428009 29428009 single base substitution C T intron_variant MELA-AU 22 29428609 29428610 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 29428688 29428689 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 29429221 29429221 single base substitution C T intron_variant MELA-AU 22 29429459 29429459 single base substitution G A intron_variant MELA-AU 22 29429578 29429578 single base substitution G A intron_variant MELA-AU 22 29429928 29429928 single base substitution G A intron_variant MELA-AU 22 29430238 29430238 single base substitution C T intron_variant MELA-AU 22 29430890 29430890 single base substitution C T intron_variant MELA-AU 22 29431304 29431304 single base substitution C T intron_variant MELA-AU 22 29431526 29431526 single base substitution G T intron_variant MELA-AU 22 29431793 29431793 single base substitution C T intron_variant MELA-AU 22 29432391 29432391 single base substitution A T intron_variant MELA-AU 22 29433036 29433036 single base substitution G A intron_variant MELA-AU 22 29433413 29433413 single base substitution C T intron_variant MELA-AU 22 29434060 29434061 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 29434367 29434367 single base substitution C T intron_variant MELA-AU 22 29434507 29434507 single base substitution G A intron_variant MELA-AU 22 29434860 29434860 single base substitution C T intron_variant MELA-AU 22 29435164 29435164 single base substitution C T intron_variant MELA-AU 22 29435254 29435254 single base substitution C T intron_variant MELA-AU 22 29435555 29435556 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 29436170 29436170 single base substitution C T intron_variant MELA-AU 22 29436172 29436173 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 29436202 29436202 single base substitution C T intron_variant MELA-AU 22 29436472 29436472 single base substitution C T intron_variant MELA-AU 22 29436865 29436865 single base substitution C T intron_variant MELA-AU 22 29437254 29437255 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 29437531 29437531 single base substitution C T intron_variant MELA-AU 22 29437544 29437544 single base substitution C T intron_variant MELA-AU 22 29437978 29437978 single base substitution G A intron_variant MELA-AU 22 29438043 29438043 single base substitution C T intron_variant MELA-AU 22 29438087 29438087 single base substitution G A intron_variant MELA-AU 22 29438207 29438207 single base substitution C T intron_variant MELA-AU 22 29438539 29438539 single base substitution C T synonymous_variant N161N 483C>T MELA-AU 22 29438539 29438539 single base substitution C T synonymous_variant N61N 183C>T MELA-AU 22 29438776 29438776 single base substitution C T intron_variant MELA-AU 22 29439107 29439107 single base substitution C T intron_variant MELA-AU 22 29439707 29439707 single base substitution C T intron_variant MELA-AU 22 29439750 29439773 deletion of <=200bp GGGGCATCCAGCACCTGGCTTCCC - intron_variant MELA-AU 22 29439971 29439971 single base substitution C T intron_variant MELA-AU 22 29440566 29440566 single base substitution C T intron_variant MELA-AU 22 29440568 29440568 single base substitution C T intron_variant MELA-AU 22 29440674 29440674 single base substitution C T intron_variant MELA-AU 22 29440714 29440714 single base substitution C T intron_variant MELA-AU 22 29440732 29440732 single base substitution G A intron_variant MELA-AU 22 29441079 29441079 single base substitution T G intron_variant MELA-AU 22 29441176 29441177 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 29441760 29441760 single base substitution C T intron_variant MELA-AU 22 29441918 29441918 single base substitution C T intron_variant MELA-AU 22 29442000 29442000 single base substitution C T intron_variant MELA-AU 22 29442006 29442006 single base substitution C T intron_variant MELA-AU 22 29442353 29442354 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 29442831 29442831 single base substitution C T missense_variant S191F 572C>T MELA-AU 22 29442831 29442831 single base substitution C T missense_variant S291F 872C>T MELA-AU 22 29443577 29443577 single base substitution C T intron_variant MELA-AU 22 29443867 29443867 single base substitution C T intron_variant MELA-AU 22 29444428 29444428 single base substitution C T missense_variant P222S 664C>T MELA-AU 22 29444428 29444428 single base substitution C T missense_variant P322S 964C>T MELA-AU 22 29444429 29444429 single base substitution C T missense_variant P222L 665C>T MELA-AU 22 29444429 29444429 single base substitution C T missense_variant P322L 965C>T MELA-AU 22 29444635 29444635 single base substitution C T intron_variant MELA-AU 22 29444661 29444661 single base substitution C T intron_variant MELA-AU 22 29444729 29444729 single base substitution C T intron_variant MELA-AU 22 29444919 29444919 single base substitution C T intron_variant MELA-AU 22 29445275 29445275 single base substitution C T missense_variant P269L 806C>T MELA-AU 22 29445275 29445275 single base substitution C T missense_variant P369L 1106C>T MELA-AU 22 29445304 29445304 single base substitution C T missense_variant P279S 835C>T MELA-AU 22 29445304 29445304 single base substitution C T missense_variant P379S 1135C>T MELA-AU 22 29445504 29445504 single base substitution C T synonymous_variant P345P 1035C>T MELA-AU 22 29445504 29445504 single base substitution C T synonymous_variant P445P 1335C>T MELA-AU 22 29447194 29447194 single base substitution C T intron_variant MELA-AU 22 29447666 29447666 single base substitution G A intron_variant MELA-AU 22 29447692 29447692 single base substitution C T intron_variant MELA-AU 22 29448483 29448483 single base substitution C T intron_variant MELA-AU 22 29449020 29449020 single base substitution C T intron_variant MELA-AU 22 29449080 29449080 single base substitution C T intron_variant MELA-AU 22 29449139 29449139 single base substitution C T intron_variant MELA-AU 22 29449825 29449825 single base substitution C T 3_prime_UTR_variant MELA-AU 22 29449825 29449825 single base substitution C T downstream_gene_variant MELA-AU 22 29450202 29450202 single base substitution C T 3_prime_UTR_variant MELA-AU 22 29450202 29450202 single base substitution C T downstream_gene_variant MELA-AU 22 29450656 29450657 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 22 29450656 29450657 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 29451119 29451119 single base substitution C T 3_prime_UTR_variant MELA-AU 22 29451119 29451119 single base substitution C T downstream_gene_variant MELA-AU 22 29451282 29451282 single base substitution T C 3_prime_UTR_variant MELA-AU 22 29451282 29451282 single base substitution T C downstream_gene_variant MELA-AU 22 29451309 29451310 multiple base substitution (>=2bp and <=200bp) GG AC 3_prime_UTR_variant MELA-AU 22 29451309 29451310 multiple base substitution (>=2bp and <=200bp) GG AC downstream_gene_variant MELA-AU 22 29451351 29451351 single base substitution C T 3_prime_UTR_variant MELA-AU 22 29451351 29451351 single base substitution C T downstream_gene_variant MELA-AU 22 29451373 29451373 single base substitution G A 3_prime_UTR_variant MELA-AU 22 29451373 29451373 single base substitution G A downstream_gene_variant MELA-AU 22 29452426 29452426 single base substitution T G 3_prime_UTR_variant MELA-AU 22 29452426 29452426 single base substitution T G downstream_gene_variant MELA-AU 22 29452631 29452631 single base substitution C T 3_prime_UTR_variant MELA-AU 22 29452631 29452631 single base substitution C T downstream_gene_variant MELA-AU 22 29453057 29453057 single base substitution C T 3_prime_UTR_variant MELA-AU 22 29453057 29453057 single base substitution C T downstream_gene_variant MELA-AU 22 29453058 29453058 single base substitution C T 3_prime_UTR_variant MELA-AU 22 29453058 29453058 single base substitution C T downstream_gene_variant MELA-AU 22 29453776 29453776 single base substitution T A downstream_gene_variant MELA-AU 22 29454813 29454813 single base substitution C T downstream_gene_variant MELA-AU 22 29454914 29454914 single base substitution C T downstream_gene_variant MELA-AU 22 29455688 29455688 single base substitution C T downstream_gene_variant MELA-AU 22 29455929 29455929 single base substitution C T downstream_gene_variant MELA-AU 22 29455979 29455979 single base substitution C T downstream_gene_variant MELA-AU 22 29455997 29455997 single base substitution T A downstream_gene_variant MELA-AU 22 29456357 29456357 single base substitution C T downstream_gene_variant MELA-AU 22 29456382 29456382 single base substitution C T downstream_gene_variant MELA-AU 22 29456539 29456539 single base substitution C T downstream_gene_variant MELA-AU 22 29456726 29456726 single base substitution G A downstream_gene_variant MELA-AU 22 29457137 29457137 single base substitution G A downstream_gene_variant MELA-AU 22 29457495 29457495 single base substitution C T downstream_gene_variant MELA-AU 22 29457847 29457847 single base substitution C T downstream_gene_variant MELA-AU 22 29458297 29458297 single base substitution C T downstream_gene_variant MELA-AU 22 29458335 29458335 single base substitution G A downstream_gene_variant MELA-AU 22 29458377 29458377 single base substitution C T downstream_gene_variant ORCA-IN 22 29285363 29285364 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant ORCA-IN 22 29297425 29297425 single base substitution C T intron_variant ORCA-IN 22 29308653 29308653 insertion of <=200bp - C intron_variant ORCA-IN 22 29308653 29308653 insertion of <=200bp - C upstream_gene_variant ORCA-IN 22 29313264 29313264 single base substitution C A intron_variant ORCA-IN 22 29313264 29313264 single base substitution C A upstream_gene_variant ORCA-IN 22 29326560 29326560 single base substitution C G intron_variant ORCA-IN 22 29346574 29346574 single base substitution C A intron_variant ORCA-IN 22 29370622 29370622 single base substitution C T intron_variant ORCA-IN 22 29371644 29371644 single base substitution G A intron_variant ORCA-IN 22 29374866 29374866 single base substitution C T intron_variant ORCA-IN 22 29391960 29391960 single base substitution T C intron_variant ORCA-IN 22 29410140 29410140 single base substitution G A intron_variant ORCA-IN 22 29414167 29414167 single base substitution G T intron_variant ORCA-IN 22 29421483 29421483 single base substitution T C intron_variant ORCA-IN 22 29434957 29434957 single base substitution G T intron_variant ORCA-IN 22 29436513 29436513 single base substitution G A intron_variant OV-AU 22 29275146 29275146 single base substitution G T upstream_gene_variant