Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 7 76111983 76111983 + Missense_Mutation SNP G G A TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr7:76111983G>A c.427G>A c.(427-429)Gtg>Atg p.V143M ACC 7 76112242 76112242 + Frame_Shift_Del DEL A A - TCGA-OR-A5LB-01A-11D-A29I-10 TCGA-OR-A5LB-10A-01D-A29L-10 g.chr7:76112242delA c.686delA c.(685-687)cacfs p.H229fs BLCA 7 76110031 76110031 + Missense_Mutation SNP G G C TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr7:76110031G>C c.205G>C c.(205-207)Gac>Cac p.D69H BLCA 7 76111940 76111940 + Silent SNP C C T TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr7:76111940C>T c.384C>T c.(382-384)gtC>gtT p.V128V BLCA 7 76112191 76112191 + Missense_Mutation SNP G G T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 g.chr7:76112191G>T c.635G>T c.(634-636)gGc>gTc p.G212V BLCA 7 76112462 76112462 + Silent SNP C C T TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr7:76112462C>T c.906C>T c.(904-906)gtC>gtT p.V302V BLCA 7 76126675 76126675 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 g.chr7:76126675C>T c.1031C>T c.(1030-1032)tCa>tTa p.S344L BLCA 7 76126698 76126698 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr7:76126698C>T c.1054C>T c.(1054-1056)Ctt>Ttt p.L352F BLCA 7 76132904 76132904 + Splice_Site SNP G G A TCGA-DK-AA77-01A-11D-A391-08 TCGA-DK-AA77-10A-01D-A394-08 g.chr7:76132904G>A c.1551G>A c.(1549-1551)caG>caA p.Q517Q BLCA 7 76134792 76134792 + Missense_Mutation SNP C C G TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr7:76134792C>G c.1743C>G c.(1741-1743)atC>atG p.I581M BRCA 7 76111950 76111950 + Missense_Mutation SNP C C G TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 g.chr7:76111950C>G c.394C>G c.(394-396)Ctg>Gtg p.L132V BRCA 7 76126704 76126704 + Missense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 g.chr7:76126704C>T c.1060C>T c.(1060-1062)Cgc>Tgc p.R354C BRCA 7 76126735 76126735 + Missense_Mutation SNP C C T TCGA-E9-A1RD-01A-11D-A159-09 TCGA-E9-A1RD-10A-01D-A159-09 g.chr7:76126735C>T c.1091C>T c.(1090-1092)tCc>tTc p.S364F CESC 7 76112111 76112111 + Silent SNP C C T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 g.chr7:76112111C>T c.555C>T c.(553-555)atC>atT p.I185I COAD 7 76111908 76111908 + Missense_Mutation SNP G G A TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr7:76111908G>A c.352G>A c.(352-354)Gat>Aat p.D118N COAD 7 76111908 76111908 + Missense_Mutation SNP G G A TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr7:76111908G>A c.352G>A c.(352-354)Gat>Aat p.D118N COAD 7 76111909 76111909 + Missense_Mutation SNP A A G TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr7:76111909A>G c.353A>G c.(352-354)gAt>gGt p.D118G COAD 7 76112076 76112076 + Missense_Mutation SNP C C T TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr7:76112076C>T c.520C>T c.(520-522)Cgc>Tgc p.R174C COAD 7 76112227 76112227 + Missense_Mutation SNP A A G TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr7:76112227A>G c.671A>G c.(670-672)tAc>tGc p.Y224C COAD 7 76134774 76134774 + Silent SNP C C T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr7:76134774C>T c.1725C>T c.(1723-1725)acC>acT p.T575T COAD 7 76134787 76134787 + Missense_Mutation SNP G G A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr7:76134787G>A c.1738G>A c.(1738-1740)Gag>Aag p.E580K COADREAD 7 76111908 76111908 + Missense_Mutation SNP G G A TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr7:76111908G>A c.352G>A c.(352-354)Gat>Aat p.D118N COADREAD 7 76111908 76111908 + Missense_Mutation SNP G G A TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr7:76111908G>A c.352G>A c.(352-354)Gat>Aat p.D118N COADREAD 7 76111908 76111908 + Missense_Mutation SNP G G A TCGA-EI-6506-01A-11D-1733-10 TCGA-EI-6506-10A-01D-1733-10 g.chr7:76111908G>A c.352G>A c.(352-354)Gat>Aat p.D118N COADREAD 7 76111909 76111909 + Missense_Mutation SNP A A G TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr7:76111909A>G c.353A>G c.(352-354)gAt>gGt p.D118G COADREAD 7 76112076 76112076 + Missense_Mutation SNP C C T TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr7:76112076C>T c.520C>T c.(520-522)Cgc>Tgc p.R174C COADREAD 7 76112227 76112227 + Missense_Mutation SNP A A G TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr7:76112227A>G c.671A>G c.(670-672)tAc>tGc p.Y224C COADREAD 7 76129798 76129798 + Frame_Shift_Del DEL A A - TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr7:76129798delA c.1191delA c.(1189-1191)atafs p.I397fs COADREAD 7 76134774 76134774 + Silent SNP C C T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr7:76134774C>T c.1725C>T c.(1723-1725)acC>acT p.T575T COADREAD 7 76134787 76134787 + Missense_Mutation SNP G G A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr7:76134787G>A c.1738G>A c.(1738-1740)Gag>Aag p.E580K DLBC 7 76109877 76109877 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr7:76109877G>A c.51G>A c.(49-51)gcG>gcA p.A17A DLBC 7 76112299 76112299 + Missense_Mutation SNP A A G TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr7:76112299A>G c.743A>G c.(742-744)aAc>aGc p.N248S DLBC 7 76132805 76132805 + Silent SNP C C G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr7:76132805C>G c.1452C>G c.(1450-1452)ccC>ccG p.P484P DLBC 7 76132841 76132841 + Silent SNP G G A TCGA-FA-8693-01A-11D-2397-10 TCGA-FA-8693-10A-01D-2397-10 g.chr7:76132841G>A c.1488G>A c.(1486-1488)tcG>tcA p.S496S ESCA 7 76110027 76110027 + Silent SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 g.chr7:76110027G>A c.201G>A c.(199-201)caG>caA p.Q67Q ESCA 7 76111982 76111982 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 g.chr7:76111982C>T c.426C>T c.(424-426)ctC>ctT p.L142L ESCA 7 76112341 76112342 + In_Frame_Ins INS - - CAC TCGA-L5-A4ON-01A-11D-A27G-09 TCGA-L5-A4ON-11A-21D-A27G-09 g.chr7:76112341_76112342insCAC c.785_786insCAC c.(784-789)aacacc>aaCACcacc p.264_265insT ESCA 7 76129758 76129758 + Splice_Site SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 g.chr7:76129758G>A c.1151G>A c.(1150-1152)gGa>gAa p.G384E ESCA 7 76129758 76129758 + Splice_Site SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 g.chr7:76129758G>A c.1151G>A c.(1150-1152)gGa>gAa p.G384E ESCA 7 76131626 76131626 + Silent SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr7:76131626C>T c.1242C>T c.(1240-1242)atC>atT p.I414I ESCA 7 76131710 76131710 + Silent SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 g.chr7:76131710C>A c.1326C>A c.(1324-1326)ctC>ctA p.L442L GBM 7 76109950 76109950 + Missense_Mutation SNP A A G TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 g.chr7:76109950A>G c.124A>G c.(124-126)Atc>Gtc p.I42V GBM 7 76112453 76112453 + Silent SNP C C T TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 g.chr7:76112453C>T c.897C>T c.(895-897)tcC>tcT p.S299S GBMLGG 7 76109950 76109950 + Missense_Mutation SNP A A G TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 g.chr7:76109950A>G c.124A>G c.(124-126)Atc>Gtc p.I42V GBMLGG 7 76112453 76112453 + Silent SNP C C T TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 g.chr7:76112453C>T c.897C>T c.(895-897)tcC>tcT p.S299S HNSC 7 76109854 76109854 + Missense_Mutation SNP G G T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 g.chr7:76109854G>T c.28G>T c.(28-30)Gtg>Ttg p.V10L HNSC 7 76111982 76111982 + Silent SNP C C T TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 g.chr7:76111982C>T c.426C>T c.(424-426)ctC>ctT p.L142L HNSC 7 76112069 76112069 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr7:76112069C>T c.513C>T c.(511-513)agC>agT p.S171S KICH 7 76112348 76112348 + Silent SNP C C G TCGA-KO-8408-01A-11D-2310-10 TCGA-KO-8408-11A-01D-2311-10 g.chr7:76112348C>G c.792C>G c.(790-792)acC>acG p.T264T KIPAN 7 76112348 76112348 + Silent SNP C C G TCGA-KO-8408-01A-11D-2310-10 TCGA-KO-8408-11A-01D-2311-10 g.chr7:76112348C>G c.792C>G c.(790-792)acC>acG p.T264T LIHC 7 76112438 76112438 + Silent SNP A A T TCGA-CC-A7IH-01A-11D-A33K-10 TCGA-CC-A7IH-10A-01D-A33K-10 g.chr7:76112438A>T c.882A>T c.(880-882)ccA>ccT p.P294P LIHC 7 76131756 76131756 + Missense_Mutation SNP T T C TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr7:76131756T>C c.1372T>C c.(1372-1374)Tac>Cac p.Y458H LIHC 7 76132782 76132782 + Nonsense_Mutation SNP G G T TCGA-UB-AA0V-01A-11D-A382-10 TCGA-UB-AA0V-10A-01D-A385-10 g.chr7:76132782G>T c.1429G>T c.(1429-1431)Gga>Tga p.G477* LUAD 7 76109892 76109892 + Missense_Mutation SNP G G C TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr7:76109892G>C c.66G>C c.(64-66)tgG>tgC p.W22C LUAD 7 76109901 76109901 + Missense_Mutation SNP G G T TCGA-MP-A4SY-01A-21D-A24P-08 TCGA-MP-A4SY-10A-01D-A24P-08 g.chr7:76109901G>T c.75G>T c.(73-75)caG>caT p.Q25H LUAD 7 76109955 76109955 + Missense_Mutation SNP G G T TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr7:76109955G>T c.129G>T c.(127-129)gaG>gaT p.E43D LUAD 7 76111844 76111844 + Silent SNP G G A TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 g.chr7:76111844G>A c.288G>A c.(286-288)cgG>cgA p.R96R LUAD 7 76111922 76111922 + Silent SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr7:76111922T>C c.366T>C c.(364-366)acT>acC p.T122T LUAD 7 76111985 76111985 + Silent SNP G G T TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr7:76111985G>T c.429G>T c.(427-429)gtG>gtT p.V143V LUAD 7 76112138 76112138 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr7:76112138C>T c.582C>T c.(580-582)gtC>gtT p.V194V LUAD 7 76112259 76112259 + Missense_Mutation SNP G G T TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 g.chr7:76112259G>T c.703G>T c.(703-705)Gct>Tct p.A235S LUAD 7 76112263 76112263 + Missense_Mutation SNP C C T TCGA-86-8056-01A-11D-2238-08 TCGA-86-8056-10A-01D-2238-08 g.chr7:76112263C>T c.707C>T c.(706-708)tCt>tTt p.S236F LUAD 7 76112318 76112318 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 g.chr7:76112318G>T c.762G>T c.(760-762)ggG>ggT p.G254G LUAD 7 76112337 76112337 + Silent SNP C C T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 g.chr7:76112337C>T c.781C>T c.(781-783)Ctg>Ttg p.L261L LUAD 7 76112351 76112351 + Silent SNP C C T TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr7:76112351C>T c.795C>T c.(793-795)aaC>aaT p.N265N LUAD 7 76112402 76112402 + Silent SNP C C G TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr7:76112402C>G c.846C>G c.(844-846)tcC>tcG p.S282S LUAD 7 76121568 76121568 + Missense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 g.chr7:76121568C>A c.1007C>A c.(1006-1008)gCa>gAa p.A336E LUSC 7 76111997 76111997 + Silent SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr7:76111997C>T c.441C>T c.(439-441)ccC>ccT p.P147P LUSC 7 76112361 76112361 + Missense_Mutation SNP G G C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chr7:76112361G>C c.805G>C c.(805-807)Gca>Cca p.A269P LUSC 7 76126661 76126661 + Silent SNP G G T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr7:76126661G>T c.1017G>T c.(1015-1017)acG>acT p.T339T LUSC 7 76132846 76132847 + Missense_Mutation DNP CC CC TA TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr7:76132846_76132847CC>TA c.1493_1494CC>TA c.(1492-1494)cCC>cTA p.P498L LUSC 7 76134751 76134751 + Missense_Mutation SNP A A G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 g.chr7:76134751A>G c.1702A>G c.(1702-1704)Agc>Ggc p.S568G OV 7 76111908 76111908 + Missense_Mutation SNP G G T TCGA-04-1542-01A-01W-0553-09 TCGA-04-1542-10A-01W-0553-09 g.chr7:76111908G>T c.352G>T c.(352-354)Gat>Tat p.D118Y OV 7 76134842 76134842 + Missense_Mutation SNP A A T TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 g.chr7:76134842A>T c.1793A>T c.(1792-1794)gAc>gTc p.D598V PAAD 7 76111993 76111993 + Missense_Mutation SNP C C T TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 g.chr7:76111993C>T c.437C>T c.(436-438)gCc>gTc p.A146V PAAD 7 76112048 76112048 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:76112048G>T c.492G>T c.(490-492)aaG>aaT p.K164N PAAD 7 76112193 76112193 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 g.chr7:76112193C>T c.637C>T c.(637-639)Cgc>Tgc p.R213C PAAD 7 76131738 76131738 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:76131738C>A c.1354C>A c.(1354-1356)Ctg>Atg p.L452M PAAD 7 76131750 76131750 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:76131750G>A c.1366G>A c.(1366-1368)Gcc>Acc p.A456T PRAD 7 76111999 76112000 + Frame_Shift_Ins INS - - G TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr7:76111999_76112000insG c.443_444insG c.(442-447)ctggggfs p.LG148fs PRAD 7 76112081 76112081 + Silent SNP A A G TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 g.chr7:76112081A>G c.525A>G c.(523-525)caA>caG p.Q175Q PRAD 7 76134727 76134727 + Missense_Mutation SNP C C T TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 g.chr7:76134727C>T c.1678C>T c.(1678-1680)Ctc>Ttc p.L560F READ 7 76111908 76111908 + Missense_Mutation SNP G G A TCGA-EI-6506-01A-11D-1733-10 TCGA-EI-6506-10A-01D-1733-10 g.chr7:76111908G>A c.352G>A c.(352-354)Gat>Aat p.D118N READ 7 76129798 76129798 + Frame_Shift_Del DEL A A - TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr7:76129798delA c.1191delA c.(1189-1191)atafs p.I397fs SARC 7 76109854 76109854 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr7:76109854G>A c.28G>A c.(28-30)Gtg>Atg p.V10M SARC 7 76110035 76110035 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr7:76110035C>T c.209C>T c.(208-210)cCc>cTc p.P70L SARC 7 76112410 76112410 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr7:76112410C>T c.854C>T c.(853-855)tCc>tTc p.S285F SKCM 7 76109952 76109952 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr7:76109952C>T c.126C>T c.(124-126)atC>atT p.I42I SKCM 7 76111856 76111856 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr7:76111856C>T c.300C>T c.(298-300)ttC>ttT p.F100F SKCM 7 76111857 76111857 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr7:76111857C>T c.301C>T c.(301-303)Ccc>Tcc p.P101S SKCM 7 76111877 76111877 + Silent SNP C C T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chr7:76111877C>T c.321C>T c.(319-321)ggC>ggT p.G107G SKCM 7 76112063 76112063 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr7:76112063C>T c.507C>T c.(505-507)tgC>tgT p.C169C SKCM 7 76112102 76112102 + Silent SNP G G T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr7:76112102G>T c.546G>T c.(544-546)gtG>gtT p.V182V SKCM 7 76112398 76112398 + Missense_Mutation SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 g.chr7:76112398G>A c.842G>A c.(841-843)cGc>cAc p.R281H SKCM 7 76126703 76126703 + Silent SNP C C T TCGA-D3-A1Q5-06A-11D-A196-08 TCGA-D3-A1Q5-10A-01D-A198-08 g.chr7:76126703C>T c.1059C>T c.