Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 17 78599562 78599562 + Silent SNP C C G TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr17:78599562C>G c.234C>G c.(232-234)acC>acG p.T78T ACC 17 78933974 78933974 + Missense_Mutation SNP G G A TCGA-OR-A5LB-01A-11D-A29I-10 TCGA-OR-A5LB-10A-01D-A29L-10 g.chr17:78933974G>A c.3574G>A c.(3574-3576)Gtc>Atc p.V1192I BLCA 17 78519457 78519457 + Missense_Mutation SNP C C T TCGA-ZF-A9RG-01A-21D-A42E-08 TCGA-ZF-A9RG-10A-01D-A42H-08 g.chr17:78519457C>T c.28C>T c.(28-30)Ctt>Ttt p.L10F BLCA 17 78519460 78519460 + Missense_Mutation SNP C C A TCGA-ZF-A9RG-01A-21D-A42E-08 TCGA-ZF-A9RG-10A-01D-A42H-08 g.chr17:78519460C>A c.31C>A c.(31-33)Ctg>Atg p.L11M BLCA 17 78519560 78519560 + Missense_Mutation SNP C C G TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 g.chr17:78519560C>G c.131C>G c.(130-132)tCc>tGc p.S44C BLCA 17 78704387 78704387 + Missense_Mutation SNP A A G TCGA-2F-A9KQ-01A-11D-A38G-08 TCGA-2F-A9KQ-11A-11D-A38J-08 g.chr17:78704387A>G c.535A>G c.(535-537)Ata>Gta p.I179V BLCA 17 78704398 78704398 + Silent SNP G G A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 g.chr17:78704398G>A c.546G>A c.(544-546)ctG>ctA p.L182L BLCA 17 78796025 78796025 + Missense_Mutation SNP G G T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 g.chr17:78796025G>T c.915G>T c.(913-915)agG>agT p.R305S BLCA 17 78796046 78796046 + Silent SNP G G A TCGA-5N-A9KI-01A-31D-A42E-08 TCGA-5N-A9KI-10A-01D-A42H-08 g.chr17:78796046G>A c.936G>A c.(934-936)ctG>ctA p.L312L BLCA 17 78796930 78796930 + Missense_Mutation SNP G G C TCGA-GU-A767-01A-11D-A32B-08 TCGA-GU-A767-10A-01D-A329-08 g.chr17:78796930G>C c.1043G>C c.(1042-1044)cGa>cCa p.R348P BLCA 17 78865558 78865558 + Nonsense_Mutation SNP T T A TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr17:78865558T>A c.2022T>A c.(2020-2022)taT>taA p.Y674* BLCA 17 78865582 78865582 + Silent SNP C C A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 g.chr17:78865582C>A c.2046C>A c.(2044-2046)gcC>gcA p.A682A BLCA 17 78867587 78867587 + Missense_Mutation SNP G G A TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr17:78867587G>A c.2323G>A c.(2323-2325)Gag>Aag p.E775K BLCA 17 78882639 78882639 + Missense_Mutation SNP G G T TCGA-PQ-A6FI-01A-11D-A31L-08 TCGA-PQ-A6FI-10A-01D-A31J-08 g.chr17:78882639G>T c.2430G>T c.(2428-2430)caG>caT p.Q810H BLCA 17 78897445 78897445 + Missense_Mutation SNP G G T TCGA-E7-A5KF-01A-11D-A289-08 TCGA-E7-A5KF-10A-01D-A289-08 g.chr17:78897445G>T c.2780G>T c.(2779-2781)cGg>cTg p.R927L BLCA 17 78897446 78897446 + Silent SNP G G T TCGA-E7-A5KF-01A-11D-A289-08 TCGA-E7-A5KF-10A-01D-A289-08 g.chr17:78897446G>T c.2781G>T c.(2779-2781)cgG>cgT p.R927R BLCA 17 78923268 78923268 + Silent SNP G G A TCGA-GU-AATP-01A-11D-A391-08 TCGA-GU-AATP-10A-01D-A394-08 g.chr17:78923268G>A c.3291G>A c.(3289-3291)aaG>aaA p.K1097K BLCA 17 78933912 78933912 + Missense_Mutation SNP G G A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chr17:78933912G>A c.3512G>A c.(3511-3513)aGt>aAt p.S1171N BLCA 17 78933923 78933923 + Missense_Mutation SNP G G A TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr17:78933923G>A c.3523G>A c.(3523-3525)Gat>Aat p.D1175N BLCA 17 78935255 78935255 + Frame_Shift_Del DEL C C - TCGA-FD-A62O-01A-11D-A30E-08 TCGA-FD-A62O-10A-01D-A30H-08 g.chr17:78935255delC c.3667delC c.(3667-3669)cccfs p.P1223fs BLCA 17 78936369 78936369 + Silent SNP G G C TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 g.chr17:78936369G>C c.3801G>C c.(3799-3801)ctG>ctC p.L1267L BRCA 17 78704422 78704422 + Silent SNP G G T TCGA-E9-A1R7-01A-11D-A14K-09 TCGA-E9-A1R7-10A-01D-A14K-09 g.chr17:78704422G>T c.570G>T c.(568-570)tcG>tcT p.S190S BRCA 17 78796975 78796975 + Missense_Mutation SNP C C T TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr17:78796975C>T c.1088C>T c.(1087-1089)aCt>aTt p.T363I BRCA 17 78811744 78811744 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr17:78811744G>C c.1159G>C c.(1159-1161)Gac>Cac p.D387H BRCA 17 78811786 78811786 + Missense_Mutation SNP A A T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 g.chr17:78811786A>T c.1201A>T c.(1201-1203)Act>Tct p.T401S BRCA 17 78820339 78820339 + Nonsense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr17:78820339C>T c.1279C>T c.(1279-1281)Cga>Tga p.R427* BRCA 17 78831617 78831617 + Missense_Mutation SNP G G T TCGA-EW-A1PA-01A-11D-A142-09 TCGA-EW-A1PA-10A-01D-A142-09 g.chr17:78831617G>T c.1426G>T c.(1426-1428)Gtg>Ttg p.V476L BRCA 17 78865584 78865584 + Missense_Mutation SNP T T C TCGA-AC-A2FF-01A-11D-A17D-09 TCGA-AC-A2FF-11A-13D-A17D-09 g.chr17:78865584T>C c.2048T>C c.(2047-2049)cTg>cCg p.L683P BRCA 17 78867510 78867510 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr17:78867510G>T c.2246G>T c.(2245-2247)gGt>gTt p.G749V BRCA 17 78867561 78867561 + Missense_Mutation SNP G G C TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 g.chr17:78867561G>C c.2297G>C c.(2296-2298)aGc>aCc p.S766T BRCA 17 78897383 78897383 + Silent SNP G G A TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 g.chr17:78897383G>A c.2718G>A c.(2716-2718)ccG>ccA p.P906P BRCA 17 78923268 78923268 + Silent SNP G G A TCGA-A2-A0EY-01A-11W-A050-09 TCGA-A2-A0EY-10A-01W-A055-09 g.chr17:78923268G>A c.3291G>A c.(3289-3291)aaG>aaA p.K1097K BRCA 17 78931483 78931483 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr17:78931483G>A c.3430G>A c.(3430-3432)Gtg>Atg p.V1144M BRCA 17 78933918 78933918 + Frame_Shift_Del DEL C C - TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 g.chr17:78933918delC c.3518delC c.(3517-3519)tccfs p.S1173fs BRCA 17 78936301 78936301 + Missense_Mutation SNP G G A TCGA-E2-A2P6-01A-11D-A19Y-09 TCGA-E2-A2P6-10B-01D-A19Y-09 g.chr17:78936301G>A c.3733G>A c.(3733-3735)Gag>Aag p.E1245K CESC 17 78681708 78681708 + Missense_Mutation SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr17:78681708G>A c.416G>A c.(415-417)cGc>cAc p.R139H CESC 17 78796982 78796982 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr17:78796982C>T c.1095C>T c.(1093-1095)gtC>gtT p.V365V CESC 17 78796986 78796986 + Missense_Mutation SNP A A T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr17:78796986A>T c.1099A>T c.(1099-1101)Agc>Tgc p.S367C CESC 17 78857241 78857241 + Missense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 g.chr17:78857241C>T c.1607C>T c.(1606-1608)gCt>gTt p.A536V CESC 17 78858868 78858868 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr17:78858868G>A c.1903G>A c.(1903-1905)Gac>Aac p.D635N CESC 17 78866583 78866583 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr17:78866583C>T c.2156C>T c.(2155-2157)tCt>tTt p.S719F CHOL 17 78727809 78727809 + Splice_Site SNP G G T TCGA-YR-A95A-01A-12D-A417-09 TCGA-YR-A95A-10A-01D-A41A-09 g.chr17:78727809G>T c.e6-1 CHOL 17 78811735 78811735 + Missense_Mutation SNP C C A TCGA-3X-AAVB-01A-31D-A417-09 TCGA-3X-AAVB-10A-01D-A41A-09 g.chr17:78811735C>A c.1150C>A c.(1150-1152)Ctg>Atg p.L384M COAD 17 78519555 78519555 + Silent SNP C C T TCGA-AA-A00D-01A-01W-A005-10 TCGA-AA-A00D-10A-01W-A005-10 g.chr17:78519555C>T c.126C>T c.(124-126)tcC>tcT p.S42S COAD 17 78617543 78617543 + Missense_Mutation SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr17:78617543G>A c.281G>A c.(280-282)gGt>gAt p.G94D COAD 17 78681644 78681644 + Missense_Mutation SNP C C T TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr17:78681644C>T c.352C>T c.(352-354)Cgg>Tgg p.R118W COAD 17 78681705 78681705 + Missense_Mutation SNP G G A TCGA-A6-2677-01A-01W-0831-10 TCGA-A6-2677-10A-01W-0831-10 g.chr17:78681705G>A c.413G>A c.(412-414)cGt>cAt p.R138H COAD 17 78704430 78704430 + Missense_Mutation SNP T T C TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr17:78704430T>C c.578T>C c.(577-579)gTc>gCc p.V193A COAD 17 78796012 78796012 + Missense_Mutation SNP G G A TCGA-AA-A03F-01A-11W-A096-10 TCGA-AA-A03F-11A-12W-A096-10 g.chr17:78796012G>A c.902G>A c.(901-903)cGc>cAc p.R301H COAD 17 78796989 78796989 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr17:78796989C>T c.1102C>T c.(1102-1104)Ccg>Tcg p.P368S COAD 17 78854225 78854225 + Missense_Mutation SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr17:78854225C>T c.1520C>T c.(1519-1521)gCg>gTg p.A507V COAD 17 78857631 78857631 + Silent SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr17:78857631C>T c.1701C>T c.(1699-1701)aaC>aaT p.N567N COAD 17 78857651 78857651 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr17:78857651G>A c.1721G>A c.(1720-1722)cGc>cAc p.R574H COAD 17 78857694 78857694 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr17:78857694C>T c.1764C>T c.(1762-1764)ttC>ttT p.F588F COAD 17 78857732 78857732 + Missense_Mutation SNP A A G TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr17:78857732A>G c.1802A>G c.(1801-1803)cAt>cGt p.H601R COAD 17 78867580 78867580 + Silent SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr17:78867580C>T c.2316C>T c.(2314-2316)ccC>ccT p.P772P COAD 17 78867617 78867617 + Missense_Mutation SNP G G A TCGA-AA-A00U-01A-01W-A005-10 TCGA-AA-A00U-10A-01W-A005-10 g.chr17:78867617G>A c.2353G>A c.(2353-2355)Gac>Aac p.D785N COAD 17 78882646 78882646 + Missense_Mutation SNP A A G TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr17:78882646A>G c.2437A>G c.(2437-2439)Aga>Gga p.R813G COAD 17 78882647 78882647 + Missense_Mutation SNP G G T TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr17:78882647G>T c.2438G>T c.(2437-2439)aGa>aTa p.R813I COAD 17 78882648 78882648 + Silent SNP A A G TCGA-CM-6170-01A-11D-1650-10 TCGA-CM-6170-10A-01D-1650-10 g.chr17:78882648A>G c.2439A>G c.(2437-2439)agA>agG p.R813R COAD 17 78899218 78899218 + Missense_Mutation SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr17:78899218G>A c.2857G>A c.(2857-2859)Gcc>Acc p.A953T COAD 17 78899222 78899222 + Missense_Mutation SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr17:78899222C>T c.2861C>T c.(2860-2862)aCg>aTg p.T954M COAD 17 78899240 78899240 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr17:78899240G>A c.2879G>A c.(2878-2880)tGc>tAc p.C960Y COAD 17 78914365 78914365 + Missense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr17:78914365C>T c.2989C>T c.(2989-2991)Cgt>Tgt p.R997C COAD 17 78914375 78914375 + Missense_Mutation SNP G G T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr17:78914375G>T c.2999G>T c.(2998-3000)aGg>aTg p.R1000M COAD 17 78919564 78919564 + Silent SNP C C T TCGA-AA-3955-01A-02W-0995-10 TCGA-AA-3955-10A-01W-0995-10 g.chr17:78919564C>T c.3123C>T c.(3121-3123)gcC>gcT p.A1041A COAD 17 78921117 78921117 + Silent SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr17:78921117C>T c.3231C>T c.(3229-3231)aaC>aaT p.N1077N COAD 17 78923327 78923327 + Missense_Mutation SNP A A G TCGA-AD-6965-01A-11D-1924-10 TCGA-AD-6965-10A-01D-1924-10 g.chr17:78923327A>G c.3350A>G c.(3349-3351)gAc>gGc p.D1117G COAD 17 78931502 78931502 + Nonsense_Mutation SNP G G A TCGA-D5-6931-01A-11D-1924-10 TCGA-D5-6931-10A-01D-1924-10 g.chr17:78931502G>A c.3449G>A c.(3448-3450)tGg>tAg p.W1150* COAD 17 78935253 78935253 + Missense_Mutation SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr17:78935253G>A c.3665G>A c.(3664-3666)cGt>cAt p.R1222H COAD 17 78936325 78936325 + Missense_Mutation SNP G G C TCGA-DM-A1D9-01A-11D-A152-10 TCGA-DM-A1D9-10A-01D-A152-10 g.chr17:78936325G>C c.3757G>C c.(3757-3759)Gtg>Ctg p.V1253L COADREAD 17 78519555 78519555 + Silent SNP C C T TCGA-AA-A00D-01A-01W-A005-10 TCGA-AA-A00D-10A-01W-A005-10 g.chr17:78519555C>T c.126C>T c.(124-126)tcC>tcT p.S42S COADREAD 17 78617543 78617543 + Missense_Mutation SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr17:78617543G>A c.281G>A c.(280-282)gGt>gAt p.G94D COADREAD 17 78681644 78681644 + Missense_Mutation SNP C C T TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr17:78681644C>T c.352C>T c.(352-354)Cgg>Tgg p.R118W COADREAD 17 78681705 78681705 + Missense_Mutation SNP G G A TCGA-A6-2677-01A-01W-0831-10 TCGA-A6-2677-10A-01W-0831-10 g.chr17:78681705G>A c.413G>A c.(412-414)cGt>cAt p.R138H COADREAD 17 78704377 78704377 + Silent SNP C C T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr17:78704377C>T c.525C>T c.(523-525)atC>atT p.I175I COADREAD 17 78704430 78704430 + Missense_Mutation SNP T T C TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr17:78704430T>C c.578T>C c.(577-579)gTc>gCc p.V193A COADREAD 17 78796012 78796012 + Missense_Mutation SNP G G A TCGA-AA-A03F-01A-11W-A096-10 TCGA-AA-A03F-11A-12W-A096-10 g.chr17:78796012G>A c.902G>A c.(901-903)cGc>cAc p.R301H COADREAD 17 78796989 78796989 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr17:78796989C>T c.1102C>T c.(1102-1104)Ccg>Tcg p.P368S COADREAD 17 78854225 78854225 + Missense_Mutation SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr17:78854225C>T c.1520C>T c.(1519-1521)gCg>gTg p.A507V COADREAD 17 78857615 78857615 + Missense_Mutation SNP G G T TCGA-DY-A1DF-01A-11D-A152-10 TCGA-DY-A1DF-10A-01D-A152-10 g.chr17:78857615G>T c.1685G>T c.(1684-1686)tGc>tTc p.C562F COADREAD 17 78857631 78857631 + Silent SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr17:78857631C>T c.1701C>T c.(1699-1701)aaC>aaT p.N567N COADREAD 17 78857651 78857651 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr17:78857651G>A c.1721G>A c.(1720-1722)cGc>cAc p.R574H COADREAD 17 78857694 78857694 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr17:78857694C>T c.1764C>T c.(1762-1764)ttC>ttT p.F588F COADREAD 17 78857732 78857732 + Missense_Mutation SNP A A G TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr17:78857732A>G c.1802A>G c.(1801-1803)cAt>cGt p.H601R COADREAD 17 78858821 78858821 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr17:78858821C>T c.1856C>T c.(1855-1857)gCg>gTg p.A619V COADREAD 17 78866640 78866640 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:78866640C>A c.2213C>A c.(2212-2214)tCt>tAt p.S738Y COADREAD 17 78867580 78867580 + Silent SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr17:78867580C>T c.2316C>T c.(2314-2316)ccC>ccT p.P772P COADREAD 17 78867617 78867617 + Missense_Mutation SNP G G A TCGA-AA-A00U-01A-01W-A005-10 TCGA-AA-A00U-10A-01W-A005-10 g.chr17:78867617G>A c.2353G>A c.(2353-2355)Gac>Aac p.D785N COADREAD 17 78882646 78882646 + Missense_Mutation SNP A A G TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr17:78882646A>G c.2437A>G c.(2437-2439)Aga>Gga p.R813G COADREAD 17 78882647 78882647 + Missense_Mutation SNP G G T TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr17:78882647G>T c.2438G>T c.(2437-2439)aGa>aTa p.R813I COADREAD 17 78882647 78882647 + Missense_Mutation SNP G G T TCGA-F5-6571-01A-12D-1826-10 TCGA-F5-6571-10A-01D-1826-10 g.chr17:78882647G>T c.2438G>T c.(2437-2439)aGa>aTa p.R813I COADREAD 17 78882648 78882648 + Silent SNP A A G TCGA-CM-6170-01A-11D-1650-10 TCGA-CM-6170-10A-01D-1650-10 g.chr17:78882648A>G c.2439A>G c.(2437-2439)agA>agG p.R813R COADREAD 17 78899218 78899218 + Missense_Mutation SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr17:78899218G>A c.2857G>A c.(2857-2859)Gcc>Acc p.A953T COADREAD 17 78899222 78899222 + Missense_Mutation SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr17:78899222C>T c.2861C>T c.(2860-2862)aCg>aTg p.T954M COADREAD 17 78899240 78899240 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr17:78899240G>A c.2879G>A c.(2878-2880)tGc>tAc p.C960Y COADREAD 17 78914365 78914365 + Missense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr17:78914365C>T c.2989C>T c.(2989-2991)Cgt>Tgt p.R997C COADREAD 17 78914375 78914375 + Missense_Mutation SNP G G T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr17:78914375G>T c.2999G>T c.(2998-3000)aGg>aTg p.R1000M COADREAD 17 78919564 78919564 + Silent SNP C C T TCGA-AA-3955-01A-02W-0995-10 TCGA-AA-3955-10A-01W-0995-10 g.chr17:78919564C>T c.3123C>T c.(3121-3123)gcC>gcT p.A1041A COADREAD 17 78921117 78921117 + Silent SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr17:78921117C>T c.3231C>T c.(3229-3231)aaC>aaT p.N1077N COADREAD 17 78923327 78923327 + Missense_Mutation SNP A A G TCGA-AD-6965-01A-11D-1924-10 TCGA-AD-6965-10A-01D-1924-10 g.chr17:78923327A>G c.3350A>G c.(3349-3351)gAc>gGc p.D1117G COADREAD 17 78931502 78931502 + Nonsense_Mutation SNP G G A TCGA-D5-6931-01A-11D-1924-10 TCGA-D5-6931-10A-01D-1924-10 g.chr17:78931502G>A c.3449G>A c.(3448-3450)tGg>tAg p.W1150* COADREAD 17 78935210 78935210 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr17:78935210C>T c.3622C>T c.(3622-3624)Cgg>Tgg p.R1208W COADREAD 17 78935253 78935253 + Missense_Mutation SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr17:78935253G>A c.3665G>A c.(3664-3666)cGt>cAt p.R1222H COADREAD 17 78936325 78936325 + Missense_Mutation SNP G G C TCGA-DM-A1D9-01A-11D-A152-10 TCGA-DM-A1D9-10A-01D-A152-10 g.chr17:78936325G>C c.3757G>C c.(3757-3759)Gtg>Ctg p.V1253L DLBC 17 78820351 78820351 + Missense_Mutation SNP G G A TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr17:78820351G>A c.1291G>A c.(1291-1293)Gaa>Aaa p.E431K DLBC 17 78936339 78936339 + Silent SNP G G A TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr17:78936339G>A c.3771G>A c.(3769-3771)acG>acA p.T1257T ESCA 17 78617542 78617542 + Missense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 g.chr17:78617542G>T c.280G>T c.(280-282)Ggt>Tgt p.G94C ESCA 17 78704398 78704398 + Silent SNP G G T TCGA-R6-A8W5-01B-11D-A37C-09 TCGA-R6-A8W5-10A-01D-A37F-09 g.chr17:78704398G>T c.546G>T c.(544-546)ctG>ctT p.L182L ESCA 17 78704474 78704474 + Nonsense_Mutation SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 g.chr17:78704474C>T c.622C>T c.(622-624)Cag>Tag p.Q208* ESCA 17 78765283 78765283 + Silent SNP T T C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 g.chr17:78765283T>C c.864T>C c.(862-864)ccT>ccC p.P288P ESCA 17 78797005 78797005 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 g.chr17:78797005C>T c.1118C>T c.