Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 3 153998570 153998570 + Missense_Mutation SNP C C T TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr3:153998570C>T c.2458G>A c.(2458-2460)Gaa>Aaa p.E820K BLCA 3 154002700 154002700 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr3:154002700C>T c.2108G>A c.(2107-2109)gGa>gAa p.G703E BLCA 3 154010428 154010428 + Missense_Mutation SNP G G A TCGA-FD-A6TG-01A-11D-A32B-08 TCGA-FD-A6TG-10A-01D-A329-08 g.chr3:154010428G>A c.1726C>T c.(1726-1728)Cat>Tat p.H576Y BLCA 3 154018863 154018863 + Missense_Mutation SNP T T C TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 g.chr3:154018863T>C c.1271A>G c.(1270-1272)cAa>cGa p.Q424R BLCA 3 154018909 154018909 + Missense_Mutation SNP G G C TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 g.chr3:154018909G>C c.1225C>G c.(1225-1227)Cca>Gca p.P409A BLCA 3 154022956 154022956 + Splice_Site SNP G G A TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 g.chr3:154022956G>A c.895C>T c.(895-897)Cgg>Tgg p.R299W BLCA 3 154027551 154027551 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 g.chr3:154027551C>T c.704G>A c.(703-705)gGc>gAc p.G235D BLCA 3 154032879 154032879 + Missense_Mutation SNP C C G TCGA-GU-AATP-01A-11D-A391-08 TCGA-GU-AATP-10A-01D-A394-08 g.chr3:154032879C>G c.559G>C c.(559-561)Gat>Cat p.D187H BLCA 3 154032967 154032967 + Missense_Mutation SNP G G C TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr3:154032967G>C c.471C>G c.(469-471)atC>atG p.I157M BLCA 3 154033931 154033931 + Missense_Mutation SNP C C T TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr3:154033931C>T c.265G>A c.(265-267)Gaa>Aaa p.E89K BLCA 3 154042035 154042035 + Silent SNP C C T TCGA-ZF-A9RG-01A-21D-A42E-08 TCGA-ZF-A9RG-10A-01D-A42H-08 g.chr3:154042035C>T c.171G>A c.(169-171)ctG>ctA p.L57L BLCA 3 154042138 154042138 + Missense_Mutation SNP C C G TCGA-ZF-A9RG-01A-21D-A42E-08 TCGA-ZF-A9RG-10A-01D-A42H-08 g.chr3:154042138C>G c.68G>C c.(67-69)gGa>gCa p.G23A BRCA 3 153994016 153994016 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:153994016C>T c.2971G>A c.(2971-2973)Gaa>Aaa p.E991K BRCA 3 153995455 153995455 + Missense_Mutation SNP C C T TCGA-A7-A0CH-01A-21W-A019-09 TCGA-A7-A0CH-11A-32W-A10F-09 g.chr3:153995455C>T c.2620G>A c.(2620-2622)Gtt>Att p.V874I BRCA 3 153998628 153998628 + Missense_Mutation SNP C C G TCGA-B6-A402-01A-11D-A23C-09 TCGA-B6-A402-10A-01D-A23C-09 g.chr3:153998628C>G c.2400G>C c.(2398-2400)caG>caC p.Q800H BRCA 3 154033877 154033877 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:154033877C>T c.319G>A c.(319-321)Gat>Aat p.D107N BRCA 3 154042066 154042066 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr3:154042066C>T c.140G>A c.(139-141)cGa>cAa p.R47Q CESC 3 154006737 154006737 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr3:154006737C>T c.1949G>A c.(1948-1950)gGa>gAa p.G650E CESC 3 154018864 154018864 + Nonsense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 g.chr3:154018864G>A c.1270C>T c.(1270-1272)Caa>Taa p.Q424* CESC 3 154024010 154024010 + Silent SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr3:154024010G>T c.888C>A c.(886-888)ctC>ctA p.L296L COAD 3 153993961 153993961 + Silent SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr3:153993961C>T c.3026G>A c.(3025-3027)tGa>tAa p.*1009* COAD 3 153998375 153998375 + Frame_Shift_Del DEL T T - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr3:153998375delT c.2560delA c.(2560-2562)agafs p.R854fs COAD 3 153998375 153998375 + Frame_Shift_Del DEL T T - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr3:153998375delT c.2560delA c.(2560-2562)agafs p.R854fs COAD 3 154001024 154001024 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:154001024C>T c.2329G>A c.(2329-2331)Gaa>Aaa p.E777K COAD 3 154002694 154002695 + Frame_Shift_Ins INS - - T TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr3:154002694_154002695insT c.2113_2114insA c.(2113-2115)atgfs p.M705fs COAD 3 154006723 154006723 + Silent SNP G G A TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr3:154006723G>A c.1963C>T c.(1963-1965)Ctg>Ttg p.L655L COAD 3 154010357 154010357 + Silent SNP T T C TCGA-AA-3968-01A-01W-0995-10 TCGA-AA-3968-10A-01W-0995-10 g.chr3:154010357T>C c.1797A>G c.(1795-1797)agA>agG p.R599R COAD 3 154013085 154013085 + Silent SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:154013085A>G c.1593T>C c.(1591-1593)gtT>gtC p.V531V COAD 3 154024012 154024012 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:154024012G>A c.886C>T c.(886-888)Ctc>Ttc p.L296F COAD 3 154032839 154032839 + Missense_Mutation SNP A A G TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr3:154032839A>G c.599T>C c.(598-600)aTg>aCg p.M200T COAD 3 154032851 154032851 + Missense_Mutation SNP C C A TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr3:154032851C>A c.587G>T c.(586-588)cGg>cTg p.R196L COAD 3 154032851 154032851 + Missense_Mutation SNP C C T TCGA-DM-A0XF-01A-11D-A152-10 TCGA-DM-A0XF-10A-01D-A152-10 g.chr3:154032851C>T c.587G>A c.(586-588)cGg>cAg p.R196Q COAD 3 154032851 154032851 + Missense_Mutation SNP C C T TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr3:154032851C>T c.587G>A c.(586-588)cGg>cAg p.R196Q COAD 3 154032852 154032852 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:154032852G>A c.586C>T c.(586-588)Cgg>Tgg p.R196W COAD 3 154032860 154032860 + Frame_Shift_Del DEL T T - TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr3:154032860delT c.578delA c.(577-579)aatfs p.N193fs COAD 3 154033942 154033942 + Missense_Mutation SNP A A G TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr3:154033942A>G c.254T>C c.(253-255)gTa>gCa p.V85A COAD 3 154042124 154042124 + Missense_Mutation SNP C C A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr3:154042124C>A c.82G>T c.(82-84)Ggg>Tgg p.G28W COADREAD 3 153993961 153993961 + Silent SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr3:153993961C>T c.3026G>A c.(3025-3027)tGa>tAa p.*1009* COADREAD 3 153998375 153998375 + Frame_Shift_Del DEL T T - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr3:153998375delT c.2560delA c.(2560-2562)agafs p.R854fs COADREAD 3 153998375 153998375 + Frame_Shift_Del DEL T T - TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr3:153998375delT c.2560delA c.(2560-2562)agafs p.R854fs COADREAD 3 153998375 153998375 + Frame_Shift_Del DEL T T - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr3:153998375delT c.2560delA c.(2560-2562)agafs p.R854fs COADREAD 3 154001024 154001024 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:154001024C>T c.2329G>A c.(2329-2331)Gaa>Aaa p.E777K COADREAD 3 154002694 154002695 + Frame_Shift_Ins INS - - T TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr3:154002694_154002695insT c.2113_2114insA c.(2113-2115)atgfs p.M705fs COADREAD 3 154002755 154002755 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:154002755C>A c.2053G>T c.(2053-2055)Gaa>Taa p.E685* COADREAD 3 154006723 154006723 + Silent SNP G G A TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr3:154006723G>A c.1963C>T c.(1963-1965)Ctg>Ttg p.L655L COADREAD 3 154010357 154010357 + Silent SNP T T C TCGA-AA-3968-01A-01W-0995-10 TCGA-AA-3968-10A-01W-0995-10 g.chr3:154010357T>C c.1797A>G c.(1795-1797)agA>agG p.R599R COADREAD 3 154011585 154011585 + Missense_Mutation SNP G G A TCGA-DY-A1H8-01A-21D-A152-10 TCGA-DY-A1H8-10A-01D-A152-10 g.chr3:154011585G>A c.1622C>T c.(1621-1623)cCt>cTt p.P541L COADREAD 3 154011591 154011591 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:154011591C>A c.1616G>T c.(1615-1617)aGa>aTa p.R539I COADREAD 3 154013085 154013085 + Silent SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:154013085A>G c.1593T>C c.(1591-1593)gtT>gtC p.V531V COADREAD 3 154022661 154022661 + Nonsense_Mutation SNP G G A TCGA-G5-6641-01A-11D-1826-10 TCGA-G5-6641-10A-01D-1826-10 g.chr3:154022661G>A c.1069C>T c.(1069-1071)Cga>Tga p.R357* COADREAD 3 154024012 154024012 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:154024012G>A c.886C>T c.(886-888)Ctc>Ttc p.L296F COADREAD 3 154027489 154027489 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr3:154027489C>T c.766G>A c.(766-768)Gct>Act p.A256T COADREAD 3 154032839 154032839 + Missense_Mutation SNP A A G TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr3:154032839A>G c.599T>C c.(598-600)aTg>aCg p.M200T COADREAD 3 154032850 154032850 + Silent SNP C C T TCGA-AG-3731-01A-11D-1733-10 TCGA-AG-3731-11A-01D-1733-10 g.chr3:154032850C>T c.588G>A c.(586-588)cgG>cgA p.R196R COADREAD 3 154032851 154032851 + Missense_Mutation SNP C C A TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr3:154032851C>A c.587G>T c.(586-588)cGg>cTg p.R196L COADREAD 3 154032851 154032851 + Missense_Mutation SNP C C T TCGA-DM-A0XF-01A-11D-A152-10 TCGA-DM-A0XF-10A-01D-A152-10 g.chr3:154032851C>T c.587G>A c.(586-588)cGg>cAg p.R196Q COADREAD 3 154032851 154032851 + Missense_Mutation SNP C C T TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chr3:154032851C>T c.587G>A c.(586-588)cGg>cAg p.R196Q COADREAD 3 154032852 154032852 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:154032852G>A c.586C>T c.(586-588)Cgg>Tgg p.R196W COADREAD 3 154032860 154032860 + Frame_Shift_Del DEL T T - TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr3:154032860delT c.578delA c.(577-579)aatfs p.N193fs COADREAD 3 154033942 154033942 + Missense_Mutation SNP A A G TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr3:154033942A>G c.254T>C c.(253-255)gTa>gCa p.V85A COADREAD 3 154042124 154042124 + Missense_Mutation SNP C C A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr3:154042124C>A c.82G>T c.(82-84)Ggg>Tgg p.G28W COADREAD 3 154042165 154042165 + Frame_Shift_Del DEL C C - TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr3:154042165delC c.41delG c.(40-42)ggtfs p.G14fs DLBC 3 154002774 154002774 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr3:154002774G>A c.2034C>T c.(2032-2034)aaC>aaT p.N678N ESCA 3 153993988 153993988 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 g.chr3:153993988G>T c.2999C>A c.(2998-3000)cCa>cAa p.P1000Q ESCA 3 154018442 154018442 + Missense_Mutation SNP C C T TCGA-L5-A43I-01A-11D-A247-09 TCGA-L5-A43I-11A-11D-A247-09 g.chr3:154018442C>T c.1402G>A c.(1402-1404)Gat>Aat p.D468N GBMLGG 3 154024015 154024015 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:154024015G>A c.883C>T c.(883-885)Cgt>Tgt p.R295C GBMLGG 3 154032922 154032922 + Silent SNP T T C TCGA-DB-A75L-01A-11D-A32B-08 TCGA-DB-A75L-10A-01D-A329-08 g.chr3:154032922T>C c.516A>G c.(514-516)caA>caG p.Q172Q GBMLGG 3 154041998 154041999 + Frame_Shift_Ins INS - - T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:154041998_154041999insT c.207_208insA c.(205-210)aaacagfs p.Q70fs HNSC 3 153994063 153994063 + Missense_Mutation SNP C C T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 g.chr3:153994063C>T c.2924G>A c.(2923-2925)aGa>aAa p.R975K HNSC 3 154002694 154002694 + Missense_Mutation SNP A A T TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 g.chr3:154002694A>T c.2114T>A c.(2113-2115)aTg>aAg p.M705K HNSC 3 154002767 154002767 + Missense_Mutation SNP C C T TCGA-CQ-7064-01A-11D-2394-08 TCGA-CQ-7064-10A-01D-2394-08 g.chr3:154002767C>T c.2041G>A c.(2041-2043)Gat>Aat p.D681N HNSC 3 154013097 154013097 + Silent SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 g.chr3:154013097C>T c.1581G>A c.(1579-1581)ctG>ctA p.L527L HNSC 3 154018467 154018467 + Silent SNP T T C TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 g.chr3:154018467T>C c.1377A>G c.(1375-1377)gtA>gtG p.V459V HNSC 3 154022616 154022616 + Missense_Mutation SNP C C G TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 g.chr3:154022616C>G c.1114G>C c.(1114-1116)Gaa>Caa p.E372Q HNSC 3 154022638 154022638 + Missense_Mutation SNP C C A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 g.chr3:154022638C>A c.1092G>T c.(1090-1092)ttG>ttT p.L364F HNSC 3 154022739 154022739 + Missense_Mutation SNP T T A TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 g.chr3:154022739T>A c.991A>T c.(991-993)Atc>Ttc p.I331F HNSC 3 154022955 154022955 + Missense_Mutation SNP C C T TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 g.chr3:154022955C>T c.896G>A c.(895-897)cGg>cAg p.R299Q HNSC 3 154027464 154027464 + Missense_Mutation SNP G G T TCGA-CN-A641-01A-11D-A30E-08 TCGA-CN-A641-10A-01D-A30H-08 g.chr3:154027464G>T c.791C>A c.(790-792)cCa>cAa p.P264Q HNSC 3 154027540 154027540 + Nonsense_Mutation SNP G G A TCGA-CQ-6219-01A-11D-1912-08 TCGA-CQ-6219-10A-01D-1912-08 g.chr3:154027540G>A c.715C>T c.(715-717)Caa>Taa p.Q239* KICH 3 154033067 154033067 + Missense_Mutation SNP T T A TCGA-KL-8338-01A-11D-2310-10 TCGA-KL-8338-11A-01D-2310-10 g.chr3:154033067T>A c.371A>T c.(370-372)tAc>tTc p.Y124F KIPAN 3 153994678 153994678 + Missense_Mutation SNP T T C TCGA-BP-4989-01A-01D-1462-08 TCGA-BP-4989-11A-01D-1462-08 g.chr3:153994678T>C c.2699A>G c.(2698-2700)tAt>tGt p.Y900C KIPAN 3 154018456 154018456 + Missense_Mutation SNP T T A TCGA-B0-4842-01A-02D-1421-08 TCGA-B0-4842-11A-01D-1421-08 g.chr3:154018456T>A c.1388A>T c.(1387-1389)gAa>gTa p.E463V KIPAN 3 154018902 154018902 + Missense_Mutation SNP T T C TCGA-CZ-4854-01A-01D-1373-10 TCGA-CZ-4854-11A-01D-1373-10 g.chr3:154018902T>C c.1232A>G c.(1231-1233)cAa>cGa p.Q411R KIPAN 3 154018911 154018911 + Missense_Mutation SNP A A T TCGA-B2-5633-01A-01D-1534-10 TCGA-B2-5633-10A-01D-1535-10 g.chr3:154018911A>T c.1223T>A c.(1222-1224)gTt>gAt p.V408D KIPAN 3 154022915 154022915 + Silent SNP T T A TCGA-BP-5174-01A-01D-1429-08 TCGA-BP-5174-11A-01D-1429-08 g.chr3:154022915T>A c.936A>T c.(934-936)acA>acT p.T312T KIPAN 3 154033067 154033067 + Missense_Mutation SNP T T A TCGA-KL-8338-01A-11D-2310-10 TCGA-KL-8338-11A-01D-2310-10 g.chr3:154033067T>A c.371A>T c.(370-372)tAc>tTc p.Y124F KIRC 3 153994678 153994678 + Missense_Mutation SNP T T C TCGA-BP-4989-01A-01D-1462-08 TCGA-BP-4989-11A-01D-1462-08 g.chr3:153994678T>C c.2699A>G c.(2698-2700)tAt>tGt p.Y900C KIRC 3 154018456 154018456 + Missense_Mutation SNP T T A TCGA-B0-4842-01A-02D-1421-08 TCGA-B0-4842-11A-01D-1421-08 g.chr3:154018456T>A c.1388A>T c.(1387-1389)gAa>gTa p.E463V KIRC 3 154018902 154018902 + Missense_Mutation SNP T T C TCGA-CZ-4854-01A-01D-1373-10 TCGA-CZ-4854-11A-01D-1373-10 g.chr3:154018902T>C c.1232A>G c.(1231-1233)cAa>cGa p.Q411R KIRC 3 154018911 154018911 + Missense_Mutation SNP A A T TCGA-B2-5633-01A-01D-1534-10 TCGA-B2-5633-10A-01D-1535-10 g.chr3:154018911A>T c.1223T>A c.(1222-1224)gTt>gAt p.V408D KIRC 3 154022915 154022915 + Silent SNP T T A TCGA-BP-5174-01A-01D-1429-08 TCGA-BP-5174-11A-01D-1429-08 g.chr3:154022915T>A c.936A>T c.(934-936)acA>acT p.T312T LGG 3 154024015 154024015 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:154024015G>A c.883C>T c.(883-885)Cgt>Tgt p.R295C LGG 3 154032922 154032922 + Silent SNP T T C TCGA-DB-A75L-01A-11D-A32B-08 TCGA-DB-A75L-10A-01D-A329-08 g.chr3:154032922T>C c.516A>G c.(514-516)caA>caG p.Q172Q LGG 3 154041998 154041999 + Frame_Shift_Ins INS - - T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:154041998_154041999insT c.207_208insA c.(205-210)aaacagfs p.Q70fs LIHC 3 153998561 153998561 + Missense_Mutation SNP T T C TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr3:153998561T>C c.2467A>G c.(2467-2469)Ata>Gta p.I823V LIHC 3 154010423 154010423 + Frame_Shift_Del DEL A A - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr3:154010423delA c.1731delT c.(1729-1731)tttfs p.F577fs LIHC 3 154022720 154022720 + Missense_Mutation SNP T T C TCGA-DD-AAE7-01A-11D-A40R-10 TCGA-DD-AAE7-10A-01D-A40U-10 g.chr3:154022720T>C c.1010A>G c.(1009-1011)cAt>cGt p.H337R LIHC 3 154032979 154032979 + Missense_Mutation SNP T T A TCGA-DD-AACY-01A-11D-A40R-10 TCGA-DD-AACY-10A-01D-A40U-10 g.chr3:154032979T>A c.459A>T c.(457-459)aaA>aaT p.K153N LIHC 3 154042059 154042060 + Frame_Shift_Ins INS - - C TCGA-BC-A10R-01A-11D-A12Z-10 TCGA-BC-A10R-11A-11D-A12Z-10 g.chr3:154042059_154042060insC c.146_147insG c.(145-147)ggcfs p.G49fs LUAD 3 153998375 153998375 + Frame_Shift_Del DEL T T - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr3:153998375delT c.2560delA c.(2560-2562)agafs p.R854fs LUAD 3 153998377 153998377 + Missense_Mutation SNP T T C TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr3:153998377T>C c.2558A>G c.(2557-2559)aAa>aGa p.K853R LUAD 3 154011591 154011591 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 g.chr3:154011591C>G c.1616G>C c.(1615-1617)aGa>aCa p.R539T LUAD 3 154011603 154011603 + Splice_Site SNP T T C TCGA-17-Z053-01A-01W-0747-08 TCGA-17-Z053-11A-01W-0747-08 g.chr3:154011603T>C c.e14-2 LUAD 3 154027503 154027503 + Missense_Mutation SNP C C T TCGA-49-6745-01A-11D-1855-08 TCGA-49-6745-11A-01D-1855-08 g.chr3:154027503C>T c.752G>A c.(751-753)aGa>aAa p.R251K LUAD 3 154027551 154027551 + Frame_Shift_Del DEL C C - TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr3:154027551delC c.704delG c.(703-705)ggcfs p.G235fs LUAD 3 154042080 154042080 + Silent SNP G G A TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr3:154042080G>A c.126C>T c.(124-126)ggC>ggT p.G42G LUAD 3 154042092 154042092 + Silent SNP T T A TCGA-97-7937-01A-11D-2167-08 TCGA-97-7937-10A-01D-2167-08 g.chr3:154042092T>A c.114A>T c.(112-114)ggA>ggT p.G38G LUAD 3 154042124 154042124 + Missense_Mutation SNP C C T TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chr3:154042124C>T c.82G>A c.(82-84)Ggg>Agg p.G28R LUSC 3 154001039 154001039 + Missense_Mutation SNP G G A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 g.chr3:154001039G>A c.2314C>T c.(2314-2316)Cgt>Tgt p.R772C LUSC 3 154010470 154010470 + Missense_Mutation SNP C C T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 g.chr3:154010470C>T c.1684G>A c.(1684-1686)Gat>Aat p.D562N LUSC 3 154017707 154017707 + Missense_Mutation SNP G G A TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 g.chr3:154017707G>A c.1469C>T c.(1468-1470)gCg>gTg p.A490V LUSC 3 154024045 154024045 + Missense_Mutation SNP C C A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 g.chr3:154024045C>A c.853G>T c.(853-855)Ggc>Tgc p.G285C PAAD 3 153995419 153995419 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:153995419G>A c.2656C>T c.(2656-2658)Ctt>Ttt p.L886F PAAD 3 154002724 154002724 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:154002724C>T c.2084G>A c.(2083-2085)cGa>cAa p.R695Q PAAD 3 154018452 154018452 + Missense_Mutation SNP C C T TCGA-FB-AAQ0-01A-31D-A40W-08 TCGA-FB-AAQ0-11A-11D-A40W-08 g.chr3:154018452C>T c.1392G>A c.(1390-1392)atG>atA p.M464I PAAD 3 154018839 154018839 + Missense_Mutation SNP T T A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 g.chr3:154018839T>A c.1295A>T c.(1294-1296)aAa>aTa p.K432I PAAD 3 154018849 154018849 + Missense_Mutation SNP T T C TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 g.chr3:154018849T>C c.1285A>G c.(1285-1287)Aga>Gga p.R429G PAAD 3 154032888 154032888 + Missense_Mutation SNP A A C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 g.chr3:154032888A>C c.550T>G c.(550-552)Tta>Gta p.L184V PAAD 3 154032977 154032978 + Frame_Shift_Ins INS - - T TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 g.chr3:154032977_154032978insT c.460_461insA c.(460-462)atgfs p.M154fs PAAD 3 154032977 154032978 + Frame_Shift_Ins INS - - T TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 g.chr3:154032977_154032978insT c.460_461insA c.(460-462)atgfs p.M154fs PAAD 3 154032977 154032978 + Frame_Shift_Ins INS - - T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 g.chr3:154032977_154032978insT c.460_461insA c.(460-462)atgfs p.M154fs PAAD 3 154032977 154032978 + Frame_Shift_Ins INS - - T TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 g.chr3:154032977_154032978insT c.460_461insA c.(460-462)atgfs p.M154fs PAAD 3 154032977 154032978 + Frame_Shift_Ins INS - - T TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 g.chr3:154032977_154032978insT c.460_461insA c.(460-462)atgfs p.M154fs PAAD 3 154042078 154042080 + In_Frame_Del DEL CCG CCG - TCGA-OE-A75W-01A-12D-A32N-08 TCGA-OE-A75W-10A-01D-A32N-08 g.chr3:154042078_154042080delCCG c.126_128delCGG c.(124-129)ggcgga>gga p.42_43GG>G PRAD 3 154002379 154002379 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:154002379G>A c.2285C>T c.(2284-2286)gCg>gTg p.A762V PRAD 3 154010465 154010465 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:154010465G>A c.1689C>T c.(1687-1689)gtC>gtT p.V563V PRAD 3 154032977 154032978 + Frame_Shift_Ins INS - - T TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr3:154032977_154032978insT c.460_461insA c.(460-462)atgfs p.M154fs READ 3 153998375 153998375 + Frame_Shift_Del DEL T T - TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr3:153998375delT c.2560delA c.(2560-2562)agafs p.R854fs READ 3 154002755 154002755 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:154002755C>A c.2053G>T c.(2053-2055)Gaa>Taa p.E685* READ 3 154011585 154011585 + Missense_Mutation SNP G G A TCGA-DY-A1H8-01A-21D-A152-10 TCGA-DY-A1H8-10A-01D-A152-10 g.chr3:154011585G>A c.1622C>T c.(1621-1623)cCt>cTt p.P541L READ 3 154011591 154011591 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:154011591C>A c.1616G>T c.(1615-1617)aGa>aTa p.R539I READ 3 154022661 154022661 + Nonsense_Mutation SNP G G A TCGA-G5-6641-01A-11D-1826-10 TCGA-G5-6641-10A-01D-1826-10 g.chr3:154022661G>A c.1069C>T c.(1069-1071)Cga>Tga p.R357* READ 3 154027489 154027489 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr3:154027489C>T c.766G>A c.(766-768)Gct>Act p.A256T READ 3 154032850 154032850 + Silent SNP C C T TCGA-AG-3731-01A-11D-1733-10 TCGA-AG-3731-11A-01D-1733-10 g.chr3:154032850C>T c.588G>A c.(586-588)cgG>cgA p.R196R READ 3 154042165 154042165 + Frame_Shift_Del DEL C C - TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr3:154042165delC c.41delG c.(40-42)ggtfs p.G14fs SKCM 3 153993991 153993991 + Missense_Mutation SNP G G C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr3:153993991G>C c.2996C>G c.(2995-2997)cCg>cGg p.P999R SKCM 3 153998449 153998449 + Missense_Mutation SNP T T A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr3:153998449T>A c.2486A>T c.(2485-2487)aAg>aTg p.K829M SKCM 3 154001041 154001041 + Missense_Mutation SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr3:154001041C>T c.2312G>A c.(2311-2313)cGa>cAa p.R771Q SKCM 3 154007527 154007527 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr3:154007527G>A c.1903C>T c.(1903-1905)Cct>Tct p.P635S SKCM 3 154007607 154007607 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr3:154007607G>A c.1823C>T c.(1822-1824)cCt>cTt p.P608L SKCM 3 154017629 154017629 + Missense_Mutation SNP G G A TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr3:154017629G>A c.1547C>T c.(1546-1548)tCa>tTa p.S516L SKCM 3 154018391 154018391 + Missense_Mutation SNP C C T TCGA-RP-A694-06A-11D-A30X-08 TCGA-RP-A694-10A-01D-A30X-08 g.chr3:154018391C>T c.1453G>A c.(1453-1455)Gaa>Aaa p.E485K SKCM 3 154024015 154024015 + Missense_Mutation SNP G G A TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr3:154024015G>A c.883C>T c.(883-885)Cgt>Tgt p.R295C SKCM 3 154027598 154027598 + Silent SNP T T C TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 g.chr3:154027598T>C c.657A>G c.(655-657)ttA>ttG p.L219L SKCM 3 154032852 154032852 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr3:154032852G>A c.586C>T c.(586-588)Cgg>Tgg p.R196W SKCM 3 154042037 154042037 + Silent SNP G G A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr3:154042037G>A c.169C>T c.(169-171)Ctg>Ttg p.L57L SKCM 3 154042118 154042118 + Missense_Mutation SNP G G A TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 g.chr3:154042118G>A c.88C>T c.(88-90)Cat>Tat p.H30Y

