Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 3 127642758 127642758 + Nonsense_Mutation SNP C C A TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 g.chr3:127642758C>A c.854C>A c.(853-855)tCa>tAa p.S285* BLCA 3 127703061 127703061 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr3:127703061G>A c.1812G>A c.(1810-1812)atG>atA p.M604I BRCA 3 127642153 127642153 + Silent SNP G G A TCGA-BH-A42V-01A-11D-A243-09 TCGA-BH-A42V-10A-01D-A243-09 g.chr3:127642153G>A c.249G>A c.(247-249)tcG>tcA p.S83S BRCA 3 127642256 127642257 + Frame_Shift_Ins INS - - GT TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 g.chr3:127642256_127642257insGT c.352_353insGT c.(352-354)agtfs p.S118fs BRCA 3 127642770 127642770 + Nonsense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:127642770C>G c.866C>G c.(865-867)tCa>tGa p.S289* BRCA 3 127649058 127649058 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr3:127649058G>A c.1424G>A c.(1423-1425)cGg>cAg p.R475Q CESC 3 127642675 127642675 + Silent SNP C C T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 g.chr3:127642675C>T c.771C>T c.(769-771)atC>atT p.I257I CESC 3 127642964 127642964 + Missense_Mutation SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 g.chr3:127642964G>C c.1060G>C c.(1060-1062)Gaa>Caa p.E354Q CESC 3 127649050 127649050 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 g.chr3:127649050G>T c.1416G>T c.(1414-1416)tgG>tgT p.W472C CESC 3 127703061 127703061 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr3:127703061G>A c.1812G>A c.(1810-1812)atG>atA p.M604I CHOL 3 127703108 127703108 + Missense_Mutation SNP G G T TCGA-ZH-A8Y5-01A-11D-A417-09 TCGA-ZH-A8Y5-10A-01D-A41A-09 g.chr3:127703108G>T c.1859G>T c.(1858-1860)gGc>gTc p.G620V COAD 3 127641912 127641912 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr3:127641912G>A c.8G>A c.(7-9)tGc>tAc p.C3Y COAD 3 127641968 127641968 + Missense_Mutation SNP C C A TCGA-D5-6923-01A-11D-1924-10 TCGA-D5-6923-10A-01D-1924-10 g.chr3:127641968C>A c.64C>A c.(64-66)Cag>Aag p.Q22K COAD 3 127642002 127642002 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:127642002T>C c.98T>C c.(97-99)gTg>gCg p.V33A COAD 3 127642130 127642130 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr3:127642130G>T c.226G>T c.(226-228)Gac>Tac p.D76Y COAD 3 127642661 127642661 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:127642661G>A c.757G>A c.(757-759)Gca>Aca p.A253T COAD 3 127642852 127642852 + Silent SNP C C T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr3:127642852C>T c.948C>T c.(946-948)taC>taT p.Y316Y COAD 3 127642969 127642969 + Silent SNP T T A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:127642969T>A c.1065T>A c.(1063-1065)atT>atA p.I355I COAD 3 127646783 127646783 + Nonsense_Mutation SNP G G A TCGA-DM-A282-01A-12D-A16V-10 TCGA-DM-A282-10A-01D-A16V-10 g.chr3:127646783G>A c.1247G>A c.(1246-1248)tGg>tAg p.W416* COAD 3 127649072 127649072 + Missense_Mutation SNP T T C TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr3:127649072T>C c.1438T>C c.(1438-1440)Tac>Cac p.Y480H COAD 3 127682184 127682184 + Missense_Mutation SNP G G A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr3:127682184G>A c.1645G>A c.(1645-1647)Gca>Aca p.A549T COAD 3 127703079 127703079 + Frame_Shift_Del DEL C C - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr3:127703079delC c.1830delC c.(1828-1830)atcfs p.I610fs COADREAD 3 127641912 127641912 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr3:127641912G>A c.8G>A c.(7-9)tGc>tAc p.C3Y COADREAD 3 127641968 127641968 + Missense_Mutation SNP C C A TCGA-D5-6923-01A-11D-1924-10 TCGA-D5-6923-10A-01D-1924-10 g.chr3:127641968C>A c.64C>A c.(64-66)Cag>Aag p.Q22K COADREAD 3 127642002 127642002 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:127642002T>C c.98T>C c.(97-99)gTg>gCg p.V33A COADREAD 3 127642130 127642130 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr3:127642130G>T c.226G>T c.(226-228)Gac>Tac p.D76Y COADREAD 3 127642473 127642473 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:127642473G>T c.569G>T c.(568-570)aGa>aTa p.R190I COADREAD 3 127642661 127642661 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:127642661G>A c.757G>A c.(757-759)Gca>Aca p.A253T COADREAD 3 127642852 127642852 + Silent SNP C C T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr3:127642852C>T c.948C>T c.(946-948)taC>taT p.Y316Y COADREAD 3 127642969 127642969 + Silent SNP T T A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:127642969T>A c.1065T>A c.(1063-1065)atT>atA p.I355I COADREAD 3 127646659 127646659 + Nonsense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:127646659C>T c.1123C>T c.(1123-1125)Cga>Tga p.R375* COADREAD 3 127646783 127646783 + Nonsense_Mutation SNP G G A TCGA-DM-A282-01A-12D-A16V-10 TCGA-DM-A282-10A-01D-A16V-10 g.chr3:127646783G>A c.1247G>A c.(1246-1248)tGg>tAg p.W416* COADREAD 3 127649072 127649072 + Missense_Mutation SNP T T C TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr3:127649072T>C c.1438T>C c.(1438-1440)Tac>Cac p.Y480H COADREAD 3 127682184 127682184 + Missense_Mutation SNP G G A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr3:127682184G>A c.1645G>A c.(1645-1647)Gca>Aca p.A549T COADREAD 3 127703079 127703079 + Frame_Shift_Del DEL C C - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr3:127703079delC c.1830delC c.(1828-1830)atcfs p.I610fs ESCA 3 127642564 127642564 + Silent SNP C C T TCGA-L5-A8NN-01A-11D-A37C-09 TCGA-L5-A8NN-11A-11D-A37F-09 g.chr3:127642564C>T c.660C>T c.(658-660)gtC>gtT p.V220V ESCA 3 127642922 127642922 + Missense_Mutation SNP G G A TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 g.chr3:127642922G>A c.1018G>A c.(1018-1020)Gca>Aca p.A340T GBM 3 127682174 127682174 + Silent SNP C C T TCGA-14-0817-01A-01W-0424-08 TCGA-14-0817-10A-01W-0424-08 g.chr3:127682174C>T c.1635C>T c.(1633-1635)acC>acT p.T545T GBMLGG 3 127642601 127642601 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:127642601G>T c.697G>T c.(697-699)Gcc>Tcc p.A233S GBMLGG 3 127642974 127642974 + Splice_Site SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:127642974G>T c.1070G>T c.(1069-1071)aGg>aTg p.R357M GBMLGG 3 127682174 127682174 + Silent SNP C C T TCGA-14-0817-01A-01W-0424-08 TCGA-14-0817-10A-01W-0424-08 g.chr3:127682174C>T c.1635C>T c.(1633-1635)acC>acT p.T545T HNSC 3 127642128 127642128 + Missense_Mutation SNP A A T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 g.chr3:127642128A>T c.224A>T c.(223-225)tAt>tTt p.Y75F HNSC 3 127642211 127642218 + Frame_Shift_Del DEL ACTGTAGC ACTGTAGC - TCGA-H7-A6C5-01A-11D-A30E-08 TCGA-H7-A6C5-10A-01D-A30H-08 g.chr3:127642211_127642218delACTGTAGC c.307_314delACTGTAGC c.(307-315)actgtagctfs p.TVA103fs HNSC 3 127642957 127642957 + Silent SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 g.chr3:127642957G>A c.1053G>A c.(1051-1053)aaG>aaA p.K351K HNSC 3 127646718 127646718 + Missense_Mutation SNP G G A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 g.chr3:127646718G>A c.1182G>A c.(1180-1182)atG>atA p.M394I HNSC 3 127649076 127649076 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 g.chr3:127649076C>G c.1442C>G c.(1441-1443)tCt>tGt p.S481C HNSC 3 127682102 127682102 + Missense_Mutation SNP C C A TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 g.chr3:127682102C>A c.1563C>A c.(1561-1563)aaC>aaA p.N521K HNSC 3 127682161 127682161 + Missense_Mutation SNP G G A TCGA-D6-A6EN-01A-11D-A31L-08 TCGA-D6-A6EN-10A-01D-A31J-08 g.chr3:127682161G>A c.1622G>A c.(1621-1623)cGc>cAc p.R541H HNSC 3 127682212 127682212 + Missense_Mutation SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 g.chr3:127682212G>A c.1673G>A c.(1672-1674)gGg>gAg p.G558E HNSC 3 127703068 127703068 + Nonsense_Mutation SNP C C T TCGA-F7-A623-01A-11D-A28R-08 TCGA-F7-A623-10A-01D-A28U-08 g.chr3:127703068C>T c.1819C>T c.(1819-1821)Cga>Tga p.R607* HNSC 3 127703084 127703084 + Missense_Mutation SNP C C T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 g.chr3:127703084C>T c.1835C>T c.(1834-1836)cCg>cTg p.P612L KIPAN 3 127642834 127642834 + Missense_Mutation SNP C C G TCGA-B0-4836-01A-01D-1373-10 TCGA-B0-4836-11A-01D-1373-10 g.chr3:127642834C>G c.930C>G c.(928-930)ttC>ttG p.F310L KIRC 3 127642834 127642834 + Missense_Mutation SNP C C G TCGA-B0-4836-01A-01D-1373-10 TCGA-B0-4836-11A-01D-1373-10 g.chr3:127642834C>G c.930C>G c.(928-930)ttC>ttG p.F310L LGG 3 127642601 127642601 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:127642601G>T c.697G>T c.(697-699)Gcc>Tcc p.A233S LGG 3 127642974 127642974 + Splice_Site SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:127642974G>T c.1070G>T c.(1069-1071)aGg>aTg p.R357M LIHC 3 127642047 127642047 + Missense_Mutation SNP T T A TCGA-NI-A8LF-01A-11D-A35Z-10 TCGA-NI-A8LF-10A-01D-A35Z-10 g.chr3:127642047T>A c.143T>A c.(142-144)gTc>gAc p.V48D LIHC 3 127642185 127642185 + Missense_Mutation SNP T T C TCGA-ZP-A9CY-01A-11D-A382-10 TCGA-ZP-A9CY-10B-01D-A385-10 g.chr3:127642185T>C c.281T>C c.(280-282)tTg>tCg p.L94S LIHC 3 127642469 127642469 + Missense_Mutation SNP T T A TCGA-ED-A4XI-01A-11D-A25V-10 TCGA-ED-A4XI-10A-01D-A25V-10 g.chr3:127642469T>A c.565T>A c.(565-567)Tcc>Acc p.S189T LIHC 3 127642796 127642796 + Missense_Mutation SNP A A T TCGA-CC-A7IH-01A-11D-A33K-10 TCGA-CC-A7IH-10A-01D-A33K-10 g.chr3:127642796A>T c.892A>T c.(892-894)Agt>Tgt p.S298C LIHC 3 127642837 127642838 + In_Frame_Ins INS - - TCA TCGA-G3-A25V-01A-11D-A16V-10 TCGA-G3-A25V-10A-01D-A16V-10 g.chr3:127642837_127642838insTCA c.933_934insTCA c.(934-936)tca>TCAtca p.312_312S>SS LIHC 3 127642893 127642893 + Frame_Shift_Del DEL A A - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr3:127642893delA c.989delA c.(988-990)gaafs p.E330fs LIHC 3 127646843 127646843 + Missense_Mutation SNP A A G TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr3:127646843A>G c.1307A>G c.(1306-1308)aAt>aGt p.N436S LIHC 3 127702969 127702969 + Silent SNP T T C TCGA-RC-A7SK-01A-11D-A34Z-10 TCGA-RC-A7SK-10A-01D-A34Z-10 g.chr3:127702969T>C c.1720T>C c.(1720-1722)Ttg>Ctg p.L574L LIHC 3 127703119 127703119 + Nonstop_Mutation SNP T T A TCGA-DD-AAC8-01A-11D-A40R-10 TCGA-DD-AAC8-10A-01D-A40U-10 g.chr3:127703119T>A c.1870T>A c.(1870-1872)Taa>Aaa p.*624K LUAD 3 127642718 127642718 + Missense_Mutation SNP G G C TCGA-95-A4VN-01A-11D-A25L-08 TCGA-95-A4VN-10A-01D-A25L-08 g.chr3:127642718G>C c.814G>C c.(814-816)Gag>Cag p.E272Q LUAD 3 127642850 127642850 + Missense_Mutation SNP T T C TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr3:127642850T>C c.946T>C c.(946-948)Tac>Cac p.Y316H LUAD 3 127702968 127702969 + Frame_Shift_Ins INS - - T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr3:127702968_127702969insT c.1719_1720insT c.(1720-1722)ttgfs p.L574fs LUAD 3 127702994 127702994 + Missense_Mutation SNP A A G TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr3:127702994A>G c.1745A>G c.(1744-1746)cAg>cGg p.Q582R LUSC 3 127642514 127642514 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr3:127642514C>T c.610C>T c.(610-612)Cat>Tat p.H204Y LUSC 3 127646667 127646667 + Silent SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr3:127646667C>A c.1131C>A c.(1129-1131)ctC>ctA p.L377L LUSC 3 127648994 127648994 + Missense_Mutation SNP G G A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 g.chr3:127648994G>A c.1360G>A c.(1360-1362)Gaa>Aaa p.E454K LUSC 3 127649097 127649097 + Missense_Mutation SNP C C G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 g.chr3:127649097C>G c.1463C>G c.(1462-1464)gCt>gGt p.A488G OV 3 127682210 127682210 + Silent SNP C C T TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 g.chr3:127682210C>T c.1671C>T c.(1669-1671)tgC>tgT p.C557C PAAD 3 127646814 127646814 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:127646814G>A c.1278G>A c.(1276-1278)ttG>ttA p.L426L PCPG 3 127646684 127646684 + Missense_Mutation SNP T T C TCGA-P7-A5NY-01A-12D-A35D-08 TCGA-P7-A5NY-10A-01D-A35B-08 g.chr3:127646684T>C c.1148T>C c.(1147-1149)aTt>aCt p.I383T PRAD 3 127642852 127642852 + Silent SNP C C T TCGA-EJ-7781-01A-11D-2114-08 TCGA-EJ-7781-10A-01D-2114-08 g.chr3:127642852C>T c.948C>T c.(946-948)taC>taT p.Y316Y PRAD 3 127646682 127646682 + Silent SNP T T C TCGA-HC-A6AQ-01A-11D-A30E-08 TCGA-HC-A6AQ-10A-01D-A30H-08 g.chr3:127646682T>C c.1146T>C c.(1144-1146)agT>agC p.S382S PRAD 3 127648992 127648992 + Frame_Shift_Del DEL A A - TCGA-ZG-A9L1-01A-11D-A41K-08 TCGA-ZG-A9L1-10A-01D-A41N-08 g.chr3:127648992delA c.1358delA c.(1357-1359)gaafs p.E454fs PRAD 3 127682079 127682079 + Missense_Mutation SNP C C A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:127682079C>A c.1540C>A c.(1540-1542)Ctt>Att p.L514I READ 3 127642473 127642473 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:127642473G>T c.569G>T c.(568-570)aGa>aTa p.R190I READ 3 127646659 127646659 + Nonsense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:127646659C>T c.1123C>T c.(1123-1125)Cga>Tga p.R375* SARC 3 127642187 127642187 + Missense_Mutation SNP G G C TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 g.chr3:127642187G>C c.283G>C c.(283-285)Gag>Cag p.E95Q SARC 3 127642390 127642390 + Missense_Mutation SNP G G T TCGA-DX-AB2T-01A-11D-A387-09 TCGA-DX-AB2T-10A-01D-A38A-09 g.chr3:127642390G>T c.486G>T c.(484-486)gaG>gaT p.E162D SARC 3 127642470 127642470 + Missense_Mutation SNP C C T TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr3:127642470C>T c.566C>T c.(565-567)tCc>tTc p.S189F SKCM 3 127642031 127642031 + Missense_Mutation SNP C C T TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr3:127642031C>T c.127C>T c.(127-129)Cct>Tct p.P43S SKCM 3 127642053 127642053 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:127642053C>T c.149C>T c.(148-150)gCt>gTt p.A50V SKCM 3 127642062 127642062 + Missense_Mutation SNP G G T TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 g.chr3:127642062G>T c.158G>T c.(157-159)aGc>aTc p.S53I SKCM 3 127642489 127642489 + Silent SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr3:127642489G>A c.585G>A c.(583-585)ctG>ctA p.L195L SKCM 3 127642587 127642587 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr3:127642587C>T c.683C>T c.(682-684)tCt>tTt p.S228F SKCM 3 127642655 127642655 + Nonsense_Mutation SNP C C T TCGA-EE-A2MM-06A-11D-A196-08 TCGA-EE-A2MM-10A-01D-A198-08 g.chr3:127642655C>T c.751C>T c.(751-753)Caa>Taa p.Q251* SKCM 3 127642780 127642780 + Silent SNP G G A TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr3:127642780G>A c.876G>A c.(874-876)agG>agA p.R292R SKCM 3 127642822 127642822 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr3:127642822G>A c.918G>A c.(916-918)cgG>cgA p.R306R SKCM 3 127642829 127642829 + Missense_Mutation SNP T T C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr3:127642829T>C c.925T>C c.(925-927)Tat>Cat p.Y309H SKCM 3 127642844 127642844 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr3:127642844C>T c.940C>T c.(940-942)Ccc>Tcc p.P314S SKCM 3 127642866 127642866 + Missense_Mutation SNP G G A TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr3:127642866G>A c.962G>A c.(961-963)gGa>gAa p.G321E SKCM 3 127646621 127646621 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:127646621G>A c.1085G>A c.(1084-1086)gGa>gAa p.G362E SKCM 3 127646676 127646676 + Silent SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr3:127646676G>A c.1140G>A c.(1138-1140)ctG>ctA p.L380L SKCM 3 127646784 127646784 + Nonsense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr3:127646784G>A c.1248G>A c.(1246-1248)tgG>tgA p.W416* SKCM 3 127646797 127646797 + Missense_Mutation SNP C C T TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr3:127646797C>T c.1261C>T c.(1261-1263)Ccc>Tcc p.P421S SKCM 3 127682071 127682071 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr3:127682071G>A c.1532G>A c.(1531-1533)cGa>cAa p.R511Q SKCM 3 127682078 127682078 + Frame_Shift_Del DEL C C - TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 g.chr3:127682078delC c.1539delC c.(1537-1539)tgcfs p.C513fs SKCM 3 127682111 127682111 + Silent SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr3:127682111G>A c.1572G>A c.(1570-1572)ggG>ggA p.G524G SKCM 3 127702959 127702959 + Silent SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr3:127702959C>T c.1710C>T c.(1708-1710)tcC>tcT p.S570S SKCM 3 127702981 127702981 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr3:127702981C>T c.1732C>T c.(1732-1734)Cca>Tca p.P578S SKCM 3 127703092 127703092 + Missense_Mutation SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr3:127703092G>A c.1843G>A c.(1843-1845)Gat>Aat p.D615N

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 3 127642041 127642041 single base substitution G A exon_variant BLCA-CN 3 127642041 127642041 single base substitution G A intron_variant BLCA-CN 3 127642041 127642041 single base substitution G A missense_variant R46K 137G>A BLCA-CN 3 127642041 127642041 single base substitution G A upstream_gene_variant BOCA-FR 3 127708709 127708709 single base substitution G A downstream_gene_variant BRCA-EU 3 127629192 127629192 single base substitution G T upstream_gene_variant BRCA-EU 3 127629193 127629193 single base substitution C T upstream_gene_variant BRCA-EU 3 127630511 127630511 single base substitution A T upstream_gene_variant BRCA-EU 3 127630572 127630572 single base substitution G A upstream_gene_variant BRCA-EU 3 127630859 127630859 single base substitution A G upstream_gene_variant BRCA-EU 3 127631649 127631649 single base substitution A G upstream_gene_variant BRCA-EU 3 127632323 127632323 single base substitution C T upstream_gene_variant BRCA-EU 3 127632657 127632657 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 127635245 127635245 single base substitution G A intron_variant BRCA-EU 3 127636837 127636837 single base substitution G C intron_variant BRCA-EU 3 127638475 127638475 single base substitution G C intron_variant BRCA-EU 3 127638475 127638475 single base substitution G C upstream_gene_variant BRCA-EU 3 127639288 127639288 single base substitution A G intron_variant BRCA-EU 3 127639288 127639288 single base substitution A G upstream_gene_variant BRCA-EU 3 127640142 127640142 single base substitution G A intron_variant BRCA-EU 3 127640142 127640142 single base substitution G A upstream_gene_variant BRCA-EU 3 127640389 127640389 single base substitution G C intron_variant BRCA-EU 3 127640389 127640389 single base substitution G C upstream_gene_variant BRCA-EU 3 127641359 127641359 single base substitution C T intron_variant BRCA-EU 3 127641359 127641359 single base substitution C T upstream_gene_variant BRCA-EU 3 127641402 127641402 single base substitution A G intron_variant BRCA-EU 3 127641402 127641402 single base substitution A G upstream_gene_variant BRCA-EU 3 127641510 127641510 single base substitution G A intron_variant BRCA-EU 3 127641510 127641510 single base substitution G A upstream_gene_variant BRCA-EU 3 127641998 127641998 single base substitution G A exon_variant BRCA-EU 3 127641998 127641998 single base substitution G A intron_variant BRCA-EU 3 127641998 127641998 single base substitution G A missense_variant D32N 94G>A BRCA-EU 3 127641998 127641998 single base substitution G A upstream_gene_variant BRCA-EU 3 127642393 127642393 single base substitution G A exon_variant BRCA-EU 3 127642393 127642393 single base substitution G A intron_variant BRCA-EU 3 127642393 127642393 single base substitution G A synonymous_variant V163V 489G>A BRCA-EU 3 127642393 127642393 single base substitution G A upstream_gene_variant BRCA-EU 3 127643561 127643561 deletion of <=200bp T - intron_variant BRCA-EU 3 127645477 127645478 deletion of <=200bp AA - intron_variant BRCA-EU 3 127645653 127645653 single base substitution T G intron_variant BRCA-EU 3 127645654 127645654 insertion of <=200bp - TG intron_variant BRCA-EU 3 127647478 127647478 single base substitution C G downstream_gene_variant BRCA-EU 3 127647478 127647478 single base substitution C G intron_variant BRCA-EU 3 127648229 127648229 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 127648229 127648229 deletion of <=200bp A - intron_variant BRCA-EU 3 127651986 127651986 single base substitution G C intron_variant BRCA-EU 3 127652574 127652574 single base substitution G A intron_variant BRCA-EU 3 127652769 127652769 single base substitution G A intron_variant BRCA-EU 3 127655082 127655082 single base substitution G A intron_variant BRCA-EU 3 127656201 127656201 single base substitution T A intron_variant BRCA-EU 3 127656464 127656464 single base substitution A C intron_variant BRCA-EU 3 127656761 127656761 single base substitution G T intron_variant BRCA-EU 3 127656926 