(1117-1119)aCg>aTg p.T373M ESCA 17 78865547 78865547 + Missense_Mutation SNP G G T TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 g.chr17:78865547G>T c.2011G>T c.(2011-2013)Gtg>Ttg p.V671L GBM 17 78797000 78797000 + Silent SNP G G A TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 g.chr17:78797000G>A c.1113G>A c.(1111-1113)ccG>ccA p.P371P GBMLGG 17 78797000 78797000 + Silent SNP G G A TCGA-06-0158-01A-01D-1491-08 TCGA-06-0158-10A-01D-1491-08 g.chr17:78797000G>A c.1113G>A c.(1111-1113)ccG>ccA p.P371P GBMLGG 17 78866640 78866640 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:78866640C>A c.2213C>A c.(2212-2214)tCt>tAt p.S738Y GBMLGG 17 78866649 78866649 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:78866649A>G c.2222A>G c.(2221-2223)aAc>aGc p.N741S HNSC 17 78681774 78681774 + Missense_Mutation SNP A A G TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 g.chr17:78681774A>G c.482A>G c.(481-483)aAc>aGc p.N161S HNSC 17 78681790 78681790 + Silent SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 g.chr17:78681790C>G c.498C>G c.(496-498)gtC>gtG p.V166V HNSC 17 78820280 78820280 + Missense_Mutation SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 g.chr17:78820280C>T c.1220C>T c.(1219-1221)cCg>cTg p.P407L HNSC 17 78858859 78858859 + Missense_Mutation SNP G G C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 g.chr17:78858859G>C c.1894G>C c.(1894-1896)Gag>Cag p.E632Q HNSC 17 78882691 78882691 + Missense_Mutation SNP G G A TCGA-CV-A468-01A-11D-A25Y-08 TCGA-CV-A468-10A-01D-A25Y-08 g.chr17:78882691G>A c.2482G>A c.(2482-2484)Gac>Aac p.D828N HNSC 17 78882729 78882729 + Splice_Site SNP G G A TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 g.chr17:78882729G>A c.2520G>A c.(2518-2520)aaG>aaA p.K840K HNSC 17 78897295 78897295 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 g.chr17:78897295C>T c.2630C>T c.(2629-2631)tCc>tTc p.S877F HNSC 17 78899184 78899184 + Silent SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 g.chr17:78899184G>A c.2823G>A c.(2821-2823)gcG>gcA p.A941A HNSC 17 78899197 78899197 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr17:78899197G>A c.2836G>A c.(2836-2838)Gga>Aga p.G946R HNSC 17 78899198 78899198 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr17:78899198G>A c.2837G>A c.(2836-2838)gGa>gAa p.G946E HNSC 17 78938109 78938109 + Silent SNP G G A TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 g.chr17:78938109G>A c.3987G>A c.(3985-3987)tcG>tcA p.S1329S KICH 17 78866565 78866565 + Missense_Mutation SNP G G T TCGA-KN-8425-01A-11D-2310-10 TCGA-KN-8425-11A-01D-2310-10 g.chr17:78866565G>T c.2138G>T c.(2137-2139)tGc>tTc p.C713F KIPAN 17 78704364 78704364 + Missense_Mutation SNP A A C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr17:78704364A>C c.512A>C c.(511-513)tAc>tCc p.Y171S KIPAN 17 78727975 78727975 + Missense_Mutation SNP G G A TCGA-B0-5696-01A-11D-1534-10 TCGA-B0-5696-11A-01D-1534-10 g.chr17:78727975G>A c.820G>A c.(820-822)Gcc>Acc p.A274T KIPAN 17 78811724 78811724 + Missense_Mutation SNP A A C TCGA-GL-A59T-01A-21D-A28G-10 TCGA-GL-A59T-10A-01D-A28G-10 g.chr17:78811724A>C c.1139A>C c.(1138-1140)cAa>cCa p.Q380P KIPAN 17 78866565 78866565 + Missense_Mutation SNP G G T TCGA-KN-8425-01A-11D-2310-10 TCGA-KN-8425-11A-01D-2310-10 g.chr17:78866565G>T c.2138G>T c.(2137-2139)tGc>tTc p.C713F KIPAN 17 78935234 78935234 + Missense_Mutation SNP A A C TCGA-CJ-4636-01A-02D-1386-10 TCGA-CJ-4636-11A-01D-1251-10 g.chr17:78935234A>C c.3646A>C c.(3646-3648)Aag>Cag p.K1216Q KIRC 17 78704364 78704364 + Missense_Mutation SNP A A C TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr17:78704364A>C c.512A>C c.(511-513)tAc>tCc p.Y171S KIRC 17 78727975 78727975 + Missense_Mutation SNP G G A TCGA-B0-5696-01A-11D-1534-10 TCGA-B0-5696-11A-01D-1534-10 g.chr17:78727975G>A c.820G>A c.(820-822)Gcc>Acc p.A274T KIRC 17 78935234 78935234 + Missense_Mutation SNP A A C TCGA-CJ-4636-01A-02D-1386-10 TCGA-CJ-4636-11A-01D-1251-10 g.chr17:78935234A>C c.3646A>C c.(3646-3648)Aag>Cag p.K1216Q KIRP 17 78811724 78811724 + Missense_Mutation SNP A A C TCGA-GL-A59T-01A-21D-A28G-10 TCGA-GL-A59T-10A-01D-A28G-10 g.chr17:78811724A>C c.1139A>C c.(1138-1140)cAa>cCa p.Q380P LGG 17 78866640 78866640 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:78866640C>A c.2213C>A c.(2212-2214)tCt>tAt p.S738Y LGG 17 78866649 78866649 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:78866649A>G c.2222A>G c.(2221-2223)aAc>aGc p.N741S LIHC 17 78704429 78704429 + Missense_Mutation SNP G G A TCGA-CC-5262-01A-01D-A12Z-10 TCGA-CC-5262-10B-01D-A12Z-10 g.chr17:78704429G>A c.577G>A c.(577-579)Gtc>Atc p.V193I LIHC 17 78704430 78704430 + Missense_Mutation SNP T T C TCGA-DD-AADG-01A-11D-A40R-10 TCGA-DD-AADG-10A-01D-A40U-10 g.chr17:78704430T>C c.578T>C c.(577-579)gTc>gCc p.V193A LIHC 17 78796082 78796082 + Silent SNP G G A TCGA-DD-AAVW-01A-11D-A40R-10 TCGA-DD-AAVW-10A-01D-A40U-10 g.chr17:78796082G>A c.972G>A c.(970-972)gcG>gcA p.A324A LIHC 17 78857615 78857615 + Missense_Mutation SNP G G A TCGA-G3-A5SJ-01A-11D-A27I-10 TCGA-G3-A5SJ-10A-01D-A27I-10 g.chr17:78857615G>A c.1685G>A c.(1684-1686)tGc>tAc p.C562Y LIHC 17 78919549 78919549 + Silent SNP G G C TCGA-DD-AAEG-01A-11D-A38X-10 TCGA-DD-AAEG-10A-01D-A38X-10 g.chr17:78919549G>C c.3108G>C c.(3106-3108)ccG>ccC p.P1036P LIHC 17 78931502 78931503 + Missense_Mutation DNP GG GG TT TCGA-XR-A8TC-01A-11D-A35Z-10 TCGA-XR-A8TC-10A-01D-A35Z-10 g.chr17:78931502_78931503GG>TT c.3449_3450GG>TT c.(3448-3450)tGG>tTT p.W1150F LUAD 17 78599530 78599531 + Frame_Shift_Ins INS - - T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr17:78599530_78599531insT c.202_203insT c.(202-204)gttfs p.V68fs LUAD 17 78599561 78599561 + Missense_Mutation SNP C C A TCGA-78-7149-01A-11D-2036-08 TCGA-78-7149-10A-01D-2036-08 g.chr17:78599561C>A c.233C>A c.(232-234)aCc>aAc p.T78N LUAD 17 78617595 78617595 + Silent SNP G G A TCGA-91-A4BC-01A-11D-A24D-08 TCGA-91-A4BC-10A-01D-A24F-08 g.chr17:78617595G>A c.333G>A c.(331-333)gaG>gaA p.E111E LUAD 17 78681641 78681641 + Splice_Site SNP G G T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr17:78681641G>T c.349G>T c.(349-351)Gcc>Tcc p.A117S LUAD 17 78681705 78681705 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 g.chr17:78681705G>T c.413G>T c.(412-414)cGt>cTt p.R138L LUAD 17 78704429 78704429 + Missense_Mutation SNP G G A TCGA-17-Z036-01A-01W-0746-08 TCGA-17-Z036-11A-01W-0746-08 g.chr17:78704429G>A c.577G>A c.(577-579)Gtc>Atc p.V193I LUAD 17 78704506 78704506 + Splice_Site SNP G G A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr17:78704506G>A c.654G>A c.(652-654)gaG>gaA p.E218E LUAD 17 78727894 78727894 + Missense_Mutation SNP G G A TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr17:78727894G>A c.739G>A c.(739-741)Gag>Aag p.E247K LUAD 17 78796041 78796041 + Missense_Mutation SNP G G A TCGA-55-8092-01A-11D-2238-08 TCGA-55-8092-10A-01D-2238-08 g.chr17:78796041G>A c.931G>A c.(931-933)Gaa>Aaa p.E311K LUAD 17 78811791 78811791 + Silent SNP G G A TCGA-44-5643-01A-01D-1625-08 TCGA-44-5643-10A-01D-1625-08 g.chr17:78811791G>A c.1206G>A c.(1204-1206)gcG>gcA p.A402A LUAD 17 78858847 78858847 + Missense_Mutation SNP G G T TCGA-17-Z058-01A-01W-0747-08 TCGA-17-Z058-11A-01W-0747-08 g.chr17:78858847G>T c.1882G>T c.(1882-1884)Ggc>Tgc p.G628C LUAD 17 78882694 78882694 + Missense_Mutation SNP G G T TCGA-55-8301-01A-11D-2284-08 TCGA-55-8301-10A-01D-2284-08 g.chr17:78882694G>T c.2485G>T c.(2485-2487)Gtg>Ttg p.V829L LUAD 17 78897445 78897445 + Missense_Mutation SNP G G T TCGA-73-4668-01A-01D-1265-08 TCGA-73-4668-11A-01D-1265-08 g.chr17:78897445G>T c.2780G>T c.(2779-2781)cGg>cTg p.R927L LUAD 17 78919498 78919498 + Silent SNP G G A TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chr17:78919498G>A c.3057G>A c.(3055-3057)ctG>ctA p.L1019L LUAD 17 78921115 78921115 + Missense_Mutation SNP A A G TCGA-55-8508-01A-11D-2393-08 TCGA-55-8508-10A-01D-2393-08 g.chr17:78921115A>G c.3229A>G c.(3229-3231)Aac>Gac p.N1077D LUAD 17 78923270 78923271 + Frame_Shift_Ins INS - - T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr17:78923270_78923271insT c.3293_3294insT c.(3292-3297)aattttfs p.NF1098fs LUAD 17 78931471 78931471 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chr17:78931471A>T c.3418A>T c.(3418-3420)Agc>Tgc p.S1140C LUAD 17 78931486 78931486 + Missense_Mutation SNP C C T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 g.chr17:78931486C>T c.3433C>T c.(3433-3435)Cgg>Tgg p.R1145W LUSC 17 78681766 78681766 + Silent SNP C C A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 g.chr17:78681766C>A c.474C>A c.(472-474)ccC>ccA p.P158P LUSC 17 78796099 78796099 + Missense_Mutation SNP G G A TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 g.chr17:78796099G>A c.989G>A c.(988-990)cGg>cAg p.R330Q LUSC 17 78866598 78866598 + Missense_Mutation SNP G G A TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 g.chr17:78866598G>A c.2171G>A c.(2170-2172)gGa>gAa p.G724E LUSC 17 78867568 78867568 + Silent SNP C C T TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 g.chr17:78867568C>T c.2304C>T c.(2302-2304)acC>acT p.T768T LUSC 17 78896603 78896603 + Missense_Mutation SNP A A G TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 g.chr17:78896603A>G c.2600A>G c.(2599-2601)aAg>aGg p.K867R LUSC 17 78921039 78921039 + Nonsense_Mutation SNP G G A TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 g.chr17:78921039G>A c.3153G>A c.(3151-3153)tgG>tgA p.W1051* OV 17 78727815 78727816 + Frame_Shift_Ins INS - - G TCGA-09-1669-01A-01W-0615-10 TCGA-09-1669-10A-01W-0616-10 g.chr17:78727815_78727816insG c.660_661insG c.(661-663)gcafs p.A221fs OV 17 78933951 78933951 + Missense_Mutation SNP G G C TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 g.chr17:78933951G>C c.3551G>C c.(3550-3552)gGc>gCc p.G1184A OV 17 78936735 78936735 + Missense_Mutation SNP G G A TCGA-04-1649-01A-01W-0639-09 TCGA-04-1649-11A-01W-0639-09 g.chr17:78936735G>A c.3817G>A c.(3817-3819)Gtc>Atc p.V1273I PAAD 17 78681708 78681708 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:78681708G>A c.416G>A c.(415-417)cGc>cAc p.R139H PAAD 17 78796055 78796055 + Silent SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:78796055C>A c.945C>A c.(943-945)atC>atA p.I315I PAAD 17 78897351 78897351 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:78897351C>T c.2686C>T c.(2686-2688)Ccg>Tcg p.P896S PAAD 17 78923309 78923309 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:78923309C>T c.3332C>T c.(3331-3333)gCg>gTg p.A1111V PAAD 17 78923328 78923328 + Missense_Mutation SNP C C G TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 g.chr17:78923328C>G c.3351C>G c.(3349-3351)gaC>gaG p.D1117E PAAD 17 78933943 78933943 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:78933943C>T c.3543C>T c.(3541-3543)atC>atT p.I1181I PRAD 17 78831653 78831653 + Missense_Mutation SNP C C G TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 g.chr17:78831653C>G c.1462C>G c.(1462-1464)Cgg>Ggg p.R488G PRAD 17 78831654 78831654 + Missense_Mutation SNP G G A TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr17:78831654G>A c.1463G>A c.(1462-1464)cGg>cAg p.R488Q PRAD 17 78854264 78854264 + Missense_Mutation SNP C C T TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 g.chr17:78854264C>T c.1559C>T c.(1558-1560)tCg>tTg p.S520L PRAD 17 78857260 78857260 + Silent SNP C C T TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 g.chr17:78857260C>T c.1626C>T c.(1624-1626)atC>atT p.I542I PRAD 17 78857702 78857702 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:78857702C>T c.1772C>T c.(1771-1773)gCg>gTg p.A591V READ 17 78704377 78704377 + Silent SNP C C T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr17:78704377C>T c.525C>T c.(523-525)atC>atT p.I175I READ 17 78857615 78857615 + Missense_Mutation SNP G G T TCGA-DY-A1DF-01A-11D-A152-10 TCGA-DY-A1DF-10A-01D-A152-10 g.chr17:78857615G>T c.1685G>T c.(1684-1686)tGc>tTc p.C562F READ 17 78858821 78858821 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr17:78858821C>T c.1856C>T c.(1855-1857)gCg>gTg p.A619V READ 17 78866640 78866640 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:78866640C>A c.2213C>A c.(2212-2214)tCt>tAt p.S738Y READ 17 78882647 78882647 + Missense_Mutation SNP G G T TCGA-F5-6571-01A-12D-1826-10 TCGA-F5-6571-10A-01D-1826-10 g.chr17:78882647G>T c.2438G>T c.(2437-2439)aGa>aTa p.R813I READ 17 78935210 78935210 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr17:78935210C>T c.3622C>T c.(3622-3624)Cgg>Tgg p.R1208W SKCM 17 78704442 78704442 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr17:78704442C>T c.590C>T c.(589-591)tCc>tTc p.S197F SKCM 17 78704470 78704470 + Missense_Mutation SNP C C A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr17:78704470C>A c.618C>A c.(616-618)ttC>ttA p.F206L SKCM 17 78727930 78727930 + Missense_Mutation SNP C C T TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr17:78727930C>T c.775C>T c.(775-777)Ccg>Tcg p.P259S SKCM 17 78796094 78796094 + Silent SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr17:78796094C>T c.984C>T c.(982-984)ctC>ctT p.L328L SKCM 17 78796099 78796099 + Missense_Mutation SNP G G A TCGA-DA-A3F5-06A-11D-A20D-08 TCGA-DA-A3F5-10A-01D-A20D-08 g.chr17:78796099G>A c.989G>A c.(988-990)cGg>cAg p.R330Q SKCM 17 78811795 78811795 + Missense_Mutation SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr17:78811795C>T c.1210C>T c.(1210-1212)Cgg>Tgg p.R404W SKCM 17 78820279 78820279 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 g.chr17:78820279C>T c.1219C>T c.(1219-1221)Ccg>Tcg p.P407S SKCM 17 78820344 78820344 + Silent SNP C C T TCGA-EE-A3J4-06A-11D-A20D-08 TCGA-EE-A3J4-10A-01D-A20D-08 g.chr17:78820344C>T c.1284C>T c.(1282-1284)aaC>aaT p.N428N SKCM 17 78820345 78820345 + Missense_Mutation SNP C C T TCGA-EE-A3AD-06A-11D-A196-08 TCGA-EE-A3AD-10A-01D-A198-08 g.chr17:78820345C>T c.1285C>T c.(1285-1287)Cca>Tca p.P429S SKCM 17 78820345 78820345 + Missense_Mutation SNP C C T TCGA-EE-A3J4-06A-11D-A20D-08 TCGA-EE-A3J4-10A-01D-A20D-08 g.chr17:78820345C>T c.1285C>T c.(1285-1287)Cca>Tca p.P429S SKCM 17 78858875 78858875 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr17:78858875C>T c.1910C>T c.(1909-1911)tCc>tTc p.S637F SKCM 17 78866666 78866666 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr17:78866666G>A c.2239G>A c.(2239-2241)Gaa>Aaa p.E747K SKCM 17 78867523 78867523 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 g.chr17:78867523G>A c.2259G>A c.(2257-2259)gcG>gcA p.A753A SKCM 17 78882720 78882720 + Silent SNP C C T TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 g.chr17:78882720C>T c.2511C>T c.(2509-2511)atC>atT p.I837I SKCM 17 78897296 78897296 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr17:78897296C>T c.2631C>T c.(2629-2631)tcC>tcT p.S877S SKCM 17 78897336 78897336 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr17:78897336G>A c.2671G>A c.(2671-2673)Gat>Aat p.D891N SKCM 17 78899217 78899217 + Silent SNP C C T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr17:78899217C>T c.2856C>T c.(2854-2856)tcC>tcT p.S952S SKCM 17 78919516 78919516 + Silent SNP C C T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 g.chr17:78919516C>T c.3075C>T c.(3073-3075)gtC>gtT p.V1025V SKCM 17 78919516 78919516 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr17:78919516C>T c.3075C>T c.(3073-3075)gtC>gtT p.V1025V SKCM 17 78919517 78919517 + Missense_Mutation SNP C C T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 g.chr17:78919517C>T c.3076C>T c.(3076-3078)Ccc>Tcc p.P1026S SKCM 17 78921039 78921039 + Nonsense_Mutation SNP G G A TCGA-D3-A5GS-06A-11D-A27K-08 TCGA-D3-A5GS-10A-01D-A27N-08 g.chr17:78921039G>A c.3153G>A c.(3151-3153)tgG>tgA p.W1051* SKCM 17 78931465 78931465 + Missense_Mutation SNP C C T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr17:78931465C>T c.3412C>T c.(3412-3414)Ctc>Ttc p.L1138F SKCM 17 78931467 78931467 + Silent SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr17:78931467C>T c.3414C>T c.(3412-3414)ctC>ctT p.L1138L SKCM 17 78933889 78933889 + Silent SNP G G A TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr17:78933889G>A c.3489G>A c.(3487-3489)acG>acA p.T1163T SKCM 17 78933890 78933890 + Missense_Mutation SNP G G A TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr17:78933890G>A c.3490G>A c.(3490-3492)Ggc>Agc p.G1164S SKCM 17 78938108 78938108 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr17:78938108C>T c.3986C>T c.