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 3 154002700 154002700 single base substitution C T exon_variant BLCA-US 3 154002700 154002700 single base substitution C T missense_variant G149E 446G>A BLCA-US 3 154002700 154002700 single base substitution C T missense_variant G617E 1850G>A BLCA-US 3 154002700 154002700 single base substitution C T missense_variant G689E 2066G>A BLCA-US 3 154002700 154002700 single base substitution C T missense_variant G703E 2108G>A BLCA-US 3 154002700 154002700 single base substitution C T upstream_gene_variant BLCA-US 3 154018863 154018863 single base substitution T C downstream_gene_variant BLCA-US 3 154018863 154018863 single base substitution T C missense_variant Q338R 1013A>G BLCA-US 3 154018863 154018863 single base substitution T C missense_variant Q424R 1271A>G BLCA-US 3 154018909 154018909 single base substitution G C downstream_gene_variant BLCA-US 3 154018909 154018909 single base substitution G C missense_variant P323A 967C>G BLCA-US 3 154018909 154018909 single base substitution G C missense_variant P409A 1225C>G BOCA-UK 3 154022722 154022722 single base substitution G T downstream_gene_variant BOCA-UK 3 154022722 154022722 single base substitution G T exon_variant BOCA-UK 3 154022722 154022722 single base substitution G T synonymous_variant I250I 750C>A BOCA-UK 3 154022722 154022722 single base substitution G T synonymous_variant I336I 1008C>A BRCA-EU 3 153986189 153986189 single base substitution G A downstream_gene_variant BRCA-EU 3 153988397 153988397 single base substitution G T downstream_gene_variant BRCA-EU 3 153988594 153988594 single base substitution C T downstream_gene_variant BRCA-EU 3 153988683 153988683 single base substitution A G downstream_gene_variant BRCA-EU 3 153990837 153990837 insertion of <=200bp - T 3_prime_UTR_variant BRCA-EU 3 153990837 153990837 insertion of <=200bp - T downstream_gene_variant BRCA-EU 3 153992240 153992240 single base substitution C A 3_prime_UTR_variant BRCA-EU 3 153992240 153992240 single base substitution C A downstream_gene_variant BRCA-EU 3 153992399 153992399 single base substitution C G 3_prime_UTR_variant BRCA-EU 3 153992399 153992399 single base substitution C G downstream_gene_variant BRCA-EU 3 153993197 153993197 single base substitution T G 3_prime_UTR_variant BRCA-EU 3 153993197 153993197 single base substitution T G downstream_gene_variant BRCA-EU 3 153993986 153993986 single base substitution G C downstream_gene_variant BRCA-EU 3 153993986 153993986 single base substitution G C exon_variant BRCA-EU 3 153993986 153993986 single base substitution G C missense_variant R1001G 3001C>G BRCA-EU 3 153993986 153993986 single base substitution G C missense_variant R972G 2914C>G BRCA-EU 3 153993986 153993986 single base substitution G C missense_variant R987G 2959C>G BRCA-EU 3 153995034 153995034 single base substitution G C downstream_gene_variant BRCA-EU 3 153995034 153995034 single base substitution G C intron_variant BRCA-EU 3 153995338 153995338 single base substitution A G downstream_gene_variant BRCA-EU 3 153995338 153995338 single base substitution A G intron_variant BRCA-EU 3 153996307 153996307 single base substitution C A exon_variant BRCA-EU 3 153996307 153996307 single base substitution C A intron_variant BRCA-EU 3 153996307 153996307 single base substitution C A upstream_gene_variant BRCA-EU 3 153997336 153997336 single base substitution G A exon_variant BRCA-EU 3 153997336 153997336 single base substitution G A intron_variant BRCA-EU 3 153997336 153997336 single base substitution G A upstream_gene_variant BRCA-EU 3 153997925 153997925 single base substitution C T downstream_gene_variant BRCA-EU 3 153997925 153997925 single base substitution C T exon_variant BRCA-EU 3 153997925 153997925 single base substitution C T intron_variant BRCA-EU 3 153997925 153997925 single base substitution C T upstream_gene_variant BRCA-EU 3 153998396 153998396 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 153998396 153998396 single base substitution G A downstream_gene_variant BRCA-EU 3 153998396 153998396 single base substitution G A exon_variant BRCA-EU 3 153998396 153998396 single base substitution G A stop_gained R761* 2281C>T BRCA-EU 3 153998396 153998396 single base substitution G A stop_gained R818* 2452C>T BRCA-EU 3 153998396 153998396 single base substitution G A stop_gained R833* 2497C>T BRCA-EU 3 153998396 153998396 single base substitution G A stop_gained R847* 2539C>T BRCA-EU 3 153998396 153998396 single base substitution G A upstream_gene_variant BRCA-EU 3 153999132 153999177 deletion of <=200bp ATGGCAGGTAAGCTTAAGGTTTTGTTTTTTTTTTAAATAATGATAC - downstream_gene_variant BRCA-EU 3 153999132 153999177 deletion of <=200bp ATGGCAGGTAAGCTTAAGGTTTTGTTTTTTTTTTAAATAATGATAC - intron_variant BRCA-EU 3 153999132 153999177 deletion of <=200bp ATGGCAGGTAAGCTTAAGGTTTTGTTTTTTTTTTAAATAATGATAC - upstream_gene_variant BRCA-EU 3 154000276 154000276 single base substitution T C downstream_gene_variant BRCA-EU 3 154000276 154000276 single base substitution T C intron_variant BRCA-EU 3 154000276 154000276 single base substitution T C upstream_gene_variant BRCA-EU 3 154000312 154000312 single base substitution C T downstream_gene_variant BRCA-EU 3 154000312 154000312 single base substitution C T intron_variant BRCA-EU 3 154000312 154000312 single base substitution C T upstream_gene_variant BRCA-EU 3 154000413 154000413 insertion of <=200bp - T downstream_gene_variant BRCA-EU 3 154000413 154000413 insertion of <=200bp - T intron_variant BRCA-EU 3 154000413 154000413 insertion of <=200bp - T upstream_gene_variant BRCA-EU 3 154000580 154000580 single base substitution C T downstream_gene_variant BRCA-EU 3 154000580 154000580 single base substitution C T intron_variant BRCA-EU 3 154000580 154000580 single base substitution C T upstream_gene_variant BRCA-EU 3 154003543 154003543 single base substitution G T intron_variant BRCA-EU 3 154003543 154003543 single base substitution G T upstream_gene_variant BRCA-EU 3 154003609 154003609 single base substitution T A intron_variant BRCA-EU 3 154003609 154003609 single base substitution T A upstream_gene_variant BRCA-EU 3 154003894 154003894 single base substitution G C intron_variant BRCA-EU 3 154003894 154003894 single base substitution G C upstream_gene_variant BRCA-EU 3 154005256 154005256 single base substitution C A intron_variant BRCA-EU 3 154005256 154005256 single base substitution C A upstream_gene_variant BRCA-EU 3 154007292 154007292 single base substitution C G intron_variant BRCA-EU 3 154007292 154007292 single base substitution C G upstream_gene_variant BRCA-EU 3 154007417 154007417 single base substitution T C intron_variant BRCA-EU 3 154007417 154007417 single base substitution T C upstream_gene_variant BRCA-EU 3 154007854 154007854 single base substitution C A intron_variant BRCA-EU 3 154008662 154008662 single base substitution G T intron_variant BRCA-EU 3 154009112 154009112 single base substitution A C intron_variant BRCA-EU 3 154010778 154010778 single base substitution C G intron_variant BRCA-EU 3 154010778 154010778 single base substitution C G upstream_gene_variant BRCA-EU 3 154011191 154011191 single base substitution G A intron_variant BRCA-EU 3 154011191 154011191 single base substitution G A upstream_gene_variant BRCA-EU 3 154011620 154011620 single base substitution C T intron_variant BRCA-EU 3 154011620 154011620 single base substitution C T upstream_gene_variant BRCA-EU 3 154012458 154012458 single base substitution C G intron_variant BRCA-EU 3 154012458 154012458 single base substitution C G upstream_gene_variant BRCA-EU 3 154012984 154012984 deletion of <=200bp A - intron_variant BRCA-EU 3 154012984 154012984 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 154013550 154013550 single base substitution T C intron_variant BRCA-EU 3 154013550 154013550 single base substitution T C upstream_gene_variant BRCA-EU 3 154014051 154014051 single base substitution C A intron_variant BRCA-EU 3 154014051 154014051 single base substitution C A upstream_gene_variant BRCA-EU 3 154014442 154014442 single base substitution G A intron_variant BRCA-EU 3 154014442 154014442 single base substitution G A upstream_gene_variant BRCA-EU 3 154015059 154015059 single base substitution G C intron_variant BRCA-EU 3 154015059 154015059 single base substitution G C upstream_gene_variant BRCA-EU 3 154015151 154015151 single base substitution G A intron_variant BRCA-EU 3 154015151 154015151 single base substitution G A upstream_gene_variant BRCA-EU 3 154015837 154015837 single base substitution G C intron_variant BRCA-EU 3 154015837 154015837 single base substitution G C upstream_gene_variant BRCA-EU 3 154016346 154016346 single base substitution A C downstream_gene_variant BRCA-EU 3 154016346 154016346 single base substitution A C intron_variant BRCA-EU 3 154016346 154016346 single base substitution A C upstream_gene_variant BRCA-EU 3 154017358 154017358 single base substitution A C downstream_gene_variant BRCA-EU 3 154017358 154017358 single base substitution A C intron_variant BRCA-EU 3 154017358 154017358 single base substitution A C upstream_gene_variant BRCA-EU 3 154018477 154018477 single base substitution G A downstream_gene_variant BRCA-EU 3 154018477 154018477 single base substitution G A missense_variant A370V 1109C>T BRCA-EU 3 154018477 154018477 single base substitution G A missense_variant A456V 1367C>T BRCA-EU 3 154018908 154018908 single base substitution G A downstream_gene_variant BRCA-EU 3 154018908 154018908 single base substitution G A missense_variant P323L 968C>T BRCA-EU 3 154018908 154018908 single base substitution G A missense_variant P409L 1226C>T BRCA-EU 3 154020432 154020432 single base substitution G C downstream_gene_variant BRCA-EU 3 154020432 154020432 single base substitution G C intron_variant BRCA-EU 3 154020763 154020763 single base substitution G A downstream_gene_variant BRCA-EU 3 154020763 154020763 single base substitution G A intron_variant BRCA-EU 3 154022868 154022868 single base substitution T C downstream_gene_variant BRCA-EU 3 154022868 154022868 single base substitution T C intron_variant BRCA-EU 3 154023379 154023379 single base substitution C T downstream_gene_variant BRCA-EU 3 154023379 154023379 single base substitution C T intron_variant BRCA-EU 3 154023379 154023379 single base substitution C T upstream_gene_variant BRCA-EU 3 154024588 154024588 single base substitution A C downstream_gene_variant BRCA-EU 3 154024588 154024588 single base substitution A C intron_variant BRCA-EU 3 154024588 154024588 single base substitution A C upstream_gene_variant BRCA-EU 3 154025879 154025879 single base substitution G C downstream_gene_variant BRCA-EU 3 154025879 154025879 single base substitution G C intron_variant BRCA-EU 3 154025879 154025879 single base substitution G C upstream_gene_variant BRCA-EU 3 154025923 154025923 single base substitution T C downstream_gene_variant BRCA-EU 3 154025923 154025923 single base substitution T C intron_variant BRCA-EU 3 154025923 154025923 single base substitution T C upstream_gene_variant BRCA-EU 3 154027724 154027724 single base substitution C G downstream_gene_variant BRCA-EU 3 154027724 154027724 single base substitution C G intron_variant BRCA-EU 3 154027724 154027724 single base substitution C G upstream_gene_variant BRCA-EU 3 154027919 154027919 single base substitution G A downstream_gene_variant BRCA-EU 3 154027919 154027919 single base substitution G A intron_variant BRCA-EU 3 154027919 154027919 single base substitution G A upstream_gene_variant BRCA-EU 3 154029163 154029163 single base substitution C G downstream_gene_variant BRCA-EU 3 154029163 154029163 single base substitution C G intron_variant BRCA-EU 3 154029668 154029668 single base substitution A G downstream_gene_variant BRCA-EU 3 154029668 154029668 single base substitution A G exon_variant BRCA-EU 3 154029668 154029668 single base substitution A G intron_variant BRCA-EU 3 154032249 154032249 single base substitution T C downstream_gene_variant BRCA-EU 3 154032249 154032249 single base substitution T C intron_variant BRCA-EU 3 154032249 154032249 single base substitution T C upstream_gene_variant BRCA-EU 3 154032261 154032261 single base substitution C A downstream_gene_variant BRCA-EU 3 154032261 154032261 single base substitution C A intron_variant BRCA-EU 3 154032261 154032261 single base substitution C A upstream_gene_variant BRCA-EU 3 154032281 154032281 single base substitution T C downstream_gene_variant BRCA-EU 3 154032281 154032281 single base substitution T C intron_variant BRCA-EU 3 154032281 154032281 single base substitution T C upstream_gene_variant BRCA-EU 3 154032851 154032851 single base substitution C T exon_variant BRCA-EU 3 154032851 154032851 single base substitution C T missense_variant R110Q 329G>A BRCA-EU 3 154032851 154032851 single base substitution C T missense_variant R196Q 587G>A BRCA-EU 3 154032851 154032851 single base substitution C T upstream_gene_variant BRCA-EU 3 154033525 154033525 single base substitution C T intron_variant BRCA-EU 3 154033525 154033525 single base substitution C T upstream_gene_variant BRCA-EU 3 154033583 154033583 single base substitution G C intron_variant BRCA-EU 3 154033583 154033583 single base substitution G C upstream_gene_variant BRCA-EU 3 154033823 154033823 single base substitution C T splice_region_variant BRCA-EU 3 154033823 154033823 single base substitution C T upstream_gene_variant BRCA-EU 3 154034663 154034663 single base substitution G T intron_variant BRCA-EU 3 154034663 154034663 single base substitution G T upstream_gene_variant BRCA-EU 3 154034761 154034761 single base substitution T C intron_variant BRCA-EU 3 154034761 154034761 single base substitution T C upstream_gene_variant BRCA-EU 3 154035238 154035238 single base substitution C T intron_variant BRCA-EU 3 154035269 154035269 single base substitution A G intron_variant BRCA-EU 3 154035846 154035846 single base substitution G C intron_variant BRCA-EU 3 154037448 154037448 single base substitution T A intron_variant BRCA-EU 3 154037448 154037448 single base substitution T A upstream_gene_variant BRCA-EU 3 154037773 154037773 single base substitution C A intron_variant BRCA-EU 3 154037773 154037773 single base substitution C A upstream_gene_variant BRCA-EU 3 154038717 154038717 single base substitution C T intron_variant BRCA-EU 3 154038717 154038717 single base substitution C T upstream_gene_variant BRCA-EU 3 154039061 154039064 deletion of <=200bp CATG - intron_variant BRCA-EU 3 154039061 154039064 deletion of <=200bp CATG - upstream_gene_variant BRCA-EU 3 154039405 154039405 single base substitution A G intron_variant BRCA-EU 3 154039405 154039405 single base substitution A G upstream_gene_variant BRCA-EU 3 154040178 154040178 single base substitution C T intron_variant BRCA-EU 3 154040178 154040178 single base substitution C T upstream_gene_variant BRCA-EU 3 154040455 154040456 deletion of <=200bp TA - intron_variant BRCA-EU 3 154040455 154040456 deletion of <=200bp TA - upstream_gene_variant BRCA-EU 3 154040750 154040750 single base substitution G C intron_variant BRCA-EU 3 154040750 154040750 single base substitution G C upstream_gene_variant BRCA-EU 3 154041102 154041102 single base substitution C T intron_variant BRCA-EU 3 154041102 154041102 single base substitution C T upstream_gene_variant BRCA-EU 3 154041601 154041601 single base substitution C A intron_variant BRCA-EU 3 154041601 154041601 single base substitution C A upstream_gene_variant BRCA-EU 3 154043191 154043191 single base substitution C G upstream_gene_variant BRCA-EU 3 154043865 154043865 single base substitution C A upstream_gene_variant BRCA-EU 3 154044791 154044791 single base substitution G T upstream_gene_variant BRCA-EU 3 154045274 154045274 single base substitution G C upstream_gene_variant BRCA-FR 3 153993197 153993197 single base substitution T G 3_prime_UTR_variant BRCA-FR 3 153993197 153993197 single base substitution T G downstream_gene_variant BRCA-FR 3 153997336 153997336 single base substitution G A exon_variant BRCA-FR 3 153997336 153997336 single base substitution G A intron_variant BRCA-FR 3 153997336 153997336 single base substitution G A upstream_gene_variant BRCA-FR 3 154000312 154000312 single base substitution C T downstream_gene_variant BRCA-FR 3 154000312 154000312 single base substitution C T intron_variant BRCA-FR 3 154000312 154000312 single base substitution C T upstream_gene_variant BRCA-FR 3 154010778 154010778 single base substitution C G intron_variant BRCA-FR 3 154010778 154010778 single base substitution C G upstream_gene_variant BRCA-FR 3 154016346 154016346 single base substitution A C downstream_gene_variant BRCA-FR 3 154016346 154016346 single base substitution A C intron_variant BRCA-FR 3 154016346 154016346 single base substitution A C upstream_gene_variant BRCA-FR 3 154024531 154024531 single base substitution G T downstream_gene_variant BRCA-FR 3 154024531 154024531 single base substitution G T intron_variant BRCA-FR 3 154024531 154024531 single base substitution G T upstream_gene_variant BRCA-FR 3 154027346 154027346 single base substitution G A downstream_gene_variant BRCA-FR 3 154027346 154027346 single base substitution G A intron_variant BRCA-FR 3 154027346 154027346 single base substitution G A upstream_gene_variant BRCA-FR 3 154027919 154027919 single base substitution G A downstream_gene_variant BRCA-FR 3 154027919 154027919 single base substitution G A intron_variant BRCA-FR 3 154027919 154027919 single base substitution G A upstream_gene_variant BRCA-FR 3 154029163 154029163 single base substitution C G downstream_gene_variant BRCA-FR 3 154029163 154029163 single base substitution C G intron_variant BRCA-FR 3 154034663 154034663 single base substitution G T intron_variant BRCA-FR 3 154034663 154034663 single base substitution G T upstream_gene_variant BRCA-FR 3 154038717 154038717 single base substitution C T intron_variant BRCA-FR 3 154038717 154038717 single base substitution C T upstream_gene_variant BRCA-UK 3 153985439 153985439 single base substitution G C downstream_gene_variant BRCA-UK 3 154002860 154002860 single base substitution C A intron_variant BRCA-UK 3 154002860 154002860 single base substitution C A upstream_gene_variant BRCA-UK 3 154026797 154026797 single base substitution C G downstream_gene_variant BRCA-UK 3 154026797 154026797 single base substitution C G intron_variant BRCA-UK 3 154026797 154026797 single base substitution C G upstream_gene_variant BRCA-UK 3 154045274 154045274 single base substitution G C upstream_gene_variant BRCA-US 3 153994016 153994016 single base substitution C T downstream_gene_variant BRCA-US 3 153994016 153994016 single base substitution C T exon_variant BRCA-US 3 153994016 153994016 single base substitution C T missense_variant E962K 2884G>A BRCA-US 3 153994016 153994016 single base substitution C T missense_variant E977K 2929G>A BRCA-US 3 153994016 153994016 single base substitution C T missense_variant E991K 2971G>A BRCA-US 3 153995455 153995455 single base substitution C T 3_prime_UTR_variant BRCA-US 3 153995455 153995455 single base substitution C T downstream_gene_variant BRCA-US 3 153995455 153995455 single base substitution C T exon_variant BRCA-US 3 153995455 153995455 single base substitution C T missense_variant V788I 2362G>A BRCA-US 3 153995455 153995455 single base substitution C T missense_variant V845I 2533G>A BRCA-US 3 153995455 153995455 single base substitution C T missense_variant V860I 2578G>A BRCA-US 3 153995455 153995455 single base substitution C T missense_variant V874I 2620G>A BRCA-US 3 153998628 153998628 single base substitution C G downstream_gene_variant BRCA-US 3 153998628 153998628 single base substitution C G exon_variant BRCA-US 3 153998628 153998628 single base substitution C G intron_variant BRCA-US 3 153998628 153998628 single base substitution C G missense_variant Q714H 2142G>C BRCA-US 3 153998628 153998628 single base substitution C G missense_variant Q771H 2313G>C BRCA-US 3 153998628 153998628 single base substitution C G missense_variant Q786H 2358G>C BRCA-US 3 153998628 153998628 single base substitution C G missense_variant Q800H 2400G>C BRCA-US 3 153998628 153998628 single base substitution C G upstream_gene_variant BRCA-US 3 154033877 154033877 single base substitution C T exon_variant BRCA-US 3 154033877 154033877 single base substitution C T missense_variant D107N 319G>A BRCA-US 3 154033877 154033877 single base substitution C T missense_variant D21N 61G>A BRCA-US 3 154033877 154033877 single base substitution C T upstream_gene_variant BRCA-US 3 154042066 154042066 single base substitution C T missense_variant R47Q 140G>A BRCA-US 3 154042066 154042066 single base substitution C T upstream_gene_variant BTCA-JP 3 154002358 154002358 deletion of <=200bp T - downstream_gene_variant BTCA-JP 3 154002358 154002358 deletion of <=200bp T - intron_variant BTCA-JP 3 154002358 154002358 deletion of <=200bp T - upstream_gene_variant BTCA-JP 3 154006631 154006631 insertion of <=200bp - A intron_variant BTCA-JP 3 154006631 154006631 insertion of <=200bp - A upstream_gene_variant BTCA-JP 3 154007619 154007619 deletion of <=200bp A - splice_region_variant BTCA-JP 3 154007619 154007619 deletion of <=200bp A - upstream_gene_variant BTCA-JP 3 154012984 154012984 deletion of <=200bp A - intron_variant BTCA-JP 3 154012984 154012984 deletion of <=200bp A - upstream_gene_variant BTCA-JP 3 154018406 154018406 single base substitution G A downstream_gene_variant BTCA-JP 3 154018406 154018406 single base substitution G A stop_gained R394* 1180C>T BTCA-JP 3 154018406 154018406 single base substitution G A stop_gained R480* 1438C>T BTCA-JP 3 154027395 154027395 single base substitution G A downstream_gene_variant BTCA-JP 3 154027395 154027395 single base substitution G A intron_variant BTCA-JP 3 154027395 154027395 single base substitution G A upstream_gene_variant BTCA-JP 3 154029262 154029262 single base substitution T C downstream_gene_variant BTCA-JP 3 154029262 154029262 single base substitution T C intron_variant BTCA-JP 3 154029366 154029366 insertion of <=200bp - A downstream_gene_variant BTCA-JP 3 154029366 154029366 insertion of <=200bp - A intron_variant BTCA-JP 3 154042089 154042089 single base substitution G T synonymous_variant G39G 117C>A BTCA-JP 3 154042089 154042089 single base substitution G T upstream_gene_variant CESC-US 3 154006737 154006737 single base substitution C T exon_variant CESC-US 3 154006737 154006737 single base substitution C T intron_variant CESC-US 3 154006737 154006737 single base substitution C T missense_variant G564E 1691G>A CESC-US 3 154006737 154006737 single base substitution C T missense_variant G636E 1907G>A CESC-US 3 154006737 154006737 single base substitution C T missense_variant G650E 1949G>A CESC-US 3 154006737 154006737 single base substitution C T upstream_gene_variant CESC-US 3 154018864 154018864 single base substitution G A downstream_gene_variant CESC-US 3 154018864 154018864 single base substitution G A stop_gained Q338* 1012C>T CESC-US 3 154018864 154018864 single base substitution G A