127656926 single base substitution T C intron_variant BRCA-EU 3 127657220 127657220 single base substitution G C intron_variant BRCA-EU 3 127657472 127657472 single base substitution A T intron_variant BRCA-EU 3 127658058 127658058 single base substitution C G intron_variant BRCA-EU 3 127658118 127658118 single base substitution C G intron_variant BRCA-EU 3 127658368 127658368 single base substitution C G intron_variant BRCA-EU 3 127658528 127658528 single base substitution C T intron_variant BRCA-EU 3 127658704 127658704 single base substitution G T intron_variant BRCA-EU 3 127659025 127659025 single base substitution C T intron_variant BRCA-EU 3 127659091 127659091 single base substitution G A intron_variant BRCA-EU 3 127659583 127659583 deletion of <=200bp A - intron_variant BRCA-EU 3 127661122 127661122 single base substitution A C intron_variant BRCA-EU 3 127662231 127662231 single base substitution C G intron_variant BRCA-EU 3 127662990 127662990 single base substitution G C intron_variant BRCA-EU 3 127665706 127665706 single base substitution C G intron_variant BRCA-EU 3 127666891 127666891 single base substitution T G intron_variant BRCA-EU 3 127667254 127667254 single base substitution C T intron_variant BRCA-EU 3 127668549 127668549 single base substitution C T intron_variant BRCA-EU 3 127668559 127668559 single base substitution T G intron_variant BRCA-EU 3 127669076 127669076 single base substitution A C intron_variant BRCA-EU 3 127670105 127670105 single base substitution G T intron_variant BRCA-EU 3 127670684 127670684 single base substitution G A intron_variant BRCA-EU 3 127672146 127672146 single base substitution G C intron_variant BRCA-EU 3 127675268 127675268 single base substitution C G intron_variant BRCA-EU 3 127676820 127676820 single base substitution G C intron_variant BRCA-EU 3 127677200 127677200 single base substitution G A intron_variant BRCA-EU 3 127678116 127678116 single base substitution T C intron_variant BRCA-EU 3 127678686 127678686 single base substitution G T intron_variant BRCA-EU 3 127679290 127679290 single base substitution T G intron_variant BRCA-EU 3 127679929 127679929 single base substitution A G intron_variant BRCA-EU 3 127680309 127680309 single base substitution G C intron_variant BRCA-EU 3 127680945 127680945 single base substitution G T intron_variant BRCA-EU 3 127682604 127682604 single base substitution G C intron_variant BRCA-EU 3 127683740 127683740 single base substitution G A intron_variant BRCA-EU 3 127685227 127685227 deletion of <=200bp G - intron_variant BRCA-EU 3 127686627 127686627 single base substitution G C intron_variant BRCA-EU 3 127687045 127687045 single base substitution A G intron_variant BRCA-EU 3 127687231 127687231 single base substitution G A intron_variant BRCA-EU 3 127690045 127690045 single base substitution G C intron_variant BRCA-EU 3 127692130 127692130 single base substitution C G intron_variant BRCA-EU 3 127694874 127694874 single base substitution T A intron_variant BRCA-EU 3 127695219 127695219 deletion of <=200bp T - intron_variant BRCA-EU 3 127695456 127695456 single base substitution T C intron_variant BRCA-EU 3 127695514 127695514 single base substitution G A intron_variant BRCA-EU 3 127696636 127696636 single base substitution G C intron_variant BRCA-EU 3 127697734 127697734 single base substitution G A intron_variant BRCA-EU 3 127699384 127699384 single base substitution G A intron_variant BRCA-EU 3 127703620 127703620 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 127703620 127703620 single base substitution G A downstream_gene_variant BRCA-EU 3 127705581 127705581 single base substitution C T 3_prime_UTR_variant BRCA-EU 3 127705581 127705581 single base substitution C T downstream_gene_variant BRCA-EU 3 127707212 127707212 single base substitution G C downstream_gene_variant BRCA-EU 3 127707313 127707313 single base substitution C T downstream_gene_variant BRCA-EU 3 127709275 127709275 single base substitution G A downstream_gene_variant BRCA-EU 3 127711358 127711358 single base substitution C T downstream_gene_variant BRCA-FR 3 127652574 127652574 single base substitution G A intron_variant BRCA-FR 3 127655082 127655082 single base substitution G A intron_variant BRCA-FR 3 127658058 127658058 single base substitution C G intron_variant BRCA-FR 3 127667254 127667254 single base substitution C T intron_variant BRCA-FR 3 127670684 127670684 single base substitution G A intron_variant BRCA-FR 3 127672898 127672898 single base substitution C A intron_variant BRCA-FR 3 127678686 127678686 single base substitution G T intron_variant BRCA-FR 3 127690045 127690045 single base substitution G C intron_variant BRCA-FR 3 127690354 127690354 single base substitution G T intron_variant BRCA-FR 3 127699384 127699384 single base substitution G A intron_variant BRCA-FR 3 127711358 127711358 single base substitution C T downstream_gene_variant BRCA-UK 3 127653576 127653576 single base substitution G C intron_variant BRCA-UK 3 127662231 127662231 single base substitution C G intron_variant BRCA-UK 3 127669076 127669076 single base substitution A C intron_variant BRCA-UK 3 127679440 127679440 single base substitution G C intron_variant BRCA-UK 3 127695514 127695514 single base substitution G A intron_variant BRCA-US 3 127642153 127642153 single base substitution G A exon_variant BRCA-US 3 127642153 127642153 single base substitution G A intron_variant BRCA-US 3 127642153 127642153 single base substitution G A synonymous_variant S83S 249G>A BRCA-US 3 127642153 127642153 single base substitution G A upstream_gene_variant BRCA-US 3 127642256 127642256 insertion of <=200bp - GT 5_prime_UTR_variant BRCA-US 3 127642256 127642256 insertion of <=200bp - GT exon_variant BRCA-US 3 127642256 127642256 insertion of <=200bp - GT frameshift_variant S118V? BRCA-US 3 127642256 127642256 insertion of <=200bp - GT intron_variant BRCA-US 3 127642256 127642256 insertion of <=200bp - GT upstream_gene_variant BRCA-US 3 127642770 127642770 single base substitution C G exon_variant BRCA-US 3 127642770 127642770 single base substitution C G intron_variant BRCA-US 3 127642770 127642770 single base substitution C G stop_gained S289* 866C>G BRCA-US 3 127642770 127642770 single base substitution C G upstream_gene_variant BRCA-US 3 127649058 127649058 single base substitution G A downstream_gene_variant BRCA-US 3 127649058 127649058 single base substitution G A exon_variant BRCA-US 3 127649058 127649058 single base substitution G A intron_variant BRCA-US 3 127649058 127649058 single base substitution G A missense_variant R475Q 1424G>A BRCA-US 3 127649058 127649058 single base substitution G A missense_variant R50Q 149G>A BRCA-US 3 127649058 127649058 single base substitution G A missense_variant R82Q 245G>A BRCA-US 3 127649120 127649120 single base substitution G A downstream_gene_variant BRCA-US 3 127649120 127649120 single base substitution G A exon_variant BRCA-US 3 127649120 127649120 single base substitution G A intron_variant BRCA-US 3 127649120 127649120 single base substitution G A missense_variant V103I 307G>A BRCA-US 3 127649120 127649120 single base substitution G A missense_variant V496I 1486G>A BRCA-US 3 127649120 127649120 single base substitution G A missense_variant V71I 211G>A BRCA-US 3 127649123 127649123 single base substitution T C downstream_gene_variant BRCA-US 3 127649123 127649123 single base substitution T C exon_variant BRCA-US 3 127649123 127649123 single base substitution T C intron_variant BRCA-US 3 127649123 127649123 single base substitution T C synonymous_variant L104L 310T>C BRCA-US 3 127649123 127649123 single base substitution T C synonymous_variant L497L 1489T>C BRCA-US 3 127649123 127649123 single base substitution T C synonymous_variant L72L 214T>C BTCA-JP 3 127646662 127646662 single base substitution G A 5_prime_UTR_variant BTCA-JP 3 127646662 127646662 single base substitution G A exon_variant BTCA-JP 3 127646662 127646662 single base substitution G A intron_variant BTCA-JP 3 127646662 127646662 single base substitution G A missense_variant E376K 1126G>A BTCA-JP 3 127646662 127646662 single base substitution G A synonymous_variant E17E 51G>A BTCA-JP 3 127703061 127703061 single base substitution G A exon_variant BTCA-JP 3 127703061 127703061 single base substitution G A missense_variant M179I 537G>A BTCA-JP 3 127703061 127703061 single base substitution G A missense_variant M211I 633G>A BTCA-JP 3 127703061 127703061 single base substitution G A missense_variant M604I 1812G>A BTCA-JP 3 127703085 127703085 single base substitution G A exon_variant BTCA-JP 3 127703085 127703085 single base substitution G A synonymous_variant P187P 561G>A BTCA-JP 3 127703085 127703085 single base substitution G A synonymous_variant P219P 657G>A BTCA-JP 3 127703085 127703085 single base substitution G A synonymous_variant P612P 1836G>A CESC-US 3 127642675 127642675 single base substitution C T exon_variant CESC-US 3 127642675 127642675 single base substitution C T intron_variant CESC-US 3 127642675 127642675 single base substitution C T synonymous_variant I257I 771C>T CESC-US 3 127642675 127642675 single base substitution C T upstream_gene_variant CESC-US 3 127642964 127642964 single base substitution G C exon_variant CESC-US 3 127642964 127642964 single base substitution G C intron_variant CESC-US 3 127642964 127642964 single base substitution G C missense_variant E354Q 1060G>C CESC-US 3 127649050 127649050 single base substitution G T downstream_gene_variant CESC-US 3 127649050 127649050 single base substitution G T exon_variant CESC-US 3 127649050 127649050 single base substitution G T intron_variant CESC-US 3 127649050 127649050 single base substitution G T missense_variant W472C 1416G>T CESC-US 3 127649050 127649050 single base substitution G T missense_variant W47C 141G>T CESC-US 3 127649050 127649050 single base substitution G T missense_variant W79C 237G>T CESC-US 3 127703061 127703061 single base substitution G A exon_variant CESC-US 3 127703061 127703061 single base substitution G A missense_variant M179I 537G>A CESC-US 3 127703061 127703061 single base substitution G A missense_variant M211I 633G>A CESC-US 3 127703061 127703061 single base substitution G A missense_variant M604I 1812G>A CESC-US 3 127703143 127703143 single base substitution C T 3_prime_UTR_variant CESC-US 3 127703143 127703143 single base substitution C T downstream_gene_variant CESC-US 3 127703143 127703143 single base substitution C T exon_variant CLLE-ES 3 127637158 127637158 single base substitution G A intron_variant CLLE-ES 3 127637158 127637158 single base substitution G A upstream_gene_variant CLLE-ES 3 127644572 127644572 single base substitution A G intron_variant CLLE-ES 3 127655065 127655065 single base substitution C T intron_variant CLLE-ES 3 127661984 127661984 single base substitution C A intron_variant CLLE-ES 3 127673406 127673406 single base substitution G A intron_variant CLLE-ES 3 127696599 127696599 single base substitution C G intron_variant COAD-US 3 127641968 127641968 single base substitution C A exon_variant COAD-US 3 127641968 127641968 single base substitution C A intron_variant COAD-US 3 127641968 127641968 single base substitution C A missense_variant Q22K 64C>A COAD-US 3 127641968 127641968 single base substitution C A upstream_gene_variant COAD-US 3 127642130 127642130 single base substitution G T exon_variant COAD-US 3 127642130 127642130 single base substitution G T intron_variant COAD-US 3 127642130 127642130 single base substitution G T missense_variant D76Y 226G>T COAD-US 3 127642130 127642130 single base substitution G T upstream_gene_variant COAD-US 3 127642814 127642814 single base substitution G C exon_variant COAD-US 3 127642814 127642814 single base substitution G C intron_variant COAD-US 3 127642814 127642814 single base substitution G C missense_variant V304L 910G>C COAD-US 3 127642814 127642814 single base substitution G C upstream_gene_variant COAD-US 3 127682184 127682184 single base substitution G A exon_variant COAD-US 3 127682184 127682184 single base substitution G A missense_variant A124T 370G>A COAD-US 3 127682184 127682184 single base substitution G A missense_variant A156T 466G>A COAD-US 3 127682184 127682184 single base substitution G A missense_variant A549T 1645G>A COAD-US 3 127703079 127703079 deletion of <=200bp C - exon_variant COAD-US 3 127703079 127703079 deletion of <=200bp C - frameshift_variant I185 COAD-US 3 127703079 127703079 deletion of <=200bp C - frameshift_variant I217 COAD-US 3 127703079 127703079 deletion of <=200bp C - frameshift_variant I610 COCA-CN 3 127642152 127642152 single base substitution C T exon_variant COCA-CN 3 127642152 127642152 single base substitution C T intron_variant COCA-CN 3 127642152 127642152 single base substitution C T missense_variant S83L 248C>T COCA-CN 3 127642152 127642152 single base substitution C T upstream_gene_variant COCA-CN 3 127642533 127642533 single base substitution C T exon_variant COCA-CN 3 127642533 127642533 single base substitution C T intron_variant COCA-CN 3 127642533 127642533 single base substitution C T missense_variant T210I 629C>T COCA-CN 3 127642533 127642533 single base substitution C T upstream_gene_variant COCA-CN 3 127646793 127646793 single base substitution G A exon_variant COCA-CN 3 127646793 127646793 single base substitution G A intron_variant COCA-CN 3 127646793 127646793 single base substitution G A synonymous_variant V26V 78G>A COCA-CN 3 127646793 127646793 single base substitution G A synonymous_variant V419V 1257G>A EOPC-DE 3 127663991 127663991 single base substitution T A intron_variant EOPC-DE 3 127697957 127697957 single base substitution A G intron_variant ESAD-UK 3 127629257 127629257 single base substitution A T upstream_gene_variant ESAD-UK 3 127630511 127630511 single base substitution A T upstream_gene_variant ESAD-UK 3 127631507 127631507 single base substitution G A upstream_gene_variant ESAD-UK 3 127632292 127632292 single base substitution G A upstream_gene_variant ESAD-UK 3 127632293 127632293 single base substitution G T upstream_gene_variant ESAD-UK 3 127632957 127632957 single base substitution A G upstream_gene_variant ESAD-UK 3 127635377 127635377 single base substitution C T intron_variant ESAD-UK 3 127636976 127636976 single base substitution C A intron_variant ESAD-UK 3 127636976 127636976 single base substitution C A upstream_gene_variant ESAD-UK 3 127637042 127637042 single base substitution C A intron_variant ESAD-UK 3 127637042 127637042 single base substitution C A upstream_gene_variant ESAD-UK 3 127638629 127638629 insertion of <=200bp - AT intron_variant ESAD-UK 3 127638629 127638629 insertion of <=200bp - AT upstream_gene_variant ESAD-UK 3 127644670 127644670 single base substitution A C intron_variant ESAD-UK 3 127644806 127644806 single base substitution T C intron_variant ESAD-UK 3 127645127 127645127 single base substitution C T intron_variant ESAD-UK 3 127648778 127648778 single base substitution A G downstream_gene_variant ESAD-UK 3 127648778 127648778 single base substitution A G intron_variant ESAD-UK 3 127649355 127649355 single base substitution C T downstream_gene_variant ESAD-UK 3 127649355 127649355 single base substitution C T intron_variant ESAD-UK 3 127649883 127649883 single base substitution G A downstream_gene_variant ESAD-UK 3 127649883 127649883 single base substitution G A intron_variant ESAD-UK 3 127652107 127652107 single base substitution A G intron_variant ESAD-UK 3 127659023 127659023 single base substitution C T intron_variant ESAD-UK 3 127659253 127659260 deletion of <=200bp ACATAAGG - intron_variant ESAD-UK 3 127659555 127659555 single base substitution G A intron_variant ESAD-UK 3 127660291 127660291 deletion of <=200bp A - intron_variant ESAD-UK 3 127661480 127661491 deletion of <=200bp TATATATAACTA - intron_variant ESAD-UK 3 127662707 127662707 single base substitution A G intron_variant ESAD-UK 3 127662953 127662953 single base substitution G A intron_variant ESAD-UK 3 127666276 127666276 single base substitution G A intron_variant ESAD-UK 3 127667152 127667152 single base substitution G T intron_variant ESAD-UK 3 127668517 127668517 single base substitution C T intron_variant ESAD-UK 3 127669297 127669297 single base substitution G T intron_variant ESAD-UK 3 127676247 127676247 single base substitution G A intron_variant ESAD-UK 3 127676525 127676525 single base substitution C A intron_variant ESAD-UK 3 127676579 127676579 single base substitution C T intron_variant ESAD-UK 3 127677088 127677088 single base substitution C T intron_variant ESAD-UK 3 127677955 127677955 single base substitution A G intron_variant ESAD-UK 3 127685892 127685892 single base substitution T A intron_variant ESAD-UK 3 127687715 127687715 insertion of <=200bp - A intron_variant ESAD-UK 3 127687788 127687788 single base substitution G A intron_variant ESAD-UK 3 127688266 127688266 single base substitution C T intron_variant ESAD-UK 3 127689333 127689333 single base substitution G A intron_variant ESAD-UK 3 127691424 127691424 single base substitution G A intron_variant ESAD-UK 3 127691476 127691476 single base substitution T C intron_variant ESAD-UK 3 127694023 127694023 single base substitution G C intron_variant ESAD-UK 3 127694243 127694243 single base substitution G A intron_variant ESAD-UK 3 127695209 127695209 single base substitution C T intron_variant ESAD-UK 3 127695389 127695389 single base substitution C T intron_variant ESAD-UK 3 127697906 127697906 single base substitution G A intron_variant ESAD-UK 3 127699169 127699169 single base substitution A T intron_variant ESAD-UK 3 127701339 127701339 single base substitution C A intron_variant ESAD-UK 3 127701576 127701576 single base substitution G A intron_variant ESAD-UK 3 127703016 127703016 single base substitution C T exon_variant ESAD-UK 3 127703016 127703016 single base substitution C T synonymous_variant N164N 492C>T ESAD-UK 3 127703016 127703016 single base substitution C T synonymous_variant N196N 588C>T ESAD-UK 3 127703016 127703016 single base substitution C T synonymous_variant N589N 1767C>T ESAD-UK 3 127703321 127703321 single base substitution A C 3_prime_UTR_variant ESAD-UK 3 127703321 127703321 single base substitution A C downstream_gene_variant ESAD-UK 3 127703575 127703575 single base substitution T C 3_prime_UTR_variant ESAD-UK 3 127703575 127703575 single base substitution T C downstream_gene_variant ESAD-UK 3 127704122 127704122 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 127704122 127704122 single base substitution C T downstream_gene_variant ESAD-UK 3 127705273 127705273 single base substitution A G 3_prime_UTR_variant ESAD-UK 3 127705273 127705273 single base substitution A G downstream_gene_variant ESAD-UK 3 127706153 127706153 single base substitution G T 3_prime_UTR_variant ESAD-UK 3 127706153 127706153 single base substitution G T downstream_gene_variant ESAD-UK 3 127708482 127708482 insertion of <=200bp - AT downstream_gene_variant ESAD-UK 3 127710719 127710719 single base substitution C G downstream_gene_variant GBM-US 3 127682174 127682174 single base substitution C T exon_variant GBM-US 3 127682174 127682174 single base substitution C T synonymous_variant T120T 360C>T GBM-US 3 127682174 127682174 single base substitution C T synonymous_variant T152T 456C>T GBM-US 3 127682174 127682174 single base substitution C T synonymous_variant T545T 1635C>T KIRC-US 3 127642834 127642834 single base substitution C G exon_variant KIRC-US 3 127642834 127642834 single base substitution C G intron_variant KIRC-US 3 127642834 127642834 single base substitution C G missense_variant F310L 930C>G KIRC-US 3 127642834 127642834 single base substitution C G upstream_gene_variant LAML-KR 3 127634688 127634688 single base substitution T C intron_variant LAML-KR 3 127641968 127641968 single base substitution C A exon_variant LAML-KR 3 127641968 127641968 single base substitution C A intron_variant LAML-KR 3 127641968 127641968 single base substitution C A missense_variant Q22K 64C>A LAML-KR 3 127641968 127641968 single base substitution C A upstream_gene_variant LAML-KR 3 127647044 127647044 single base substitution T C downstream_gene_variant LAML-KR 3 127647044 127647044 single base substitution T C intron_variant LAML-KR 3 127703085 127703085 single base substitution G A exon_variant LAML-KR 3 127703085 127703085 single base substitution G A synonymous_variant P187P 561G>A LAML-KR 3 127703085 127703085 single base substitution