OV-AU 22 29275147 29275147 single base substitution C G upstream_gene_variant OV-AU 22 29277133 29277133 single base substitution C T upstream_gene_variant OV-AU 22 29281447 29281447 single base substitution A G intron_variant OV-AU 22 29294228 29294228 single base substitution G C intron_variant OV-AU 22 29296943 29296943 single base substitution A T intron_variant OV-AU 22 29297133 29297133 single base substitution T A intron_variant OV-AU 22 29312482 29312482 single base substitution C T intron_variant OV-AU 22 29312482 29312482 single base substitution C T upstream_gene_variant OV-AU 22 29312612 29312612 single base substitution G C intron_variant OV-AU 22 29312612 29312612 single base substitution G C upstream_gene_variant OV-AU 22 29316154 29316154 single base substitution A G intron_variant OV-AU 22 29325716 29325716 single base substitution C G intron_variant OV-AU 22 29340955 29340955 single base substitution A G intron_variant OV-AU 22 29344985 29344985 single base substitution G T intron_variant OV-AU 22 29346364 29346364 single base substitution G C intron_variant OV-AU 22 29346866 29346866 single base substitution C T intron_variant OV-AU 22 29353085 29353085 single base substitution G T intron_variant OV-AU 22 29366778 29366778 single base substitution G T intron_variant OV-AU 22 29372232 29372232 single base substitution G T intron_variant OV-AU 22 29372673 29372673 single base substitution C G intron_variant OV-AU 22 29374691 29374691 single base substitution C T intron_variant OV-AU 22 29387477 29387477 single base substitution C T intron_variant OV-AU 22 29391729 29391729 single base substitution G A intron_variant OV-AU 22 29394421 29394421 single base substitution G A intron_variant OV-AU 22 29395420 29395420 single base substitution T C intron_variant OV-AU 22 29397449 29397449 single base substitution G T intron_variant OV-AU 22 29403115 29403115 single base substitution G A intron_variant OV-AU 22 29411212 29411212 single base substitution C T intron_variant OV-AU 22 29412943 29412943 single base substitution C G intron_variant OV-AU 22 29419842 29419842 single base substitution G C intron_variant OV-AU 22 29431883 29431883 single base substitution C T intron_variant OV-AU 22 29433144 29433144 single base substitution G T intron_variant OV-AU 22 29434849 29434849 single base substitution G A intron_variant OV-AU 22 29436207 29436207 single base substitution G A intron_variant OV-AU 22 29441812 29441812 single base substitution C T intron_variant OV-AU 22 29444050 29444050 single base substitution T A intron_variant OV-AU 22 29448485 29448485 single base substitution A G intron_variant OV-AU 22 29450227 29450227 single base substitution A G 3_prime_UTR_variant OV-AU 22 29450227 29450227 single base substitution A G downstream_gene_variant OV-AU 22 29450904 29450904 single base substitution T G 3_prime_UTR_variant OV-AU 22 29450904 29450904 single base substitution T G downstream_gene_variant OV-AU 22 29451431 29451431 single base substitution T C 3_prime_UTR_variant OV-AU 22 29451431 29451431 single base substitution T C downstream_gene_variant OV-AU 22 29457630 29457630 single base substitution A G downstream_gene_variant OV-AU 22 29457754 29457754 single base substitution T G downstream_gene_variant OV-US 22 29445294 29445294 single base substitution C G synonymous_variant T275T 825C>G OV-US 22 29445294 29445294 single base substitution C G synonymous_variant T375T 1125C>G PACA-AU 22 29277993 29277993 single base substitution A C upstream_gene_variant PACA-AU 22 29282939 29282939 single base substitution C G intron_variant PACA-AU 22 29286284 29286284 single base substitution C T intron_variant PACA-AU 22 29294648 29294648 deletion of <=200bp C - intron_variant PACA-AU 22 29297763 29297763 single base substitution C T intron_variant PACA-AU 22 29301049 29301049 single base substitution G T intron_variant PACA-AU 22 29310357 29310357 single base substitution G C intron_variant PACA-AU 22 29310357 29310357 single base substitution G C upstream_gene_variant PACA-AU 22 29319715 29319715 single base substitution A G intron_variant PACA-AU 22 29330931 29330931 single base substitution C G intron_variant PACA-AU 22 29331477 29331477 single base substitution C T intron_variant PACA-AU 22 29335001 29335001 single base substitution G T intron_variant PACA-AU 22 29338608 29338608 single base substitution C T intron_variant PACA-AU 22 29363860 29363860 single base substitution G T intron_variant PACA-AU 22 29371758 29371758 single base substitution C T intron_variant PACA-AU 22 29373143 29373143 single base substitution C G intron_variant PACA-AU 22 29373148 29373148 single base substitution G C intron_variant PACA-AU 22 29390780 29390780 single base substitution A G intron_variant PACA-AU 22 29393008 29393008 single base substitution C T intron_variant PACA-AU 22 29394388 29394388 single base substitution C G intron_variant PACA-AU 22 29396259 29396260 deletion of <=200bp TA - intron_variant PACA-AU 22 29396668 29396668 single base substitution G C intron_variant PACA-AU 22 29408542 29408542 single base substitution A T intron_variant PACA-AU 22 29408753 29408753 single base substitution G T intron_variant PACA-AU 22 29411295 29411295 single base substitution G A intron_variant PACA-AU 22 29418615 29418615 single base substitution C G intron_variant PACA-AU 22 29421849 29421849 single base substitution T G intron_variant PACA-AU 22 29422629 29422629 single base substitution G T intron_variant PACA-AU 22 29427654 29427654 single base substitution G A intron_variant PACA-AU 22 29428776 29428776 single base substitution G A intron_variant PACA-AU 22 29431563 29431563 single base substitution T A intron_variant PACA-AU 22 29431873 29431873 single base substitution C T intron_variant PACA-AU 22 29434954 29434955 deletion of <=200bp AG - intron_variant PACA-AU 22 29436824 29436824 single base substitution T G intron_variant PACA-AU 22 29436846 29436846 single base substitution A C intron_variant PACA-AU 22 29444320 29444320 single base substitution A C intron_variant PACA-AU 22 29444799 29444799 single base substitution G C intron_variant PACA-AU 22 29445618 29445618 deletion of <=200bp G - frameshift_variant E383 PACA-AU 22 29445618 29445618 deletion of <=200bp G - frameshift_variant E483 PACA-AU 22 29449707 29449707 insertion of <=200bp - AC 3_prime_UTR_variant PACA-AU 22 29449707 29449707 insertion of <=200bp - AC downstream_gene_variant PACA-AU 22 29451587 29451587 single base substitution G A 3_prime_UTR_variant PACA-AU 22 29451587 29451587 single base substitution G A downstream_gene_variant PACA-AU 22 29452432 29452432 single base substitution G C 3_prime_UTR_variant PACA-AU 22 29452432 29452432 single base substitution G C downstream_gene_variant PACA-AU 22 29455528 29455528 single base substitution G A downstream_gene_variant PACA-AU 22 29457866 29457866 single base substitution T C downstream_gene_variant PACA-CA 22 29277573 29277573 single base substitution C T upstream_gene_variant PACA-CA 22 29285579 29285579 single base substitution G T intron_variant PACA-CA 22 29286766 29286766 single base substitution G T intron_variant PACA-CA 22 29286771 29286771 single base substitution G C intron_variant PACA-CA 22 29288187 29288187 insertion of <=200bp - C intron_variant PACA-CA 22 29295452 29295452 single base substitution G A intron_variant PACA-CA 22 29305050 29305050 insertion of <=200bp - T intron_variant PACA-CA 22 29305165 29305165 single base substitution G A intron_variant PACA-CA 22 29314877 29314877 single base substitution T C intron_variant PACA-CA 22 29321505 29321505 single base substitution T C intron_variant PACA-CA 22 29321901 29321901 single base substitution C A intron_variant PACA-CA 22 29332751 29332751 single base substitution G T intron_variant PACA-CA 22 29334322 29334322 single base substitution C T intron_variant PACA-CA 22 29337156 29337156 single base substitution G A intron_variant PACA-CA 22 29339084 29339084 single base substitution C T intron_variant PACA-CA 22 29341554 29341554 single base substitution T G intron_variant PACA-CA 22 29342199 29342199 insertion of <=200bp - C intron_variant PACA-CA 22 29349598 29349598 single base substitution G C intron_variant PACA-CA 22 29353578 29353578 single base substitution C A intron_variant PACA-CA 22 29359666 29359666 single base substitution G A intron_variant PACA-CA 22 29361405 29361405 single base substitution T C intron_variant PACA-CA 22 29363588 29363588 single base substitution C T intron_variant PACA-CA 22 29364975 29364975 single base substitution C T intron_variant PACA-CA 22 29374132 29374132 single base substitution G A intron_variant PACA-CA 22 29380598 29380598 single base substitution G A intron_variant PACA-CA 22 29380598 29380598 single base substitution G A upstream_gene_variant PACA-CA 22 29384650 29384650 single base substitution A G intron_variant PACA-CA 22 29388479 29388479 single base substitution A T intron_variant PACA-CA 22 29398579 29398579 single base substitution C G intron_variant PACA-CA 22 29401295 29401295 single base substitution T C intron_variant PACA-CA 22 29404299 29404299 single base substitution C T intron_variant PACA-CA 22 29404319 29404319 single base substitution G T intron_variant PACA-CA 22 29405324 29405324 single base substitution C T intron_variant PACA-CA 22 29406459 29406459 single base substitution A G intron_variant PACA-CA 22 29409996 29409997 deletion of <=200bp TG - intron_variant PACA-CA 22 29410675 29410675 single base substitution A T intron_variant PACA-CA 22 29412110 29412110 single base substitution G A intron_variant PACA-CA 22 29413913 29413913 single base substitution C T intron_variant PACA-CA 22 29415489 29415489 single base substitution A G intron_variant PACA-CA 22 29416615 29416615 single base substitution C G intron_variant PACA-CA 22 29417220 29417220 insertion of <=200bp - A intron_variant PACA-CA 22 29417979 29417979 single base substitution C T intron_variant PACA-CA 22 29420528 29420528 single base substitution G A intron_variant PACA-CA 22 29425605 29425605 insertion of <=200bp - A intron_variant PACA-CA 22 29431304 29431304 single base substitution C A intron_variant PACA-CA 22 29434955 29434955 single base substitution G T intron_variant PACA-CA 22 29439330 29439330 single base substitution A C missense_variant Y182S 545A>C PACA-CA 22 29439330 29439330 single base substitution A C missense_variant Y82S 245A>C PACA-CA 22 29439437 29439437 single base substitution T C intron_variant PACA-CA 22 29440311 29440311 single