(3985-3987)tCg>tTg p.S1329L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US 17 78820290 78820290 single base substitution C G 3_prime_UTR_variant AML-US 17 78820290 78820290 single base substitution C G exon_variant AML-US 17 78820290 78820290 single base substitution C G synonymous_variant A225A 675C>G AML-US 17 78820290 78820290 single base substitution C G synonymous_variant A410A 1230C>G BLCA-CN 17 78820329 78820329 single base substitution C T 3_prime_UTR_variant BLCA-CN 17 78820329 78820329 single base substitution C T exon_variant BLCA-CN 17 78820329 78820329 single base substitution C T synonymous_variant G238G 714C>T BLCA-CN 17 78820329 78820329 single base substitution C T synonymous_variant G423G 1269C>T BLCA-CN 17 78897395 78897395 single base substitution C A exon_variant BLCA-CN 17 78897395 78897395 single base substitution C A synonymous_variant G70G 210C>A BLCA-CN 17 78897395 78897395 single base substitution C A synonymous_variant G752G 2256C>A BLCA-CN 17 78897395 78897395 single base substitution C A synonymous_variant G910G 2730C>A BLCA-US 17 78519560 78519560 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 17 78519560 78519560 single base substitution C G exon_variant BLCA-US 17 78519560 78519560 single base substitution C G missense_variant S44C 131C>G BLCA-US 17 78704398 78704398 single base substitution G A 3_prime_UTR_variant BLCA-US 17 78704398 78704398 single base substitution G A 5_prime_UTR_variant BLCA-US 17 78704398 78704398 single base substitution G A exon_variant BLCA-US 17 78704398 78704398 single base substitution G A synonymous_variant L182L 546G>A BLCA-US 17 78936369 78936369 single base substitution G C downstream_gene_variant BLCA-US 17 78936369 78936369 single base substitution G C exon_variant BLCA-US 17 78936369 78936369 single base substitution G C synonymous_variant L1109L 3327G>C BLCA-US 17 78936369 78936369 single base substitution G C synonymous_variant L1267L 3801G>C BOCA-FR 17 78517012 78517012 single base substitution A G upstream_gene_variant BOCA-FR 17 78614703 78614703 single base substitution C T intron_variant BOCA-FR 17 78645615 78645616 multiple base substitution (>=2bp and <=200bp) GG CT intron_variant BOCA-FR 17 78659680 78659680 single base substitution C T intron_variant BOCA-FR 17 78676478 78676478 single base substitution A T intron_variant BOCA-FR 17 78682429 78682429 single base substitution T C intron_variant BOCA-FR 17 78682429 78682429 single base substitution T C upstream_gene_variant BOCA-FR 17 78789689 78789689 single base substitution T C intron_variant BOCA-FR 17 78866376 78866376 single base substitution G T intron_variant BOCA-FR 17 78896587 78896587 single base substitution G A exon_variant BOCA-FR 17 78896587 78896587 single base substitution G A missense_variant A22T 64G>A BOCA-FR 17 78896587 78896587 single base substitution G A missense_variant A704T 2110G>A BOCA-FR 17 78896587 78896587 single base substitution G A missense_variant A862T 2584G>A BRCA-EU 17 78514306 78514306 single base substitution G A upstream_gene_variant BRCA-EU 17 78514405 78514405 single base substitution C T upstream_gene_variant BRCA-EU 17 78514632 78514632 single base substitution G A upstream_gene_variant BRCA-EU 17 78515296 78515296 single base substitution C G upstream_gene_variant BRCA-EU 17 78515367 78515367 single base substitution C T upstream_gene_variant BRCA-EU 17 78515594 78515594 single base substitution A C upstream_gene_variant BRCA-EU 17 78516026 78516026 single base substitution G C upstream_gene_variant BRCA-EU 17 78516402 78516402 single base substitution C T upstream_gene_variant BRCA-EU 17 78516554 78516554 single base substitution C A upstream_gene_variant BRCA-EU 17 78518264 78518264 single base substitution A C upstream_gene_variant BRCA-EU 17 78518556 78518556 single base substitution C T upstream_gene_variant BRCA-EU 17 78519642 78519642 single base substitution G C intron_variant BRCA-EU 17 78520745 78520745 single base substitution C G intron_variant BRCA-EU 17 78521373 78521373 single base substitution G A intron_variant BRCA-EU 17 78522847 78522847 single base substitution C T intron_variant BRCA-EU 17 78524940 78524940 single base substitution C T intron_variant BRCA-EU 17 78525101 78525101 single base substitution G T intron_variant BRCA-EU 17 78527538 78527538 single base substitution G A intron_variant BRCA-EU 17 78527860 78527860 single base substitution G C intron_variant BRCA-EU 17 78530696 78530696 single base substitution C T intron_variant BRCA-EU 17 78531178 78531178 single base substitution G T intron_variant BRCA-EU 17 78532681 78532681 single base substitution C G intron_variant BRCA-EU 17 78533042 78533042 single base substitution C G intron_variant BRCA-EU 17 78533127 78533127 single base substitution G A intron_variant BRCA-EU 17 78533641 78533641 single base substitution A T intron_variant BRCA-EU 17 78534415 78534415 single base substitution G A intron_variant BRCA-EU 17 78534787 78534787 single base substitution T G intron_variant BRCA-EU 17 78536413 78536413 single base substitution G A intron_variant BRCA-EU 17 78536665 78536665 single base substitution C G intron_variant BRCA-EU 17 78536902 78536902 single base substitution C T intron_variant BRCA-EU 17 78536944 78536944 single base substitution C T intron_variant BRCA-EU 17 78537632 78537632 single base substitution G A intron_variant BRCA-EU 17 78538081 78538081 single base substitution C T intron_variant BRCA-EU 17 78538519 78538519 deletion of <=200bp T - intron_variant BRCA-EU 17 78538969 78538969 single base substitution G A intron_variant BRCA-EU 17 78539656 78539656 single base substitution C G intron_variant BRCA-EU 17 78541214 78541214 single base substitution T A intron_variant BRCA-EU 17 78541743 78541743 single base substitution G C intron_variant BRCA-EU 17 78543612 78543612 single base substitution C T intron_variant BRCA-EU 17 78543615 78543615 single base substitution T C intron_variant BRCA-EU 17 78543766 78543766 single base substitution C T intron_variant BRCA-EU 17 78544639 78544639 single base substitution A T intron_variant BRCA-EU 17 78545222 78545222 single base substitution T C intron_variant BRCA-EU 17 78545659 78545659 single base substitution C G intron_variant BRCA-EU 17 78546296 78546296 single base substitution T G intron_variant BRCA-EU 17 78550982 78550982 deletion of <=200bp C - intron_variant BRCA-EU 17 78551146 78551146 single base substitution A T intron_variant BRCA-EU 17 78551559 78551559 single base substitution C T intron_variant BRCA-EU 17 78552796 78552796 single base substitution C T intron_variant BRCA-EU 17 78553390 78553390 single base substitution G A intron_variant BRCA-EU 17 78554187 78554187 single base substitution G C intron_variant BRCA-EU 17 78556241 78556241 single base substitution C T intron_variant BRCA-EU 17 78558505 78558505 single base substitution C T intron_variant BRCA-EU 17 78559151 78559151 single base substitution C T intron_variant BRCA-EU 17 78561307 78561307 single base substitution G T intron_variant BRCA-EU 17 78561589 78561589 single base substitution T C intron_variant BRCA-EU 17 78562070 78562070 single base substitution C T intron_variant BRCA-EU 17 78563134 78563134 single base substitution C A intron_variant BRCA-EU 17 78563548 78563548 insertion of <=200bp - TT intron_variant BRCA-EU 17 78563925 78563925 single base substitution C G intron_variant BRCA-EU 17 78564432 78564432 single base substitution G A intron_variant BRCA-EU 17 78567329 78567329 single base substitution A C exon_variant BRCA-EU 17 78567329 78567329 single base substitution A C intron_variant BRCA-EU 17 78567525 78567525 single base substitution T C exon_variant BRCA-EU 17 78567525 78567525 single base substitution T C intron_variant BRCA-EU 17 78568108 78568108 single base substitution G T downstream_gene_variant BRCA-EU 17 78568108 78568108 single base substitution G T intron_variant BRCA-EU 17 78568109 78568109 single base substitution G T downstream_gene_variant BRCA-EU 17 78568109 78568109 single base substitution G T intron_variant BRCA-EU 17 78569518 78569518 single base substitution A G downstream_gene_variant BRCA-EU 17 78569518 78569518 single base substitution A G intron_variant BRCA-EU 17 78571091 78571091 single base substitution G C downstream_gene_variant BRCA-EU 17 78571091 78571091 single base substitution G C intron_variant BRCA-EU 17 78571092 78571092 single base substitution G T downstream_gene_variant BRCA-EU 17 78571092 78571092 single base substitution G T intron_variant BRCA-EU 17 78571803 78571803 single base substitution G T downstream_gene_variant BRCA-EU 17 78571803 78571803 single base substitution G T intron_variant BRCA-EU 17 78571942 78571942 deletion of <=200bp A - downstream_gene_variant BRCA-EU 17 78571942 78571942 deletion of <=200bp A - intron_variant BRCA-EU 17 78572087 78572087 single base substitution G A downstream_gene_variant BRCA-EU 17 78572087 78572087 single base substitution G A intron_variant BRCA-EU 17 78572583 78572583 single base substitution G C downstream_gene_variant BRCA-EU 17 78572583 78572583 single base substitution G C intron_variant BRCA-EU 17 78573773 78573773 single base substitution C T intron_variant BRCA-EU 17 78573994 78573994 single base substitution C T intron_variant BRCA-EU 17 78574929 78574929 single base substitution G A intron_variant BRCA-EU 17 78576994 78576994 deletion of <=200bp C - intron_variant BRCA-EU 17 78577068 78577068 single base substitution C T intron_variant BRCA-EU 17 78577685 78577685 single base substitution C G intron_variant BRCA-EU 17 78577728 78577728 single base substitution C T intron_variant BRCA-EU 17 78578283 78578283 single base substitution C T intron_variant BRCA-EU 17 78581793 78581793 single base substitution C T intron_variant BRCA-EU 17 78581832 78581832 single base substitution C T intron_variant BRCA-EU 17 78583280 78583280 single base substitution T G intron_variant BRCA-EU 17 78583418 78583418 single base substitution G A intron_variant BRCA-EU 17 78584195 78584195 single base substitution C T intron_variant BRCA-EU 17 78586667 78586667 single base substitution C G intron_variant BRCA-EU 17 78587274 78587274 single base substitution T C intron_variant BRCA-EU 17 78587532 78587532 single base substitution G A intron_variant BRCA-EU 17 78587659 78587659 single base substitution C T intron_variant BRCA-EU 17 78587985 78587985 single base substitution C T intron_variant BRCA-EU 17 78589225 78589225 single base substitution T C intron_variant BRCA-EU 17 78589480 78589480 single base substitution C T intron_variant BRCA-EU 17 78589712 78589712 single base substitution C T intron_variant BRCA-EU 17 78590992 78590992 single base substitution A T intron_variant BRCA-EU 17 78591732 78591732 single base substitution C A intron_variant BRCA-EU 17 78592119 78592119 single base substitution T C intron_variant BRCA-EU 17 78592209 78592209 single base substitution C T intron_variant BRCA-EU 17 78592309 78592309 single base substitution G C intron_variant BRCA-EU 17 78595025 78595025 single base substitution C A intron_variant BRCA-EU 17 78596439 78596439 single base substitution G A intron_variant BRCA-EU 17 78596561 78596561 single base substitution G T intron_variant BRCA-EU 17 78597346 78597346 insertion of <=200bp - T intron_variant BRCA-EU 17 78597847 78597847 single base substitution C T intron_variant BRCA-EU 17 78597950 78597950 single base substitution C G intron_variant BRCA-EU 17 78598944 78598944 single base substitution G C intron_variant BRCA-EU 17 78601102 78601102 single base substitution G T intron_variant BRCA-EU 17 78601437 78601437 insertion of <=200bp - T intron_variant BRCA-EU 17 78602098 78602098 single base substitution T G intron_variant BRCA-EU 17 78602443 78602444 deletion of <=200bp CT - intron_variant BRCA-EU 17 78602788 78602788 single base substitution C G intron_variant BRCA-EU 17 78602931 78602931 single base substitution C G intron_variant BRCA-EU 17 78603113 78603113 single base substitution C T intron_variant BRCA-EU 17 78604975 78604975 single base substitution T A intron_variant BRCA-EU 17 78605555 78605555 single base substitution C G intron_variant BRCA-EU 17 78606199 78606199 single base substitution T C intron_variant BRCA-EU 17 78606912 78606912 insertion of <=200bp - A intron_variant BRCA-EU 17 78607293 78607293 single base substitution T G intron_variant BRCA-EU 17 78610046 78610046 deletion of <=200bp C - intron_variant BRCA-EU 17 78610624 78610624 single base substitution C T intron_variant BRCA-EU 17 78611279 78611279 single base substitution C T intron_variant BRCA-EU 17 78611412 78611412 single base substitution C G intron_variant BRCA-EU 17 78612370 78612370 single base substitution A G intron_variant BRCA-EU 17 78612476 78612476 single base substitution C T intron_variant BRCA-EU 17 78613750 78613750 single base substitution C T intron_variant BRCA-EU 17 78614843 78614843 insertion of <=200bp - T intron_variant BRCA-EU 17 78616845 78616845 single base substitution A T intron_variant BRCA-EU 17 78617239 78617239 single base substitution G T intron_variant BRCA-EU 17 78618925 78618925 single base substitution G C intron_variant BRCA-EU 17 78619298 78619298 single base substitution G A intron_variant BRCA-EU 17 78619887 78619887 single base substitution G A intron_variant BRCA-EU 17 78620202 78620202 single base substitution G A intron_variant BRCA-EU 17 78621645 78621645 single base substitution G T intron_variant BRCA-EU 17 78621719 78621719 single base substitution T C intron_variant BRCA-EU 17 78622951 78622951 single base substitution C T intron_variant BRCA-EU 17 78624041 78624041 single base substitution C A intron_variant BRCA-EU 17 78625735 78625735 single base substitution G C intron_variant BRCA-EU 17 78626152 78626152 single base substitution T G intron_variant BRCA-EU 17 78626240 78626240 single base substitution C G intron_variant BRCA-EU 17 78627223 78627223 single base substitution C A intron_variant BRCA-EU 17 78627237 78627237 single base substitution A T intron_variant BRCA-EU 17 78628505 78628505 single base substitution A G intron_variant BRCA-EU 17 78628721 78628721 single base substitution A G intron_variant BRCA-EU 17 78631273 78631273 deletion of <=200bp T - intron_variant BRCA-EU 17 78632984 78632984 single base substitution G T intron_variant BRCA-EU 17 78633341 78633341 single base substitution C G intron_variant BRCA-EU 17 78633447 78633447 single base substitution C T intron_variant BRCA-EU 17 78633503 78633503 single base substitution C T intron_variant BRCA-EU 17 78633615 78633615 single base substitution T A intron_variant BRCA-EU 17 78634022 78634022 single base substitution G T intron_variant BRCA-EU 17 78635322 78635322 single base substitution G T intron_variant BRCA-EU 17 78637679 78637679 single base substitution T G intron_variant BRCA-EU 17 78638159 78638159 single base substitution C T intron_variant BRCA-EU 17 78638965 78638965 single base substitution G C intron_variant BRCA-EU 17 78640128 78640128 single base substitution C T intron_variant BRCA-EU 17 78641492 78641492 single base substitution G C intron_variant BRCA-EU 17 78642212 78642212 single base substitution A T intron_variant BRCA-EU 17 78642603 78642603 single base substitution C G intron_variant BRCA-EU 17 78642971 78642971 single base substitution C T intron_variant BRCA-EU 17 78644382 78644382 single base substitution C G intron_variant BRCA-EU 17 78644534 78644534 single base substitution G A intron_variant BRCA-EU 17 78645385 78645385 single base substitution C G intron_variant BRCA-EU 17 78646320 78646325 deletion of <=200bp GCTCAC - intron_variant BRCA-EU 17 78646386 78646386 single base substitution C G intron_variant BRCA-EU 17 78646691 78646691 single base substitution G C intron_variant BRCA-EU 17 78647756 78647756 single base substitution T A intron_variant BRCA-EU 17 78647925 78647925 single base substitution C G intron_variant BRCA-EU 17 78649307 78649307 single base substitution G A intron_variant BRCA-EU 17 78649310 78649310 single base substitution C T intron_variant BRCA-EU 17 78653007 78653007 single base substitution G T intron_variant BRCA-EU 17 78653147 78653147 single base substitution G T intron_variant BRCA-EU 17 78653357 78653357 single base substitution C G intron_variant BRCA-EU 17 78653857 78653857 deletion of <=200bp C - intron_variant BRCA-EU 17 78654018 78654018 single base substitution C T intron_variant BRCA-EU 17 78654293 78654293 single base substitution C T intron_variant BRCA-EU 17 78655531 78655531 single base substitution C T intron_variant BRCA-EU 17 78656391 78656391 single base substitution G T intron_variant BRCA-EU 17 78656415 78656415 single base substitution G C intron_variant BRCA-EU 17 78656488 78656488 single base substitution G T intron_variant BRCA-EU 17 78657380 78657380 single base substitution A C intron_variant BRCA-EU 17 78657649 78657649 single base substitution C T intron_variant BRCA-EU 17 78658433 78658433 single base substitution G C intron_variant BRCA-EU 17 78658613 78658613 single base substitution C T intron_variant BRCA-EU 17 78658947 78658947 single base substitution C T intron_variant BRCA-EU 17 78661363 78661363 single base substitution C G intron_variant BRCA-EU 17 78661937 78661937 single base substitution G T intron_variant BRCA-EU 17 78662303 78662303 single base substitution C T intron_variant BRCA-EU 17 78663583 78663583 deletion of <=200bp G - intron_variant BRCA-EU 17 78664085 78664085 single base substitution G A intron_variant BRCA-EU 17 78664759 78664759 single base substitution T C intron_variant BRCA-EU 17 78665357 78665357 single base substitution G A intron_variant BRCA-EU 17 78665634 78665634 single base substitution C T intron_variant BRCA-EU 17 78665758 78665758 single base substitution C G intron_variant BRCA-EU 17 78666619 78666619 single base substitution G A intron_variant BRCA-EU 17 78667333 78667333 single base substitution G A intron_variant BRCA-EU 17 78668218 78668218 single base substitution G A intron_variant BRCA-EU 17 78672307 78672307 single base substitution C G intron_variant BRCA-EU 17 78674800 78674800 single base substitution G A intron_variant BRCA-EU 17 78674984 78674984 single base substitution G A intron_variant BRCA-EU 17 78676106 78676106 single base substitution A C intron_variant BRCA-EU 17 78676108 78676108 single base substitution A T intron_variant BRCA-EU 17 78677563 78677563 single base substitution G A intron_variant BRCA-EU 17 78678828 78678828 single base substitution G A intron_variant BRCA-EU 17 78678828 78678828 single base substitution G A upstream_gene_variant BRCA-EU 17 78681125 78681125 single base substitution C T intron_variant BRCA-EU 17 78681125 78681125 single base substitution C T upstream_gene_variant BRCA-EU 17 78683093 78683093 single base substitution G T intron_variant BRCA-EU 17 78683262 78683262 single base substitution C T intron_variant BRCA-EU 17 78683591 78683591 single base substitution G A intron_variant BRCA-EU 17 78684420 78684420 single base substitution G T intron_variant BRCA-EU 17 