G A synonymous_variant P219P 657G>A LAML-KR 3 127703085 127703085 single base substitution G A synonymous_variant P612P 1836G>A LICA-FR 3 127638612 127638612 single base substitution T C intron_variant LICA-FR 3 127638612 127638612 single base substitution T C upstream_gene_variant LICA-FR 3 127641994 127641994 single base substitution G C exon_variant LICA-FR 3 127641994 127641994 single base substitution G C intron_variant LICA-FR 3 127641994 127641994 single base substitution G C missense_variant M30I 90G>C LICA-FR 3 127641994 127641994 single base substitution G C upstream_gene_variant LICA-FR 3 127654897 127654897 single base substitution C G intron_variant LICA-FR 3 127686570 127686570 single base substitution T C intron_variant LIHC-US 3 127642469 127642469 single base substitution T A exon_variant LIHC-US 3 127642469 127642469 single base substitution T A intron_variant LIHC-US 3 127642469 127642469 single base substitution T A missense_variant S189T 565T>A LIHC-US 3 127642469 127642469 single base substitution T A upstream_gene_variant LIHC-US 3 127642796 127642796 single base substitution A T exon_variant LIHC-US 3 127642796 127642796 single base substitution A T intron_variant LIHC-US 3 127642796 127642796 single base substitution A T missense_variant S298C 892A>T LIHC-US 3 127642796 127642796 single base substitution A T upstream_gene_variant LIHC-US 3 127642837 127642837 insertion of <=200bp - TCA disruptive_inframe_insertion I311IH LIHC-US 3 127642837 127642837 insertion of <=200bp - TCA exon_variant LIHC-US 3 127642837 127642837 insertion of <=200bp - TCA intron_variant LIHC-US 3 127642837 127642837 insertion of <=200bp - TCA upstream_gene_variant LIHC-US 3 127682104 127682104 single base substitution C A exon_variant LIHC-US 3 127682104 127682104 single base substitution C A missense_variant P129Q 386C>A LIHC-US 3 127682104 127682104 single base substitution C A missense_variant P522Q 1565C>A LIHC-US 3 127682104 127682104 single base substitution C A missense_variant P97Q 290C>A LIHC-US 3 127702969 127702969 single base substitution T C exon_variant LIHC-US 3 127702969 127702969 single base substitution T C synonymous_variant L149L 445T>C LIHC-US 3 127702969 127702969 single base substitution T C synonymous_variant L181L 541T>C LIHC-US 3 127702969 127702969 single base substitution T C synonymous_variant L574L 1720T>C LINC-JP 3 127646800 127646800 single base substitution C T exon_variant LINC-JP 3 127646800 127646800 single base substitution C T intron_variant LINC-JP 3 127646800 127646800 single base substitution C T missense_variant L29F 85C>T LINC-JP 3 127646800 127646800 single base substitution C T missense_variant L422F 1264C>T LINC-JP 3 127648283 127648283 single base substitution A G downstream_gene_variant LINC-JP 3 127648283 127648283 single base substitution A G intron_variant LINC-JP 3 127670900 127670900 single base substitution G C intron_variant LINC-JP 3 127682146 127682146 single base substitution C T exon_variant LINC-JP 3 127682146 127682146 single base substitution C T missense_variant P111L 332C>T LINC-JP 3 127682146 127682146 single base substitution C T missense_variant P143L 428C>T LINC-JP 3 127682146 127682146 single base substitution C T missense_variant P536L 1607C>T LIRI-JP 3 127629205 127629205 single base substitution G A upstream_gene_variant LIRI-JP 3 127630524 127630524 single base substitution C G upstream_gene_variant LIRI-JP 3 127631284 127631284 single base substitution A G upstream_gene_variant LIRI-JP 3 127632145 127632145 single base substitution G A upstream_gene_variant LIRI-JP 3 127633498 127633498 single base substitution C T upstream_gene_variant LIRI-JP 3 127633580 127633580 deletion of <=200bp G - upstream_gene_variant LIRI-JP 3 127634044 127634044 single base substitution G A upstream_gene_variant LIRI-JP 3 127634261 127634261 single base substitution C T 5_prime_UTR_variant LIRI-JP 3 127634261 127634261 single base substitution C T upstream_gene_variant LIRI-JP 3 127635353 127635353 single base substitution A G intron_variant LIRI-JP 3 127636911 127636911 single base substitution G A intron_variant LIRI-JP 3 127636911 127636911 single base substitution G A upstream_gene_variant LIRI-JP 3 127637318 127637318 single base substitution G A intron_variant LIRI-JP 3 127637318 127637318 single base substitution G A upstream_gene_variant LIRI-JP 3 127639754 127639754 single base substitution A G intron_variant LIRI-JP 3 127639754 127639754 single base substitution A G upstream_gene_variant LIRI-JP 3 127640094 127640094 single base substitution A G intron_variant LIRI-JP 3 127640094 127640094 single base substitution A G upstream_gene_variant LIRI-JP 3 127641014 127641014 single base substitution T C intron_variant LIRI-JP 3 127641014 127641014 single base substitution T C upstream_gene_variant LIRI-JP 3 127643783 127643783 single base substitution G A intron_variant LIRI-JP 3 127644311 127644311 single base substitution T G intron_variant LIRI-JP 3 127644904 127644904 single base substitution C G intron_variant LIRI-JP 3 127646634 127646634 single base substitution G A 5_prime_UTR_variant LIRI-JP 3 127646634 127646634 single base substitution G A exon_variant LIRI-JP 3 127646634 127646634 single base substitution G A intron_variant LIRI-JP 3 127646634 127646634 single base substitution G A missense_variant G8E 23G>A LIRI-JP 3 127646634 127646634 single base substitution G A stop_gained W366* 1098G>A LIRI-JP 3 127651897 127651897 single base substitution C G downstream_gene_variant LIRI-JP 3 127651897 127651897 single base substitution C G intron_variant LIRI-JP 3 127653507 127653507 single base substitution G C intron_variant LIRI-JP 3 127655657 127655657 single base substitution C T intron_variant LIRI-JP 3 127657451 127657451 single base substitution T C intron_variant LIRI-JP 3 127659983 127659983 single base substitution C T intron_variant LIRI-JP 3 127663498 127663498 single base substitution G A intron_variant LIRI-JP 3 127664705 127664705 single base substitution A G intron_variant LIRI-JP 3 127667231 127667240 deletion of <=200bp GTACTCTCTG - intron_variant LIRI-JP 3 127669627 127669627 single base substitution C A intron_variant LIRI-JP 3 127670750 127670750 single base substitution G C intron_variant LIRI-JP 3 127676046 127676046 single base substitution T C intron_variant LIRI-JP 3 127676139 127676139 single base substitution T A intron_variant LIRI-JP 3 127678405 127678405 single base substitution G T intron_variant LIRI-JP 3 127679585 127679585 single base substitution A G intron_variant LIRI-JP 3 127680402 127680402 single base substitution C T intron_variant LIRI-JP 3 127680907 127680907 single base substitution G C intron_variant LIRI-JP 3 127681944 127681944 single base substitution C G intron_variant LIRI-JP 3 127683059 127683059 single base substitution A C intron_variant LIRI-JP 3 127686903 127686903 single base substitution T C intron_variant LIRI-JP 3 127687744 127687744 single base substitution T C intron_variant LIRI-JP 3 127689487 127689487 single base substitution G T intron_variant LIRI-JP 3 127691515 127691515 single base substitution A C intron_variant LIRI-JP 3 127693970 127693970 single base substitution G A intron_variant LIRI-JP 3 127695286 127695286 single base substitution T G intron_variant LIRI-JP 3 127695741 127695741 single base substitution G C intron_variant LIRI-JP 3 127698847 127698847 single base substitution C T intron_variant LIRI-JP 3 127699203 127699203 single base substitution C T intron_variant LIRI-JP 3 127700851 127700851 single base substitution G T intron_variant LIRI-JP 3 127702417 127702417 single base substitution G T intron_variant LIRI-JP 3 127702930 127702930 single base substitution T G intron_variant LIRI-JP 3 127705956 127705956 single base substitution G T 3_prime_UTR_variant LIRI-JP 3 127705956 127705956 single base substitution G T downstream_gene_variant LIRI-JP 3 127706709 127706709 single base substitution T A downstream_gene_variant LUSC-KR 3 127629312 127629312 single base substitution G T upstream_gene_variant LUSC-KR 3 127630806 127630806 single base substitution C A upstream_gene_variant LUSC-KR 3 127633395 127633395 single base substitution C A upstream_gene_variant LUSC-KR 3 127636091 127636091 single base substitution G A intron_variant LUSC-KR 3 127643495 127643495 single base substitution A T intron_variant LUSC-KR 3 127647342 127647342 single base substitution A T downstream_gene_variant LUSC-KR 3 127647342 127647342 single base substitution A T intron_variant LUSC-KR 3 127648554 127648554 single base substitution A G downstream_gene_variant LUSC-KR 3 127648554 127648554 single base substitution A G intron_variant LUSC-KR 3 127654791 127654791 single base substitution T A intron_variant LUSC-KR 3 127663237 127663237 single base substitution C A intron_variant LUSC-KR 3 127669927 127669927 single base substitution C G intron_variant LUSC-KR 3 127672789 127672789 single base substitution G A intron_variant LUSC-KR 3 127673178 127673178 single base substitution A T intron_variant LUSC-KR 3 127692892 127692892 single base substitution A G intron_variant LUSC-KR 3 127696895 127696895 single base substitution C A intron_variant LUSC-KR 3 127699346 127699346 single base substitution T G intron_variant LUSC-KR 3 127703085 127703085 single base substitution G A exon_variant LUSC-KR 3 127703085 127703085 single base substitution G A synonymous_variant P187P 561G>A LUSC-KR 3 127703085 127703085 single base substitution G A synonymous_variant P219P 657G>A LUSC-KR 3 127703085 127703085 single base substitution G A synonymous_variant P612P 1836G>A LUSC-KR 3 127703968 127703968 single base substitution C T 3_prime_UTR_variant LUSC-KR 3 127703968 127703968 single base substitution C T downstream_gene_variant LUSC-KR 3 127705800 127705800 single base substitution G A 3_prime_UTR_variant LUSC-KR 3 127705800 127705800 single base substitution G A downstream_gene_variant LUSC-KR 3 127708521 127708521 single base substitution T A downstream_gene_variant LUSC-US 3 127642514 127642514 single base substitution C T exon_variant LUSC-US 3 127642514 127642514 single base substitution C T intron_variant LUSC-US 3 127642514 127642514 single base substitution C T missense_variant H204Y 610C>T LUSC-US 3 127642514 127642514 single base substitution C T upstream_gene_variant LUSC-US 3 127646667 127646667 single base substitution C A 5_prime_UTR_variant LUSC-US 3 127646667 127646667 single base substitution C A exon_variant LUSC-US 3 127646667 127646667 single base substitution C A intron_variant LUSC-US 3 127646667 127646667 single base substitution C A missense_variant S19Y 56C>A LUSC-US 3 127646667 127646667 single base substitution C A synonymous_variant L377L 1131C>A LUSC-US 3 127648994 127648994 single base substitution G A downstream_gene_variant LUSC-US 3 127648994 127648994 single base substitution G A exon_variant LUSC-US 3 127648994 127648994 single base substitution G A intron_variant LUSC-US 3 127648994 127648994 single base substitution G A missense_variant E29K 85G>A LUSC-US 3 127648994 127648994 single base substitution G A missense_variant E454K 1360G>A LUSC-US 3 127648994 127648994 single base substitution G A missense_variant E61K 181G>A LUSC-US 3 127649097 127649097 single base substitution C G downstream_gene_variant LUSC-US 3 127649097 127649097 single base substitution C G exon_variant LUSC-US 3 127649097 127649097 single base substitution C G intron_variant LUSC-US 3 127649097 127649097 single base substitution C G missense_variant A488G 1463C>G LUSC-US 3 127649097 127649097 single base substitution C G missense_variant A63G 188C>G LUSC-US 3 127649097 127649097 single base substitution C G missense_variant A95G 284C>G MALY-DE 3 127631868 127631868 single base substitution A T upstream_gene_variant MALY-DE 3 127633729 127633729 single base substitution A C upstream_gene_variant MALY-DE 3 127643156 127643157 deletion of <=200bp TA - intron_variant MALY-DE 3 127648034 127648034 single base substitution C T downstream_gene_variant MALY-DE 3 127648034 127648034 single base substitution C T intron_variant MALY-DE 3 127650708 127650708 single base substitution T C downstream_gene_variant MALY-DE 3 127650708 127650708 single base substitution T C intron_variant MALY-DE 3 127660916 127660916 single base substitution C A intron_variant MALY-DE 3 127662390 127662390 deletion of <=200bp T - intron_variant MALY-DE 3 127672201 127672201 single base substitution C T intron_variant MALY-DE 3 127673126 127673126 single base substitution T A intron_variant MALY-DE 3 127679201 127679204 deletion of <=200bp ATAA - intron_variant MALY-DE 3 127679597 127679597 single base substitution C T intron_variant MALY-DE 3 127682474 127682474 insertion of <=200bp - GTGTGTT intron_variant MALY-DE 3 127682477 127682477 insertion of <=200bp - TTCAGGT intron_variant MALY-DE 3 127685323 127685323 single base substitution G T intron_variant MALY-DE 3 127685673 127685673 single base substitution A G intron_variant MALY-DE 3 127686703 127686703 single base substitution T C intron_variant MALY-DE 3 127703358 127703358 single base substitution G A 3_prime_UTR_variant MALY-DE 3 127703358 127703358 single base substitution G A downstream_gene_variant MALY-DE 3 127704814 127704814 single base substitution C T 3_prime_UTR_variant MALY-DE 3 127704814 127704814 single base substitution C T downstream_gene_variant MELA-AU 3 127629452 127629452 single base substitution C T upstream_gene_variant MELA-AU 3 127629743 127629743 single base substitution C T upstream_gene_variant MELA-AU 3 127629955 127629955 single base substitution G A upstream_gene_variant MELA-AU 3 127630281 127630281 single base substitution C T upstream_gene_variant MELA-AU 3 127630361 127630361 single base substitution C T upstream_gene_variant MELA-AU 3 127630464 127630465 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 127631042 127631042 single base substitution G A upstream_gene_variant MELA-AU 3 127631082 127631082 single base substitution G A upstream_gene_variant MELA-AU 3 127631566 127631566 single base substitution G A upstream_gene_variant MELA-AU 3 127631763 127631763 single base substitution T C upstream_gene_variant MELA-AU 3 127631784 127631784 single base substitution G A upstream_gene_variant MELA-AU 3 127631887 127631887 single base substitution A T upstream_gene_variant MELA-AU 3 127632077 127632077 single base substitution G A upstream_gene_variant MELA-AU 3 127632082 127632082 single base substitution A T upstream_gene_variant MELA-AU 3 127632092 127632092 single base substitution G A upstream_gene_variant MELA-AU 3 127632623 127632623 single base substitution G A upstream_gene_variant MELA-AU 3 127633333 127633333 single base substitution G A upstream_gene_variant MELA-AU 3 127633366 127633366 single base substitution G A upstream_gene_variant MELA-AU 3 127633749 127633749 single base substitution T C upstream_gene_variant MELA-AU 3 127634177 127634177 single base substitution C G 5_prime_UTR_variant MELA-AU 3 127634177 127634177 single base substitution C G upstream_gene_variant MELA-AU 3 127634277 127634277 single base substitution G A 5_prime_UTR_variant MELA-AU 3 127634277 127634277 single base substitution G A upstream_gene_variant MELA-AU 3 127634311 127634311 single base substitution C A 5_prime_UTR_variant MELA-AU 3 127634311 127634311 single base substitution C A upstream_gene_variant MELA-AU 3 127634339 127634339 single base substitution C T 5_prime_UTR_variant MELA-AU 3 127634339 127634339 single base substitution C T exon_variant MELA-AU 3 127634352 127634352 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 3 127634352 127634352 single base substitution C T exon_variant MELA-AU 3 127634374 127634374 single base substitution C T 5_prime_UTR_variant MELA-AU 3 127634374 127634374 single base substitution C T exon_variant MELA-AU 3 127634425 127634425 single base substitution C T 5_prime_UTR_variant MELA-AU 3 127634425 127634425 single base substitution C T exon_variant MELA-AU 3 127634501 127634501 single base substitution G A intron_variant MELA-AU 3 127634558 127634558 single base substitution C T intron_variant MELA-AU 3 127634615 127634615 single base substitution C T intron_variant MELA-AU 3 127634656 127634656 single base substitution T A intron_variant MELA-AU 3 127634773 127634773 single base substitution C T intron_variant MELA-AU 3 127634788 127634788 single base substitution G A intron_variant MELA-AU 3 127635309 127635309 single base substitution G A intron_variant MELA-AU 3 127635727 127635727 single base substitution G A intron_variant MELA-AU 3 127635999 127635999 single base substitution C T intron_variant MELA-AU 3 127636062 127636062 single base substitution C T intron_variant MELA-AU 3 127636067 127636067 single base substitution C T intron_variant MELA-AU 3 127636208 127636208 single base substitution G A intron_variant MELA-AU 3 127636379 127636379 single base substitution G A intron_variant MELA-AU 3 127636531 127636531 single base substitution G A intron_variant MELA-AU 3 127636666 127636666 single base substitution C T intron_variant MELA-AU 3 127636795 127636795 single base substitution A T intron_variant MELA-AU 3 127636876 127636876 single base substitution G A intron_variant MELA-AU 3 127637172 127637172 single base substitution G A intron_variant MELA-AU 3 127637172 127637172 single base substitution G A upstream_gene_variant MELA-AU 3 127637272 127637272 single base substitution T C intron_variant MELA-AU 3 127637272 127637272 single base substitution T C upstream_gene_variant MELA-AU 3 127637304 127637304 single base substitution C T intron_variant MELA-AU 3 127637304 127637304 single base substitution C T upstream_gene_variant MELA-AU 3 127637338 127637338 single base substitution G A intron_variant MELA-AU 3 127637338 127637338 single base substitution G A upstream_gene_variant MELA-AU 3 127637414 127637415 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 127637414 127637415 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 127637488 127637488 single base substitution G A intron_variant MELA-AU 3 127637488 127637488 single base substitution G A upstream_gene_variant MELA-AU 3 127637715 127637715 single base substitution G A intron_variant MELA-AU 3 127637715 127637715 single base substitution G A upstream_gene_variant MELA-AU 3 127638337 127638337 single base substitution C T intron_variant MELA-AU 3 127638337 127638337 single base substitution C T upstream_gene_variant MELA-AU 3 127639005 127639005 single base substitution T C intron_variant MELA-AU 3 127639005 127639005 single base substitution T C upstream_gene_variant MELA-AU 3 127639141 127639141 single base substitution C T intron_variant MELA-AU 3 127639141 127639141 single base substitution C T upstream_gene_variant MELA-AU 3 127640125 127640125 single base substitution C T intron_variant MELA-AU 3 127640125 127640125 single base substitution C T upstream_gene_variant MELA-AU 3 127640259 127640259 single base substitution C T intron_variant MELA-AU 3 127640259 127640259 single base substitution C T upstream_gene_variant MELA-AU 3 127640681 127640681 single base substitution C T intron_variant MELA-AU 3 127640681 127640681 single base substitution C T upstream_gene_variant MELA-AU 3 127640762 127640762 single base substitution G A intron_variant MELA-AU 3 127640762 127640762 single base substitution G A upstream_gene_variant MELA-AU 3 127641523 127641523 single base substitution C A intron_variant MELA-AU 3 127641523 127641523 single base substitution C A upstream_gene_variant MELA-AU 3 127641673 127641673 single base substitution A G intron_variant MELA-AU 3 127641673 127641673 single base substitution A G upstream_gene_variant MELA-AU 3 127641884 127641884 single base substitution G A 5_prime_UTR_variant MELA-AU 3 127641884 127641884 single base substitution G A intron_variant MELA-AU 3 127641884 127641884 single base substitution G A upstream_gene_variant MELA-AU 3 127641946 127641946 single base substitution C T exon_variant MELA-AU 3 127641946 127641946 single base substitution C T intron_variant MELA-AU 3 127641946 127641946 single base substitution C T synonymous_variant S14S 42C>T MELA-AU 3 127641946 127641946 single base substitution C T upstream_gene_variant MELA-AU 3 127642343 127642343 single base substitution G A 5_prime_UTR_variant MELA-AU 3 127642343 127642343 single base substitution G A exon_variant MELA-AU 3 127642343 