stop_gained Q424* 1270C>T CESC-US 3 154024010 154024010 single base substitution G T downstream_gene_variant CESC-US 3 154024010 154024010 single base substitution G T synonymous_variant L210L 630C>A CESC-US 3 154024010 154024010 single base substitution G T synonymous_variant L296L 888C>A CESC-US 3 154024010 154024010 single base substitution G T upstream_gene_variant CLLE-ES 3 153996261 153996261 single base substitution T C downstream_gene_variant CLLE-ES 3 153996261 153996261 single base substitution T C intron_variant CLLE-ES 3 153996261 153996261 single base substitution T C upstream_gene_variant CLLE-ES 3 153996272 153996272 single base substitution T C downstream_gene_variant CLLE-ES 3 153996272 153996272 single base substitution T C intron_variant CLLE-ES 3 153996272 153996272 single base substitution T C upstream_gene_variant CLLE-ES 3 154003041 154003041 single base substitution T C intron_variant CLLE-ES 3 154003041 154003041 single base substitution T C upstream_gene_variant CLLE-ES 3 154015815 154015815 single base substitution T C intron_variant CLLE-ES 3 154015815 154015815 single base substitution T C upstream_gene_variant CLLE-ES 3 154020817 154020817 single base substitution G A downstream_gene_variant CLLE-ES 3 154020817 154020817 single base substitution G A intron_variant CLLE-ES 3 154022038 154022038 single base substitution G C intron_variant CLLE-ES 3 154032848 154032848 single base substitution T C exon_variant CLLE-ES 3 154032848 154032848 single base substitution T C missense_variant Y111C 332A>G CLLE-ES 3 154032848 154032848 single base substitution T C missense_variant Y197C 590A>G CLLE-ES 3 154032848 154032848 single base substitution T C upstream_gene_variant CLLE-ES 3 154047280 154047280 single base substitution C A upstream_gene_variant COAD-US 3 153998375 153998375 deletion of <=200bp T - 3_prime_UTR_variant COAD-US 3 153998375 153998375 deletion of <=200bp T - downstream_gene_variant COAD-US 3 153998375 153998375 deletion of <=200bp T - exon_variant COAD-US 3 153998375 153998375 deletion of <=200bp T - frameshift_variant R768 COAD-US 3 153998375 153998375 deletion of <=200bp T - frameshift_variant R825 COAD-US 3 153998375 153998375 deletion of <=200bp T - frameshift_variant R840 COAD-US 3 153998375 153998375 deletion of <=200bp T - frameshift_variant R854 COAD-US 3 153998375 153998375 deletion of <=200bp T - upstream_gene_variant COAD-US 3 154001024 154001024 single base substitution C T downstream_gene_variant COAD-US 3 154001024 154001024 single base substitution C T exon_variant COAD-US 3 154001024 154001024 single base substitution C T missense_variant E691K 2071G>A COAD-US 3 154001024 154001024 single base substitution C T missense_variant E748K 2242G>A COAD-US 3 154001024 154001024 single base substitution C T missense_variant E763K 2287G>A COAD-US 3 154001024 154001024 single base substitution C T missense_variant E777K 2329G>A COAD-US 3 154001024 154001024 single base substitution C T upstream_gene_variant COAD-US 3 154001025 154001025 single base substitution G A downstream_gene_variant COAD-US 3 154001025 154001025 single base substitution G A exon_variant COAD-US 3 154001025 154001025 single base substitution G A synonymous_variant Y690Y 2070C>T COAD-US 3 154001025 154001025 single base substitution G A synonymous_variant Y747Y 2241C>T COAD-US 3 154001025 154001025 single base substitution G A synonymous_variant Y762Y 2286C>T COAD-US 3 154001025 154001025 single base substitution G A synonymous_variant Y776Y 2328C>T COAD-US 3 154001025 154001025 single base substitution G A upstream_gene_variant COAD-US 3 154002694 154002694 insertion of <=200bp - T exon_variant COAD-US 3 154002694 154002694 insertion of <=200bp - T frameshift_variant M151I? COAD-US 3 154002694 154002694 insertion of <=200bp - T frameshift_variant M619I? COAD-US 3 154002694 154002694 insertion of <=200bp - T frameshift_variant M691I? COAD-US 3 154002694 154002694 insertion of <=200bp - T frameshift_variant M705I? COAD-US 3 154002694 154002694 insertion of <=200bp - T upstream_gene_variant COAD-US 3 154010469 154010469 single base substitution T C missense_variant D41G 122A>G COAD-US 3 154010469 154010469 single base substitution T C missense_variant D476G 1427A>G COAD-US 3 154010469 154010469 single base substitution T C missense_variant D548G 1643A>G COAD-US 3 154010469 154010469 single base substitution T C missense_variant D562G 1685A>G COAD-US 3 154010469 154010469 single base substitution T C upstream_gene_variant COAD-US 3 154013085 154013085 single base substitution A G intron_variant COAD-US 3 154013085 154013085 single base substitution A G splice_region_variant COAD-US 3 154013085 154013085 single base substitution A G synonymous_variant V10V 30T>C COAD-US 3 154013085 154013085 single base substitution A G synonymous_variant V445V 1335T>C COAD-US 3 154013085 154013085 single base substitution A G synonymous_variant V531V 1593T>C COAD-US 3 154013085 154013085 single base substitution A G upstream_gene_variant COAD-US 3 154018887 154018887 single base substitution G C downstream_gene_variant COAD-US 3 154018887 154018887 single base substitution G C missense_variant S330C 989C>G COAD-US 3 154018887 154018887 single base substitution G C missense_variant S416C 1247C>G COAD-US 3 154024012 154024012 single base substitution G A downstream_gene_variant COAD-US 3 154024012 154024012 single base substitution G A missense_variant L210F 628C>T COAD-US 3 154024012 154024012 single base substitution G A missense_variant L296F 886C>T COAD-US 3 154024012 154024012 single base substitution G A upstream_gene_variant COAD-US 3 154032839 154032839 single base substitution A G exon_variant COAD-US 3 154032839 154032839 single base substitution A G missense_variant M114T 341T>C COAD-US 3 154032839 154032839 single base substitution A G missense_variant M200T 599T>C COAD-US 3 154032839 154032839 single base substitution A G upstream_gene_variant COAD-US 3 154032852 154032852 single base substitution G A exon_variant COAD-US 3 154032852 154032852 single base substitution G A missense_variant R110W 328C>T COAD-US 3 154032852 154032852 single base substitution G A missense_variant R196W 586C>T COAD-US 3 154032852 154032852 single base substitution G A upstream_gene_variant COAD-US 3 154042124 154042124 single base substitution C A missense_variant G28W 82G>T COAD-US 3 154042124 154042124 single base substitution C A upstream_gene_variant COCA-CN 3 153994125 153994125 single base substitution A G downstream_gene_variant COCA-CN 3 153994125 153994125 single base substitution A G exon_variant COCA-CN 3 153994125 153994125 single base substitution A G synonymous_variant D925D 2775T>C COCA-CN 3 153994125 153994125 single base substitution A G synonymous_variant D940D 2820T>C COCA-CN 3 153994125 153994125 single base substitution A G synonymous_variant D954D 2862T>C COCA-CN 3 153998821 153998821 single base substitution T C downstream_gene_variant COCA-CN 3 153998821 153998821 single base substitution T C intron_variant COCA-CN 3 153998821 153998821 single base substitution T C upstream_gene_variant COCA-CN 3 154001099 154001099 single base substitution G A downstream_gene_variant COCA-CN 3 154001099 154001099 single base substitution G A intron_variant COCA-CN 3 154001099 154001099 single base substitution G A upstream_gene_variant COCA-CN 3 154002358 154002358 single base substitution T A downstream_gene_variant COCA-CN 3 154002358 154002358 single base substitution T A intron_variant COCA-CN 3 154002358 154002358 single base substitution T A upstream_gene_variant COCA-CN 3 154002378 154002378 single base substitution C T downstream_gene_variant COCA-CN 3 154002378 154002378 single base substitution C T exon_variant COCA-CN 3 154002378 154002378 single base substitution C T intron_variant COCA-CN 3 154002378 154002378 single base substitution C T synonymous_variant A676A 2028G>A COCA-CN 3 154002378 154002378 single base substitution C T synonymous_variant A748A 2244G>A COCA-CN 3 154002378 154002378 single base substitution C T synonymous_variant A762A 2286G>A COCA-CN 3 154002378 154002378 single base substitution C T upstream_gene_variant COCA-CN 3 154002775 154002775 single base substitution T C exon_variant COCA-CN 3 154002775 154002775 single base substitution T C missense_variant N124S 371A>G COCA-CN 3 154002775 154002775 single base substitution T C missense_variant N592S 1775A>G COCA-CN 3 154002775 154002775 single base substitution T C missense_variant N664S 1991A>G COCA-CN 3 154002775 154002775 single base substitution T C missense_variant N678S 2033A>G COCA-CN 3 154002775 154002775 single base substitution T C splice_region_variant COCA-CN 3 154002775 154002775 single base substitution T C upstream_gene_variant COCA-CN 3 154011591 154011591 single base substitution C A missense_variant R18I 53G>T COCA-CN 3 154011591 154011591 single base substitution C A missense_variant R453I 1358G>T COCA-CN 3 154011591 154011591 single base substitution C A missense_variant R525I 1574G>T COCA-CN 3 154011591 154011591 single base substitution C A missense_variant R539I 1616G>T COCA-CN 3 154011591 154011591 single base substitution C A upstream_gene_variant COCA-CN 3 154018655 154018655 single base substitution C T downstream_gene_variant COCA-CN 3 154018655 154018655 single base substitution C T intron_variant COCA-CN 3 154018933 154018933 single base substitution C A downstream_gene_variant COCA-CN 3 154018933 154018933 single base substitution C A intron_variant COCA-CN 3 154022790 154022790 single base substitution T G downstream_gene_variant COCA-CN 3 154022790 154022790 single base substitution T G intron_variant COCA-CN 3 154022996 154022996 single base substitution C A downstream_gene_variant COCA-CN 3 154022996 154022996 single base substitution C A exon_variant COCA-CN 3 154022996 154022996 single base substitution C A intron_variant COCA-CN 3 154024165 154024165 single base substitution T C downstream_gene_variant COCA-CN 3 154024165 154024165 single base substitution T C intron_variant COCA-CN 3 154024165 154024165 single base substitution T C upstream_gene_variant COCA-CN 3 154033003 154033003 single base substitution C A exon_variant COCA-CN 3 154033003 154033003 single base substitution C A missense_variant K145N 435G>T COCA-CN 3 154033003 154033003 single base substitution C A missense_variant K59N 177G>T COCA-CN 3 154033003 154033003 single base substitution C A upstream_gene_variant COCA-CN 3 154033085 154033085 single base substitution A C intron_variant COCA-CN 3 154033085 154033085 single base substitution A C upstream_gene_variant EOPC-DE 3 153989400 153989400 single base substitution A C downstream_gene_variant ESAD-UK 3 153986505 153986505 single base substitution A G downstream_gene_variant ESAD-UK 3 153988648 153988648 single base substitution G A downstream_gene_variant ESAD-UK 3 153989645 153989645 single base substitution A C downstream_gene_variant ESAD-UK 3 153990845 153990845 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 153990845 153990845 single base substitution C T downstream_gene_variant ESAD-UK 3 153990874 153990874 single base substitution T A 3_prime_UTR_variant ESAD-UK 3 153990874 153990874 single base substitution T A downstream_gene_variant ESAD-UK 3 153991304 153991304 deletion of <=200bp A - 3_prime_UTR_variant ESAD-UK 3 153991304 153991304 deletion of <=200bp A - downstream_gene_variant ESAD-UK 3 153991479 153991479 single base substitution G A 3_prime_UTR_variant ESAD-UK 3 153991479 153991479 single base substitution G A downstream_gene_variant ESAD-UK 3 153992041 153992041 single base substitution G T 3_prime_UTR_variant ESAD-UK 3 153992041 153992041 single base substitution G T downstream_gene_variant ESAD-UK 3 153994052 153994052 single base substitution C T downstream_gene_variant ESAD-UK 3 153994052 153994052 single base substitution C T exon_variant ESAD-UK 3 153994052 153994052 single base substitution C T missense_variant V950I 2848G>A ESAD-UK 3 153994052 153994052 single base substitution C T missense_variant V965I 2893G>A ESAD-UK 3 153994052 153994052 single base substitution C T missense_variant V979I 2935G>A ESAD-UK 3 153994980 153994980 single base substitution T G downstream_gene_variant ESAD-UK 3 153994980 153994980 single base substitution T G intron_variant ESAD-UK 3 153995237 153995237 single base substitution G T downstream_gene_variant ESAD-UK 3 153995237 153995237 single base substitution G T intron_variant ESAD-UK 3 153995291 153995291 single base substitution A C downstream_gene_variant ESAD-UK 3 153995291 153995291 single base substitution A C intron_variant ESAD-UK 3 153995299 153995299 single base substitution T A downstream_gene_variant ESAD-UK 3 153995299 153995299 single base substitution T A intron_variant ESAD-UK 3 153996011 153996011 single base substitution A C downstream_gene_variant ESAD-UK 3 153996011 153996011 single base substitution A C intron_variant ESAD-UK 3 153996011 153996011 single base substitution A C upstream_gene_variant ESAD-UK 3 153996015 153996015 single base substitution G T downstream_gene_variant ESAD-UK 3 153996015 153996015 single base substitution G T intron_variant ESAD-UK 3 153996015 153996015 single base substitution G T upstream_gene_variant ESAD-UK 3 153996564 153996564 single base substitution C T exon_variant ESAD-UK 3 153996564 153996564 single base substitution C T intron_variant ESAD-UK 3 153996564 153996564 single base substitution C T upstream_gene_variant ESAD-UK 3 153996627 153996627 single base substitution G C exon_variant ESAD-UK 3 153996627 153996627 single base substitution G C intron_variant ESAD-UK 3 153996627 153996627 single base substitution G C upstream_gene_variant ESAD-UK 3 153996683 153996683 single base substitution A G exon_variant ESAD-UK 3 153996683 153996683 single base substitution A G intron_variant ESAD-UK 3 153996683 153996683 single base substitution A G upstream_gene_variant ESAD-UK 3 153996882 153996882 single base substitution T C exon_variant ESAD-UK 3 153996882 153996882 single base substitution T C intron_variant ESAD-UK 3 153996882 153996882 single base substitution T C upstream_gene_variant ESAD-UK 3 153997750 153997750 single base substitution C G downstream_gene_variant ESAD-UK 3 153997750 153997750 single base substitution C G exon_variant ESAD-UK 3 153997750 153997750 single base substitution C G intron_variant ESAD-UK 3 153997750 153997750 single base substitution C G upstream_gene_variant ESAD-UK 3 153998109 153998109 single base substitution T G downstream_gene_variant ESAD-UK 3 153998109 153998109 single base substitution T G exon_variant ESAD-UK 3 153998109 153998109 single base substitution T G intron_variant ESAD-UK 3 153998109 153998109 single base substitution T G upstream_gene_variant ESAD-UK 3 153998185 153998185 single base substitution T C downstream_gene_variant ESAD-UK 3 153998185 153998185 single base substitution T C exon_variant ESAD-UK 3 153998185 153998185 single base substitution T C intron_variant ESAD-UK 3 153998185 153998185 single base substitution T C upstream_gene_variant ESAD-UK 3 153999165 153999165 single base substitution T A downstream_gene_variant ESAD-UK 3 153999165 153999165 single base substitution T A intron_variant ESAD-UK 3 153999165 153999165 single base substitution T A upstream_gene_variant ESAD-UK 3 153999266 153999266 single base substitution C G downstream_gene_variant ESAD-UK 3 153999266 153999266 single base substitution C G intron_variant ESAD-UK 3 153999266 153999266 single base substitution C G upstream_gene_variant ESAD-UK 3 154000348 154000348 single base substitution G A downstream_gene_variant ESAD-UK 3 154000348 154000348 single base substitution G A intron_variant ESAD-UK 3 154000348 154000348 single base substitution G A upstream_gene_variant ESAD-UK 3 154001403 154001403 single base substitution C G downstream_gene_variant ESAD-UK 3 154001403 154001403 single base substitution C G intron_variant ESAD-UK 3 154001403 154001403 single base substitution C G upstream_gene_variant ESAD-UK 3 154004520 154004520 single base substitution A G intron_variant ESAD-UK 3 154004520 154004520 single base substitution A G upstream_gene_variant ESAD-UK 3 154004582 154004582 single base substitution C T intron_variant ESAD-UK 3 154004582 154004582 single base substitution C T upstream_gene_variant ESAD-UK 3 154005328 154005328 single base substitution C T intron_variant ESAD-UK 3 154005328 154005328 single base substitution C T upstream_gene_variant ESAD-UK 3 154006083 154006083 single base substitution C T intron_variant ESAD-UK 3 154006083 154006083 single base substitution C T upstream_gene_variant ESAD-UK 3 154006145 154006145 single base substitution C T intron_variant ESAD-UK 3 154006145 154006145 single base substitution C T upstream_gene_variant ESAD-UK 3 154009418 154009418 single base substitution T G intron_variant ESAD-UK 3 154009942 154009942 single base substitution G A intron_variant ESAD-UK 3 154010780 154010780 single base substitution A T intron_variant ESAD-UK 3 154010780 154010780 single base substitution A T upstream_gene_variant ESAD-UK 3 154011063 154011063 single base substitution A C intron_variant ESAD-UK 3 154011063 154011063 single base substitution A C upstream_gene_variant ESAD-UK 3 154012568 154012570 deletion of <=200bp ATT - intron_variant ESAD-UK 3 154012568 154012570 deletion of <=200bp ATT - upstream_gene_variant ESAD-UK 3 154013256 154013256 single base substitution T A intron_variant ESAD-UK 3 154013256 154013256 single base substitution T A upstream_gene_variant ESAD-UK 3 154013576 154013576 single base substitution G T intron_variant ESAD-UK 3 154013576 154013576 single base substitution G T upstream_gene_variant ESAD-UK 3 154014532 154014532 single base substitution A G intron_variant ESAD-UK 3 154014532 154014532 single base substitution A G upstream_gene_variant ESAD-UK 3 154014942 154014942 single base substitution C T intron_variant ESAD-UK 3 154014942 154014942 single base substitution C T upstream_gene_variant ESAD-UK 3 154017198 154017198 single base substitution A C downstream_gene_variant ESAD-UK 3 154017198 154017198 single base substitution A C intron_variant ESAD-UK 3 154017198 154017198 single base substitution A C upstream_gene_variant ESAD-UK 3 154018266 154018266 single base substitution A T downstream_gene_variant ESAD-UK 3 154018266 154018266 single base substitution A T intron_variant ESAD-UK 3 154018758 154018758 single base substitution C T downstream_gene_variant ESAD-UK 3 154018758 154018758 single base substitution C T intron_variant ESAD-UK 3 154021554 154021554 single base substitution A C intron_variant ESAD-UK 3 154022543 154022543 single base substitution T A intron_variant ESAD-UK 3 154023808 154023808 deletion of <=200bp A - downstream_gene_variant ESAD-UK 3 154023808 154023808 deletion of <=200bp A - intron_variant ESAD-UK 3 154023808 154023808 deletion of <=200bp A - upstream_gene_variant ESAD-UK 3 154023989 154023989 single base substitution A C downstream_gene_variant ESAD-UK 3 154023989 154023989 single base substitution A C intron_variant ESAD-UK 3 154023989 154023989 single base substitution A C upstream_gene_variant ESAD-UK 3 154024014 154024014 single base substitution C T downstream_gene_variant ESAD-UK 3 154024014 154024014 single base substitution C T missense_variant R209H 626G>A ESAD-UK 3 154024014 154024014 single base substitution C T missense_variant R295H 884G>A ESAD-UK 3 154024014 154024014 single base substitution C T upstream_gene_variant ESAD-UK 3 154024050 154024050 single base substitution G A downstream_gene_variant ESAD-UK 3 154024050 154024050 single base substitution G A missense_variant S197F 590C>T ESAD-UK 3 154024050 154024050 single base substitution G A missense_variant S283F 848C>T ESAD-UK 3 154024050 154024050 single base substitution G A upstream_gene_variant ESAD-UK 3 154024687 154024687 single base substitution A C downstream_gene_variant ESAD-UK 3 154024687 154024687 single base substitution A C intron_variant ESAD-UK 3 154024687 154024687 single base substitution A C upstream_gene_variant ESAD-UK 3 154025855 154025859 deletion of <=200bp AGAAG - downstream_gene_variant ESAD-UK 3 154025855 154025859 deletion of <=200bp AGAAG - intron_variant ESAD-UK 3 154025855 154025859 deletion of <=200bp AGAAG - upstream_gene_variant ESAD-UK 3 154026762 154026762 single base substitution A T downstream_gene_variant ESAD-UK 3 154026762 154026762 single base substitution A T intron_variant ESAD-UK 3 154026762 154026762 single base substitution A T upstream_gene_variant ESAD-UK 3 154027283 154027283 deletion of <=200bp T - downstream_gene_variant ESAD-UK 3 154027283 154027283 deletion of <=200bp T - intron_variant ESAD-UK 3 154027283 154027283 deletion of <=200bp T - upstream_gene_variant ESAD-UK 3 154028292 154028292 single base substitution C T downstream_gene_variant ESAD-UK 3 154028292 154028292 single base substitution C T intron_variant ESAD-UK 3 154029366 154029366 deletion of <=200bp A - downstream_gene_variant ESAD-UK 3 154029366 154029366 deletion of <=200bp A - intron_variant ESAD-UK 3 154032532 154032532 single base substitution T C exon_variant ESAD-UK 3 154032532 154032532 single base substitution T C intron_variant ESAD-UK 3 154032532 154032532 single base substitution T C upstream_gene_variant ESAD-UK 3 154033266 154033266 single base substitution G C intron_variant ESAD-UK 3 154033266 154033266 single base substitution G C upstream_gene_variant ESAD-UK 3 154033612 154033612 single base substitution T C intron_variant ESAD-UK 3 154033612 154033612 single base substitution T C upstream_gene_variant ESAD-UK 3 154033751 154033751 single base substitution A C intron_variant ESAD-UK 3 154033751 154033751 single base substitution A C upstream_gene_variant ESAD-UK 3 154033755 154033755 single base substitution A G intron_variant ESAD-UK 3 154033755 154033755 single base substitution A G upstream_gene_variant ESAD-UK 3 154035579 154035579 single base substitution A G intron_variant ESAD-UK 3 154037539 154037539 single base substitution A C intron_variant ESAD-UK 3 154037539 154037539 single base substitution A C upstream_gene_variant ESAD-UK 3 154038065 154038065 single base substitution C T intron_variant ESAD-UK 3 154038065 154038065 single base substitution C T upstream_gene_variant ESAD-UK 3 154039490 154039490 single base substitution G T intron_variant ESAD-UK 3 154039490 154039490 single base substitution G T upstream_gene_variant ESAD-UK 3 154040237 154040237 insertion of <=200bp - C intron_variant ESAD-UK 3 154040237 154040237 insertion of <=200bp - C upstream_gene_variant ESAD-UK 3 154041801 154041801 insertion of <=200bp - GT intron_variant ESAD-UK 3 154041801 154041801 insertion of <=200bp - GT upstream_gene_variant ESAD-UK 3 154042671 154042671 single base substitution A G upstream_gene_variant ESAD-UK 3 154043278 154043278 single base substitution T C upstream_gene_variant ESAD-UK 3 154043714 154043714 single base substitution G C upstream_gene_variant ESAD-UK 3 154043810 154043810 single base substitution T G upstream_gene_variant ESCA-CN 3 153993982 153993982 single base substitution A G downstream_gene_variant ESCA-CN 3 153993982 153993982 single base substitution A G exon_variant ESCA-CN 3 153993982 153993982 single base substitution