base substitution C A intron_variant PACA-CA 22 29440711 29440711 single base substitution T A intron_variant PACA-CA 22 29444628 29444628 single base substitution G A intron_variant PACA-CA 22 29446611 29446611 single base substitution A C synonymous_variant P714P 2142A>C PACA-CA 22 29446611 29446611 single base substitution A C synonymous_variant P814P 2442A>C PACA-CA 22 29453323 29453324 deletion of <=200bp AC - 3_prime_UTR_variant PACA-CA 22 29453323 29453324 deletion of <=200bp AC - downstream_gene_variant PAEN-AU 22 29314546 29314546 single base substitution G A intron_variant PAEN-AU 22 29334913 29334913 single base substitution G C intron_variant PAEN-AU 22 29340915 29340915 insertion of <=200bp - AAAT intron_variant PAEN-AU 22 29417393 29417393 single base substitution G A intron_variant PAEN-AU 22 29423661 29423661 single base substitution A G intron_variant PAEN-IT 22 29299412 29299412 single base substitution G A intron_variant PAEN-IT 22 29303676 29303676 single base substitution A G intron_variant PAEN-IT 22 29405049 29405049 single base substitution C A intron_variant PAEN-IT 22 29415522 29415522 single base substitution C G intron_variant PBCA-DE 22 29278355 29278355 single base substitution A C upstream_gene_variant PBCA-DE 22 29279408 29279408 single base substitution A G upstream_gene_variant PBCA-DE 22 29286984 29286984 single base substitution A T intron_variant PBCA-DE 22 29308635 29308635 single base substitution G T intron_variant PBCA-DE 22 29308635 29308635 single base substitution G T upstream_gene_variant PBCA-DE 22 29318843 29318843 single base substitution C A intron_variant PBCA-DE 22 29324731 29324731 single base substitution G A intron_variant PBCA-DE 22 29329736 29329736 single base substitution A T intron_variant PBCA-DE 22 29338637 29338637 single base substitution C T intron_variant PBCA-DE 22 29340566 29340570 deletion of <=200bp AACCC - intron_variant PBCA-DE 22 29353648 29353648 single base substitution C A intron_variant PBCA-DE 22 29365026 29365026 single base substitution C T intron_variant PBCA-DE 22 29378420 29378426 deletion of <=200bp ACAAAAA - intron_variant PBCA-DE 22 29378420 29378426 deletion of <=200bp ACAAAAA - upstream_gene_variant PBCA-DE 22 29388661 29388661 single base substitution G C intron_variant PBCA-DE 22 29390525 29390525 single base substitution C A intron_variant PBCA-DE 22 29394285 29394285 insertion of <=200bp - A intron_variant PBCA-DE 22 29410487 29410487 single base substitution G A intron_variant PBCA-DE 22 29416570 29416570 single base substitution C T intron_variant PBCA-DE 22 29430732 29430732 single base substitution T G intron_variant PBCA-DE 22 29434955 29434955 single base substitution G T intron_variant PBCA-DE 22 29437126 29437126 insertion of <=200bp - ATGT intron_variant PBCA-DE 22 29439669 29439669 single base substitution C A intron_variant PBCA-DE 22 29440281 29440281 deletion of <=200bp A - intron_variant PBCA-DE 22 29442923 29442923 single base substitution C T intron_variant PBCA-DE 22 29450321 29450321 single base substitution G A 3_prime_UTR_variant PBCA-DE 22 29450321 29450321 single base substitution G A downstream_gene_variant PBCA-DE 22 29452310 29452310 single base substitution G A 3_prime_UTR_variant PBCA-DE 22 29452310 29452310 single base substitution G A downstream_gene_variant PRAD-CA 22 29276665 29276665 single base substitution C T upstream_gene_variant PRAD-CA 22 29283223 29283223 single base substitution A T intron_variant PRAD-CA 22 29328972 29328972 single base substitution T C intron_variant PRAD-CA 22 29341530 29341530 single base substitution C T intron_variant PRAD-CA 22 29347847 29347847 single base substitution G A intron_variant PRAD-CA 22 29372633 29372633 single base substitution T G intron_variant PRAD-CA 22 29380564 29380564 single base substitution G A intron_variant PRAD-CA 22 29380564 29380564 single base substitution G A upstream_gene_variant PRAD-CA 22 29423102 29423102 single base substitution G A intron_variant PRAD-CA 22 29428776 29428776 single base substitution G C intron_variant PRAD-CA 22 29436462 29436462 single base substitution C G intron_variant PRAD-CA 22 29443958 29443958 single base substitution T C intron_variant PRAD-CA 22 29451312 29451312 single base substitution C T 3_prime_UTR_variant PRAD-CA 22 29451312 29451312 single base substitution C T downstream_gene_variant PRAD-UK 22 29292185 29292185 single base substitution C T intron_variant PRAD-UK 22 29292643 29292643 single base substitution A G intron_variant PRAD-UK 22 29306363 29306363 insertion of <=200bp - A intron_variant PRAD-UK 22 29306370 29306370 insertion of <=200bp - A intron_variant PRAD-UK 22 29312410 29312410 single base substitution A C intron_variant PRAD-UK 22 29312410 29312410 single base substitution A C upstream_gene_variant PRAD-UK 22 29326145 29326145 single base substitution G T intron_variant PRAD-UK 22 29335651 29335651 insertion of <=200bp - A intron_variant PRAD-UK 22 29343544 29343544 deletion of <=200bp T - intron_variant PRAD-UK 22 29348883 29348883 single base substitution A G intron_variant PRAD-UK 22 29355999 29356012 deletion of <=200bp GCCTGAGCAGACTG - intron_variant PRAD-UK 22 29359218 29359218 single base substitution C G intron_variant PRAD-UK 22 29382182 29382182 single base substitution G A intron_variant PRAD-UK 22 29382182 29382182 single base substitution G A upstream_gene_variant PRAD-UK 22 29394653 29394653 single base substitution T G intron_variant PRAD-UK 22 29397119 29397119 single base substitution C T intron_variant PRAD-UK 22 29399101 29399101 single base substitution G T intron_variant PRAD-UK 22 29414293 29414293 single base substitution G A intron_variant PRAD-UK 22 29440432 29440432 single base substitution A C intron_variant PRAD-UK 22 29448128 29448128 single base substitution C G intron_variant PRAD-UK 22 29457241 29457241 single base substitution C T downstream_gene_variant READ-US 22 29445770 29445770 single base substitution G A missense_variant G434D 1301G>A READ-US 22 29445770 29445770 single base substitution G A missense_variant G534D 1601G>A RECA-EU 22 29282948 29282948 single base substitution A G intron_variant RECA-EU 22 29283779 29283779 single base substitution T G intron_variant RECA-EU 22 29289441 29289441 single base substitution A G intron_variant RECA-EU 22 29291938 29291938 single base substitution T C intron_variant RECA-EU 22 29301088 29301088 single base substitution T C intron_variant RECA-EU 22 29302302 29302302 single base substitution T C intron_variant RECA-EU 22 29326594 29326594 single base substitution C T intron_variant RECA-EU 22 29328106 29328106 single base substitution C A intron_variant RECA-EU 22 29330593 29330593 single base substitution G C intron_variant RECA-EU 22 29337561 29337561 single base substitution G A intron_variant RECA-EU 22 29339964 29339964 single base substitution C A intron_variant RECA-EU 22 29348758 29348758 single base substitution G A intron_variant RECA-EU 22 29349244 29349244 single base substitution A G intron_variant RECA-EU 22 29361300 29361300 single base substitution T C intron_variant RECA-EU 22 29369943 29369943 single base substitution T C intron_variant RECA-EU 22 29398050 29398050 single base substitution T C intron_variant RECA-EU 22 29411114 29411114 single base substitution G T intron_variant RECA-EU 22 29425402 29425402 single base substitution T A intron_variant RECA-EU 22 29434289 29434289 single base substitution G A intron_variant RECA-EU 22 29437627 29437627 single base substitution G A intron_variant RECA-EU 22 29443537 29443537 single base substitution C G intron_variant RECA-EU 22 29444863 29444863 single base substitution G C intron_variant RECA-EU 22 29444864 29444864 single base substitution C A intron_variant RECA-EU 22 29447114 29447114 single base substitution T C intron_variant RECA-EU 22 29450291 29450291 single base substitution A G 3_prime_UTR_variant RECA-EU 22 29450291 29450291 single base substitution A G downstream_gene_variant RECA-EU 22 29453601 29453601 single base substitution T G downstream_gene_variant RECA-EU 22 29458046 29458046 single base substitution G T downstream_gene_variant SKCA-BR 22 29277477 29277477 single base substitution C T upstream_gene_variant SKCA-BR 22 29280160 29280160 single base substitution A G intron_variant SKCA-BR 22 29281889 29281889 single base substitution C T intron_variant SKCA-BR 22 29283223 29283223 insertion of <=200bp - AGAGT intron_variant SKCA-BR 22 29284943 29284943 single base substitution T A intron_variant SKCA-BR 22 29286557 29286557 single base substitution A T intron_variant SKCA-BR 22 29289565 29289565 single base substitution A C intron_variant SKCA-BR 22 29290158 29290158 single base substitution T C intron_variant SKCA-BR 22 29293552 29293552 single base substitution A C intron_variant SKCA-BR 22 29297623 29297625 deletion of <=200bp CTT - intron_variant SKCA-BR 22 29297920 29297921 deletion of <=200bp CT - intron_variant SKCA-BR 22 29299314 29299314 single base substitution G A intron_variant SKCA-BR 22 29300306 29300306 single base substitution C T intron_variant SKCA-BR 22 29302245 29302245 single base substitution G T intron_variant SKCA-BR 22 29305120 29305120 single base substitution C T intron_variant SKCA-BR 22 29305735 29305735 insertion of <=200bp - AT intron_variant SKCA-BR 22 29307836 29307836 single base substitution C T intron_variant SKCA-BR 22 29309405 29309405 single base substitution T G intron_variant SKCA-BR 22 29309405 29309405 single base substitution T G upstream_gene_variant SKCA-BR 22 29309535 29309535 single base substitution C T intron_variant SKCA-BR 22 29309535 29309535 single base substitution C T upstream_gene_variant SKCA-BR 22 29310008 29310008 single base substitution A G intron_variant SKCA-BR 22 29310008 29310008 single base substitution A G upstream_gene_variant SKCA-BR 22 29310483 29310483 insertion of <=200bp - CT intron_variant SKCA-BR 22 29310483 29310483 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 22 29311542 29311542 single base substitution C T intron_variant SKCA-BR 22 29311542 29311542 single base substitution C T upstream_gene_variant SKCA-BR 22 29316395 29316395 single base substitution A G intron_variant SKCA-BR 22 29317063 29317063 single base substitution G A intron_variant SKCA-BR 22 29317104 29317104 single base substitution C T intron_variant SKCA-BR 22 29319644 29319644 single base substitution A C intron_variant SKCA-BR 22 29324736 29324736 single base substitution G T intron_variant SKCA-BR 22 29325986 29325986 single base