78684847 78684847 single base substitution C T intron_variant BRCA-EU 17 78686728 78686728 single base substitution T G intron_variant BRCA-EU 17 78687043 78687043 deletion of <=200bp T - intron_variant BRCA-EU 17 78687043 78687043 insertion of <=200bp - T intron_variant BRCA-EU 17 78687747 78687747 deletion of <=200bp T - intron_variant BRCA-EU 17 78689451 78689451 single base substitution G C intron_variant BRCA-EU 17 78689667 78689667 single base substitution C G intron_variant BRCA-EU 17 78689669 78689669 single base substitution C A intron_variant BRCA-EU 17 78689984 78689984 single base substitution G C intron_variant BRCA-EU 17 78690041 78690041 insertion of <=200bp - T intron_variant BRCA-EU 17 78691333 78691333 single base substitution G A intron_variant BRCA-EU 17 78692399 78692399 insertion of <=200bp - TCT intron_variant BRCA-EU 17 78692779 78692779 single base substitution C A intron_variant BRCA-EU 17 78695265 78695265 single base substitution C A intron_variant BRCA-EU 17 78695852 78695852 single base substitution A T intron_variant BRCA-EU 17 78696644 78696644 single base substitution A G intron_variant BRCA-EU 17 78697705 78697705 single base substitution A G intron_variant BRCA-EU 17 78698451 78698451 single base substitution C T intron_variant BRCA-EU 17 78698678 78698678 single base substitution G A intron_variant BRCA-EU 17 78700035 78700035 single base substitution C G intron_variant BRCA-EU 17 78700109 78700109 single base substitution A G intron_variant BRCA-EU 17 78701132 78701132 single base substitution T A intron_variant BRCA-EU 17 78701495 78701495 single base substitution G A intron_variant BRCA-EU 17 78702171 78702171 single base substitution A G intron_variant BRCA-EU 17 78702361 78702361 single base substitution G A intron_variant BRCA-EU 17 78703673 78703673 single base substitution G A intron_variant BRCA-EU 17 78704010 78704010 single base substitution G A intron_variant BRCA-EU 17 78705391 78705391 single base substitution T A intron_variant BRCA-EU 17 78707189 78707189 single base substitution G T intron_variant BRCA-EU 17 78709505 78709505 single base substitution C A intron_variant BRCA-EU 17 78711676 78711676 single base substitution G A intron_variant BRCA-EU 17 78711962 78711962 single base substitution C T intron_variant BRCA-EU 17 78712270 78712270 single base substitution C T intron_variant BRCA-EU 17 78712270 78712270 single base substitution C T upstream_gene_variant BRCA-EU 17 78712482 78712482 single base substitution T C intron_variant BRCA-EU 17 78712482 78712482 single base substitution T C upstream_gene_variant BRCA-EU 17 78712983 78712983 single base substitution G C intron_variant BRCA-EU 17 78712983 78712983 single base substitution G C upstream_gene_variant BRCA-EU 17 78714004 78714004 single base substitution G C intron_variant BRCA-EU 17 78714004 78714004 single base substitution G C upstream_gene_variant BRCA-EU 17 78714381 78714381 single base substitution A C intron_variant BRCA-EU 17 78714381 78714381 single base substitution A C upstream_gene_variant BRCA-EU 17 78714554 78714556 deletion of <=200bp AGA - intron_variant BRCA-EU 17 78714554 78714556 deletion of <=200bp AGA - upstream_gene_variant BRCA-EU 17 78715480 78715480 single base substitution G A intron_variant BRCA-EU 17 78715480 78715480 single base substitution G A upstream_gene_variant BRCA-EU 17 78715545 78715545 single base substitution G C intron_variant BRCA-EU 17 78715545 78715545 single base substitution G C upstream_gene_variant BRCA-EU 17 78717904 78717904 single base substitution C T intron_variant BRCA-EU 17 78718716 78718716 single base substitution C G intron_variant BRCA-EU 17 78718775 78718775 single base substitution C T intron_variant BRCA-EU 17 78719630 78719630 single base substitution G C intron_variant BRCA-EU 17 78719746 78719746 single base substitution G C intron_variant BRCA-EU 17 78720502 78720502 single base substitution A T intron_variant BRCA-EU 17 78721134 78721134 single base substitution C T intron_variant BRCA-EU 17 78721457 78721457 single base substitution G A intron_variant BRCA-EU 17 78722392 78722392 single base substitution G A intron_variant BRCA-EU 17 78722607 78722607 single base substitution C T intron_variant BRCA-EU 17 78725103 78725103 single base substitution C T intron_variant BRCA-EU 17 78727088 78727088 single base substitution G A intron_variant BRCA-EU 17 78727740 78727740 single base substitution T C intron_variant BRCA-EU 17 78728447 78728447 single base substitution G A downstream_gene_variant BRCA-EU 17 78728447 78728447 single base substitution G A intron_variant BRCA-EU 17 78728675 78728675 single base substitution T A downstream_gene_variant BRCA-EU 17 78728675 78728675 single base substitution T A intron_variant BRCA-EU 17 78729797 78729797 single base substitution A G downstream_gene_variant BRCA-EU 17 78729797 78729797 single base substitution A G intron_variant BRCA-EU 17 78731060 78731060 single base substitution G A downstream_gene_variant BRCA-EU 17 78731060 78731060 single base substitution G A intron_variant BRCA-EU 17 78731153 78731153 single base substitution C T downstream_gene_variant BRCA-EU 17 78731153 78731153 single base substitution C T intron_variant BRCA-EU 17 78731166 78731166 single base substitution C A downstream_gene_variant BRCA-EU 17 78731166 78731166 single base substitution C A intron_variant BRCA-EU 17 78731186 78731186 single base substitution G C downstream_gene_variant BRCA-EU 17 78731186 78731186 single base substitution G C intron_variant BRCA-EU 17 78731266 78731266 single base substitution G T downstream_gene_variant BRCA-EU 17 78731266 78731266 single base substitution G T intron_variant BRCA-EU 17 78733024 78733024 single base substitution C G intron_variant BRCA-EU 17 78733546 78733546 single base substitution A C intron_variant BRCA-EU 17 78733580 78733580 single base substitution C G intron_variant BRCA-EU 17 78733765 78733765 single base substitution T C intron_variant BRCA-EU 17 78733811 78733811 single base substitution T G intron_variant BRCA-EU 17 78734222 78734222 single base substitution C G intron_variant BRCA-EU 17 78734353 78734353 single base substitution C G intron_variant BRCA-EU 17 78734845 78734845 single base substitution C G intron_variant BRCA-EU 17 78735138 78735138 single base substitution G C intron_variant BRCA-EU 17 78735477 78735477 single base substitution G A intron_variant BRCA-EU 17 78736190 78736190 single base substitution G A intron_variant BRCA-EU 17 78736650 78736650 deletion of <=200bp A - intron_variant BRCA-EU 17 78737047 78737047 deletion of <=200bp A - intron_variant BRCA-EU 17 78737895 78737895 single base substitution T C intron_variant BRCA-EU 17 78739232 78739232 single base substitution G T intron_variant BRCA-EU 17 78739557 78739557 single base substitution G T intron_variant BRCA-EU 17 78740104 78740104 single base substitution C T intron_variant BRCA-EU 17 78741130 78741130 single base substitution C G intron_variant BRCA-EU 17 78741210 78741210 single base substitution G A intron_variant BRCA-EU 17 78741969 78741969 deletion of <=200bp T - intron_variant BRCA-EU 17 78742007 78742007 single base substitution C T intron_variant BRCA-EU 17 78742253 78742253 single base substitution G C intron_variant BRCA-EU 17 78743052 78743052 single base substitution G A intron_variant BRCA-EU 17 78745282 78745282 single base substitution G A intron_variant BRCA-EU 17 78747100 78747100 single base substitution C T intron_variant BRCA-EU 17 78747267 78747267 single base substitution C A intron_variant BRCA-EU 17 78748661 78748661 single base substitution C G intron_variant BRCA-EU 17 78748853 78748853 single base substitution G A intron_variant BRCA-EU 17 78748908 78748908 single base substitution C A intron_variant BRCA-EU 17 78750180 78750180 single base substitution G A intron_variant BRCA-EU 17 78750579 78750579 single base substitution C T intron_variant BRCA-EU 17 78751085 78751085 single base substitution G C intron_variant BRCA-EU 17 78751490 78751490 single base substitution A T intron_variant BRCA-EU 17 78752369 78752369 single base substitution G A intron_variant BRCA-EU 17 78754301 78754301 single base substitution C T intron_variant BRCA-EU 17 78756805 78756806 deletion of <=200bp TG - intron_variant BRCA-EU 17 78757019 78757019 single base substitution G A intron_variant BRCA-EU 17 78757450 78757450 single base substitution A T intron_variant BRCA-EU 17 78757786 78757786 deletion of <=200bp T - intron_variant BRCA-EU 17 78758161 78758161 single base substitution C T intron_variant BRCA-EU 17 78759537 78759537 single base substitution G A intron_variant BRCA-EU 17 78760258 78760258 single base substitution A C intron_variant BRCA-EU 17 78761580 78761580 single base substitution C G intron_variant BRCA-EU 17 78761851 78761851 single base substitution G A intron_variant BRCA-EU 17 78762659 78762659 single base substitution A G intron_variant BRCA-EU 17 78762758 78762758 single base substitution G C intron_variant BRCA-EU 17 78763053 78763053 single base substitution G A intron_variant BRCA-EU 17 78764232 78764232 single base substitution G A intron_variant BRCA-EU 17 78764272 78764272 single base substitution C G intron_variant BRCA-EU 17 78764632 78764632 single base substitution C G intron_variant BRCA-EU 17 78764856 78764856 single base substitution C G intron_variant BRCA-EU 17 78764935 78764935 single base substitution C G intron_variant BRCA-EU 17 78765233 78765233 single base substitution C G intron_variant BRCA-EU 17 78765611 78765611 single base substitution C G intron_variant BRCA-EU 17 78766958 78766958 single base substitution C T intron_variant BRCA-EU 17 78767111 78767111 single base substitution T C intron_variant BRCA-EU 17 78768442 78768442 single base substitution A G intron_variant BRCA-EU 17 78771146 78771146 single base substitution C T intron_variant BRCA-EU 17 78773543 78773543 single base substitution C G intron_variant BRCA-EU 17 78774227 78774227 single base substitution G A intron_variant BRCA-EU 17 78774507 78774507 insertion of <=200bp - TT intron_variant BRCA-EU 17 78774907 78774907 single base substitution G A intron_variant BRCA-EU 17 78775251 78775251 single base substitution G A intron_variant BRCA-EU 17 78775727 78775727 single base substitution C G intron_variant BRCA-EU 17 78776784 78776784 single base substitution G A intron_variant BRCA-EU 17 78778697 78778697 single base substitution A G intron_variant BRCA-EU 17 78779297 78779297 single base substitution G C intron_variant BRCA-EU 17 78779704 78779704 single base substitution C A intron_variant BRCA-EU 17 78779763 78779763 single base substitution A G intron_variant BRCA-EU 17 78780190 78780190 single base substitution G C intron_variant BRCA-EU 17 78780861 78780861 single base substitution G T intron_variant BRCA-EU 17 78781163 78781163 single base substitution G T intron_variant BRCA-EU 17 78781186 78781186 single base substitution G C intron_variant BRCA-EU 17 78781342 78781342 single base substitution G C intron_variant BRCA-EU 17 78782375 78782375 single base substitution G C intron_variant BRCA-EU 17 78783397 78783397 single base substitution T C intron_variant BRCA-EU 17 78783937 78783937 single base substitution C T intron_variant BRCA-EU 17 78786053 78786053 single base substitution C T intron_variant BRCA-EU 17 78786564 78786568 deletion of <=200bp TGGTC - intron_variant BRCA-EU 17 78787874 78787874 single base substitution G A intron_variant BRCA-EU 17 78788538 78788538 single base substitution G T intron_variant BRCA-EU 17 78788936 78788936 single base substitution G A intron_variant BRCA-EU 17 78789119 78789119 single base substitution G A intron_variant BRCA-EU 17 78789417 78789417 single base substitution G A intron_variant BRCA-EU 17 78791522 78791522 single base substitution G A intron_variant BRCA-EU 17 78791868 78791868 single base substitution C T intron_variant BRCA-EU 17 78792596 78792596 single base substitution T C intron_variant BRCA-EU 17 78793089 78793089 deletion of <=200bp C - intron_variant BRCA-EU 17 78793822 78793822 single base substitution A G intron_variant BRCA-EU 17 78795101 78795101 single base substitution G A intron_variant BRCA-EU 17 78797015 78797015 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 78797015 78797015 single base substitution C G exon_variant BRCA-EU 17 78797015 78797015 single base substitution C G missense_variant H191Q 573C>G BRCA-EU 17 78797015 78797015 single base substitution C G missense_variant H376Q 1128C>G BRCA-EU 17 78797198 78797198 deletion of <=200bp G - 3_prime_UTR_variant BRCA-EU 17 78797198 78797198 deletion of <=200bp G - intron_variant BRCA-EU 17 78798842 78798842 single base substitution G A downstream_gene_variant BRCA-EU 17 78798842 78798842 single base substitution G A intron_variant BRCA-EU 17 78799094 78799094 single base substitution G A downstream_gene_variant BRCA-EU 17 78799094 78799094 single base substitution G A intron_variant BRCA-EU 17 78799943 78799943 single base substitution C T downstream_gene_variant BRCA-EU 17 78799943 78799943 single base substitution C T intron_variant BRCA-EU 17 78800178 78800178 single base substitution C A downstream_gene_variant BRCA-EU 17 78800178 78800178 single base substitution C A intron_variant BRCA-EU 17 78802197 78802197 single base substitution C A downstream_gene_variant BRCA-EU 17 78802197 78802197 single base substitution C A intron_variant BRCA-EU 17 78803258 78803258 single base substitution G C intron_variant BRCA-EU 17 78807243 78807243 single base substitution T A intron_variant BRCA-EU 17 78807896 78807896 single base substitution G C intron_variant BRCA-EU 17 78808190 78808190 deletion of <=200bp C - intron_variant BRCA-EU 17 78808363 78808363 single base substitution G C intron_variant BRCA-EU 17 78809098 78809098 deletion of <=200bp C - intron_variant BRCA-EU 17 78809180 78809180 single base substitution C T intron_variant BRCA-EU 17 78809937 78809937 single base substitution G C intron_variant BRCA-EU 17 78809967 78809967 single base substitution G A intron_variant BRCA-EU 17 78810351 78810351 single base substitution C T intron_variant BRCA-EU 17 78810764 78810764 single base substitution G C intron_variant BRCA-EU 17 78811185 78811185 single base substitution C T intron_variant BRCA-EU 17 78813028 78813028 single base substitution A C intron_variant BRCA-EU 17 78813828 78813828 single base substitution G C intron_variant BRCA-EU 17 78816477 78816477 single base substitution A G intron_variant BRCA-EU 17 78816628 78816628 single base substitution C T intron_variant BRCA-EU 17 78818018 78818018 single base substitution G C intron_variant BRCA-EU 17 78819274 78819274 single base substitution A G intron_variant BRCA-EU 17 78820195 78820195 single base substitution G A intron_variant BRCA-EU 17 78822490 78822490 single base substitution C T intron_variant BRCA-EU 17 78824086 78824086 single base substitution C G intron_variant BRCA-EU 17 78824299 78824314 deletion of <=200bp TCCTGGGTTAAAGTGA - intron_variant BRCA-EU 17 78824917 78824917 single base substitution C T intron_variant BRCA-EU 17 78825631 78825631 single base substitution C T intron_variant BRCA-EU 17 78827970 78827970 single base substitution C T intron_variant BRCA-EU 17 78828420 78828420 single base substitution A G intron_variant BRCA-EU 17 78828487 78828487 single base substitution G A intron_variant BRCA-EU 17 78829744 78829744 single base substitution G A intron_variant BRCA-EU 17 78830983 78830983 single base substitution C G intron_variant BRCA-EU 17 78831440 78831440 single base substitution C A intron_variant BRCA-EU 17 78832803 78832803 single base substitution C T downstream_gene_variant BRCA-EU 17 78832803 78832803 single base substitution C T intron_variant BRCA-EU 17 78833959 78833959 single base substitution G C downstream_gene_variant BRCA-EU 17 78833959 78833959 single base substitution G C intron_variant BRCA-EU 17 78835038 78835038 single base substitution G A downstream_gene_variant BRCA-EU 17 78835038 78835038 single base substitution G A intron_variant BRCA-EU 17 78835457 78835457 single base substitution G A downstream_gene_variant BRCA-EU 17 78835457 78835457 single base substitution G A intron_variant BRCA-EU 17 78835554 78835554 single base substitution C A downstream_gene_variant BRCA-EU 17 78835554 78835554 single base substitution C A intron_variant BRCA-EU 17 78837224 78837224 single base substitution C G intron_variant BRCA-EU 17 78837461 78837461 single base substitution T A intron_variant BRCA-EU 17 78838226 78838226 single base substitution T C intron_variant BRCA-EU 17 78838266 78838266 single base substitution G A intron_variant BRCA-EU 17 78839445 78839445 single base substitution C G intron_variant BRCA-EU 17 78840208 78840208 single base substitution G A intron_variant BRCA-EU 17 78842577 78842577 single base substitution G C intron_variant BRCA-EU 17 78844379 78844379 single base substitution G A intron_variant BRCA-EU 17 78846537 78846537 single base substitution C G intron_variant BRCA-EU 17 78847935 78847935 single base substitution A G intron_variant BRCA-EU 17 78848383 78848383 single base substitution G C intron_variant BRCA-EU 17 78848940 78848940 single base substitution T G intron_variant BRCA-EU 17 78849820 78849820 single base substitution G T intron_variant BRCA-EU 17 78851257 78851257 single base substitution G C intron_variant BRCA-EU 17 78851773 78851773 single base substitution G A intron_variant BRCA-EU 17 78852887 78852887 single base substitution G A intron_variant BRCA-EU 17 78856233 78856233 single base substitution G C intron_variant BRCA-EU 17 78856679 78856679 single base substitution G A intron_variant BRCA-EU 