(1057-1059)agC>agT p.S353S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 7 76111937 76111937 single base substitution C T downstream_gene_variant ALL-US 7 76111937 76111937 single base substitution C T synonymous_variant S127S 381C>T ALL-US 7 76111937 76111937 single base substitution C T synonymous_variant S36S 108C>T BLCA-CN 7 76112348 76112348 single base substitution C G downstream_gene_variant BLCA-CN 7 76112348 76112348 single base substitution C G synonymous_variant T173T 519C>G BLCA-CN 7 76112348 76112348 single base substitution C G synonymous_variant T264T 792C>G BLCA-CN 7 76121509 76121509 single base substitution C T exon_variant BLCA-CN 7 76121509 76121509 single base substitution C T synonymous_variant S225S 675C>T BLCA-CN 7 76121509 76121509 single base substitution C T synonymous_variant S316S 948C>T BLCA-CN 7 76134888 76134888 single base substitution G A downstream_gene_variant BLCA-CN 7 76134888 76134888 single base substitution G A exon_variant BLCA-CN 7 76134888 76134888 single base substitution G A synonymous_variant G522G 1566G>A BLCA-CN 7 76134888 76134888 single base substitution G A synonymous_variant G566G 1698G>A BLCA-CN 7 76134888 76134888 single base substitution G A synonymous_variant G613G 1839G>A BLCA-US 7 76112191 76112191 single base substitution G T downstream_gene_variant BLCA-US 7 76112191 76112191 single base substitution G T missense_variant G121V 362G>T BLCA-US 7 76112191 76112191 single base substitution G T missense_variant G212V 635G>T BLCA-US 7 76126675 76126675 single base substitution C T intron_variant BLCA-US 7 76126675 76126675 single base substitution C T missense_variant S253L 758C>T BLCA-US 7 76126675 76126675 single base substitution C T missense_variant S344L 1031C>T BLCA-US 7 76126675 76126675 single base substitution C T upstream_gene_variant BRCA-EU 7 76086251 76086251 single base substitution C T upstream_gene_variant BRCA-EU 7 76088918 76088918 single base substitution T C upstream_gene_variant BRCA-EU 7 76093066 76093066 single base substitution C G intron_variant BRCA-EU 7 76093573 76093573 single base substitution G A intron_variant BRCA-EU 7 76095825 76095825 single base substitution C T intron_variant BRCA-EU 7 76096018 76096018 single base substitution C A intron_variant BRCA-EU 7 76097449 76097451 deletion of <=200bp CAA - intron_variant BRCA-EU 7 76097449 76097451 deletion of <=200bp CAA - upstream_gene_variant BRCA-EU 7 76098369 76098369 single base substitution A T intron_variant BRCA-EU 7 76098369 76098369 single base substitution A T upstream_gene_variant BRCA-EU 7 76098961 76098961 single base substitution C T intron_variant BRCA-EU 7 76098961 76098961 single base substitution C T upstream_gene_variant BRCA-EU 7 76101401 76101401 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 7 76101401 76101401 single base substitution C T intron_variant BRCA-EU 7 76101887 76101887 single base substitution G A intron_variant BRCA-EU 7 76102605 76102605 single base substitution C G intron_variant BRCA-EU 7 76102605 76102605 single base substitution C G upstream_gene_variant BRCA-EU 7 76104062 76104062 single base substitution G A intron_variant BRCA-EU 7 76104062 76104062 single base substitution G A upstream_gene_variant BRCA-EU 7 76104451 76104451 single base substitution G C intron_variant BRCA-EU 7 76104451 76104451 single base substitution G C upstream_gene_variant BRCA-EU 7 76106073 76106073 single base substitution A G intron_variant BRCA-EU 7 76106073 76106073 single base substitution A G upstream_gene_variant BRCA-EU 7 76106293 76106293 single base substitution C T 5_prime_UTR_variant BRCA-EU 7 76106293 76106293 single base substitution C T exon_variant BRCA-EU 7 76106293 76106293 single base substitution C T intron_variant BRCA-EU 7 76106293 76106293 single base substitution C T upstream_gene_variant BRCA-EU 7 76106914 76106914 single base substitution G A intron_variant BRCA-EU 7 76106914 76106914 single base substitution G A upstream_gene_variant BRCA-EU 7 76107308 76107308 single base substitution C T intron_variant BRCA-EU 7 76107308 76107308 single base substitution C T upstream_gene_variant BRCA-EU 7 76107379 76107379 single base substitution C T intron_variant BRCA-EU 7 76107379 76107379 single base substitution C T upstream_gene_variant BRCA-EU 7 76109311 76109311 single base substitution C T intron_variant BRCA-EU 7 76109311 76109311 single base substitution C T upstream_gene_variant BRCA-EU 7 76111090 76111090 single base substitution G A downstream_gene_variant BRCA-EU 7 76111090 76111090 single base substitution G A intron_variant BRCA-EU 7 76111262 76111262 single base substitution G C downstream_gene_variant BRCA-EU 7 76111262 76111262 single base substitution G C intron_variant BRCA-EU 7 76111304 76111304 single base substitution C T downstream_gene_variant BRCA-EU 7 76111304 76111304 single base substitution C T intron_variant BRCA-EU 7 76111905 76111905 single base substitution G A downstream_gene_variant BRCA-EU 7 76111905 76111905 single base substitution G A exon_variant BRCA-EU 7 76111905 76111905 single base substitution G A missense_variant D117N 349G>A BRCA-EU 7 76111905 76111905 single base substitution G A missense_variant D26N 76G>A BRCA-EU 7 76112329 76112329 single base substitution C T downstream_gene_variant BRCA-EU 7 76112329 76112329 single base substitution C T missense_variant A167V 500C>T BRCA-EU 7 76112329 76112329 single base substitution C T missense_variant A258V 773C>T BRCA-EU 7 76112331 76112331 single base substitution C T downstream_gene_variant BRCA-EU 7 76112331 76112331 single base substitution C T missense_variant P168S 502C>T BRCA-EU 7 76112331 76112331 single base substitution C T missense_variant P259S 775C>T BRCA-EU 7 76112972 76112972 single base substitution G T downstream_gene_variant BRCA-EU 7 76112972 76112972 single base substitution G T intron_variant BRCA-EU 7 76116581 76116581 single base substitution C A downstream_gene_variant BRCA-EU 7 76116581 76116581 single base substitution C A intron_variant BRCA-EU 7 76116581 76116581 single base substitution C A upstream_gene_variant BRCA-EU 7 76119476 76119476 single base substitution C G intron_variant BRCA-EU 7 76119476 76119476 single base substitution C G upstream_gene_variant BRCA-EU 7 76122972 76122972 single base substitution G A intron_variant BRCA-EU 7 76123066 76123066 single base substitution G A intron_variant BRCA-EU 7 76123594 76123594 single base substitution G C intron_variant BRCA-EU 7 76124286 76124286 single base substitution A C intron_variant BRCA-EU 7 76124286 76124286 single base substitution A C upstream_gene_variant BRCA-EU 7 76126704 76126704 single base substitution C T intron_variant BRCA-EU 7 76126704 76126704 single base substitution C T missense_variant R263C 787C>T BRCA-EU 7 76126704 76126704 single base substitution C T missense_variant R354C 1060C>T BRCA-EU 7 76126704 76126704 single base substitution C T upstream_gene_variant BRCA-EU 7 76129009 76129009 single base substitution C T intron_variant BRCA-EU 7 76129009 76129009 single base substitution C T upstream_gene_variant BRCA-EU 7 76132059 76132059 single base substitution C T downstream_gene_variant BRCA-EU 7 76132059 76132059 single base substitution C T intron_variant BRCA-EU 7 76132059 76132059 single base substitution C T upstream_gene_variant BRCA-EU 7 76132279 76132279 single base substitution T C 3_prime_UTR_variant BRCA-EU 7 76132279 76132279 single base substitution T C downstream_gene_variant BRCA-EU 7 76132279 76132279 single base substitution T C intron_variant BRCA-EU 7 76132279 76132279 single base substitution T C upstream_gene_variant BRCA-EU 7 76134090 76134090 single base substitution A T downstream_gene_variant BRCA-EU 7 76134090 76134090 single base substitution A T intron_variant BRCA-EU 7 76134732 76134732 single base substitution C G downstream_gene_variant BRCA-EU 7 76134732 76134732 single base substitution C G exon_variant BRCA-EU 7 76134732 76134732 single base substitution C G missense_variant I470M 1410C>G BRCA-EU 7 76134732 76134732 single base substitution C G missense_variant I514M 1542C>G BRCA-EU 7 76134732 76134732 single base substitution C G missense_variant I561M 1683C>G BRCA-EU 7 76134738 76134738 single base substitution A T downstream_gene_variant BRCA-EU 7 76134738 76134738 single base substitution A T exon_variant BRCA-EU 7 76134738 76134738 single base substitution A T synonymous_variant T472T 1416A>T BRCA-EU 7 76134738 76134738 single base substitution A T synonymous_variant T516T 1548A>T BRCA-EU 7 76134738 76134738 single base substitution A T synonymous_variant T563T 1689A>T BRCA-EU 7 76135191 76135191 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 76135191 76135191 single base substitution C T downstream_gene_variant BRCA-EU 7 76135191 76135191 single base substitution C T exon_variant BRCA-EU 7 76139115 76139115 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 76139960 76139960 single base substitution G A downstream_gene_variant BRCA-EU 7 76140010 76140010 single base substitution T C downstream_gene_variant BRCA-EU 7 76140148 76140148 single base substitution G A downstream_gene_variant BRCA-FR 7 76089923 76089923 single base substitution C T upstream_gene_variant BRCA-FR 7 76090246 76090246 single base substitution C T upstream_gene_variant BRCA-FR 7 76092718 76092718 single base substitution C G intron_variant BRCA-FR 7 76093066 76093066 single base substitution C G intron_variant BRCA-FR 7 76107511 76107511 single base substitution G A 5_prime_UTR_variant BRCA-FR 7 76107511 76107511 single base substitution G A intron_variant BRCA-FR 7 76107511 76107511 single base substitution G A upstream_gene_variant BRCA-FR 7 76111304 76111304 single base substitution C T downstream_gene_variant BRCA-FR 7 76111304 76111304 single base substitution C T intron_variant BRCA-FR 7 76112509 76112509 single base substitution G A downstream_gene_variant BRCA-FR 7 76112509 76112509 single base substitution G A intron_variant BRCA-FR 7 76123820 76123820 single base substitution C T intron_variant BRCA-FR 7 76132676 76132676 single base substitution C T downstream_gene_variant BRCA-FR 7 76132676 76132676 single base substitution C T intron_variant BRCA-FR 7 76132676 76132676 single base substitution C T upstream_gene_variant BRCA-FR 7 76133947 76133947 single base substitution G C downstream_gene_variant BRCA-FR 7 76133947 76133947 single base substitution G C intron_variant BRCA-FR 7 76139960 76139960 single base substitution G A downstream_gene_variant BRCA-FR 7 76140148 76140148 single base substitution G A downstream_gene_variant BRCA-FR 7 76140182 76140182 single base substitution C T downstream_gene_variant BRCA-UK 7 76107266 76107266 single base substitution C G intron_variant BRCA-UK 7 76107266 76107266 single base substitution C G upstream_gene_variant BRCA-UK 7 76111676 76111676 single base substitution C G downstream_gene_variant BRCA-UK 7 76111676 76111676 single base substitution C G intron_variant BRCA-UK 7 76138484 76138484 single base substitution C T downstream_gene_variant BRCA-US 7 76111950 76111950 single base substitution C G downstream_gene_variant BRCA-US 7 76111950 76111950 single base substitution C G missense_variant L132V 394C>G BRCA-US 7 76111950 76111950 single base substitution C G missense_variant L41V 121C>G BRCA-US 7 76112249 76112249 deletion of <=200bp A - downstream_gene_variant BRCA-US 7 76112249 76112249 deletion of <=200bp A - frameshift_variant P140 BRCA-US 7 76112249 76112249 deletion of <=200bp A - frameshift_variant P231 BRCA-US 7 76121509 76121509 single base substitution C T exon_variant BRCA-US 7 76121509 76121509 single base substitution C T synonymous_variant S225S 675C>T BRCA-US 7 76121509 76121509 single base substitution C T synonymous_variant S316S 948C>T BRCA-US 7 76126704 76126704 single base substitution C T intron_variant BRCA-US 7 76126704 76126704 single base substitution C T missense_variant R263C 787C>T BRCA-US 7 76126704 76126704 single base substitution C T missense_variant R354C 1060C>T BRCA-US 7 76126704 76126704 single base substitution C T upstream_gene_variant BRCA-US 7 76126735 76126735 single base substitution C T intron_variant BRCA-US 7 76126735 76126735 single base substitution C T missense_variant S273F 818C>T BRCA-US 7 76126735 76126735 single base substitution C T missense_variant S364F 1091C>T BRCA-US 7 76126735 76126735 single base substitution C T upstream_gene_variant BTCA-JP 7 76111993 76111993 deletion of <=200bp C - downstream_gene_variant BTCA-JP 7 76111993 76111993 deletion of <=200bp C - frameshift_variant A146 BTCA-JP 7 76111993 76111993 deletion of <=200bp C - frameshift_variant A55 BTCA-JP 7 76112259 76112259 single base substitution G A downstream_gene_variant BTCA-JP 7 76112259 76112259 single base substitution G A missense_variant A144T 430G>A BTCA-JP 7 76112259 76112259 single base substitution G A missense_variant A235T 703G>A BTCA-JP 7 76130717 76130717 single base substitution C T intron_variant BTCA-JP 7 76130717 76130717 single base substitution C T upstream_gene_variant BTCA-JP 7 76131564 76131564 single base substitution G A exon_variant BTCA-JP 7 76131564 76131564 single base substitution G A intron_variant BTCA-JP 7 76131564 76131564 single base substitution G A upstream_gene_variant BTCA-JP 7 76131776 76131776 single base substitution G A downstream_gene_variant BTCA-JP 7 76131776 76131776 single base substitution G A intron_variant BTCA-JP 7 76131776 76131776 single base substitution G A splice_region_variant BTCA-JP 7 76131776 76131776 single base substitution G A upstream_gene_variant BTCA-JP 7 76134909 76134909 single base substitution G A downstream_gene_variant BTCA-JP 7 76134909 76134909 single base substitution G A exon_variant BTCA-JP 7 76134909 76134909 single base substitution G A synonymous_variant E529E 1587G>A BTCA-JP 7 76134909 76134909 single base substitution G A synonymous_variant E573E 1719G>A BTCA-JP 7 76134909 76134909 single base substitution G A synonymous_variant E620E 1860G>A CESC-US 7 76112111 76112111 single base substitution C T downstream_gene_variant CESC-US 7 76112111 76112111 single base substitution C T synonymous_variant I185I 555C>T CESC-US 7 76112111 76112111 single base substitution C T synonymous_variant I94I 282C>T CLLE-ES 7 76112287 76112287 single base substitution T C downstream_gene_variant CLLE-ES 7 76112287 76112287 single base substitution T C missense_variant F153S 458T>C CLLE-ES 7 76112287 76112287 single base substitution T C missense_variant F244S 731T>C CLLE-ES 7 76129045 76129045 single base substitution G A intron_variant CLLE-ES 7 76129045 76129045 single base substitution G A upstream_gene_variant COAD-US 7 76111938 76111938 single base substitution G A downstream_gene_variant COAD-US 7 76111938 76111938 single base substitution G A missense_variant V128I 382G>A COAD-US 7 76111938 76111938 single base substitution G A missense_variant V37I 109G>A COAD-US 7 76112060 76112060 single base substitution C T downstream_gene_variant COAD-US 7 76112060 76112060 single base substitution C T synonymous_variant F168F 504C>T COAD-US 7 76112060 76112060 single base substitution C T synonymous_variant F77F 231C>T COAD-US 7 76112076 76112076 single base substitution C T downstream_gene_variant COAD-US 7 76112076 76112076 single base substitution C T missense_variant R174C 520C>T COAD-US 7 76112076 76112076 single base substitution C T missense_variant R83C 247C>T COAD-US 7 76134729 76134729 single base substitution C T downstream_gene_variant COAD-US 7 76134729 76134729 single base substitution C T exon_variant COAD-US 7 76134729 76134729 single base substitution C T synonymous_variant L469L 1407C>T COAD-US 7 76134729 76134729 single base substitution C T synonymous_variant L513L 1539C>T COAD-US 7 76134729 76134729 single base substitution C T synonymous_variant L560L 1680C>T COAD-US 7 76134774 76134774 single base substitution C T downstream_gene_variant COAD-US 7 76134774 76134774 single base substitution C T exon_variant COAD-US 7 76134774 76134774 single base substitution C T synonymous_variant T484T 1452C>T COAD-US 7 76134774 76134774 single base substitution C T synonymous_variant T528T 1584C>T COAD-US 7 76134774 76134774 single base substitution C T synonymous_variant T575T 1725C>T COAD-US 7 76140017 76140017 single base substitution C T downstream_gene_variant COCA-CN 7 76087017 76087017 single base substitution T C upstream_gene_variant COCA-CN 7 76090930 76090930 single base substitution G A upstream_gene_variant COCA-CN 7 76091322 76091322 single base substitution G T intron_variant COCA-CN 7 76091322 76091322 single base substitution G T