A G missense_variant F1002S 3005T>C ESCA-CN 3 153993982 153993982 single base substitution A G missense_variant F973S 2918T>C ESCA-CN 3 153993982 153993982 single base substitution A G missense_variant F988S 2963T>C ESCA-CN 3 153994107 153994107 single base substitution C T downstream_gene_variant ESCA-CN 3 153994107 153994107 single base substitution C T exon_variant ESCA-CN 3 153994107 153994107 single base substitution C T synonymous_variant K931K 2793G>A ESCA-CN 3 153994107 153994107 single base substitution C T synonymous_variant K946K 2838G>A ESCA-CN 3 153994107 153994107 single base substitution C T synonymous_variant K960K 2880G>A ESCA-CN 3 154032977 154032977 insertion of <=200bp - T exon_variant ESCA-CN 3 154032977 154032977 insertion of <=200bp - T frameshift_variant M154I? ESCA-CN 3 154032977 154032977 insertion of <=200bp - T frameshift_variant M68I? ESCA-CN 3 154032977 154032977 insertion of <=200bp - T upstream_gene_variant KIRC-US 3 153994678 153994678 single base substitution T C downstream_gene_variant KIRC-US 3 153994678 153994678 single base substitution T C exon_variant KIRC-US 3 153994678 153994678 single base substitution T C missense_variant Y871C 2612A>G KIRC-US 3 153994678 153994678 single base substitution T C missense_variant Y886C 2657A>G KIRC-US 3 153994678 153994678 single base substitution T C missense_variant Y900C 2699A>G KIRC-US 3 154018456 154018456 single base substitution T A downstream_gene_variant KIRC-US 3 154018456 154018456 single base substitution T A missense_variant E377V 1130A>T KIRC-US 3 154018456 154018456 single base substitution T A missense_variant E463V 1388A>T KIRC-US 3 154018902 154018902 single base substitution T C downstream_gene_variant KIRC-US 3 154018902 154018902 single base substitution T C missense_variant Q325R 974A>G KIRC-US 3 154018902 154018902 single base substitution T C missense_variant Q411R 1232A>G KIRC-US 3 154018911 154018911 single base substitution A T downstream_gene_variant KIRC-US 3 154018911 154018911 single base substitution A T missense_variant V322D 965T>A KIRC-US 3 154018911 154018911 single base substitution A T missense_variant V408D 1223T>A KIRC-US 3 154022915 154022915 single base substitution T A downstream_gene_variant KIRC-US 3 154022915 154022915 single base substitution T A exon_variant KIRC-US 3 154022915 154022915 single base substitution T A synonymous_variant T226T 678A>T KIRC-US 3 154022915 154022915 single base substitution T A synonymous_variant T312T 936A>T KIRC-US 3 154033897 154033897 single base substitution T A exon_variant KIRC-US 3 154033897 154033897 single base substitution T A missense_variant N100I 299A>T KIRC-US 3 154033897 154033897 single base substitution T A missense_variant N14I 41A>T KIRC-US 3 154033897 154033897 single base substitution T A upstream_gene_variant KIRP-US 3 154006708 154006708 single base substitution C T exon_variant KIRP-US 3 154006708 154006708 single base substitution C T intron_variant KIRP-US 3 154006708 154006708 single base substitution C T missense_variant D574N 1720G>A KIRP-US 3 154006708 154006708 single base substitution C T missense_variant D646N 1936G>A KIRP-US 3 154006708 154006708 single base substitution C T missense_variant D660N 1978G>A KIRP-US 3 154006708 154006708 single base substitution C T upstream_gene_variant LAML-KR 3 154007682 154007682 single base substitution G C intron_variant LAML-KR 3 154007682 154007682 single base substitution G C upstream_gene_variant LAML-KR 3 154018990 154018990 single base substitution T C downstream_gene_variant LAML-KR 3 154018990 154018990 single base substitution T C intron_variant LAML-KR 3 154021063 154021063 single base substitution G A downstream_gene_variant LAML-KR 3 154021063 154021063 single base substitution G A intron_variant LICA-FR 3 153990405 153990405 single base substitution T C 3_prime_UTR_variant LICA-FR 3 153990405 153990405 single base substitution T C downstream_gene_variant LICA-FR 3 153996267 153996267 deletion of <=200bp T - downstream_gene_variant LICA-FR 3 153996267 153996267 deletion of <=200bp T - intron_variant LICA-FR 3 153996267 153996267 deletion of <=200bp T - upstream_gene_variant LIHC-US 3 153998561 153998561 single base substitution T C downstream_gene_variant LIHC-US 3 153998561 153998561 single base substitution T C exon_variant LIHC-US 3 153998561 153998561 single base substitution T C intron_variant LIHC-US 3 153998561 153998561 single base substitution T C missense_variant I737V 2209A>G LIHC-US 3 153998561 153998561 single base substitution T C missense_variant I794V 2380A>G LIHC-US 3 153998561 153998561 single base substitution T C missense_variant I809V 2425A>G LIHC-US 3 153998561 153998561 single base substitution T C missense_variant I823V 2467A>G LIHC-US 3 153998561 153998561 single base substitution T C upstream_gene_variant LINC-JP 3 154007444 154007444 single base substitution T C intron_variant LINC-JP 3 154007444 154007444 single base substitution T C upstream_gene_variant LINC-JP 3 154010261 154010261 single base substitution T C intron_variant LINC-JP 3 154013124 154013124 single base substitution T C intron_variant LINC-JP 3 154013124 154013124 single base substitution T C synonymous_variant K432K 1296A>G LINC-JP 3 154013124 154013124 single base substitution T C synonymous_variant K518K 1554A>G LINC-JP 3 154013124 154013124 single base substitution T C upstream_gene_variant LINC-JP 3 154018735 154018735 single base substitution T C downstream_gene_variant LINC-JP 3 154018735 154018735 single base substitution T C intron_variant LINC-JP 3 154021975 154021975 single base substitution A G intron_variant LINC-JP 3 154022694 154022694 single base substitution A C downstream_gene_variant LINC-JP 3 154022694 154022694 single base substitution A C exon_variant LINC-JP 3 154022694 154022694 single base substitution A C missense_variant L260V 778T>G LINC-JP 3 154022694 154022694 single base substitution A C missense_variant L346V 1036T>G LINC-JP 3 154027587 154027587 single base substitution T C downstream_gene_variant LINC-JP 3 154027587 154027587 single base substitution T C exon_variant LINC-JP 3 154027587 154027587 single base substitution T C missense_variant H137R 410A>G LINC-JP 3 154027587 154027587 single base substitution T C missense_variant H223R 668A>G LINC-JP 3 154027587 154027587 single base substitution T C upstream_gene_variant LINC-JP 3 154029661 154029661 single base substitution T G downstream_gene_variant LINC-JP 3 154029661 154029661 single base substitution T G exon_variant LINC-JP 3 154029661 154029661 single base substitution T G intron_variant LINC-JP 3 154030278 154030278 deletion of <=200bp A - downstream_gene_variant LINC-JP 3 154030278 154030278 deletion of <=200bp A - intron_variant LINC-JP 3 154030278 154030278 deletion of <=200bp A - upstream_gene_variant LINC-JP 3 154032563 154032563 deletion of <=200bp G - exon_variant LINC-JP 3 154032563 154032563 deletion of <=200bp G - intron_variant LINC-JP 3 154032563 154032563 deletion of <=200bp G - upstream_gene_variant LINC-JP 3 154033722 154033722 single base substitution A G intron_variant LINC-JP 3 154033722 154033722 single base substitution A G upstream_gene_variant LINC-JP 3 154034499 154034499 single base substitution G T intron_variant LINC-JP 3 154034499 154034499 single base substitution G T upstream_gene_variant LINC-JP 3 154035012 154035012 single base substitution T C intron_variant LINC-JP 3 154035012 154035012 single base substitution T C upstream_gene_variant LINC-JP 3 154041494 154041494 single base substitution T C intron_variant LINC-JP 3 154041494 154041494 single base substitution T C upstream_gene_variant LIRI-JP 3 153987636 153987636 single base substitution A C downstream_gene_variant LIRI-JP 3 153987656 153987656 single base substitution A C downstream_gene_variant LIRI-JP 3 153987664 153987664 single base substitution A C downstream_gene_variant LIRI-JP 3 153987703 153987703 single base substitution A C downstream_gene_variant LIRI-JP 3 153988115 153988115 single base substitution C G downstream_gene_variant LIRI-JP 3 153988791 153988791 single base substitution T G downstream_gene_variant LIRI-JP 3 153990399 153990399 single base substitution A G 3_prime_UTR_variant LIRI-JP 3 153990399 153990399 single base substitution A G downstream_gene_variant LIRI-JP 3 153992072 153992072 single base substitution G T 3_prime_UTR_variant LIRI-JP 3 153992072 153992072 single base substitution G T downstream_gene_variant LIRI-JP 3 153993889 153993889 single base substitution T G 3_prime_UTR_variant LIRI-JP 3 153993889 153993889 single base substitution T G downstream_gene_variant LIRI-JP 3 153993889 153993889 single base substitution T G exon_variant LIRI-JP 3 153994622 153994622 single base substitution T A downstream_gene_variant LIRI-JP 3 153994622 153994622 single base substitution T A exon_variant LIRI-JP 3 153994622 153994622 single base substitution T A missense_variant I890F 2668A>T LIRI-JP 3 153994622 153994622 single base substitution T A missense_variant I905F 2713A>T LIRI-JP 3 153994622 153994622 single base substitution T A missense_variant I919F 2755A>T LIRI-JP 3 153995049 153995049 single base substitution G A downstream_gene_variant LIRI-JP 3 153995049 153995049 single base substitution G A intron_variant LIRI-JP 3 153998281 153998281 single base substitution T A downstream_gene_variant LIRI-JP 3 153998281 153998281 single base substitution T A exon_variant LIRI-JP 3 153998281 153998281 single base substitution T A intron_variant LIRI-JP 3 153998281 153998281 single base substitution T A upstream_gene_variant LIRI-JP 3 153998570 153998570 single base substitution C A downstream_gene_variant LIRI-JP 3 153998570 153998570 single base substitution C A exon_variant LIRI-JP 3 153998570 153998570 single base substitution C A intron_variant LIRI-JP 3 153998570 153998570 single base substitution C A stop_gained E734* 2200G>T LIRI-JP 3 153998570 153998570 single base substitution C A stop_gained E791* 2371G>T LIRI-JP 3 153998570 153998570 single base substitution C A stop_gained E806* 2416G>T LIRI-JP 3 153998570 153998570 single base substitution C A stop_gained E820* 2458G>T LIRI-JP 3 153998570 153998570 single base substitution C A upstream_gene_variant LIRI-JP 3 153998600 153998600 single base substitution A G downstream_gene_variant LIRI-JP 3 153998600 153998600 single base substitution A G exon_variant LIRI-JP 3 153998600 153998600 single base substitution A G intron_variant LIRI-JP 3 153998600 153998600 single base substitution A G missense_variant F724L 2170T>C LIRI-JP 3 153998600 153998600 single base substitution A G missense_variant F781L 2341T>C LIRI-JP 3 153998600 153998600 single base substitution A G missense_variant F796L 2386T>C LIRI-JP 3 153998600 153998600 single base substitution A G missense_variant F810L 2428T>C LIRI-JP 3 153998600 153998600 single base substitution A G upstream_gene_variant LIRI-JP 3 154001471 154001471 single base substitution A C downstream_gene_variant LIRI-JP 3 154001471 154001471 single base substitution A C intron_variant LIRI-JP 3 154001471 154001471 single base substitution A C upstream_gene_variant LIRI-JP 3 154002283 154002283 single base substitution T G downstream_gene_variant LIRI-JP 3 154002283 154002283 single base substitution T G intron_variant LIRI-JP 3 154002283 154002283 single base substitution T G upstream_gene_variant LIRI-JP 3 154004602 154004602 single base substitution C A intron_variant LIRI-JP 3 154004602 154004602 single base substitution C A upstream_gene_variant LIRI-JP 3 154005028 154005028 single base substitution G A intron_variant LIRI-JP 3 154005028 154005028 single base substitution G A upstream_gene_variant LIRI-JP 3 154005545 154005545 single base substitution G A intron_variant LIRI-JP 3 154005545 154005545 single base substitution G A upstream_gene_variant LIRI-JP 3 154006588 154006588 single base substitution A G intron_variant LIRI-JP 3 154006588 154006588 single base substitution A G upstream_gene_variant LIRI-JP 3 154008506 154008506 single base substitution T C intron_variant LIRI-JP 3 154009805 154009805 single base substitution A C intron_variant LIRI-JP 3 154011746 154011746 single base substitution T C intron_variant LIRI-JP 3 154011746 154011746 single base substitution T C upstream_gene_variant LIRI-JP 3 154013232 154013232 single base substitution T C intron_variant LIRI-JP 3 154013232 154013232 single base substitution T C upstream_gene_variant LIRI-JP 3 154015967 154015967 single base substitution A G intron_variant LIRI-JP 3 154015967 154015967 single base substitution A G upstream_gene_variant LIRI-JP 3 154017199 154017199 single base substitution T A downstream_gene_variant LIRI-JP 3 154017199 154017199 single base substitution T A intron_variant LIRI-JP 3 154017199 154017199 single base substitution T A upstream_gene_variant LIRI-JP 3 154017847 154017847 single base substitution T C downstream_gene_variant LIRI-JP 3 154017847 154017847 single base substitution T C intron_variant LIRI-JP 3 154017847 154017847 single base substitution T C upstream_gene_variant LIRI-JP 3 154018649 154018649 single base substitution T G downstream_gene_variant LIRI-JP 3 154018649 154018649 single base substitution T G intron_variant LIRI-JP 3 154018809 154018809 single base substitution C T downstream_gene_variant LIRI-JP 3 154018809 154018809 single base substitution C T missense_variant R356H 1067G>A LIRI-JP 3 154018809 154018809 single base substitution C T missense_variant R442H 1325G>A LIRI-JP 3 154019958 154019958 single base substitution G T downstream_gene_variant LIRI-JP 3 154019958 154019958 single base substitution G T intron_variant LIRI-JP 3 154022179 154022179 single base substitution T C intron_variant LIRI-JP 3 154022453 154022458 deletion of <=200bp TGAAAC - intron_variant LIRI-JP 3 154024679 154024679 single base substitution T C downstream_gene_variant LIRI-JP 3 154024679 154024679 single base substitution T C intron_variant LIRI-JP 3 154024679 154024679 single base substitution T C upstream_gene_variant LIRI-JP 3 154025166 154025166 single base substitution T A downstream_gene_variant LIRI-JP 3 154025166 154025166 single base substitution T A intron_variant LIRI-JP 3 154025166 154025166 single base substitution T A upstream_gene_variant LIRI-JP 3 154026154 154026154 single base substitution A T downstream_gene_variant LIRI-JP 3 154026154 154026154 single base substitution A T intron_variant LIRI-JP 3 154026154 154026154 single base substitution A T upstream_gene_variant LIRI-JP 3 154026260 154026260 single base substitution T A downstream_gene_variant LIRI-JP 3 154026260 154026260 single base substitution T A intron_variant LIRI-JP 3 154026260 154026260 single base substitution T A upstream_gene_variant LIRI-JP 3 154026536 154026536 single base substitution C A downstream_gene_variant LIRI-JP 3 154026536 154026536 single base substitution C A intron_variant LIRI-JP 3 154026536 154026536 single base substitution C A upstream_gene_variant LIRI-JP 3 154027810 154027810 single base substitution G C downstream_gene_variant LIRI-JP 3 154027810 154027810 single base substitution G C intron_variant LIRI-JP 3 154027810 154027810 single base substitution G C upstream_gene_variant LIRI-JP 3 154028089 154028089 single base substitution T G downstream_gene_variant LIRI-JP 3 154028089 154028089 single base substitution T G intron_variant LIRI-JP 3 154028089 154028089 single base substitution T G upstream_gene_variant LIRI-JP 3 154028141 154028141 single base substitution T A downstream_gene_variant LIRI-JP 3 154028141 154028141 single base substitution T A intron_variant LIRI-JP 3 154029392 154029392 single base substitution A C downstream_gene_variant LIRI-JP 3 154029392 154029392 single base substitution A C intron_variant LIRI-JP 3 154029783 154029783 single base substitution T C downstream_gene_variant LIRI-JP 3 154029783 154029783 single base substitution T C exon_variant LIRI-JP 3 154029783 154029783 single base substitution T C intron_variant LIRI-JP 3 154029807 154029807 single base substitution T C downstream_gene_variant LIRI-JP 3 154029807 154029807 single base substitution T C exon_variant LIRI-JP 3 154029807 154029807 single base substitution T C intron_variant LIRI-JP 3 154031827 154031827 single base substitution G C downstream_gene_variant LIRI-JP 3 154031827 154031827 single base substitution G C intron_variant LIRI-JP 3 154031827 154031827 single base substitution G C upstream_gene_variant LIRI-JP 3 154033668 154033668 single base substitution T C intron_variant LIRI-JP 3 154033668 154033668 single base substitution T C upstream_gene_variant LIRI-JP 3 154034730 154034730 single base substitution A C intron_variant LIRI-JP 3 154034730 154034730 single base substitution A C upstream_gene_variant LIRI-JP 3 154035774 154035774 single base substitution G C intron_variant LIRI-JP 3 154036069 154036069 single base substitution T C intron_variant LIRI-JP 3 154036842 154036842 single base substitution T C intron_variant LIRI-JP 3 154038300 154038300 single base substitution C A intron_variant LIRI-JP 3 154038300 154038300 single base substitution C A upstream_gene_variant LIRI-JP 3 154039205 154039205 single base substitution C T intron_variant LIRI-JP 3 154039205 154039205 single base substitution C T upstream_gene_variant LIRI-JP 3 154039423 154039423 single base substitution G C intron_variant LIRI-JP 3 154039423 154039423 single base substitution G C upstream_gene_variant LIRI-JP 3 154039445 154039473 deletion of <=200bp CATTAGAATGCATTCATTTTCAGCCAGGC - intron_variant LIRI-JP 3 154039445 154039473 deletion of <=200bp CATTAGAATGCATTCATTTTCAGCCAGGC - upstream_gene_variant LIRI-JP 3 154041166 154041166 single base substitution T C intron_variant LIRI-JP 3 154041166 154041166 single base substitution T C upstream_gene_variant LIRI-JP 3 154042518 154042518 single base substitution T C upstream_gene_variant LIRI-JP 3 154043549 154043549 single base substitution A G upstream_gene_variant LIRI-JP 3 154044299 154044299 single base substitution G T upstream_gene_variant LIRI-JP 3 154044667 154044667 single base substitution A T upstream_gene_variant LIRI-JP 3 154045086 154045086 single base substitution A G upstream_gene_variant LIRI-JP 3 154045300 154045300 single base substitution G T upstream_gene_variant LIRI-JP 3 154045396 154045396 single base substitution C T upstream_gene_variant LIRI-JP 3 154046036 154046036 single base substitution C A upstream_gene_variant LIRI-JP 3 154046612 154046612 single base substitution G T upstream_gene_variant LUSC-CN 3 154000997 154000997 single base substitution G C downstream_gene_variant LUSC-CN 3 154000997 154000997 single base substitution G C exon_variant LUSC-CN 3 154000997 154000997 single base substitution G C missense_variant L700V 2098C>G LUSC-CN 3 154000997 154000997 single base substitution G C missense_variant L757V 2269C>G LUSC-CN 3 154000997 154000997 single base substitution G C missense_variant L772V 2314C>G LUSC-CN 3 154000997 154000997 single base substitution G C missense_variant L786V 2356C>G LUSC-KR 3 154002857 154002857 single base substitution T A intron_variant LUSC-KR 3 154002857 154002857 single base substitution T A upstream_gene_variant LUSC-KR 3 154002860 154002860 single base substitution C A intron_variant LUSC-KR 3 154002860 154002860 single base substitution C A upstream_gene_variant LUSC-KR 3 154005959 154005959 single base substitution G A intron_variant LUSC-KR 3 154005959 154005959 single base substitution G A upstream_gene_variant LUSC-KR 3 154008690 154008690 single base substitution G A intron_variant LUSC-KR 3 154012913 154012913 single base substitution C A intron_variant LUSC-KR 3 154012913 154012913 single base substitution C A upstream_gene_variant LUSC-KR 3 154013626 154013626 single base substitution T G intron_variant LUSC-KR 3 154013626 154013626 single base substitution T G upstream_gene_variant LUSC-KR 3 154018575 154018575 single base substitution T C downstream_gene_variant LUSC-KR 3 154018575 154018575 single base substitution T C intron_variant LUSC-KR 3 154018887 154018887 single base substitution G C downstream_gene_variant LUSC-KR 3 154018887 154018887 single base substitution G C missense_variant S330C 989C>G LUSC-KR 3 154018887 154018887 single base substitution G C missense_variant S416C 1247C>G LUSC-KR 3 154021063 154021063 single base substitution G A downstream_gene_variant LUSC-KR 3 154021063 154021063 single base substitution G A intron_variant LUSC-KR 3 154024165 154024165 single base substitution T C downstream_gene_variant LUSC-KR 3 154024165 154024165 single base substitution T C intron_variant LUSC-KR 3 154024165 154024165 single base substitution T C upstream_gene_variant LUSC-KR 3 154024228 154024228 single base substitution C A downstream_gene_variant LUSC-KR 3 154024228 154024228 single base substitution C A intron_variant LUSC-KR 3 154024228 154024228 single base substitution C A upstream_gene_variant LUSC-KR 3 154025921 154025921 single base substitution G T downstream_gene_variant LUSC-KR 3 154025921 154025921 single base substitution G T intron_variant LUSC-KR 3 154025921 154025921 single base substitution G T upstream_gene_variant LUSC-KR 3 154028494 154028494 single base substitution G C downstream_gene_variant LUSC-KR 3 154028494 154028494 single base substitution G C intron_variant LUSC-KR 3 154028822 154028822 single base substitution T A downstream_gene_variant LUSC-KR 3 154028822 154028822 single base substitution T A intron_variant LUSC-KR 3 154028843 154028843 single base substitution G C downstream_gene_variant LUSC-KR 3 154028843 154028843 single base substitution G C intron_variant LUSC-KR 3 154029652 154029652 single base substitution G C downstream_gene_variant LUSC-KR 3 154029652 154029652 single base substitution G C exon_variant LUSC-KR 3 154029652 154029652 single base substitution G C intron_variant LUSC-KR 3 154031487 154031487 single base substitution A G downstream_gene_variant LUSC-KR 3 154031487 154031487 single base substitution A G intron_variant LUSC-KR 3 154031487 154031487 single base substitution A G upstream_gene_variant LUSC-KR 3 154031990 154031990 single base substitution C T downstream_gene_variant LUSC-KR 3 154031990 154031990 single base substitution C T intron_variant LUSC-KR 3 154031990 154031990 single base substitution C T upstream_gene_variant LUSC-KR 3 154037255 154037255 single base substitution C G intron_variant LUSC-KR 3 154037255 154037255 single base substitution C G upstream_gene_variant LUSC-KR 3 154037303 154037303 single base substitution C T intron_variant LUSC-KR 3 154037303 154037303 single base substitution C T upstream_gene_variant LUSC-KR 3 154038413 154038413 single base substitution A G intron_variant LUSC-KR 3 154038413 154038413 single base substitution A G upstream_gene_variant LUSC-KR 3 154038585 154038585 single base substitution C A intron_variant LUSC-KR 3 154038585 154038585 single base substitution C A upstream_gene_variant LUSC-KR 3 154041116 154041116 single base substitution C G intron_variant LUSC-KR 3 154041116 154041116 single base substitution C G upstream_gene_variant LUSC-KR 3 154044436 154044436 single base substitution G A upstream_gene_variant LUSC-US 3 154001039 154001039 single base substitution G A downstream_gene_variant