17 78856969 78856969 single base substitution G A intron_variant BRCA-EU 17 78858567 78858567 single base substitution G A intron_variant BRCA-EU 17 78860819 78860819 single base substitution T C intron_variant BRCA-EU 17 78861052 78861052 single base substitution G A intron_variant BRCA-EU 17 78862059 78862059 single base substitution C T intron_variant BRCA-EU 17 78863155 78863155 single base substitution C A intron_variant BRCA-EU 17 78863690 78863690 single base substitution C T intron_variant BRCA-EU 17 78864072 78864072 single base substitution G T intron_variant BRCA-EU 17 78865746 78865746 single base substitution G A intron_variant BRCA-EU 17 78867500 78867500 single base substitution C T splice_region_variant BRCA-EU 17 78867587 78867587 single base substitution G C exon_variant BRCA-EU 17 78867587 78867587 single base substitution G C missense_variant E617Q 1849G>C BRCA-EU 17 78867587 78867587 single base substitution G C missense_variant E775Q 2323G>C BRCA-EU 17 78868385 78868385 single base substitution A T intron_variant BRCA-EU 17 78868565 78868566 deletion of <=200bp GT - intron_variant BRCA-EU 17 78869605 78869605 single base substitution T A intron_variant BRCA-EU 17 78871279 78871279 single base substitution G C intron_variant BRCA-EU 17 78872916 78872916 single base substitution G T intron_variant BRCA-EU 17 78873278 78873278 single base substitution C T intron_variant BRCA-EU 17 78873545 78873545 single base substitution A T intron_variant BRCA-EU 17 78874141 78874141 deletion of <=200bp C - intron_variant BRCA-EU 17 78874771 78874771 single base substitution C G intron_variant BRCA-EU 17 78878792 78878792 single base substitution A G intron_variant BRCA-EU 17 78878885 78878885 deletion of <=200bp C - intron_variant BRCA-EU 17 78879637 78879637 single base substitution C G intron_variant BRCA-EU 17 78879646 78879646 single base substitution G A intron_variant BRCA-EU 17 78880131 78880131 single base substitution G T intron_variant BRCA-EU 17 78882896 78882897 deletion of <=200bp TG - intron_variant BRCA-EU 17 78883439 78883439 single base substitution G A exon_variant BRCA-EU 17 78883439 78883439 single base substitution G A intron_variant BRCA-EU 17 78884433 78884433 single base substitution A G downstream_gene_variant BRCA-EU 17 78884433 78884433 single base substitution A G intron_variant BRCA-EU 17 78884867 78884867 single base substitution G A downstream_gene_variant BRCA-EU 17 78884867 78884867 single base substitution G A intron_variant BRCA-EU 17 78885373 78885373 single base substitution C T downstream_gene_variant BRCA-EU 17 78885373 78885373 single base substitution C T intron_variant BRCA-EU 17 78885755 78885755 single base substitution C T downstream_gene_variant BRCA-EU 17 78885755 78885755 single base substitution C T intron_variant BRCA-EU 17 78887094 78887094 single base substitution C G downstream_gene_variant BRCA-EU 17 78887094 78887094 single base substitution C G intron_variant BRCA-EU 17 78887712 78887712 single base substitution A C downstream_gene_variant BRCA-EU 17 78887712 78887712 single base substitution A C intron_variant BRCA-EU 17 78887887 78887887 single base substitution G A downstream_gene_variant BRCA-EU 17 78887887 78887887 single base substitution G A intron_variant BRCA-EU 17 78888740 78888740 single base substitution C A intron_variant BRCA-EU 17 78888996 78888996 single base substitution G A intron_variant BRCA-EU 17 78889503 78889503 single base substitution A C intron_variant BRCA-EU 17 78890019 78890019 single base substitution G A intron_variant BRCA-EU 17 78890509 78890509 single base substitution A G intron_variant BRCA-EU 17 78892851 78892851 single base substitution G A intron_variant BRCA-EU 17 78892851 78892851 single base substitution G A upstream_gene_variant BRCA-EU 17 78893182 78893182 single base substitution G C intron_variant BRCA-EU 17 78893182 78893182 single base substitution G C upstream_gene_variant BRCA-EU 17 78893365 78893365 deletion of <=200bp C - intron_variant BRCA-EU 17 78893365 78893365 deletion of <=200bp C - upstream_gene_variant BRCA-EU 17 78893977 78893977 single base substitution C T intron_variant BRCA-EU 17 78893977 78893977 single base substitution C T upstream_gene_variant BRCA-EU 17 78894625 78894625 single base substitution T C intron_variant BRCA-EU 17 78894625 78894625 single base substitution T C upstream_gene_variant BRCA-EU 17 78898843 78898843 single base substitution G A downstream_gene_variant BRCA-EU 17 78898843 78898843 single base substitution G A intron_variant BRCA-EU 17 78899260 78899260 single base substitution T G downstream_gene_variant BRCA-EU 17 78899260 78899260 single base substitution T G exon_variant BRCA-EU 17 78899260 78899260 single base substitution T G missense_variant F809V 2425T>G BRCA-EU 17 78899260 78899260 single base substitution T G missense_variant F967V 2899T>G BRCA-EU 17 78899265 78899265 single base substitution C G downstream_gene_variant BRCA-EU 17 78899265 78899265 single base substitution C G exon_variant BRCA-EU 17 78899265 78899265 single base substitution C G synonymous_variant A810A 2430C>G BRCA-EU 17 78899265 78899265 single base substitution C G synonymous_variant A968A 2904C>G BRCA-EU 17 78900550 78900550 single base substitution G C downstream_gene_variant BRCA-EU 17 78900550 78900550 single base substitution G C intron_variant BRCA-EU 17 78903286 78903286 single base substitution G T intron_variant BRCA-EU 17 78903364 78903364 single base substitution G T intron_variant BRCA-EU 17 78905801 78905801 single base substitution G A intron_variant BRCA-EU 17 78905826 78905826 single base substitution C G intron_variant BRCA-EU 17 78905886 78905886 single base substitution G C intron_variant BRCA-EU 17 78906121 78906121 single base substitution C T intron_variant BRCA-EU 17 78906433 78906433 single base substitution T G intron_variant BRCA-EU 17 78906971 78906971 single base substitution T A intron_variant BRCA-EU 17 78907507 78907507 single base substitution C G intron_variant BRCA-EU 17 78907644 78907644 single base substitution G A intron_variant BRCA-EU 17 78908147 78908147 single base substitution A G intron_variant BRCA-EU 17 78908164 78908164 single base substitution T C intron_variant BRCA-EU 17 78908177 78908177 single base substitution G C intron_variant BRCA-EU 17 78909652 78909652 single base substitution G C intron_variant BRCA-EU 17 78910551 78910551 single base substitution C T intron_variant BRCA-EU 17 78910597 78910597 single base substitution G C intron_variant BRCA-EU 17 78910808 78910808 single base substitution C T intron_variant BRCA-EU 17 78911141 78911141 single base substitution G C intron_variant BRCA-EU 17 78911544 78911544 single base substitution T G intron_variant BRCA-EU 17 78911901 78911901 single base substitution C T intron_variant BRCA-EU 17 78912609 78912609 single base substitution G T intron_variant BRCA-EU 17 78912768 78912768 single base substitution G A intron_variant BRCA-EU 17 78912769 78912769 single base substitution C A intron_variant BRCA-EU 17 78915094 78915094 single base substitution G A intron_variant BRCA-EU 17 78915094 78915094 single base substitution G A upstream_gene_variant BRCA-EU 17 78915120 78915120 single base substitution G A intron_variant BRCA-EU 17 78915120 78915120 single base substitution G A upstream_gene_variant BRCA-EU 17 78915328 78915328 deletion of <=200bp C - intron_variant BRCA-EU 17 78915328 78915328 deletion of <=200bp C - upstream_gene_variant BRCA-EU 17 78916276 78916276 single base substitution C G intron_variant BRCA-EU 17 78916276 78916276 single base substitution C G upstream_gene_variant BRCA-EU 17 78918218 78918218 single base substitution A G intron_variant BRCA-EU 17 78918218 78918218 single base substitution A G upstream_gene_variant BRCA-EU 17 78921211 78921211 single base substitution G C intron_variant BRCA-EU 17 78921211 78921211 single base substitution G C upstream_gene_variant BRCA-EU 17 78922200 78922200 single base substitution A G intron_variant BRCA-EU 17 78922200 78922200 single base substitution A G upstream_gene_variant BRCA-EU 17 78923307 78923307 single base substitution C T exon_variant BRCA-EU 17 78923307 78923307 single base substitution C T synonymous_variant T1110T 3330C>T BRCA-EU 17 78923307 78923307 single base substitution C T synonymous_variant T952T 2856C>T BRCA-EU 17 78923819 78923819 single base substitution G T downstream_gene_variant BRCA-EU 17 78923819 78923819 single base substitution G T intron_variant BRCA-EU 17 78924577 78924577 single base substitution C T downstream_gene_variant BRCA-EU 17 78924577 78924577 single base substitution C T intron_variant BRCA-EU 17 78924999 78924999 single base substitution G C downstream_gene_variant BRCA-EU 17 78924999 78924999 single base substitution G C intron_variant BRCA-EU 17 78927013 78927013 single base substitution G T downstream_gene_variant BRCA-EU 17 78927013 78927013 single base substitution G T intron_variant BRCA-EU 17 78932125 78932125 single base substitution C T intron_variant BRCA-EU 17 78932339 78932339 single base substitution T C intron_variant BRCA-EU 17 78932984 78932984 single base substitution C G intron_variant BRCA-EU 17 78934594 78934594 single base substitution C T intron_variant BRCA-EU 17 78934643 78934643 single base substitution C T intron_variant BRCA-EU 17 78935441 78935441 single base substitution G A downstream_gene_variant BRCA-EU 17 78935441 78935441 single base substitution G A intron_variant BRCA-EU 17 78935828 78935828 single base substitution G C downstream_gene_variant BRCA-EU 17 78935828 78935828 single base substitution G C intron_variant BRCA-EU 17 78936033 78936033 single base substitution G C downstream_gene_variant BRCA-EU 17 78936033 78936033 single base substitution G C intron_variant BRCA-EU 17 78936584 78936584 single base substitution G C downstream_gene_variant BRCA-EU 17 78936584 78936584 single base substitution G C intron_variant BRCA-EU 17 78937040 78937040 single base substitution C G downstream_gene_variant BRCA-EU 17 78937040 78937040 single base substitution C G intron_variant BRCA-EU 17 78937190 78937190 single base substitution C T downstream_gene_variant BRCA-EU 17 78937190 78937190 single base substitution C T intron_variant BRCA-EU 17 78938131 78938131 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 78938131 78938131 single base substitution C T downstream_gene_variant BRCA-EU 17 78938131 78938131 single base substitution C T exon_variant BRCA-EU 17 78938372 78938372 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 78938372 78938372 single base substitution C T downstream_gene_variant BRCA-EU 17 78938372 78938372 single base substitution C T exon_variant BRCA-EU 17 78938617 78938617 single base substitution A G 3_prime_UTR_variant BRCA-EU 17 78938617 78938617 single base substitution A G downstream_gene_variant BRCA-EU 17 78938617 78938617 single base substitution A G exon_variant BRCA-EU 17 78942387 78942387 single base substitution C A downstream_gene_variant BRCA-EU 17 78943322 78943322 single base substitution G A downstream_gene_variant BRCA-EU 17 78943796 78943796 single base substitution C T downstream_gene_variant BRCA-EU 17 78944040 78944040 single base substitution C A downstream_gene_variant BRCA-FR 17 78524940 78524940 single base substitution C T intron_variant BRCA-FR 17 78532681 78532681 single base substitution C G intron_variant BRCA-FR 17 78536665 78536665 single base substitution C G intron_variant BRCA-FR 17 78536902 78536902 single base substitution C T intron_variant BRCA-FR 17 78536944 78536944 single base substitution C T intron_variant BRCA-FR 17 78558505 78558505 single base substitution C T intron_variant BRCA-FR 17 78562070 78562070 single base substitution C T intron_variant BRCA-FR 17 78563134 78563134 single base substitution C A intron_variant BRCA-FR 17 78564481 78564481 single base substitution C G intron_variant BRCA-FR 17 78567329 78567329 single base substitution A C exon_variant BRCA-FR 17 78567329 78567329 single base substitution A C intron_variant BRCA-FR 17 78573994 78573994 single base substitution C T intron_variant BRCA-FR 17 78579247 78579247 single base substitution A G intron_variant BRCA-FR 17 78582536 78582536 single base substitution G A intron_variant BRCA-FR 17 78598944 78598944 single base substitution G C intron_variant BRCA-FR 17 78601102 78601102 single base substitution G T intron_variant BRCA-FR 17 78605555 78605555 single base substitution C G intron_variant BRCA-FR 17 78611279 78611279 single base substitution C T intron_variant BRCA-FR 17 78613770 78613770 single base substitution C T intron_variant BRCA-FR 17 78628721 78628721 single base substitution A G intron_variant BRCA-FR 17 78636253 78636253 single base substitution C T intron_variant BRCA-FR 17 78638159 78638159 single base substitution C T intron_variant BRCA-FR 17 78638965 78638965 single base substitution G C intron_variant BRCA-FR 17 78642603 78642603 single base substitution C G intron_variant BRCA-FR 17 78643475 78643475 single base substitution G A intron_variant BRCA-FR 17 78644382 78644382 single base substitution C G intron_variant BRCA-FR 17 78645385 78645385 single base substitution C G intron_variant BRCA-FR 17 78649310 78649310 single base substitution C T intron_variant BRCA-FR 17 78650568 78650568 single base substitution C T intron_variant BRCA-FR 17 78654018 78654018 single base substitution C T intron_variant BRCA-FR 17 78661363 78661363 single base substitution C G intron_variant BRCA-FR 17 78662303 78662303 single base substitution C T intron_variant BRCA-FR 17 78672307 78672307 single base substitution C G intron_variant BRCA-FR 17 78674800 78674800 single base substitution G A intron_variant BRCA-FR 17 78684847 78684847 single base substitution C T intron_variant BRCA-FR 17 78693129 78693129 single base substitution C G intron_variant BRCA-FR 17 78698451 78698451 single base substitution C T intron_variant BRCA-FR 17 78711962 78711962 single base substitution C T intron_variant BRCA-FR 17 78714004 78714004 single base substitution G C intron_variant BRCA-FR 17 78714004 78714004 single base substitution G C upstream_gene_variant BRCA-FR 17 78715545 78715545 single base substitution G C intron_variant BRCA-FR 17 78715545 78715545 single base substitution G C upstream_gene_variant BRCA-FR 17 78719630 78719630 single base substitution G C intron_variant BRCA-FR 17 78721185 78721185 single base substitution G C intron_variant BRCA-FR 17 78721457 78721457 single base substitution G A intron_variant BRCA-FR 17 78734353 78734353 single base substitution C G intron_variant BRCA-FR 17 78735477 78735477 single base substitution G A intron_variant BRCA-FR 17 78743052 78743052 single base substitution G A intron_variant BRCA-FR 17 78748661 78748661 single base substitution C G intron_variant BRCA-FR 17 78759537 78759537 single base substitution G A intron_variant BRCA-FR 17 78771146 78771146 single base substitution C T intron_variant BRCA-FR 17 78776784 78776784 single base substitution G A intron_variant BRCA-FR 17 78778603 78778603 single base substitution C T intron_variant BRCA-FR 17 78782375 78782375 single base substitution G C intron_variant BRCA-FR 17 78786862 78786862 single base substitution T C intron_variant BRCA-FR 17 78793822 78793822 single base substitution A G intron_variant BRCA-FR 17 78795101 78795101 single base substitution G A intron_variant BRCA-FR 17 78810764 78810764 single base substitution G C intron_variant BRCA-FR 17 78813828 78813828 single base substitution G C intron_variant BRCA-FR 17 78815990 78815990 single base substitution G A intron_variant BRCA-FR 17 78816129 78816129 single base substitution A G intron_variant BRCA-FR 17 78816628 78816628 single base substitution C T intron_variant BRCA-FR 17 78824086 78824086 single base substitution C G intron_variant BRCA-FR 17 78825388 78825388 single base substitution A G intron_variant BRCA-FR 17 78830983 78830983 single base substitution C G intron_variant BRCA-FR 17 78840208 78840208 single base substitution G A intron_variant BRCA-FR 17 78848422 78848422 single base substitution T A intron_variant BRCA-FR 17 78851257 78851257 single base substitution G C intron_variant BRCA-FR 17 78853443 78853443 single base substitution G A intron_variant BRCA-FR 17 78867587 78867587 single base substitution G C exon_variant BRCA-FR 17 78867587 78867587 single base substitution G C missense_variant E617Q 1849G>C BRCA-FR 17 78867587 78867587 single base substitution G C missense_variant E775Q 2323G>C BRCA-FR 17 78873544 78873544 single base substitution G C intron_variant BRCA-FR 17 78875102 78875102 single base substitution C G intron_variant BRCA-FR 17 78888740 78888740 single base substitution C A intron_variant BRCA-FR 17 78893182 78893182 single base substitution G C intron_variant BRCA-FR 17 78893182 78893182 single base substitution G C upstream_gene_variant BRCA-FR 17 78894625 78894625 single base substitution T C intron_variant BRCA-FR 17 78894625 78894625 single base substitution T C upstream_gene_variant BRCA-FR 17 78895219 78895219 single base substitution C T intron_variant BRCA-FR 17 78895219 78895219 single base substitution C T upstream_gene_variant BRCA-FR 17 78903553 78903553 single base substitution G A intron_variant BRCA-FR 17 78923819 78923819 single base substitution G T downstream_gene_variant BRCA-FR 17 78923819 78923819 single base substitution G T intron_variant BRCA-FR 17 78927840 78927840 single base substitution C T downstream_gene_variant BRCA-FR 17 78927840 78927840 single base substitution C T intron_variant BRCA-FR 17 78936033 78936033 single base substitution G C downstream_gene_variant BRCA-FR 17 78936033 78936033 