substitution G T intron_variant SKCA-BR 22 29327923 29327923 single base substitution C T intron_variant SKCA-BR 22 29333183 29333213 deletion of <=200bp ATATATATATATATATATATATTTTTTTTTT - intron_variant SKCA-BR 22 29338656 29338656 single base substitution G C intron_variant SKCA-BR 22 29344159 29344159 insertion of <=200bp - AT intron_variant SKCA-BR 22 29345634 29345634 single base substitution G A intron_variant SKCA-BR 22 29345635 29345635 single base substitution G A intron_variant SKCA-BR 22 29347220 29347220 single base substitution C T intron_variant SKCA-BR 22 29351041 29351041 single base substitution T G intron_variant SKCA-BR 22 29354771 29354771 single base substitution A C intron_variant SKCA-BR 22 29357167 29357167 single base substitution C A intron_variant SKCA-BR 22 29358950 29358950 single base substitution T G intron_variant SKCA-BR 22 29360450 29360450 single base substitution G A intron_variant SKCA-BR 22 29361285 29361285 single base substitution A C intron_variant SKCA-BR 22 29371427 29371427 single base substitution T G intron_variant SKCA-BR 22 29371517 29371517 single base substitution G A intron_variant SKCA-BR 22 29372854 29372854 single base substitution G A intron_variant SKCA-BR 22 29379109 29379109 single base substitution C T intron_variant SKCA-BR 22 29379109 29379109 single base substitution C T upstream_gene_variant SKCA-BR 22 29382328 29382328 single base substitution C T intron_variant SKCA-BR 22 29382328 29382328 single base substitution C T upstream_gene_variant SKCA-BR 22 29382784 29382784 single base substitution C T intron_variant SKCA-BR 22 29382784 29382784 single base substitution C T upstream_gene_variant SKCA-BR 22 29385459 29385459 single base substitution C G intron_variant SKCA-BR 22 29385737 29385737 single base substitution T G intron_variant SKCA-BR 22 29388150 29388150 insertion of <=200bp - TC intron_variant SKCA-BR 22 29388167 29388167 single base substitution C T intron_variant SKCA-BR 22 29389181 29389181 single base substitution A C intron_variant SKCA-BR 22 29392892 29392892 single base substitution A G intron_variant SKCA-BR 22 29392919 29392919 single base substitution C T intron_variant SKCA-BR 22 29393791 29393791 single base substitution C T intron_variant SKCA-BR 22 29399935 29399935 single base substitution G A intron_variant SKCA-BR 22 29402419 29402419 single base substitution C T intron_variant SKCA-BR 22 29404796 29404796 single base substitution G T intron_variant SKCA-BR 22 29405247 29405247 single base substitution C T intron_variant SKCA-BR 22 29406564 29406564 single base substitution C T intron_variant SKCA-BR 22 29409304 29409304 single base substitution C T intron_variant SKCA-BR 22 29409351 29409351 single base substitution T A intron_variant SKCA-BR 22 29412002 29412002 insertion of <=200bp - CA intron_variant SKCA-BR 22 29413082 29413082 single base substitution T G intron_variant SKCA-BR 22 29416528 29416528 single base substitution T G intron_variant SKCA-BR 22 29416694 29416694 single base substitution T A intron_variant SKCA-BR 22 29416749 29416761 deletion of <=200bp TTTTGTGTGTGTG - intron_variant SKCA-BR 22 29416754 29416764 deletion of <=200bp TGTGTGTGTGG - intron_variant SKCA-BR 22 29420272 29420272 insertion of <=200bp - GTTTTTTT intron_variant SKCA-BR 22 29422908 29422908 single base substitution C T intron_variant SKCA-BR 22 29426075 29426075 single base substitution T G intron_variant SKCA-BR 22 29428146 29428146 single base substitution G A intron_variant SKCA-BR 22 29428147 29428147 single base substitution G A intron_variant SKCA-BR 22 29434955 29434955 single base substitution G T intron_variant SKCA-BR 22 29436856 29436856 single base substitution C T intron_variant SKCA-BR 22 29437801 29437801 single base substitution C T intron_variant SKCA-BR 22 29440281 29440281 single base substitution A G intron_variant SKCA-BR 22 29440794 29440794 single base substitution G A synonymous_variant G120G 360G>A SKCA-BR 22 29440794 29440794 single base substitution G A synonymous_variant G220G 660G>A SKCA-BR 22 29441350 29441351 deletion of <=200bp CA - intron_variant SKCA-BR 22 29442249 29442249 single base substitution G A intron_variant SKCA-BR 22 29445249 29445249 single base substitution G A synonymous_variant Q260Q 780G>A SKCA-BR 22 29445249 29445249 single base substitution G A synonymous_variant Q360Q 1080G>A SKCA-BR 22 29447910 29447910 single base substitution A C intron_variant SKCA-BR 22 29452631 29452631 single base substitution C T 3_prime_UTR_variant SKCA-BR 22 29452631 29452631 single base substitution C T downstream_gene_variant SKCA-BR 22 29453134 29453134 single base substitution C T 3_prime_UTR_variant SKCA-BR 22 29453134 29453134 single base substitution C T downstream_gene_variant SKCA-BR 22 29454000 29454000 single base substitution A G downstream_gene_variant SKCA-BR 22 29454913 29454913 single base substitution C T downstream_gene_variant SKCA-BR 22 29457478 29457478 single base substitution T C downstream_gene_variant SKCM-US 22 29383122 29383122 single base substitution G T missense_variant W120L 359G>T SKCM-US 22 29383122 29383122 single base substitution G T missense_variant W20L 59G>T SKCM-US 22 29383157 29383157 single base substitution G A missense_variant D132N 394G>A SKCM-US 22 29383157 29383157 single base substitution G A missense_variant D32N 94G>A SKCM-US 22 29440777 29440777 single base substitution G A missense_variant E115K 343G>A SKCM-US 22 29440777 29440777 single base substitution G A missense_variant E215K 643G>A SKCM-US 22 29444392 29444392 single base substitution C T missense_variant P210S 628C>T SKCM-US 22 29444392 29444392 single base substitution C T missense_variant P310S 928C>T SKCM-US 22 29444428 29444428 single base substitution C T missense_variant P222S 664C>T SKCM-US 22 29444428 29444428 single base substitution C T missense_variant P322S 964C>T SKCM-US 22 29445668 29445668 single base substitution C T missense_variant P400L 1199C>T SKCM-US 22 29445668 29445668 single base substitution C T missense_variant P500L 1499C>T SKCM-US 22 29445697 29445697 single base substitution C T missense_variant P410S 1228C>T SKCM-US 22 29445697 29445697 single base substitution C T missense_variant P510S 1528C>T SKCM-US 22 29445766 29445766 single base substitution C T missense_variant H433Y 1297C>T SKCM-US 22 29445766 29445766 single base substitution C T missense_variant H533Y 1597C>T SKCM-US 22 29445819 29445821 deletion of <=200bp CAG - inframe_deletion DS450D SKCM-US 22 29445819 29445821 deletion of <=200bp CAG - inframe_deletion DS550D SKCM-US 22 29445936 29445936 single base substitution C T synonymous_variant S489S 1467C>T SKCM-US 22 29445936 29445936 single base substitution C T synonymous_variant S589S 1767C>T SKCM-US 22 29446055 29446055 single base substitution C T missense_variant P529L 1586C>T SKCM-US 22 29446055 29446055 single base substitution C T missense_variant P629L 1886C>T SKCM-US 22 29446228 29446228 single base substitution C T missense_variant L587F 1759C>T SKCM-US 22 29446228 29446228 single base substitution C T missense_variant L687F 2059C>T SKCM-US 22 29446318 29446318 single base substitution C T stop_gained Q617* 1849C>T SKCM-US 22 29446318 29446318 single base substitution C T stop_gained Q717* 2149C>T SKCM-US 22 29446435 29446435 single base substitution C T stop_gained Q656* 1966C>T SKCM-US 22 29446435 29446435 single base substitution C T stop_gained Q756* 2266C>T SKCM-US 22 29446881 29446881 single base substitution C T synonymous_variant F804F 2412C>T SKCM-US 22 29446881 29446881 single base substitution C T synonymous_variant F904F 2712C>T SKCM-US 22 29446917 29446917 single base substitution C T synonymous_variant T816T 2448C>T SKCM-US 22 29446917 29446917 single base substitution C T synonymous_variant T916T 2748C>T SKCM-US 22 29454796 29454796 single base substitution C T downstream_gene_variant SKCM-US 22 29455002 29455002 single base substitution C T downstream_gene_variant SKCM-US 22 29456683 29456683 single base substitution A T downstream_gene_variant SKCM-US 22 29456719 29456719 single base substitution T C downstream_gene_variant STAD-US 22 29440829 29440829 single base substitution T C missense_variant V132A 395T>C STAD-US 22 29440829 29440829 single base substitution T C missense_variant V232A 695T>C STAD-US 22 29440867 29440867 single base substitution C T stop_gained R145* 433C>T STAD-US 22 29440867 29440867 single base substitution C T stop_gained R245* 733C>T STAD-US 22 29444383 29444383 single base substitution C T missense_variant R207W 619C>T STAD-US 22 29444383 29444383 single base substitution C T missense_variant R307W 919C>T STAD-US 22 29444421 29444421 single base substitution C T synonymous_variant C219C 657C>T STAD-US 22 29444421 29444421 single base substitution C T synonymous_variant C319C 957C>T STAD-US 22 29444461 29444461 single base substitution T C missense_variant C233R 697T>C STAD-US 22 29444461 29444461 single base substitution T C missense_variant C333R 997T>C STAD-US 22 29445281 29445281 single base substitution G A missense_variant R271H 812G>A STAD-US 22 29445281 29445281 single base substitution G A missense_variant R371H 1112G>A STAD-US 22 29445296 29445296 single base substitution A T missense_variant N276I 827A>T STAD-US 22 29445296 29445296 single base substitution A T missense_variant N376I 1127A>T STAD-US 22 29445399 29445399 single base substitution G A synonymous_variant P310P 930G>A STAD-US 22 29445399 29445399 single base substitution G A synonymous_variant P410P 1230G>A STAD-US 22 29445922 29445922 single base substitution A G missense_variant T485A 1453A>G STAD-US 22 29445922 29445922 single base substitution A G missense_variant T585A 1753A>G STAD-US 22 29445999 29445999 deletion of <=200bp G - frameshift_variant A510 STAD-US 22 29445999 29445999 deletion of <=200bp G - frameshift_variant A610 STAD-US 22 29446260 29446260 single base substitution C T synonymous_variant L597L 1791C>T STAD-US 22 29446260 29446260 single base substitution C T synonymous_variant L697L 2091C>T STAD-US 22 29446744 29446744 single base substitution C T stop_gained R759* 2275C>T STAD-US 22 29446744 29446744 single base substitution C T stop_gained R859* 2575C>T STAD-US 22 29456681 29456681 single base substitution T C downstream_gene_variant STAD-US 22 29456825 29456825 single base substitution T G downstream_gene_variant THCA-SA 22 29450923 29450923 single base substitution A G 3_prime_UTR_variant THCA-SA 22 29450923 29450923 single base substitution A G downstream_gene_variant THCA-SA 22 29451671 