LUSC-US 3 154001039 154001039 single base substitution G A exon_variant LUSC-US 3 154001039 154001039 single base substitution G A missense_variant R686C 2056C>T LUSC-US 3 154001039 154001039 single base substitution G A missense_variant R743C 2227C>T LUSC-US 3 154001039 154001039 single base substitution G A missense_variant R758C 2272C>T LUSC-US 3 154001039 154001039 single base substitution G A missense_variant R772C 2314C>T LUSC-US 3 154001039 154001039 single base substitution G A upstream_gene_variant LUSC-US 3 154010470 154010470 single base substitution C T missense_variant D41N 121G>A LUSC-US 3 154010470 154010470 single base substitution C T missense_variant D476N 1426G>A LUSC-US 3 154010470 154010470 single base substitution C T missense_variant D548N 1642G>A LUSC-US 3 154010470 154010470 single base substitution C T missense_variant D562N 1684G>A LUSC-US 3 154010470 154010470 single base substitution C T upstream_gene_variant LUSC-US 3 154017707 154017707 single base substitution G A downstream_gene_variant LUSC-US 3 154017707 154017707 single base substitution G A missense_variant A404V 1211C>T LUSC-US 3 154017707 154017707 single base substitution G A missense_variant A490V 1469C>T LUSC-US 3 154017707 154017707 single base substitution G A upstream_gene_variant LUSC-US 3 154024045 154024045 single base substitution C A downstream_gene_variant LUSC-US 3 154024045 154024045 single base substitution C A missense_variant G199C 595G>T LUSC-US 3 154024045 154024045 single base substitution C A missense_variant G285C 853G>T LUSC-US 3 154024045 154024045 single base substitution C A upstream_gene_variant MALY-DE 3 153988310 153988310 single base substitution A G downstream_gene_variant MALY-DE 3 153989411 153989411 single base substitution T C downstream_gene_variant MALY-DE 3 154007464 154007464 single base substitution C T intron_variant MALY-DE 3 154007464 154007464 single base substitution C T upstream_gene_variant MALY-DE 3 154010479 154010479 single base substitution T C missense_variant T38A 112A>G MALY-DE 3 154010479 154010479 single base substitution T C missense_variant T473A 1417A>G MALY-DE 3 154010479 154010479 single base substitution T C missense_variant T545A 1633A>G MALY-DE 3 154010479 154010479 single base substitution T C missense_variant T559A 1675A>G MALY-DE 3 154010479 154010479 single base substitution T C upstream_gene_variant MALY-DE 3 154010516 154010517 deletion of <=200bp AC - intron_variant MALY-DE 3 154010516 154010517 deletion of <=200bp AC - upstream_gene_variant MALY-DE 3 154031625 154031625 single base substitution T A downstream_gene_variant MALY-DE 3 154031625 154031625 single base substitution T A intron_variant MALY-DE 3 154031625 154031625 single base substitution T A upstream_gene_variant MALY-DE 3 154042582 154042582 single base substitution A C upstream_gene_variant MELA-AU 3 153985361 153985361 single base substitution G A downstream_gene_variant MELA-AU 3 153986214 153986214 single base substitution G A downstream_gene_variant MELA-AU 3 153986346 153986346 single base substitution G A downstream_gene_variant MELA-AU 3 153986360 153986360 single base substitution G A downstream_gene_variant MELA-AU 3 153986379 153986379 single base substitution G A downstream_gene_variant MELA-AU 3 153986756 153986756 single base substitution A G downstream_gene_variant MELA-AU 3 153987863 153987863 single base substitution T C downstream_gene_variant MELA-AU 3 153989858 153989858 single base substitution G A downstream_gene_variant MELA-AU 3 153991589 153991589 single base substitution G A 3_prime_UTR_variant MELA-AU 3 153991589 153991589 single base substitution G A downstream_gene_variant MELA-AU 3 153992024 153992024 single base substitution G T 3_prime_UTR_variant MELA-AU 3 153992024 153992024 single base substitution G T downstream_gene_variant MELA-AU 3 153992086 153992086 single base substitution G C 3_prime_UTR_variant MELA-AU 3 153992086 153992086 single base substitution G C downstream_gene_variant MELA-AU 3 153992183 153992183 single base substitution G A 3_prime_UTR_variant MELA-AU 3 153992183 153992183 single base substitution G A downstream_gene_variant MELA-AU 3 153993111 153993111 single base substitution G A 3_prime_UTR_variant MELA-AU 3 153993111 153993111 single base substitution G A downstream_gene_variant MELA-AU 3 153994090 153994090 single base substitution G A downstream_gene_variant MELA-AU 3 153994090 153994090 single base substitution G A exon_variant MELA-AU 3 153994090 153994090 single base substitution G A missense_variant P937L 2810C>T MELA-AU 3 153994090 153994090 single base substitution G A missense_variant P952L 2855C>T MELA-AU 3 153994090 153994090 single base substitution G A missense_variant P966L 2897C>T MELA-AU 3 153994624 153994624 single base substitution G A downstream_gene_variant MELA-AU 3 153994624 153994624 single base substitution G A exon_variant MELA-AU 3 153994624 153994624 single base substitution G A missense_variant S889F 2666C>T MELA-AU 3 153994624 153994624 single base substitution G A missense_variant S904F 2711C>T MELA-AU 3 153994624 153994624 single base substitution G A missense_variant S918F 2753C>T MELA-AU 3 153996263 153996263 single base substitution G A downstream_gene_variant MELA-AU 3 153996263 153996263 single base substitution G A intron_variant MELA-AU 3 153996263 153996263 single base substitution G A upstream_gene_variant MELA-AU 3 153996295 153996295 single base substitution T C exon_variant MELA-AU 3 153996295 153996295 single base substitution T C intron_variant MELA-AU 3 153996295 153996295 single base substitution T C upstream_gene_variant MELA-AU 3 153996357 153996357 single base substitution C T exon_variant MELA-AU 3 153996357 153996357 single base substitution C T intron_variant MELA-AU 3 153996357 153996357 single base substitution C T upstream_gene_variant MELA-AU 3 153996741 153996741 single base substitution A G exon_variant MELA-AU 3 153996741 153996741 single base substitution A G intron_variant MELA-AU 3 153996741 153996741 single base substitution A G upstream_gene_variant MELA-AU 3 153996857 153996857 single base substitution C T exon_variant MELA-AU 3 153996857 153996857 single base substitution C T intron_variant MELA-AU 3 153996857 153996857 single base substitution C T upstream_gene_variant MELA-AU 3 153997336 153997336 single base substitution G A exon_variant MELA-AU 3 153997336 153997336 single base substitution G A intron_variant MELA-AU 3 153997336 153997336 single base substitution G A upstream_gene_variant MELA-AU 3 153997600 153997600 single base substitution T A downstream_gene_variant MELA-AU 3 153997600 153997600 single base substitution T A exon_variant MELA-AU 3 153997600 153997600 single base substitution T A intron_variant MELA-AU 3 153997600 153997600 single base substitution T A upstream_gene_variant MELA-AU 3 153997635 153997635 single base substitution G A downstream_gene_variant MELA-AU 3 153997635 153997635 single base substitution G A exon_variant MELA-AU 3 153997635 153997635 single base substitution G A intron_variant MELA-AU 3 153997635 153997635 single base substitution G A upstream_gene_variant MELA-AU 3 153997713 153997713 single base substitution G A downstream_gene_variant MELA-AU 3 153997713 153997713 single base substitution G A exon_variant MELA-AU 3 153997713 153997713 single base substitution G A intron_variant MELA-AU 3 153997713 153997713 single base substitution G A upstream_gene_variant MELA-AU 3 153998663 153998663 single base substitution T C downstream_gene_variant MELA-AU 3 153998663 153998663 single base substitution T C intron_variant MELA-AU 3 153998663 153998663 single base substitution T C upstream_gene_variant MELA-AU 3 154001041 154001041 single base substitution C T downstream_gene_variant MELA-AU 3 154001041 154001041 single base substitution C T exon_variant MELA-AU 3 154001041 154001041 single base substitution C T missense_variant R685Q 2054G>A MELA-AU 3 154001041 154001041 single base substitution C T missense_variant R742Q 2225G>A MELA-AU 3 154001041 154001041 single base substitution C T missense_variant R757Q 2270G>A MELA-AU 3 154001041 154001041 single base substitution C T missense_variant R771Q 2312G>A MELA-AU 3 154001041 154001041 single base substitution C T upstream_gene_variant MELA-AU 3 154001451 154001451 single base substitution G A downstream_gene_variant MELA-AU 3 154001451 154001451 single base substitution G A intron_variant MELA-AU 3 154001451 154001451 single base substitution G A upstream_gene_variant MELA-AU 3 154002017 154002017 single base substitution G A downstream_gene_variant MELA-AU 3 154002017 154002017 single base substitution G A intron_variant MELA-AU 3 154002017 154002017 single base substitution G A upstream_gene_variant MELA-AU 3 154002508 154002508 single base substitution G A downstream_gene_variant MELA-AU 3 154002508 154002508 single base substitution G A intron_variant MELA-AU 3 154002508 154002508 single base substitution G A upstream_gene_variant MELA-AU 3 154003585 154003585 single base substitution A T intron_variant MELA-AU 3 154003585 154003585 single base substitution A T upstream_gene_variant MELA-AU 3 154003826 154003826 single base substitution G A intron_variant MELA-AU 3 154003826 154003826 single base substitution G A upstream_gene_variant MELA-AU 3 154004581 154004581 single base substitution A C intron_variant MELA-AU 3 154004581 154004581 single base substitution A C upstream_gene_variant MELA-AU 3 154004605 154004605 single base substitution T A intron_variant MELA-AU 3 154004605 154004605 single base substitution T A upstream_gene_variant MELA-AU 3 154005031 154005031 single base substitution G A intron_variant MELA-AU 3 154005031 154005031 single base substitution G A upstream_gene_variant MELA-AU 3 154005510 154005510 single base substitution G A intron_variant MELA-AU 3 154005510 154005510 single base substitution G A upstream_gene_variant MELA-AU 3 154006244 154006244 single base substitution G A intron_variant MELA-AU 3 154006244 154006244 single base substitution G A upstream_gene_variant MELA-AU 3 154007432 154007450 deletion of <=200bp TTCTACAAAAGATGTTGAA - intron_variant MELA-AU 3 154007432 154007450 deletion of <=200bp TTCTACAAAAGATGTTGAA - upstream_gene_variant MELA-AU 3 154007501 154007501 single base substitution T C exon_variant MELA-AU 3 154007501 154007501 single base substitution T C missense_variant I122M 366A>G MELA-AU 3 154007501 154007501 single base substitution T C missense_variant I557M 1671A>G MELA-AU 3 154007501 154007501 single base substitution T C missense_variant I629M 1887A>G MELA-AU 3 154007501 154007501 single base substitution T C missense_variant I643M 1929A>G MELA-AU 3 154007501 154007501 single base substitution T C upstream_gene_variant MELA-AU 3 154007607 154007607 single base substitution G A exon_variant MELA-AU 3 154007607 154007607 single base substitution G A missense_variant P522L 1565C>T MELA-AU 3 154007607 154007607 single base substitution G A missense_variant P594L 1781C>T MELA-AU 3 154007607 154007607 single base substitution G A missense_variant P608L 1823C>T MELA-AU 3 154007607 154007607 single base substitution G A missense_variant P87L 260C>T MELA-AU 3 154007607 154007607 single base substitution G A upstream_gene_variant MELA-AU 3 154008019 154008019 single base substitution G A intron_variant MELA-AU 3 154008352 154008352 single base substitution G A intron_variant MELA-AU 3 154009145 154009145 single base substitution G A intron_variant MELA-AU 3 154009563 154009563 single base substitution G A intron_variant MELA-AU 3 154010350 154010350 single base substitution G C exon_variant MELA-AU 3 154010350 154010350 single base substitution G C missense_variant R516G 1546C>G MELA-AU 3 154010350 154010350 single base substitution G C missense_variant R588G 1762C>G MELA-AU 3 154010350 154010350 single base substitution G C missense_variant R602G 1804C>G MELA-AU 3 154010350 154010350 single base substitution G C missense_variant R81G 241C>G MELA-AU 3 154010640 154010640 single base substitution G A intron_variant MELA-AU 3 154010640 154010640 single base substitution G A upstream_gene_variant MELA-AU 3 154010888 154010888 single base substitution C T intron_variant MELA-AU 3 154010888 154010888 single base substitution C T upstream_gene_variant MELA-AU 3 154011358 154011358 single base substitution G A intron_variant MELA-AU 3 154011358 154011358 single base substitution G A upstream_gene_variant MELA-AU 3 154012504 154012504 single base substitution G A intron_variant MELA-AU 3 154012504 154012504 single base substitution G A upstream_gene_variant MELA-AU 3 154012627 154012627 single base substitution G A intron_variant MELA-AU 3 154012627 154012627 single base substitution G A upstream_gene_variant MELA-AU 3 154012736 154012736 single base substitution A G intron_variant MELA-AU 3 154012736 154012736 single base substitution A G upstream_gene_variant MELA-AU 3 154013292 154013292 single base substitution T A intron_variant MELA-AU 3 154013292 154013292 single base substitution T A upstream_gene_variant MELA-AU 3 154014046 154014046 single base substitution G A intron_variant MELA-AU 3 154014046 154014046 single base substitution G A upstream_gene_variant MELA-AU 3 154015372 154015372 single base substitution T C intron_variant MELA-AU 3 154015372 154015372 single base substitution T C upstream_gene_variant MELA-AU 3 154015619 154015619 single base substitution G A intron_variant MELA-AU 3 154015619 154015619 single base substitution G A upstream_gene_variant MELA-AU 3 154016819 154016819 single base substitution G A downstream_gene_variant MELA-AU 3 154016819 154016819 single base substitution G A intron_variant MELA-AU 3 154016819 154016819 single base substitution G A upstream_gene_variant MELA-AU 3 154017243 154017243 single base substitution G A downstream_gene_variant MELA-AU 3 154017243 154017243 single base substitution G A intron_variant MELA-AU 3 154017243 154017243 single base substitution G A upstream_gene_variant MELA-AU 3 154017404 154017404 single base substitution G A downstream_gene_variant MELA-AU 3 154017404 154017404 single base substitution G A intron_variant MELA-AU 3 154017404 154017404 single base substitution G A upstream_gene_variant MELA-AU 3 154017588 154017588 single base substitution C G downstream_gene_variant MELA-AU 3 154017588 154017588 single base substitution C G intron_variant MELA-AU 3 154017588 154017588 single base substitution C G upstream_gene_variant MELA-AU 3 154017754 154017754 single base substitution A C downstream_gene_variant MELA-AU 3 154017754 154017754 single base substitution A C intron_variant MELA-AU 3 154017754 154017754 single base substitution A C upstream_gene_variant MELA-AU 3 154018014 154018014 single base substitution G A downstream_gene_variant MELA-AU 3 154018014 154018014 single base substitution G A intron_variant MELA-AU 3 154018014 154018014 single base substitution G A upstream_gene_variant MELA-AU 3 154018104 154018104 single base substitution G A downstream_gene_variant MELA-AU 3 154018104 154018104 single base substitution G A intron_variant MELA-AU 3 154018104 154018104 single base substitution G A upstream_gene_variant MELA-AU 3 154018169 154018169 deletion of <=200bp A - downstream_gene_variant MELA-AU 3 154018169 154018169 deletion of <=200bp A - intron_variant MELA-AU 3 154018442 154018442 single base substitution C T downstream_gene_variant MELA-AU 3 154018442 154018442 single base substitution C T missense_variant D382N 1144G>A MELA-AU 3 154018442 154018442 single base substitution C T missense_variant D468N 1402G>A MELA-AU 3 154018684 154018684 single base substitution A G downstream_gene_variant MELA-AU 3 154018684 154018684 single base substitution A G intron_variant MELA-AU 3 154019010 154019010 single base substitution G A downstream_gene_variant MELA-AU 3 154019010 154019010 single base substitution G A intron_variant MELA-AU 3 154019134 154019134 single base substitution A T downstream_gene_variant MELA-AU 3 154019134 154019134 single base substitution A T intron_variant MELA-AU 3 154019882 154019882 single base substitution A G downstream_gene_variant MELA-AU 3 154019882 154019882 single base substitution A G intron_variant MELA-AU 3 154020344 154020344 single base substitution C T downstream_gene_variant MELA-AU 3 154020344 154020344 single base substitution C T intron_variant MELA-AU 3 154021767 154021767 single base substitution G A intron_variant MELA-AU 3 154022521 154022521 single base substitution C T intron_variant MELA-AU 3 154023042 154023042 single base substitution G A downstream_gene_variant MELA-AU 3 154023042 154023042 single base substitution G A exon_variant MELA-AU 3 154023042 154023042 single base substitution G A intron_variant MELA-AU 3 154023690 154023690 single base substitution A G downstream_gene_variant MELA-AU 3 154023690 154023690 single base substitution A G intron_variant MELA-AU 3 154023690 154023690 single base substitution A G upstream_gene_variant MELA-AU 3 154023722 154023722 single base substitution C T downstream_gene_variant MELA-AU 3 154023722 154023722 single base substitution C T intron_variant MELA-AU 3 154023722 154023722 single base substitution C T upstream_gene_variant MELA-AU 3 154023925 154023925 single base substitution G A downstream_gene_variant MELA-AU 3 154023925 154023925 single base substitution G A intron_variant MELA-AU 3 154023925 154023925 single base substitution G A upstream_gene_variant MELA-AU 3 154025234 154025234 single base substitution G A downstream_gene_variant MELA-AU 3 154025234 154025234 single base substitution G A intron_variant MELA-AU 3 154025234 154025234 single base substitution G A upstream_gene_variant MELA-AU 3 154025869 154025869 single base substitution G A downstream_gene_variant MELA-AU 3 154025869 154025869 single base substitution G A intron_variant MELA-AU 3 154025869 154025869 single base substitution G A upstream_gene_variant MELA-AU 3 154026519 154026519 single base substitution C T downstream_gene_variant MELA-AU 3 154026519 154026519 single base substitution C T intron_variant MELA-AU 3 154026519 154026519 single base substitution C T upstream_gene_variant MELA-AU 3 154026801 154026801 single base substitution A G downstream_gene_variant MELA-AU 3 154026801 154026801 single base substitution A G intron_variant MELA-AU 3 154026801 154026801 single base substitution A G upstream_gene_variant MELA-AU 3 154027598 154027598 single base substitution T C downstream_gene_variant MELA-AU 3 154027598 154027598 single base substitution T C exon_variant MELA-AU 3 154027598 154027598 single base substitution T C synonymous_variant L133L 399A>G MELA-AU 3 154027598 154027598 single base substitution T C synonymous_variant L219L 657A>G MELA-AU 3 154027598 154027598 single base substitution T C upstream_gene_variant MELA-AU 3 154029182 154029182 single base substitution G A downstream_gene_variant MELA-AU 3 154029182 154029182 single base substitution G A intron_variant MELA-AU 3 154029366 154029366 single base substitution A T downstream_gene_variant MELA-AU 3 154029366 154029366 single base substitution A T intron_variant MELA-AU 3 154029426 154029426 single base substitution T A downstream_gene_variant MELA-AU 3 154029426 154029426 single base substitution T A missense_variant K128M 383A>T MELA-AU 3 154029426 154029426 single base substitution T A missense_variant K214M 641A>T MELA-AU 3 154029426 154029426 single base substitution T A splice_region_variant MELA-AU 3 154029441 154029441 single base substitution G A downstream_gene_variant MELA-AU 3 154029441 154029441 single base substitution G A exon_variant MELA-AU 3 154029441 154029441 single base substitution G A missense_variant S123L 368C>T MELA-AU 3 154029441 154029441 single base substitution G A missense_variant S209L 626C>T MELA-AU 3 154029896 154029896 single base substitution G A downstream_gene_variant MELA-AU 3 154029896 154029896 single base substitution G A exon_variant MELA-AU 3 154029896 154029896 single base substitution G A intron_variant MELA-AU 3 154030624 154030624 single base substitution A T downstream_gene_variant MELA-AU 3 154030624 154030624 single base substitution A T intron_variant MELA-AU 3 154030624 154030624 single base substitution A T upstream_gene_variant MELA-AU 3 154031044 154031044 single base substitution G A downstream_gene_variant MELA-AU 3 154031044 154031044 single base substitution G A intron_variant MELA-AU 3 154031044 154031044 single base substitution G A upstream_gene_variant MELA-AU 3 154031195 154031195 single base substitution G A downstream_gene_variant MELA-AU 3 154031195 154031195 single base substitution G A intron_variant MELA-AU 3 154031195 154031195 single base substitution G A upstream_gene_variant MELA-AU 3 154031220 154031220 single base substitution G A downstream_gene_variant MELA-AU 3 154031220 154031220 single base substitution G A intron_variant MELA-AU 3 154031220 154031220 single base substitution G A upstream_gene_variant MELA-AU 3 154031396 154031396 single base substitution G A downstream_gene_variant MELA-AU 3 154031396 154031396 single base substitution G A intron_variant MELA-AU 3 154031396 154031396 single base substitution G A upstream_gene_variant MELA-AU 3 154032124 154032124 single base substitution G A downstream_gene_variant MELA-AU 3 154032124 154032124 single base substitution G A intron_variant MELA-AU 3 154032124 154032124 single base substitution G A upstream_gene_variant MELA-AU 3 154032323 154032323 single base substitution G A downstream_gene_variant MELA-AU 3 154032323 154032323 single base substitution G A intron_variant MELA-AU 3 154032323 154032323 single base substitution G A upstream_gene_variant MELA-AU 3 154032596 154032596 single base substitution T C exon_variant MELA-AU 3 154032596 154032596 single base substitution T C intron_variant MELA-AU 3 154032596 154032596 single base substitution T C upstream_gene_variant MELA-AU 3 154032956 154032956 single base substitution G A exon_variant MELA-AU 3 154032956 154032956 single base substitution G A missense_variant S161L 482C>T MELA-AU 3 154032956 154032956 single base substitution G A missense_variant S75L 224C>T MELA-AU 3 154032956 154032956 single base substitution G A upstream_gene_variant MELA-AU 3 154034326 154034326 single base substitution G A intron_variant MELA-AU 3 154034326 154034326 single base substitution G A upstream_gene_variant MELA-AU 3 154035083 154035083 single base substitution G A intron_variant MELA-AU 3 154037017 154037017 single base substitution C T 5_prime_UTR_variant MELA-AU 3 154037017 154037017 single base substitution C T intron_variant MELA-AU 3 154039234 154039234 single base substitution G A intron_variant MELA-AU 3 154039234 154039234 single base substitution G A upstream_gene_variant MELA-AU 3 154039692 154039692 single base substitution G A intron_variant MELA-AU 3 154039692 154039692 single base substitution G A upstream_gene_variant MELA-AU 3 154039817 154039817 single base substitution G A intron_variant MELA-AU 3 154039817 154039817 single base substitution G A upstream_gene_variant MELA-AU 3 154040015 154040015 single base substitution G A intron_variant MELA-AU 3 154040015 154040015 single base substitution G A upstream_gene_variant MELA-AU 3 154040684 