upstream_gene_variant COCA-CN 7 76092509 76092509 single base substitution A G intron_variant COCA-CN 7 76098368 76098368 single base substitution T C intron_variant COCA-CN 7 76098368 76098368 single base substitution T C upstream_gene_variant COCA-CN 7 76098450 76098450 single base substitution T C intron_variant COCA-CN 7 76098450 76098450 single base substitution T C upstream_gene_variant COCA-CN 7 76102220 76102220 single base substitution A G intron_variant COCA-CN 7 76104500 76104500 single base substitution T A intron_variant COCA-CN 7 76104500 76104500 single base substitution T A upstream_gene_variant COCA-CN 7 76107548 76107548 single base substitution A G intron_variant COCA-CN 7 76107548 76107548 single base substitution A G upstream_gene_variant COCA-CN 7 76112115 76112115 single base substitution G T downstream_gene_variant COCA-CN 7 76112115 76112115 single base substitution G T missense_variant A187S 559G>T COCA-CN 7 76112115 76112115 single base substitution G T missense_variant A96S 286G>T COCA-CN 7 76112123 76112123 single base substitution G A downstream_gene_variant COCA-CN 7 76112123 76112123 single base substitution G A synonymous_variant P189P 567G>A COCA-CN 7 76112123 76112123 single base substitution G A synonymous_variant P98P 294G>A COCA-CN 7 76112249 76112249 single base substitution A C downstream_gene_variant COCA-CN 7 76112249 76112249 single base substitution A C synonymous_variant P140P 420A>C COCA-CN 7 76112249 76112249 single base substitution A C synonymous_variant P231P 693A>C COCA-CN 7 76112294 76112294 single base substitution G A downstream_gene_variant COCA-CN 7 76112294 76112294 single base substitution G A synonymous_variant P155P 465G>A COCA-CN 7 76112294 76112294 single base substitution G A synonymous_variant P246P 738G>A COCA-CN 7 76112509 76112509 single base substitution G A downstream_gene_variant COCA-CN 7 76112509 76112509 single base substitution G A intron_variant COCA-CN 7 76112663 76112663 single base substitution G A downstream_gene_variant COCA-CN 7 76112663 76112663 single base substitution G A intron_variant COCA-CN 7 76112727 76112727 single base substitution G A downstream_gene_variant COCA-CN 7 76112727 76112727 single base substitution G A intron_variant COCA-CN 7 76116200 76116200 single base substitution G T downstream_gene_variant COCA-CN 7 76116200 76116200 single base substitution G T intron_variant COCA-CN 7 76116201 76116201 single base substitution C T downstream_gene_variant COCA-CN 7 76116201 76116201 single base substitution C T intron_variant COCA-CN 7 76121509 76121509 single base substitution C T exon_variant COCA-CN 7 76121509 76121509 single base substitution C T synonymous_variant S225S 675C>T COCA-CN 7 76121509 76121509 single base substitution C T synonymous_variant S316S 948C>T COCA-CN 7 76125159 76125159 single base substitution T C intron_variant COCA-CN 7 76125159 76125159 single base substitution T C upstream_gene_variant COCA-CN 7 76126119 76126119 single base substitution A T intron_variant COCA-CN 7 76126119 76126119 single base substitution A T upstream_gene_variant COCA-CN 7 76126737 76126737 single base substitution C T intron_variant COCA-CN 7 76126737 76126737 single base substitution C T missense_variant R274C 820C>T COCA-CN 7 76126737 76126737 single base substitution C T missense_variant R365C 1093C>T COCA-CN 7 76126737 76126737 single base substitution C T upstream_gene_variant COCA-CN 7 76127854 76127854 single base substitution C T intron_variant COCA-CN 7 76127854 76127854 single base substitution C T upstream_gene_variant COCA-CN 7 76129302 76129302 single base substitution C G exon_variant COCA-CN 7 76129302 76129302 single base substitution C G intron_variant COCA-CN 7 76129302 76129302 single base substitution C G upstream_gene_variant COCA-CN 7 76132365 76132365 single base substitution G A downstream_gene_variant COCA-CN 7 76132365 76132365 single base substitution G A intron_variant COCA-CN 7 76132365 76132365 single base substitution G A upstream_gene_variant COCA-CN 7 76132397 76132397 single base substitution A G downstream_gene_variant COCA-CN 7 76132397 76132397 single base substitution A G intron_variant COCA-CN 7 76132397 76132397 single base substitution A G upstream_gene_variant COCA-CN 7 76132411 76132411 single base substitution G A downstream_gene_variant COCA-CN 7 76132411 76132411 single base substitution G A intron_variant COCA-CN 7 76132411 76132411 single base substitution G A upstream_gene_variant COCA-CN 7 76133409 76133409 single base substitution G T downstream_gene_variant COCA-CN 7 76133409 76133409 single base substitution G T intron_variant COCA-CN 7 76134864 76134864 single base substitution G T downstream_gene_variant COCA-CN 7 76134864 76134864 single base substitution G T exon_variant COCA-CN 7 76134864 76134864 single base substitution G T synonymous_variant V514V 1542G>T COCA-CN 7 76134864 76134864 single base substitution G T synonymous_variant V558V 1674G>T COCA-CN 7 76134864 76134864 single base substitution G T synonymous_variant V605V 1815G>T COCA-CN 7 76140080 76140080 single base substitution G A downstream_gene_variant ESAD-UK 7 76102387 76102387 single base substitution A G intron_variant ESAD-UK 7 76111905 76111905 single base substitution G C downstream_gene_variant ESAD-UK 7 76111905 76111905 single base substitution G C exon_variant ESAD-UK 7 76111905 76111905 single base substitution G C missense_variant D117H 349G>C ESAD-UK 7 76111905 76111905 single base substitution G C missense_variant D26H 76G>C ESAD-UK 7 76112194 76112194 single base substitution G A downstream_gene_variant ESAD-UK 7 76112194 76112194 single base substitution G A missense_variant R122H 365G>A ESAD-UK 7 76112194 76112194 single base substitution G A missense_variant R213H 638G>A ESAD-UK 7 76134583 76134583 single base substitution T C downstream_gene_variant ESAD-UK 7 76134583 76134583 single base substitution T C intron_variant ESAD-UK 7 76136061 76136061 single base substitution C T downstream_gene_variant ESAD-UK 7 76139640 76139640 single base substitution G A downstream_gene_variant ESAD-UK 7 76139868 76139880 deletion of <=200bp CAGCCTGATTAAC - downstream_gene_variant ESCA-CN 7 76093686 76093686 single base substitution G C intron_variant ESCA-CN 7 76111907 76111907 single base substitution C T downstream_gene_variant ESCA-CN 7 76111907 76111907 single base substitution C T exon_variant ESCA-CN 7 76111907 76111907 single base substitution C T synonymous_variant D117D 351C>T ESCA-CN 7 76111907 76111907 single base substitution C T synonymous_variant D26D 78C>T ESCA-CN 7 76112183 76112183 single base substitution C T downstream_gene_variant ESCA-CN 7 76112183 76112183 single base substitution C T synonymous_variant P118P 354C>T ESCA-CN 7 76112183 76112183 single base substitution C T synonymous_variant P209P 627C>T GBM-US 7 76109950 76109950 single base substitution A G downstream_gene_variant GBM-US 7 76109950 76109950 single base substitution A G exon_variant GBM-US 7 76109950 76109950 single base substitution A G intron_variant GBM-US 7 76109950 76109950 single base substitution A G missense_variant I42V 124A>G GBM-US 7 76112453 76112453 single base substitution C T downstream_gene_variant GBM-US 7 76112453 76112453 single base substitution C T synonymous_variant S208S 624C>T GBM-US 7 76112453 76112453 single base substitution C T synonymous_variant S299S 897C>T KIRC-US 7 76112183 76112183 single base substitution C T downstream_gene_variant KIRC-US 7 76112183 76112183 single base substitution C T synonymous_variant P118P 354C>T KIRC-US 7 76112183 76112183 single base substitution C T synonymous_variant P209P 627C>T KIRC-US 7 76140064 76140064 single base substitution G T downstream_gene_variant LAML-KR 7 76086212 76086212 single base substitution A G upstream_gene_variant LAML-KR 7 76086216 76086216 single base substitution G A upstream_gene_variant LAML-KR 7 76086252 76086252 single base substitution G A upstream_gene_variant LAML-KR 7 76086922 76086922 single base substitution C A upstream_gene_variant LAML-KR 7 76091092 76091092 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LAML-KR 7 76091092 76091092 single base substitution C T exon_variant LAML-KR 7 76091092 76091092 single base substitution C T upstream_gene_variant LAML-KR 7 76093803 76093803 single base substitution G T intron_variant LAML-KR 7 76099978 76099978 single base substitution T G intron_variant LAML-KR 7 76099978 76099978 single base substitution T G upstream_gene_variant LAML-KR 7 76100195 76100195 single base substitution G C intron_variant LAML-KR 7 76100195 76100195 single base substitution G C upstream_gene_variant LAML-KR 7 76109226 76109226 single base substitution C T intron_variant LAML-KR 7 76109226 76109226 single base substitution C T upstream_gene_variant LAML-KR 7 76111994 76111994 single base substitution C G downstream_gene_variant LAML-KR 7 76111994 76111994 single base substitution C G synonymous_variant A146A 438C>G LAML-KR 7 76111994 76111994 single base substitution C G synonymous_variant A55A 165C>G LAML-KR 7 76112183 76112183 single base substitution C T downstream_gene_variant LAML-KR 7 76112183 76112183 single base substitution C T synonymous_variant P118P 354C>T LAML-KR 7 76112183 76112183 single base substitution C T synonymous_variant P209P 627C>T LAML-KR 7 76112249 76112249 single base substitution A C downstream_gene_variant LAML-KR 7 76112249 76112249 single base substitution A C synonymous_variant P140P 420A>C LAML-KR 7 76112249 76112249 single base substitution A C synonymous_variant P231P 693A>C LAML-KR 7 76112518 76112518 single base substitution C T downstream_gene_variant LAML-KR 7 76112518 76112518 single base substitution C T intron_variant LAML-KR 7 76114196 76114196 single base substitution C T downstream_gene_variant LAML-KR 7 76114196 76114196 single base substitution C T intron_variant LAML-KR 7 76118743 76118743 single base substitution G A intron_variant LAML-KR 7 76118743 76118743 single base substitution G A upstream_gene_variant LAML-KR 7 76123177 76123177 single base substitution C G intron_variant LAML-KR 7 76126737 76126737 single base substitution C T intron_variant LAML-KR 7 76126737 76126737 single base substitution C T missense_variant R274C 820C>T LAML-KR 7 76126737 76126737 single base substitution C T missense_variant R365C 1093C>T LAML-KR 7 76126737 76126737 single base substitution C T upstream_gene_variant LAML-KR 7 76126841 76126841 single base substitution C T intron_variant LAML-KR 7 76126841 76126841 single base substitution C T upstream_gene_variant LAML-KR 7 76129930 76129930 single base substitution T G intron_variant LAML-KR 7 76129930 76129930 single base substitution T G upstream_gene_variant LAML-KR 7 76130717 76130717 single base substitution C T intron_variant LAML-KR 7 76130717 76130717 single base substitution C T upstream_gene_variant LAML-KR 7 76131597 76131597 single base substitution A G exon_variant LAML-KR 7 76131597 76131597 single base substitution A G intron_variant LAML-KR 7 76131597 76131597 single base substitution A G upstream_gene_variant LAML-KR 7 76131790 76131790 single base substitution A G downstream_gene_variant LAML-KR 7 76131790 76131790 single base substitution A G intron_variant LAML-KR 7 76131790 76131790 single base substitution A G upstream_gene_variant LAML-KR 7 76133638 76133638 single base substitution G A downstream_gene_variant LAML-KR 7 76133638 76133638 single base substitution G A intron_variant LAML-KR 7 76133863 76133863 single base substitution C T downstream_gene_variant LAML-KR 7 76133863 76133863 single base substitution C T intron_variant LICA-FR 7 76087374 76087374 single base substitution T G upstream_gene_variant LICA-FR 7 76090148 76090148 insertion of <=200bp - T upstream_gene_variant LICA-FR 7 76091322 76091322 single base substitution G T intron_variant LICA-FR 7 76091322 76091322 single base substitution G T upstream_gene_variant LICA-FR 7 76094967 76094967 single base substitution G A intron_variant LICA-FR 7 76096161 76096161 single base substitution T C intron_variant LICA-FR 7 76096281 76096281 single base substitution A G intron_variant LICA-FR 7 76096558 76096558 single base substitution T A intron_variant LICA-FR 7 76096558 76096558 single base substitution T A upstream_gene_variant LICA-FR 7 76098538 76098538 single base substitution A G intron_variant LICA-FR 7 76098538 76098538 single base substitution A G upstream_gene_variant LICA-FR 7 76098733 76098733 single base substitution G A intron_variant LICA-FR 7 76098733 76098733 single base substitution G A upstream_gene_variant LICA-FR 7 76100857 76100857 single base substitution T G intron_variant LICA-FR 7 76100857 76100857 single base substitution T G upstream_gene_variant LICA-FR 7 76110507 76110507 deletion of <=200bp T - downstream_gene_variant LICA-FR 7 76110507 76110507 deletion of <=200bp T - intron_variant LICA-FR 7 76111460 76111460 single base substitution C T downstream_gene_variant LICA-FR 7 76111460 76111460 single base substitution C T intron_variant LICA-FR 7 76112122 76112122 single base substitution C T downstream_gene_variant LICA-FR 7 76112122 76112122 single base substitution C T missense_variant P189L 566C>T LICA-FR 7 76112122 76112122 single base substitution C T missense_variant P98L 293C>T LICA-FR 7 76112518 76112518 single base substitution C T downstream_gene_variant LICA-FR 7 76112518 76112518 single base substitution C T intron_variant LICA-FR 7 76112624 76112624 single base substitution A G downstream_gene_variant LICA-FR 7 76112624 76112624 single base substitution A G intron_variant LICA-FR 7 76113799 76113799 single base substitution G C downstream_gene_variant LICA-FR 7 76113799 76113799 single base substitution G C intron_variant LICA-FR 7 76118474 76118474 single base substitution A G intron_variant LICA-FR 7 76118474 76118474 single base substitution A G upstream_gene_variant LICA-FR 7 76123854 76123854 single base substitution A G intron_variant LICA-FR 7 76124079 76124079 single base substitution A G intron_variant LICA-FR 7 76126841 76126841 single base substitution C T intron_variant LICA-FR 7 76126841 76126841 single base substitution C T upstream_gene_variant LICA-FR 7 76128145 76128145 single base substitution A G intron_variant LICA-FR 7 76128145 76128145 single base substitution A G upstream_gene_variant LICA-FR 7 76130450 76130450 single base substitution T G intron_variant LICA-FR 7 76130450 76130450 single base substitution T G upstream_gene_variant LICA-FR 7 76130995 76130995 single base substitution C A intron_variant LICA-FR 7 76130995 76130995 single base substitution C A upstream_gene_variant LICA-FR 7 76131062 76131062 single base substitution G T intron_variant LICA-FR 7 76131062 76131062 single base substitution G T upstream_gene_variant LICA-FR 7 76134090 76134090 single base substitution A T downstream_gene_variant LICA-FR 7 76134090 76134090 single base substitution A T intron_variant LICA-FR 7 76136801 76136801 single base substitution G A downstream_gene_variant LICA-FR 7 76136802 76136802 single base substitution C G downstream_gene_variant LIHC-US 7 76112438 76112438 single base substitution A T downstream_gene_variant LIHC-US 7 76112438 76112438 single base substitution A T synonymous_variant P203P 609A>T LIHC-US 7 76112438 76112438 single base substitution A T synonymous_variant P294P 882A>T LINC-JP 7 76094064 76094064 single base substitution G C intron_variant LINC-JP 7 76109683 76109683 single base substitution T C intron_variant LINC-JP 7 76109683 76109683 single base substitution T C upstream_gene_variant LINC-JP 