127642343 single base substitution G A intron_variant MELA-AU 3 127642343 127642343 single base substitution G A missense_variant D147N 439G>A MELA-AU 3 127642343 127642343 single base substitution G A upstream_gene_variant MELA-AU 3 127642655 127642655 single base substitution C T exon_variant MELA-AU 3 127642655 127642655 single base substitution C T intron_variant MELA-AU 3 127642655 127642655 single base substitution C T stop_gained Q251* 751C>T MELA-AU 3 127642655 127642655 single base substitution C T upstream_gene_variant MELA-AU 3 127642716 127642716 single base substitution T G exon_variant MELA-AU 3 127642716 127642716 single base substitution T G intron_variant MELA-AU 3 127642716 127642716 single base substitution T G missense_variant M271R 812T>G MELA-AU 3 127642716 127642716 single base substitution T G upstream_gene_variant MELA-AU 3 127642779 127642779 single base substitution G A exon_variant MELA-AU 3 127642779 127642779 single base substitution G A intron_variant MELA-AU 3 127642779 127642779 single base substitution G A missense_variant R292K 875G>A MELA-AU 3 127642779 127642779 single base substitution G A upstream_gene_variant MELA-AU 3 127642829 127642829 single base substitution T C exon_variant MELA-AU 3 127642829 127642829 single base substitution T C intron_variant MELA-AU 3 127642829 127642829 single base substitution T C missense_variant Y309H 925T>C MELA-AU 3 127642829 127642829 single base substitution T C upstream_gene_variant MELA-AU 3 127642844 127642844 single base substitution C T exon_variant MELA-AU 3 127642844 127642844 single base substitution C T intron_variant MELA-AU 3 127642844 127642844 single base substitution C T missense_variant P314S 940C>T MELA-AU 3 127642844 127642844 single base substitution C T upstream_gene_variant MELA-AU 3 127642853 127642854 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 3 127642853 127642854 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 127642853 127642854 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant G317K 949GG>AA MELA-AU 3 127642853 127642854 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 127643097 127643097 single base substitution C T intron_variant MELA-AU 3 127643194 127643194 single base substitution A G intron_variant MELA-AU 3 127643298 127643298 single base substitution C T intron_variant MELA-AU 3 127643483 127643483 single base substitution G A intron_variant MELA-AU 3 127643641 127643641 single base substitution G A intron_variant MELA-AU 3 127643646 127643646 single base substitution G A intron_variant MELA-AU 3 127643826 127643826 single base substitution C T intron_variant MELA-AU 3 127643858 127643858 single base substitution A G intron_variant MELA-AU 3 127644036 127644036 single base substitution T G intron_variant MELA-AU 3 127644071 127644071 single base substitution C T intron_variant MELA-AU 3 127644329 127644329 single base substitution C T intron_variant MELA-AU 3 127644473 127644473 single base substitution C T intron_variant MELA-AU 3 127644730 127644730 single base substitution C T intron_variant MELA-AU 3 127644859 127644859 single base substitution G A intron_variant MELA-AU 3 127644913 127644913 single base substitution C T intron_variant MELA-AU 3 127645034 127645034 single base substitution C T intron_variant MELA-AU 3 127645070 127645070 single base substitution T A intron_variant MELA-AU 3 127645093 127645093 single base substitution C T intron_variant MELA-AU 3 127645358 127645358 single base substitution G A intron_variant MELA-AU 3 127645405 127645405 single base substitution C T intron_variant MELA-AU 3 127645595 127645595 single base substitution C T intron_variant MELA-AU 3 127645757 127645757 single base substitution C T intron_variant MELA-AU 3 127645965 127645965 single base substitution G A intron_variant MELA-AU 3 127646171 127646171 single base substitution C T intron_variant MELA-AU 3 127646298 127646298 single base substitution C T intron_variant MELA-AU 3 127646611 127646611 single base substitution C T 5_prime_UTR_variant MELA-AU 3 127646611 127646611 single base substitution C T exon_variant MELA-AU 3 127646611 127646611 single base substitution C T intron_variant MELA-AU 3 127646611 127646611 single base substitution C T missense_variant H359Y 1075C>T MELA-AU 3 127646676 127646676 single base substitution G A 5_prime_UTR_variant MELA-AU 3 127646676 127646676 single base substitution G A exon_variant MELA-AU 3 127646676 127646676 single base substitution G A intron_variant MELA-AU 3 127646676 127646676 single base substitution G A stop_gained W22* 65G>A MELA-AU 3 127646676 127646676 single base substitution G A synonymous_variant L380L 1140G>A MELA-AU 3 127646718 127646718 single base substitution G A exon_variant MELA-AU 3 127646718 127646718 single base substitution G A intron_variant MELA-AU 3 127646718 127646718 single base substitution G A missense_variant M394I 1182G>A MELA-AU 3 127646718 127646718 single base substitution G A start_lost M1I 3G>A MELA-AU 3 127647047 127647047 single base substitution G A downstream_gene_variant MELA-AU 3 127647047 127647047 single base substitution G A intron_variant MELA-AU 3 127647098 127647098 single base substitution C T downstream_gene_variant MELA-AU 3 127647098 127647098 single base substitution C T intron_variant MELA-AU 3 127647109 127647109 single base substitution C T downstream_gene_variant MELA-AU 3 127647109 127647109 single base substitution C T intron_variant MELA-AU 3 127647267 127647267 single base substitution C T downstream_gene_variant MELA-AU 3 127647267 127647267 single base substitution C T intron_variant MELA-AU 3 127647472 127647472 single base substitution G T downstream_gene_variant MELA-AU 3 127647472 127647472 single base substitution G T intron_variant MELA-AU 3 127647575 127647575 single base substitution A T downstream_gene_variant MELA-AU 3 127647575 127647575 single base substitution A T intron_variant MELA-AU 3 127647654 127647654 single base substitution C T downstream_gene_variant MELA-AU 3 127647654 127647654 single base substitution C T intron_variant MELA-AU 3 127647809 127647809 single base substitution G A downstream_gene_variant MELA-AU 3 127647809 127647809 single base substitution G A intron_variant MELA-AU 3 127647814 127647814 single base substitution C T downstream_gene_variant MELA-AU 3 127647814 127647814 single base substitution C T intron_variant MELA-AU 3 127647923 127647923 single base substitution G A downstream_gene_variant MELA-AU 3 127647923 127647923 single base substitution G A intron_variant MELA-AU 3 127647977 127647977 single base substitution G A downstream_gene_variant MELA-AU 3 127647977 127647977 single base substitution G A intron_variant MELA-AU 3 127648359 127648360 multiple base substitution (>=2bp and <=200bp) AT TC downstream_gene_variant MELA-AU 3 127648359 127648360 multiple base substitution (>=2bp and <=200bp) AT TC intron_variant MELA-AU 3 127648739 127648739 single base substitution C T downstream_gene_variant MELA-AU 3 127648739 127648739 single base substitution C T intron_variant MELA-AU 3 127648795 127648795 single base substitution C T downstream_gene_variant MELA-AU 3 127648795 127648795 single base substitution C T intron_variant MELA-AU 3 127649030 127649030 single base substitution G A downstream_gene_variant MELA-AU 3 127649030 127649030 single base substitution G A exon_variant MELA-AU 3 127649030 127649030 single base substitution G A intron_variant MELA-AU 3 127649030 127649030 single base substitution G A missense_variant D41N 121G>A MELA-AU 3 127649030 127649030 single base substitution G A missense_variant D466N 1396G>A MELA-AU 3 127649030 127649030 single base substitution G A missense_variant D73N 217G>A MELA-AU 3 127649080 127649080 single base substitution G A downstream_gene_variant MELA-AU 3 127649080 127649080 single base substitution G A exon_variant MELA-AU 3 127649080 127649080 single base substitution G A intron_variant MELA-AU 3 127649080 127649080 single base substitution G A synonymous_variant K482K 1446G>A MELA-AU 3 127649080 127649080 single base substitution G A synonymous_variant K57K 171G>A MELA-AU 3 127649080 127649080 single base substitution G A synonymous_variant K89K 267G>A MELA-AU 3 127649482 127649482 single base substitution C T downstream_gene_variant MELA-AU 3 127649482 127649482 single base substitution C T intron_variant MELA-AU 3 127649593 127649593 single base substitution C T downstream_gene_variant MELA-AU 3 127649593 127649593 single base substitution C T intron_variant MELA-AU 3 127649753 127649753 single base substitution C T downstream_gene_variant MELA-AU 3 127649753 127649753 single base substitution C T intron_variant MELA-AU 3 127649764 127649764 single base substitution C T downstream_gene_variant MELA-AU 3 127649764 127649764 single base substitution C T intron_variant MELA-AU 3 127649888 127649888 single base substitution G A downstream_gene_variant MELA-AU 3 127649888 127649888 single base substitution G A intron_variant MELA-AU 3 127649920 127649920 single base substitution C T downstream_gene_variant MELA-AU 3 127649920 127649920 single base substitution C T intron_variant MELA-AU 3 127649947 127649947 single base substitution G A downstream_gene_variant MELA-AU 3 127649947 127649947 single base substitution G A intron_variant MELA-AU 3 127650310 127650310 single base substitution C T downstream_gene_variant MELA-AU 3 127650310 127650310 single base substitution C T intron_variant MELA-AU 3 127650428 127650428 single base substitution C T downstream_gene_variant MELA-AU 3 127650428 127650428 single base substitution C T intron_variant MELA-AU 3 127650512 127650512 single base substitution C T downstream_gene_variant MELA-AU 3 127650512 127650512 single base substitution C T intron_variant MELA-AU 3 127650786 127650786 single base substitution A G downstream_gene_variant MELA-AU 3 127650786 127650786 single base substitution A G intron_variant MELA-AU 3 127650828 127650828 single base substitution G A downstream_gene_variant MELA-AU 3 127650828 127650828 single base substitution G A intron_variant MELA-AU 3 127650839 127650839 single base substitution G A downstream_gene_variant MELA-AU 3 127650839 127650839 single base substitution G A intron_variant MELA-AU 3 127651008 127651008 single base substitution G A downstream_gene_variant MELA-AU 3 127651008 127651008 single base substitution G A intron_variant MELA-AU 3 127651011 127651011 single base substitution G A downstream_gene_variant MELA-AU 3 127651011 127651011 single base substitution G A intron_variant MELA-AU 3 127651149 127651149 single base substitution G A downstream_gene_variant MELA-AU 3 127651149 127651149 single base substitution G A intron_variant MELA-AU 3 127651172 127651172 single base substitution C T downstream_gene_variant MELA-AU 3 127651172 127651172 single base substitution C T intron_variant MELA-AU 3 127651256 127651256 single base substitution C T downstream_gene_variant MELA-AU 3 127651256 127651256 single base substitution C T intron_variant MELA-AU 3 127651506 127651506 single base substitution G A downstream_gene_variant MELA-AU 3 127651506 127651506 single base substitution G A intron_variant MELA-AU 3 127651594 127651594 single base substitution T G downstream_gene_variant MELA-AU 3 127651594 127651594 single base substitution T G intron_variant MELA-AU 3 127651841 127651841 single base substitution G A downstream_gene_variant MELA-AU 3 127651841 127651841 single base substitution G A intron_variant MELA-AU 3 127651877 127651877 single base substitution G A downstream_gene_variant MELA-AU 3 127651877 127651877 single base substitution G A intron_variant MELA-AU 3 127651911 127651911 single base substitution G A downstream_gene_variant MELA-AU 3 127651911 127651911 single base substitution G A intron_variant MELA-AU 3 127652218 127652218 single base substitution C G intron_variant MELA-AU 3 127652302 127652302 single base substitution G A intron_variant MELA-AU 3 127652322 127652322 single base substitution A G intron_variant MELA-AU 3 127652323 127652323 single base substitution G A intron_variant MELA-AU 3 127652477 127652477 single base substitution C T intron_variant MELA-AU 3 127652545 127652545 single base substitution C T intron_variant MELA-AU 3 127652562 127652562 single base substitution G A intron_variant MELA-AU 3 127652630 127652630 single base substitution A T intron_variant MELA-AU 3 127652631 127652631 single base substitution A C intron_variant MELA-AU 3 127652861 127652861 single base substitution C T intron_variant MELA-AU 3 127653163 127653163 single base substitution C T intron_variant MELA-AU 3 127653337 127653337 single base substitution G A intron_variant MELA-AU 3 127653403 127653403 single base substitution G A intron_variant MELA-AU 3 127653431 127653431 single base substitution G A intron_variant MELA-AU 3 127653493 127653493 single base substitution C T intron_variant MELA-AU 3 127653654 127653654 single base substitution G A intron_variant MELA-AU 3 127653692 127653692 single base substitution C T intron_variant MELA-AU 3 127653884 127653884 single base substitution T A intron_variant MELA-AU 3 127653971 127653971 single base substitution A G intron_variant MELA-AU 3 127654170 127654170 single base substitution G A intron_variant MELA-AU 3 127654197 127654197 single base substitution G A intron_variant MELA-AU 3 127654352 127654352 single base substitution C T intron_variant MELA-AU 3 127654502 127654502 single base substitution G A intron_variant MELA-AU 3 127654550 127654550 single base substitution G A intron_variant MELA-AU 3 127654816 127654816 single base substitution G A intron_variant MELA-AU 3 127654948 127654948 single base substitution C T intron_variant MELA-AU 3 127654969 127654969 single base substitution G A intron_variant MELA-AU 3 127654975 127654975 single base substitution G A intron_variant MELA-AU 3 127655006 127655006 single base substitution C T intron_variant MELA-AU 3 127655020 127655020 single base substitution C T intron_variant MELA-AU 3 127655092 127655092 single base substitution C T intron_variant MELA-AU 3 127655132 127655133 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 127655209 127655209 single base substitution G A intron_variant MELA-AU 3 127655566 127655566 single base substitution A T intron_variant MELA-AU 3 127655791 127655791 single base substitution G A intron_variant MELA-AU 3 127655820 127655820 single base substitution G A intron_variant MELA-AU 3 127655909 127655909 single base substitution C T intron_variant MELA-AU 3 127655941 127655942 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 127655970 127655970 single base substitution G A intron_variant MELA-AU 3 127656108 127656108 single base substitution C T intron_variant MELA-AU 3 127656190 127656190 single base substitution A T intron_variant MELA-AU 3 127656231 127656231 single base substitution A G intron_variant MELA-AU 3 127656499 127656499 single base substitution G A intron_variant MELA-AU 3 127656759 127656759 single base substitution G A intron_variant MELA-AU 3 127656917 127656917 single base substitution G A intron_variant MELA-AU 3 127657148 127657148 single base substitution G A intron_variant MELA-AU 3 127657244 127657244 single base substitution G A intron_variant MELA-AU 3 127657438 127657438 single base substitution G A intron_variant MELA-AU 3 127657545 127657545 single base substitution G A intron_variant MELA-AU 3 127657653 127657653 single base substitution T C intron_variant MELA-AU 3 127657704 127657704 single base substitution G A intron_variant MELA-AU 3 127657823 127657823 single base substitution G A intron_variant MELA-AU 3 127657834 127657834 single base substitution A C intron_variant MELA-AU 3 127658003 127658003 single base substitution C T intron_variant MELA-AU 3 127658012 127658012 single base substitution G A intron_variant MELA-AU 3 127658118 127658118 single base substitution C T intron_variant MELA-AU 3 127658171 127658171 single base substitution A T intron_variant MELA-AU 3 127658218 127658218 single base substitution C G intron_variant MELA-AU 3 127658228 127658228 single base substitution G A intron_variant MELA-AU 3 127658340 127658340 single base substitution G A intron_variant MELA-AU 3 127658430 127658430 single base substitution C T intron_variant MELA-AU 3 127658549 127658549 single base substitution G A intron_variant MELA-AU 3 127658687 127658687 single base substitution A C intron_variant MELA-AU 3 127658694 127658694 single base substitution C T intron_variant MELA-AU 3 127658968 127658968 single base substitution C T intron_variant MELA-AU 3 127658995 127658996 multiple base substitution (>=2bp and <=200bp) AT TC intron_variant MELA-AU 3 127659050 127659050 single base substitution G A intron_variant MELA-AU 3 127659286 127659286 single base substitution G A intron_variant MELA-AU 3 127659330 127659330 single base substitution G A intron_variant MELA-AU 3 127659428 127659428 single base substitution G A intron_variant MELA-AU 3 127659515 127659515 single base substitution G A intron_variant MELA-AU 3 127659528 127659528 single base substitution C T intron_variant MELA-AU 3 127659710 127659710 single base substitution G A intron_variant MELA-AU 3 127659711 127659711 single base substitution G A intron_variant MELA-AU 3 127659712 127659712 single base substitution G A intron_variant MELA-AU 3 127660011 127660011 single base substitution C T intron_variant MELA-AU 3 127660223 127660223 single base substitution C T intron_variant MELA-AU 3 127660297 127660297 single base substitution C T intron_variant MELA-AU 3 127660777 127660777 single base substitution C T intron_variant MELA-AU 3 127661007 127661007 single base substitution C T intron_variant MELA-AU 3 127661897 127661897 single base substitution C T intron_variant MELA-AU 3 127661953 127661953 single base substitution G A intron_variant MELA-AU 3 127662011 127662011 single base substitution C T intron_variant MELA-AU 3 127662017 127662017 single base substitution G A intron_variant MELA-AU 3 127662028 127662028 single base substitution C T intron_variant MELA-AU 3 127662116 127662116 single base substitution T C intron_variant MELA-AU 3 127662298 127662298 single base substitution G A intron_variant MELA-AU 3 127662312 127662312 single base substitution C T intron_variant MELA-AU 3 127662349 127662349 single base substitution T G intron_variant MELA-AU 3 127662417 127662417 single base substitution C T intron_variant MELA-AU 3 127662495 127662495 single base substitution C T intron_variant MELA-AU 3 127662627 127662627 single base substitution C T intron_variant MELA-AU 3 127662775 127662775 single base substitution G A intron_variant MELA-AU 3 127662813 127662813 single base substitution C T intron_variant MELA-AU 3 127662992 127662992 single base substitution T A intron_variant MELA-AU 3 127663030 127663030 single base substitution G A intron_variant MELA-AU 3 127663445 127663445 single base substitution G A intron_variant MELA-AU 3 127663448 127663448 single base substitution C T intron_variant MELA-AU 3 127663581 127663581 single base substitution T C intron_variant MELA-AU 3 127663630 127663630 single base substitution G A intron_variant MELA-AU 3 127663828 127663828 single base substitution C T intron_variant MELA-AU 3 127663935 127663935 single base substitution G A intron_variant MELA-AU 3 127664225 127664225 single base substitution C T intron_variant MELA-AU 3 127664701 127664701 single base substitution C G intron_variant MELA-AU 3 127665073 127665073 single base substitution C T intron_variant MELA-AU 3 127665297 127665297 single base substitution C T intron_variant MELA-AU 3 127665362 127665362 single base substitution A G intron_variant MELA-AU 3 127665475 127665475 single base substitution T C intron_variant MELA-AU 3 127665571 127665571 single base substitution C T intron_variant MELA-AU 3 127665896 127665896 single base substitution C T intron_variant MELA-AU 3 127666030 127666030 single base substitution C T intron_variant MELA-AU 3 127666112 127666112 single base substitution G A intron_variant MELA-AU 3 127666230 127666230 single base substitution C T intron_variant MELA-AU 3 127666345 127666345 single base substitution C T intron_variant MELA-AU 3 127666432 127666432 single base substitution C T intron_variant MELA-AU 3 127666603 127666603 single base substitution C T intron_variant MELA-AU 3 127666770 127666770 single base substitution C T