29451671 single base substitution A G 3_prime_UTR_variant THCA-SA 22 29451671 29451671 single base substitution A G downstream_gene_variant THCA-SA 22 29452278 29452278 single base substitution A G 3_prime_UTR_variant THCA-SA 22 29452278 29452278 single base substitution A G downstream_gene_variant THCA-SA 22 29453027 29453027 single base substitution A G 3_prime_UTR_variant THCA-SA 22 29453027 29453027 single base substitution A G downstream_gene_variant THCA-SA 22 29453193 29453193 single base substitution G C 3_prime_UTR_variant THCA-SA 22 29453193 29453193 single base substitution G C downstream_gene_variant THCA-US 22 29445437 29445437 single base substitution A G missense_variant H323R 968A>G THCA-US 22 29445437 29445437 single base substitution A G missense_variant H423R 1268A>G THCA-US 22 29446145 29446145 single base substitution C G missense_variant S559C 1676C>G THCA-US 22 29446145 29446145 single base substitution C G missense_variant S659C 1976C>G THCA-US 22 29456530 29456530 single base substitution G C downstream_gene_variant UCEC-US 22 29383065 29383065 single base substitution T C missense_variant M101T 302T>C UCEC-US 22 29383065 29383065 single base substitution T C start_lost M1T 2T>C UCEC-US 22 29383097 29383097 single base substitution G A missense_variant E112K 334G>A UCEC-US 22 29383097 29383097 single base substitution G A missense_variant E12K 34G>A UCEC-US 22 29439407 29439407 single base substitution C T missense_variant R108C 322C>T UCEC-US 22 29439407 29439407 single base substitution C T missense_variant R208C 622C>T UCEC-US 22 29440867 29440867 single base substitution C T stop_gained R145* 433C>T UCEC-US 22 29440867 29440867 single base substitution C T stop_gained R245* 733C>T UCEC-US 22 29444383 29444383 single base substitution C T missense_variant R207W 619C>T UCEC-US 22 29444383 29444383 single base substitution C T missense_variant R307W 919C>T UCEC-US 22 29445207 29445207 single base substitution G A synonymous_variant A246A 738G>A UCEC-US 22 29445207 29445207 single base substitution G A synonymous_variant A346A 1038G>A UCEC-US 22 29445283 29445283 single base substitution G A missense_variant V272M 814G>A UCEC-US 22 29445283 29445283 single base substitution G A missense_variant V372M 1114G>A UCEC-US 22 29445298 29445298 single base substitution G A missense_variant A277T 829G>A UCEC-US 22 29445298 29445298 single base substitution G A missense_variant A377T 1129G>A UCEC-US 22 29445387 29445387 single base substitution C T synonymous_variant S306S 918C>T UCEC-US 22 29445387 29445387 single base substitution C T synonymous_variant S406S 1218C>T UCEC-US 22 29445469 29445469 single base substitution G A missense_variant G334S 1000G>A UCEC-US 22 29445469 29445469 single base substitution G A missense_variant G434S 1300G>A UCEC-US 22 29445671 29445671 single base substitution C T missense_variant P401L 1202C>T UCEC-US 22 29445671 29445671 single base substitution C T missense_variant P501L 1502C>T UCEC-US 22 29446836 29446836 insertion of <=200bp - C frameshift_variant R789R? UCEC-US 22 29446836 29446836 insertion of <=200bp - C frameshift_variant R889R? UCEC-US 22 29454997 29454997 single base substitution C T downstream_gene_variant UCEC-US 22 29455015 29455015 single base substitution C A downstream_gene_variant UCEC-US 22 29456529 29456529 single base substitution C T downstream_gene_variant UCEC-US 22 29456550 29456550 single base substitution C A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BH-A0HF-01 COSM3842401 c.594G>C p.E198D Substitution - Missense 22:29046865-29046865 + CN-AML-08-T COSM5426160 c.2151G>A p.Q717Q Substitution - coding silent 22:29050332-29050332 + YUPTER COSM5393348 c.2061C>T p.L687L Substitution - coding silent 22:29050242-29050242 + MO_1232 COSM5566518 c.1516C>A p.R506S Substitution - Missense 22:29049997-29049997 + TCGA-CD-A4MI-01 COSM4103252 c.695T>C p.V232A Substitution - Missense 22:29044841-29044841 + RMS66_ COSM2936106 c.1898T>C p.L633S Substitution - Missense 22:29050379-29050379 + TCGA-CM-6171-01 COSM1033089 c.433C>T p.R145* Substitution - Nonsense 22:29044879-29044879 + TCGA-F4-6570-01 COSM5172127 c.408C>T p.C136C Substitution - coding silent 22:28987183-28987183 + PCSI_0096_Pa_P COSM216565 c.1873G>C p.A625P Substitution - Missense 22:29050354-29050354 + MO_1074 COSM5556066 c.2149G>A p.G717S Substitution - Missense 22:29050630-29050630 + TCGA-EE-A2MR-06 COSM3553071 c.1528C>T p.P510S Substitution - Missense 22:29049709-29049709 + PTC-14C COSM4156109 c.363A>G p.V121V Substitution - coding silent 22:28987138-28987138 + BCM723T COSM4956346 c.2367C>T p.R789R Substitution - coding silent 22:29050548-29050548 + TCGA-BS-A0UA-01 COSM1033096 c.1202C>T p.P401L Substitution - Missense 22:29049683-29049683 + TCGA-EE-A3J4-06 COSM3912551 c.94G>A p.D32N Substitution - Missense 22:28987169-28987169 + PTC-7C COSM4156111 c.1260A>C p.P420P Substitution - coding silent 22:29049441-29049441 + SNU-C2B COSM4615318 c.409_410insT p.V138fs*65 Insertion - Frameshift 22:29044855-29044856 + SJHGG034_D COSM4970672 c.1058G>A p.G353D Substitution - Missense 22:29049539-29049539 + TCGA-A6-6653-01 COSM1415457 c.538delG p.A181fs*58 Deletion - Frameshift 22:29046809-29046809 + TCGA-F5-6814-01 COSM3424095 c.1601G>A p.G534D Substitution - Missense 22:29049782-29049782 + 19M COSM5580070 c.1597C>T p.L533F Substitution - Missense 22:29050078-29050078 + NB07C COSM1236568 c.2464G>T p.A822S Substitution - Missense 22:29050945-29050945 + T2940 COSM4745322 c.1251G>A p.P417P Substitution - coding silent 22:29049732-29049732 + TCGA-CG-4449-01 COSM4103256 c.1112G>A p.R371H Substitution - Missense 22:29049293-29049293 + TCGA-CM-6171-01 COSM5829190 c.1474delC p.R493fs*77 Deletion - Frameshift 22:29049655-29049655 + 3844_T COSM3964175 c.1122G>T p.R374S Substitution - Missense 22:29049303-29049303 + 3844_T COSM3964174 c.821G>C p.R274T Substitution - Missense 22:29049302-29049302 + TCGA-BR-6706-01 COSM4103258 c.1127A>T p.N376I Substitution - Missense 22:29049308-29049308 + PTC-53C COSM4156108 c.237C>T p.T79T Substitution - coding silent 22:28884003-28884003 + HCT8 COSM4634758 c.2302A>G p.R768G Substitution - Missense 22:29050783-29050783 + T2940 COSM4745325 c.1830delG p.G612fs*54 Deletion - Frameshift 22:29050011-29050011 + T2940 COSM4745326 c.1530delG p.G512fs*54 Deletion - Frameshift 22:29050011-29050011 + TCGA-D3-A2JH-06 COSM3553078 c.1586C>T p.P529L Substitution - Missense 22:29050067-29050067 + TCGA-FR-A69P-06 COSM3553081 c.2266C>T p.Q756* Substitution - Nonsense 22:29050447-29050447 + T2944 COSM1033089 c.433C>T p.R145* Substitution - Nonsense 22:29044879-29044879 + RKO COSM4298259 c.1741G>T p.G581W Substitution - Missense 22:29049922-29049922 + BCM371T COSM4951697 c.2681C>G p.P894R Substitution - Missense 22:29050862-29050862 + T2269 COSM4745313 c.506A>G p.N169S Substitution - Missense 22:29043303-29043303 + 2293760 COSM4606949 c.1034C>T p.P345L Substitution - Missense 22:29049515-29049515 + ESO-721 COSM1271973 c.1260_1261CC>AG p.H420_L421>QV Complex - compound substitution 22:29049741-29049742 + TCGA-BR-8487-01 COSM4103260 c.1230G>A p.P410P Substitution - coding silent 22:29049411-29049411 + TCGA-EE-A2GR-06 COSM3553064 c.59G>T p.W20L Substitution - Missense 22:28987134-28987134 + TCGA-12-0821-01 COSM1033089 c.433C>T p.R145* Substitution - Nonsense 22:29044879-29044879 + TCGA-A6-5665-01 COSM1415458 c.739_740delGT p.V249fs*117 Deletion - Frameshift 22:29049220-29049221 + SW948 COSM2936085 c.1090C>T p.Q364* Substitution - Nonsense 22:29049571-29049571 + HCT116 COSM4612428 c.2105_2106insG p.H705fs*20 Insertion - Frameshift 22:29050286-29050287 + TCGA-CM-6162-01 COSM1415461 c.2275C>T p.R759* Substitution - Nonsense 22:29050756-29050756 + TP_2060 COSM5550439 c.1882G>C p.A628P Substitution - Missense 22:29050363-29050363 + BCM371T COSM4951698 c.2381C>G p.P794R Substitution - Missense 22:29050862-29050862 + TCGA-D8-A1JA-01 COSM3842402 c.1470C>G p.L490L Substitution - coding silent 22:29049651-29049651 + TCGA-AZ-4315-01 COSM1415456 c.521G>A p.R174H Substitution - Missense 22:29046792-29046792 + TCGA-D3-A5GO-06 COSM3553083 c.2748C>T p.T916T Substitution - coding silent 22:29050929-29050929 + YUPTER COSM5393349 c.1761C>T p.L587L Substitution - coding silent 22:29050242-29050242 + TCGA-DD-A39V-01 COSM4912481 c.146G>C p.R49P Substitution - Missense 22:29042514-29042514 + I2L-P24Ta-Tumor-Organoid COSM1415459 c.999C>T p.C333C Substitution - coding silent 22:29049480-29049480 + TCGA-D3-A2JF-06 COSM3553080 c.1849C>T p.Q617* Substitution - Nonsense 22:29050330-29050330 + TCGA-AP-A0LM-01 COSM1033086 c.2T>C p.M1T Substitution - Missense 22:28987077-28987077 + TCGA-GN-A266-06 COSM2936118 c.2412C>T p.F804F Substitution - coding silent 22:29050893-29050893 + CHC322T COSM217234 c.697T>A p.C233S Substitution - Missense 22:29048473-29048473 + RXF393 COSM1682180 c.1190G>C p.R397P Substitution - Missense 22:29049671-29049671 + SC_9081 COSM5555813 c.1534G>A p.G512S Substitution - Missense 22:29050015-29050015 + CLL138 COSM1291234 c.2161G>T p.G721W Substitution - Missense 22:29050642-29050642 + PTC-14C COSM4004882 c.362T>G p.V121G Substitution - Missense 22:28987137-28987137 + TCGA-CG-5721-01 COSM1033090 c.619C>T p.R207W Substitution - Missense 22:29048395-29048395 + TCGA-G4-6588-01 COSM5179060 c.563C>T p.A188V Substitution - Missense 22:29043360-29043360 + TCGA-F4-6570-01 COSM1415452 c.108C>T p.C36C Substitution - coding silent 22:28987183-28987183 + HCT116 COSM4612429 c.1805_1806insG p.H605fs*20 Insertion - Frameshift 22:29050286-29050287 + STC291 COSM4298249 c.1340G>A p.R447H Substitution - Missense 22:29049521-29049521 + TCGA-D8-A1JA-01 COSM3842403 c.1170C>G p.L390L Substitution - coding silent 22:29049651-29049651 + TCGA-BR-6452-01 COSM4103263 c.1453A>G p.T485A Substitution - Missense 22:29049934-29049934 + 345973 COSM3726746 c.1908G>C p.V636V Substitution - coding silent 22:29050089-29050089 + LUAD-NYU1051S COSM368820 c.2078G>T p.G693V Substitution - Missense 22:29050559-29050559 + ESCC_43 COSM5629868 c.2390C>T p.A797V Substitution - Missense 22:29050871-29050871 + MO_1074 COSM5556065 c.2449G>A p.G817S Substitution - Missense 22:29050630-29050630 + PTC-7C COSM4156112 c.960A>C p.P320P Substitution - coding silent 22:29049441-29049441 + SJHGG049_A COSM4970969 c.1229delC p.P410fs*42 Deletion - Frameshift 22:29049410-29049410 + CHC1725T COSM5348567 c.1811_1812insG p.H605fs*20 Insertion - Frameshift 22:29050292-29050293 + I2L-P24Tb-Tumor-Biopsy COSM1415459 c.999C>T p.C333C Substitution - coding silent 22:29049480-29049480 + CN-AML-08-T COSM5426161 c.1851G>A p.Q617Q Substitution - coding silent 22:29050332-29050332 + CHC1742T COSM4792278 c.633+2T>G p.? Unknown 22:29043432-29043432 + 1 COSM4333119 c.1839G>A p.S613S Substitution - coding silent 22:29050020-29050020 + TCGA-BQ-7060-01 COSM3992076 c.881T>C p.V294A Substitution - Missense 22:29049362-29049362 + 2293760 COSM4606948 c.1334C>T p.P445L Substitution - Missense 22:29049515-29049515 + TCGA-DW-7840-01 COSM3992077 c.1770C>G p.L590L Substitution - coding silent 22:29049951-29049951 + 587332 COSM1234780 c.1505G>A p.R502Q Substitution - Missense 22:29049986-29049986 + TCGA-BR-6706-01 COSM4103259 c.827A>T p.N276I Substitution - Missense 22:29049308-29049308 + sysucc-1370T COSM5469280 c.622C>T p.R208C Substitution - Missense 22:29043419-29043419 + ESCC_58 COSM5632589 c.1435G>A p.V479M Substitution - Missense 22:29049916-29049916 + GC_350T-GC_350N COSM4772066 c.2532G>A p.S844S Substitution - coding silent 22:29050713-29050713 + TCGA-24-1463-01 COSM81968 c.825C>G p.T275T Substitution - coding silent 22:29049306-29049306 + I2L-P24Ta-Tumor-Biopsy COSM1415459 c.999C>T p.C333C Substitution - coding silent 22:29049480-29049480 + T3262 COSM4745316 c.848C>T p.T283M Substitution - Missense 22:29049329-29049329 + D-13 COSM4766903 c.1946G>C p.G649A Substitution - Missense 22:29050127-29050127 + PTC-28C COSM3759104 c.2442A>C p.P814P Substitution - coding silent 22:29050623-29050623 + S01453 COSM316942 c.2404G>C p.A802P Substitution - Missense 22:29050885-29050885 + T2197 COSM4336915 c.1039_1040delGT p.V349fs*117 Deletion - Frameshift 22:29049220-29049221 + TCGA-DD-A4NO-01 COSM2936063 c.437G>A p.R146H Substitution - Missense 22:29044883-29044883 + TCGA-EE-A2A6-06 COSM3553075 c.1767C>T p.S589S Substitution - coding silent 22:29049948-29049948 + TCGA-GN-A266-06 COSM3912554 c.2712C>T p.F904F Substitution - coding silent 22:29050893-29050893 + TCGA-AY-6197-01 COSM1415459 c.999C>T p.C333C Substitution - coding silent 22:29049480-29049480 + HCC38 COSM1616325 c.859A>G p.M287V Substitution - Missense 22:29049340-29049340 + 423 COSM4432521 c.1277C>T p.T426M Substitution - Missense 22:29049758-29049758 + pfg217T COSM4751861 c.1675T>A p.S559T Substitution - Missense 22:29050156-29050156 + Pat_41_B COSM5859112 c.1250G>A p.R417H Substitution - Missense 22:29049431-29049431 + BCM371T COSM4951697 c.2681C>G p.P894R Substitution - Missense 22:29050862-29050862 + TCGA-CM-6171-01 COSM3405574 c.733C>T p.R245* Substitution - Nonsense 22:29044879-29044879 + SJTALL007 COSM306012 c.382G>A p.V128M Substitution - Missense 22:29044828-29044828 + B22-Tumor COSM4004882 c.362T>G p.V121G Substitution - Missense 22:28987137-28987137 + BCM723T COSM4956347 c.2067C>T p.R689R Substitution - coding silent 22:29050548-29050548 + 90 COSM5015719 c.1817A>T p.E606V Substitution - Missense 22:29050298-29050298 + 2293771 COSM4607246 c.958G>A p.V320M Substitution - Missense 22:29048434-29048434 + BCM265T COSM4949956 c.2341T>C p.C781R Substitution - Missense 22:29050822-29050822 + S01453 COSM316942 c.2404G>C p.A802P Substitution - Missense 22:29050885-29050885 + CN-AML-NR-08-Dx COSM5426160 c.2151G>A p.Q717Q Substitution - coding silent 22:29050332-29050332 + TCGA-AZ-4315-01 COSM1415455 c.323G>A p.R108H Substitution - Missense 22:29043420-29043420 + BD114T COSM5504735 c.131T>A p.L44Q Substitution - Missense 22:28883897-28883897 + TCGA-AZ-4315-01 COSM5829189 c.821G>A p.R274H Substitution - Missense 22:29046792-29046792 + SJHGG034_D COSM4970671 c.1358G>A p.G453D Substitution - Missense 22:29049539-29049539 + 587316 COSM1234778 c.444+2T>C p.? Unknown 22:29044892-29044892 + 49M COSM5594132 c.1669C>T p.Q557* Substitution - Nonsense 22:29050150-29050150 + CSCC-42-T COSM4466501 c.1138C>T p.P380S Substitution - Missense 22:29049619-29049619 + CN-AML-CR-22-Dx COSM3759105 c.2142A>C p.P714P Substitution - coding silent 22:29050623-29050623 + CHC322T COSM217234 c.697T>A p.C233S Substitution - Missense 22:29048473-29048473 + TCGA-AM-5820-01 COSM3693993 c.957C>T p.C319C Substitution - coding silent 22:29048433-29048433 + TCGA-EM-A22O-01 COSM3371886 c.968A>G p.H323R Substitution - Missense 22:29049449-29049449 + TCGA-HU-A4G8-01 COSM4103265 c.1791C>T p.L597L Substitution - coding silent 22:29050272-29050272 + I2L-P19Ta-Tumor-Organoid COSM5366416 c.1251C>A p.R417R Substitution - coding silent 22:29049432-29049432 + CHC1041T COSM217235 c.910G>T p.E304* Substitution - Nonsense 22:29049391-29049391 + 587316 COSM1234777 c.331C>T p.R111* Substitution - Nonsense 22:29043428-29043428 + TCGA-D1-A15X-01 COSM3356010 c.919C>T p.R307W Substitution - Missense 22:29048395-29048395 + CHC301T COSM3766701 c.2241T>G p.G747G Substitution - coding silent 22:29050422-29050422 + HCA7 COSM4630726 c.1873G>A p.A625T Substitution - Missense 22:29050354-29050354 + TCGA-EE-A2GR-06 COSM3553074 c.1297C>T p.H433Y Substitution - Missense 22:29049778-29049778 + T2932 COSM4336915 c.1039_1040delGT p.V349fs*117 Deletion - Frameshift 22:29049220-29049221 + TCGA-CD-A4MI-01 COSM4103253 c.395T>C p.V132A Substitution - Missense 22:29044841-29044841 + I2L-P24Tb-Tumor-Organoid COSM1415459 c.999C>T p.C333C Substitution - coding silent 22:29049480-29049480 + T3049 COSM4745328 c.1552C>G p.R518G Substitution - Missense 22:29050033-29050033 + T207 COSM4745317 c.1235delC p.A414fs*38 Deletion - Frameshift 22:29049416-29049416 + TP_2060 COSM5550438 c.2182G>C p.A728P Substitution - Missense 22:29050363-29050363 + ESCC_43 COSM5629867 c.2690C>T p.A897V Substitution - Missense 22:29050871-29050871 + TCGA-AM-5821-01 COSM3693995 c.681C>A p.H227Q Substitution - Missense 22:29048457-29048457 + TCGA-CK-4950-01 COSM3759105 c.2142A>C p.P714P Substitution - coding silent 22:29050623-29050623 + 587350 COSM1234781 c.1428C>G p.N476K Substitution - Missense 22:29049909-29049909 + TCGA-CG-4449-01 COSM4103257 c.812G>A p.R271H Substitution - Missense 22:29049293-29049293 + PCSI_0038_Pa_X COSM3759105 c.2142A>C p.P714P Substitution - coding silent 22:29050623-29050623 + Pat_41_B COSM5859113 c.950G>A p.R317H Substitution - Missense 22:29049431-29049431 + TCGA-A6-5665-01 COSM4336915 c.1039_1040delGT p.V349fs*117 Deletion - Frameshift 22:29049220-29049221 + TCGA-E2-A15C-01 COSM444834 c.1203G>A p.P401P Substitution - coding silent 22:29049684-29049684 + BCM265T COSM4949955 c.2641T>C p.C881R Substitution - Missense 22:29050822-29050822 + SC_9081 COSM5555812 c.1834G>A p.G612S Substitution - Missense 22:29050015-29050015 + 544 COSM5612580 c.1037C>T p.A346V Substitution - Missense 22:29049218-29049218 + CHC1746T COSM4788003 c.2379T>C p.P793P Substitution - coding silent 22:29050860-29050860 + T2940 COSM4745321 c.1551G>A p.P517P Substitution - coding silent 22:29049732-29049732 + CHC1746T COSM4788003 c.2379T>C p.P793P Substitution - coding silent 22:29050860-29050860 + CHC1742T COSM4792279 c.333+2T>G p.? Unknown 22:29043432-29043432 + I2L-P19Ta-Tumor-Biopsy COSM5366417 c.951C>A p.R317R Substitution - coding silent 22:29049432-29049432 + RMS110_ COSM4987297 c.2734C>A p.Q912K Substitution - Missense 22:29050915-29050915 + I2L-P19Tb-Tumor-Organoid COSM1415453 c.236C>T p.P79L Substitution - Missense 22:29043333-29043333 + I2L-P24Tb-Tumor-Organoid COSM5366520 c.1299C>T p.C433C Substitution - coding silent 22:29049480-29049480 + RK308_C01 COSM3740386 c.828G>T p.E276D Substitution - Missense 22:29046799-29046799 + 587238 COSM1180931 c.1529_1530insG p.S513fs*68 Insertion - Frameshift 22:29050010-29050011 + CHC301T COSM3766702 c.1941T>G p.G647G Substitution - coding silent 22:29050422-29050422 + TCGA-BS-A0UA-01 COSM3356010 c.919C>T p.R307W Substitution - Missense 22:29048395-29048395 + T3246 COSM4745324 c.1350_1352delCAG p.S457delS Deletion - In frame 22:29049831-29049833 + TCGA-FW-A3R5-06 COSM3912553 c.1759C>T p.L587F Substitution - Missense 22:29050240-29050240 + TCGA-IR-A3LI-01 COSM4845937 c.1803G>A p.W601* Substitution - Nonsense 22:29050284-29050284 + I2L-P19Tb-Tumor-Biopsy COSM1415453 c.236C>T p.P79L Substitution - Missense 22:29043333-29043333 + HCC38 COSM3708192 c.1159A>G p.M387V Substitution - Missense 22:29049340-29049340 + NYU939 COSM4771043 c.922G>C p.V308L Substitution - Missense 22:29048398-29048398 + 2250207 COSM5029928 c.2628G>A p.E876E Substitution - coding silent 22:29050809-29050809 + TCGA-AM-5820-01 COSM316941 c.657C>T p.C219C Substitution - coding silent 22:29048433-29048433 + LUAD-RT-S01818 COSM384021 c.2504G>A p.G835E Substitution - Missense 22:29053615-29053615 + TCGA-BS-A0UA-01 COSM1033090 c.619C>T p.R207W Substitution - Missense 22:29048395-29048395 + BCM265T COSM4949956 c.2341T>C p.C781R Substitution - Missense 22:29050822-29050822 + TCGA-G2-A2ES-01 COSM1308034 c.775C>G p.Q259E Substitution - Missense 22:29049256-29049256 + RKO COSM1415458 c.739_740delGT p.V249fs*117 Deletion - Frameshift 22:29049220-29049221 + CHC1742T COSM4792279 c.333+2T>G p.? Unknown 22:29043432-29043432 + SJTALL007 COSM4298226 c.682G>A p.V228M Substitution - Missense 22:29044828-29044828 + CSCC-49-T COSM2936101 c.1658C>T p.P553L Substitution - Missense 22:29050139-29050139 + CHC301T COSM3766701 c.2241T>G p.G747G Substitution - coding silent 22:29050422-29050422 + TCGA-CK-4950-01 COSM3759104 c.2442A>C p.P814P Substitution - coding silent 22:29050623-29050623 + T2944 COSM4745329 c.2252A>G p.Q751R Substitution - Missense 22:29050433-29050433 + TCGA-BR-6852-01 COSM4103254 c.997T>C p.C333R Substitution - Missense 22:29048473-29048473 + TCGA-66-2777-01 COSM726020 c.543C>T p.A181A Substitution - coding silent 22:29046814-29046814 + ccRCC-51 COSM1659436 c.1851G>T p.Q617H Substitution - Missense 22:29050332-29050332 + BD87T COSM4156108 c.237C>T p.T79T Substitution - coding silent 22:28884003-28884003 + T3024 COSM3405574 c.733C>T p.R245* Substitution - Nonsense 22:29044879-29044879 + BD236T COSM2936081 c.1040G>A p.R347H Substitution - Missense 22:29049521-29049521 + GC_350T-GC_350N COSM4772067 c.2232G>A p.S744S Substitution - coding silent 22:29050713-29050713 + C058 COSM5525906 c.2677C>T p.P893S Substitution - Missense 22:29050858-29050858 + TCGA-D3-A2JH-06 COSM3553077 c.1886C>T p.P629L Substitution - Missense 22:29050067-29050067 + TCGA-AP-A0LH-01 COSM1033097 c.2367_2368insC p.G791fs*16 Insertion - Frameshift 22:29050848-29050849 + P05-2212 COSM242686 c.1596G>T p.E532D Substitution - Missense 22:29050077-29050077 + Au4 COSM5605496 c.572C>T p.S191F Substitution - Missense 22:29046843-29046843 + Au4 COSM5605497 c.1371C>T p.S457S Substitution - coding silent 22:29049552-29049552 + TCGA-AD-6889-01 COSM5129663 c.536C>T p.P179L Substitution - Missense 22:29043333-29043333 + TCGA-IR-A3LI-01 COSM4845936 c.2103G>A p.W701* Substitution - Nonsense 22:29050284-29050284 + 53M COSM5595643 c.1082G>A p.R361K