154040684 single base substitution G A intron_variant MELA-AU 3 154040684 154040684 single base substitution G A upstream_gene_variant MELA-AU 3 154040817 154040817 single base substitution G A intron_variant MELA-AU 3 154040817 154040817 single base substitution G A upstream_gene_variant MELA-AU 3 154040916 154040916 single base substitution G A intron_variant MELA-AU 3 154040916 154040916 single base substitution G A upstream_gene_variant MELA-AU 3 154042016 154042016 single base substitution T C exon_variant MELA-AU 3 154042016 154042016 single base substitution T C missense_variant M64V 190A>G MELA-AU 3 154042016 154042016 single base substitution T C upstream_gene_variant MELA-AU 3 154042262 154042263 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 3 154042262 154042263 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 154042266 154042266 single base substitution G A 5_prime_UTR_variant MELA-AU 3 154042266 154042266 single base substitution G A upstream_gene_variant MELA-AU 3 154042317 154042318 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 154042713 154042713 single base substitution G A upstream_gene_variant MELA-AU 3 154043192 154043192 single base substitution G A upstream_gene_variant MELA-AU 3 154043391 154043391 single base substitution C T upstream_gene_variant MELA-AU 3 154043767 154043767 single base substitution G A upstream_gene_variant MELA-AU 3 154043908 154043908 single base substitution G A upstream_gene_variant MELA-AU 3 154043910 154043910 single base substitution G A upstream_gene_variant MELA-AU 3 154044231 154044231 single base substitution G A upstream_gene_variant MELA-AU 3 154044242 154044242 single base substitution T C upstream_gene_variant MELA-AU 3 154044281 154044281 single base substitution G A upstream_gene_variant MELA-AU 3 154044723 154044724 multiple base substitution (>=2bp and <=200bp) GG TA upstream_gene_variant MELA-AU 3 154044763 154044763 single base substitution G T upstream_gene_variant MELA-AU 3 154045641 154045641 single base substitution G A upstream_gene_variant MELA-AU 3 154045861 154045861 single base substitution C T upstream_gene_variant MELA-AU 3 154045900 154045900 single base substitution C T upstream_gene_variant MELA-AU 3 154045955 154045955 single base substitution T C upstream_gene_variant MELA-AU 3 154045964 154045964 single base substitution G A upstream_gene_variant MELA-AU 3 154045976 154045976 single base substitution A C upstream_gene_variant MELA-AU 3 154046120 154046120 single base substitution C T upstream_gene_variant MELA-AU 3 154046303 154046303 single base substitution G A upstream_gene_variant MELA-AU 3 154046457 154046457 single base substitution G A upstream_gene_variant MELA-AU 3 154046777 154046777 single base substitution T C upstream_gene_variant MELA-AU 3 154046832 154046832 single base substitution G A upstream_gene_variant MELA-AU 3 154046833 154046833 single base substitution G A upstream_gene_variant MELA-AU 3 154047039 154047039 single base substitution C T upstream_gene_variant MELA-AU 3 154047164 154047164 single base substitution C T upstream_gene_variant MELA-AU 3 154047173 154047173 single base substitution C T upstream_gene_variant ORCA-IN 3 154001109 154001109 single base substitution A G downstream_gene_variant ORCA-IN 3 154001109 154001109 single base substitution A G intron_variant ORCA-IN 3 154001109 154001109 single base substitution A G upstream_gene_variant ORCA-IN 3 154022101 154022101 single base substitution A C intron_variant ORCA-IN 3 154022796 154022796 single base substitution C G downstream_gene_variant ORCA-IN 3 154022796 154022796 single base substitution C G intron_variant OV-AU 3 153987627 153987627 single base substitution G C downstream_gene_variant OV-AU 3 153988653 153988653 single base substitution G C downstream_gene_variant OV-AU 3 153990199 153990199 single base substitution C G downstream_gene_variant OV-AU 3 154010853 154010853 single base substitution G T intron_variant OV-AU 3 154010853 154010853 single base substitution G T upstream_gene_variant OV-AU 3 154013871 154013871 single base substitution T A intron_variant OV-AU 3 154013871 154013871 single base substitution T A upstream_gene_variant OV-AU 3 154020499 154020499 single base substitution C T downstream_gene_variant OV-AU 3 154020499 154020499 single base substitution C T intron_variant OV-AU 3 154025117 154025117 single base substitution G A downstream_gene_variant OV-AU 3 154025117 154025117 single base substitution G A intron_variant OV-AU 3 154025117 154025117 single base substitution G A upstream_gene_variant OV-AU 3 154028706 154028706 single base substitution A G downstream_gene_variant OV-AU 3 154028706 154028706 single base substitution A G intron_variant OV-AU 3 154031073 154031073 single base substitution C G downstream_gene_variant OV-AU 3 154031073 154031073 single base substitution C G intron_variant OV-AU 3 154031073 154031073 single base substitution C G upstream_gene_variant OV-AU 3 154034272 154034272 single base substitution A G intron_variant OV-AU 3 154034272 154034272 single base substitution A G upstream_gene_variant OV-AU 3 154034950 154034950 single base substitution G A intron_variant OV-AU 3 154034950 154034950 single base substitution G A upstream_gene_variant OV-AU 3 154035461 154035461 single base substitution A G intron_variant OV-AU 3 154037932 154037932 single base substitution G A intron_variant OV-AU 3 154037932 154037932 single base substitution G A upstream_gene_variant OV-AU 3 154038722 154038722 single base substitution T C intron_variant OV-AU 3 154038722 154038722 single base substitution T C upstream_gene_variant OV-AU 3 154040719 154040719 single base substitution T G intron_variant OV-AU 3 154040719 154040719 single base substitution T G upstream_gene_variant OV-AU 3 154040875 154040875 single base substitution G A intron_variant OV-AU 3 154040875 154040875 single base substitution G A upstream_gene_variant OV-AU 3 154041987 154041987 single base substitution C T exon_variant OV-AU 3 154041987 154041987 single base substitution C T synonymous_variant K73K 219G>A OV-AU 3 154041987 154041987 single base substitution C T upstream_gene_variant OV-AU 3 154045458 154045458 single base substitution C T upstream_gene_variant OV-AU 3 154045685 154045685 single base substitution C G upstream_gene_variant OV-AU 3 154046276 154046276 single base substitution A G upstream_gene_variant PACA-AU 3 153987951 153987951 single base substitution G C downstream_gene_variant PACA-AU 3 153988733 153988733 single base substitution C T downstream_gene_variant PACA-AU 3 153992007 153992007 single base substitution G T 3_prime_UTR_variant PACA-AU 3 153992007 153992007 single base substitution G T downstream_gene_variant PACA-AU 3 153992610 153992617 deletion of <=200bp ACCAGAAT - 3_prime_UTR_variant PACA-AU 3 153992610 153992617 deletion of <=200bp ACCAGAAT - downstream_gene_variant PACA-AU 3 153992630 153992630 single base substitution A C 3_prime_UTR_variant PACA-AU 3 153992630 153992630 single base substitution A C downstream_gene_variant PACA-AU 3 153999555 153999555 single base substitution C T downstream_gene_variant PACA-AU 3 153999555 153999555 single base substitution C T intron_variant PACA-AU 3 153999555 153999555 single base substitution C T upstream_gene_variant PACA-AU 3 154003969 154003969 single base substitution A C intron_variant PACA-AU 3 154003969 154003969 single base substitution A C upstream_gene_variant PACA-AU 3 154004566 154004568 deletion of <=200bp AAG - intron_variant PACA-AU 3 154004566 154004568 deletion of <=200bp AAG - upstream_gene_variant PACA-AU 3 154016730 154016730 single base substitution A G downstream_gene_variant PACA-AU 3 154016730 154016730 single base substitution A G intron_variant PACA-AU 3 154016730 154016730 single base substitution A G upstream_gene_variant PACA-AU 3 154023118 154023118 single base substitution G A downstream_gene_variant PACA-AU 3 154023118 154023118 single base substitution G A exon_variant PACA-AU 3 154023118 154023118 single base substitution G A intron_variant PACA-AU 3 154025085 154025085 single base substitution C T downstream_gene_variant PACA-AU 3 154025085 154025085 single base substitution C T intron_variant PACA-AU 3 154025085 154025085 single base substitution C T upstream_gene_variant PACA-AU 3 154026543 154026543 single base substitution T C downstream_gene_variant PACA-AU 3 154026543 154026543 single base substitution T C intron_variant PACA-AU 3 154026543 154026543 single base substitution T C upstream_gene_variant PACA-AU 3 154035679 154035680 deletion of <=200bp GT - intron_variant PACA-AU 3 154041016 154041016 single base substitution C T intron_variant PACA-AU 3 154041016 154041016 single base substitution C T upstream_gene_variant PACA-AU 3 154043367 154043367 single base substitution C T upstream_gene_variant PACA-AU 3 154044544 154044544 single base substitution A G upstream_gene_variant PACA-AU 3 154044545 154044545 single base substitution G A upstream_gene_variant PACA-AU 3 154047021 154047021 single base substitution G C upstream_gene_variant PACA-CA 3 153988968 153988968 single base substitution G C downstream_gene_variant PACA-CA 3 153989416 153989416 single base substitution A G downstream_gene_variant PACA-CA 3 153990325 153990325 single base substitution A T downstream_gene_variant PACA-CA 3 153994807 153994807 single base substitution T C downstream_gene_variant PACA-CA 3 153994807 153994807 single base substitution T C intron_variant PACA-CA 3 153995313 153995313 single base substitution G T downstream_gene_variant PACA-CA 3 153995313 153995313 single base substitution G T intron_variant PACA-CA 3 153995805 153995805 single base substitution G A downstream_gene_variant PACA-CA 3 153995805 153995805 single base substitution G A intron_variant PACA-CA 3 153995805 153995805 single base substitution G A upstream_gene_variant PACA-CA 3 153998483 153998483 single base substitution G A downstream_gene_variant PACA-CA 3 153998483 153998483 single base substitution G A intron_variant PACA-CA 3 153998483 153998483 single base substitution G A upstream_gene_variant PACA-CA 3 154001053 154001053 single base substitution T C downstream_gene_variant PACA-CA 3 154001053 154001053 single base substitution T C exon_variant PACA-CA 3 154001053 154001053 single base substitution T C missense_variant E681G 2042A>G PACA-CA 3 154001053 154001053 single base substitution T C missense_variant E738G 2213A>G PACA-CA 3 154001053 154001053 single base substitution T C missense_variant E753G 2258A>G PACA-CA 3 154001053 154001053 single base substitution T C missense_variant E767G 2300A>G PACA-CA 3 154001053 154001053 single base substitution T C upstream_gene_variant PACA-CA 3 154002839 154002839 single base substitution A G intron_variant PACA-CA 3 154002839 154002839 single base substitution A G upstream_gene_variant PACA-CA 3 154003163 154003163 single base substitution C T intron_variant PACA-CA 3 154003163 154003163 single base substitution C T upstream_gene_variant PACA-CA 3 154007064 154007064 single base substitution A G intron_variant PACA-CA 3 154007064 154007064 single base substitution A G upstream_gene_variant PACA-CA 3 154007703 154007703 single base substitution G T intron_variant PACA-CA 3 154007703 154007703 single base substitution G T upstream_gene_variant PACA-CA 3 154010262 154010262 single base substitution C G intron_variant PACA-CA 3 154011409 154011409 insertion of <=200bp - A intron_variant PACA-CA 3 154011409 154011409 insertion of <=200bp - A upstream_gene_variant PACA-CA 3 154011763 154011763 single base substitution T A intron_variant PACA-CA 3 154011763 154011763 single base substitution T A upstream_gene_variant PACA-CA 3 154013941 154013941 single base substitution G C intron_variant PACA-CA 3 154013941 154013941 single base substitution G C upstream_gene_variant PACA-CA 3 154014265 154014265 single base substitution A T intron_variant PACA-CA 3 154014265 154014265 single base substitution A T upstream_gene_variant PACA-CA 3 154014371 154014371 single base substitution T C intron_variant PACA-CA 3 154014371 154014371 single base substitution T C upstream_gene_variant PACA-CA 3 154015521 154015521 single base substitution G T intron_variant PACA-CA 3 154015521 154015521 single base substitution G T upstream_gene_variant PACA-CA 3 154017108 154017108 single base substitution C G downstream_gene_variant PACA-CA 3 154017108 154017108 single base substitution C G intron_variant PACA-CA 3 154017108 154017108 single base substitution C G upstream_gene_variant PACA-CA 3 154020608 154020608 single base substitution T C downstream_gene_variant PACA-CA 3 154020608 154020608 single base substitution T C intron_variant PACA-CA 3 154021091 154021091 insertion of <=200bp - T downstream_gene_variant PACA-CA 3 154021091 154021091 insertion of <=200bp - T intron_variant PACA-CA 3 154021188 154021188 single base substitution T C exon_variant PACA-CA 3 154021188 154021188 single base substitution T C missense_variant M297V 889A>G PACA-CA 3 154021188 154021188 single base substitution T C missense_variant M383V 1147A>G PACA-CA 3 154027184 154027184 single base substitution C G downstream_gene_variant PACA-CA 3 154027184 154027184 single base substitution C G intron_variant PACA-CA 3 154027184 154027184 single base substitution C G upstream_gene_variant PACA-CA 3 154028459 154028459 single base substitution C T downstream_gene_variant PACA-CA 3 154028459 154028459 single base substitution C T intron_variant PACA-CA 3 154029072 154029072 deletion of <=200bp T - downstream_gene_variant PACA-CA 3 154029072 154029072 deletion of <=200bp T - intron_variant PACA-CA 3 154029896 154029896 single base substitution G T downstream_gene_variant PACA-CA 3 154029896 154029896 single base substitution G T exon_variant PACA-CA 3 154029896 154029896 single base substitution G T intron_variant PACA-CA 3 154035349 154035349 single base substitution C T intron_variant PACA-CA 3 154035505 154035505 single base substitution G C intron_variant PACA-CA 3 154036306 154036306 single base substitution C T intron_variant PACA-CA 3 154040652 154040652 single base substitution C T intron_variant PACA-CA 3 154040652 154040652 single base substitution C T upstream_gene_variant PACA-CA 3 154040949 154040949 single base substitution C A intron_variant PACA-CA 3 154040949 154040949 single base substitution C A upstream_gene_variant PACA-CA 3 154043908 154043908 single base substitution G A upstream_gene_variant PACA-CA 3 154045693 154045693 single base substitution T C upstream_gene_variant PACA-CA 3 154045978 154045978 single base substitution C T upstream_gene_variant PACA-CA 3 154046760 154046760 single base substitution G A upstream_gene_variant PAEN-AU 3 153986909 153986909 insertion of <=200bp - A downstream_gene_variant PAEN-AU 3 154006461 154006461 single base substitution A C intron_variant PAEN-AU 3 154006461 154006461 single base substitution A C upstream_gene_variant PAEN-IT 3 153987034 153987034 single base substitution C T downstream_gene_variant PAEN-IT 3 154004446 154004446 single base substitution T A intron_variant PAEN-IT 3 154004446 154004446 single base substitution T A upstream_gene_variant PAEN-IT 3 154011108 154011108 single base substitution C T intron_variant PAEN-IT 3 154011108 154011108 single base substitution C T upstream_gene_variant PAEN-IT 3 154041279 154041279 single base substitution G A intron_variant PAEN-IT 3 154041279 154041279 single base substitution G A upstream_gene_variant PBCA-DE 3 153989451 153989451 insertion of <=200bp - C downstream_gene_variant PBCA-DE 3 153995299 153995299 single base substitution T A downstream_gene_variant PBCA-DE 3 153995299 153995299 single base substitution T A intron_variant PBCA-DE 3 153999799 153999799 single base substitution G A downstream_gene_variant PBCA-DE 3 153999799 153999799 single base substitution G A intron_variant PBCA-DE 3 153999799 153999799 single base substitution G A upstream_gene_variant PBCA-DE 3 154002774 154002774 single base substitution G A exon_variant PBCA-DE 3 154002774 154002774 single base substitution G A splice_region_variant PBCA-DE 3 154002774 154002774 single base substitution G A upstream_gene_variant PBCA-DE 3 154003789 154003789 single base substitution G T intron_variant PBCA-DE 3 154003789 154003789 single base substitution G T upstream_gene_variant PBCA-DE 3 154010353 154010353 single base substitution C T exon_variant PBCA-DE 3 154010353 154010353 single base substitution C T missense_variant G515S 1543G>A PBCA-DE 3 154010353 154010353 single base substitution C T missense_variant G587S 1759G>A PBCA-DE 3 154010353 154010353 single base substitution C T missense_variant G601S 1801G>A PBCA-DE 3 154010353 154010353 single base substitution C T missense_variant G80S 238G>A PBCA-DE 3 154031363 154031363 single base substitution G C downstream_gene_variant PBCA-DE 3 154031363 154031363 single base substitution G C intron_variant PBCA-DE 3 154031363 154031363 single base substitution G C upstream_gene_variant PBCA-DE 3 154045349 154045349 single base substitution C T upstream_gene_variant PRAD-CA 3 154010425 154010425 single base substitution A T missense_variant F491I 1471T>A PRAD-CA 3 154010425 154010425 single base substitution A T missense_variant F563I 1687T>A PRAD-CA 3 154010425 154010425 single base substitution A T missense_variant F56I 166T>A PRAD-CA 3 154010425 154010425 single base substitution A T missense_variant F577I 1729T>A PRAD-CA 3 154010425 154010425 single base substitution A T upstream_gene_variant PRAD-CA 3 154014106 154014106 single base substitution A T intron_variant PRAD-CA 3 154014106 154014106 single base substitution A T upstream_gene_variant PRAD-CA 3 154027473 154027473 single base substitution C A downstream_gene_variant PRAD-CA 3 154027473 154027473 single base substitution C A missense_variant C175F 524G>T PRAD-CA 3 154027473 154027473 single base substitution C A missense_variant C261F 782G>T PRAD-CA 3 154027473 154027473 single base substitution C A upstream_gene_variant PRAD-CA 3 154046683 154046683 single base substitution G A upstream_gene_variant PRAD-UK 3 153998251 153998251 single base substitution G C downstream_gene_variant PRAD-UK 3 153998251 153998251 single base substitution G C exon_variant PRAD-UK 3 153998251 153998251 single base substitution G C intron_variant PRAD-UK 3 153998251 153998251 single base substitution G C upstream_gene_variant PRAD-UK 3 154000508 154000508 single base substitution T A downstream_gene_variant PRAD-UK 3 154000508 154000508 single base substitution T A intron_variant PRAD-UK 3 154000508 154000508 single base substitution T A upstream_gene_variant PRAD-UK 3 154003719 154003719 single base substitution C T intron_variant PRAD-UK 3 154003719 154003719 single base substitution C T upstream_gene_variant PRAD-US 3 154032977 154032977 insertion of <=200bp - T exon_variant PRAD-US 3 154032977 154032977 insertion of <=200bp - T frameshift_variant M154I? PRAD-US 3 154032977 154032977 insertion of <=200bp - T frameshift_variant M68I? PRAD-US 3 154032977 154032977 insertion of <=200bp - T upstream_gene_variant READ-US 3 154006755 154006755 single base substitution T C intron_variant READ-US 3 154006755 154006755 single base substitution T C splice_acceptor_variant READ-US 3 154006755 154006755 single base substitution T C upstream_gene_variant READ-US 3 154011585 154011585 single base substitution G A missense_variant P20L 59C>T READ-US 3 154011585 154011585 single base substitution G A missense_variant P455L 1364C>T READ-US 3 154011585 154011585 single base substitution G A missense_variant P527L 1580C>T READ-US 3 154011585 154011585 single base substitution G A missense_variant P541L 1622C>T READ-US 3 154011585 154011585 single base substitution G A upstream_gene_variant READ-US 3 154033003 154033003 single base substitution C A exon_variant READ-US 3 154033003 154033003 single base substitution C A missense_variant K145N 435G>T READ-US 3 154033003 154033003 single base substitution C A missense_variant K59N 177G>T READ-US 3 154033003 154033003 single base substitution C A upstream_gene_variant RECA-EU 3 153998337 153998337 single base substitution C A downstream_gene_variant RECA-EU 3 153998337 153998337 single base substitution C A exon_variant RECA-EU 3 153998337 153998337 single base substitution C A intron_variant RECA-EU 3 153998337 153998337 single base substitution C A upstream_gene_variant RECA-EU 3 154000021 154000021 single base substitution C T downstream_gene_variant RECA-EU 3 154000021 154000021 single base substitution C T intron_variant RECA-EU 3 154000021 154000021 single base substitution C T upstream_gene_variant RECA-EU 3 154001657 154001657 single base substitution T C downstream_gene_variant RECA-EU 3 154001657 154001657 single base substitution T C intron_variant RECA-EU 3 154001657 154001657 single base substitution T C upstream_gene_variant RECA-EU 3 154009238 154009238 single base substitution G C intron_variant RECA-EU 3 154015450 154015450 single base substitution G T intron_variant RECA-EU 3 154015450 154015450 single base substitution G T upstream_gene_variant RECA-EU 3 154015954 154015954 single base substitution C A intron_variant RECA-EU 3 154015954 154015954 single base substitution C A upstream_gene_variant RECA-EU 3 154015973 154015973 single base substitution C A intron_variant RECA-EU 3 154015973 154015973 single base substitution C A upstream_gene_variant RECA-EU 3 154018860 154018860 single base substitution C T downstream_gene_variant RECA-EU 3 154018860 154018860 single base substitution C T missense_variant G339E 1016G>A RECA-EU 3 154018860 154018860 single base substitution C T missense_variant G425E 1274G>A RECA-EU 3 154025578 154025578 single base substitution C A downstream_gene_variant RECA-EU 3 154025578 154025578 single base substitution C A intron_variant RECA-EU 3 154025578 154025578 single base substitution C A upstream_gene_variant RECA-EU 3 154031500 154031500 single base substitution T A downstream_gene_variant RECA-EU 3 154031500 154031500 single base substitution T A intron_variant RECA-EU 3 154031500 154031500 single base substitution T A upstream_gene_variant RECA-EU 3 154031966 154031966 single base substitution C A downstream_gene_variant RECA-EU 3 154031966 154031966 single base substitution C A intron_variant RECA-EU 3 154031966 154031966 single base substitution C A upstream_gene_variant RECA-EU 3 154033598 154033598 single base substitution C A intron_variant RECA-EU 3 154033598 154033598 single base substitution C A upstream_gene_variant RECA-EU 3 154045010 154045010 single base substitution T A upstream_gene_variant RECA-EU 3 154046387 154046387 single base substitution C T upstream_gene_variant SKCA-BR 3 153986319 153986319 single base substitution G T downstream_gene_variant SKCA-BR 3 153993842 153993842 single base substitution G A 3_prime_UTR_variant SKCA-BR 3 153993842 153993842 single base substitution G A downstream_gene_variant SKCA-BR 3 153993842 153993842 single base substitution G A exon_variant SKCA-BR 3 154003968 154003968 insertion of <=200bp - AAAC intron_variant SKCA-BR 3 154003968 154003968 insertion of <=200bp - AAAC upstream_gene_variant SKCA-BR 3 154004613 154004613 single base substitution T A intron_variant