intron_variant MELA-AU 3 127666804 127666804 single base substitution C T intron_variant MELA-AU 3 127666844 127666844 single base substitution C T intron_variant MELA-AU 3 127666948 127666948 single base substitution G A intron_variant MELA-AU 3 127667132 127667132 single base substitution G A intron_variant MELA-AU 3 127667274 127667274 single base substitution T C intron_variant MELA-AU 3 127667339 127667339 single base substitution G A intron_variant MELA-AU 3 127667349 127667349 single base substitution C T intron_variant MELA-AU 3 127667511 127667511 single base substitution C T intron_variant MELA-AU 3 127667583 127667583 single base substitution C A intron_variant MELA-AU 3 127667643 127667643 single base substitution G A intron_variant MELA-AU 3 127667762 127667762 single base substitution C T intron_variant MELA-AU 3 127668091 127668091 single base substitution C T intron_variant MELA-AU 3 127668375 127668375 single base substitution G A intron_variant MELA-AU 3 127668528 127668528 single base substitution C T intron_variant MELA-AU 3 127668550 127668550 single base substitution G A intron_variant MELA-AU 3 127668564 127668564 single base substitution G A intron_variant MELA-AU 3 127668608 127668608 single base substitution C T intron_variant MELA-AU 3 127668704 127668704 single base substitution G A intron_variant MELA-AU 3 127668906 127668906 single base substitution G A intron_variant MELA-AU 3 127669453 127669453 single base substitution G A intron_variant MELA-AU 3 127669542 127669542 single base substitution G A intron_variant MELA-AU 3 127669584 127669584 single base substitution G A intron_variant MELA-AU 3 127669603 127669603 single base substitution G A intron_variant MELA-AU 3 127669634 127669634 single base substitution G A intron_variant MELA-AU 3 127669672 127669672 single base substitution C T intron_variant MELA-AU 3 127669701 127669701 single base substitution C T intron_variant MELA-AU 3 127670020 127670020 single base substitution G A intron_variant MELA-AU 3 127670080 127670080 single base substitution C T intron_variant MELA-AU 3 127670172 127670172 single base substitution G A intron_variant MELA-AU 3 127670417 127670417 single base substitution G A intron_variant MELA-AU 3 127670719 127670719 single base substitution G A intron_variant MELA-AU 3 127670732 127670732 single base substitution C T intron_variant MELA-AU 3 127670795 127670795 single base substitution T C intron_variant MELA-AU 3 127670812 127670812 single base substitution G A intron_variant MELA-AU 3 127670900 127670900 single base substitution G A intron_variant MELA-AU 3 127670958 127670958 single base substitution G A intron_variant MELA-AU 3 127671259 127671259 single base substitution G A intron_variant MELA-AU 3 127671279 127671279 single base substitution C T intron_variant MELA-AU 3 127671663 127671663 single base substitution C T intron_variant MELA-AU 3 127671664 127671664 single base substitution G A intron_variant MELA-AU 3 127671682 127671682 single base substitution G A intron_variant MELA-AU 3 127671709 127671709 single base substitution T G intron_variant MELA-AU 3 127671744 127671744 single base substitution G A intron_variant MELA-AU 3 127672064 127672064 single base substitution C T intron_variant MELA-AU 3 127672352 127672352 single base substitution G T intron_variant MELA-AU 3 127672433 127672433 single base substitution A T intron_variant MELA-AU 3 127672839 127672839 single base substitution T C intron_variant MELA-AU 3 127672840 127672840 single base substitution C T intron_variant MELA-AU 3 127672960 127672960 single base substitution C T intron_variant MELA-AU 3 127672965 127672965 single base substitution G A intron_variant MELA-AU 3 127673301 127673301 single base substitution C T intron_variant MELA-AU 3 127673398 127673398 single base substitution G A intron_variant MELA-AU 3 127673737 127673737 single base substitution C T intron_variant MELA-AU 3 127673751 127673751 single base substitution G A intron_variant MELA-AU 3 127674039 127674039 single base substitution G A intron_variant MELA-AU 3 127674213 127674213 single base substitution G A intron_variant MELA-AU 3 127674266 127674266 single base substitution G A intron_variant MELA-AU 3 127674415 127674415 single base substitution C T intron_variant MELA-AU 3 127674484 127674484 single base substitution G A intron_variant MELA-AU 3 127674687 127674687 single base substitution C T intron_variant MELA-AU 3 127675864 127675864 single base substitution G A intron_variant MELA-AU 3 127676352 127676352 single base substitution C T intron_variant MELA-AU 3 127676495 127676495 single base substitution C T intron_variant MELA-AU 3 127676724 127676724 single base substitution C T intron_variant MELA-AU 3 127676786 127676786 single base substitution G A intron_variant MELA-AU 3 127677041 127677041 single base substitution G A intron_variant MELA-AU 3 127677221 127677221 single base substitution C T intron_variant MELA-AU 3 127677245 127677245 single base substitution T G intron_variant MELA-AU 3 127677516 127677516 single base substitution C T intron_variant MELA-AU 3 127677837 127677837 single base substitution G A intron_variant MELA-AU 3 127677841 127677841 single base substitution C T intron_variant MELA-AU 3 127677886 127677886 single base substitution T C intron_variant MELA-AU 3 127678292 127678292 single base substitution A T intron_variant MELA-AU 3 127678312 127678312 single base substitution C T intron_variant MELA-AU 3 127678676 127678676 single base substitution A C intron_variant MELA-AU 3 127678726 127678726 single base substitution G A intron_variant MELA-AU 3 127678746 127678746 single base substitution C T intron_variant MELA-AU 3 127678811 127678811 single base substitution C T intron_variant MELA-AU 3 127678812 127678812 single base substitution C T intron_variant MELA-AU 3 127678860 127678860 single base substitution G A intron_variant MELA-AU 3 127679113 127679113 single base substitution G A intron_variant MELA-AU 3 127679178 127679178 single base substitution C T intron_variant MELA-AU 3 127679214 127679214 single base substitution A C intron_variant MELA-AU 3 127679336 127679336 single base substitution T A intron_variant MELA-AU 3 127679407 127679407 single base substitution C T intron_variant MELA-AU 3 127679480 127679480 single base substitution C T intron_variant MELA-AU 3 127679613 127679613 single base substitution C T intron_variant MELA-AU 3 127679649 127679649 single base substitution C T intron_variant MELA-AU 3 127679751 127679751 single base substitution C T intron_variant MELA-AU 3 127680403 127680403 single base substitution C T intron_variant MELA-AU 3 127680754 127680754 single base substitution T A intron_variant MELA-AU 3 127680788 127680788 single base substitution G A intron_variant MELA-AU 3 127681040 127681040 single base substitution C T intron_variant MELA-AU 3 127681366 127681366 single base substitution C T intron_variant MELA-AU 3 127681377 127681377 single base substitution G A intron_variant MELA-AU 3 127681523 127681523 single base substitution C T intron_variant MELA-AU 3 127681579 127681579 single base substitution G A intron_variant MELA-AU 3 127681808 127681808 single base substitution C T intron_variant MELA-AU 3 127682071 127682071 single base substitution G A exon_variant MELA-AU 3 127682071 127682071 single base substitution G A missense_variant R118Q 353G>A MELA-AU 3 127682071 127682071 single base substitution G A missense_variant R511Q 1532G>A MELA-AU 3 127682071 127682071 single base substitution G A missense_variant R86Q 257G>A MELA-AU 3 127682111 127682111 single base substitution G A exon_variant MELA-AU 3 127682111 127682111 single base substitution G A synonymous_variant G131G 393G>A MELA-AU 3 127682111 127682111 single base substitution G A synonymous_variant G524G 1572G>A MELA-AU 3 127682111 127682111 single base substitution G A synonymous_variant G99G 297G>A MELA-AU 3 127682160 127682160 single base substitution C T exon_variant MELA-AU 3 127682160 127682160 single base substitution C T missense_variant R116C 346C>T MELA-AU 3 127682160 127682160 single base substitution C T missense_variant R148C 442C>T MELA-AU 3 127682160 127682160 single base substitution C T missense_variant R541C 1621C>T MELA-AU 3 127682194 127682194 single base substitution G A exon_variant MELA-AU 3 127682194 127682194 single base substitution G A missense_variant G127E 380G>A MELA-AU 3 127682194 127682194 single base substitution G A missense_variant G159E 476G>A MELA-AU 3 127682194 127682194 single base substitution G A missense_variant G552E 1655G>A MELA-AU 3 127682223 127682223 single base substitution G A exon_variant MELA-AU 3 127682223 127682223 single base substitution G A missense_variant G137R 409G>A MELA-AU 3 127682223 127682223 single base substitution G A missense_variant G169R 505G>A MELA-AU 3 127682223 127682223 single base substitution G A missense_variant G562R 1684G>A MELA-AU 3 127682478 127682478 single base substitution C T intron_variant MELA-AU 3 127682625 127682625 single base substitution G A intron_variant MELA-AU 3 127682706 127682706 single base substitution C T intron_variant MELA-AU 3 127682835 127682835 single base substitution C T intron_variant MELA-AU 3 127682908 127682908 single base substitution G A intron_variant MELA-AU 3 127683057 127683057 single base substitution G A intron_variant MELA-AU 3 127683394 127683394 single base substitution A T intron_variant MELA-AU 3 127683439 127683439 single base substitution C T intron_variant MELA-AU 3 127683542 127683542 single base substitution G A intron_variant MELA-AU 3 127683981 127683981 single base substitution G A intron_variant MELA-AU 3 127684081 127684081 single base substitution C T intron_variant MELA-AU 3 127684153 127684153 single base substitution G A intron_variant MELA-AU 3 127684226 127684226 single base substitution G A intron_variant MELA-AU 3 127684313 127684313 single base substitution G A intron_variant MELA-AU 3 127684494 127684494 single base substitution G A intron_variant MELA-AU 3 127684515 127684515 single base substitution G A intron_variant MELA-AU 3 127684625 127684625 single base substitution G A intron_variant MELA-AU 3 127684696 127684696 single base substitution G A intron_variant MELA-AU 3 127684707 127684707 single base substitution A G intron_variant MELA-AU 3 127684747 127684747 single base substitution C T intron_variant MELA-AU 3 127684909 127684909 single base substitution C T intron_variant MELA-AU 3 127684996 127684996 single base substitution G A intron_variant MELA-AU 3 127685021 127685021 single base substitution C T intron_variant MELA-AU 3 127685060 127685060 single base substitution C T intron_variant MELA-AU 3 127685220 127685220 single base substitution C T intron_variant MELA-AU 3 127685318 127685318 single base substitution G A intron_variant MELA-AU 3 127685324 127685324 single base substitution G A intron_variant MELA-AU 3 127685344 127685344 single base substitution G A intron_variant MELA-AU 3 127685427 127685427 single base substitution A T intron_variant MELA-AU 3 127685519 127685519 single base substitution G A intron_variant MELA-AU 3 127685526 127685526 single base substitution G A intron_variant MELA-AU 3 127685560 127685560 single base substitution A G intron_variant MELA-AU 3 127685568 127685568 single base substitution C T intron_variant MELA-AU 3 127685628 127685628 single base substitution G A intron_variant MELA-AU 3 127685698 127685698 single base substitution C T intron_variant MELA-AU 3 127685780 127685780 single base substitution G A intron_variant MELA-AU 3 127685981 127685981 single base substitution G A intron_variant MELA-AU 3 127686330 127686330 single base substitution G A intron_variant MELA-AU 3 127686352 127686352 single base substitution C T intron_variant MELA-AU 3 127686524 127686524 single base substitution G A intron_variant MELA-AU 3 127686612 127686612 single base substitution G A intron_variant MELA-AU 3 127687414 127687414 single base substitution G A intron_variant MELA-AU 3 127687415 127687415 single base substitution G A intron_variant MELA-AU 3 127687478 127687478 single base substitution G A intron_variant MELA-AU 3 127687626 127687626 single base substitution G A intron_variant MELA-AU 3 127687737 127687737 single base substitution C T intron_variant MELA-AU 3 127687810 127687810 single base substitution T A intron_variant MELA-AU 3 127687829 127687829 single base substitution T C intron_variant MELA-AU 3 127687868 127687868 single base substitution G A intron_variant MELA-AU 3 127687951 127687951 single base substitution G A intron_variant MELA-AU 3 127687966 127687966 single base substitution C T intron_variant MELA-AU 3 127688014 127688014 single base substitution G A intron_variant MELA-AU 3 127688141 127688141 single base substitution G A intron_variant MELA-AU 3 127688255 127688255 single base substitution G A intron_variant MELA-AU 3 127688284 127688284 single base substitution A T intron_variant MELA-AU 3 127688314 127688314 single base substitution A G intron_variant MELA-AU 3 127688838 127688838 single base substitution A G intron_variant MELA-AU 3 127689103 127689103 single base substitution G A intron_variant MELA-AU 3 127689453 127689453 single base substitution G A intron_variant MELA-AU 3 127690176 127690176 single base substitution G A intron_variant MELA-AU 3 127690506 127690506 single base substitution G A intron_variant MELA-AU 3 127690646 127690646 single base substitution C T intron_variant MELA-AU 3 127690710 127690710 single base substitution C T intron_variant MELA-AU 3 127690711 127690711 single base substitution C T intron_variant MELA-AU 3 127690888 127690888 single base substitution C T intron_variant MELA-AU 3 127691007 127691007 single base substitution C T intron_variant MELA-AU 3 127691646 127691646 single base substitution C T intron_variant MELA-AU 3 127692174 127692174 single base substitution G A intron_variant MELA-AU 3 127692612 127692612 single base substitution G T intron_variant MELA-AU 3 127692850 127692850 single base substitution C T intron_variant MELA-AU 3 127693027 127693027 single base substitution C T intron_variant MELA-AU 3 127693230 127693230 single base substitution C T intron_variant MELA-AU 3 127693467 127693467 single base substitution C T intron_variant MELA-AU 3 127693522 127693522 single base substitution A G intron_variant MELA-AU 3 127693742 127693742 single base substitution G A intron_variant MELA-AU 3 127693743 127693743 single base substitution G A intron_variant MELA-AU 3 127693803 127693803 single base substitution G A intron_variant MELA-AU 3 127694029 127694029 single base substitution C T intron_variant MELA-AU 3 127694449 127694450 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 127695209 127695209 single base substitution C T intron_variant MELA-AU 3 127695254 127695254 single base substitution T A intron_variant MELA-AU 3 127695267 127695267 single base substitution C T intron_variant MELA-AU 3 127695269 127695269 single base substitution C T intron_variant MELA-AU 3 127695581 127695581 single base substitution C T intron_variant MELA-AU 3 127695859 127695859 single base substitution C T intron_variant MELA-AU 3 127695875 127695875 single base substitution C T intron_variant MELA-AU 3 127695968 127695969 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 3 127695970 127695970 single base substitution G A intron_variant MELA-AU 3 127695990 127695990 single base substitution A G intron_variant MELA-AU 3 127696200 127696200 single base substitution G A intron_variant MELA-AU 3 127696218 127696218 single base substitution G A intron_variant MELA-AU 3 127696681 127696681 single base substitution C T intron_variant MELA-AU 3 127696763 127696763 single base substitution G A intron_variant MELA-AU 3 127696899 127696899 single base substitution C G intron_variant MELA-AU 3 127697012 127697012 single base substitution C T intron_variant MELA-AU 3 127697066 127697066 single base substitution C T intron_variant MELA-AU 3 127697186 127697186 single base substitution C T intron_variant MELA-AU 3 127697319 127697319 single base substitution C T intron_variant MELA-AU 3 127697336 127697336 single base substitution G A intron_variant MELA-AU 3 127697391 127697391 single base substitution C T intron_variant MELA-AU 3 127697417 127697417 single base substitution G A intron_variant MELA-AU 3 127697438 127697438 single base substitution G A intron_variant MELA-AU 3 127697444 127697444 single base substitution G A intron_variant MELA-AU 3 127697446 127697446 single base substitution G A intron_variant MELA-AU 3 127697463 127697463 single base substitution T A intron_variant MELA-AU 3 127697470 127697470 single base substitution C T intron_variant MELA-AU 3 127697479 127697479 single base substitution C T intron_variant MELA-AU 3 127697723 127697723 single base substitution G A intron_variant MELA-AU 3 127697769 127697769 single base substitution G A intron_variant MELA-AU 3 127697906 127697906 single base substitution G A intron_variant MELA-AU 3 127697971 127697971 single base substitution C T intron_variant MELA-AU 3 127698159 127698171 deletion of <=200bp TTAAAGCAGTCTC - intron_variant MELA-AU 3 127698249 127698249 single base substitution G A intron_variant MELA-AU 3 127698435 127698435 single base substitution C T intron_variant MELA-AU 3 127698700 127698700 deletion of <=200bp T - intron_variant MELA-AU 3 127698919 127698919 single base substitution G A intron_variant MELA-AU 3 127699017 127699017 single base substitution C T intron_variant MELA-AU 3 127699092 127699092 single base substitution G A intron_variant MELA-AU 3 127699364 127699364 single base substitution G A intron_variant MELA-AU 3 127699509 127699509 single base substitution C T intron_variant MELA-AU 3 127699632 127699632 single base substitution C T intron_variant MELA-AU 3 127699706 127699706 single base substitution C A intron_variant MELA-AU 3 127699747 127699747 single base substitution C T intron_variant MELA-AU 3 127700013 127700013 single base substitution C T intron_variant MELA-AU 3 127700315 127700315 single base substitution C T intron_variant MELA-AU 3 127700554 127700554 single base substitution G A intron_variant MELA-AU 3 127700575 127700575 single base substitution G A intron_variant MELA-AU 3 127700642 127700642 single base substitution G C intron_variant MELA-AU 3 127700952 127700952 single base substitution G A intron_variant MELA-AU 3 127700993 127700993 single base substitution G A intron_variant MELA-AU 3 127701125 127701125 single base substitution C T intron_variant MELA-AU 3 127701191 127701191 single base substitution G A intron_variant MELA-AU 3 127701295 127701295 single base substitution C T intron_variant MELA-AU 3 127701412 127701412 single base substitution C T intron_variant MELA-AU 3 127701493 127701493 single base substitution G A intron_variant MELA-AU 3 127701628 127701628 single base substitution C T intron_variant MELA-AU 3 127701743 127701743 single base substitution T G intron_variant MELA-AU 3 127701782 127701782 single base substitution C T intron_variant MELA-AU 3 127701790 127701790 single base substitution C T intron_variant MELA-AU 3 127701810 127701810 single base substitution C T intron_variant MELA-AU 3 127701958 127701958 single base substitution C T intron_variant MELA-AU 3 127702017 127702017 single base substitution G A intron_variant MELA-AU 3 127702033 127702033 single base substitution C T intron_variant MELA-AU 3 127702241 127702241 single base substitution C T intron_variant MELA-AU 3 127702305 127702305 single base substitution A T intron_variant MELA-AU 3 127702420 127702420 single base substitution A G intron_variant MELA-AU 3 127702733 127702733 single base substitution C T intron_variant MELA-AU 3 127703188 127703188 single base substitution G A 3_prime_UTR_variant MELA-AU 3 127703188 127703188 single base substitution G A downstream_gene_variant MELA-AU 3 127703287 127703287 single base substitution C T 3_prime_UTR_variant MELA-AU 3 127703287 127703287 single base substitution C T downstream_gene_variant MELA-AU 3 127703589 127703589 single base substitution G A 3_prime_UTR_variant MELA-AU 3 127703589 127703589 single base substitution G A downstream_gene_variant MELA-AU 3 127704064 127704064 single base substitution G A 3_prime_UTR_variant MELA-AU 3 127704064 127704064 single base substitution G A downstream_gene_variant MELA-AU 3 127704533 127704533 