Substitution - Missense 22:29049263-29049263 + CHC1746T COSM4788002 c.2679T>C p.P893P Substitution - coding silent 22:29050860-29050860 + TCGA-22-5491-01 COSM726018 c.1170C>T p.L390L Substitution - coding silent 22:29049651-29049651 + NYU939 COSM4771044 c.622G>C p.V208L Substitution - Missense 22:29048398-29048398 + TCGA-EE-A2MR-06 COSM3553072 c.1228C>T p.P410S Substitution - Missense 22:29049709-29049709 + 53M COSM5595644 c.782G>A p.R261K Substitution - Missense 22:29049263-29049263 + TCGA-DA-A1HV-06 COSM3553065 c.928C>T p.P310S Substitution - Missense 22:29048404-29048404 + 1 COSM4333120 c.1539G>A p.S513S Substitution - coding silent 22:29050020-29050020 + TCGA-B6-A0WX-01 COSM5214237 c.1066C>T p.R356C Substitution - Missense 22:29049247-29049247 + TCGA-BR-4362-01 COSM3405574 c.733C>T p.R245* Substitution - Nonsense 22:29044879-29044879 + I2L-P24Tb-Tumor-Biopsy COSM5366520 c.1299C>T p.C433C Substitution - coding silent 22:29049480-29049480 + CN-AML-CR-22-Dx COSM3759104 c.2442A>C p.P814P Substitution - coding silent 22:29050623-29050623 + TCGA-DD-A39V-01 COSM4912480 c.446G>C p.R149P Substitution - Missense 22:29042514-29042514 + TCGA-AY-6197-01 COSM5366520 c.1299C>T p.C433C Substitution - coding silent 22:29049480-29049480 + SNU-175 COSM306012 c.382G>A p.V128M Substitution - Missense 22:29044828-29044828 + HCC066T COSM5821302 c.1749A>T p.S583S Substitution - coding silent 22:29050230-29050230 + TCGA-D8-A1JA-01 COSM3842398 c.810G>C p.K270N Substitution - Missense 22:29046781-29046781 + RMS66_ COSM4298287 c.2618C>G p.T873S Substitution - Missense 22:29050799-29050799 + Detroit_562 COSM4594993 c.206G>A p.S69N Substitution - Missense 22:28883972-28883972 + 587234 COSM1234776 c.304C>T p.R102* Substitution - Nonsense 22:29043401-29043401 + PTC-28C COSM3759105 c.2142A>C p.P714P Substitution - coding silent 22:29050623-29050623 + T2932 COSM1415458 c.739_740delGT p.V249fs*117 Deletion - Frameshift 22:29049220-29049221 + T2197 COSM4745317 c.1235delC p.A414fs*38 Deletion - Frameshift 22:29049416-29049416 + TCGA-BT-A2LA-01 COSM1308035 c.1310C>T p.S437L Substitution - Missense 22:29049791-29049791 + T3049 COSM4745327 c.1852C>G p.R618G Substitution - Missense 22:29050033-29050033 + HN_62741 COSM126521 c.1630G>T p.G544C Substitution - Missense 22:29050111-29050111 + TCGA-BR-8372-01 COSM3693993 c.957C>T p.C319C Substitution - coding silent 22:29048433-29048433 + 49M COSM5594129 c.2531C>T p.S844L Substitution - Missense 22:29050712-29050712 + sysucc-1370T COSM1033088 c.322C>T p.R108C Substitution - Missense 22:29043419-29043419 + TCGA-D8-A1JA-01 COSM3842399 c.510G>C p.K170N Substitution - Missense 22:29046781-29046781 + TCGA-DD-A4NO-01 COSM4298228 c.737G>A p.R246H Substitution - Missense 22:29044883-29044883 + STC291 COSM2936081 c.1040G>A p.R347H Substitution - Missense 22:29049521-29049521 + 587338 COSM1234779 c.2227C>T p.P743S Substitution - Missense 22:29050708-29050708 + RK298_C01 COSM3701728 c.2691G>T p.A897A Substitution - coding silent 22:29050872-29050872 + S00936 COSM316941 c.657C>T p.C219C Substitution - coding silent 22:29048433-29048433 + TCGA-EE-A2GR-06 COSM3553073 c.1597C>T p.H533Y Substitution - Missense 22:29049778-29049778 + TCGA-EE-A3JD-06 COSM4395120 c.643G>A p.E215K Substitution - Missense 22:29044789-29044789 + TCGA-G4-6588-01 COSM1415454 c.263C>T p.A88V Substitution - Missense 22:29043360-29043360 + T2944 COSM3405574 c.733C>T p.R245* Substitution - Nonsense 22:29044879-29044879 + SJTALL007 COSM306012 c.382G>A p.V128M Substitution - Missense 22:29044828-29044828 + LUAD-CHTN-MAD06-00668 COSM359751 c.786G>T p.V262V Substitution - coding silent 22:29049267-29049267 + BCM371T COSM4951698 c.2381C>G p.P794R Substitution - Missense 22:29050862-29050862 + TCGA-22-5491-01 COSM726017 c.1748C>T p.S583L Substitution - Missense 22:29050229-29050229 + MO_1232 COSM5566517 c.1816C>A p.R606S Substitution - Missense 22:29049997-29049997 + TCGA-EE-A2A6-06 COSM3553076 c.1467C>T p.S489S Substitution - coding silent 22:29049948-29049948 + TCGA-CZ-5470-01 COSM478846 c.378C>G p.F126L Substitution - Missense 22:29044824-29044824 + TCGA-FW-A3R5-06 COSM3912552 c.2059C>T p.L687F Substitution - Missense 22:29050240-29050240 + 2250207 COSM5029929 c.2328G>A p.E776E Substitution - coding silent 22:29050809-29050809 + I2L-P19Tb-Tumor-Organoid COSM5129663 c.536C>T p.P179L Substitution - Missense 22:29043333-29043333 + 2293771 COSM4607247 c.658G>A p.V220M Substitution - Missense 22:29048434-29048434 + T3024 COSM1033089 c.433C>T p.R145* Substitution - Nonsense 22:29044879-29044879 + TCGA-BR-8487-01 COSM4103261 c.930G>A p.P310P Substitution - coding silent 22:29049411-29049411 + CHC322T COSM217234 c.697T>A p.C233S Substitution - Missense 22:29048473-29048473 + 46M COSM5589472 c.2561C>T p.S854F Substitution - Missense 22:29050742-29050742 + TCGA-BS-A0U5-01 COSM1033090 c.619C>T p.R207W Substitution - Missense 22:29048395-29048395 + LUAD-RT-S01810 COSM382875 c.587G>C p.C196S Substitution - Missense 22:29046858-29046858 + TCGA-AM-5821-01 COSM3693994 c.981C>A p.H327Q Substitution - Missense 22:29048457-29048457 + CHC1041T COSM217235 c.910G>T p.E304* Substitution - Nonsense 22:29049391-29049391 + TCGA-EE-A2GR-06 COSM3553063 c.359G>T p.W120L Substitution - Missense 22:28987134-28987134 + RKO COSM4336915 c.1039_1040delGT p.V349fs*117 Deletion - Frameshift 22:29049220-29049221 + 345973 COSM2936098 c.1608G>C p.V536V Substitution - coding silent 22:29050089-29050089 + PTC-88C COSM4156108 c.237C>T p.T79T Substitution - coding silent 22:28884003-28884003 + TCGA-A2-A0T5-01 COSM3842396 c.539T>G p.V180G Substitution - Missense 22:29043336-29043336 + TCGA-EE-A2MT-06 COSM3553069 c.1499C>T p.P500L Substitution - Missense 22:29049680-29049680 + TCGA-AD-6889-01 COSM1415453 c.236C>T p.P79L Substitution - Missense 22:29043333-29043333 + 423 COSM4432520 c.1577C>T p.T526M Substitution - Missense 22:29049758-29049758 + CHC322T COSM5348876 c.997T>A p.C333S Substitution - Missense 22:29048473-29048473 + PT37 COSM5921890 c.1123C>T p.Q375* Substitution - Nonsense 22:29049604-29049604 + RKO COSM478848 c.1441G>T p.G481W Substitution - Missense 22:29049922-29049922 + 3844_T COSM3964176 c.822G>T p.R274S Substitution - Missense 22:29049303-29049303 + 2293782 COSM4608949 c.517G>T p.E173* Substitution - Nonsense 22:29043314-29043314 + TCGA-EE-A3JD-06 COSM4395121 c.343G>A p.E115K Substitution - Missense 22:29044789-29044789 + T2269 COSM4745314 c.206A>G p.N69S Substitution - Missense 22:29043303-29043303 + C058 COSM5525909 c.2376C>T p.C792C Substitution - coding silent 22:29050857-29050857 + CSCC-42-T COSM4466500 c.1438C>T p.P480S Substitution - Missense 22:29049619-29049619 + T3091 COSM4745319 c.1437delC p.P480fs*90 Deletion - Frameshift 22:29049618-29049618 + PTC-7C COSM4156114 c.1037T>G p.F346C Substitution - Missense 22:29049518-29049518 + BD236T COSM4298249 c.1340G>A p.R447H Substitution - Missense 22:29049521-29049521 + HN_62646 COSM126520 c.382G>T p.V128L Substitution - Missense 22:29044828-29044828 + TCGA-AP-A0LG-01 COSM1033093 c.829G>A p.A277T Substitution - Missense 22:29049310-29049310 + TCGA-MK-A4N7-01 COSM3371887 c.1976C>G p.S659C Substitution - Missense 22:29050157-29050157 + TCGA-E2-A15C-01 COSM5228220 c.1503G>A p.P501P Substitution - coding silent 22:29049684-29049684 + TCGA-D1-A15X-01 COSM1033090 c.619C>T p.R207W Substitution - Missense 22:29048395-29048395 + C058 COSM5525908 c.2676C>T p.C892C Substitution - coding silent 22:29050857-29050857 + LIM2405 COSM4642609 c.1153A>G p.T385A Substitution - Missense 22:29049334-29049334 + TCGA-D1-A16X-01 COSM1033091 c.738G>A p.A246A Substitution - coding silent 22:29049219-29049219 + Au4 COSM5605498 c.1071C>T p.S357S Substitution - coding silent 22:29049552-29049552 + 2293782 COSM4608950 c.217G>T p.E73* Substitution - Nonsense 22:29043314-29043314 + TCGA-CG-5721-01 COSM3356010 c.919C>T p.R307W Substitution - Missense 22:29048395-29048395 + HCC066T COSM5821301 c.2049A>T p.S683S Substitution - coding silent 22:29050230-29050230 + T3246 COSM4745323 c.1650_1652delCAG p.S557delS Deletion - In frame 22:29049831-29049833 + TCGA-25-2042-01 COSM116001 c.2414C>A p.P805H Substitution - Missense 22:29050895-29050895 + RMS110_ COSM4987298 c.2434C>A p.Q812K Substitution - Missense 22:29050915-29050915 + T3090 COSM4745332 c.2142delA p.P715fs*11 Deletion - Frameshift 22:29050623-29050623 + pfg217T COSM4751860 c.1975T>A p.S659T Substitution - Missense 22:29050156-29050156 + T1154 COSM4745318 c.935delC p.A314fs*38 Deletion - Frameshift 22:29049416-29049416 + PT37 COSM5921889 c.1423C>T p.Q475* Substitution - Nonsense 22:29049604-29049604 + TCGA-AP-A0LM-01 COSM1033092 c.814G>A p.V272M Substitution - Missense 22:29049295-29049295 + HCT8 COSM4634757 c.2602A>G p.R868G Substitution - Missense 22:29050783-29050783 + TCGA-12-0821-01 COSM3405574 c.733C>T p.R245* Substitution - Nonsense 22:29044879-29044879 + RMS66_ COSM2936116 c.2318C>G p.T773S Substitution - Missense 22:29050799-29050799 + T207 COSM4745318 c.935delC p.A314fs*38 Deletion - Frameshift 22:29049416-29049416 + cSCCP7 COSM140299 c.1769C>T p.S590F Substitution - Missense 22:29050250-29050250 + SNU-C2B COSM3356010 c.919C>T p.R307W Substitution - Missense 22:29048395-29048395 + T3262 COSM4745315 c.1148C>T p.T383M Substitution - Missense 22:29049329-29049329 + TCGA-BR-8372-01 COSM316941 c.657C>T p.C219C Substitution - coding silent 22:29048433-29048433 + RK308_C01 COSM3740387 c.528G>T p.E176D Substitution - Missense 22:29046799-29046799 + T2197 COSM4745318 c.935delC p.A314fs*38 Deletion - Frameshift 22:29049416-29049416 + TCGA-BQ-7060-01 COSM3992075 c.1181T>C p.V394A Substitution - Missense 22:29049362-29049362 + CSCC-49-T COSM4298268 c.1958C>T p.P653L Substitution - Missense 22:29050139-29050139 + BCM723T COSM4956347 c.2067C>T p.R689R Substitution - coding silent 22:29050548-29050548 + S01453 COSM5668545 c.2704G>C p.A902P Substitution - Missense 22:29050885-29050885 + PTC-14C COSM4004883 c.62T>G p.V21G Substitution - Missense 22:28987137-28987137 + LUAD-F00282 COSM367319 c.2348A>T p.Q783L Substitution - Missense 22:29050829-29050829 + 3844_T COSM3964173 c.1121G>C p.R374T Substitution - Missense 22:29049302-29049302 + CHC301T COSM3766702 c.1941T>G p.G647G Substitution - coding silent 22:29050422-29050422 + SNU-C2B COSM4615317 c.709_710insT p.V238fs*65 Insertion - Frameshift 22:29044855-29044856 + 544 COSM5612581 c.737C>T p.A246V Substitution - Missense 22:29049218-29049218 + CHC1041T COSM217235 c.910G>T p.E304* Substitution - Nonsense 22:29049391-29049391 + CN-AML-CR-36-Dx COSM5427527 c.2260T>C p.S754P Substitution - Missense 22:29050741-29050741 + TCGA-BH-A0HF-01 COSM3842400 