single base substitution G C intron_variant BRCA-KR 17 78933988 78933988 single base substitution G C exon_variant BRCA-KR 17 78933988 78933988 single base substitution G C missense_variant R1038S 3114G>C BRCA-KR 17 78933988 78933988 single base substitution G C missense_variant R1196S 3588G>C BRCA-KR 17 78938010 78938010 single base substitution G C downstream_gene_variant BRCA-KR 17 78938010 78938010 single base substitution G C intron_variant BRCA-UK 17 78519444 78519444 single base substitution G A 5_prime_UTR_variant BRCA-UK 17 78519444 78519444 single base substitution G A exon_variant BRCA-UK 17 78519444 78519444 single base substitution G A missense_variant M5I 15G>A BRCA-UK 17 78519444 78519444 single base substitution G A upstream_gene_variant BRCA-UK 17 78544639 78544639 single base substitution A T intron_variant BRCA-UK 17 78561028 78561028 single base substitution C T intron_variant BRCA-UK 17 78577728 78577728 single base substitution C T intron_variant BRCA-UK 17 78582255 78582255 single base substitution C T intron_variant BRCA-UK 17 78583280 78583280 single base substitution T G intron_variant BRCA-UK 17 78585380 78585380 single base substitution G A intron_variant BRCA-UK 17 78595025 78595025 single base substitution C A intron_variant BRCA-UK 17 78607223 78607223 single base substitution C T intron_variant BRCA-UK 17 78607544 78607544 single base substitution C T intron_variant BRCA-UK 17 78618763 78618763 single base substitution C G intron_variant BRCA-UK 17 78643675 78643675 single base substitution C G intron_variant BRCA-UK 17 78644588 78644588 single base substitution C A intron_variant BRCA-UK 17 78653147 78653147 single base substitution G T intron_variant BRCA-UK 17 78655532 78655532 single base substitution T A intron_variant BRCA-UK 17 78673174 78673174 single base substitution A G intron_variant BRCA-UK 17 78688086 78688086 single base substitution A T intron_variant BRCA-UK 17 78701172 78701172 single base substitution C A intron_variant BRCA-UK 17 78705009 78705009 single base substitution C G intron_variant BRCA-UK 17 78706433 78706433 single base substitution C T intron_variant BRCA-UK 17 78709385 78709385 single base substitution C T intron_variant BRCA-UK 17 78709769 78709769 single base substitution C G intron_variant BRCA-UK 17 78711676 78711676 single base substitution G T intron_variant BRCA-UK 17 78712249 78712249 single base substitution C T intron_variant BRCA-UK 17 78712249 78712249 single base substitution C T upstream_gene_variant BRCA-UK 17 78717922 78717922 single base substitution C T intron_variant BRCA-UK 17 78718104 78718104 single base substitution C G intron_variant BRCA-UK 17 78718120 78718120 single base substitution C T intron_variant BRCA-UK 17 78718729 78718729 single base substitution T G intron_variant BRCA-UK 17 78727613 78727613 single base substitution G A intron_variant BRCA-UK 17 78762758 78762758 single base substitution G C intron_variant BRCA-UK 17 78779763 78779763 single base substitution A G intron_variant BRCA-UK 17 78785376 78785376 single base substitution T C intron_variant BRCA-UK 17 78785402 78785402 single base substitution A C intron_variant BRCA-UK 17 78803258 78803258 single base substitution G C intron_variant BRCA-UK 17 78809098 78809098 deletion of <=200bp C - intron_variant BRCA-UK 17 78836074 78836074 single base substitution G A downstream_gene_variant BRCA-UK 17 78836074 78836074 single base substitution G A intron_variant BRCA-UK 17 78839583 78839583 single base substitution G C intron_variant BRCA-UK 17 78852887 78852887 single base substitution G A intron_variant BRCA-UK 17 78886736 78886736 single base substitution T A downstream_gene_variant BRCA-UK 17 78886736 78886736 single base substitution T A intron_variant BRCA-UK 17 78903364 78903364 single base substitution G T intron_variant BRCA-UK 17 78911141 78911141 single base substitution G C intron_variant BRCA-US 17 78519122 78519122 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 17 78519122 78519122 single base substitution C T exon_variant BRCA-US 17 78519122 78519122 single base substitution C T upstream_gene_variant BRCA-US 17 78682756 78682756 single base substitution G A exon_variant BRCA-US 17 78682756 78682756 single base substitution G A intron_variant BRCA-US 17 78704422 78704422 single base substitution G T 3_prime_UTR_variant BRCA-US 17 78704422 78704422 single base substitution G T exon_variant BRCA-US 17 78704422 78704422 single base substitution G T synonymous_variant S190S 570G>T BRCA-US 17 78704422 78704422 single base substitution G T synonymous_variant S5S 15G>T BRCA-US 17 78796975 78796975 single base substitution C T 3_prime_UTR_variant BRCA-US 17 78796975 78796975 single base substitution C T exon_variant BRCA-US 17 78796975 78796975 single base substitution C T missense_variant T178I 533C>T BRCA-US 17 78796975 78796975 single base substitution C T missense_variant T363I 1088C>T BRCA-US 17 78811744 78811744 single base substitution G C 3_prime_UTR_variant BRCA-US 17 78811744 78811744 single base substitution G C exon_variant BRCA-US 17 78811744 78811744 single base substitution G C missense_variant D202H 604G>C BRCA-US 17 78811744 78811744 single base substitution G C missense_variant D387H 1159G>C BRCA-US 17 78811786 78811786 single base substitution A T 3_prime_UTR_variant BRCA-US 17 78811786 78811786 single base substitution A T exon_variant BRCA-US 17 78811786 78811786 single base substitution A T missense_variant T216S 646A>T BRCA-US 17 78811786 78811786 single base substitution A T missense_variant T401S 1201A>T BRCA-US 17 78820339 78820339 single base substitution C T 3_prime_UTR_variant BRCA-US 17 78820339 78820339 single base substitution C T exon_variant BRCA-US 17 78820339 78820339 single base substitution C T stop_gained R242* 724C>T BRCA-US 17 78820339 78820339 single base substitution C T stop_gained R427* 1279C>T BRCA-US 17 78831617 78831617 single base substitution G T 3_prime_UTR_variant BRCA-US 17 78831617 78831617 single base substitution G T exon_variant BRCA-US 17 78831617 78831617 single base substitution G T missense_variant V291L 871G>T BRCA-US 17 78831617 78831617 single base substitution G T missense_variant V476L 1426G>T BRCA-US 17 78865584 78865584 single base substitution T C exon_variant BRCA-US 17 78865584 78865584 single base substitution T C missense_variant L525P 1574T>C BRCA-US 17 78865584 78865584 single base substitution T C missense_variant L683P 2048T>C BRCA-US 17 78867510 78867510 single base substitution G T exon_variant BRCA-US 17 78867510 78867510 single base substitution G T missense_variant G591V 1772G>T BRCA-US 17 78867510 78867510 single base substitution G T missense_variant G749V 2246G>T BRCA-US 17 78867561 78867561 single base substitution G C exon_variant BRCA-US 17 78867561 78867561 single base substitution G C missense_variant S608T 1823G>C BRCA-US 17 78867561 78867561 single base substitution G C missense_variant S766T 2297G>C BRCA-US 17 78897383 78897383 single base substitution G A exon_variant BRCA-US 17 78897383 78897383 single base substitution G A synonymous_variant P66P 198G>A BRCA-US 17 78897383 78897383 single base substitution G A synonymous_variant P748P 2244G>A BRCA-US 17 78897383 78897383 single base substitution G A synonymous_variant P906P 2718G>A BRCA-US 17 78897547 78897547 single base substitution C T intron_variant BRCA-US 17 78897547 78897547 single base substitution C T missense_variant A121V 362C>T BRCA-US 17 78923268 78923268 single base substitution G A exon_variant BRCA-US 17 78923268 78923268 single base substitution G A synonymous_variant K1097K 3291G>A BRCA-US 17 78923268 78923268 single base substitution G A synonymous_variant K939K 2817G>A BRCA-US 17 78931483 78931483 single base substitution G A exon_variant BRCA-US 17 78931483 78931483 single base substitution G A missense_variant V1144M 3430G>A BRCA-US 17 78931483 78931483 single base substitution G A missense_variant V986M 2956G>A BRCA-US 17 78933918 78933918 deletion of <=200bp C - exon_variant BRCA-US 17 78933918 78933918 deletion of <=200bp C - frameshift_variant S1015 BRCA-US 17 78933918 78933918 deletion of <=200bp C - frameshift_variant S1173 BRCA-US 17 78936301 78936301 single base substitution G A downstream_gene_variant BRCA-US 17 78936301 78936301 single base substitution G A exon_variant BRCA-US 17 78936301 78936301 single base substitution G A missense_variant E1087K 3259G>A BRCA-US 17 78936301 78936301 single base substitution G A missense_variant E1245K 3733G>A BTCA-JP 17 78820261 78820261 single base substitution C T intron_variant BTCA-JP 17 78820352 78820352 single base substitution A G 3_prime_UTR_variant BTCA-JP 17 78820352 78820352 single base substitution A G exon_variant BTCA-JP 17 78820352 78820352 single base substitution A G missense_variant E246G 737A>G BTCA-JP 17 78820352 78820352 single base substitution A G missense_variant E431G 1292A>G BTCA-JP 17 78831864 78831864 single base substitution G A 3_prime_UTR_variant BTCA-JP 17 78831864 78831864 single base substitution G A intron_variant BTCA-JP 17 78857116 78857116 single base substitution C T intron_variant BTCA-JP 17 78858927 78858927 single base substitution C T exon_variant BTCA-JP 17 78858927 78858927 single base substitution C T intron_variant BTCA-JP 17 78858927 78858927 single base substitution C T synonymous_variant D654D 1962C>T BTCA-JP 17 78897332 78897332 single base substitution C T exon_variant BTCA-JP 17 78897332 78897332 single base substitution C T synonymous_variant T49T 147C>T BTCA-JP 17 78897332 78897332 single base substitution C T synonymous_variant T731T 2193C>T BTCA-JP 17 78897332 78897332 single base substitution C T synonymous_variant T889T 2667C>T BTCA-JP 17 78936654 78936654 single base substitution G T downstream_gene_variant BTCA-JP 17 78936654 78936654 single base substitution G T intron_variant BTCA-JP 17 78938087 78938087 single base substitution A G downstream_gene_variant BTCA-JP 17 78938087 78938087 single base substitution A G exon_variant BTCA-JP 17 78938087 78938087 single base substitution A G missense_variant D1164G 3491A>G BTCA-JP 17 78938087 78938087 single base substitution A G missense_variant D1322G 3965A>G CESC-US 17 78518703 78518703 single base substitution G C 5_prime_UTR_variant CESC-US 17 78518703 78518703 single base substitution G C exon_variant CESC-US 17 78518703 78518703 single base substitution G C upstream_gene_variant CESC-US 17 78681708 78681708 single base substitution G A 3_prime_UTR_variant CESC-US 17 78681708 78681708 single base substitution G A 5_prime_UTR_variant CESC-US 17 78681708 78681708 single base substitution G A exon_variant CESC-US 17 78681708 78681708 single base substitution G A missense_variant R139H 416G>A CESC-US 17 78681708 78681708 single base substitution G A upstream_gene_variant CESC-US 17 78796982 78796982 single base substitution C T 3_prime_UTR_variant CESC-US 17 78796982 78796982 single base substitution C T exon_variant CESC-US 17 78796982 78796982 single base substitution C T synonymous_variant V180V 540C>T CESC-US 17 78796982 78796982 single base substitution C T synonymous_variant V365V 1095C>T CESC-US 17 78796986 78796986 single base substitution A T 3_prime_UTR_variant CESC-US 17 78796986 78796986 single base substitution A T exon_variant CESC-US 17 78796986 78796986 single base substitution A T missense_variant S182C 544A>T CESC-US 17 78796986 78796986 single base substitution A T missense_variant S367C 1099A>T CESC-US 17 78857241 78857241 single base substitution C T exon_variant CESC-US 17 78857241 78857241 single base substitution C T intron_variant CESC-US 17 78857241 78857241 single base substitution C T missense_variant A536V 1607C>T CESC-US 17 78858868 78858868 single base substitution G A exon_variant CESC-US 17 78858868 78858868 single base substitution G A intron_variant CESC-US 17 78858868 78858868 single base substitution G A missense_variant D635N 1903G>A CESC-US 17 78866583 78866583 single base substitution C T exon_variant CESC-US 17 78866583 78866583 single base substitution C T missense_variant S561F 1682C>T CESC-US 17 78866583 78866583 single base substitution C T missense_variant S719F 2156C>T CESC-US 17 78939906 78939906 single base substitution G A 3_prime_UTR_variant CESC-US 17 78939906 78939906 single base substitution G A downstream_gene_variant CESC-US 17 78939906 78939906 single base substitution G A exon_variant CLLE-ES 17 78517256 78517256 single base substitution C T upstream_gene_variant CLLE-ES 17 78524781 78524781 single base substitution G A intron_variant CLLE-ES 17 78539383 78539383 single base substitution C T intron_variant CLLE-ES 17 78558302 78558302 single base substitution G T intron_variant CLLE-ES 17 78610107 78610107 single base substitution C T intron_variant CLLE-ES 17 78615922 78615922 single base substitution A G intron_variant CLLE-ES 17 78620756 78620756 single base substitution G A intron_variant CLLE-ES 17 78637962 78637962 single base substitution C T intron_variant CLLE-ES 17 78659592 78659592 single base substitution T G intron_variant CLLE-ES 17 78660640 78660640 single base substitution G A intron_variant CLLE-ES 17 78673393 78673393 single base substitution A G intron_variant CLLE-ES 17 78685692 78685692 single base substitution C T intron_variant CLLE-ES 17 78695141 78695141 single base substitution G A intron_variant CLLE-ES 17 78701061 78701061 single base substitution A G intron_variant CLLE-ES 17 78712374 78712374 insertion of <=200bp - AA intron_variant CLLE-ES 17 78712374 78712374 insertion of <=200bp - AA upstream_gene_variant CLLE-ES 17 78713307 78713307 single base substitution C T intron_variant CLLE-ES 17 78713307 78713307 single base substitution C T upstream_gene_variant CLLE-ES 17 78721902 78721902 single base substitution G C intron_variant CLLE-ES 17 78725608 78725608 single base substitution T A intron_variant CLLE-ES 17 78754637 78754637 single base substitution A T intron_variant CLLE-ES 17 78767528 78767528 single base substitution C T intron_variant CLLE-ES 17 78767814 78767814 single base substitution G A intron_variant CLLE-ES 17 78772234 78772234 single base substitution T C intron_variant CLLE-ES 17 78775051 78775051 single base substitution G A intron_variant CLLE-ES 17 78775421 78775421 single base substitution A T intron_variant CLLE-ES 17 78797157 78797157 single base substitution A T 3_prime_UTR_variant CLLE-ES 17 78797157 78797157 single base substitution A T intron_variant CLLE-ES 17 78803725 78803725 single base substitution G A intron_variant CLLE-ES 17 78812557 78812557 single base substitution G A intron_variant CLLE-ES 17 78815389 78815389 single base substitution C A intron_variant CLLE-ES 17 78825370 78825370 single base substitution A T intron_variant CLLE-ES 17 78848527 78848527 single base substitution T A intron_variant CLLE-ES 17 78856664 78856664 single base substitution A G intron_variant CLLE-ES 17 78879613 78879613 single base substitution G C intron_variant CLLE-ES 17 78880041 78880041 single base substitution G A intron_variant CLLE-ES 17 78883020 78883020 single base substitution C T intron_variant CLLE-ES 17 78884874 78884874 single base substitution G A downstream_gene_variant CLLE-ES 17 78884874 78884874 single base substitution G A intron_variant CLLE-ES 17 78894845 78894845 single base substitution G A intron_variant CLLE-ES 17 78894845 78894845 single base substitution G A upstream_gene_variant CLLE-ES 17 78897547 78897547 single base substitution C T intron_variant CLLE-ES 17 78897547 78897547 single base substitution C T missense_variant A121V 362C>T CLLE-ES 17 78904229 78904229 insertion of <=200bp - CCCCA intron_variant CLLE-ES 17 78923951 78923951 single base substitution C G downstream_gene_variant CLLE-ES 17 78923951 78923951 single base substitution C G intron_variant CLLE-ES 17 78943389 78943389 single base substitution C T downstream_gene_variant COAD-US 17 78617543 78617543 single base substitution G A exon_variant COAD-US 17 78617543 78617543 single base substitution G A intron_variant COAD-US 17 78617543 78617543 single base substitution G A missense_variant G94D 281G>A COAD-US 17 78681644 78681644 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COAD-US 17 78681644 78681644 single base substitution C T exon_variant COAD-US 17 78681644 78681644 single base substitution C T missense_variant R118W 352C>T COAD-US 17 78681644 78681644 single base substitution C T upstream_gene_variant COAD-US 17 78796989 78796989 single base substitution C T 3_prime_UTR_variant COAD-US 17 78796989 78796989 single base substitution C T exon_variant COAD-US 17 78796989 78796989 single base substitution C T missense_variant P183S 547C>T COAD-US 17 78796989 78796989 single base substitution C T missense_variant P368S 1102C>T COAD-US 17 78820329 78820329 single base substitution C T 3_prime_UTR_variant COAD-US 17 78820329 78820329 single base substitution C T exon_variant COAD-US 17 78820329 78820329 single base substitution C T synonymous_variant G238G 714C>T COAD-US 17 78820329 78820329 single base substitution C T synonymous_variant G423G 1269C>T COAD-US 17 78854223 78854223 single base substitution A G exon_variant COAD-US 17 78854223 78854223 single base substitution A G intron_variant COAD-US 17 78854223 78854223 single base substitution A G synonymous_variant Q506Q 1518A>G COAD-US 17 78857732 78857732 single base substitution A G exon_variant COAD-US 17 78857732 78857732 single base substitution A G intron_variant COAD-US 17 78857732 78857732 single base substitution A G missense_variant H601R 1802A>G COAD-US 17 78865546 78865546 single base substitution T C exon_variant COAD-US 17 78865546 78865546 single base substitution T C