7 76131795 76131795 single base substitution G A downstream_gene_variant LINC-JP 7 76131795 76131795 single base substitution G A intron_variant LINC-JP 7 76131795 76131795 single base substitution G A upstream_gene_variant LINC-JP 7 76134431 76134431 single base substitution G C downstream_gene_variant LINC-JP 7 76134431 76134431 single base substitution G C intron_variant LINC-JP 7 76136089 76136089 single base substitution A G downstream_gene_variant LIRI-JP 7 76092760 76092760 single base substitution A G intron_variant LIRI-JP 7 76092760 76092760 single base substitution A G splice_acceptor_variant LIRI-JP 7 76095668 76095668 single base substitution C T intron_variant LIRI-JP 7 76098742 76098742 single base substitution T C intron_variant LIRI-JP 7 76098742 76098742 single base substitution T C upstream_gene_variant LIRI-JP 7 76101333 76101333 single base substitution G A intron_variant LIRI-JP 7 76101333 76101333 single base substitution G A upstream_gene_variant LIRI-JP 7 76130588 76130588 single base substitution T C exon_variant LIRI-JP 7 76130588 76130588 single base substitution T C intron_variant LIRI-JP 7 76130588 76130588 single base substitution T C upstream_gene_variant LIRI-JP 7 76130966 76130966 single base substitution A C intron_variant LIRI-JP 7 76130966 76130966 single base substitution A C upstream_gene_variant LIRI-JP 7 76131062 76131062 single base substitution G T intron_variant LIRI-JP 7 76131062 76131062 single base substitution G T upstream_gene_variant LIRI-JP 7 76131156 76131156 single base substitution G A intron_variant LIRI-JP 7 76131156 76131156 single base substitution G A upstream_gene_variant LIRI-JP 7 76131328 76131328 single base substitution C G exon_variant LIRI-JP 7 76131328 76131328 single base substitution C G intron_variant LIRI-JP 7 76131328 76131328 single base substitution C G upstream_gene_variant LIRI-JP 7 76131597 76131597 single base substitution A G exon_variant LIRI-JP 7 76131597 76131597 single base substitution A G intron_variant LIRI-JP 7 76131597 76131597 single base substitution A G upstream_gene_variant LIRI-JP 7 76131974 76131974 single base substitution C G downstream_gene_variant LIRI-JP 7 76131974 76131974 single base substitution C G intron_variant LIRI-JP 7 76131974 76131974 single base substitution C G upstream_gene_variant LIRI-JP 7 76132411 76132411 single base substitution G A downstream_gene_variant LIRI-JP 7 76132411 76132411 single base substitution G A intron_variant LIRI-JP 7 76132411 76132411 single base substitution G A upstream_gene_variant LIRI-JP 7 76135895 76135895 single base substitution C T downstream_gene_variant LIRI-JP 7 76136085 76136085 single base substitution A G downstream_gene_variant LIRI-JP 7 76136317 76136317 single base substitution C G downstream_gene_variant LIRI-JP 7 76137411 76137411 single base substitution A T downstream_gene_variant LIRI-JP 7 76138398 76138398 single base substitution A C downstream_gene_variant LUSC-KR 7 76086039 76086039 single base substitution C T upstream_gene_variant LUSC-KR 7 76086188 76086188 single base substitution G A upstream_gene_variant LUSC-KR 7 76086922 76086922 single base substitution C A upstream_gene_variant LUSC-KR 7 76087017 76087017 single base substitution T C upstream_gene_variant LUSC-KR 7 76087163 76087163 single base substitution G C upstream_gene_variant LUSC-KR 7 76089504 76089504 single base substitution T G upstream_gene_variant LUSC-KR 7 76089854 76089854 single base substitution T A upstream_gene_variant LUSC-KR 7 76090118 76090118 single base substitution T C upstream_gene_variant LUSC-KR 7 76090930 76090930 single base substitution G A upstream_gene_variant LUSC-KR 7 76093064 76093064 single base substitution A G intron_variant LUSC-KR 7 76093661 76093661 single base substitution C A intron_variant LUSC-KR 7 76093682 76093682 single base substitution G T intron_variant LUSC-KR 7 76093803 76093803 single base substitution G T intron_variant LUSC-KR 7 76094032 76094032 single base substitution T A intron_variant LUSC-KR 7 76096001 76096001 single base substitution C T intron_variant LUSC-KR 7 76096103 76096103 single base substitution C G intron_variant LUSC-KR 7 76096194 76096194 single base substitution T C intron_variant LUSC-KR 7 76096560 76096560 single base substitution G A intron_variant LUSC-KR 7 76096560 76096560 single base substitution G A upstream_gene_variant LUSC-KR 7 76097482 76097482 single base substitution G A intron_variant LUSC-KR 7 76097482 76097482 single base substitution G A upstream_gene_variant LUSC-KR 7 76097895 76097895 single base substitution C T intron_variant LUSC-KR 7 76097895 76097895 single base substitution C T upstream_gene_variant LUSC-KR 7 76097994 76097994 single base substitution C T intron_variant LUSC-KR 7 76097994 76097994 single base substitution C T upstream_gene_variant LUSC-KR 7 76098341 76098341 single base substitution C T intron_variant LUSC-KR 7 76098341 76098341 single base substitution C T upstream_gene_variant LUSC-KR 7 76099101 76099101 single base substitution G A intron_variant LUSC-KR 7 76099101 76099101 single base substitution G A upstream_gene_variant LUSC-KR 7 76099159 76099159 single base substitution T C intron_variant LUSC-KR 7 76099159 76099159 single base substitution T C upstream_gene_variant LUSC-KR 7 76099423 76099423 single base substitution T A intron_variant LUSC-KR 7 76099423 76099423 single base substitution T A upstream_gene_variant LUSC-KR 7 76099560 76099560 single base substitution T C intron_variant LUSC-KR 7 76099560 76099560 single base substitution T C upstream_gene_variant LUSC-KR 7 76100224 76100224 single base substitution T C intron_variant LUSC-KR 7 76100224 76100224 single base substitution T C upstream_gene_variant LUSC-KR 7 76100906 76100906 single base substitution C T intron_variant LUSC-KR 7 76100906 76100906 single base substitution C T upstream_gene_variant LUSC-KR 7 76100939 76100939 single base substitution G A intron_variant LUSC-KR 7 76100939 76100939 single base substitution G A upstream_gene_variant LUSC-KR 7 76102306 76102306 single base substitution T G intron_variant LUSC-KR 7 76102742 76102742 single base substitution T A intron_variant LUSC-KR 7 76102742 76102742 single base substitution T A upstream_gene_variant LUSC-KR 7 76103342 76103342 single base substitution G A intron_variant LUSC-KR 7 76103342 76103342 single base substitution G A upstream_gene_variant LUSC-KR 7 76107049 76107049 single base substitution T C intron_variant LUSC-KR 7 76107049 76107049 single base substitution T C upstream_gene_variant LUSC-KR 7 76107546 76107546 single base substitution G A intron_variant LUSC-KR 7 76107546 76107546 single base substitution G A upstream_gene_variant LUSC-KR 7 76107548 76107548 single base substitution A G intron_variant LUSC-KR 7 76107548 76107548 single base substitution A G upstream_gene_variant LUSC-KR 7 76112036 76112036 single base substitution G A downstream_gene_variant LUSC-KR 7 76112036 76112036 single base substitution G A synonymous_variant T160T 480G>A LUSC-KR 7 76112036 76112036 single base substitution G A synonymous_variant T69T 207G>A LUSC-KR 7 76112183 76112183 single base substitution C T downstream_gene_variant LUSC-KR 7 76112183 76112183 single base substitution C T synonymous_variant P118P 354C>T LUSC-KR 7 76112183 76112183 single base substitution C T synonymous_variant P209P 627C>T LUSC-KR 7 76112194 76112194 single base substitution G A downstream_gene_variant LUSC-KR 7 76112194 76112194 single base substitution G A missense_variant R122H 365G>A LUSC-KR 7 76112194 76112194 single base substitution G A missense_variant R213H 638G>A LUSC-KR 7 76112509 76112509 single base substitution G A downstream_gene_variant LUSC-KR 7 76112509 76112509 single base substitution G A intron_variant LUSC-KR 7 76112518 76112518 single base substitution C T downstream_gene_variant LUSC-KR 7 76112518 76112518 single base substitution C T intron_variant LUSC-KR 7 76112591 76112591 single base substitution C A downstream_gene_variant LUSC-KR 7 76112591 76112591 single base substitution C A intron_variant LUSC-KR 7 76113899 76113899 single base substitution A G downstream_gene_variant LUSC-KR 7 76113899 76113899 single base substitution A G intron_variant LUSC-KR 7 76115539 76115539 single base substitution C G downstream_gene_variant LUSC-KR 7 76115539 76115539 single base substitution C G intron_variant LUSC-KR 7 76116650 76116650 single base substitution C G downstream_gene_variant LUSC-KR 7 76116650 76116650 single base substitution C G intron_variant LUSC-KR 7 76116650 76116650 single base substitution C G upstream_gene_variant LUSC-KR 7 76117035 76117035 single base substitution C T intron_variant LUSC-KR 7 76117035 76117035 single base substitution C T upstream_gene_variant LUSC-KR 7 76117074 76117074 single base substitution C T intron_variant LUSC-KR 7 76117074 76117074 single base substitution C T upstream_gene_variant LUSC-KR 7 76120852 76120852 single base substitution G A intron_variant LUSC-KR 7 76120852 76120852 single base substitution G A upstream_gene_variant LUSC-KR 7 76121582 76121582 single base substitution A C intron_variant LUSC-KR 7 76121720 76121720 single base substitution G A intron_variant LUSC-KR 7 76122878 76122878 single base substitution A G intron_variant LUSC-KR 7 76123127 76123127 single base substitution T G intron_variant LUSC-KR 7 76123554 76123554 single base substitution C T intron_variant LUSC-KR 7 76123644 76123644 single base substitution C T intron_variant LUSC-KR 7 76125477 76125477 single base substitution C T intron_variant LUSC-KR 7 76125477 76125477 single base substitution C T upstream_gene_variant LUSC-KR 7 76126426 76126426 single base substitution G A intron_variant LUSC-KR 7 76126426 76126426 single base substitution G A upstream_gene_variant LUSC-KR 7 76126505 76126505 single base substitution G T intron_variant LUSC-KR 7 76126505 76126505 single base substitution G T upstream_gene_variant LUSC-KR 7 76126841 76126841 single base substitution C T intron_variant LUSC-KR 7 76126841 76126841 single base substitution C T upstream_gene_variant LUSC-KR 7 76126857 76126857 single base substitution T C intron_variant LUSC-KR 7 76126857 76126857 single base substitution T C upstream_gene_variant LUSC-KR 7 76129408 76129408 single base substitution C G exon_variant LUSC-KR 7 76129408 76129408 single base substitution C G intron_variant LUSC-KR 7 76129408 76129408 single base substitution C G upstream_gene_variant LUSC-KR 7 76129685 76129685 single base substitution C G exon_variant LUSC-KR 7 76129685 76129685 single base substitution C G intron_variant LUSC-KR 7 76129685 76129685 single base substitution C G upstream_gene_variant LUSC-KR 7 76129758 76129758 single base substitution G A exon_variant LUSC-KR 7 76129758 76129758 single base substitution G A missense_variant G293E 878G>A LUSC-KR 7 76129758 76129758 single base substitution G A missense_variant G337E 1010G>A LUSC-KR 7 76129758 76129758 single base substitution G A missense_variant G384E 1151G>A LUSC-KR 7 76129758 76129758 single base substitution G A splice_region_variant LUSC-KR 7 76129758 76129758 single base substitution G A upstream_gene_variant LUSC-KR 7 76129930 76129930 single base substitution T G intron_variant LUSC-KR 7 76129930 76129930 single base substitution T G upstream_gene_variant LUSC-KR 7 76130334 76130334 single base substitution C A intron_variant LUSC-KR 7 76130334 76130334 single base substitution C A upstream_gene_variant LUSC-KR 7 76130450 76130450 single base substitution T G intron_variant LUSC-KR 7 76130450 76130450 single base substitution T G upstream_gene_variant LUSC-KR 7 76130526 76130526 single base substitution C T intron_variant LUSC-KR 7 76130526 76130526 single base substitution C T upstream_gene_variant LUSC-KR 7 76130717 76130717 single base substitution C T intron_variant LUSC-KR 7 76130717 76130717 single base substitution C T upstream_gene_variant LUSC-KR 7 76131564 76131564 single base substitution G A exon_variant LUSC-KR 7 76131564 76131564 single base substitution G A intron_variant LUSC-KR 7 76131564 76131564 single base substitution G A upstream_gene_variant LUSC-KR 7 76131597 76131597 single base substitution A G exon_variant LUSC-KR 7 76131597 76131597 single base substitution A G intron_variant LUSC-KR 7 76131597 76131597 single base substitution A G upstream_gene_variant LUSC-KR 7 76133041 76133041 single base substitution A G downstream_gene_variant LUSC-KR 7 76133041 76133041 single base substitution A G intron_variant LUSC-KR 7 76133409 76133409 single base substitution G T downstream_gene_variant LUSC-KR 7 76133409 76133409 single base substitution G T intron_variant LUSC-KR 7 76133778 76133778 single base substitution C A downstream_gene_variant LUSC-KR 7 76133778 76133778 single base substitution C A intron_variant LUSC-KR 7 76137974 76137974 single base substitution C T downstream_gene_variant LUSC-KR 7 76140023 76140023 single base substitution G A downstream_gene_variant LUSC-US 7 76111997 76111997 single base substitution C T downstream_gene_variant LUSC-US 7 76111997 76111997 single base substitution C T synonymous_variant P147P 441C>T LUSC-US 7 76111997 76111997 single base substitution C T synonymous_variant P56P 168C>T LUSC-US 7 76112361 76112361 single base substitution G C downstream_gene_variant LUSC-US 7 76112361 76112361 single base substitution G C missense_variant A178P 532G>C LUSC-US 7 76112361 76112361 single base substitution G C missense_variant A269P 805G>C LUSC-US 7 76126661 76126661 single base substitution G T intron_variant LUSC-US 7 76126661 76126661 single base substitution G T synonymous_variant T248T 744G>T LUSC-US 7 76126661 76126661 single base substitution G T synonymous_variant T339T 1017G>T LUSC-US 7 76126661 76126661 single base substitution G T upstream_gene_variant LUSC-US 7 76132846 76132846 single base substitution C T downstream_gene_variant LUSC-US 7 76132846 76132846 single base substitution C T exon_variant LUSC-US 7 76132846 76132846 single base substitution C T missense_variant P407L 1220C>T LUSC-US 7 76132846 76132846 single base substitution C T missense_variant P451L 1352C>T LUSC-US 7 76132846 76132846 single base substitution C T missense_variant P498L 1493C>T LUSC-US 7 76132847 76132847 single base substitution C A downstream_gene_variant LUSC-US 7 76132847 76132847 single base substitution C A exon_variant LUSC-US 7 76132847 76132847 single base substitution C A synonymous_variant P407P 1221C>A LUSC-US 7 76132847 76132847 single base substitution C A synonymous_variant P451P 1353C>A LUSC-US 7 76132847 76132847 single base substitution C A synonymous_variant P498P 1494C>A LUSC-US 7 76134751 76134751 single base substitution A G downstream_gene_variant LUSC-US 7 76134751 76134751 single base substitution A G exon_variant LUSC-US 7 76134751 76134751 single base substitution A G missense_variant S477G 1429A>G LUSC-US 7 76134751 76134751 single base substitution A G missense_variant S521G 1561A>G LUSC-US 7 76134751 76134751 single base substitution A G missense_variant S568G 1702A>G MALY-DE 7 76110072 76110072 single base substitution G A downstream_gene_variant MALY-DE 7 76110072 76110072 single base substitution G A exon_variant MALY-DE 7 76110072 76110072 single base substitution G A intron_variant MALY-DE 7 76110072 76110072 single base substitution G A stop_gained W82* 246G>A MALY-DE 7 76112816 76112816 single base substitution C T downstream_gene_variant MALY-DE 7 76112816 76112816 single base substitution C T intron_variant MALY-DE 7 76113696 76113696 deletion of <=200bp C - downstream_gene_variant MALY-DE 7 76113696 76113696 deletion of <=200bp C - intron_variant MELA-AU 7 76088081 76088081 single base substitution C T upstream_gene_variant MELA-AU 7 76089622 76089622 single base substitution G A upstream_gene_variant MELA-AU 7 76090211 76090211 single base substitution G A upstream_gene_variant MELA-AU 7 76092765 76092765 single base substitution C T 5_prime_UTR_variant MELA-AU 7 76092765 76092765 single base substitution C T intron_variant MELA-AU 7 76094363 76094363 single base substitution C T intron_variant MELA-AU 7 76094988 76094988 single base substitution C T intron_variant MELA-AU 7 76094992 76094992 single base substitution G A intron_variant MELA-AU 7 76095999 76095999 single base substitution C T intron_variant MELA-AU 7 76097291 76097291 single base substitution C T intron_variant MELA-AU 7 76097291 76097291 single base substitution C T upstream_gene_variant MELA-AU 7 76097306 76097307 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 7 76097306 76097307 multiple base substitution (>=2bp and <=200bp) CC AT upstream_gene_variant MELA-AU 7 76097518 76097518 single base substitution C T intron_variant MELA-AU 7 76097518 76097518 single base substitution C T upstream_gene_variant MELA-AU 7 76098533 76098533 single base substitution G T intron_variant MELA-AU 7 76098533 76098533 single base substitution G T upstream_gene_variant MELA-AU 7 76100464 76100464 single base substitution C T intron_variant MELA-AU 7 76100464 76100464 single base substitution C T upstream_gene_variant MELA-AU 7 76100884 76100884 single base substitution T G intron_variant MELA-AU 7 76100884 76100884 single base substitution T G upstream_gene_variant MELA-AU 7 76100905 76100905 single base substitution G C intron_variant MELA-AU 7 76100905 76100905 single base substitution G C upstream_gene_variant MELA-AU 7 76101011 76101011 single base substitution C T intron_variant MELA-AU 7 76101011 76101011 single base substitution C T upstream_gene_variant MELA-AU 7 76102400 76102400 single base substitution C T intron_variant MELA-AU 7 76102402 76102403 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 76103172 76103173 multiple base substitution (>=2bp and <=200bp) GA TC intron_variant MELA-AU 7 76103172 76103173 multiple base substitution (>=2bp and <=200bp) GA TC upstream_gene_variant MELA-AU 7 76105029 76105029 single base substitution C T intron_variant MELA-AU 7 76105029 76105029 single base substitution C T upstream_gene_variant MELA-AU 7 76105735 76105735 single base substitution C T intron_variant MELA-AU 7 76105735 76105735 single base substitution C T upstream_gene_variant MELA-AU 7 76105801 76105801 single base substitution C T intron_variant MELA-AU 7 76105801 76105801 single base substitution C T upstream_gene_variant MELA-AU 7 76109105 76109105 single base substitution A G intron_variant MELA-AU 7 76109105 76109105 single base substitution A G upstream_gene_variant MELA-AU 7 76109923 76109923 single base substitution C T downstream_gene_variant MELA-AU 7 76109923 76109923 single base substitution C T exon_variant MELA-AU 7 76109923 76109923 single base substitution C T intron_variant MELA-AU 7 76109923 76109923 single base substitution C T missense_variant P33S 97C>T MELA-AU 7 76110075 76110076 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 7 76110075 76110076 multiple base substitution (>=2bp and <=200bp) CC AT exon_variant MELA-AU 7 76110075 76110076 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 7 76110075 76110076 multiple base substitution (>=2bp and <=200bp) CC AT stop_gained TQ83T* MELA-AU 7 76110082 76110082 single base substitution C T downstream_gene_variant MELA-AU 7 76110082 76110082 single base substitution C T exon_variant MELA-AU 7 76110082 76110082 single base substitution C T intron_variant MELA-AU 7 76110082 76110082 single base substitution C T missense_variant R86C 256C>T MELA-AU 7 76110303 76110303 single base substitution C T downstream_gene_variant MELA-AU 7 76110303 76110303 single base substitution C T intron_variant MELA-AU 7 76111090 76111090 single base substitution G A downstream_gene_variant MELA-AU 7 76111090 76111090 single base substitution G A intron_variant MELA-AU 7 76111333 76111333 single base substitution C T downstream_gene_variant MELA-AU 7 76111333 76111333 single base substitution C T intron_variant MELA-AU 7 76111877 76111877 single base substitution C T downstream_gene_variant MELA-AU 7 76111877 76111877 single base substitution C T exon_variant MELA-AU 7 76111877 76111877 single base substitution C T synonymous_variant G107G 321C>T MELA-AU 7 76111877 76111877 single base substitution C T synonymous_variant G16G 48C>T MELA-AU 7 76112234 76112235 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 76112234 76112235 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant VP135VS MELA-AU 7 76112234 76112235 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant VP226VS MELA-AU 7 76112657 76112658 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 76112657 76112658 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 76112663 76112663 single base substitution G A downstream_gene_variant MELA-AU 7 76112663 76112663 single base substitution G A intron_variant MELA-AU 7 76117199 76117199 single base substitution C T intron_variant MELA-AU 7 76117199 76117199 single base substitution C T upstream_gene_variant MELA-AU 7 76117231 76117231 single base substitution C T intron_variant MELA-AU 7 76117231 76117231 single base substitution C T upstream_gene_variant MELA-AU 7 76118268 76118268 single base substitution T C intron_variant MELA-AU 7 76118268 76118268 single base substitution T C upstream_gene_variant MELA-AU 7 76120875 76120875 single base substitution C T intron_variant MELA-AU 7 76120875 76120875 single base substitution C T upstream_gene_variant MELA-AU 7 76121223 76121223 single base substitution C T intron_variant MELA-AU 7 76121223 76121223 single base substitution C T upstream_gene_variant MELA-AU 7 76124090 76124091 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 7 76124747 76124747 single base substitution G A intron_variant MELA-AU 7 76124747 76124747 single base substitution G A upstream_gene_variant MELA-AU 7 76124749 76124749 single base substitution G A intron_variant MELA-AU 7 76124749 76124749 single base substitution G A upstream_gene_variant MELA-AU 7 76124857 76124857 single base substitution G A intron_variant MELA-AU 7 76124857 76124857 single base substitution G A upstream_gene_variant MELA-AU 7 76126725 76126725 single base substitution C T intron_variant MELA-AU 7 76126725 76126725 single base substitution C T missense_variant P270S 808C>T MELA-AU 7 76126725 76126725 single base substitution C T missense_variant P361S 1081C>T MELA-AU 7 76126725 76126725 single base substitution C T upstream_gene_variant MELA-AU 7 76128045 76128045 deletion of <=200bp G - intron_variant MELA-AU 7 76128045 76128045 deletion of <=200bp G - upstream_gene_variant MELA-AU 7 76129312 76129312 single base substitution C T exon_variant MELA-AU 7 76129312 76129312 single base substitution C T intron_variant MELA-AU 7 76129312 76129312 single base substitution C T upstream_gene_variant MELA-AU 7 76130253 76130253 single base substitution C T intron_variant MELA-AU 7 76130253 76130253 single base substitution C T upstream_gene_variant MELA-AU 7 76131543 76131543 single base substitution C T exon_variant MELA-AU 7 76131543 76131543 single base substitution C T intron_variant MELA-AU 7 76131543 76131543 single base substitution C T upstream_gene_variant MELA-AU 7 76131731 76131731 single base substitution C T 3_prime_UTR_variant MELA-AU 7 76131731 76131731 single base substitution C T exon_variant MELA-AU 7 76131731 76131731 single base substitution C T synonymous_variant F358F 1074C>T MELA-AU 7 76131731 76131731 single base substitution C T synonymous_variant F402F 1206C>T MELA-AU 7 76131731 76131731 single base substitution C T synonymous_variant F449F 1347C>T MELA-AU 7 76131731 76131731 single base substitution C T upstream_gene_variant MELA-AU 7 76132074 76132074 single base substitution C T downstream_gene_variant MELA-AU 7 76132074 76132074 single base substitution C T intron_variant MELA-AU 7 76132074 76132074 single base substitution C T upstream_gene_variant MELA-AU 7 76132075 76132075 single base substitution C T downstream_gene_variant MELA-AU 7 76132075 76132075 single base substitution C T intron_variant MELA-AU 7 76132075 76132075 single base substitution C T upstream_gene_variant MELA-AU 7 76132631 76132631 single base substitution C T downstream_gene_variant MELA-AU 7 76132631 76132631 single base substitution C T intron_variant MELA-AU 7 76132631 76132631 single base substitution C T upstream_gene_variant MELA-AU 7 76133364 76133365 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 76133364 76133365 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 76134773 76134773 single base substitution C T downstream_gene_variant MELA-AU 7 76134773 76134773 single base substitution C T exon_variant MELA-AU 7 76134773 76134773 single base substitution C T missense_variant T484I 1451C>T MELA-AU 7 76134773 76134773 single base substitution C T missense_variant T528I 1583C>T MELA-AU 7 76134773 76134773 single base substitution C T missense_variant T575I 1724C>T MELA-AU 7 76135082 76135082 single base substitution C T 3_prime_UTR_variant MELA-AU 7 76135082 76135082 single base substitution C T downstream_gene_variant MELA-AU 7 76135082 76135082 single base substitution C T exon_variant MELA-AU 7 76135993 76135993 single base substitution C T downstream_gene_variant MELA-AU 7 76136069 76136069 single base substitution C T downstream_gene_variant MELA-AU 7 76136128 76136128 single base substitution G A downstream_gene_variant MELA-AU 7 76136534 76136534 single base substitution T A downstream_gene_variant MELA-AU 7 76136873 76136873 single base substitution C T downstream_gene_variant MELA-AU 7 76136982 76136982 single base substitution C T downstream_gene_variant MELA-AU 7 76137506 76137506 single base substitution G A downstream_gene_variant MELA-AU 7 76137544 76137544 single base substitution C T downstream_gene_variant MELA-AU 7 76138790 76138790 single base substitution C T downstream_gene_variant MELA-AU 7 76139209 76139209 single base substitution C T downstream_gene_variant MELA-AU 7 76139487 76139487 single base substitution G A downstream_gene_variant MELA-AU 7 76139864 76139864 single base substitution G A downstream_gene_variant MELA-AU 7 76140146 76140146 single base substitution C T downstream_gene_variant MELA-AU 7 76140198 76140198 single base substitution C T downstream_gene_variant ORCA-IN 7 76093627 76093627 single base substitution G C intron_variant ORCA-IN 7 76104451 76104451 single base substitution G C intron_variant ORCA-IN 7 76104451 76104451 single base substitution G C upstream_gene_variant ORCA-IN 7 76111922 76111922 single base substitution T C downstream_gene_variant ORCA-IN 7 76111922 76111922 single base substitution T C exon_variant ORCA-IN 7 76111922 76111922 single base substitution T C synonymous_variant T122T 366T>C ORCA-IN 7 76111922 76111922 single base substitution T C synonymous_variant T31T 93T>C ORCA-IN 7 76112210 76112210 single base substitution G A downstream_gene_variant ORCA-IN 7 76112210 76112210 single base substitution G A missense_variant M127I 381G>A ORCA-IN 7 76112210 76112210 single base substitution G A missense_variant M218I 654G>A ORCA-IN 7 76112359 76112359 single base substitution G A downstream_gene_variant ORCA-IN 7 76112359 76112359 single base substitution G A missense_variant G177D 530G>A ORCA-IN 7 76112359 76112359 single base substitution G A missense_variant G268D 803G>A ORCA-IN 7 76131650 76131650 single base substitution G A exon_variant ORCA-IN 7 76131650 76131650 single base substitution G A synonymous_variant A331A 993G>A ORCA-IN 7 76131650 76131650 single base substitution G A synonymous_variant A375A 1125G>A ORCA-IN 7 76131650 76131650 single base substitution G A synonymous_variant A422A 1266G>A ORCA-IN 7 76131650 76131650 single base substitution G A upstream_gene_variant ORCA-IN 7 76134453 76134453 single base substitution G A downstream_gene_variant ORCA-IN 7 76134453 76134453 single base substitution G A intron_variant OV-AU 7 76088001 76088001 single base substitution G C upstream_gene_variant OV-AU 7 76107819 76107819 single base substitution T C intron_variant OV-AU 7 76107819 76107819 single base substitution T C upstream_gene_variant OV-AU 7 76119885 76119885 single base substitution T G intron_variant OV-AU 7 76119885 76119885 single base substitution T G upstream_gene_variant OV-AU 7 76132453 76132453 single base substitution G A downstream_gene_variant OV-AU 7 76132453 76132453 single base substitution G A intron_variant OV-AU 7 76132453 76132453 single base substitution G A upstream_gene_variant OV-US 7 76111908 76111908 single base substitution G T downstream_gene_variant OV-US 7 76111908 76111908 single base substitution G T exon_variant OV-US 7 76111908 76111908 single base substitution G T missense_variant D118Y 352G>T OV-US 7 76111908 76111908 single base substitution G T missense_variant D27Y 79G>T PACA-AU 7 76094978 76094978 single base substitution A G intron_variant PACA-AU 7 76095014 76095014 single base substitution C G intron_variant PACA-AU 7 76095667 76095667 single base substitution G A intron_variant PACA-AU 7 76106475 76106475 insertion of <=200bp - GCCCGCCT 5_prime_UTR_variant PACA-AU 7 76106475 76106475 insertion of <=200bp - GCCCGCCT exon_variant PACA-AU 7 76106475 76106475 insertion of <=200bp - GCCCGCCT intron_variant PACA-AU 7 76106475 76106475 insertion of <=200bp - GCCCGCCT upstream_gene_variant PACA-AU 7 76109590 76109590 single base substitution G C intron_variant PACA-AU 7 76109590 76109590 single base substitution G C upstream_gene_variant PACA-AU 7 76109621 76109621 single base substitution C G intron_variant PACA-AU 7 76109621 76109621 single base substitution C G upstream_gene_variant PACA-AU 7 76126683 76126683 single base substitution G A intron_variant PACA-AU 7 76126683 76126683 single base substitution G A missense_variant G256R 766G>A PACA-AU 7 76126683 76126683 single base substitution G A missense_variant G347R 1039G>A PACA-AU 7 76126683 76126683 single base substitution G A upstream_gene_variant PACA-AU 7 76128286 76128286 single base substitution G T intron_variant PACA-AU 7 76128286 76128286 single base substitution G T upstream_gene_variant PACA-AU 7 76136580 76136580 single base substitution T C downstream_gene_variant PACA-AU 7 76138937 76138937 single base substitution G A downstream_gene_variant PACA-AU 7 76140072 76140072 single base substitution A C downstream_gene_variant PACA-CA 7 76095869 76095869 single base substitution T G intron_variant PACA-CA 7 76098765 76098765 single base substitution A C intron_variant PACA-CA 7 76098765 76098765 single base substitution A C upstream_gene_variant PACA-CA 7 76100890 76100890 single base substitution G T intron_variant PACA-CA 7 76100890 76100890 single base substitution G T upstream_gene_variant PACA-CA 7 76104451 76104451 single base substitution G C intron_variant PACA-CA 7 76104451 76104451 single base substitution G C upstream_gene_variant PACA-CA 7 76104515 76104515 single base substitution C G intron_variant PACA-CA 7 76104515 76104515 single base substitution C G upstream_gene_variant PACA-CA 7 76109683 76109683 single base substitution T C intron_variant PACA-CA 7 76109683 76109683 single base substitution T C upstream_gene_variant PACA-CA 7 76109813 76109813 single base substitution G A 