single base substitution C T 3_prime_UTR_variant MELA-AU 3 127704533 127704533 single base substitution C T downstream_gene_variant MELA-AU 3 127704552 127704552 single base substitution G A 3_prime_UTR_variant MELA-AU 3 127704552 127704552 single base substitution G A downstream_gene_variant MELA-AU 3 127704572 127704572 single base substitution C T 3_prime_UTR_variant MELA-AU 3 127704572 127704572 single base substitution C T downstream_gene_variant MELA-AU 3 127704594 127704594 single base substitution G A 3_prime_UTR_variant MELA-AU 3 127704594 127704594 single base substitution G A downstream_gene_variant MELA-AU 3 127704656 127704656 single base substitution G A 3_prime_UTR_variant MELA-AU 3 127704656 127704656 single base substitution G A downstream_gene_variant MELA-AU 3 127704697 127704697 single base substitution C T 3_prime_UTR_variant MELA-AU 3 127704697 127704697 single base substitution C T downstream_gene_variant MELA-AU 3 127704794 127704794 single base substitution C T 3_prime_UTR_variant MELA-AU 3 127704794 127704794 single base substitution C T downstream_gene_variant MELA-AU 3 127704845 127704845 single base substitution G A 3_prime_UTR_variant MELA-AU 3 127704845 127704845 single base substitution G A downstream_gene_variant MELA-AU 3 127704877 127704877 single base substitution C T 3_prime_UTR_variant MELA-AU 3 127704877 127704877 single base substitution C T downstream_gene_variant MELA-AU 3 127704991 127704991 single base substitution C T 3_prime_UTR_variant MELA-AU 3 127704991 127704991 single base substitution C T downstream_gene_variant MELA-AU 3 127705288 127705288 single base substitution G A 3_prime_UTR_variant MELA-AU 3 127705288 127705288 single base substitution G A downstream_gene_variant MELA-AU 3 127705362 127705362 single base substitution C T 3_prime_UTR_variant MELA-AU 3 127705362 127705362 single base substitution C T downstream_gene_variant MELA-AU 3 127705395 127705395 single base substitution G A 3_prime_UTR_variant MELA-AU 3 127705395 127705395 single base substitution G A downstream_gene_variant MELA-AU 3 127705428 127705428 single base substitution T C 3_prime_UTR_variant MELA-AU 3 127705428 127705428 single base substitution T C downstream_gene_variant MELA-AU 3 127705565 127705565 single base substitution C T 3_prime_UTR_variant MELA-AU 3 127705565 127705565 single base substitution C T downstream_gene_variant MELA-AU 3 127705583 127705583 single base substitution G A 3_prime_UTR_variant MELA-AU 3 127705583 127705583 single base substitution G A downstream_gene_variant MELA-AU 3 127705600 127705600 single base substitution G A 3_prime_UTR_variant MELA-AU 3 127705600 127705600 single base substitution G A downstream_gene_variant MELA-AU 3 127705799 127705799 single base substitution C T 3_prime_UTR_variant MELA-AU 3 127705799 127705799 single base substitution C T downstream_gene_variant MELA-AU 3 127705860 127705860 single base substitution G A 3_prime_UTR_variant MELA-AU 3 127705860 127705860 single base substitution G A downstream_gene_variant MELA-AU 3 127706196 127706196 single base substitution C T 3_prime_UTR_variant MELA-AU 3 127706196 127706196 single base substitution C T downstream_gene_variant MELA-AU 3 127706241 127706241 single base substitution C T 3_prime_UTR_variant MELA-AU 3 127706241 127706241 single base substitution C T downstream_gene_variant MELA-AU 3 127706531 127706531 single base substitution C T downstream_gene_variant MELA-AU 3 127706766 127706766 single base substitution A G downstream_gene_variant MELA-AU 3 127707038 127707038 single base substitution C T downstream_gene_variant MELA-AU 3 127707278 127707278 single base substitution C T downstream_gene_variant MELA-AU 3 127707347 127707347 single base substitution G A downstream_gene_variant MELA-AU 3 127707380 127707380 single base substitution G A downstream_gene_variant MELA-AU 3 127707444 127707444 single base substitution G A downstream_gene_variant MELA-AU 3 127707759 127707759 single base substitution C T downstream_gene_variant MELA-AU 3 127707828 127707828 single base substitution G A downstream_gene_variant MELA-AU 3 127708266 127708266 single base substitution T C downstream_gene_variant MELA-AU 3 127708412 127708412 single base substitution G A downstream_gene_variant MELA-AU 3 127708812 127708812 single base substitution C T downstream_gene_variant MELA-AU 3 127708843 127708843 single base substitution C T downstream_gene_variant MELA-AU 3 127709122 127709122 single base substitution C T downstream_gene_variant MELA-AU 3 127709303 127709303 single base substitution G A downstream_gene_variant MELA-AU 3 127709431 127709431 single base substitution G A downstream_gene_variant MELA-AU 3 127710033 127710034 multiple base substitution (>=2bp and <=200bp) CA TC downstream_gene_variant MELA-AU 3 127710426 127710426 single base substitution C T downstream_gene_variant MELA-AU 3 127710533 127710533 single base substitution G A downstream_gene_variant MELA-AU 3 127710895 127710895 single base substitution C T downstream_gene_variant MELA-AU 3 127711063 127711064 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 127711145 127711145 single base substitution C T downstream_gene_variant MELA-AU 3 127711244 127711244 single base substitution G A downstream_gene_variant MELA-AU 3 127711386 127711386 single base substitution T C downstream_gene_variant MELA-AU 3 127711491 127711491 single base substitution T G downstream_gene_variant MELA-AU 3 127711512 127711512 single base substitution G A downstream_gene_variant ORCA-IN 3 127650473 127650473 single base substitution G C downstream_gene_variant ORCA-IN 3 127650473 127650473 single base substitution G C intron_variant ORCA-IN 3 127664823 127664823 single base substitution G A intron_variant ORCA-IN 3 127666536 127666536 single base substitution G T intron_variant OV-AU 3 127630521 127630521 single base substitution C A upstream_gene_variant OV-AU 3 127634176 127634176 single base substitution G C 5_prime_UTR_variant OV-AU 3 127634176 127634176 single base substitution G C upstream_gene_variant OV-AU 3 127634840 127634840 single base substitution C G intron_variant OV-AU 3 127636889 127636889 single base substitution C T intron_variant OV-AU 3 127644685 127644685 single base substitution C A intron_variant OV-AU 3 127650311 127650311 single base substitution A G downstream_gene_variant OV-AU 3 127650311 127650311 single base substitution A G intron_variant OV-AU 3 127661090 127661090 single base substitution A T intron_variant OV-AU 3 127675299 127675299 single base substitution A G intron_variant OV-AU 3 127685278 127685278 single base substitution C A intron_variant OV-AU 3 127693691 127693691 single base substitution G C intron_variant OV-AU 3 127696927 127696927 single base substitution G A intron_variant OV-AU 3 127705937 127705937 single base substitution G T 3_prime_UTR_variant OV-AU 3 127705937 127705937 single base substitution G T downstream_gene_variant OV-AU 3 127706017 127706017 single base substitution C A 3_prime_UTR_variant OV-AU 3 127706017 127706017 single base substitution C A downstream_gene_variant OV-US 3 127682210 127682210 single base substitution C T exon_variant OV-US 3 127682210 127682210 single base substitution C T synonymous_variant C132C 396C>T OV-US 3 127682210 127682210 single base substitution C T synonymous_variant C164C 492C>T OV-US 3 127682210 127682210 single base substitution C T synonymous_variant C557C 1671C>T PACA-AU 3 127629433 127629433 single base substitution T C upstream_gene_variant PACA-AU 3 127641629 127641629 single base substitution G A intron_variant PACA-AU 3 127641629 127641629 single base substitution G A upstream_gene_variant PACA-AU 3 127642159 127642159 single base substitution A G exon_variant PACA-AU 3 127642159 127642159 single base substitution A G intron_variant PACA-AU 3 127642159 127642159 single base substitution A G synonymous_variant L85L 255A>G PACA-AU 3 127642159 127642159 single base substitution A G upstream_gene_variant PACA-AU 3 127654183 127654224 deletion of <=200bp TATTTTGGAACAAAGTTGCTGTTTGTAATGAAATCAACTCAG - intron_variant PACA-AU 3 127657099 127657099 single base substitution A T intron_variant PACA-AU 3 127663988 127663988 single base substitution T G intron_variant PACA-AU 3 127664476 127664476 single base substitution T G intron_variant PACA-AU 3 127664811 127664811 single base substitution C T intron_variant PACA-AU 3 127665133 127665133 single base substitution T C intron_variant PACA-AU 3 127665613 127665613 single base substitution C A intron_variant PACA-AU 3 127665876 127665877 deletion of <=200bp TA - intron_variant PACA-AU 3 127667188 127667188 insertion of <=200bp - GTGGA intron_variant PACA-AU 3 127674356 127674356 single base substitution G A intron_variant PACA-AU 3 127687540 127687540 single base substitution G A intron_variant PACA-AU 3 127691221 127691221 single base substitution T A intron_variant PACA-AU 3 127692602 127692602 single base substitution C A intron_variant PACA-AU 3 127693970 127693970 single base substitution G A intron_variant PACA-AU 3 127695223 127695223 single base substitution T C intron_variant PACA-AU 3 127695269 127695269 single base substitution C T intron_variant PACA-AU 3 127695819 127695819 single base substitution C T intron_variant PACA-AU 3 127698916 127698916 single base substitution C A intron_variant PACA-AU 3 127708210 127708210 single base substitution C G downstream_gene_variant PACA-AU 3 127708415 127708415 single base substitution A G downstream_gene_variant PACA-AU 3 127708887 127708887 single base substitution T G downstream_gene_variant PACA-AU 3 127709386 127709386 single base substitution C A downstream_gene_variant PACA-CA 3 127631005 127631012 deletion of <=200bp AAAGACTG - upstream_gene_variant PACA-CA 3 127637146 127637146 single base substitution G A intron_variant PACA-CA 3 127637146 127637146 single base substitution G A upstream_gene_variant PACA-CA 3 127640902 127640902 single base substitution C T intron_variant PACA-CA 3 127640902 127640902 single base substitution C T upstream_gene_variant PACA-CA 3 127640950 127640950 single base substitution C A intron_variant PACA-CA 3 127640950 127640950 single base substitution C A upstream_gene_variant PACA-CA 3 127643344 127643344 single base substitution T C intron_variant PACA-CA 3 127645647 127645647 insertion of <=200bp - T intron_variant PACA-CA 3 127646918 127646918 single base substitution T C exon_variant PACA-CA 3 127646918 127646918 single base substitution T C intron_variant PACA-CA 3 127647377 127647377 single base substitution C A downstream_gene_variant PACA-CA 3 127647377 127647377 single base substitution C A intron_variant PACA-CA 3 127657382 127657382 single base substitution A C intron_variant PACA-CA 3 127658101 127658101 single base substitution C T intron_variant PACA-CA 3 127659743 127659743 single base substitution G T intron_variant PACA-CA 3 127662609 127662609 single base substitution C T intron_variant PACA-CA 3 127663517 127663517 deletion of <=200bp G - intron_variant PACA-CA 3 127663519 127663519 deletion of <=200bp C - intron_variant PACA-CA 3 127664801 127664801 single base substitution C T intron_variant PACA-CA 3 127674263 127674263 single base substitution A G intron_variant PACA-CA 3 127674640 127674640 single base substitution G A intron_variant PACA-CA 3 127678675 127678679 deletion of <=200bp TAAAT - intron_variant PACA-CA 3 127685433 127685433 single base substitution C A intron_variant PACA-CA 3 127686496 127686496 single base substitution A G intron_variant PACA-CA 3 127687683 127687683 insertion of <=200bp - A intron_variant PACA-CA 3 127688071 127688071 single base substitution G C intron_variant PACA-CA 3 127691787 127691787 single base substitution C T intron_variant PACA-CA 3 127696046 127696046 single base substitution G A intron_variant PACA-CA 3 127696250 127696250 single base substitution C T intron_variant PACA-CA 3 127698143 127698143 single base substitution T A intron_variant PACA-CA 3 127699175 127699175 single base substitution T A intron_variant PACA-CA 3 127700340 127700340 single base substitution G A intron_variant PACA-CA 3 127702544 127702544 single base substitution G A intron_variant PACA-CA 3 127705707 127705707 single base substitution G A 3_prime_UTR_variant PACA-CA 3 127705707 127705707 single base substitution G A downstream_gene_variant PACA-CA 3 127707830 127707830 single base substitution G A downstream_gene_variant PACA-CA 3 127708694 127708694 single base substitution C T downstream_gene_variant PACA-CA 3 127711349 127711349 single base substitution G A downstream_gene_variant PAEN-AU 3 127666436 127666436 single base substitution C T intron_variant PAEN-AU 3 127707764 127707764 single base substitution G A downstream_gene_variant PAEN-IT 3 127659845 127659845 single base substitution A G intron_variant PAEN-IT 3 127686146 127686146 single base substitution A T intron_variant PAEN-IT 3 127700818 127700818 single base substitution C T intron_variant PAEN-IT 3 127711265 127711265 single base substitution T A downstream_gene_variant PBCA-DE 3 127637470 127637470 single base substitution C G intron_variant PBCA-DE 3 127637470 127637470 single base substitution C G upstream_gene_variant PBCA-DE 3 127648350 127648350 single base substitution G A downstream_gene_variant PBCA-DE 3 127648350 127648350 single base substitution G A intron_variant PBCA-DE 3 127650054 127650054 insertion of <=200bp - T downstream_gene_variant PBCA-DE 3 127650054 127650054 insertion of <=200bp - T intron_variant PBCA-DE 3 127654077 127654077 single base substitution G T intron_variant PBCA-DE 3 127668980 127668980 single base substitution T C intron_variant PBCA-DE 3 127674624 127674624 single base substitution A G intron_variant PBCA-DE 3 127707286 127707286 single base substitution G T downstream_gene_variant PRAD-CA 3 127677194 127677194 single base substitution G A intron_variant PRAD-CA 3 127705722 127705722 single base substitution G A 3_prime_UTR_variant PRAD-CA 3 127705722 127705722 single base substitution G A downstream_gene_variant PRAD-CA 3 127705971 127705971 single base substitution G A 3_prime_UTR_variant PRAD-CA 3 127705971 127705971 single base substitution G A downstream_gene_variant PRAD-UK 3 127630837 127630837 insertion of <=200bp - A upstream_gene_variant PRAD-UK 3 127632348 127632348 single base substitution G A upstream_gene_variant PRAD-UK 3 127634478 127634478 single base substitution C T intron_variant PRAD-UK 3 127637383 127637383 single base substitution G A intron_variant PRAD-UK 3 127637383 127637383 single base substitution G A upstream_gene_variant PRAD-UK 3 127643818 127643818 single base substitution T A intron_variant PRAD-UK 3 127645653 127645653 single base substitution T G intron_variant PRAD-UK 3 127662338 127662338 insertion of <=200bp - A intron_variant PRAD-UK 3 127662995 127662995 single base substitution C A intron_variant PRAD-UK 3 127674132 127674132 deletion of <=200bp T - intron_variant PRAD-UK 3 127681749 127681749 single base substitution G C intron_variant PRAD-UK 3 127692490 127692490 single base substitution A T intron_variant PRAD-UK 3 127695337 127695337 single base substitution C T intron_variant PRAD-UK 3 127695692 127695692 single base substitution C G intron_variant PRAD-US 3 127642852 127642852 single base substitution C T exon_variant PRAD-US 3 127642852 127642852 single base substitution C T intron_variant PRAD-US 3 127642852 127642852 single base substitution C T synonymous_variant Y316Y 948C>T PRAD-US 3 127642852 127642852 single base substitution C T upstream_gene_variant PRAD-US 3 127646682 127646682 single base substitution T C 5_prime_UTR_variant PRAD-US 3 127646682 127646682 single base substitution T C exon_variant PRAD-US 3 127646682 127646682 single base substitution T C intron_variant PRAD-US 3 127646682 127646682 single base substitution T C splice_region_variant PRAD-US 3 127646682 127646682 single base substitution T C synonymous_variant S382S 1146T>C READ-US 3 127646735 127646735 single base substitution A G exon_variant READ-US 3 127646735 127646735 single base substitution A G intron_variant READ-US 3 127646735 127646735 single base substitution A G missense_variant Y400C 1199A>G READ-US 3 127646735 127646735 single base substitution A G missense_variant Y7C 20A>G READ-US 3 127702990 127702990 single base substitution A C exon_variant READ-US 3 127702990 127702990 single base substitution A C missense_variant N156H 466A>C READ-US 3 127702990 127702990 single base substitution A C missense_variant N188H 562A>C READ-US 3 127702990 127702990 single base substitution A C missense_variant N581H 1741A>C RECA-EU 3 127643439 127643439 single base substitution G A intron_variant RECA-EU 3 127654178 127654178 single base substitution G A intron_variant RECA-EU 3 127685076 127685076 single base substitution G A intron_variant RECA-EU 3 127699783 127699783 single base substitution A C intron_variant RECA-EU 3 127706459 127706459 single base substitution T C 3_prime_UTR_variant RECA-EU 3 127706459 127706459 single base substitution T C downstream_gene_variant SKCA-BR 3 127632117 127632117 single base substitution C T upstream_gene_variant SKCA-BR 3 127633957 127633957 single base substitution C T upstream_gene_variant SKCA-BR 3 127634815 127634815 single base substitution G A intron_variant SKCA-BR 3 127636064 127636064 single base substitution G A intron_variant SKCA-BR 3 127637167 127637167 single base substitution G A intron_variant SKCA-BR 3 127637167 127637167 single base substitution G A upstream_gene_variant SKCA-BR 3 127639072 127639072 single base substitution T C intron_variant SKCA-BR 3 127639072 127639072 single base substitution T C upstream_gene_variant SKCA-BR 3 127640224 127640224 single base substitution G T intron_variant SKCA-BR 3 127640224 127640224 single base substitution G T upstream_gene_variant SKCA-BR 3 127641591 127641591 single base substitution G A intron_variant SKCA-BR 3 127641591 127641591 single base substitution G A upstream_gene_variant SKCA-BR 3 127642818 127642818 single base substitution C T exon_variant SKCA-BR 3 127642818 127642818 single base substitution C T intron_variant SKCA-BR 3 127642818 127642818 single base substitution C T missense_variant S305L 914C>T SKCA-BR 3 127642818 127642818 single base substitution C T upstream_gene_variant SKCA-BR 3 127642918 127642918 single base substitution A G exon_variant SKCA-BR 3 127642918 127642918 single base substitution A G intron_variant SKCA-BR 3 127642918 127642918 single base substitution A G synonymous_variant G338G 1014A>G SKCA-BR 3 127642918 127642918 single base substitution A G upstream_gene_variant SKCA-BR 3 127643466 127643466 single base substitution G A intron_variant SKCA-BR 3 127643510 127643510 single base substitution C T intron_variant SKCA-BR 3 127644294 127644294 single base substitution G A intron_variant SKCA-BR 3 127644714 127644714 single base substitution C T intron_variant SKCA-BR 3 127645690 127645690 single base substitution T A intron_variant SKCA-BR 3 127648821 127648821 single base substitution A G downstream_gene_variant SKCA-BR 3 127648821 127648821 single base substitution A G intron_variant SKCA-BR 3 127649716 127649716 single base substitution C T downstream_gene_variant SKCA-BR 3 127649716 127649716 single base substitution C T intron_variant SKCA-BR 3 127649753 127649753 single base substitution C T downstream_gene_variant SKCA-BR 3 127649753 127649753 single base substitution C T intron_variant SKCA-BR 3 127650650 127650650 single base substitution C A downstream_gene_variant SKCA-BR 3 127650650 127650650 single base substitution C A intron_variant SKCA-BR 3 127651439 127651439 single base substitution C T downstream_gene_variant SKCA-BR 3 127651439 127651439 single base substitution C T intron_variant SKCA-BR 3 127652029 127652029 single base substitution C T intron_variant SKCA-BR 3 127652665 127652665 single base substitution G A intron_variant SKCA-BR 3 127655029 127655029 single base substitution T G intron_variant SKCA-BR 3 127656310 127656310 single base substitution C T intron_variant SKCA-BR 3 127657172 127657172 single base substitution T C intron_variant SKCA-BR 3 127657304 127657304 single base substitution G A intron_variant SKCA-BR 3 127657334 127657334 single base substitution G A intron_variant SKCA-BR 3 127658627 127658627 single base substitution C T intron_variant SKCA-BR 3 127658694 127658694 single base