synonymous_variant L512L 1536T>C COAD-US 17 78865546 78865546 single base substitution T C synonymous_variant L670L 2010T>C COAD-US 17 78867580 78867580 single base substitution C T exon_variant COAD-US 17 78867580 78867580 single base substitution C T synonymous_variant P614P 1842C>T COAD-US 17 78867580 78867580 single base substitution C T synonymous_variant P772P 2316C>T COAD-US 17 78896529 78896529 single base substitution C T exon_variant COAD-US 17 78896529 78896529 single base substitution C T synonymous_variant T2T 6C>T COAD-US 17 78896529 78896529 single base substitution C T synonymous_variant T684T 2052C>T COAD-US 17 78896529 78896529 single base substitution C T synonymous_variant T842T 2526C>T COAD-US 17 78899218 78899218 single base substitution G A downstream_gene_variant COAD-US 17 78899218 78899218 single base substitution G A exon_variant COAD-US 17 78899218 78899218 single base substitution G A missense_variant A795T 2383G>A COAD-US 17 78899218 78899218 single base substitution G A missense_variant A953T 2857G>A COAD-US 17 78899222 78899222 single base substitution C T downstream_gene_variant COAD-US 17 78899222 78899222 single base substitution C T exon_variant COAD-US 17 78899222 78899222 single base substitution C T missense_variant T796M 2387C>T COAD-US 17 78899222 78899222 single base substitution C T missense_variant T954M 2861C>T COAD-US 17 78899240 78899240 single base substitution G A downstream_gene_variant COAD-US 17 78899240 78899240 single base substitution G A exon_variant COAD-US 17 78899240 78899240 single base substitution G A missense_variant C802Y 2405G>A COAD-US 17 78899240 78899240 single base substitution G A missense_variant C960Y 2879G>A COAD-US 17 78914365 78914365 single base substitution C T exon_variant COAD-US 17 78914365 78914365 single base substitution C T missense_variant R839C 2515C>T COAD-US 17 78914365 78914365 single base substitution C T missense_variant R997C 2989C>T COAD-US 17 78921117 78921117 single base substitution C T exon_variant COAD-US 17 78921117 78921117 single base substitution C T synonymous_variant N1077N 3231C>T COAD-US 17 78921117 78921117 single base substitution C T synonymous_variant N919N 2757C>T COAD-US 17 78921117 78921117 single base substitution C T upstream_gene_variant COAD-US 17 78936325 78936325 single base substitution G C downstream_gene_variant COAD-US 17 78936325 78936325 single base substitution G C exon_variant COAD-US 17 78936325 78936325 single base substitution G C missense_variant V1095L 3283G>C COAD-US 17 78936325 78936325 single base substitution G C missense_variant V1253L 3757G>C COCA-CN 17 78717847 78717847 single base substitution T G intron_variant COCA-CN 17 78718009 78718009 single base substitution T G intron_variant COCA-CN 17 78718095 78718095 single base substitution C T intron_variant COCA-CN 17 78718239 78718239 single base substitution C T intron_variant COCA-CN 17 78718347 78718347 single base substitution C T intron_variant COCA-CN 17 78718639 78718639 single base substitution T G intron_variant COCA-CN 17 78718707 78718707 single base substitution C T intron_variant COCA-CN 17 78765197 78765197 single base substitution T G intron_variant COCA-CN 17 78785419 78785419 single base substitution C A intron_variant COCA-CN 17 78795919 78795919 single base substitution G A intron_variant COCA-CN 17 78796153 78796153 single base substitution G A intron_variant COCA-CN 17 78815037 78815037 single base substitution G A intron_variant COCA-CN 17 78829174 78829174 single base substitution C T intron_variant COCA-CN 17 78829267 78829267 single base substitution C T 3_prime_UTR_variant COCA-CN 17 78829267 78829267 single base substitution C T exon_variant COCA-CN 17 78829267 78829267 single base substitution C T synonymous_variant L255L 763C>T COCA-CN 17 78829267 78829267 single base substitution C T synonymous_variant L440L 1318C>T COCA-CN 17 78829351 78829351 single base substitution C T splice_region_variant COCA-CN 17 78849698 78849698 single base substitution A G intron_variant COCA-CN 17 78849728 78849728 single base substitution G A intron_variant COCA-CN 17 78857112 78857112 single base substitution T G intron_variant COCA-CN 17 78857394 78857394 single base substitution G T intron_variant COCA-CN 17 78857713 78857713 single base substitution G T exon_variant COCA-CN 17 78857713 78857713 single base substitution G T intron_variant COCA-CN 17 78857713 78857713 single base substitution G T missense_variant G595C 1783G>T COCA-CN 17 78858829 78858829 single base substitution G A exon_variant COCA-CN 17 78858829 78858829 single base substitution G A intron_variant COCA-CN 17 78858829 78858829 single base substitution G A missense_variant A622T 1864G>A COCA-CN 17 78865510 78865510 single base substitution C G intron_variant COCA-CN 17 78865693 78865693 single base substitution A G intron_variant COCA-CN 17 78867627 78867627 single base substitution G A exon_variant COCA-CN 17 78867627 78867627 single base substitution G A missense_variant R630H 1889G>A COCA-CN 17 78867627 78867627 single base substitution G A missense_variant R788H 2363G>A COCA-CN 17 78882840 78882840 single base substitution A G intron_variant COCA-CN 17 78896571 78896571 single base substitution C T exon_variant COCA-CN 17 78896571 78896571 single base substitution C T synonymous_variant L16L 48C>T COCA-CN 17 78896571 78896571 single base substitution C T synonymous_variant L698L 2094C>T COCA-CN 17 78896571 78896571 single base substitution C T synonymous_variant L856L 2568C>T COCA-CN 17 78899017 78899017 single base substitution G A downstream_gene_variant COCA-CN 17 78899017 78899017 single base substitution G A intron_variant COCA-CN 17 78904011 78904011 single base substitution G C intron_variant COCA-CN 17 78904133 78904133 single base substitution T C intron_variant COCA-CN 17 78904284 78904284 single base substitution G C intron_variant COCA-CN 17 78919285 78919285 single base substitution A G intron_variant COCA-CN 17 78919285 78919285 single base substitution A G upstream_gene_variant COCA-CN 17 78919324 78919324 single base substitution G A intron_variant COCA-CN 17 78919324 78919324 single base substitution G A upstream_gene_variant COCA-CN 17 78919473 78919473 single base substitution C T exon_variant COCA-CN 17 78919473 78919473 single base substitution C T missense_variant T1011M 3032C>T COCA-CN 17 78919473 78919473 single base substitution C T missense_variant T853M 2558C>T COCA-CN 17 78919473 78919473 single base substitution C T upstream_gene_variant COCA-CN 17 78936226 78936226 single base substitution C T downstream_gene_variant COCA-CN 17 78936226 78936226 single base substitution C T intron_variant COCA-CN 17 78937637 78937637 single base substitution T C downstream_gene_variant COCA-CN 17 78937637 78937637 single base substitution T C intron_variant COCA-CN 17 78938010 78938010 single base substitution G C downstream_gene_variant COCA-CN 17 78938010 78938010 single base substitution G C intron_variant COCA-CN 17 78939927 78939927 single base substitution G C 3_prime_UTR_variant COCA-CN 17 78939927 78939927 single base substitution G C downstream_gene_variant COCA-CN 17 78939927 78939927 single base substitution G C exon_variant EOPC-DE 17 78558542 78558542 single base substitution C T intron_variant EOPC-DE 17 78564027 78564027 single base substitution A G intron_variant EOPC-DE 17 78584036 78584036 single base substitution T C intron_variant EOPC-DE 17 78584446 78584446 single base substitution C G intron_variant EOPC-DE 17 78606337 78606337 single base substitution A G intron_variant EOPC-DE 17 78626132 78626132 single base substitution G A intron_variant EOPC-DE 17 78646387 78646387 single base substitution G A intron_variant EOPC-DE 17 78665297 78665297 single base substitution C T intron_variant EOPC-DE 17 78673653 78673653 single base substitution A G intron_variant EOPC-DE 17 78701189 78701189 single base substitution T C intron_variant EOPC-DE 17 78723360 78723360 single base substitution T C intron_variant EOPC-DE 17 78751455 78751455 single base substitution T C intron_variant EOPC-DE 17 78765043 78765043 single base substitution C T intron_variant EOPC-DE 17 78785787 78785787 single base substitution T C intron_variant EOPC-DE 17 78799170 78799170 single base substitution C T downstream_gene_variant EOPC-DE 17 78799170 78799170 single base substitution C T intron_variant EOPC-DE 17 78801497 78801497 single base substitution C G downstream_gene_variant EOPC-DE 17 78801497 78801497 single base substitution C G intron_variant EOPC-DE 17 78842376 78842376 single base substitution T C intron_variant EOPC-DE 17 78849509 78849509 single base substitution C T intron_variant EOPC-DE 17 78892242 78892242 single base substitution C G intron_variant EOPC-DE 17 78892242 78892242 single base substitution C G upstream_gene_variant EOPC-DE 17 78892245 78892245 single base substitution A G intron_variant EOPC-DE 17 78892245 78892245 single base substitution A G upstream_gene_variant EOPC-DE 17 78892337 78892337 single base substitution T C intron_variant EOPC-DE 17 78892337 78892337 single base substitution T C upstream_gene_variant EOPC-DE 17 78902552 78902552 single base substitution T G downstream_gene_variant EOPC-DE 17 78902552 78902552 single base substitution T G intron_variant EOPC-DE 17 78931157 78931157 single base substitution A G intron_variant EOPC-DE 17 78934498 78934498 single base substitution A G intron_variant EOPC-DE 17 78937637 78937637 single base substitution T C downstream_gene_variant EOPC-DE 17 78937637 78937637 single base substitution T C intron_variant ESAD-UK 17 78514328 78514328 single base substitution G A upstream_gene_variant ESAD-UK 17 78516285 78516285 single base substitution C T upstream_gene_variant ESAD-UK 17 78517257 78517257 single base substitution G A upstream_gene_variant ESAD-UK 17 78518296 78518296 insertion of <=200bp - T upstream_gene_variant ESAD-UK 17 78518634 78518634 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 17 78518634 78518634 single base substitution C G exon_variant ESAD-UK 17 78518634 78518634 single base substitution C G upstream_gene_variant ESAD-UK 17 78518886 78518886 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 17 78518886 78518886 single base substitution G A exon_variant ESAD-UK 17 78518886 78518886 single base substitution G A upstream_gene_variant ESAD-UK 17 78519048 78519048 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 17 78519048 78519048 single base substitution C A exon_variant ESAD-UK 17 78519048 78519048 single base substitution C A upstream_gene_variant ESAD-UK 17 78519103 78519103 single base substitution C G 5_prime_UTR_variant ESAD-UK 17 78519103 78519103 single base substitution C G exon_variant ESAD-UK 17 78519103 78519103 single base substitution C G upstream_gene_variant ESAD-UK 17 78520933 78520933 single base substitution C T intron_variant ESAD-UK 17 78526175 78526175 single base substitution G A intron_variant ESAD-UK 17 78530145 78530145 single base substitution C G intron_variant ESAD-UK 17 78531000 78531000 single base substitution T C intron_variant ESAD-UK 17 78531125 78531125 single base substitution G T intron_variant ESAD-UK 17 78531879 78531879 single base substitution C T intron_variant ESAD-UK 17 78536499 78536499 single base substitution G A intron_variant ESAD-UK 17 78537525 78537525 single base substitution G A intron_variant ESAD-UK 17 78538083 78538083 single base substitution C A intron_variant ESAD-UK 17 78538248 78538248 single base substitution G A intron_variant ESAD-UK 17 78539161 78539161 single base substitution A G intron_variant ESAD-UK 17 78543938 78543938 single base substitution T C intron_variant ESAD-UK 17 78548758 78548758 single base substitution C T intron_variant ESAD-UK 17 78548813 78548813 single base substitution G A intron_variant ESAD-UK 17 78550906 78550906 single base substitution G T intron_variant ESAD-UK 17 78551168 78551168 single base substitution G A intron_variant ESAD-UK 17 78552016 78552016 insertion of <=200bp - G intron_variant ESAD-UK 17 78554184 78554184 single base substitution C T intron_variant ESAD-UK 17 78555298 78555298 single base substitution A G intron_variant ESAD-UK 17 78558147 78558147 single base substitution A T intron_variant ESAD-UK 17 78558883 78558883 single base substitution G A intron_variant ESAD-UK 17 78560254 78560254 single base substitution C A intron_variant ESAD-UK 17 78561215 78561215 single base substitution G A intron_variant ESAD-UK 17 78563151 78563151 single base substitution A T intron_variant ESAD-UK 17 78564392 78564392 single base substitution G A intron_variant ESAD-UK 17 78564395 78564395 single base substitution C T intron_variant ESAD-UK 17 78565392 78565392 single base substitution T C intron_variant ESAD-UK 17 78569264 78569264 single base substitution T C downstream_gene_variant ESAD-UK 17 78569264 78569264 single base substitution T C intron_variant ESAD-UK 17 78574297 78574297 single base substitution C G intron_variant ESAD-UK 17 78576479 78576479 single base substitution C T intron_variant ESAD-UK 17 78578576 78578576 single base substitution G A intron_variant ESAD-UK 17 78578729 78578729 single base substitution C T intron_variant ESAD-UK 17 78583989 78583989 single base substitution C G intron_variant ESAD-UK 17 78584388 78584388 single base substitution C T intron_variant ESAD-UK 17 78585090 78585090 single base substitution C T intron_variant ESAD-UK 17 78585422 78585422 single base substitution C G intron_variant ESAD-UK 17 78585570 78585570 deletion of <=200bp A - intron_variant ESAD-UK 17 78589647 78589647 single base substitution G A intron_variant ESAD-UK 17 78590744 78590744 single base substitution G A intron_variant ESAD-UK 17 78591427 78591427 single base substitution T G intron_variant ESAD-UK 17 78592367 78592367 single base substitution C T intron_variant ESAD-UK 17 78593034 78593034 single base substitution G T intron_variant ESAD-UK 17 78594036 78594036 single base substitution G A intron_variant ESAD-UK 17 78595076 78595076 single base substitution G A intron_variant ESAD-UK 17 78595232 78595232 single base substitution A G intron_variant ESAD-UK 17 78596663 78596663 single base substitution G T intron_variant ESAD-UK 17 78597405 78597405 single base substitution G A intron_variant ESAD-UK 17 78597621 78597621 single base substitution C T intron_variant ESAD-UK 17 78597626 78597626 single base substitution G A intron_variant ESAD-UK 17 78598424 78598424 single base substitution C G intron_variant ESAD-UK 17 78603199 78603199 single base substitution C G intron_variant ESAD-UK 17 78603247 78603247 single base substitution C T intron_variant ESAD-UK 17 78603269 78603269 single base substitution C G intron_variant ESAD-UK 17 78608398 78608398 insertion of <=200bp - GC intron_variant ESAD-UK 17 78608520 78608521 deletion of <=200bp TG - intron_variant ESAD-UK 17 78608705 78608705 single base substitution G A intron_variant ESAD-UK 17 78609925 78609925 single base substitution G A intron_variant ESAD-UK 17 78612500 78612500 single base substitution G A intron_variant ESAD-UK 17 78614355 78614355 single base substitution C A intron_variant ESAD-UK 17 78614805 78614805 single base substitution C T intron_variant ESAD-UK 17 78617739 78617739 single base substitution G A intron_variant ESAD-UK 17 78618541 78618541 single base substitution C T intron_variant ESAD-UK 17 78620035 78620035 single base substitution C T intron_variant ESAD-UK 17 78620112 78620112 single base substitution G A intron_variant ESAD-UK 17 78623159 78623159 single base substitution G A intron_variant ESAD-UK 17 78626803 78626803 single base substitution T C intron_variant ESAD-UK 17 78627350 78627350 single base substitution G A intron_variant ESAD-UK 17 78632459 78632459 single base substitution A G intron_variant ESAD-UK 17 78633677 78633677 single base substitution G A intron_variant ESAD-UK 17 78635293 78635293 single base substitution G A intron_variant ESAD-UK 17 78641746 78641746 single base substitution C G intron_variant ESAD-UK 17 78642972 78642972 single base substitution G A intron_variant ESAD-UK 17 78646446 78646446 single base substitution C T intron_variant ESAD-UK 17 78646786 78646786 single base substitution G A intron_variant ESAD-UK 17 78646830 78646830 single base substitution G A intron_variant ESAD-UK 17 78646883 78646883 single base substitution C T intron_variant ESAD-UK 17 78649296 78649296 single base substitution G A intron_variant ESAD-UK 17 78651287 78651287 single base substitution T A intron_variant ESAD-UK 17 78651391 78651401 deletion of <=200bp GACTGCAGCCT - intron_variant ESAD-UK 17 78652820 78652820 single base substitution G A intron_variant ESAD-UK 17 78655803 78655803 single base substitution T C intron_variant ESAD-UK 17 78655917 78655917 single base substitution C T intron_variant ESAD-UK 17 78656973 78656973 single base substitution C T intron_variant ESAD-UK 17 78658024 78658024 single base substitution C T intron_variant ESAD-UK 17 78661662 78661662 single base substitution C T intron_variant ESAD-UK 17 78663062 78663062 single base substitution C A intron_variant ESAD-UK 17 78663241 78663241 single base substitution G A intron_variant ESAD-UK 17 78666003 78666003 single base substitution C T intron_variant ESAD-UK 17 78667259 78667259 single base substitution C G intron_variant ESAD-UK 17 78669890 78669890 single base substitution G A intron_variant ESAD-UK 17 78670635 78670635 single base substitution G A intron_variant ESAD-UK 17 78671282 78671282 single base substitution C A intron_variant ESAD-UK 17 78671671 78671671 single base substitution G T intron_variant ESAD-UK 17 78671869 78671869 single