5_prime_UTR_variant PACA-CA 7 76109813 76109813 single base substitution G A downstream_gene_variant PACA-CA 7 76109813 76109813 single base substitution G A exon_variant PACA-CA 7 76109813 76109813 single base substitution G A intron_variant PACA-CA 7 76109813 76109813 single base substitution G A upstream_gene_variant PACA-CA 7 76110827 76110827 single base substitution T C downstream_gene_variant PACA-CA 7 76110827 76110827 single base substitution T C intron_variant PACA-CA 7 76112663 76112663 single base substitution G A downstream_gene_variant PACA-CA 7 76112663 76112663 single base substitution G A intron_variant PACA-CA 7 76124758 76124758 single base substitution G C intron_variant PACA-CA 7 76124758 76124758 single base substitution G C upstream_gene_variant PACA-CA 7 76130717 76130717 single base substitution C T intron_variant PACA-CA 7 76130717 76130717 single base substitution C T upstream_gene_variant PACA-CA 7 76135980 76135980 single base substitution C T downstream_gene_variant PACA-CA 7 76137418 76137418 single base substitution G A downstream_gene_variant PACA-CA 7 76137475 76137475 single base substitution A G downstream_gene_variant PACA-CA 7 76137751 76137751 deletion of <=200bp T - downstream_gene_variant PAEN-AU 7 76106475 76106475 insertion of <=200bp - GCCCGCCT 5_prime_UTR_variant PAEN-AU 7 76106475 76106475 insertion of <=200bp - GCCCGCCT exon_variant PAEN-AU 7 76106475 76106475 insertion of <=200bp - GCCCGCCT intron_variant PAEN-AU 7 76106475 76106475 insertion of <=200bp - GCCCGCCT upstream_gene_variant PBCA-DE 7 76093738 76093738 deletion of <=200bp T - intron_variant PBCA-DE 7 76113650 76113650 single base substitution G A downstream_gene_variant PBCA-DE 7 76113650 76113650 single base substitution G A intron_variant PBCA-DE 7 76113696 76113696 deletion of <=200bp C - downstream_gene_variant PBCA-DE 7 76113696 76113696 deletion of <=200bp C - intron_variant PBCA-DE 7 76116164 76116166 deletion of <=200bp GCT - downstream_gene_variant PBCA-DE 7 76116164 76116166 deletion of <=200bp GCT - intron_variant PBCA-DE 7 76125159 76125159 single base substitution T C intron_variant PBCA-DE 7 76125159 76125159 single base substitution T C upstream_gene_variant PBCA-DE 7 76127933 76127933 single base substitution G A intron_variant PBCA-DE 7 76127933 76127933 single base substitution G A upstream_gene_variant PBCA-DE 7 76128045 76128045 deletion of <=200bp G - intron_variant PBCA-DE 7 76128045 76128045 deletion of <=200bp G - upstream_gene_variant PBCA-DE 7 76128205 76128205 insertion of <=200bp - A intron_variant PBCA-DE 7 76128205 76128205 insertion of <=200bp - A upstream_gene_variant PBCA-DE 7 76128235 76128235 deletion of <=200bp T - intron_variant PBCA-DE 7 76128235 76128235 deletion of <=200bp T - upstream_gene_variant PRAD-CA 7 76113363 76113363 single base substitution C T downstream_gene_variant PRAD-CA 7 76113363 76113363 single base substitution C T intron_variant PRAD-UK 7 76087503 76087503 deletion of <=200bp C - upstream_gene_variant PRAD-UK 7 76108632 76108632 single base substitution C T intron_variant PRAD-UK 7 76108632 76108632 single base substitution C T upstream_gene_variant PRAD-UK 7 76112351 76112351 single base substitution C T downstream_gene_variant PRAD-UK 7 76112351 76112351 single base substitution C T synonymous_variant N174N 522C>T PRAD-UK 7 76112351 76112351 single base substitution C T synonymous_variant N265N 795C>T PRAD-UK 7 76118343 76118343 single base substitution T A intron_variant PRAD-UK 7 76118343 76118343 single base substitution T A upstream_gene_variant PRAD-UK 7 76123890 76123890 insertion of <=200bp - C intron_variant PRAD-UK 7 76130326 76130326 single base substitution C T intron_variant PRAD-UK 7 76130326 76130326 single base substitution C T upstream_gene_variant PRAD-UK 7 76134003 76134003 single base substitution C G downstream_gene_variant PRAD-UK 7 76134003 76134003 single base substitution C G intron_variant PRAD-UK 7 76138385 76138385 single base substitution C T downstream_gene_variant PRAD-US 7 76111999 76111999 insertion of <=200bp - G downstream_gene_variant PRAD-US 7 76111999 76111999 insertion of <=200bp - G frameshift_variant L148R? PRAD-US 7 76111999 76111999 insertion of <=200bp - G frameshift_variant L57R? PRAD-US 7 76112249 76112249 deletion of <=200bp A - downstream_gene_variant PRAD-US 7 76112249 76112249 deletion of <=200bp A - frameshift_variant P140 PRAD-US 7 76112249 76112249 deletion of <=200bp A - frameshift_variant P231 PRAD-US 7 76140012 76140014 deletion of <=200bp CTC - downstream_gene_variant RECA-EU 7 76111466 76111466 single base substitution A C downstream_gene_variant RECA-EU 7 76111466 76111466 single base substitution A C intron_variant RECA-EU 7 76112663 76112663 single base substitution G A downstream_gene_variant RECA-EU 7 76112663 76112663 single base substitution G A intron_variant SKCA-BR 7 76088749 76088749 single base substitution A G upstream_gene_variant SKCA-BR 7 76089490 76089490 single base substitution T C upstream_gene_variant SKCA-BR 7 76089963 76089963 single base substitution C A upstream_gene_variant SKCA-BR 7 76090197 76090197 single base substitution G A upstream_gene_variant SKCA-BR 7 76092361 76092361 single base substitution G C intron_variant SKCA-BR 7 76092418 76092418 insertion of <=200bp - CT intron_variant SKCA-BR 7 76093562 76093562 single base substitution A G intron_variant SKCA-BR 7 76093686 76093686 single base substitution G C intron_variant SKCA-BR 7 76095909 76095910 deletion of <=200bp CT - intron_variant SKCA-BR 7 76096506 76096506 single base substitution A G intron_variant SKCA-BR 7 76096506 76096506 single base substitution A G upstream_gene_variant SKCA-BR 7 76096701 76096701 single base substitution G A intron_variant SKCA-BR 7 76096701 76096701 single base substitution G A upstream_gene_variant SKCA-BR 7 76097214 76097214 single base substitution C T intron_variant SKCA-BR 7 76097214 76097214 single base substitution C T upstream_gene_variant SKCA-BR 7 76097764 76097767 deletion of <=200bp CATT - intron_variant SKCA-BR 7 76097764 76097767 deletion of <=200bp CATT - upstream_gene_variant SKCA-BR 7 76097764 76097776 deletion of <=200bp CATTTTTTTTTTT - intron_variant SKCA-BR 7 76097764 76097776 deletion of <=200bp CATTTTTTTTTTT - upstream_gene_variant SKCA-BR 7 76098511 76098511 single base substitution G A intron_variant SKCA-BR 7 76098511 76098511 single base substitution G A upstream_gene_variant SKCA-BR 7 76101699 76101699 single base substitution G A intron_variant SKCA-BR 7 76103009 76103009 single base substitution C T intron_variant SKCA-BR 7 76103009 76103009 single base substitution C T upstream_gene_variant SKCA-BR 7 76103215 76103215 single base substitution G A intron_variant SKCA-BR 7 76103215 76103215 single base substitution G A upstream_gene_variant SKCA-BR 7 76103236 76103237 deletion of <=200bp CT - intron_variant SKCA-BR 7 76103236 76103237 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 7 76107134 76107134 single base substitution T C intron_variant SKCA-BR 7 76107134 76107134 single base substitution T C upstream_gene_variant SKCA-BR 7 76108846 76108846 single base substitution G A intron_variant SKCA-BR 7 76108846 76108846 single base substitution G A upstream_gene_variant SKCA-BR 7 76109351 76109351 single base substitution C T intron_variant SKCA-BR 7 76109351 76109351 single base substitution C T upstream_gene_variant SKCA-BR 7 76110124 76110124 single base substitution C T downstream_gene_variant SKCA-BR 7 76110124 76110124 single base substitution C T intron_variant SKCA-BR 7 76111506 76111506 single base substitution T G downstream_gene_variant SKCA-BR 7 76111506 76111506 single base substitution T G intron_variant SKCA-BR 7 76112054 76112054 single base substitution C T downstream_gene_variant SKCA-BR 7 76112054 76112054 single base substitution C T synonymous_variant S166S 498C>T SKCA-BR 7 76112054 76112054 single base substitution C T synonymous_variant S75S 225C>T SKCA-BR 7 76113325 76113325 single base substitution G A downstream_gene_variant SKCA-BR 7 76113325 76113325 single base substitution G A intron_variant SKCA-BR 7 76114174 76114174 single base substitution T G downstream_gene_variant SKCA-BR 7 76114174 76114174 single base substitution T G intron_variant SKCA-BR 7 76115975 76115975 single base substitution A G downstream_gene_variant SKCA-BR 7 76115975 76115975 single base substitution A G intron_variant SKCA-BR 7 76118984 76118984 single base substitution A T intron_variant SKCA-BR 7 76118984 76118984 single base substitution A T upstream_gene_variant SKCA-BR 7 76120852 76120852 single base substitution G A intron_variant SKCA-BR 7 76120852 76120852 single base substitution G A upstream_gene_variant SKCA-BR 7 76121542 76121542 single base substitution G A exon_variant SKCA-BR 7 76121542 76121542 single base substitution G A synonymous_variant K236K 708G>A SKCA-BR 7 76121542 76121542 single base substitution G A synonymous_variant K327K 981G>A SKCA-BR 7 76121720 76121720 single base substitution G A intron_variant SKCA-BR 7 76121767 76121767 single base substitution C T intron_variant SKCA-BR 7 76121774 76121774 single base substitution C T intron_variant SKCA-BR 7 76122983 76122983 single base substitution A G intron_variant SKCA-BR 7 76123127 76123127 single base substitution T G intron_variant SKCA-BR 7 76126587 76126587 single base substitution C G intron_variant SKCA-BR 7 76126587 76126587 single base substitution C G upstream_gene_variant SKCA-BR 7 76127508 76127508 single base substitution T C intron_variant SKCA-BR 7 76127508 76127508 single base substitution T C upstream_gene_variant SKCA-BR 7 76127608 76127608 single base substitution G A intron_variant SKCA-BR 7 76127608 76127608 single base substitution G A upstream_gene_variant SKCA-BR 7 76128044 76128045 deletion of <=200bp TG - intron_variant SKCA-BR 7 76128044 76128045 deletion of <=200bp TG - upstream_gene_variant SKCA-BR 7 76128206 76128206 single base substitution G C intron_variant SKCA-BR 7 76128206 76128206 single base substitution G C upstream_gene_variant SKCA-BR 7 76129758 76129758 single base substitution G A exon_variant SKCA-BR 7 76129758 76129758 single base substitution G A missense_variant G293E 878G>A SKCA-BR 7 76129758 76129758 single base substitution G A missense_variant G337E 1010G>A SKCA-BR 7 76129758 76129758 single base substitution G A missense_variant G384E 1151G>A SKCA-BR 7 76129758 76129758 single base substitution G A splice_region_variant SKCA-BR 7 76129758 76129758 single base substitution G A upstream_gene_variant SKCA-BR 7 76129863 76129863 single base substitution C T intron_variant SKCA-BR 7 76129863 76129863 single base substitution C T upstream_gene_variant SKCA-BR 7 76130468 76130468 single base substitution A G intron_variant SKCA-BR 7 76130468 76130468 single base substitution A G upstream_gene_variant SKCA-BR 7 76130966 76130966 single base substitution A C intron_variant SKCA-BR 7 76130966 76130966 single base substitution A C upstream_gene_variant SKCA-BR 7 76131328 76131328 single base substitution C G exon_variant SKCA-BR 7 76131328 76131328 single base substitution C G intron_variant SKCA-BR 7 76131328 76131328 single base substitution C G upstream_gene_variant SKCA-BR 7 76131453 76131453 single base substitution T C exon_variant SKCA-BR 7 76131453 76131453 single base substitution T C intron_variant SKCA-BR 7 76131453 76131453 single base substitution T C upstream_gene_variant SKCA-BR 7 76131695 76131695 single base substitution A G 3_prime_UTR_variant SKCA-BR 7 76131695 76131695 single base substitution A G exon_variant SKCA-BR 7 76131695 76131695 single base substitution A G synonymous_variant L346L 1038A>G SKCA-BR 7 76131695 76131695 single base substitution A G synonymous_variant L390L 1170A>G SKCA-BR 7 76131695 76131695 single base substitution A G synonymous_variant L437L 1311A>G SKCA-BR 7 76131695 76131695 single base substitution A G upstream_gene_variant SKCA-BR 7 76131851 76131851 single base substitution T G downstream_gene_variant SKCA-BR 7 76131851 76131851 single base substitution T G intron_variant SKCA-BR 7 76131851 76131851 single base substitution T G upstream_gene_variant SKCA-BR 7 76132010 76132010 single base substitution C T downstream_gene_variant SKCA-BR 7 76132010 76132010 single base substitution C T intron_variant SKCA-BR 7 76132010 76132010 single base substitution C T upstream_gene_variant SKCA-BR 7 76132118 76132118 single base substitution C T downstream_gene_variant SKCA-BR 7 76132118 76132118 single base substitution C T intron_variant SKCA-BR 7 76132118 76132118 single base substitution C T upstream_gene_variant SKCA-BR 7 76132119 76132119 single base substitution C T downstream_gene_variant SKCA-BR 7 76132119 76132119 single base substitution C T intron_variant SKCA-BR 7 76132119 76132119 single base substitution C T upstream_gene_variant SKCA-BR 7 76132898 76132898 single base substitution T C downstream_gene_variant SKCA-BR 7 76132898 76132898 single base substitution T C exon_variant SKCA-BR 7 76132898 76132898 single base substitution T C synonymous_variant G424G 1272T>C SKCA-BR 7 76132898 76132898 single base substitution T C synonymous_variant G468G 1404T>C SKCA-BR 7 76132898 76132898 single base substitution T C synonymous_variant G515G 1545T>C SKCA-BR 7 76133074 76133074 single base substitution C T downstream_gene_variant SKCA-BR 7 76133074 76133074 single base substitution C T intron_variant SKCA-BR 7 76133124 76133124 single base substitution C G downstream_gene_variant SKCA-BR 7 76133124 76133124 single base substitution C G intron_variant SKCA-BR 7 76133131 76133131 single base substitution T C downstream_gene_variant SKCA-BR 7 76133131 76133131 single base substitution T C intron_variant SKCA-BR 7 76133305 76133305 single base substitution T G downstream_gene_variant SKCA-BR 7 76133305 76133305 single base substitution T G intron_variant SKCA-BR 7 76133353 76133353 single base substitution C T downstream_gene_variant SKCA-BR 7 76133353 76133353 single base substitution C T intron_variant SKCA-BR 7 76133427 76133427 insertion of <=200bp - CAG downstream_gene_variant SKCA-BR 7 76133427 76133427 insertion of <=200bp - CAG intron_variant SKCA-BR 7 76133584 76133584 single base substitution C T downstream_gene_variant SKCA-BR 7 76133584 76133584 single base substitution C T intron_variant SKCA-BR 7 76133778 76133778 single base substitution C A downstream_gene_variant SKCA-BR 7 76133778 76133778 single base substitution C A intron_variant SKCA-BR 7 76133994 76133994 single base substitution T A downstream_gene_variant SKCA-BR 7 76133994 76133994 single base substitution T A intron_variant SKCA-BR 7 76134326 76134326 single base substitution A G downstream_gene_variant SKCA-BR 7 76134326 76134326 single base substitution A G intron_variant SKCA-BR 7 76134671 76134671 single base substitution C T downstream_gene_variant SKCA-BR 7 76134671 76134671 single base substitution C T intron_variant SKCA-BR 7 76135014 76135014 single base substitution A G 3_prime_UTR_variant SKCA-BR 7 76135014 76135014 single base substitution A G downstream_gene_variant SKCA-BR 7 76135014 76135014 single base substitution A G exon_variant SKCA-BR 7 76135058 76135058 single base substitution T C 3_prime_UTR_variant SKCA-BR 7 76135058 76135058 single base substitution T C downstream_gene_variant SKCA-BR 7 76135058 76135058 single base substitution T C exon_variant SKCA-BR 7 76138349 76138351 deletion of <=200bp CAA - downstream_gene_variant SKCM-US 7 76111856 76111856 single base substitution C T downstream_gene_variant SKCM-US 7 76111856 76111856 