c.894G>C p.E298D Substitution - Missense 22:29046865-29046865 + TCGA-A6-6653-01 COSM5091895 c.838delG p.A281fs*58 Deletion - Frameshift 22:29046809-29046809 + I2L-P24Ta-Tumor-Organoid COSM5366520 c.1299C>T p.C433C Substitution - coding silent 22:29049480-29049480 + LIM2405 COSM4642610 c.853A>G p.T285A Substitution - Missense 22:29049334-29049334 + 2 COSM4172280 c.62_63delTA p.V21fs*36 Deletion - Frameshift 22:28987137-28987138 + TCGA-A2-A0T5-01 COSM3842397 c.239T>G p.V80G Substitution - Missense 22:29043336-29043336 + I2L-P24Ta-Tumor-Biopsy COSM5366520 c.1299C>T p.C433C Substitution - coding silent 22:29049480-29049480 + TCGA-BR-6452-01 COSM4103262 c.1753A>G p.T585A Substitution - Missense 22:29049934-29049934 + 19M COSM5580069 c.1897C>T p.L633F Substitution - Missense 22:29050078-29050078 + PTC-7C COSM4156113 c.1337T>G p.F446C Substitution - Missense 22:29049518-29049518 + T3091 COSM4745320 c.1137delC p.P380fs*90 Deletion - Frameshift 22:29049618-29049618 + C058 COSM5525907 c.2377C>T p.P793S Substitution - Missense 22:29050858-29050858 + CN-AML-NR-08-Dx COSM5426161 c.1851G>A p.Q617Q Substitution - coding silent 22:29050332-29050332 + MO_1232 COSM5551300 c.1815T>C p.C605C Substitution - coding silent 22:29049996-29049996 + T1154 COSM4745317 c.1235delC p.A414fs*38 Deletion - Frameshift 22:29049416-29049416 + I2L-P19Ta-Tumor-Organoid COSM5366417 c.951C>A p.R317R Substitution - coding silent 22:29049432-29049432 + TCGA-AP-A056-01 COSM1033087 c.34G>A p.E12K Substitution - Missense 22:28987109-28987109 + I2L-P19Ta-Tumor-Biopsy COSM5366416 c.1251C>A p.R417R Substitution - coding silent 22:29049432-29049432 + CHC1725T COSM5348566 c.2111_2112insG p.H705fs*20 Insertion - Frameshift 22:29050292-29050293 + Au4 COSM5605495 c.872C>T p.S291F Substitution - Missense 22:29046843-29046843 + 46M COSM5589473 c.2261C>T p.S754F Substitution - Missense 22:29050742-29050742 + CHC1534T COSM5348834 c.902_903ins96 p.R301_H302insQPPK* Insertion - In frame 22:29049383-29049384 + TCGA-MK-A4N7-01 COSM3371888 c.1676C>G p.S559C Substitution - Missense 22:29050157-29050157 + TCGA-EM-A22O-01 COSM3371885 c.1268A>G p.H423R Substitution - Missense 22:29049449-29049449 + ESO-717 COSM1243051 c.1583C>T p.P528L Substitution - Missense 22:29050064-29050064 + CHC1041T COSM5348924 c.1210G>T p.E404* Substitution - Nonsense 22:29049391-29049391 + TCGA-AP-A051-01 COSM1033094 c.918C>T p.S306S Substitution - coding silent 22:29049399-29049399 + 49M COSM5594130 c.2231C>T p.S744L Substitution - Missense 22:29050712-29050712 + D-13 COSM4766904 c.1646G>C p.G549A Substitution - Missense 22:29050127-29050127 + TCGA-DW-7840-01 COSM3992078 c.1470C>G p.L490L Substitution - coding silent 22:29049951-29049951 + T3090 COSM4745331 c.2442delA p.P815fs*11 Deletion - Frameshift 22:29050623-29050623 + TCGA-EE-A2MT-06 COSM3553070 c.1199C>T p.P400L Substitution - Missense 22:29049680-29049680 + SNU-175 COSM4298226 c.682G>A p.V228M Substitution - Missense 22:29044828-29044828 + ESCC_58 COSM5632588 c.1735G>A p.V579M Substitution - Missense 22:29049916-29049916 + PCSI_0038_Pa_X COSM3759104 c.2442A>C p.P814P Substitution - coding silent 22:29050623-29050623 + TCGA-A8-A09Z-01 COSM3842404 c.2332C>T p.P778S Substitution - Missense 22:29050513-29050513 + T2944 COSM4745330 c.1952A>G p.Q651R Substitution - Missense 22:29050433-29050433 + 49M COSM5594131 c.1969C>T p.Q657* Substitution - Nonsense 22:29050150-29050150 + HCA7 COSM4630725 c.2173G>A p.A725T Substitution - Missense 22:29050354-29050354 + TCGA-F5-6814-01 COSM3424096 c.1301G>A p.G434D Substitution - Missense 22:29049782-29049782 + SNU-C2B COSM1033090 c.619C>T p.R207W Substitution - Missense 22:29048395-29048395 + TCGA-EE-A3J4-06 COSM3912550 c.394G>A p.D132N Substitution - Missense 22:28987169-28987169 + TCGA-DA-A1HV-06 COSM3553066 c.628C>T p.P210S Substitution - Missense 22:29048404-29048404 + SJHGG049_A COSM4970970 c.929delC p.P310fs*42 Deletion - Frameshift 22:29049410-29049410 + T2197 COSM1415458 c.739_740delGT p.V249fs*117 Deletion - Frameshift 22:29049220-29049221 + SW948 COSM4298252 c.1390C>T p.Q464* Substitution - Nonsense 22:29049571-29049571 + I2L-P19Tb-Tumor-Biopsy COSM5129663 c.536C>T p.P179L Substitution - Missense 22:29043333-29043333 + TCGA-AZ-4315-01 COSM5829188 c.623G>A p.R208H Substitution - Missense 22:29043420-29043420 + TCGA-EE-A3AA-06 COSM3553067 c.964C>T p.P322S Substitution - Missense 22:29048440-29048440 + TCGA-CG-4465-01 COSM4103266 c.2575C>T p.R859* Substitution - Nonsense 22:29050756-29050756 + RMS66_ COSM4298273 c.2198T>C p.L733S Substitution - Missense 22:29050379-29050379 + TCGA-FR-A69P-06 COSM3553082 c.1966C>T p.Q656* Substitution - Nonsense 22:29050447-29050447 + 2 COSM4172279 c.362_363delTA p.V121fs*36 Deletion - Frameshift 22:28987137-28987138 + TCGA-EE-A3AA-06 COSM3553068 c.664C>T p.P222S Substitution - Missense 22:29048440-29048440 + TCGA-A8-A09Z-01 COSM3842405 c.2032C>T p.P678S Substitution - Missense 22:29050513-29050513 + TCGA-B5-A11N-01 COSM1033088 c.322C>T p.R108C Substitution - Missense 22:29043419-29043419 + 90 COSM5015718 c.2117A>T p.E706V Substitution - Missense 22:29050298-29050298 + WA7 COSM242443 c.689G>A p.C230Y Substitution - Missense 22:29048465-29048465 + TCGA-BR-4362-01 COSM1033089 c.433C>T p.R145* Substitution - Nonsense 22:29044879-29044879 + TCGA-D3-A2JF-06 COSM3553079 c.2149C>T p.Q717* Substitution - Nonsense 22:29050330-29050330 + B22-Tumor COSM4004883 c.62T>G p.V21G Substitution - Missense 22:28987137-28987137 + CHC1742T COSM4792278 c.633+2T>G p.? Unknown 22:29043432-29043432 + TCGA-AP-A051-01 COSM1033089 c.433C>T p.R145* Substitution - Nonsense 22:29044879-29044879 + CHC1534T COSM5348833 c.1202_1203ins96 p.R401_H402insQPPK* Insertion - In frame 22:29049383-29049384 + MO_1232 COSM5551301 c.1515T>C p.C505C Substitution - coding silent 22:29049996-29049996 + LUAD-D01603 COSM337714 c.1013G>T p.R338L Substitution - Missense 22:29049494-29049494 + CHC1746T COSM4788002 c.2679T>C p.P893P Substitution - coding silent 22:29050860-29050860 + TCGA-CM-6171-01 COSM1415460 c.1174delC p.R393fs*77 Deletion - Frameshift 22:29049655-29049655 + RK298_C01 COSM3701729 c.2391G>T p.A797A Substitution - coding silent 22:29050872-29050872 + BCM723T COSM4956346 c.2367C>T p.R789R Substitution - coding silent 22:29050548-29050548 + TCGA-HU-A4G8-01 COSM4103264 c.2091C>T p.L697L Substitution - coding silent 22:29050272-29050272 + TCGA-D3-A5GO-06 COSM3553084 c.2448C>T p.T816T Substitution - coding silent 22:29050929-29050929 + TCGA-CG-4465-01 COSM1415461 c.2275C>T p.R759* Substitution - Nonsense 22:29050756-29050756 + ESO-184 COSM1271972 c.2090G>C p.C697S Substitution - Missense 22:29050571-29050571 + PTC-14C COSM4156110 c.63A>G p.V21V Substitution - coding silent 22:28987138-28987138 + TCGA-BR-6852-01 COSM4103255 c.697T>C p.C233R Substitution - Missense 22:29048473-29048473 + HCC38T COSM1616325 c.859A>G p.M287V Substitution - Missense 22:29049340-29049340 + ESO-159 COSM1271971 c.2144C>T p.P715L Substitution - Missense 22:29050625-29050625 + TCGA-CM-6162-01 COSM4103266 c.2575C>T p.R859* Substitution - Nonsense 22:29050756-29050756 + TCGA-B6-A0WX-01 COSM444833 c.766C>T p.R256C Substitution - Missense 22:29049247-29049247 + 587228 COSM1234776 c.304C>T p.R102* Substitution - Nonsense 22:29043401-29043401 + TCGA-18-3409-01 COSM726019 c.949C>T p.R317C Substitution - Missense 22:29049430-29049430 + BCM265T COSM4949955 c.2641T>C p.C881R Substitution - Missense 22:29050822-29050822 + GB23 COSM1744842 c.1297C>A p.H433N Substitution - Missense 22:29049778-29049778 + CN-AML-CR-36-Dx COSM5427526 c.2560T>C p.S854P Substitution - Missense 22:29050741-29050741 + TCGA-D1-A17Q-01 COSM1033095 c.1000G>A p.G334S Substitution - Missense 22:29049481-29049481 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.655241;Hs.655242 22q12.1 612062 Hs.732114 22q12.1 612062

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.300+35675A>G 22 29315729 CLL A G IntronicSNV . c.301-1267A>G 22 29381797 CLL A G Missense p.H423R c.1268A>G 22 29445437 THCA A G Missense p.S352G c.1054A>G 22 29445223 LUAD A T Missense p.N376I c.1127A>T 22 29445296 STAD CAG - InFrameDeletion p.S557delS c.1666_1668delAGC 22 29445819 CM C A Missense p.A255D c.764C>A 22 29442723 HNSC C A Missense p.P905H c.2714C>A 22 29446883 OV CC AG MultiAAMissense p.H520_L521delinsQV c.1560_1561delinsAG 22 29445729 ESCA CC TT Missense p.S441F c.1322_1323delinsTT 22 29445491 CM - C Frameshift p.G891Wfs*16 c.2669dupC 22 29446837 UCEC C G Missense p.Q359E c.1075C>G 22 29445244 BLCA C G Missense p.S627C c.1880C>G 22 29446049 HNSC C G Synonymous p.T375T c.1125C>G 22 29445294 OV C T Missense p.H533Y c.1597C>T 22 29445766 CM C T Missense p.P310S c.928C>T 22 29444392 CM C T Missense p.P322S c.964C>T 22 29444428 CM C T Missense p.P500L c.1499C>T 22 29445668 CM C T Missense p.P501L c.1502C>T 22 29445671 UCEC C T Missense p.P629L c.1886C>T 22 29446055 CM C T Missense p.R208C c.622C>T 22 29439407 LUAD C T Missense p.R307W c.919C>T 22 29444383 UCEC C T Missense p.R356C c.1066C>T 22 29445235 BRCA C T Missense p.S537L c.1610C>T 22 29445779 BLCA C T Missense p.S683L c.2048C>T 22 29446217 LUSC C T Nonsense p.Q717* c.2149C>T 22 29446318 CM C T Nonsense p.R245* c.733C>T 22 29440867 GBM C T Nonsense p.R859* c.2575C>T 22 29446744 STAD C T Synonymous p.A281A c.843C>T 22 29442802 LUSC C T Synonymous p.C319C c.957C>T 22 29444421 SCLC C T Synonymous p.I309I c.927C>T 22 29444391 CM C T Synonymous p.L490L c.1470C>T 22 29445639 LUSC C T Synonymous p.S589S c.1767C>T 22 29445936 CM G A Missense p.A377T c.1129G>A 22 29445298 UCEC G A Missense p.D132N c.394G>A 22 29383157 CM G A Missense p.E215K c.643G>A 22 29440777 CM G A Missense p.R314Q c.941G>A 22 29444405 STAD G A Missense p.R371H c.1112G>A 22 29445281 STAD G A Missense p.R587H c.1760G>A 22 29445929 HNSC G A Synonymous p.P501P c.1503G>A 22 29445672 BRCA G A Synonymous p.P924P c.2772G>A 22 29449571 BRCA G C Missense p.A725P c.2173G>C 22 29446342 PAAD G C Missense p.A902P c.2704G>C 22 29446873 SCLC G C Missense p.C797S c.2390G>C 22 29446559 ESCA - G Frameshift p.S795Qfs*6 c.2381dupG 22 29446546 HNSC GGCCGACTGCCCAGGCAGCGACA - Frameshift p.A544Qfs*15 c.1630_1652delGCCGACTGCCCAGGCAGCGACAG 22 29445798 LUSC G T Missense p.A922S c.2764G>T 22 29446933 NB G T Missense p.G644C c.1930G>T 22 29446099 HNSC G T Missense p.G821W c.2461G>T 22 29446630 CLL G T Missense p.V228L c.682G>T 22 29440816 HNSC G T Missense p.W120L c.359G>T 22 29383122 CM G T Nonsense p.E404* c.1210G>T 22 29445379 HC T C Missense p.C333R c.997T>C 22 29444461 STAD T G IntronicSNV . c.427-11081T>G 22 29427402 HC - T IntronicInsertion . c.427-16919dupT 22 29421553 STAD