substitution C T intron_variant SKCA-BR 3 127659593 127659593 single base substitution G A intron_variant SKCA-BR 3 127659733 127659733 single base substitution A T intron_variant SKCA-BR 3 127661373 127661373 single base substitution C T intron_variant SKCA-BR 3 127663445 127663445 single base substitution G A intron_variant SKCA-BR 3 127663644 127663644 single base substitution G A intron_variant SKCA-BR 3 127664058 127664058 single base substitution C T intron_variant SKCA-BR 3 127664519 127664519 single base substitution C T intron_variant SKCA-BR 3 127665865 127665865 single base substitution C T intron_variant SKCA-BR 3 127665985 127665985 single base substitution C T intron_variant SKCA-BR 3 127666112 127666112 single base substitution G A intron_variant SKCA-BR 3 127667954 127667954 single base substitution G A intron_variant SKCA-BR 3 127669290 127669290 single base substitution A C intron_variant SKCA-BR 3 127671079 127671079 single base substitution C T intron_variant SKCA-BR 3 127673888 127673888 single base substitution G A intron_variant SKCA-BR 3 127673889 127673889 single base substitution G A intron_variant SKCA-BR 3 127675268 127675268 single base substitution C T intron_variant SKCA-BR 3 127675668 127675668 single base substitution G A intron_variant SKCA-BR 3 127676999 127676999 single base substitution G A intron_variant SKCA-BR 3 127677219 127677219 single base substitution C T intron_variant SKCA-BR 3 127677483 127677483 single base substitution G A intron_variant SKCA-BR 3 127680386 127680386 single base substitution T A intron_variant SKCA-BR 3 127683440 127683440 single base substitution G A intron_variant SKCA-BR 3 127683498 127683498 single base substitution A G intron_variant SKCA-BR 3 127683998 127683998 single base substitution G A intron_variant SKCA-BR 3 127684168 127684168 single base substitution C T intron_variant SKCA-BR 3 127684243 127684243 single base substitution G A intron_variant SKCA-BR 3 127686057 127686057 single base substitution G A intron_variant SKCA-BR 3 127688073 127688073 single base substitution G T intron_variant SKCA-BR 3 127689132 127689132 single base substitution T A intron_variant SKCA-BR 3 127689332 127689332 single base substitution C T intron_variant SKCA-BR 3 127691869 127691869 single base substitution G A intron_variant SKCA-BR 3 127692174 127692174 single base substitution G A intron_variant SKCA-BR 3 127696602 127696602 single base substitution T C intron_variant SKCA-BR 3 127699120 127699120 single base substitution C T intron_variant SKCA-BR 3 127700381 127700381 single base substitution C T intron_variant SKCA-BR 3 127701544 127701544 single base substitution G A intron_variant SKCA-BR 3 127705350 127705350 single base substitution C T 3_prime_UTR_variant SKCA-BR 3 127705350 127705350 single base substitution C T downstream_gene_variant SKCA-BR 3 127706213 127706213 single base substitution C T 3_prime_UTR_variant SKCA-BR 3 127706213 127706213 single base substitution C T downstream_gene_variant SKCA-BR 3 127707597 127707597 single base substitution C T downstream_gene_variant SKCA-BR 3 127709698 127709698 single base substitution C T downstream_gene_variant SKCA-BR 3 127710243 127710243 single base substitution G A downstream_gene_variant SKCM-US 3 127642031 127642031 single base substitution C T exon_variant SKCM-US 3 127642031 127642031 single base substitution C T intron_variant SKCM-US 3 127642031 127642031 single base substitution C T missense_variant P43S 127C>T SKCM-US 3 127642031 127642031 single base substitution C T upstream_gene_variant SKCM-US 3 127642053 127642053 single base substitution C T exon_variant SKCM-US 3 127642053 127642053 single base substitution C T intron_variant SKCM-US 3 127642053 127642053 single base substitution C T missense_variant A50V 149C>T SKCM-US 3 127642053 127642053 single base substitution C T upstream_gene_variant SKCM-US 3 127642062 127642062 single base substitution G T exon_variant SKCM-US 3 127642062 127642062 single base substitution G T intron_variant SKCM-US 3 127642062 127642062 single base substitution G T missense_variant S53I 158G>T SKCM-US 3 127642062 127642062 single base substitution G T upstream_gene_variant SKCM-US 3 127642489 127642489 single base substitution G A exon_variant SKCM-US 3 127642489 127642489 single base substitution G A intron_variant SKCM-US 3 127642489 127642489 single base substitution G A synonymous_variant L195L 585G>A SKCM-US 3 127642489 127642489 single base substitution G A upstream_gene_variant SKCM-US 3 127642587 127642587 single base substitution C T exon_variant SKCM-US 3 127642587 127642587 single base substitution C T intron_variant SKCM-US 3 127642587 127642587 single base substitution C T missense_variant S228F 683C>T SKCM-US 3 127642587 127642587 single base substitution C T upstream_gene_variant SKCM-US 3 127642655 127642655 single base substitution C T exon_variant SKCM-US 3 127642655 127642655 single base substitution C T intron_variant SKCM-US 3 127642655 127642655 single base substitution C T stop_gained Q251* 751C>T SKCM-US 3 127642655 127642655 single base substitution C T upstream_gene_variant SKCM-US 3 127642780 127642780 single base substitution G A exon_variant SKCM-US 3 127642780 127642780 single base substitution G A intron_variant SKCM-US 3 127642780 127642780 single base substitution G A synonymous_variant R292R 876G>A SKCM-US 3 127642780 127642780 single base substitution G A upstream_gene_variant SKCM-US 3 127642822 127642822 single base substitution G A exon_variant SKCM-US 3 127642822 127642822 single base substitution G A intron_variant SKCM-US 3 127642822 127642822 single base substitution G A synonymous_variant R306R 918G>A SKCM-US 3 127642822 127642822 single base substitution G A upstream_gene_variant SKCM-US 3 127642829 127642829 single base substitution T C exon_variant SKCM-US 3 127642829 127642829 single base substitution T C intron_variant SKCM-US 3 127642829 127642829 single base substitution T C missense_variant Y309H 925T>C SKCM-US 3 127642829 127642829 single base substitution T C upstream_gene_variant SKCM-US 3 127642844 127642844 single base substitution C T exon_variant SKCM-US 3 127642844 127642844 single base substitution C T intron_variant SKCM-US 3 127642844 127642844 single base substitution C T missense_variant P314S 940C>T SKCM-US 3 127642844 127642844 single base substitution C T upstream_gene_variant SKCM-US 3 127642866 127642866 single base substitution G A exon_variant SKCM-US 3 127642866 127642866 single base substitution G A intron_variant SKCM-US 3 127642866 127642866 single base substitution G A missense_variant G321E 962G>A SKCM-US 3 127642866 127642866 single base substitution G A upstream_gene_variant SKCM-US 3 127646621 127646621 single base substitution G A 5_prime_UTR_variant SKCM-US 3 127646621 127646621 single base substitution G A exon_variant SKCM-US 3 127646621 127646621 single base substitution G A intron_variant SKCM-US 3 127646621 127646621 single base substitution G A missense_variant E4K 10G>A SKCM-US 3 127646621 127646621 single base substitution G A missense_variant G362E 1085G>A SKCM-US 3 127646650 127646650 single base substitution G A 5_prime_UTR_variant SKCM-US 3 127646650 127646650 single base substitution G A exon_variant SKCM-US 3 127646650 127646650 single base substitution G A intron_variant SKCM-US 3 127646650 127646650 single base substitution G A missense_variant A372T 1114G>A SKCM-US 3 127646650 127646650 single base substitution G A synonymous_variant Q13Q 39G>A SKCM-US 3 127646676 127646676 single base substitution G A 5_prime_UTR_variant SKCM-US 3 127646676 127646676 single base substitution G A exon_variant SKCM-US 3 127646676 127646676 single base substitution G A intron_variant SKCM-US 3 127646676 127646676 single base substitution G A stop_gained W22* 65G>A SKCM-US 3 127646676 127646676 single base substitution G A synonymous_variant L380L 1140G>A SKCM-US 3 127646784 127646784 single base substitution G A exon_variant SKCM-US 3 127646784 127646784 single base substitution G A intron_variant SKCM-US 3 127646784 127646784 single base substitution G A stop_gained W23* 69G>A SKCM-US 3 127646784 127646784 single base substitution G A stop_gained W416* 1248G>A SKCM-US 3 127646797 127646797 single base substitution C T exon_variant SKCM-US 3 127646797 127646797 single base substitution C T intron_variant SKCM-US 3 127646797 127646797 single base substitution C T missense_variant P28S 82C>T SKCM-US 3 127646797 127646797 single base substitution C T missense_variant P421S 1261C>T SKCM-US 3 127682071 127682071 single base substitution G A exon_variant SKCM-US 3 127682071 127682071 single base substitution G A missense_variant R118Q 353G>A SKCM-US 3 127682071 127682071 single base substitution G A missense_variant R511Q 1532G>A SKCM-US 3 127682071 127682071 single base substitution G A missense_variant R86Q 257G>A SKCM-US 3 127682078 127682078 deletion of <=200bp C - exon_variant SKCM-US 3 127682078 127682078 deletion of <=200bp C - frameshift_variant C120 SKCM-US 3 127682078 127682078 deletion of <=200bp C - frameshift_variant C513 SKCM-US 3 127682078 127682078 deletion of <=200bp C - frameshift_variant C88 SKCM-US 3 127682111 127682111 single base substitution G A exon_variant SKCM-US 3 127682111 127682111 single base substitution G A synonymous_variant G131G 393G>A SKCM-US 3 127682111 127682111 single base substitution G A synonymous_variant G524G 1572G>A SKCM-US 3 127682111 127682111 single base substitution G A synonymous_variant G99G 297G>A SKCM-US 3 127682170 127682170 single base substitution C T exon_variant SKCM-US 3 127682170 127682170 single base substitution C T missense_variant S119F 356C>T SKCM-US 3 127682170 127682170 single base substitution C T missense_variant S151F 452C>T SKCM-US 3 127682170 127682170 single base substitution C T missense_variant S544F 1631C>T SKCM-US 3 127702959 127702959 single base substitution C T exon_variant SKCM-US 3 127702959 127702959 single base substitution C T synonymous_variant S145S 435C>T SKCM-US 3 127702959 127702959 single base substitution C T synonymous_variant S177S 531C>T SKCM-US 3 127702959 127702959 single base substitution C T synonymous_variant S570S 1710C>T SKCM-US 3 127702981 127702981 single base substitution C T exon_variant SKCM-US 3 127702981 127702981 single base substitution C T missense_variant P153S 457C>T SKCM-US 3 127702981 127702981 single base substitution C T missense_variant P185S 553C>T SKCM-US 3 127702981 127702981 single base substitution C T missense_variant P578S 1732C>T SKCM-US 3 127703092 127703092 single base substitution G A exon_variant SKCM-US 3 127703092 127703092 single base substitution G A missense_variant D190N 568G>A SKCM-US 3 127703092 127703092 single base substitution G A missense_variant D222N 664G>A SKCM-US 3 127703092 127703092 single base substitution G A missense_variant D615N 1843G>A STAD-US 3 127642066 127642066 single base substitution T A exon_variant STAD-US 3 127642066 127642066 single base substitution T A intron_variant STAD-US 3 127642066 127642066 single base substitution T A synonymous_variant P54P 162T>A STAD-US 3 127642066 127642066 single base substitution T A upstream_gene_variant STAD-US 3 127642914 127642914 single base substitution C T exon_variant STAD-US 3 127642914 127642914 single base substitution C T intron_variant STAD-US 3 127642914 127642914 single base substitution C T missense_variant A337V 1010C>T STAD-US 3 127642914 127642914 single base substitution C T upstream_gene_variant STAD-US 3 127646815 127646815 single base substitution G A exon_variant STAD-US 3 127646815 127646815 single base substitution G A intron_variant STAD-US 3 127646815 127646815 single base substitution G A missense_variant A34T 100G>A STAD-US 3 127646815 127646815 single base substitution G A missense_variant A427T 1279G>A STAD-US 3 127703079 127703079 deletion of <=200bp C - exon_variant STAD-US 3 127703079 127703079 deletion of <=200bp C - frameshift_variant I185 STAD-US 3 127703079 127703079 deletion of <=200bp C - frameshift_variant I217 STAD-US 3 127703079 127703079 deletion of <=200bp C - frameshift_variant I610 THCA-SA 3 127641968 127641968 single base substitution C A exon_variant THCA-SA 3 127641968 127641968 single base substitution C A intron_variant THCA-SA 3 127641968 127641968 single base substitution C A missense_variant Q22K 64C>A THCA-SA 3 127641968 127641968 single base substitution C A upstream_gene_variant THCA-SA 3 127642814 127642814 single base substitution G C exon_variant THCA-SA 3 127642814 127642814 single base substitution G C intron_variant THCA-SA 3 127642814 127642814 single base substitution G C missense_variant V304L 910G>C THCA-SA 3 127642814 127642814 single base substitution G C upstream_gene_variant UCEC-US 3 127641975 127641975 single base substitution T C exon_variant UCEC-US 3 127641975 127641975 single base substitution T C intron_variant UCEC-US 3 127641975 127641975 single base substitution T C missense_variant M24T 71T>C UCEC-US 3 127641975 127641975 single base substitution T C upstream_gene_variant UCEC-US 3 127642005 127642005 single base substitution T C exon_variant UCEC-US 3 127642005 127642005 single base substitution T C intron_variant UCEC-US 3 127642005 127642005 single base substitution T C missense_variant V34A 101T>C UCEC-US 3 127642005 127642005 single base substitution T C upstream_gene_variant UCEC-US 3 127642361 127642361 single base substitution A T 5_prime_UTR_variant UCEC-US 3 127642361 127642361 single base substitution A T exon_variant UCEC-US 3 127642361 127642361 single base substitution A T intron_variant UCEC-US 3 127642361 127642361 single base substitution A T stop_gained K153* 457A>T UCEC-US 3 127642361 127642361 single base substitution A T upstream_gene_variant UCEC-US 3 127642395 127642395 single base substitution G T exon_variant UCEC-US 3 127642395 127642395 single base substitution G T intron_variant UCEC-US 3 127642395 127642395 single base substitution G T missense_variant S164I 491G>T UCEC-US 3 127642395 127642395 single base substitution G T upstream_gene_variant UCEC-US 3 127642523 127642523 single base substitution G T exon_variant UCEC-US 3 127642523 127642523 single base substitution G T intron_variant UCEC-US 3 127642523 127642523 single base substitution G T stop_gained E207* 619G>T UCEC-US 3 127642523 127642523 single base substitution G T upstream_gene_variant UCEC-US 3 127642695 127642695 single base substitution C A exon_variant UCEC-US 3 127642695 127642695 single base substitution C A intron_variant UCEC-US 3 127642695 127642695 single base substitution C A missense_variant S264Y 791C>A UCEC-US 3 127642695 127642695 single base substitution C A upstream_gene_variant UCEC-US 3 127642779 127642779 single base substitution G T exon_variant UCEC-US 3 127642779 127642779 single base substitution G T intron_variant UCEC-US 3 127642779 127642779 single base substitution G T missense_variant R292M 875G>T UCEC-US 3 127642779 127642779 single base substitution G T upstream_gene_variant UCEC-US 3 127642821 127642821 single base substitution G A exon_variant UCEC-US 3 127642821 127642821 single base substitution G A intron_variant UCEC-US 3 127642821 127642821 single base substitution G A missense_variant R306Q 917G>A UCEC-US 3 127642821 127642821 single base substitution G A upstream_gene_variant UCEC-US 3 127646812 127646812 single base substitution T G exon_variant UCEC-US 3 127646812 127646812 single base substitution T G intron_variant UCEC-US 3 127646812 127646812 single base substitution T G missense_variant L33V 97T>G UCEC-US 3 127646812 127646812 single base substitution T G missense_variant L426V 1276T>G UCEC-US 3 127702943 127702943 single base substitution G A exon_variant UCEC-US 3 127702943 127702943 single base substitution G A missense_variant R140H 419G>A UCEC-US 3 127702943 127702943 single base substitution G A missense_variant R172H 515G>A UCEC-US 3 127702943 127702943 single base substitution G A missense_variant R565H 1694G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T2420 COSM4694107 c.809G>C p.G270A Substitution - Missense 3:127923870-127923870 + 587376 COSM1211370 c.76G>T p.E26* Substitution - Nonsense 3:127923137-127923137 + TCGA-18-3409-01 COSM727612 c.610C>T p.H204Y Substitution - Missense 3:127923671-127923671 + T2420 COSM4694108 c.809G>C p.G270A Substitution - Missense 3:127923870-127923870 + CSCC-19-T COSM4469422 c.159C>T p.S53S Substitution - coding silent 3:127923220-127923220 + BD87T COSM5425623 c.1836G>A p.P612P Substitution - coding silent 3:127984242-127984242 + TCGA-EE-A3AA-06 COSM3587058 c.940C>T p.P314S Substitution - Missense 3:127924001-127924001 + 35M COSM5581412 c.602G>A p.W201* Substitution - Nonsense 3:127923663-127923663 + TCGA-18-3409-01 COSM727611 c.610C>T p.H204Y Substitution - Missense 3:127923671-127923671 + CN-AML-08-T COSM5425623 c.1836G>A p.P612P Substitution - coding silent 3:127984242-127984242 + TCGA-F4-6570-01 COSM1418741 c.1830delC p.P612fs*>12 Deletion - Frameshift 3:127984236-127984236 + Au1 COSM5596895 c.766G>A p.A256T Substitution - Missense 3:127923827-127923827 + TCGA-FS-A1ZK-06 COSM3587049 c.683C>T p.S228F Substitution - Missense 3:127923744-127923744 + TCGA-EE-A3JA-06 COSM3587052 c.876G>A p.R292R Substitution - coding silent 3:127923937-127923937 + CSCC-56-T COSM4479383 c.231C>T p.I77I Substitution - coding silent 3:127923292-127923292 + 35M COSM5581413 c.602G>A p.W201* Substitution - Nonsense 3:127923663-127923663 + B22-Tumor COSM4005251 c.137G>A p.R46K Substitution - Missense 3:127923198-127923198 + CSCC-27-T COSM4524107 c.1253G>A p.R418K Substitution - Missense 3:127927946-127927946 + ME041T COSM228050 c.452G>A p.R151Q Substitution - Missense 3:127923513-127923513 + TCGA-AP-A056-01 COSM1037945 c.457A>T p.K153* Substitution - Nonsense 3:127923518-127923518 + TCGA-B5-A11E-01 COSM1037954 c.917G>A p.R306Q Substitution - Missense 3:127923978-127923978 + TCGA-EJ-7781-01 COSM271325 c.948C>T p.Y316Y Substitution - coding silent 3:127924009-127924009 + 11-P8004 COSM4583904 c.1229C>G p.S410C Substitution - Missense 3:127927922-127927922 + TCGA-AY-6197-01 COSM1418740 c.1645G>A p.A549T Substitution - Missense 3:127963341-127963341 + 2492700 COSM1037955 c.917G>A p.R306Q Substitution - Missense 3:127923978-127923978 + TCGA-AA-3833-01 COSM271326 c.948C>T p.Y316Y Substitution - coding silent 3:127924009-127924009 + 40M COSM5585511 c.451C>T p.R151* Substitution - Nonsense 3:127923512-127923512 + TCGA-BS-A0UV-01 COSM1037950 c.791C>A p.S264Y Substitution - Missense 3:127923852-127923852 + TCGA-BS-A0UV-01 COSM1037941 c.71T>C p.M24T Substitution - Missense 3:127923132-127923132 + ESCC-D13 COSM5045320 c.640G>C p.V214L Substitution - Missense 3:127923701-127923701 + TCGA-B0-4836-01 COSM3364981 c.930C>G p.F310L Substitution - Missense 3:127923991-127923991 + T33 COSM5344339 c.916C>T p.R306W Substitution - Missense 3:127923977-127923977 + TCGA-EE-A2MM-06 COSM3587050 c.751C>T p.Q251* Substitution - Nonsense 3:127923812-127923812 + TCGA-BS-A0UV-01 COSM1037949 c.619G>T p.E207* Substitution - Nonsense 3:127923680-127923680 + RKO COSM3059397 c.1179G>A p.Q393Q Substitution - coding silent 3:127927872-127927872 + 2492702 COSM3587065 c.1572G>A p.G524G Substitution - coding silent 3:127963268-127963268 + CN-AML-NR-08-Dx COSM1418735 c.64C>A p.Q22K Substitution - Missense 3:127923125-127923125 + 2492710 COSM5601666 c.1693C>T p.R565C Substitution - Missense 3:127984099-127984099 + CN-AML-NR-08-Dx COSM5425623 c.1836G>A p.P612P Substitution - coding silent 3:127984242-127984242 + S00825 COSM5659229 c.129T>A p.P43P Substitution - coding silent 3:127923190-127923190 + 35M COSM4595770 c.679C>T p.P227S Substitution - Missense 3:127923740-127923740 + TCGA-EE-A2MM-06 COSM3587051 c.751C>T p.Q251* Substitution - Nonsense 3:127923812-127923812 + TCGA-DA-A3F8-06 COSM3587064 c.1261C>T p.P421S Substitution - Missense 3:127927954-127927954 + TCGA-CA-6718-01 COSM5145138 c.452G>A p.R151Q Substitution - Missense 3:127923513-127923513 + TCGA-CG-5728-01 COSM4113219 c.1010C>T p.A337V Substitution - Missense 3:127924071-127924071 + 2492703 COSM1037955 c.917G>A p.R306Q Substitution - Missense 3:127923978-127923978 + TCGA-FW-A3R5-06 COSM3914849 c.149C>T p.A50V Substitution - Missense 3:127923210-127923210 + TCGA-AM-5821-01 COSM1418734 c.64C>A p.Q22K Substitution - Missense 3:127923125-127923125 + TCGA-AX-A05Z-01 COSM1037953 c.875G>T p.R292M Substitution - Missense 3:127923936-127923936 + TCGA-BR-4184-01 COSM4113220 c.1279G>A p.A427T Substitution - Missense 3:127927972-127927972 + TCGA-EE-A183-06 COSM3587060 c.962G>A p.G321E Substitution - Missense 3:127924023-127924023 + RH30SJ_ COSM3059366 c.478T>C p.F160L Substitution - Missense 3:127923539-127923539 + TCGA-14-0817 COSM2154829 c.1635C>T p.T545T Substitution - coding silent 3:127963331-127963331 + TCGA-EW-A1IZ-01 COSM1484568 c.352_353insGT p.Q121fs*5 Insertion - Frameshift 3:127923413-127923414 + T30 COSM5344337 c.538C>T p.L180F Substitution - Missense 3:127923599-127923599 + SNUH_G26_S1 COSM3759707 c.910G>C p.V304L Substitution - Missense 3:127923971-127923971 + 2492701 COSM1037955 c.917G>A p.R306Q Substitution - Missense 3:127923978-127923978 + TCGA-F5-6814-01 COSM3427010 c.1741A>C p.N581H Substitution - Missense 3:127984147-127984147 + CN-AML-08-T COSM1418735 c.64C>A p.Q22K Substitution - Missense 3:127923125-127923125 + TCGA-BH-A18G-01 COSM3846133 c.1424G>A p.R475Q Substitution - Missense 3:127930215-127930215 + HX34T COSM3660169 c.1607C>T p.P536L Substitution - Missense 3:127963303-127963303 + C086 COSM4394780 c.1532G>A p.R511Q Substitution - Missense 3:127963228-127963228 + PT46 COSM5928491 c.1583G>C p.R528P Substitution - Missense 3:127963279-127963279 + RK101_C01 COSM3702302 c.1691-10T>G p.? Unknown 3:127984087-127984087 + HCC174 COSM3660168 c.1264C>T p.L422F Substitution - Missense 3:127927957-127927957 + YUKAT COSM5398092 c.18G>A p.E6E Substitution - coding silent 3:127923079-127923079 + 587342 COSM1211367 c.961G>T p.G321* Substitution - Nonsense 3:127924022-127924022 + TCGA-HC-A6AQ-01 COSM3783652 c.1146T>C p.S382S Substitution - coding silent 3:127927839-127927839 + TCGA-AY-6197-01 COSM5136683 c.551A>G p.D184G Substitution - Missense 3:127923612-127923612 + 1_RESISTANT COSM1719203 c.1169T>C p.I390T Substitution - Missense 3:127927862-127927862 + SNUH_G10_S1 COSM3759707 c.910G>C p.V304L Substitution - Missense 3:127923971-127923971 + CN-AML-NR-08-Dx COSM1418734 c.64C>A p.Q22K Substitution - Missense 3:127923125-127923125 + 2492703 COSM3587065 c.1572G>A p.G524G Substitution - coding silent 3:127963268-127963268 + TCGA-AP-A056-01 COSM1037944 c.457A>T p.K153* Substitution - Nonsense 3:127923518-127923518 + TCGA-AM-5821-01 COSM1418735 c.64C>A p.Q22K Substitution - Missense 3:127923125-127923125 + TCGA-FS-A1ZK-06 COSM3587048 c.683C>T p.S228F Substitution - Missense 3:127923744-127923744 + CHC1148T COSM4954640 c.90G>C p.M30I Substitution - Missense 3:127923151-127923151 + TCGA-ED-A4XI-01 COSM4913206 c.565T>A p.S189T Substitution - Missense 3:127923626-127923626 + TCGA-AA-3833-01 COSM271325 c.948C>T p.Y316Y Substitution - coding silent 3:127924009-127924009 + TCGA-EE-A3JD-06 COSM4394780 c.1532G>A p.R511Q Substitution - Missense 3:127963228-127963228 + 2492708 COSM5601666 c.1693C>T p.R565C Substitution - Missense 3:127984099-127984099 + LUAD-B00416 COSM331347 c.1693C>A p.R565S Substitution - Missense 3:127984099-127984099 + YUKAT COSM5398094 c.619G>A p.E207K Substitution - Missense 3:127923680-127923680 + 2492709 COSM5601666 c.1693C>T p.R565C Substitution - Missense 3:127984099-127984099 + CSCC-15-T COSM4565441 c.209_210GG>AA p.R70K Substitution - Missense 3:127923270-127923271 + TCGA-FS-A4F5-06 COSM3587055 c.918G>A p.R306R Substitution - coding silent 3:127923979-127923979 + TCGA-BS-A0UV-01 COSM1037948 c.619G>T p.E207* Substitution - Nonsense 3:127923680-127923680 + TCGA-EE-A3AA-06 COSM3587059 c.940C>T p.P314S Substitution - Missense 3:127924001-127924001 + TCGA-AC-A3OD-01 COSM3846134 c.1486G>A p.V496I Substitution - Missense 3:127930277-127930277 + Au9 COSM5607457 c.372G>A p.M124I Substitution - Missense 3:127923433-127923433 + PCA89-1 COSM5415461 c.567C>A p.S189S Substitution - coding silent 3:127923628-127923628 + ATL039 COSM5708457 c.375G>A p.M125I Substitution - Missense 3:127923436-127923436 + CSCC-15-T COSM4565440 c.209_210GG>AA p.R70K Substitution - Missense 3:127923270-127923271 + ACINAR28 COSM1733099 c.1211A>G p.N404S Substitution - Missense 3:127927904-127927904 + 2492703 COSM1037954 c.917G>A p.R306Q Substitution - Missense 3:127923978-127923978 + ATL060 COSM5708456 c.200G>T p.C67F Substitution - Missense 3:127923261-127923261 + SNUH_G26_S1 COSM3759708 c.910G>C p.V304L Substitution - Missense 3:127923971-127923971 + 35M COSM4595769 c.679C>T p.P227S Substitution - Missense 3:127923740-127923740 + TCGA-AD-A5EJ-01 COSM5133643 c.1833C>A p.P611P Substitution - coding silent 3:127984239-127984239 + 2492700 COSM3587065 c.1572G>A p.G524G Substitution - coding silent 3:127963268-127963268 + TCGA-AA-3510-01 COSM1418736 c.226G>T p.D76Y Substitution - Missense 3:127923287-127923287 + TCGA-FW-A3R5-06 COSM3914850 c.149C>T p.A50V Substitution - Missense 3:127923210-127923210 + Au9 COSM5607456 c.372G>A p.M124I Substitution - Missense 3:127923433-127923433 + 6115115 COSM5344339 c.916C>T p.R306W Substitution - Missense 3:127923977-127923977 + 587342 COSM1211368 c.961G>T p.G321* Substitution - Nonsense 3:127924022-127924022 + T30 COSM5344336 c.538C>T p.L180F Substitution - Missense 3:127923599-127923599 + 8066479 COSM3784303 c.255A>G p.L85L Substitution - coding silent 3:127923316-127923316 + S00825 COSM5659228 c.129T>A p.P43P Substitution - coding silent 3:127923190-127923190 + TCGA-21-1070-01 COSM727609 c.1360G>A p.E454K Substitution - Missense 3:127930151-127930151 + TCGA-RC-A7SK-01 COSM4918564 c.1720T>C p.L574L Substitution - coding silent 3:127984126-127984126 + TCGA-EE-A3AF-06 COSM3587069 c.1843G>A p.D615N Substitution - Missense 3:127984249-127984249 + TCGA-AM-5821-01 COSM3759708 c.910G>C p.V304L Substitution - Missense 3:127923971-127923971 + TCGA-BH-A42V-01 COSM3846129 c.249G>A p.S83S Substitution - coding silent 3:127923310-127923310 + TCGA-EE-A29E-06 COSM3587067 c.1710C>T p.S570S Substitution - coding silent 3:127984116-127984116 + BD121T COSM4817845 c.1812G>A p.M604I Substitution - Missense 3:127984218-127984218 + TCGA-14-0817-01 COSM2154829 c.1635C>T p.T545T Substitution - coding silent 3:127963331-127963331 + CSCC-56-T COSM4479382 c.231C>T p.I77I Substitution - coding silent 3:127923292-127923292 + ESO-859 COSM1239184 c.1621C>T p.R541C Substitution - Missense 3:127963317-127963317 + TCGA-EE-A2GR-06 COSM3587047 c.585G>A p.L195L Substitution - coding silent 3:127923646-127923646 + Au3 COSM5601666 c.1693C>T p.R565C Substitution - Missense 3:127984099-127984099 + TCGA-AA-A010-01 COSM282056 c.1065T>A p.I355I Substitution - coding silent 3:127924126-127924126 + TCGA-EJ-7781-01 COSM271326 c.948C>T p.Y316Y Substitution - coding silent 3:127924009-127924009 + 6115115 COSM5344338 c.916C>T p.R306W Substitution - Missense 3:127923977-127923977 + TCGA-HM-A4S6-01 COSM4854997 c.1060G>C p.E354Q Substitution - Missense 3:127924121-127924121 + TCGA-AC-A23H-01 COSM3846131 c.866C>G p.S289* Substitution - Nonsense 3:127923927-127923927 + TCGA-D5-6530-01 COSM1418741 c.1830delC p.P612fs*>12 Deletion - Frameshift 3:127984236-127984236 + TCGA-D1-A176-01 COSM1037943 c.101T>C p.V34A Substitution - Missense 3:127923162-127923162 + Au1 COSM5596896 c.766G>A p.A256T Substitution - Missense 3:127923827-127923827 + TCGA-RP-A695-06 COSM4896071 c.127C>T p.P43S Substitution - Missense 3:127923188-127923188 + TCGA-EE-A20C-06 COSM3587063 c.1140G>A p.L380L Substitution - coding silent 3:127927833-127927833 + TCGA-CC-A7IH-01 COSM4924375 c.892A>T p.S298C Substitution - Missense 3:127923953-127923953 + TCGA-EW-A1IZ-01 COSM1484569 c.352_353insGT p.Q121fs*5 Insertion - Frameshift 3:127923413-127923414 + TCGA-AA-A010-01 COSM282054 c.98T>C p.V33A Substitution - Missense 3:127923159-127923159 + PCA89-1 COSM5415460 c.567C>A p.S189S Substitution - coding silent 3:127923628-127923628 + RMS106_ COSM4986561 c.1137T>G p.A379A Substitution - coding silent 3:127927830-127927830 + TCGA-ER-A194-01 COSM3587062 c.1114G>A p.A372T Substitution - Missense 3:127927807-127927807 + KYSE110 COSM5049438 c.1232T>C p.V411A Substitution - Missense 3:127927925-127927925 + CSCC-6-T COSM4522835 c.1182G>A p.M394I Substitution - Missense 3:127927875-127927875 + CSCC-19-T COSM4469421 c.159C>T p.S53S Substitution - coding silent 3:127923220-127923220 + TCGA-EE-A3JE-06 COSM3914851 c.158G>T p.S53I Substitution - Missense 3:127923219-127923219 + 40M COSM228940 c.451C>T p.R151* Substitution - Nonsense 3:127923512-127923512 + TCGA-D1-A176-01 COSM1037942 c.101T>C p.V34A Substitution - Missense 3:127923162-127923162 + SW48 COSM3059364 c.466T>A p.L156I Substitution - Missense 3:127923527-127923527 + TCGA-AA-3715-01 COSM269413 c.8G>A p.C3Y Substitution - Missense 3:127923069-127923069 + 2334188 COSM321098 c.353G>C p.S118T Substitution - Missense 3:127923414-127923414 + TCGA-G3-A25U-01 COSM4911113 c.1565C>A p.P522Q Substitution - Missense 3:127963261-127963261 + TCGA-AP-A051-01 COSM1037957 c.1694G>A p.R565H Substitution - Missense 3:127984100-127984100 + RKO COSM3059396 c.1155T>G p.N385K Substitution - Missense 3:127927848-127927848 + 2334188 COSM321099 c.353G>C p.S118T Substitution - Missense 3:127923414-127923414 + ATL039 COSM5708458 c.375G>A p.M125I Substitution - Missense 3:127923436-127923436 + CSCC-49-T COSM4572122 c.650T>C p.L217S Substitution - Missense 3:127923711-127923711 + CHC1148T COSM4954639 c.90G>C p.M30I Substitution - Missense 3:127923151-127923151 + BD35T COSM5520124 c.1126G>A p.E376K Substitution - Missense 3:127927819-127927819 + TCGA-AP-A059-01 COSM1037946 c.491G>T p.S164I Substitution - Missense 3:127923552-127923552 + NOKSI COSM4595769 c.679C>T p.P227S Substitution - Missense 3:127923740-127923740 + 2492702 COSM1037955 c.917G>A p.R306Q Substitution - Missense 3:127923978-127923978 + 433 COSM4433681 c.426G>C p.Q142H Substitution - Missense 3:127923487-127923487 + 2492701 COSM3587065 c.1572G>A p.G524G Substitution - coding silent 3:127963268-127963268 + PT20_1 COSM1693434 c.1085G>A p.G362E Substitution - Missense 3:127927778-127927778 + SW48 COSM3059365 c.466T>A p.L156I Substitution - Missense 3:127923527-127923527 + TCGA-BH-A42V-01 COSM3846130 c.249G>A p.S83S Substitution - coding silent 3:127923310-127923310 + YUKAT COSM5398093 c.18G>A p.E6E Substitution - coding silent 3:127923079-127923079 + TCGA-AM-5821-01 COSM3759707 c.910G>C p.V304L Substitution - Missense 3:127923971-127923971 + 433 COSM4433680 c.426G>C p.Q142H Substitution - Missense 3:127923487-127923487 + T207 COSM4694109 c.1157A>G p.D386G Substitution - Missense 3:127927850-127927850 + TCGA-AX-A05Z-01 COSM1037952 c.875G>T p.R292M Substitution - Missense 3:127923936-127923936 + YUDUTY COSM1693434 c.1085G>A p.G362E Substitution - Missense 3:127927778-127927778 + TCGA-A6-3809-01 COSM1418739 c.1438T>C p.Y480H Substitution - Missense 3:127930229-127930229 + TCGA-EE-A3JA-06 COSM3587053 c.876G>A p.R292R Substitution - coding silent 3:127923937-127923937 + 2492702 COSM1037954 c.917G>A p.R306Q Substitution - Missense 3:127923978-127923978 + TCGA-RP-A695-06 COSM4896070 c.127C>T p.P43S Substitution - Missense 3:127923188-127923188 + CN-AML-08-T COSM1418734 c.64C>A p.Q22K Substitution - Missense 3:127923125-127923125 + TCGA-EE-A3JE-06 COSM3914852 c.158G>T p.S53I Substitution - Missense 3:127923219-127923219 + TCGA-EE-A3JD-06 COSM4397570 c.1248G>A p.W416* Substitution - Nonsense 3:127927941-127927941 + TCGA-CC-A7IH-01 COSM4924376 c.892A>T p.S298C Substitution - Missense 3:127923953-127923953 + TCGA-HU-A4G9-01 COSM4113217 c.162T>A p.P54P Substitution - coding silent 3:127923223-127923223 + 2492700 COSM1037954 c.917G>A p.R306Q Substitution - Missense 3:127923978-127923978 + TCGA-EE-A3AB-06 COSM3587057 c.925T>C p.Y309H Substitution - Missense 3:127923986-127923986 + T33 COSM5344338 c.916C>T p.R306W Substitution - Missense 3:127923977-127923977 + TCGA-EB-A431-01 COSM3587066 c.1631C>T p.S544F Substitution - Missense 3:127963327-127963327 + TCGA-AC-A23H-01 COSM3846132 c.866C>G p.S289* Substitution - Nonsense 3:127923927-127923927 + 01-P8014 COSM4583905 c.1781A>G p.D594G Substitution - Missense 3:127984187-127984187 + TCGA-EE-A3AB-06 COSM3587056 c.925T>C p.Y309H Substitution - Missense 3:127923986-127923986 + TCGA-CG-5728-01 COSM4113218 c.1010C>T p.A337V Substitution - Missense 3:127924071-127924071 + CHC1148T COSM4954640 c.90G>C p.M30I Substitution - Missense 3:127923151-127923151 + YURAY COSM4896071 c.127C>T p.P43S Substitution - Missense 3:127923188-127923188 + DLD1 COSM4624947 c.1688C>T p.A563V Substitution - Missense 3:127963384-127963384 + Au2 COSM1037955 c.917G>A p.R306Q Substitution - Missense 3:127923978-127923978 + CHC205T COSM1418735 c.64C>A p.Q22K Substitution - Missense 3:127923125-127923125 + TCGA-IR-A3LK-01 COSM4817845 c.1812G>A p.M604I Substitution - Missense 3:127984218-127984218 + 19 COSM1418741 c.1830delC p.P612fs*>12 Deletion - Frameshift 3:127984236-127984236 + TCGA-18-3406-01 COSM727608 c.1463C>G p.A488G Substitution - Missense 3:127930254-127930254 + CSCC-56-T COSM4531087 c.1759G>A p.A587T Substitution - Missense 3:127984165-127984165 + TCGA-AG-A002-01 COSM261484 c.569G>T p.R190I Substitution - Missense 3:127923630-127923630 + CSCC-56-T COSM4530738 c.1723G>A p.E575K Substitution - Missense 3:127984129-127984129 + TCGA-AG-A002-01 COSM261485 c.569G>T p.R190I Substitution - Missense 3:127923630-127923630 + TCGA-C5-A1MK-01 COSM4826797 c.771C>T p.I257I Substitution - coding silent 3:127923832-127923832 + TCGA-AG-A002-01 COSM261486 c.1123C>T p.R375* Substitution - Nonsense 3:127927816-127927816 + TCGA-AP-A059-01 COSM1037947 c.491G>T p.S164I Substitution - Missense 3:127923552-127923552 + TCGA-HU-A4G9-01 COSM4113216 c.162T>A p.P54P Substitution - coding silent 3:127923223-127923223 + TCGA-25-2391-01 COSM115856 c.863G>C p.R288T Substitution - Missense 3:127923924-127923924 + TCGA-BS-A0UV-01 COSM1037940 c.71T>C p.M24T Substitution - Missense 3:127923132-127923132 + YURAY COSM4896070 c.127C>T p.P43S Substitution - Missense 3:127923188-127923188 + TCGA-EE-A183-06 COSM3587061 c.962G>A p.G321E Substitution - Missense 3:127924023-127924023 + Au8 COSM5606650 c.336G>T p.Q112H Substitution - Missense 3:127923397-127923397 + sysucc-1397T COSM5474545 c.1257G>A p.V419V Substitution - coding silent 3:127927950-127927950 + Au2 COSM1037954 c.917G>A p.R306Q Substitution - Missense 3:127923978-127923978 + TCGA-B0-4836-01 COSM3364982 c.930C>G p.F310L Substitution - Missense 3:127923991-127923991 + PT38 COSM5922341 c.1132T>C p.Y378H Substitution - Missense 3:127927825-127927825 + TCGA-EE-A2MR-06 COSM3587068 c.1732C>T p.P578S Substitution - Missense 3:127984138-127984138 + 8066479 COSM3784304 c.255A>G p.L85L Substitution - coding silent 3:127923316-127923316 + TCGA-ED-A4XI-01 COSM4913207 c.565T>A p.S189T Substitution - Missense 3:127923626-127923626 + ME044T COSM228940 c.451C>T p.R151* Substitution - Nonsense 3:127923512-127923512 + TCGA-AA-3510-01 COSM1418737 c.226G>T p.D76Y Substitution - Missense 3:127923287-127923287 + ATL060 COSM5708455 c.200G>T p.C67F Substitution - Missense 3:127923261-127923261 + 2492701 COSM1037954 c.917G>A p.R306Q Substitution - Missense 3:127923978-127923978 + TCGA-B5-A11E-01 COSM1037955 c.917G>A p.R306Q Substitution - Missense 3:127923978-127923978 + NOKSI COSM4595770 c.679C>T p.P227S Substitution - Missense 3:127923740-127923740 + S02293 COSM3059393 c.1133A>G p.Y378C Substitution - Missense 3:127927826-127927826 + VACO10 COSM4656960 c.1094T>C p.F365S Substitution - Missense 3:127927787-127927787 + BZ04 COSM5757894 c.1736G>T p.W579L Substitution - Missense 3:127984142-127984142 + 587222 COSM1211366 c.1183A>G p.K395E Substitution - Missense 3:127927876-127927876 + TCGA-13-0791-01 COSM86753 c.1671C>T p.C557C Substitution - coding silent 3:127963367-127963367 + TCGA-FW-A3R5-06 COSM1693434 c.1085G>A p.G362E Substitution - Missense 3:127927778-127927778 + TCGA-AC-A3OD-01 COSM3846135 c.1489T>C p.L497L Substitution - coding silent 3:127930280-127930280 + ESCC-D13 COSM5045319 c.640G>C p.V214L Substitution - Missense 3:127923701-127923701 + TCGA-EE-A2GR-06 COSM3587046 c.585G>A p.L195L Substitution - coding silent 3:127923646-127923646 + Au8 COSM5606651 c.336G>T p.Q112H Substitution - Missense 3:127923397-127923397 + HCC174T COSM3660168 c.1264C>T p.L422F Substitution - Missense 3:127927957-127927957 + YUKAT COSM5398095 c.619G>A p.E207K Substitution - Missense 3:127923680-127923680 + CHC205T COSM1418734 c.64C>A p.Q22K Substitution - Missense 3:127923125-127923125 + Au2 COSM3587065 c.1572G>A p.G524G Substitution - coding silent 3:127963268-127963268 + Pat_34_A COSM5863426 c.1748_1749GG>AA p.W583* Substitution - Nonsense 3:127984154-127984155 + TCGA-EE-A20C-06 COSM3587065 c.1572G>A p.G524G Substitution - coding silent 3:127963268-127963268 + TCGA-AA-3715-01 COSM269412 c.8G>A p.C3Y Substitution - Missense 3:127923069-127923069 + CHC1148T COSM4954639 c.90G>C p.M30I Substitution - Missense 3:127923151-127923151 + B22-Tumor COSM4005250 c.137G>A p.R46K Substitution - Missense 3:127923198-127923198 + HN_62415 COSM128272 c.975T>G p.T325T Substitution - coding silent 3:127924036-127924036 + TCGA-C5-A1MK-01 COSM4826798 c.771C>T p.I257I Substitution - coding silent 3:127923832-127923832 + TCGA-AA-A010-01 COSM282055 c.98T>C p.V33A Substitution - Missense 3:127923159-127923159 + 18 COSM1418741 c.1830delC p.P612fs*>12 Deletion - Frameshift 3:127984236-127984236 + TCGA-BS-A0UV-01 COSM1037951 c.791C>A p.S264Y Substitution - Missense 3:127923852-127923852 + TCGA-FS-A4F5-06 COSM3587054 c.918G>A p.R306R Substitution - coding silent 3:127923979-127923979 + 587300 COSM1211365 c.1681C>A p.H561N Substitution - Missense 3:127963377-127963377 + TCGA-F5-6814-01 COSM3427009 c.1199A>G p.Y400C Substitution - Missense 3:127927892-127927892 + TCGA-85-6561-01 COSM727610 c.1131C>A p.L377L Substitution - coding silent 3:127927824-127927824 + 587376 COSM1211369 c.76G>T p.E26* Substitution - Nonsense 3:127923137-127923137 + YUGOE COSM261486 c.1123C>T p.R375* Substitution - Nonsense 3:127927816-127927816 + CSCC-49-T COSM4572121 c.650T>C p.L217S Substitution - Missense 3:127923711-127923711 + RH30SJ_ COSM3059367 c.478T>C p.F160L Substitution - Missense 3:127923539-127923539 + HCC2998 COSM3059401 c.1310A>C p.K437T Substitution - Missense 3:127928003-127928003 + 1_PRE-TREATMENT COSM1719203 c.1169T>C p.I390T Substitution - Missense 3:127927862-127927862 + RK111_C01 COSM3767233 c.1098G>A p.W366* Substitution - Nonsense 3:127927791-127927791 + SNUH_G10_S1 COSM3759708 c.910G>C p.V304L Substitution - Missense 3:127923971-127923971 + TCGA-AP-A0LM-01 COSM1037956 c.1276T>G p.L426V Substitution - Missense 3:127927969-127927969 + TCGA-Q1-A73Q-01 COSM4850996 c.1416G>T p.W472C Substitution - Missense 3:127930207-127930207 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.132050;Hs.132056;Hs.132065;Hs.132067;Hs.132087 3q21.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.V202V c.606A>G 3 127642510 CM - A IntronicInsertion . c.1-4337dupA 3 127637555 CM C A Synonymous p.L377L c.1131C>A 3 127646667 LUSC C - Frameshift p.D515Tfs*72 c.1540delC 3 127682078 CM C G Missense p.A488G c.1463C>G 3 127649097 LUSC C G Missense p.F310L c.930C>G 3 127642834 RCCC C T 3-UTRSNV . c.1869+1696C>T 3 127704814 DLBCL C T Missense p.A337V c.1010C>T 3 127642914 STAD C T Missense p.P314S c.940C>T 3 127642844 CM C T Missense p.P421S c.1261C>T 3 127646797 CM C T Missense p.P43S c.127C>T 3 127642031 CM C T Missense p.P612L c.1835C>T 3 127703084 HNSC C T Missense p.R541C c.1621C>T 3 127682160 ESCA C T Missense p.S228F c.683C>T 3 127642587 CM C T Nonsense p.Q251* c.751C>T 3 127642655 CM C T Synonymous p.C557C c.1671C>T 3 127682210 OV C T Synonymous p.I172I c.516C>T 3 127642420 CM C T Synonymous p.T545T c.1635C>T 3 127682174 GBM C T Synonymous p.Y316Y c.948C>T 3 127642852 PRAD G A Missense p.A372T c.1114G>A 3 127646650 CM G A Missense p.D615N c.1843G>A 3 127703092 CM G A Missense p.E454K c.1360G>A 3 127648994 LUSC G A Missense p.G321E c.962G>A 3 127642866 CM G A Missense p.M394I c.1182G>A 3 127646718 HNSC G A Missense p.M478I c.1434G>A 3 127649068 CM G A Missense p.R511Q c.1532G>A 3 127682071 CM G A Nonsense p.W416* c.1248G>A 3 127646784 CM G A Nonsense p.W444* c.1331G>A 3 127646867 CM G A Synonymous p.G524G c.1572G>A 3 127682111 CM G A Synonymous p.K351K c.1053G>A 3 127642957 HNSC G A Synonymous p.L195L c.585G>A 3 127642489 CM G A Synonymous p.L380L c.1140G>A 3 127646676 CM G A Synonymous p.R292R c.876G>A 3 127642780 CM G C Missense p.R288T c.863G>C 3 127642767 OV G C Missense p.S118T c.353G>C 3 127642257 SCLC G T Missense p.S53I c.158G>T 3 127642062 CM T C Missense p.V34A c.101T>C 3 127642005 UCEC T C Missense p.Y309H c.925T>C 3 127642829 CM T C Synonymous p.S382S c.1146T>C 3 127646682 PRAD T G Synonymous p.T325T c.975T>G 3 127642879 HNSC