SKCA-BR 3 154004613 154004613 single base substitution T A upstream_gene_variant SKCA-BR 3 154005046 154005046 single base substitution A T intron_variant SKCA-BR 3 154005046 154005046 single base substitution A T upstream_gene_variant SKCA-BR 3 154005936 154005937 deletion of <=200bp CA - intron_variant SKCA-BR 3 154005936 154005937 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 3 154008923 154008935 deletion of <=200bp CAAAAAAAAAAAA - intron_variant SKCA-BR 3 154009800 154009800 single base substitution C T intron_variant SKCA-BR 3 154012971 154012971 single base substitution G A intron_variant SKCA-BR 3 154012971 154012971 single base substitution G A upstream_gene_variant SKCA-BR 3 154014865 154014865 single base substitution G A intron_variant SKCA-BR 3 154014865 154014865 single base substitution G A upstream_gene_variant SKCA-BR 3 154021476 154021476 single base substitution C T intron_variant SKCA-BR 3 154023246 154023246 single base substitution C T downstream_gene_variant SKCA-BR 3 154023246 154023246 single base substitution C T intron_variant SKCA-BR 3 154023246 154023246 single base substitution C T upstream_gene_variant SKCA-BR 3 154025586 154025586 insertion of <=200bp - CAAA downstream_gene_variant SKCA-BR 3 154025586 154025586 insertion of <=200bp - CAAA intron_variant SKCA-BR 3 154025586 154025586 insertion of <=200bp - CAAA upstream_gene_variant SKCA-BR 3 154026874 154026874 single base substitution G A downstream_gene_variant SKCA-BR 3 154026874 154026874 single base substitution G A intron_variant SKCA-BR 3 154026874 154026874 single base substitution G A upstream_gene_variant SKCA-BR 3 154028195 154028195 single base substitution G A downstream_gene_variant SKCA-BR 3 154028195 154028195 single base substitution G A intron_variant SKCA-BR 3 154028596 154028611 deletion of <=200bp ATATATATATATATAT - downstream_gene_variant SKCA-BR 3 154028596 154028611 deletion of <=200bp ATATATATATATATAT - intron_variant SKCA-BR 3 154028940 154028940 single base substitution A G downstream_gene_variant SKCA-BR 3 154028940 154028940 single base substitution A G intron_variant SKCA-BR 3 154035816 154035816 single base substitution G A intron_variant SKCA-BR 3 154038135 154038135 single base substitution G A intron_variant SKCA-BR 3 154038135 154038135 single base substitution G A upstream_gene_variant SKCA-BR 3 154043684 154043684 single base substitution T G upstream_gene_variant SKCA-BR 3 154044530 154044530 single base substitution A G upstream_gene_variant SKCA-BR 3 154044685 154044685 single base substitution G A upstream_gene_variant SKCA-BR 3 154044808 154044808 single base substitution G A upstream_gene_variant SKCA-BR 3 154046026 154046026 single base substitution A T upstream_gene_variant SKCA-BR 3 154046404 154046404 insertion of <=200bp - CT upstream_gene_variant SKCM-US 3 153998449 153998449 single base substitution T A downstream_gene_variant SKCM-US 3 153998449 153998449 single base substitution T A exon_variant SKCM-US 3 153998449 153998449 single base substitution T A missense_variant K743M 2228A>T SKCM-US 3 153998449 153998449 single base substitution T A missense_variant K800M 2399A>T SKCM-US 3 153998449 153998449 single base substitution T A missense_variant K815M 2444A>T SKCM-US 3 153998449 153998449 single base substitution T A missense_variant K829M 2486A>T SKCM-US 3 153998449 153998449 single base substitution T A upstream_gene_variant SKCM-US 3 154001041 154001041 single base substitution C T downstream_gene_variant SKCM-US 3 154001041 154001041 single base substitution C T exon_variant SKCM-US 3 154001041 154001041 single base substitution C T missense_variant R685Q 2054G>A SKCM-US 3 154001041 154001041 single base substitution C T missense_variant R742Q 2225G>A SKCM-US 3 154001041 154001041 single base substitution C T missense_variant R757Q 2270G>A SKCM-US 3 154001041 154001041 single base substitution C T missense_variant R771Q 2312G>A SKCM-US 3 154001041 154001041 single base substitution C T upstream_gene_variant SKCM-US 3 154007607 154007607 single base substitution G A exon_variant SKCM-US 3 154007607 154007607 single base substitution G A missense_variant P522L 1565C>T SKCM-US 3 154007607 154007607 single base substitution G A missense_variant P594L 1781C>T SKCM-US 3 154007607 154007607 single base substitution G A missense_variant P608L 1823C>T SKCM-US 3 154007607 154007607 single base substitution G A missense_variant P87L 260C>T SKCM-US 3 154007607 154007607 single base substitution G A upstream_gene_variant SKCM-US 3 154017629 154017629 single base substitution G A downstream_gene_variant SKCM-US 3 154017629 154017629 single base substitution G A missense_variant S430L 1289C>T SKCM-US 3 154017629 154017629 single base substitution G A missense_variant S516L 1547C>T SKCM-US 3 154017629 154017629 single base substitution G A upstream_gene_variant SKCM-US 3 154018391 154018391 single base substitution C T downstream_gene_variant SKCM-US 3 154018391 154018391 single base substitution C T missense_variant E399K 1195G>A SKCM-US 3 154018391 154018391 single base substitution C T missense_variant E485K 1453G>A SKCM-US 3 154024015 154024015 single base substitution G A downstream_gene_variant SKCM-US 3 154024015 154024015 single base substitution G A missense_variant R209C 625C>T SKCM-US 3 154024015 154024015 single base substitution G A missense_variant R295C 883C>T SKCM-US 3 154024015 154024015 single base substitution G A upstream_gene_variant SKCM-US 3 154027597 154027597 single base substitution T G downstream_gene_variant SKCM-US 3 154027597 154027597 single base substitution T G exon_variant SKCM-US 3 154027597 154027597 single base substitution T G missense_variant I134L 400A>C SKCM-US 3 154027597 154027597 single base substitution T G missense_variant I220L 658A>C SKCM-US 3 154027597 154027597 single base substitution T G upstream_gene_variant SKCM-US 3 154027598 154027598 single base substitution T C downstream_gene_variant SKCM-US 3 154027598 154027598 single base substitution T C exon_variant SKCM-US 3 154027598 154027598 single base substitution T C synonymous_variant L133L 399A>G SKCM-US 3 154027598 154027598 single base substitution T C synonymous_variant L219L 657A>G SKCM-US 3 154027598 154027598 single base substitution T C upstream_gene_variant SKCM-US 3 154032852 154032852 single base substitution G A exon_variant SKCM-US 3 154032852 154032852 single base substitution G A missense_variant R110W 328C>T SKCM-US 3 154032852 154032852 single base substitution G A missense_variant R196W 586C>T SKCM-US 3 154032852 154032852 single base substitution G A upstream_gene_variant SKCM-US 3 154042090 154042090 single base substitution C T missense_variant G39D 116G>A SKCM-US 3 154042090 154042090 single base substitution C T upstream_gene_variant SKCM-US 3 154042118 154042118 single base substitution G A missense_variant H30Y 88C>T SKCM-US 3 154042118 154042118 single base substitution G A upstream_gene_variant STAD-US 3 153995437 153995437 single base substitution C T 3_prime_UTR_variant STAD-US 3 153995437 153995437 single base substitution C T downstream_gene_variant STAD-US 3 153995437 153995437 single base substitution C T exon_variant STAD-US 3 153995437 153995437 single base substitution C T missense_variant D794N 2380G>A STAD-US 3 153995437 153995437 single base substitution C T missense_variant D851N 2551G>A STAD-US 3 153995437 153995437 single base substitution C T missense_variant D866N 2596G>A STAD-US 3 153995437 153995437 single base substitution C T missense_variant D880N 2638G>A STAD-US 3 153998375 153998375 insertion of <=200bp - T 3_prime_UTR_variant STAD-US 3 153998375 153998375 insertion of <=200bp - T downstream_gene_variant STAD-US 3 153998375 153998375 insertion of <=200bp - T exon_variant STAD-US 3 153998375 153998375 insertion of <=200bp - T frameshift_variant R768K? STAD-US 3 153998375 153998375 insertion of <=200bp - T frameshift_variant R825K? STAD-US 3 153998375 153998375 insertion of <=200bp - T frameshift_variant R840K? STAD-US 3 153998375 153998375 insertion of <=200bp - T frameshift_variant R854K? STAD-US 3 153998375 153998375 insertion of <=200bp - T upstream_gene_variant STAD-US 3 154002398 154002398 single base substitution G A downstream_gene_variant STAD-US 3 154002398 154002398 single base substitution G A exon_variant STAD-US 3 154002398 154002398 single base substitution G A intron_variant STAD-US 3 154002398 154002398 single base substitution G A missense_variant H670Y 2008C>T STAD-US 3 154002398 154002398 single base substitution G A missense_variant H742Y 2224C>T STAD-US 3 154002398 154002398 single base substitution G A missense_variant H756Y 2266C>T STAD-US 3 154002398 154002398 single base substitution G A upstream_gene_variant STAD-US 3 154002448 154002448 single base substitution T G downstream_gene_variant STAD-US 3 154002448 154002448 single base substitution T G exon_variant STAD-US 3 154002448 154002448 single base substitution T G intron_variant STAD-US 3 154002448 154002448 single base substitution T G missense_variant K185T 554A>C STAD-US 3 154002448 154002448 single base substitution T G missense_variant K653T 1958A>C STAD-US 3 154002448 154002448 single base substitution T G missense_variant K725T 2174A>C STAD-US 3 154002448 154002448 single base substitution T G missense_variant K739T 2216A>C STAD-US 3 154002448 154002448 single base substitution T G upstream_gene_variant STAD-US 3 154002693 154002693 single base substitution C A exon_variant STAD-US 3 154002693 154002693 single base substitution C A missense_variant M151I 453G>T STAD-US 3 154002693 154002693 single base substitution C A missense_variant M619I 1857G>T STAD-US 3 154002693 154002693 single base substitution C A missense_variant M691I 2073G>T STAD-US 3 154002693 154002693 single base substitution C A missense_variant M705I 2115G>T STAD-US 3 154002693 154002693 single base substitution C A upstream_gene_variant STAD-US 3 154002694 154002694 single base substitution A G exon_variant STAD-US 3 154002694 154002694 single base substitution A G missense_variant M151T 452T>C STAD-US 3 154002694 154002694 single base substitution A G missense_variant M619T 1856T>C STAD-US 3 154002694 154002694 single base substitution A G missense_variant M691T 2072T>C STAD-US 3 154002694 154002694 single base substitution A G missense_variant M705T 2114T>C STAD-US 3 154002694 154002694 single base substitution A G upstream_gene_variant STAD-US 3 154002773 154002773 single base substitution C T exon_variant STAD-US 3 154002773 154002773 single base substitution C T missense_variant A125T 373G>A STAD-US 3 154002773 154002773 single base substitution C T missense_variant A593T 1777G>A STAD-US 3 154002773 154002773 single base substitution C T missense_variant A665T 1993G>A STAD-US 3 154002773 154002773 single base substitution C T missense_variant A679T 2035G>A STAD-US 3 154002773 154002773 single base substitution C T upstream_gene_variant STAD-US 3 154006670 154006670 single base substitution T C exon_variant STAD-US 3 154006670 154006670 single base substitution T C intron_variant STAD-US 3 154006670 154006670 single base substitution T C synonymous_variant R586R 1758A>G STAD-US 3 154006670 154006670 single base substitution T C synonymous_variant R658R 1974A>G STAD-US 3 154006670 154006670 single base substitution T C synonymous_variant R672R 2016A>G STAD-US 3 154006670 154006670 single base substitution T C upstream_gene_variant STAD-US 3 154007584 154007584 single base substitution T G exon_variant STAD-US 3 154007584 154007584 single base substitution T G missense_variant N530H 1588A>C STAD-US 3 154007584 154007584 single base substitution T G missense_variant N602H 1804A>C STAD-US 3 154007584 154007584 single base substitution T G missense_variant N616H 1846A>C STAD-US 3 154007584 154007584 single base substitution T G missense_variant N95H 283A>C STAD-US 3 154007584 154007584 single base substitution T G upstream_gene_variant STAD-US 3 154007599 154007599 single base substitution A T exon_variant STAD-US 3 154007599 154007599 single base substitution A T missense_variant C525S 1573T>A STAD-US 3 154007599 154007599 single base substitution A T missense_variant C597S 1789T>A STAD-US 3 154007599 154007599 single base substitution A T missense_variant C611S 1831T>A STAD-US 3 154007599 154007599 single base substitution A T missense_variant C90S 268T>A STAD-US 3 154007599 154007599 single base substitution A T upstream_gene_variant STAD-US 3 154010343 154010343 single base substitution C T exon_variant STAD-US 3 154010343 154010343 single base substitution C T missense_variant G518E 1553G>A STAD-US 3 154010343 154010343 single base substitution C T missense_variant G590E 1769G>A STAD-US 3 154010343 154010343 single base substitution C T missense_variant G604E 1811G>A STAD-US 3 154010343 154010343 single base substitution C T missense_variant G83E 248G>A STAD-US 3 154010350 154010350 single base substitution G A exon_variant STAD-US 3 154010350 154010350 single base substitution G A stop_gained R516* 1546C>T STAD-US 3 154010350 154010350 single base substitution G A stop_gained R588* 1762C>T STAD-US 3 154010350 154010350 single base substitution G A stop_gained R602* 1804C>T STAD-US 3 154010350 154010350 single base substitution G A stop_gained R81* 241C>T STAD-US 3 154010357 154010358 deletion of <=200bp TC - exon_variant STAD-US 3 154010357 154010358 deletion of <=200bp TC - frameshift_variant R513 STAD-US 3 154010357 154010358 deletion of <=200bp TC - frameshift_variant R585 STAD-US 3 154010357 154010358 deletion of <=200bp TC - frameshift_variant R599 STAD-US 3 154010357 154010358 deletion of <=200bp TC - frameshift_variant R78 STAD-US 3 154010429 154010429 single base substitution C T synonymous_variant T489T 1467G>A STAD-US 3 154010429 154010429 single base substitution C T synonymous_variant T54T 162G>A STAD-US 3 154010429 154010429 single base substitution C T synonymous_variant T561T 1683G>A STAD-US 3 154010429 154010429 single base substitution C T synonymous_variant T575T 1725G>A STAD-US 3 154010429 154010429 single base substitution C T upstream_gene_variant STAD-US 3 154011567 154011567 single base substitution A T missense_variant I26K 77T>A STAD-US 3 154011567 154011567 single base substitution A T missense_variant I461K 1382T>A STAD-US 3 154011567 154011567 single base substitution A T missense_variant I533K 1598T>A STAD-US 3 154011567 154011567 single base substitution A T missense_variant I547K 1640T>A STAD-US 3 154011567 154011567 single base substitution A T upstream_gene_variant STAD-US 3 154013119 154013119 single base substitution A T intron_variant STAD-US 3 154013119 154013119 single base substitution A T stop_gained L434* 1301T>A STAD-US 3 154013119 154013119 single base substitution A T stop_gained L520* 1559T>A STAD-US 3 154013119 154013119 single base substitution A T upstream_gene_variant STAD-US 3 154017707 154017707 single base substitution G A downstream_gene_variant STAD-US 3 154017707 154017707 single base substitution G A missense_variant A404V 1211C>T STAD-US 3 154017707 154017707 single base substitution G A missense_variant A490V 1469C>T STAD-US 3 154017707 154017707 single base substitution G A upstream_gene_variant STAD-US 3 154022719 154022719 single base substitution A C downstream_gene_variant STAD-US 3 154022719 154022719 single base substitution A C exon_variant STAD-US 3 154022719 154022719 single base substitution A C missense_variant H251Q 753T>G STAD-US 3 154022719 154022719 single base substitution A C missense_variant H337Q 1011T>G STAD-US 3 154022736 154022736 single base substitution C T downstream_gene_variant STAD-US 3 154022736 154022736 single base substitution C T exon_variant STAD-US 3 154022736 154022736 single base substitution C T missense_variant V246I 736G>A STAD-US 3 154022736 154022736 single base substitution C T missense_variant V332I 994G>A STAD-US 3 154024054 154024054 single base substitution C T downstream_gene_variant STAD-US 3 154024054 154024054 single base substitution C T missense_variant E196K 586G>A STAD-US 3 154024054 154024054 single base substitution C T missense_variant E282K 844G>A STAD-US 3 154024054 154024054 single base substitution C T upstream_gene_variant STAD-US 3 154032899 154032899 single base substitution A G exon_variant STAD-US 3 154032899 154032899 single base substitution A G missense_variant L180S 539T>C STAD-US 3 154032899 154032899 single base substitution A G missense_variant L94S 281T>C STAD-US 3 154032899 154032899 single base substitution A G upstream_gene_variant STAD-US 3 154033048 154033048 single base substitution A G exon_variant STAD-US 3 154033048 154033048 single base substitution A G synonymous_variant T130T 390T>C STAD-US 3 154033048 154033048 single base substitution A G synonymous_variant T44T 132T>C STAD-US 3 154033048 154033048 single base substitution A G upstream_gene_variant STAD-US 3 154033826 154033826 single base substitution A G splice_donor_variant STAD-US 3 154033826 154033826 single base substitution A G upstream_gene_variant STAD-US 3 154042185 154042185 single base substitution C A missense_variant Q7H 21G>T STAD-US 3 154042185 154042185 single base substitution C A upstream_gene_variant THCA-US 3 154033843 154033843 single base substitution G C exon_variant THCA-US 3 154033843 154033843 single base substitution G C missense_variant A118G 353C>G THCA-US 3 154033843 154033843 single base substitution G C missense_variant A32G 95C>G THCA-US 3 154033843 154033843 single base substitution G C upstream_gene_variant UCEC-US 3 153993987 153993987 single base substitution T G downstream_gene_variant UCEC-US 3 153993987 153993987 single base substitution T G exon_variant UCEC-US 3 153993987 153993987 single base substitution T G synonymous_variant P1000P 3000A>C UCEC-US 3 153993987 153993987 single base substitution T G synonymous_variant P971P 2913A>C UCEC-US 3 153993987 153993987 single base substitution T G synonymous_variant P986P 2958A>C UCEC-US 3 153995424 153995424 single base substitution T C 3_prime_UTR_variant UCEC-US 3 153995424 153995424 single base substitution T C downstream_gene_variant UCEC-US 3 153995424 153995424 single base substitution T C exon_variant UCEC-US 3 153995424 153995424 single base substitution T C missense_variant N855S 2564A>G UCEC-US 3 153995424 153995424 single base substitution T C missense_variant N870S 2609A>G UCEC-US 3 153995424 153995424 single base substitution T C missense_variant N884S 2651A>G UCEC-US 3 153995424 153995424 single base substitution T C synonymous_variant ?798 UCEC-US 3 154002443 154002443 single base substitution C T downstream_gene_variant UCEC-US 3 154002443 154002443 single base substitution C T exon_variant UCEC-US 3 154002443 154002443 single base substitution C T intron_variant UCEC-US 3 154002443 154002443 single base substitution C T missense_variant A655T 1963G>A UCEC-US 3 154002443 154002443 single base substitution C T missense_variant A727T 2179G>A UCEC-US 3 154002443 154002443 single base substitution C T missense_variant A741T 2221G>A UCEC-US 3 154002443 154002443 single base substitution C T synonymous_variant ?187 UCEC-US 3 154002443 154002443 single base substitution C T upstream_gene_variant UCEC-US 3 154002693 154002693 single base substitution C A exon_variant UCEC-US 3 154002693 154002693 single base substitution C A missense_variant M151I 453G>T UCEC-US 3 154002693 154002693 single base substitution C A missense_variant M619I 1857G>T UCEC-US 3 154002693 154002693 single base substitution C A missense_variant M691I 2073G>T UCEC-US 3 154002693 154002693 single base substitution C A missense_variant M705I 2115G>T UCEC-US 3 154002693 154002693 single base substitution C A upstream_gene_variant UCEC-US 3 154007560 154007560 single base substitution C T exon_variant UCEC-US 3 154007560 154007560 single base substitution C T missense_variant D103N 307G>A UCEC-US 3 154007560 154007560 single base substitution C T missense_variant D538N 1612G>A UCEC-US 3 154007560 154007560 single base substitution C T missense_variant D610N 1828G>A UCEC-US 3 154007560 154007560 single base substitution C T missense_variant D624N 1870G>A UCEC-US 3 154007560 154007560 single base substitution C T upstream_gene_variant UCEC-US 3 154010428 154010428 single base substitution G A missense_variant H490Y 1468C>T UCEC-US 3 154010428 154010428 single base substitution G A missense_variant H55Y 163C>T UCEC-US 3 154010428 154010428 single base substitution G A missense_variant H562Y 1684C>T UCEC-US 3 154010428 154010428 single base substitution G A missense_variant H576Y 1726C>T UCEC-US 3 154010428 154010428 single base substitution G A upstream_gene_variant UCEC-US 3 154013122 154013122 single base substitution A C intron_variant UCEC-US 3 154013122 154013122 single base substitution A C missense_variant F433C 1298T>G UCEC-US 3 154013122 154013122 single base substitution A C missense_variant F519C 1556T>G UCEC-US 3 154013122 154013122 single base substitution A C upstream_gene_variant UCEC-US 3 154021159 154021159 single base substitution C G exon_variant UCEC-US 3 154021159 154021159 single base substitution C G synonymous_variant P306P 918G>C UCEC-US 3 154021159 154021159 single base substitution C G synonymous_variant P392P 1176G>C UCEC-US 3 154022722 154022722 single base substitution G T downstream_gene_variant UCEC-US 3 154022722 154022722 single base substitution G T exon_variant UCEC-US 3 154022722 154022722 single base substitution G T synonymous_variant I250I 750C>A UCEC-US 3 154022722 154022722 single base substitution G T synonymous_variant I336I 1008C>A UCEC-US 3 154029441 154029441 single base substitution G A downstream_gene_variant UCEC-US 3 154029441 154029441 single base substitution G A exon_variant UCEC-US 3 154029441 154029441 single base substitution G A missense_variant S123L 368C>T UCEC-US 3 154029441 154029441 single base substitution G A missense_variant S209L 626C>T UCEC-US 3 154033003 154033003 single base substitution C A exon_variant UCEC-US 3 154033003 154033003 single base substitution C A missense_variant K145N 435G>T UCEC-US 3 154033003 154033003 single base substitution C A missense_variant K59N 177G>T UCEC-US 3 154033003 154033003 single base substitution C A upstream_gene_variant UCEC-US 3 154033949 154033949 single base substitution C T 5_prime_UTR_variant UCEC-US 3 154033949 154033949 single base substitution C T exon_variant UCEC-US 3 154033949 154033949 single base substitution C T missense_variant A83T 247G>A UCEC-US 3 154033949 154033949 single base substitution C T upstream_gene_variant UCEC-US 3 154041969 154041969 single base substitution C T exon_variant UCEC-US 3 154041969 154041969 single base substitution C T synonymous_variant R79R 237G>A UCEC-US 3 154041969 154041969 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 2492701 COSM5599388 c.2589C>T p.T863T Substitution - coding silent 3:154277697-154277697 - 1946219 COSM1578403 c.2292+2_2292+3insA p.? Unknown 3:154284580-154284581 - TCGA-EB-A5UN-06 COSM3915179 c.883C>T p.R295C Substitution - Missense 3:154306226-154306226 - I2L-P19Ta-Tumor-Organoid COSM5367640 c.86_87insG p.H30fs*4 Insertion - Frameshift 3:154324330-154324331 - TCGA-B6-A402-01 COSM4391669 c.2400G>C p.Q800H Substitution - Missense 3:154280839-154280839 - Pat_05_A