single base substitution C T exon_variant SKCM-US 7 76111856 76111856 single base substitution C T synonymous_variant F100F 300C>T SKCM-US 7 76111856 76111856 single base substitution C T synonymous_variant F9F 27C>T SKCM-US 7 76111857 76111857 single base substitution C T downstream_gene_variant SKCM-US 7 76111857 76111857 single base substitution C T exon_variant SKCM-US 7 76111857 76111857 single base substitution C T missense_variant P101S 301C>T SKCM-US 7 76111857 76111857 single base substitution C T missense_variant P10S 28C>T SKCM-US 7 76111877 76111877 single base substitution C T downstream_gene_variant SKCM-US 7 76111877 76111877 single base substitution C T exon_variant SKCM-US 7 76111877 76111877 single base substitution C T synonymous_variant G107G 321C>T SKCM-US 7 76111877 76111877 single base substitution C T synonymous_variant G16G 48C>T SKCM-US 7 76112063 76112063 single base substitution C T downstream_gene_variant SKCM-US 7 76112063 76112063 single base substitution C T synonymous_variant C169C 507C>T SKCM-US 7 76112063 76112063 single base substitution C T synonymous_variant C78C 234C>T SKCM-US 7 76112102 76112102 single base substitution G T downstream_gene_variant SKCM-US 7 76112102 76112102 single base substitution G T synonymous_variant V182V 546G>T SKCM-US 7 76112102 76112102 single base substitution G T synonymous_variant V91V 273G>T SKCM-US 7 76112249 76112249 deletion of <=200bp A - downstream_gene_variant SKCM-US 7 76112249 76112249 deletion of <=200bp A - frameshift_variant P140 SKCM-US 7 76112249 76112249 deletion of <=200bp A - frameshift_variant P231 SKCM-US 7 76112398 76112398 single base substitution G A downstream_gene_variant SKCM-US 7 76112398 76112398 single base substitution G A missense_variant R190H 569G>A SKCM-US 7 76112398 76112398 single base substitution G A missense_variant R281H 842G>A SKCM-US 7 76121490 76121490 single base substitution C T exon_variant SKCM-US 7 76121490 76121490 single base substitution C T missense_variant P219L 656C>T SKCM-US 7 76121490 76121490 single base substitution C T missense_variant P310L 929C>T SKCM-US 7 76126703 76126703 single base substitution C T intron_variant SKCM-US 7 76126703 76126703 single base substitution C T synonymous_variant S262S 786C>T SKCM-US 7 76126703 76126703 single base substitution C T synonymous_variant S353S 1059C>T SKCM-US 7 76126703 76126703 single base substitution C T upstream_gene_variant SKCM-US 7 76126736 76126736 single base substitution C T intron_variant SKCM-US 7 76126736 76126736 single base substitution C T synonymous_variant S273S 819C>T SKCM-US 7 76126736 76126736 single base substitution C T synonymous_variant S364S 1092C>T SKCM-US 7 76126736 76126736 single base substitution C T upstream_gene_variant SKCM-US 7 76140168 76140168 single base substitution G A downstream_gene_variant STAD-US 7 76109916 76109916 single base substitution C A downstream_gene_variant STAD-US 7 76109916 76109916 single base substitution C A exon_variant STAD-US 7 76109916 76109916 single base substitution C A intron_variant STAD-US 7 76109916 76109916 single base substitution C A synonymous_variant T30T 90C>A STAD-US 7 76112200 76112200 single base substitution G A downstream_gene_variant STAD-US 7 76112200 76112200 single base substitution G A missense_variant R124H 371G>A STAD-US 7 76112200 76112200 single base substitution G A missense_variant R215H 644G>A STAD-US 7 76112320 76112320 deletion of <=200bp C - downstream_gene_variant STAD-US 7 76112320 76112320 deletion of <=200bp C - frameshift_variant A164 STAD-US 7 76112320 76112320 deletion of <=200bp C - frameshift_variant A255 STAD-US 7 76112329 76112329 single base substitution C T downstream_gene_variant STAD-US 7 76112329 76112329 single base substitution C T missense_variant A167V 500C>T STAD-US 7 76112329 76112329 single base substitution C T missense_variant A258V 773C>T STAD-US 7 76121562 76121562 single base substitution C A exon_variant STAD-US 7 76121562 76121562 single base substitution C A missense_variant A243E 728C>A STAD-US 7 76121562 76121562 single base substitution C A missense_variant A334E 1001C>A STAD-US 7 76126704 76126704 single base substitution C T intron_variant STAD-US 7 76126704 76126704 single base substitution C T missense_variant R263C 787C>T STAD-US 7 76126704 76126704 single base substitution C T missense_variant R354C 1060C>T STAD-US 7 76126704 76126704 single base substitution C T upstream_gene_variant STAD-US 7 76139983 76139983 deletion of <=200bp G - downstream_gene_variant STAD-US 7 76140158 76140158 single base substitution G A downstream_gene_variant THCA-SA 7 76100517 76100517 single base substitution C T intron_variant THCA-SA 7 76100517 76100517 single base substitution C T upstream_gene_variant THCA-SA 7 76103832 76103832 single base substitution G T intron_variant THCA-SA 7 76103832 76103832 single base substitution G T upstream_gene_variant THCA-SA 7 76111994 76111994 single base substitution C G downstream_gene_variant THCA-SA 7 76111994 76111994 single base substitution C G synonymous_variant A146A 438C>G THCA-SA 7 76111994 76111994 single base substitution C G synonymous_variant A55A 165C>G THCA-SA 7 76132805 76132805 single base substitution C G downstream_gene_variant THCA-SA 7 76132805 76132805 single base substitution C G exon_variant THCA-SA 7 76132805 76132805 single base substitution C G synonymous_variant P393P 1179C>G THCA-SA 7 76132805 76132805 single base substitution C G synonymous_variant P437P 1311C>G THCA-SA 7 76132805 76132805 single base substitution C G synonymous_variant P484P 1452C>G THCA-SA 7 76132898 76132898 single base substitution T C downstream_gene_variant THCA-SA 7 76132898 76132898 single base substitution T C exon_variant THCA-SA 7 76132898 76132898 single base substitution T C synonymous_variant G424G 1272T>C THCA-SA 7 76132898 76132898 single base substitution T C synonymous_variant G468G 1404T>C THCA-SA 7 76132898 76132898 single base substitution T C synonymous_variant G515G 1545T>C THCA-SA 7 76135239 76135239 single base substitution G A 3_prime_UTR_variant THCA-SA 7 76135239 76135239 single base substitution G A downstream_gene_variant THCA-SA 7 76135239 76135239 single base substitution G A exon_variant UCEC-US 7 76109984 76109984 single base substitution G A downstream_gene_variant UCEC-US 7 76109984 76109984 single base substitution G A exon_variant UCEC-US 7 76109984 76109984 single base substitution G A intron_variant UCEC-US 7 76109984 76109984 single base substitution G A missense_variant R53H 158G>A UCEC-US 7 76111931 76111931 single base substitution A G downstream_gene_variant UCEC-US 7 76111931 76111931 single base substitution A G exon_variant UCEC-US 7 76111931 76111931 single base substitution A G synonymous_variant E125E 375A>G UCEC-US 7 76111931 76111931 single base substitution A G synonymous_variant E34E 102A>G UCEC-US 7 76112069 76112069 single base substitution C T downstream_gene_variant UCEC-US 7 76112069 76112069 single base substitution C T synonymous_variant S171S 513C>T UCEC-US 7 76112069 76112069 single base substitution C T synonymous_variant S80S 240C>T UCEC-US 7 76112075 76112075 single base substitution G T downstream_gene_variant UCEC-US 7 76112075 76112075 single base substitution G T synonymous_variant R173R 519G>T UCEC-US 7 76112075 76112075 single base substitution G T synonymous_variant R82R 246G>T UCEC-US 7 76112259 76112259 single base substitution G A downstream_gene_variant UCEC-US 7 76112259 76112259 single base substitution G A missense_variant A144T 430G>A UCEC-US 7 76112259 76112259 single base substitution G A missense_variant A235T 703G>A UCEC-US 7 76132882 76132882 single base substitution A T downstream_gene_variant UCEC-US 7 76132882 76132882 single base substitution A T exon_variant UCEC-US 7 76132882 76132882 single base substitution A T missense_variant Y419F 1256A>T UCEC-US 7 76132882 76132882 single base substitution A T missense_variant Y463F 1388A>T UCEC-US 7 76132882 76132882 single base substitution A T missense_variant Y510F 1529A>T UCEC-US 7 76134824 76134824 single base substitution C T downstream_gene_variant UCEC-US 7 76134824 76134824 single base substitution C T exon_variant UCEC-US 7 76134824 76134824 single base substitution C T missense_variant T501M 1502C>T UCEC-US 7 76134824 76134824 single base substitution C T missense_variant T545M 1634C>T UCEC-US 7 76134824 76134824 single base substitution C T missense_variant T592M 1775C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-D3-A5GO-06 COSM3640671 c.929C>T p.P310L Substitution - Missense 7:76492173-76492173 + TCGA-ER-A194-01 COSM3640673 c.1092C>T p.S364S Substitution - coding silent 7:76497419-76497419 + 93VU147T COSM300761 c.1093C>T p.R365C Substitution - Missense 7:76497420-76497420 + 169 COSM1452121 c.693delA p.H232fs*30 Deletion - Frameshift 7:76482932-76482932 + sysucc-1854T COSM300761 c.1093C>T p.R365C Substitution - Missense 7:76497420-76497420 + OSCC-GB_00900111 COSM3721587 c.1266G>A p.A422A Substitution - coding silent 7:76502333-76502333 + Pat_59_A COSM3028917 c.644G>A p.R215H Substitution - Missense 7:76482883-76482883 + PTC-7C COSM4162458 c.1311A>G p.L437L Substitution - coding silent 7:76502378-76502378 + CN-AML-08-T COSM4162454 c.693A>C p.P231P Substitution - coding silent 7:76482932-76482932 + ESCC-249T COSM3028898 c.351C>T p.D117D Substitution - coding silent 7:76482590-76482590 + TCGA-E9-A1RD-01 COSM1488686 c.1091C>T p.S364F Substitution - Missense 7:76497418-76497418 + TCGA-AG-A026-01 COSM290462 c.1260C>T p.S420S Substitution - coding silent 7:76502327-76502327 + YUKLAB COSM1698772 c.1409C>T p.P470L Substitution - Missense 7:76503445-76503445 + Pat_22_B COSM1452121 c.693delA p.H232fs*30 Deletion - Frameshift 7:76482932-76482932 + ML_09_T_01 COSM4162458 c.1311A>G p.L437L Substitution - coding silent 7:76502378-76502378 + sysucc-886T COSM453404 c.948C>T p.S316S Substitution - coding silent 7:76492192-76492192 + 642 COSM145350 c.731T>C p.F244S Substitution - Missense 7:76482970-76482970 + PTC-10C COSM4162459 c.1545T>C p.G515G Substitution - coding silent 7:76503581-76503581 + PTC-53C COSM4162459 c.1545T>C p.G515G Substitution - coding silent 7:76503581-76503581 + CAL27 COSM4162457 c.1261A>G p.T421A Substitution - Missense 7:76502328-76502328 + TCGA-AX-A0J1-01 COSM1091833 c.158G>A p.R53H Substitution - Missense 7:76480667-76480667 + PTC-70C COSM4162454 c.693A>C p.P231P Substitution - coding silent 7:76482932-76482932 + Pat_36_B COSM1452121 c.693delA p.H232fs*30 Deletion - Frameshift 7:76482932-76482932 + UM-SCC-47 COSM4162457 c.1261A>G p.T421A Substitution - Missense 7:76502328-76502328 + WSU-HN12 COSM300761 c.1093C>T p.R365C Substitution - Missense 7:76497420-76497420 + TCGA-AM-5820-01 COSM3698547 c.1680C>T p.L560L Substitution - coding silent 7:76505412-76505412 + TCGA-AB-2832-03 COSM300761 c.1093C>T p.R365C Substitution - Missense 7:76497420-76497420 + WSU-HN6 COSM4162456 c.1151G>A p.G384E Substitution - Missense 7:76500441-76500441 + CSCC-20-T COSM4467978 c.1519C>T p.L507F Substitution - Missense 7:76503555-76503555 + BICR_22 COSM300761 c.1093C>T p.R365C Substitution - Missense 7:76497420-76497420 + Detroit_562 COSM4162456 c.1151G>A p.G384E Substitution - Missense 7:76500441-76500441 + NOKSI COSM4162456 c.1151G>A p.G384E Substitution - Missense 7:76500441-76500441 + PTC-73C COSM4162456 c.1151G>A p.G384E Substitution - Missense 7:76500441-76500441 + BHY COSM4162456 c.1151G>A p.G384E Substitution - Missense 7:76500441-76500441 + NB-1369 COSM1284657 c.587G>A p.C196Y Substitution - Missense 7:76482826-76482826 + TCGA-AA-A02J-01 COSM300761 c.1093C>T p.R365C Substitution - Missense 7:76497420-76497420 + UM-SCC-11B COSM4162456 c.1151G>A p.G384E Substitution - Missense 7:76500441-76500441 + sysucc-704T COSM5766515 c.1815G>T p.V605V Substitution - coding silent 7:76505547-76505547 + TCGA-19-4068-01 COSM3412308 c.124A>G p.I42V Substitution - Missense 7:76480633-76480633 + TCGA-AG-3882-01 COSM3028922 c.686_687insC p.H232fs*122 Insertion - Frameshift 7:76482925-76482926 + CN-AML-NR-08-Dx COSM3774300 c.627C>T p.P209P Substitution - coding silent 7:76482866-76482866 + CN-AML-CR-63-Dx COSM4162454 c.693A>C p.P231P Substitution - coding silent 7:76482932-76482932 + WSU-HN13 COSM4162456 c.1151G>A p.G384E Substitution - Missense 7:76500441-76500441 + LP6005690-DNA_C02 COSM4412217 c.638G>A p.R213H Substitution - Missense 7:76482877-76482877 + 600 COSM3721587 c.1266G>A p.A422A Substitution - coding silent 7:76502333-76502333 + Pat_44_B COSM5873097 c.1544G>A p.G515D Substitution - Missense 7:76503580-76503580 + EGC3 COSM5062583 c.1439C>T p.T480M Substitution - Missense 7:76503475-76503475 + PD24194a COSM5798618 c.349G>A p.D117N Substitution - Missense 7:76482588-76482588 + CN-AML-CR-51-Dx COSM150316 c.438C>G p.A146A Substitution - coding silent 7:76482677-76482677 + TCGA-BR-6452-01 COSM453405 c.1060C>T p.R354C Substitution - Missense 7:76497387-76497387 + BD93T COSM1091837 c.703G>A p.A235T Substitution - Missense 7:76482942-76482942 + OSCC-GB_01210111 COSM3721587 c.1266G>A p.A422A Substitution - coding silent 7:76502333-76502333 + TCGA-04-1542-01 COSM74457 c.352G>T p.D118Y Substitution - Missense 7:76482591-76482591 + LUAD-NYU284 COSM373276 c.821T>G p.L274R Substitution - Missense 7:76483060-76483060 + 642-1991-01TD COSM145350 c.731T>C p.F244S Substitution - Missense 7:76482970-76482970 + PTC-28C COSM4162457 c.1261A>G p.T421A Substitution - Missense 7:76502328-76502328 + PD8978a COSM5799069 c.1689A>T p.T563T Substitution - coding silent 7:76505421-76505421 + YULOCUS COSM5407905 c.227T>A p.I76N Substitution - Missense 7:76480736-76480736 + TCGA-CU-A3KJ-01 COSM1313290 c.635G>T p.G212V Substitution - Missense 7:76482874-76482874 + tumor_4163639 COSM1161689 c.246G>A p.W82* Substitution - Nonsense 7:76480755-76480755 + UD-SCC-2 COSM4162457 c.1261A>G p.T421A Substitution - Missense 7:76502328-76502328 + 587238 COSM1204681 c.74A>C p.Q25P Substitution - Missense 7:76480583-76480583 + T3446 COSM4679612 c.6C>T p.A2A Substitution - coding silent 7:76480515-76480515 + LP6007398-DNA_A01 COSM5951758 c.349G>C p.D117H Substitution - Missense 7:76482588-76482588 + Pat_26_A COSM5873098 c.1684T>C p.F562L Substitution - Missense 7:76505416-76505416 + Patient_4 COSM3028920 c.677T>C p.V226A Substitution - Missense 7:76482916-76482916 + TCGA-13-2057-01 COSM1330517 c.1793A>T p.D598V Substitution - Missense 7:76505525-76505525 + sysucc-867T COSM4162454 c.693A>C p.P231P Substitution - coding silent 7:76482932-76482932 + TCGA-18-3409-01 COSM747077 c.441C>T p.P147P Substitution - coding silent 7:76482680-76482680 + PTC-7C COSM4162457 c.1261A>G p.T421A Substitution - Missense 7:76502328-76502328 + ME049T COSM230115 c.5C>T p.A2V Substitution - Missense 7:76480514-76480514 + T98G COSM300761 c.1093C>T p.R365C Substitution - Missense 7:76497420-76497420 + Patient_2_Relapse COSM300761 c.1093C>T p.R365C Substitution - Missense 7:76497420-76497420 + Pat_70_B COSM1452121 c.693delA p.H232fs*30 Deletion - Frameshift 7:76482932-76482932 + EGC15 COSM3028959 c.1063G>A p.A355T Substitution - Missense 7:76497390-76497390 + 391 COSM3721586 c.1490T>C p.L497P Substitution - Missense 7:76503526-76503526 + TCGA-BR-8487-01 COSM3882460 c.90C>A p.T30T Substitution - coding silent 7:76480599-76480599 + CN-AML-NR-08-Dx COSM4162454 c.693A>C p.P231P Substitution - coding silent 7:76482932-76482932 + CAL33 COSM300761 c.1093C>T p.R365C Substitution - Missense 7:76497420-76497420 + I2L-P7-Tumor-Organoid COSM5358370 c.1279G>A p.D427N Substitution - Missense 7:76502346-76502346 + S02093 COSM5673272 c.1644C>T p.V548V Substitution - coding silent 7:76505376-76505376 + BICR_22 COSM4162457 c.1261A>G p.T421A Substitution - Missense 7:76502328-76502328 + TCGA-18-3409-01 COSM747068 c.1494C>A p.P498P Substitution - coding silent 7:76503530-76503530 + SCC-25 COSM300761 c.1093C>T p.R365C Substitution - Missense 7:76497420-76497420 + WSU-HN30 COSM300761 c.1093C>T p.R365C Substitution - Missense 7:76497420-76497420 + 326_CLM COSM3028900 c.379A>G p.S127G Substitution - Missense 7:76482618-76482618 + T1772 COSM4679617 c.1508G>A p.C503Y Substitution - Missense 7:76503544-76503544 + TCGA-BS-A0UF-01 COSM1091846 c.1529A>T p.Y510F Substitution - Missense 7:76503565-76503565 + Pat_26_A COSM3028922 c.686_687insC p.H232fs*122 Insertion - Frameshift 7:76482925-76482926 + PAPSPN COSM3028888 c.50C>T p.A17V Substitution - Missense 7:76480559-76480559 + B89-12-Tumor COSM453404 c.948C>T p.S316S Substitution - coding silent 7:76492192-76492192 + T3152 COSM4679613 c.257G>A p.R86H Substitution - Missense 7:76480766-76480766 + UPCI:SCC090 COSM4162457 c.1261A>G p.T421A Substitution - Missense 7:76502328-76502328 + MO_1337 COSM230115 c.5C>T p.A2V Substitution - Missense 7:76480514-76480514 + TCGA-D1-A17B-01 COSM1091834 c.375A>G p.E125E Substitution - coding silent 7:76482614-76482614 + TCGA-AP-A059-01 COSM1091847 c.1775C>T p.T592M Substitution - Missense 7:76505507-76505507 + SCC-15 COSM4162457 c.1261A>G p.T421A Substitution - Missense 7:76502328-76502328 + WSU-HN30 COSM4162457 c.1261A>G p.T421A Substitution - Missense 7:76502328-76502328 + TCGA-K4-A3WS-01 COSM3778577 c.1031C>T p.S344L Substitution - Missense 7:76497358-76497358 + OSCC-GB_00960111 COSM602431 c.366T>C p.T122T Substitution - coding silent 7:76482605-76482605 + YULAN COSM1686029 c.1348C>T p.H450Y Substitution - Missense 7:76502415-76502415 + 8012341 COSM3394890 c.1039G>A p.G347R Substitution - Missense 7:76497366-76497366 + CAL33 COSM4162456 c.1151G>A p.G384E Substitution - Missense 7:76500441-76500441 + Pat_53_A COSM1452121 c.693delA p.H232fs*30 Deletion - Frameshift 7:76482932-76482932 + Pat_53_B COSM1452121 c.693delA p.H232fs*30 Deletion - Frameshift 7:76482932-76482932 + PTC-77C COSM4162456 c.1151G>A p.G384E Substitution - Missense 7:76500441-76500441 + WSU-HN12 COSM4162456 c.1151G>A p.G384E Substitution - Missense 7:76500441-76500441 + TCGA-DT-5265-01 COSM5077329 c.1010-8C>G p.? Unknown 7:76497329-76497329 + B105-Tumor COSM4006774 c.792C>G p.T264T Substitution - coding silent 7:76483031-76483031 + TCGA-14-0865 COSM2154857 c.1052G>A p.C351Y Substitution - Missense 7:76497379-76497379 + SCC-15 COSM4162456 c.1151G>A p.G384E Substitution - Missense 7:76500441-76500441 + TCGA-AG-A02N-01 COSM3028900 c.379A>G p.S127G Substitution - Missense 7:76482618-76482618 + TCGA-GN-A266-06 COSM1250785 c.300C>T p.F100F Substitution - coding silent 7:76482539-76482539 + TCGA-BR-8487-01 COSM3882461 c.773C>T p.A258V Substitution - Missense 7:76483012-76483012 + TCGA-29-1778-01 COSM300761 c.1093C>T p.R365C Substitution - Missense 7:76497420-76497420 + TCGA-EE-A3J7-06 COSM3923974 c.546G>T p.V182V Substitution - coding silent 7:76482785-76482785 + GC8_T COSM150316 c.438C>G p.A146A Substitution - coding silent 7:76482677-76482677 + CRC-03T COSM5451917 c.567G>A p.P189P Substitution - coding silent 7:76482806-76482806 + ESCC_BICR_037T COSM3774300 c.627C>T p.P209P Substitution - coding silent 7:76482866-76482866 + TCGA-18-3409-01 COSM747070 c.1493C>T p.P498L Substitution - Missense 7:76503529-76503529 + Detroit_562 COSM300761 c.1093C>T p.R365C Substitution - Missense 7:76497420-76497420 + ORL-48 COSM4162456 c.1151G>A p.G384E Substitution - Missense 7:76500441-76500441 + WSU-HN6 COSM4162457 c.1261A>G p.T421A Substitution - Missense 7:76502328-76502328 + PTC-77C COSM453404 c.948C>T p.S316S Substitution - coding silent 7:76492192-76492192 + CN-AML-CR-2-Dx COSM300761 c.1093C>T p.R365C Substitution - Missense 7:76497420-76497420 + PDA_032 COSM4162456 c.1151G>A p.G384E Substitution - Missense 7:76500441-76500441 + NOKSI COSM300761 c.1093C>T p.R365C Substitution - Missense 7:76497420-76497420 + PTC-88C COSM3774300 c.627C>T p.P209P Substitution - coding silent 7:76482866-76482866 + 12-P4072 COSM4587558 c.1416C>T p.C472C Substitution - coding silent 7:76503452-76503452 + SB_07 COSM4006774 c.792C>G p.T264T Substitution - coding silent 7:76483031-76483031 + CSCC-44-T COSM4471145 c.1701C>T p.S567S Substitution - coding silent 7:76505433-76505433 + SCC-15 COSM300761 c.1093C>T p.R365C Substitution - Missense 7:76497420-76497420 + TCGA-D1-A17B-01 COSM1091838 c.740A>T p.Y247F Substitution - Missense 7:76482979-76482979 + TCGA-AG-A02N-01 COSM3028901 c.391T>G p.Y131D Substitution - Missense 7:76482630-76482630 + SCC-9 COSM4162456 c.1151G>A p.G384E Substitution - Missense 7:76500441-76500441 + TCGA-BH-A0HA-01 COSM453405 c.1060C>T p.R354C Substitution - Missense 7:76497387-76497387 + SB_07 COSM4884656 c.803G>A p.G268D Substitution - Missense 7:76483042-76483042 + I2L-P7-Tumor-Organoid COSM5358479 c.737C>T p.P246L Substitution - Missense 7:76482976-76482976 + TCGA-BH-A18G-01 COSM1452121 c.693delA p.H232fs*30 Deletion - Frameshift 7:76482932-76482932 + WSU-HN8 COSM4162456 c.1151G>A p.G384E Substitution - Missense 7:76500441-76500441 + B105-0 COSM1755363 c.1839G>A p.G613G Substitution - coding silent 7:76505571-76505571 + BD35T COSM5520160 c.1389+3G>A p.? Unknown 7:76502459-76502459 + UM-SCC-17B COSM4162456 c.1151G>A p.G384E Substitution - Missense 7:76500441-76500441 + ESO-732 COSM1250785 c.300C>T p.F100F Substitution - coding silent 7:76482539-76482539 + SCC-25 COSM4162457 c.1261A>G p.T421A Substitution - Missense 7:76502328-76502328 + TCGA-CC-A7IH-01 COSM4923546 c.882A>T p.P294P Substitution - coding silent 7:76483121-76483121 + T1154 COSM4679615 c.559G>A p.A187T Substitution - Missense 7:76482798-76482798 + S00941 COSM5663859 c.767G>A p.R256Q Substitution - Missense 7:76483006-76483006 + YUZEAL COSM1686029 c.1348C>T p.H450Y Substitution - Missense 7:76502415-76502415 + 93VU147T COSM4162456 c.1151G>A p.G384E Substitution - Missense 7:76500441-76500441 + CSCC-44-T COSM4516056 c.1548_1549CC>TT p.Q517* Substitution - Nonsense 7:76503584-76503585 + PT13 COSM4162457 c.1261A>G p.T421A Substitution - Missense 7:76502328-76502328 + BHY COSM4162457 c.1261A>G p.T421A Substitution - Missense 7:76502328-76502328 + Pat_16_B COSM5873096 c.1475G>A p.R492Q Substitution - Missense 7:76503511-76503511 + TCGA-EE-A2MR-06 COSM3640668 c.301C>T p.P101S Substitution - Missense 7:76482540-76482540 + UPCI:SCC090 COSM4162456 c.1151G>A p.G384E Substitution - Missense 7:76500441-76500441 + LUAD-LC15C COSM342024 c.701C>T p.T234I Substitution - Missense 7:76482940-76482940 + 2476_PT COSM1091847 c.1775C>T p.T592M Substitution - Missense 7:76505507-76505507 + sysucc-1395T COSM5765029 c.738G>A p.P246P Substitution - coding silent 7:76482977-76482977 + B105-0-Tumor COSM1755363 c.1839G>A p.G613G Substitution - coding silent 7:76505571-76505571 + Pat_26_B COSM5873098 c.1684T>C p.F562L Substitution - Missense 7:76505416-76505416 + GC8_T COSM150315 c.275T>C p.M92T Substitution - Missense 7:76482514-76482514 + LN18 COSM300761 c.1093C>T p.R365C Substitution - Missense 7:76497420-76497420 + TCGA-AM-5820-01 COSM3762837 c.382G>A p.V128I Substitution - Missense 7:76482621-76482621 + TP_2064 COSM230115 c.5C>T p.A2V Substitution - Missense 7:76480514-76480514 + pfg008T COSM1452121 c.693delA p.H232fs*30 Deletion - Frameshift 7:76482932-76482932 + Pat_70_A COSM1452121 c.693delA p.H232fs*30 Deletion - Frameshift 7:76482932-76482932 + CRC-26T COSM300761 c.1093C>T p.R365C Substitution - Missense 7:76497420-76497420 + TCGA-ER-A19L-06 COSM3640670 c.842G>A p.R281H Substitution - Missense 7:76483081-76483081 + TCGA-EI-6507-01 COSM1568872 c.1191delA p.N399fs*6 Deletion - Frameshift 7:76500481-76500481 + YULOCUS COSM5407907 c.1307C>T p.S436F Substitution - Missense 7:76502374-76502374 + TCGA-12-0692 COSM2154275 c.615_616delCA p.S205fs*148 Deletion - Frameshift 7:76482854-76482855 + TCGA-E2-A1L8-01 COSM1488685 c.394C>G p.L132V Substitution - Missense 7:76482633-76482633 + TCGA-85-6561-01 COSM747074 c.1017G>T p.T339T Substitution - coding silent 7:76497344-76497344 + WSU-HN13 COSM4162457 c.1261A>G p.T421A Substitution - Missense 7:76502328-76502328 + TCGA-AA-3833-01 COSM271225 c.671A>G p.Y224C Substitution - Missense 7:76482910-76482910 + TCGA-18-3419-01 COSM747076 c.805G>C p.A269P Substitution - Missense 7:76483044-76483044 + T263 COSM1452121 c.693delA p.H232fs*30 Deletion - Frameshift 7:76482932-76482932 + UM-SCC-4 COSM4162456 c.1151G>A p.G384E Substitution - Missense 7:76500441-76500441 + Detroit_562 COSM453404 c.948C>T p.S316S Substitution - coding silent 7:76492192-76492192 + 1_RESISTANT COSM1718705 c.1720G>A p.D574N Substitution - Missense 7:76505452-76505452 + WSU-HN12 COSM4162457 c.1261A>G p.T421A Substitution - Missense 7:76502328-76502328 + 18T COSM106483 c.1797C>T p.P599P Substitution - coding silent 7:76505529-76505529 + TCGA-A1-A0SK-01 COSM453404 c.948C>T p.S316S Substitution - coding silent 7:76492192-76492192 + TCGA-D5-6927-01 COSM1452120 c.520C>T p.R174C Substitution - Missense 7:76482759-76482759 + U373 COSM290462 c.1260C>T p.S420S Substitution - coding silent 7:76502327-76502327 + 33T COSM3715783 c.654G>A p.M218I Substitution - Missense 7:76482893-76482893 + TCGA-BR-8361-01 COSM3028917 c.644G>A p.R215H Substitution - Missense 7:76482883-76482883 + TCGA-81-5911-01 COSM3028932 c.897C>T p.S299S Substitution - coding silent 7:76483136-76483136 + PTC-88C COSM4162456 c.1151G>A p.G384E Substitution - Missense 7:76500441-76500441 + NOKSI COSM4162457 c.1261A>G p.T421A Substitution - Missense 7:76502328-76502328 + TCGA-B5-A0JZ-01 COSM1091835 c.513C>T p.S171S Substitution - coding silent 7:76482752-76482752 + 93VU147T COSM4162457 c.1261A>G p.T421A Substitution - Missense 7:76502328-76502328 + PT31 COSM5906804 c.664C>T p.P222S Substitution - Missense 7:76482903-76482903 + TCGA-D3-A1Q5-06 COSM3640672 c.1059C>T p.S353S Substitution - coding silent 7:76497386-76497386 + TCGA-22-1016-01 COSM747067 c.1702A>G p.S568G Substitution - Missense 7:76505434-76505434 + BD124T COSM5492240 c.437delC p.L148fs*35 Deletion - Frameshift 7:76482676-76482676 + TCGA-AN-A0FS-01 COSM453404 c.948C>T p.S316S Substitution - coding silent 7:76492192-76492192 + ORL-48 COSM300761 c.1093C>T p.R365C Substitution - Missense 7:76497420-76497420 + LUAD-NYU1219 COSM370237 c.1336A>T p.S446C Substitution - Missense 7:76502403-76502403 + TCGA-EE-A3AG-06 COSM3640669 c.507C>T p.C169C Substitution - coding silent 7:76482746-76482746 + OSCC-GB_01120111 COSM4884656 c.803G>A p.G268D Substitution - Missense 7:76483042-76483042 + PASLZM COSM5006327 c.381C>T p.S127S Substitution - coding silent 7:76482620-76482620 + CN-AML-08-T COSM3774300 c.627C>T p.P209P Substitution - coding silent 7:76482866-76482866 + Sample_1 COSM300761 c.1093C>T p.R365C Substitution - Missense 7:76497420-76497420 + TCGA-AM-5820-01 COSM3762838 c.504C>T p.F168F Substitution - coding silent 7:76482743-76482743 + 0084_CRUK_PC_0084_T1_DNA COSM1550183 c.795C>T p.N265N Substitution - coding silent 7:76483034-76483034 + LN229 COSM300761 c.1093C>T p.R365C Substitution - Missense 7:76497420-76497420 + T3225 COSM1452121 c.693delA p.H232fs*30 Deletion - Frameshift 7:76482932-76482932 + UM-SCC-47 COSM4162456 c.1151G>A p.G384E Substitution - Missense 7:76500441-76500441 + 214 COSM4424397 c.252G>A p.Q84Q Substitution - coding silent 7:76480761-76480761 + SCC-9 COSM4162457 c.1261A>G p.T421A Substitution - Missense 7:76502328-76502328 + TCGA-CD-A4MJ-01 COSM3882463 c.1001C>A p.A334E Substitution - Missense 7:76492245-76492245 + YUFOLD COSM1698773 c.1747C>T p.H583Y Substitution - Missense 7:76505479-76505479 + TCGA-B0-5694-01 COSM3774300 c.627C>T p.P209P Substitution - coding silent 7:76482866-76482866 + TCGA-C5-A3HE-01 COSM4827723 c.555C>T p.I185I Substitution - coding silent 7:76482794-76482794 + OSCC-GB_01110111 COSM3721587 c.1266G>A p.A422A Substitution - coding silent 7:76502333-76502333 + OSCC-GB_00330111 COSM3715783 c.654G>A p.M218I Substitution - Missense 7:76482893-76482893 + WSU-HN30 COSM4162456 c.1151G>A p.G384E Substitution - Missense 7:76500441-76500441 + BD93T COSM5514055 c.1860G>A p.E620E Substitution - coding silent 7:76505592-76505592 + UM-SCC-2 COSM4162456 c.1151G>A p.G384E Substitution - Missense 7:76500441-76500441 + TCGA-AY-6197-01 COSM1452122 c.1725C>T p.T575T Substitution - coding silent 7:76505457-76505457 + OSCC-GB_00940111 COSM3721587 c.1266G>A p.A422A Substitution - coding silent 7:76502333-76502333 + TCGA-EE-A2MF-06 COSM4893021 c.321C>T p.G107G Substitution - coding silent 7:76482560-76482560 + TCGA-D1-A15X-01 COSM1091836 c.519G>T p.R173R Substitution - coding silent 7:76482758-76482758 + UM-SCC-2 COSM4162457 c.1261A>G p.T421A Substitution - Missense 7:76502328-76502328 + WSU-HN8 COSM4162457 c.1261A>G p.T421A Substitution - Missense 7:76502328-76502328 + PTC-6C COSM300761 c.1093C>T p.R365C Substitution - Missense 7:76497420-76497420 + T3444 COSM4679616 c.581T>G p.V194G Substitution - Missense 7:76482820-76482820 + TCGA-D1-A167-01 COSM1091837 c.703G>A p.A235T Substitution - Missense 7:76482942-76482942 + T2197 COSM4679614 c.306G>A p.Q102Q Substitution - coding silent 7:76482545-76482545 + Detroit_562 COSM4162457 c.1261A>G p.T421A Substitution - Missense 7:76502328-76502328 + PTC-73C COSM4162454 c.693A>C p.P231P Substitution - coding silent 7:76482932-76482932 + 1_PRE-TREATMENT COSM1718705 c.1720G>A p.D574N Substitution - Missense 7:76505452-76505452 + UM-SCC-11B COSM4162457 c.1261A>G p.T421A Substitution - Missense 7:76502328-76502328 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.187018;Hs.187058 7q11.23 613141 2391487|dbSNP|BC008856|C/T|non-coding||2084|Validated; 2391487|dbSNP|BC018555|C/T|non-coding||2403|Validated; 2391487|dbSNP|BC026059|C/T|non-coding||2084|Validated; 2391487|dbSNP|BC093079|C/T|non-coding||2217|Validated; 2457128|dbSNP|BC018555|A/G|non-coding||410|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.H232Tfs*30 c.693delA 7 76112249 CM A - Frameshift p.H232Tfs*30 c.693delA 7 76112249 PRAD A G Missense p.I42V c.124A>G 7 76109950 GBM A G Missense p.S568G c.1702A>G 7 76134751 LUSC A G Synonymous p.E125E c.375A>G 7 76111931 UCEC C A Missense p.A336E c.1007C>A 7 76121568 LUAD C A Synonymous p.S253S c.759C>A 7 76112315 STAD C G Missense p.L132V c.394C>G 7 76111950 BRCA C T Missense p.P362L c.1085C>T 7 76126729 CM C T Missense p.P513L c.1538C>T 7 76132891 CM C T Missense p.S364F c.1091C>T 7 76126735 BRCA C T Synonymous p.C169C c.507C>T 7 76112063 CM C T Synonymous p.F100F c.300C>T 7 76111856 ESCA C T Synonymous p.G107G c.321C>T 7 76111877 CM C T Synonymous p.L261L c.781C>T 7 76112337 LUAD C T Synonymous p.S171S c.513C>T 7 76112069 UCEC C T Synonymous p.S299S c.897C>T 7 76112453 GBM C T Synonymous p.S353S c.1059C>T 7 76126703 CM C T Synonymous p.S364S c.1092C>T 7 76126736 CM C T Synonymous p.S420S c.1260C>T 7 76131644 COREAD G A Missense p.A20T c.58G>A 7 76109884 BRCA G A Missense p.C196Y c.587G>A 7 76112143 NB G A Missense p.R281H c.842G>A 7 76112398 CM G A Missense p.R354H c.1061G>A 7 76126705 STAD G A Nonsense p.W82* c.246G>A 7 76110072 DLBCL G A Synonymous p.Q25Q c.75G>A 7 76109901 STAD G C Missense p.A269P c.805G>C 7 76112361 LUSC GG AA Missense p.G239K c.715_716delinsAA 7 76112271 CM G T Missense p.A235S c.703G>T 7 76112259 LUAD G T Missense p.D118Y c.352G>T 7 76111908 OV G T Missense p.G212V c.635G>T 7 76112191 BLCA G T Missense p.V10L c.28G>T 7 76109854 HNSC G T Synonymous p.G254G c.762G>T 7 76112318 LUAD G T Synonymous p.T339T c.1017G>T 7 76126661 LUSC G T Synonymous p.V143V c.429G>T 7 76111985 LUAD G T Synonymous p.V182V c.546G>T 7 76112102 CM T C Missense p.F244S c.731T>C 7 76112287 CLL T C Synonymous p.T122T c.366T>C 7 76111922 LUAD