COSM5863789 c.2009C>T p.S670F Substitution - Missense 3:154288888-154288888 - TCGA-B2-5633-01 COSM479606 c.1223T>A p.V408D Substitution - Missense 3:154301122-154301122 - 587220 COSM1203546 c.2707A>G p.T903A Substitution - Missense 3:154276881-154276881 - HCT116 COSM1040199 c.1725G>A p.T575T Substitution - coding silent 3:154292640-154292640 - 61 COSM5736799 c.3023G>A p.S1008N Substitution - Missense 3:154276175-154276175 - TCGA-AP-A0LM-01 COSM1040205 c.1008C>A p.I336I Substitution - coding silent 3:154304933-154304933 - AOCS-120-3-6 COSM3004452 c.219G>A p.K73K Substitution - coding silent 3:154324198-154324198 - TCGA-BR-7707-01 COSM728641 c.1469C>T p.A490V Substitution - Missense 3:154299918-154299918 - TCGA-GV-A3QF-01 COSM3774659 c.1271A>G p.Q424R Substitution - Missense 3:154301074-154301074 - TCGA-G4-6628-01 COSM1420109 c.2560delA p.R854fs*4 Deletion - Frameshift 3:154280586-154280586 - T3262 COSM4677405 c.2739delT p.F913fs*18 Deletion - Frameshift 3:154276849-154276849 - TCGA-EE-A29L-06 COSM3588959 c.1823C>T p.P608L Substitution - Missense 3:154289818-154289818 - LUAD-NYU704 COSM376198 c.62G>A p.G21D Substitution - Missense 3:154324355-154324355 - 587278 COSM1180946 c.1815-4delT p.? Unknown 3:154289830-154289830 - S00944 COSM310560 c.565C>T p.Q189* Substitution - Nonsense 3:154315084-154315084 - TCGA-DK-A3WW-01 COSM3774657 c.2108G>A p.G703E Substitution - Missense 3:154284911-154284911 - TCGA-BR-6453-01 COSM4114614 c.2638G>A p.D880N Substitution - Missense 3:154277648-154277648 - ccRCC-61 COSM1661444 c.907A>G p.K303E Substitution - Missense 3:154305155-154305155 - PD9574a COSM1420116 c.587G>A p.R196Q Substitution - Missense 3:154315062-154315062 - TCGA-BR-7707-01 COSM4114646 c.539T>C p.L180S Substitution - Missense 3:154315110-154315110 - TCGA-AP-A0LF-01 COSM1040215 c.187G>C p.G63R Substitution - Missense 3:154324230-154324230 - 587224 COSM1203548 c.1739A>G p.Q580R Substitution - Missense 3:154292626-154292626 - TCGA-F5-6814-01 COSM1040209 c.435G>T p.K145N Substitution - Missense 3:154315214-154315214 - pfg016T COSM1420119 c.460delA p.M154fs*27 Deletion - Frameshift 3:154315189-154315189 - TCGA-BR-6452-01 COSM4114627 c.1846A>C p.N616H Substitution - Missense 3:154289795-154289795 - C086 COSM1040207 c.626C>T p.S209L Substitution - Missense 3:154311652-154311652 - TCGA-AP-A056-01 COSM1040209 c.435G>T p.K145N Substitution - Missense 3:154315214-154315214 - TCGA-BR-8384-01 COSM4114631 c.1811G>A p.G604E Substitution - Missense 3:154292554-154292554 - ACINAR13 COSM1733463 c.43C>G p.P15A Substitution - Missense 3:154324374-154324374 - TCGA-DD-A119-01 COSM4919927 c.2467A>G p.I823V Substitution - Missense 3:154280772-154280772 - GC_315T-GC_315N COSM4773766 c.2502C>G p.V834V Substitution - coding silent 3:154280644-154280644 - CPCG0410-F1 COSM4881121 c.782G>T p.C261F Substitution - Missense 3:154309684-154309684 - TCGA-AX-A05Z-01 COSM1040211 c.247G>A p.A83T Substitution - Missense 3:154316160-154316160 - YUBER COSM1693629 c.949C>T p.Q317* Substitution - Nonsense 3:154305113-154305113 - S0069 COSM5883752 c.1258A>T p.R420W Substitution - Missense 3:154301087-154301087 - pfg019T COSM1642147 c.1273G>T p.G425W Substitution - Missense 3:154301072-154301072 - 026T COSM1728125 c.326A>G p.E109G Substitution - Missense 3:154316081-154316081 - HCT15 COSM1670658 c.130G>T p.G44W Substitution - Missense 3:154324287-154324287 - TCGA-HU-A4GN-01 COSM4114623 c.2035G>A p.A679T Substitution - Missense 3:154284984-154284984 - PD13619a COSM5783614 c.368+5G>A p.? Unknown 3:154316034-154316034 - 587220 COSM1203547 c.152G>A p.G51D Substitution - Missense 3:154324265-154324265 - TCGA-HU-A4GQ-01 COSM4114616 c.2266C>T p.H756Y Substitution - Missense 3:154284609-154284609 - T3225 COSM4677413 c.156G>A p.R52R Substitution - coding silent 3:154324261-154324261 - NB2136 COSM4114650 c.368+2T>C p.? Unknown 3:154316037-154316037 - TCGA-G4-6302-01 COSM3695878 c.2328C>T p.Y776Y Substitution - coding silent 3:154283236-154283236 - 2492703 COSM5599388 c.2589C>T p.T863T Substitution - coding silent 3:154277697-154277697 - CRC-19T COSM5481795 c.2033A>G p.N678S Substitution - Missense 3:154284986-154284986 - D10 COSM5007012 c.915T>G p.G305G Substitution - coding silent 3:154305147-154305147 - TCGA-BR-4292-01 COSM4114629 c.1831T>A p.C611S Substitution - Missense 3:154289810-154289810 - TCGA-CG-5726-01 COSM4114640 c.1011T>G p.H337Q Substitution - Missense 3:154304930-154304930 - TCGA-BQ-7056-01 COSM3992835 c.1978G>A p.D660N Substitution - Missense 3:154288919-154288919 - TCGA-EE-A2M5-06 COSM3588957 c.2312G>A p.R771Q Substitution - Missense 3:154283252-154283252 - CSCC-44-T COSM4499787 c.54C>T p.S18S Substitution - coding silent 3:154324363-154324363 - 2492702 COSM5599388 c.2589C>T p.T863T Substitution - coding silent 3:154277697-154277697 - TCGA-B0-4842-01 COSM479605 c.1388A>T p.E463V Substitution - Missense 3:154300667-154300667 - TCGA-EQ-A4SO-01 COSM4114644 c.844G>A p.E282K Substitution - Missense 3:154306265-154306265 - TCGA-BR-8679-01 COSM4114638 c.1559T>A p.L520* Substitution - Nonsense 3:154295330-154295330 - TCGA-EA-A3HR-01 COSM4843298 c.1270C>T p.Q424* Substitution - Nonsense 3:154301075-154301075 - TCGA-BP-5174-01 COSM479607 c.936A>T p.T312T Substitution - coding silent 3:154305126-154305126 - ESCC-116T COSM3940351 c.2880G>A p.K960K Substitution - coding silent 3:154276318-154276318 - S0035 COSM5883754 c.467G>T p.R156I Substitution - Missense 3:154315182-154315182 - TCGA-AP-A0L9-01 COSM1040189 c.2528T>C p.V843A Substitution - Missense 3:154280618-154280618 - 45 COSM1203549 c.493C>T p.R165* Substitution - Nonsense 3:154315156-154315156 - TCGA-BH-A0B6-01 COSM3846561 c.140G>A p.R47Q Substitution - Missense 3:154324277-154324277 - BD236T COSM1180946 c.1815-4delT p.? Unknown 3:154289830-154289830 - TCGA-RP-A694-06 COSM4894346 c.1453G>A p.E485K Substitution - Missense 3:154300602-154300602 - C0079T COSM4152994 c.1274G>A p.G425E Substitution - Missense 3:154301071-154301071 - S00944 COSM310561 c.178C>A p.R60S Substitution - Missense 3:154324239-154324239 - GC_312T-GC_312N COSM4773633 c.2205+7A>G p.? Unknown 3:154284807-154284807 - TCGA-D3-A2JH-06 COSM23511 c.586C>T p.R196W Substitution - Missense 3:154315063-154315063 - TCGA-AX-A0J1-01 COSM1040197 c.1726C>T p.H576Y Substitution - Missense 3:154292639-154292639 - 2530678 COSM1040199 c.1725G>A p.T575T Substitution - coding silent 3:154292640-154292640 - TCGA-AA-3663-01 COSM1420114 c.886C>T p.L296F Substitution - Missense 3:154306223-154306223 - HCT15 COSM3004431 c.1496A>T p.D499V Substitution - Missense 3:154299891-154299891 - 2334195 COSM319878 c.508C>A p.L170I Substitution - Missense 3:154315141-154315141 - TCGA-BR-8680-01 COSM4114618 c.2216A>C p.K739T Substitution - Missense 3:154284659-154284659 - T1743 COSM4677407 c.1914A>G p.E638E Substitution - coding silent 3:154289727-154289727 - YUKAT COSM5398444 c.2069G>A p.G690E Substitution - Missense 3:154284950-154284950 - MZ7-mel COSM23511 c.586C>T p.R196W Substitution - Missense 3:154315063-154315063 - TCGA-G9-6342-01 COSM3673867 c.163G>T p.G55W Substitution - Missense 3:154324254-154324254 - TCGA-BR-8487-01 COSM4114650 c.368+2T>C p.? Unknown 3:154316037-154316037 - 169 COSM3729266 c.2389A>G p.M797V Substitution - Missense 3:154280850-154280850 - 90405 COSM329306 c.2119C>G p.L707V Substitution - Missense 3:154284900-154284900 - RK268_C01 COSM4945461 c.2428T>C p.F810L Substitution - Missense 3:154280811-154280811 - TCGA-AX-A0J1-01 COSM1040191 c.2221G>A p.A741T Substitution - Missense 3:154284654-154284654 - HCC163T COSM3660273 c.1036T>G p.L346V Substitution - Missense 3:154304905-154304905 - CPCG0409-F1 COSM4966374 c.1729T>A p.F577I Substitution - Missense 3:154292636-154292636 - RD COSM3004419 c.2503A>G p.I835V Substitution - Missense 3:154280643-154280643 - 1_RESISTANT COSM1721202 c.460_461insA p.M154fs*3 Insertion - Frameshift 3:154315188-154315189 - DLD1 COSM1670658 c.130G>T p.G44W Substitution - Missense 3:154324287-154324287 - Gp5D COSM3004433 c.1398G>A p.E466E Substitution - coding silent 3:154300657-154300657 - TCGA-DJ-A3VE-01 COSM3373062 c.353C>G p.A118G Substitution - Missense 3:154316054-154316054 - 970010 COSM1582564 c.1596C>G p.N532K Substitution - Missense 3:154295293-154295293 - LUAD-E01278 COSM394272 c.694A>G p.T232A Substitution - Missense 3:154309772-154309772 - I2L-P23-Tumor-Biopsy COSM5355402 c.2013A>C p.I671I Substitution - coding silent 3:154288884-154288884 - ESCC_158 COSM5646842 c.2539C>T p.R847* Substitution - Nonsense 3:154280607-154280607 - HCT8 COSM3004431 c.1496A>T p.D499V Substitution - Missense 3:154299891-154299891 - TCGA-B5-A0JY-01 COSM1040201 c.1556T>G p.F519C Substitution - Missense 3:154295333-154295333 - TCGA-CJ-4892-01 COSM3365053 c.299A>T p.N100I Substitution - Missense 3:154316108-154316108 - BD165T COSM5506139 c.1438C>T p.R480* Substitution - Nonsense 3:154300617-154300617 - 030-0066-01TD COSM145312 c.590A>G p.Y197C Substitution - Missense 3:154315059-154315059 - HCC163T COSM3660272 c.1554A>G p.K518K Substitution - coding silent 3:154295335-154295335 - ESCC_BICR_020T COSM5429223 c.3005T>C p.F1002S Substitution - Missense 3:154276193-154276193 - TCGA-AG-A002-01 COSM260418 c.1616G>T p.R539I Substitution - Missense 3:154293802-154293802 - I2L-P23-Tumor-Organoid COSM5355402 c.2013A>C p.I671I Substitution - coding silent 3:154288884-154288884 - 587338 COSM1203549 c.493C>T p.R165* Substitution - Nonsense 3:154315156-154315156 - TCGA-BR-4257-01 COSM4114636 c.1640T>A p.I547K Substitution - Missense 3:154293778-154293778 - LIM1899 COSM3004418 c.2560_2561insA p.R854fs*19 Insertion - Frameshift 3:154280585-154280586 - GC_319T-GC_319N COSM4772245 c.2497G>A p.A833T Substitution - Missense 3:154280649-154280649 - TCGA-AZ-4315-01 COSM1420113 c.1593T>C p.V531V Substitution - coding silent 3:154295296-154295296 - TCGA-AP-A056-01 COSM1040195 c.1870G>A p.D624N Substitution - Missense 3:154289771-154289771 - TCGA-HU-A4GN-01 COSM4114633 c.1804C>T p.R602* Substitution - Nonsense 3:154292561-154292561 - LUAD-S01357 COSM387380 c.2754C>A p.S918S Substitution - coding silent 3:154276834-154276834 - PCSI_0328_Pa_P_526 COSM4965401 c.1147A>G p.M383V Substitution - Missense 3:154303399-154303399 - HCT-15 COSM1670658 c.130G>T p.G44W Substitution - Missense 3:154324287-154324287 - 1N35-VS-1T35 COSM4974855 c.1761C>T p.S587S Substitution - coding silent 3:154292604-154292604 - TCGA-B5-A0JY-01 COSM1040193 c.2115G>T p.M705I Substitution - Missense 3:154284904-154284904 - ESO-859 COSM1238671 c.2376+1G>A p.? Unknown 3:154283187-154283187 - TCGA-BR-8680-01 COSM1040193 c.2115G>T p.M705I Substitution - Missense 3:154284904-154284904 - RK210_C01 COSM3767107 c.2755A>T p.I919F Substitution - Missense 3:154276833-154276833 - TCGA-CG-4305-01 COSM728641 c.1469C>T p.A490V Substitution - Missense 3:154299918-154299918 - pfg017T COSM1420119 c.460delA p.M154fs*27 Deletion - Frameshift 3:154315189-154315189 - TP_2054 COSM5562567 c.1487C>T p.P496L Substitution - Missense 3:154299900-154299900 - CRC-06T COSM5457031 c.2286G>A p.A762A Substitution - coding silent 3:154284589-154284589 - 030 COSM145312 c.590A>G p.Y197C Substitution - Missense 3:154315059-154315059 - TCGA-D9-A1JW-06 COSM3588955 c.2486A>T p.K829M Substitution - Missense 3:154280660-154280660 - ESCC_133 COSM5642575 c.2460A>T p.E820D Substitution - Missense 3:154280779-154280779 - CH-LA1 COSM4166249 c.2356C>G p.L786V Substitution - Missense 3:154283208-154283208 - TCGA-DA-A1HV-06 COSM3588961 c.1547C>T p.S516L Substitution - Missense 3:154299840-154299840 - Au2 COSM5599388 c.2589C>T p.T863T Substitution - coding silent 3:154277697-154277697 - TCGA-66-2757-01 COSM728640 c.853G>T p.G285C Substitution - Missense 3:154306256-154306256 - TCGA-JX-A3Q0-01 COSM4824627 c.1949G>A p.G650E Substitution - Missense 3:154288948-154288948 - LP6007409-DNA_A01 COSM5953360 c.2935G>A p.V979I Substitution - Missense 3:154276263-154276263 - CSCC-17-T COSM4460262 c.1159C>T p.P387S Substitution - Missense 3:154303387-154303387 - SNU-C4 COSM4653644 c.2460A>G p.E820E Substitution - coding silent 3:154280779-154280779 - sysucc-311T COSM5465753 c.2862T>C p.D954D Substitution - coding silent 3:154276336-154276336 - pfg065T COSM4748015 c.1611_1632del22 p.K538fs*3 Deletion - Frameshift 3:154293786-154293807 - LUAD-2GUGK COSM404820 c.1897delA p.R633fs*11 Deletion - Frameshift 3:154289744-154289744 - 72 COSM5744547 c.1531C>A p.Q511K Substitution - Missense 3:154299856-154299856 - CSCC-45-T COSM3915179 c.883C>T p.R295C Substitution - Missense 3:154306226-154306226 - TCGA-AD-6964-01 COSM1420115 c.599T>C p.M200T Substitution - Missense 3:154315050-154315050 - HCC163 COSM3660272 c.1554A>G p.K518K Substitution - coding silent 3:154295335-154295335 - 446 COSM4435019 c.2104delA p.I702fs*4 Deletion - Frameshift 3:154284915-154284915 - TCGA-B5-A0JY-01 COSM1040207 c.626C>T p.S209L Substitution - Missense 3:154311652-154311652 - TCGA-AP-A05H-01 COSM1040183 c.3000A>C p.P1000P Substitution - coding silent 3:154276198-154276198 - T3724 COSM3004418 c.2560_2561insA p.R854fs*19 Insertion - Frameshift 3:154280585-154280586 - pfg019T COSM1642148 c.461_462insA p.M154fs*3 Insertion - Frameshift 3:154315187-154315188 - TCGA-D1-A17H-01 COSM1040185 c.2900T>C p.V967A Substitution - Missense 3:154276298-154276298 - LIM2551 COSM4644503 c.2595C>T p.G865G Substitution - coding silent 3:154277691-154277691 - PD6346a COSM1040205 c.1008C>A p.I336I Substitution - coding silent 3:154304933-154304933 - TCGA-B0-5701-01 COSM479604 c.2235A>G p.R745R Substitution - coding silent 3:154284640-154284640 - T2269 COSM4677409 c.269G>A p.R90Q Substitution - Missense 3:154316138-154316138 - 1517_CLM COSM5756193 c.2021T>C p.L674P Substitution - Missense 3:154288876-154288876 - TCGA-CZ-4854-01 COSM3365051 c.1232A>G p.Q411R Substitution - Missense 3:154301113-154301113 - TCGA-B5-A0JY-01 COSM1040213 c.237G>A p.R79R Substitution - coding silent 3:154324180-154324180 - TCGA-CM-6674-01 COSM1420111 c.2113_2114insA p.M705fs*20 Insertion - Frameshift 3:154284905-154284906 - KM12 COSM1040185 c.2900T>C p.V967A Substitution - Missense 3:154276298-154276298 - QC2-32-T2 COSM5653987 c.2124T>C p.F708F Substitution - coding silent 3:154284895-154284895 - TCGA-A7-A0CH-01 COSM445834 c.2620G>A p.V874I Substitution - Missense 3:154277666-154277666 - HCT8 COSM4634927 c.2964A>G p.K988K Substitution - coding silent 3:154276234-154276234 - TCGA-BR-4361-01 COSM4114621 c.2114T>C p.M705T Substitution - Missense 3:154284905-154284905 - TCGA-EE-A2M6-06 COSM3588963 c.657A>G p.L219L Substitution - coding silent 3:154309809-154309809 - TCGA-22-5491-01 COSM728643 c.2314C>T p.R772C Substitution - Missense 3:154283250-154283250 - S00944 COSM310560 c.565C>T p.Q189* Substitution - Nonsense 3:154315084-154315084 - HCC163 COSM3660273 c.1036T>G p.L346V Substitution - Missense 3:154304905-154304905 - TCGA-HU-A4GU-01 COSM1040199 c.1725G>A p.T575T Substitution - coding silent 3:154292640-154292640 - PD9582a COSM5646842 c.2539C>T p.R847* Substitution - Nonsense 3:154280607-154280607 - PCSI_0325_Pa_P_526 COSM4809163 c.2300A>G p.E767G Substitution - Missense 3:154283264-154283264 - TCGA-DY-A1H8-01 COSM1566637 c.1622C>T p.P541L Substitution - Missense 3:154293796-154293796 - TCGA-BR-4184-01 COSM4114642 c.994G>A p.V332I Substitution - Missense 3:154304947-154304947 - TCGA-AC-A23H-01 COSM3846559 c.319G>A p.D107N Substitution - Missense 3:154316088-154316088 - TCGA-CH-5748-01 COSM1130310 c.135T>G p.G45G Substitution - coding silent 3:154324282-154324282 - TCGA-AC-A23H-01 COSM3846557 c.2971G>A p.E991K Substitution - Missense 3:154276227-154276227 - TCGA-G4-6302-01 COSM3004427 c.1685A>G p.D562G Substitution - Missense 3:154292680-154292680 - YUSPO COSM5398446 c.1756A>G p.M586V Substitution - Missense 3:154292609-154292609 - 412 COSM4431085 c.2371C>G p.L791V Substitution - Missense 3:154283193-154283193 - TCGA-EE-A2GU-06 COSM3588968 c.88C>T p.H30Y Substitution - Missense 3:154324329-154324329 - P05-3859 COSM244031 c.549A>C p.K183N Substitution - Missense 3:154315100-154315100 - TCGA-BR-6852-01 COSM4114625 c.2016A>G p.R672R Substitution - coding silent 3:154288881-154288881 - STC243 COSM5059428 c.1993G>A p.E665K Substitution - Missense 3:154288904-154288904 - S00944 COSM310561 c.178C>A p.R60S Substitution - Missense 3:154324239-154324239 - pfg088T COSM4762913 c.2101C>T p.H701Y Substitution - Missense 3:154284918-154284918 - ccRCC-24 COSM1661442 c.2564A>T p.K855I Substitution - Missense 3:154280582-154280582 - TCGA-AM-5821-01 COSM3759840 c.1247C>G p.S416C Substitution - Missense 3:154301098-154301098 - TCGA-EB-A4IS-01 COSM3588966 c.116G>A p.G39D Substitution - Missense 3:154324301-154324301 - 2492700 COSM5599388 c.2589C>T p.T863T Substitution - coding silent 3:154277697-154277697 - I2L-P7-Tumor-Organoid COSM5355037 c.2124delT p.F708fs*8 Deletion - Frameshift 3:154284895-154284895 - T2944 COSM4677403 c.2769C>T p.N923N Substitution - coding silent 3:154276819-154276819 - BD124T COSM3004457 c.117C>A p.G39G Substitution - coding silent 3:154324300-154324300 - ESO-0149 COSM1250059 c.1075G>A p.D359N Substitution - Missense 3:154304866-154304866 - TCGA-AZ-4315-01 COSM23511 c.586C>T p.R196W Substitution - Missense 3:154315063-154315063 - TCGA-43-3394-01 COSM728641 c.1469C>T p.A490V Substitution - Missense 3:154299918-154299918 - TCGA-D1-A101-01 COSM1040199 c.1725G>A p.T575T Substitution - coding silent 3:154292640-154292640 - TCGA-BR-6452-01 COSM4114648 c.390T>C p.T130T Substitution - coding silent 3:154315259-154315259 - KM12 COSM1040185 c.2900T>C p.V967A Substitution - Missense 3:154276298-154276298 - S01366 COSM5668210 c.1309G>C p.A437P Substitution - Missense 3:154301036-154301036 - TCGA-AZ-4315-01 COSM1420110 c.2329G>A p.E777K Substitution - Missense 3:154283235-154283235 - RK209_C01 COSM1632912 c.2458G>T p.E820* Substitution - Nonsense 3:154280781-154280781 - TCGA-BP-4989-01 COSM479603 c.2699A>G p.Y900C Substitution - Missense 3:154276889-154276889 - T3080 COSM4677415 c.76C>T p.P26S Substitution - Missense 3:154324341-154324341 - 416 COSM4431498 c.2721A>G p.P907P Substitution - coding silent 3:154276867-154276867 - HDC82 COSM4636723 c.47G>A p.R16H Substitution - Missense 3:154324370-154324370 - TCGA-D1-A101-01 COSM1040203 c.1176G>C p.P392P Substitution - coding silent 3:154303370-154303370 - DLD1 COSM3004431 c.1496A>T p.D499V Substitution - Missense 3:154299891-154299891 - TCGA-BF-A1PZ-01 COSM4399389 c.658A>C p.I220L Substitution - Missense 3:154309808-154309808 - 2492729 COSM5727846 c.1534G>A p.V512I Substitution - Missense 3:154299853-154299853 - HCC122 COSM3660275 c.668A>G p.H223R Substitution - Missense 3:154309798-154309798 - STC246 COSM5059424 c.2931T>A p.C977* Substitution - Nonsense 3:154276267-154276267 - STC252 COSM5059426 c.2639A>T p.D880V Substitution - Missense 3:154277647-154277647 - Pat_05_B COSM5863789 c.2009C>T p.S670F Substitution - Missense 3:154288888-154288888 - TCGA-D5-6928-01 COSM1420120 c.82G>T p.G28W Substitution - Missense 3:154324335-154324335 - NOKSI COSM4595978 c.2040G>C p.L680F Substitution - Missense 3:154284979-154284979 - CSCC-10-T COSM4537233 c.2396G>A p.G799E Substitution - Missense 3:154280843-154280843 - HCC122T COSM3660275 c.668A>G p.H223R Substitution - Missense 3:154309798-154309798 - ESO-0125 COSM1250058 c.306T>C p.V102V Substitution - coding silent 3:154316101-154316101 - ccRCC-93 COSM1661443 c.2207G>A p.G736E Substitution - Missense 3:154284668-154284668 - 587376 COSM1203551 c.1306G>T p.E436* Substitution - Nonsense 3:154301039-154301039 - CSCC-16-T COSM4494097 c.426C>T p.I142I Substitution - coding silent 3:154315223-154315223 - T1743 COSM4677411 c.180C>G p.R60R Substitution - coding silent 3:154324237-154324237 - TCGA-C4-A0F1-01 COSM419757 c.1225C>G p.P409A Substitution - Missense 3:154301120-154301120 - TCGA-39-5037-01 COSM728642 c.1684G>A p.D562N Substitution - Missense 3:154292681-154292681 - TCGA-BR-8680-01 COSM4114652 c.21G>T p.Q7H Substitution - Missense 3:154324396-154324396 - TCGA-D1-A15X-01 COSM1040187 c.2651A>G p.N884S Substitution - Missense 3:154277635-154277635 - 587376 COSM1203550 c.2393A>C p.K798T Substitution - Missense 3:154280846-154280846 - I2L-P16-Tumor-Biopsy COSM5355170 c.82G>C p.G28R Substitution - Missense 3:154324335-154324335 - pfg068T COSM1420119 c.460delA p.M154fs*27 Deletion - Frameshift 3:154315189-154315189 - PM-6 COSM5619872 c.1364C>T p.S455F Substitution - Missense 3:154300691-154300691 - ESCC_BICR_055T COSM1721202 c.460_461insA p.M154fs*3 Insertion - Frameshift 3:154315188-154315189 - TCGA-F5-6814-01 COSM3427249 c.1933-2A>G p.? Unknown 3:154288966-154288966 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.446265;Hs.446266;Hs.446268;Hs.446269;Hs.446270 3q25.2 612767 2420150|CGAP|BC036035|C/G|coding|Cys416Ser|1291|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.H337Q c.1011T>G 3 154022719 STAD A C Synonymous p.G45G c.135T>G 3 154042071 PRAD A G Synonymous p.V102V c.306T>C 3 154033890 ESCA A T Missense p.C611S c.1831T>A 3 154007599 STAD A T Missense p.I547K c.1640T>A 3 154011567 STAD A T Missense p.V408D c.1223T>A 3 154018911 RCCC C A IntronicSNV . c.2205+35G>T 3 154002568 PIA C A Missense p.G285C c.853G>T 3 154024045 LUSC C A Missense p.G425W c.1273G>T 3 154018861 STAD C A Missense p.L364F c.1092G>T 3 154022638 HNSC C - Frameshift p.G235Afs*25 c.704delG 3 154027551 LUAD CG AT Missense p.R602I c.1804_1805delinsAT 3 154010349 CM C G Synonymous p.P392P c.1176G>C 3 154021159 UCEC C T Missense p.D359N c.1075G>A 3 154022655 ESCA C T Missense p.D562N c.1684G>A 3 154010470 LUSC C T Missense p.D880N c.2638G>A 3 153995437 STAD C T Missense p.R251K c.752G>A 3 154027503 LUAD C T Missense p.R299Q c.896G>A 3 154022955 HNSC C T Missense p.R451Q c.1352G>A 3 154018782 CM C T Missense p.R771Q c.2312G>A 3 154001041 CM C T Missense p.V874I c.2620G>A 3 153995455 BRCA C T SpliceDonorSNV . c.2376+1G>A 3 154000976 ESCA C T Synonymous p.L527L c.1581G>A 3 154013097 HNSC G A 3-UTRSNV . c.3024+103C>T 3 153993860 CM G A Missense p.A490V c.1469C>T 3 154017707 LUSC G A Missense p.A490V c.1469C>T 3 154017707 STAD G A Missense p.H30Y c.88C>T 3 154042118 CM G A Missense p.P608L c.1823C>T 3 154007607 CM G A Missense p.P730S c.2188C>T 3 154002620 CM G A Missense p.R196W c.586C>T 3 154032852 CM G A Missense p.R772C c.2314C>T 3 154001039 LUSC G A Missense p.S209L c.626C>T 3 154029441 CM G A Missense p.S516L c.1547C>T 3 154017629 CM G A Nonsense p.Q189* c.565C>T 3 154032873 SCLC G A Nonsense p.Q239* c.715C>T 3 154027540 HNSC G A Synonymous p.L57L c.169C>T 3 154042037 CM G C Missense p.P409A c.1225C>G 3 154018909 BLCA G T Missense p.L170I c.508C>A 3 154032930 SCLC G T Missense p.R60S c.178C>A 3 154042028 SCLC G T Synonymous p.P697P c.2091C>A 3 154002717 CM T A Missense p.E463V c.1388A>T 3 154018456 RCCC T A Missense p.N100I c.299A>T 3 154033897 RCCC T A Synonymous p.T312T c.936A>T 3 154022915 RCCC T C Missense p.Q411R c.1232A>G 3 154018902 RCCC T C Missense p.Y197C c.590A>G 3 154032848 CLL T C Missense p.Y900C c.2699A>G 3 153994678 RCCC T C SpliceAcceptorSNV . c.1606-2A>G 3 154011603 LUAD T C Synonymous p.K600K c.1800A>G 3 154010354 CM T C Synonymous p.L219L c.657A>G 3 154027598 CM T C Synonymous p.R672R c.2016A>G 3 154006670 STAD T C Synonymous p.V459V c.1377A>G 3 154018467 HNSC T - Frameshift p.M154Cfs*27 c.460delA 3 154032978 STAD - T Frameshift p.M154Nfs*3 c.460dupA 3 154032979 STAD T G 3-UTRSNV . c.3024+74A>C 3 153993889 HC T G Missense p.I220L c.658A>C 3 154027597 CM T G Synonymous p.P1000P c.3000A>C 3 153993987 UCEC