base substitution G A intron_variant ESAD-UK 17 78676605 78676605 single base substitution G A intron_variant ESAD-UK 17 78680199 78680199 single base substitution T C intron_variant ESAD-UK 17 78680199 78680199 single base substitution T C upstream_gene_variant ESAD-UK 17 78681566 78681566 single base substitution G T intron_variant ESAD-UK 17 78681566 78681566 single base substitution G T upstream_gene_variant ESAD-UK 17 78682321 78682321 single base substitution C T intron_variant ESAD-UK 17 78682321 78682321 single base substitution C T upstream_gene_variant ESAD-UK 17 78684116 78684116 single base substitution C T intron_variant ESAD-UK 17 78685344 78685344 single base substitution A C intron_variant ESAD-UK 17 78685510 78685510 single base substitution C A intron_variant ESAD-UK 17 78688947 78688947 single base substitution G A intron_variant ESAD-UK 17 78691162 78691162 single base substitution A G intron_variant ESAD-UK 17 78693829 78693829 single base substitution C T intron_variant ESAD-UK 17 78693873 78693873 single base substitution G A intron_variant ESAD-UK 17 78694952 78694952 deletion of <=200bp G - intron_variant ESAD-UK 17 78697316 78697316 single base substitution A G intron_variant ESAD-UK 17 78701201 78701201 single base substitution C T intron_variant ESAD-UK 17 78702631 78702631 single base substitution C G intron_variant ESAD-UK 17 78703774 78703774 single base substitution G C intron_variant ESAD-UK 17 78704214 78704214 single base substitution T C intron_variant ESAD-UK 17 78705691 78705691 single base substitution A G intron_variant ESAD-UK 17 78706927 78706927 single base substitution G A intron_variant ESAD-UK 17 78708612 78708612 insertion of <=200bp - A intron_variant ESAD-UK 17 78710033 78710033 single base substitution C T intron_variant ESAD-UK 17 78713459 78713459 single base substitution C T intron_variant ESAD-UK 17 78713459 78713459 single base substitution C T upstream_gene_variant ESAD-UK 17 78714577 78714577 single base substitution T A intron_variant ESAD-UK 17 78714577 78714577 single base substitution T A upstream_gene_variant ESAD-UK 17 78715174 78715174 single base substitution G T intron_variant ESAD-UK 17 78715174 78715174 single base substitution G T upstream_gene_variant ESAD-UK 17 78716369 78716369 single base substitution C G intron_variant ESAD-UK 17 78716369 78716369 single base substitution C G upstream_gene_variant ESAD-UK 17 78717381 78717381 single base substitution A T intron_variant ESAD-UK 17 78719106 78719106 single base substitution C T intron_variant ESAD-UK 17 78719274 78719274 single base substitution A G intron_variant ESAD-UK 17 78719768 78719768 single base substitution C A intron_variant ESAD-UK 17 78720318 78720318 single base substitution C A intron_variant ESAD-UK 17 78723929 78723929 single base substitution G A intron_variant ESAD-UK 17 78727616 78727616 single base substitution G A intron_variant ESAD-UK 17 78731113 78731113 single base substitution C G downstream_gene_variant ESAD-UK 17 78731113 78731113 single base substitution C G intron_variant ESAD-UK 17 78733398 78733398 single base substitution G A intron_variant ESAD-UK 17 78734790 78734790 deletion of <=200bp T - intron_variant ESAD-UK 17 78737335 78737335 single base substitution A C intron_variant ESAD-UK 17 78737364 78737364 single base substitution G C intron_variant ESAD-UK 17 78739108 78739108 single base substitution G C intron_variant ESAD-UK 17 78740333 78740333 single base substitution C T intron_variant ESAD-UK 17 78742821 78742821 single base substitution C T intron_variant ESAD-UK 17 78743825 78743825 single base substitution A G intron_variant ESAD-UK 17 78744307 78744307 single base substitution G A intron_variant ESAD-UK 17 78744406 78744406 single base substitution G A intron_variant ESAD-UK 17 78744676 78744676 single base substitution G T intron_variant ESAD-UK 17 78745123 78745123 single base substitution C G intron_variant ESAD-UK 17 78745223 78745223 single base substitution G A intron_variant ESAD-UK 17 78747448 78747448 single base substitution C T intron_variant ESAD-UK 17 78747722 78747722 single base substitution C T intron_variant ESAD-UK 17 78748291 78748291 single base substitution C T intron_variant ESAD-UK 17 78749519 78749519 single base substitution A C intron_variant ESAD-UK 17 78752780 78752780 single base substitution A G intron_variant ESAD-UK 17 78753758 78753758 single base substitution G A intron_variant ESAD-UK 17 78755639 78755639 single base substitution A G intron_variant ESAD-UK 17 78759480 78759480 deletion of <=200bp C - intron_variant ESAD-UK 17 78760817 78760817 single base substitution G C intron_variant ESAD-UK 17 78764078 78764078 single base substitution A T intron_variant ESAD-UK 17 78764840 78764840 single base substitution G A intron_variant ESAD-UK 17 78765151 78765151 single base substitution C T intron_variant ESAD-UK 17 78765403 78765403 single base substitution A C intron_variant ESAD-UK 17 78765708 78765708 insertion of <=200bp - C intron_variant ESAD-UK 17 78769173 78769173 single base substitution C T intron_variant ESAD-UK 17 78771909 78771909 single base substitution G C intron_variant ESAD-UK 17 78772137 78772137 single base substitution C T intron_variant ESAD-UK 17 78774682 78774682 single base substitution T A intron_variant ESAD-UK 17 78775719 78775719 single base substitution G A intron_variant ESAD-UK 17 78775790 78775790 single base substitution C T intron_variant ESAD-UK 17 78776034 78776034 single base substitution G C intron_variant ESAD-UK 17 78776591 78776591 single base substitution T C intron_variant ESAD-UK 17 78778227 78778227 single base substitution C G intron_variant ESAD-UK 17 78778240 78778240 single base substitution G A intron_variant ESAD-UK 17 78781212 78781212 single base substitution C G intron_variant ESAD-UK 17 78782990 78782990 single base substitution T G intron_variant ESAD-UK 17 78784678 78784678 single base substitution T A intron_variant ESAD-UK 17 78784789 78784789 single base substitution A C intron_variant ESAD-UK 17 78787724 78787724 single base substitution A C intron_variant ESAD-UK 17 78788318 78788318 single base substitution C T intron_variant ESAD-UK 17 78788434 78788434 single base substitution C T intron_variant ESAD-UK 17 78788736 78788736 single base substitution G A intron_variant ESAD-UK 17 78789536 78789536 single base substitution G A intron_variant ESAD-UK 17 78789920 78789920 deletion of <=200bp A - intron_variant ESAD-UK 17 78791209 78791209 single base substitution G A intron_variant ESAD-UK 17 78792026 78792026 single base substitution G A intron_variant ESAD-UK 17 78796167 78796167 single base substitution G T intron_variant ESAD-UK 17 78803125 78803125 single base substitution C T intron_variant ESAD-UK 17 78809701 78809701 single base substitution G A intron_variant ESAD-UK 17 78810262 78810262 single base substitution G A intron_variant ESAD-UK 17 78811830 78811830 single base substitution C T intron_variant ESAD-UK 17 78812097 78812097 single base substitution G T intron_variant ESAD-UK 17 78812941 78812941 single base substitution G T intron_variant ESAD-UK 17 78818324 78818324 single base substitution C T intron_variant ESAD-UK 17 78822018 78822018 single base substitution G A intron_variant ESAD-UK 17 78823331 78823331 deletion of <=200bp T - intron_variant ESAD-UK 17 78832297 78832297 single base substitution T G downstream_gene_variant ESAD-UK 17 78832297 78832297 single base substitution T G intron_variant ESAD-UK 17 78832469 78832469 single base substitution C T downstream_gene_variant ESAD-UK 17 78832469 78832469 single base substitution C T intron_variant ESAD-UK 17 78833903 78833903 single base substitution T G downstream_gene_variant ESAD-UK 17 78833903 78833903 single base substitution T G intron_variant ESAD-UK 17 78833929 78833929 single base substitution G T downstream_gene_variant ESAD-UK 17 78833929 78833929 single base substitution G T intron_variant ESAD-UK 17 78836395 78836395 single base substitution T C downstream_gene_variant ESAD-UK 17 78836395 78836395 single base substitution T C intron_variant ESAD-UK 17 78836513 78836513 single base substitution C T downstream_gene_variant ESAD-UK 17 78836513 78836513 single base substitution C T intron_variant ESAD-UK 17 78836736 78836736 single base substitution A G downstream_gene_variant ESAD-UK 17 78836736 78836736 single base substitution A G intron_variant ESAD-UK 17 78838042 78838042 single base substitution G A intron_variant ESAD-UK 17 78838377 78838377 single base substitution A T intron_variant ESAD-UK 17 78839146 78839146 single base substitution G A intron_variant ESAD-UK 17 78842791 78842791 single base substitution C T intron_variant ESAD-UK 17 78846799 78846799 single base substitution C A intron_variant ESAD-UK 17 78847024 78847024 single base substitution T G intron_variant ESAD-UK 17 78848181 78848181 single base substitution G C intron_variant ESAD-UK 17 78855005 78855005 single base substitution A G intron_variant ESAD-UK 17 78857145 78857145 single base substitution G A intron_variant ESAD-UK 17 78859285 78859285 insertion of <=200bp - C intron_variant ESAD-UK 17 78863732 78863732 single base substitution C T intron_variant ESAD-UK 17 78863971 78863971 single base substitution G A intron_variant ESAD-UK 17 78864699 78864699 single base substitution C T intron_variant ESAD-UK 17 78865600 78865600 single base substitution G A exon_variant ESAD-UK 17 78865600 78865600 single base substitution G A synonymous_variant E530E 1590G>A ESAD-UK 17 78865600 78865600 single base substitution G A synonymous_variant E688E 2064G>A ESAD-UK 17 78867097 78867097 single base substitution G A intron_variant ESAD-UK 17 78868271 78868271 single base substitution C T intron_variant ESAD-UK 17 78868499 78868499 deletion of <=200bp T - intron_variant ESAD-UK 17 78870122 78870122 single base substitution G A intron_variant ESAD-UK 17 78872180 78872180 single base substitution G A intron_variant ESAD-UK 17 78874194 78874194 single base substitution C G intron_variant ESAD-UK 17 78874974 78874974 single base substitution C A intron_variant ESAD-UK 17 78874975 78874975 single base substitution G A intron_variant ESAD-UK 17 78875298 78875298 single base substitution G T intron_variant ESAD-UK 17 78877233 78877233 single base substitution C T intron_variant ESAD-UK 17 78880229 78880229 single base substitution G A intron_variant ESAD-UK 17 78880897 78880897 single base substitution G A intron_variant ESAD-UK 17 78882382 78882382 single base substitution A G intron_variant ESAD-UK 17 78883873 78883873 single base substitution G A downstream_gene_variant ESAD-UK 17 78883873 78883873 single base substitution G A intron_variant ESAD-UK 17 78888029 78888029 single base substitution G A downstream_gene_variant ESAD-UK 17 78888029 78888029 single base substitution G A intron_variant ESAD-UK 17 78891685 78891685 single base substitution C T intron_variant ESAD-UK 17 78891685 78891685 single base substitution C T upstream_gene_variant ESAD-UK 17 78893975 78893975 single base substitution G A intron_variant ESAD-UK 17 78893975 78893975 single base substitution G A upstream_gene_variant ESAD-UK 17 78894165 78894165 deletion of <=200bp G - intron_variant ESAD-UK 17 78894165 78894165 deletion of <=200bp G - upstream_gene_variant ESAD-UK 17 78894382 78894382 single base substitution C T intron_variant ESAD-UK 17 78894382 78894382 single base substitution C T upstream_gene_variant ESAD-UK 17 78896368 78896368 single base substitution G A intron_variant ESAD-UK 17 78896368 78896368 single base substitution G A upstream_gene_variant ESAD-UK 17 78899285 78899285 single base substitution G A downstream_gene_variant ESAD-UK 17 78899285 78899285 single base substitution G A splice_region_variant ESAD-UK 17 78899319 78899319 single base substitution G A downstream_gene_variant ESAD-UK 17 78899319 78899319 single base substitution G A intron_variant ESAD-UK 17 78899952 78899952 single base substitution G A downstream_gene_variant ESAD-UK 17 78899952 78899952 single base substitution G A intron_variant ESAD-UK 17 78900821 78900821 single base substitution C T downstream_gene_variant ESAD-UK 17 78900821 78900821 single base substitution C T intron_variant ESAD-UK 17 78901265 78901265 single base substitution A T downstream_gene_variant ESAD-UK 17 78901265 78901265 single base substitution A T intron_variant ESAD-UK 17 78901690 78901690 single base substitution G T downstream_gene_variant ESAD-UK 17 78901690 78901690 single base substitution G T intron_variant ESAD-UK 17 78904664 78904664 single base substitution G T intron_variant ESAD-UK 17 78905274 78905274 single base substitution G A intron_variant ESAD-UK 17 78906086 78906086 single base substitution A G intron_variant ESAD-UK 17 78909584 78909584 single base substitution A T intron_variant ESAD-UK 17 78909611 78909611 single base substitution A G intron_variant ESAD-UK 17 78909665 78909665 single base substitution A C intron_variant ESAD-UK 17 78910113 78910113 single base substitution C T intron_variant ESAD-UK 17 78910560 78910560 single base substitution G T intron_variant ESAD-UK 17 78912214 78912214 single base substitution G A intron_variant ESAD-UK 17 78912422 78912422 single base substitution G A intron_variant ESAD-UK 17 78913583 78913583 single base substitution G A intron_variant ESAD-UK 17 78914636 78914636 single base substitution G A intron_variant ESAD-UK 17 78914636 78914636 single base substitution G A upstream_gene_variant ESAD-UK 17 78915872 78915872 single base substitution G A intron_variant ESAD-UK 17 78915872 78915872 single base substitution G A upstream_gene_variant ESAD-UK 17 78916285 78916285 single base substitution C T intron_variant ESAD-UK 17 78916285 78916285 single base substitution C T upstream_gene_variant ESAD-UK 17 78918038 78918038 single base substitution T G intron_variant ESAD-UK 17 78918038 78918038 single base substitution T G upstream_gene_variant ESAD-UK 17 78922033 78922033 single base substitution G A intron_variant ESAD-UK 17 78922033 78922033 single base substitution G A upstream_gene_variant ESAD-UK 17 78922112 78922112 single base substitution G T intron_variant ESAD-UK 17 78922112 78922112 single base substitution G T upstream_gene_variant ESAD-UK 17 78922123 78922123 single base substitution G A intron_variant ESAD-UK 17 78922123 78922123 single base substitution G A upstream_gene_variant ESAD-UK 17 78922589 78922589 single base substitution G A intron_variant ESAD-UK 17 78923676 78923676 single base substitution G A downstream_gene_variant ESAD-UK 17 78923676 78923676 single base substitution G A intron_variant ESAD-UK 17 78924930 78924930 single base substitution G A downstream_gene_variant ESAD-UK 17 78924930 78924930 single base substitution G A intron_variant ESAD-UK 17 78928464 78928464 single base substitution G A intron_variant ESAD-UK 17 78928464 78928464 single base substitution G T intron_variant ESAD-UK 17 78928768 78928768 single base substitution C T intron_variant ESAD-UK 17 78929900 78929900 single base substitution C T intron_variant ESAD-UK 17 78930260 78930260 single base substitution G T intron_variant ESAD-UK 17 78932273 78932273 single base substitution C T intron_variant ESAD-UK 17 78932448 78932448 single base substitution C T intron_variant ESAD-UK 17 78935168 78935168 single base substitution C T intron_variant ESAD-UK 17 78935253 78935253 single base substitution G A downstream_gene_variant ESAD-UK 17 78935253 78935253 single base substitution G A exon_variant ESAD-UK 17 78935253 78935253 single base substitution G A missense_variant R1064H 3191G>A ESAD-UK 17 78935253 78935253 single base substitution G A missense_variant R1222H 3665G>A ESAD-UK 17 78936194 78936194 single base substitution C T downstream_gene_variant ESAD-UK 17 78936194 78936194 single base substitution C T intron_variant ESAD-UK 17 78938672 78938672 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 78938672 78938672 single base substitution C T downstream_gene_variant ESAD-UK 17 78938672 78938672 single base substitution C T exon_variant ESAD-UK 17 78942940 78942940 single base substitution G A downstream_gene_variant ESAD-UK 17 78943403 78943403 single base substitution G A downstream_gene_variant ESAD-UK 17 78943951 78943951 single base substitution G T downstream_gene_variant ESCA-CN 17 78727789 78727789 single base substitution C A intron_variant ESCA-CN 17 78727790 78727790 single base substitution C A intron_variant ESCA-CN 17 78857281 78857281 single base substitution G A exon_variant ESCA-CN 17 78857281 78857281 single base substitution G A intron_variant ESCA-CN 17 78857281 78857281 single base substitution G A synonymous_variant G549G 1647G>A GBM-US 17 78727945 78727945 single base substitution A C 3_prime_UTR_variant GBM-US 17 78727945 78727945 single base substitution A C downstream_gene_variant GBM-US 17 78727945 78727945 single base substitution A C exon_variant GBM-US 17 78727945 78727945 single base substitution A C missense_variant T264P 790A>C GBM-US 17 78727945 78727945 single base substitution A C missense_variant T79P 235A>C GBM-US 17 78797000 78797000 single base substitution G A 3_prime_UTR_variant GBM-US 17 78797000 78797000 single base substitution G A exon_variant GBM-US 17 78797000 78797000 single base substitution G A synonymous_variant P186P 558G>A GBM-US 17 78797000 78797000 single base substitution G A synonymous_variant P371P 1113G>A GBM-US 17 78938060 78938060 single base substitution A G downstream_gene_variant GBM-US 17 78938060 78938060 single base substitution A G splice_acceptor_variant KIRC-US 17 78727975 78727975 single base substitution G A 3_prime_UTR_variant KIRC-US 17 78727975 78727975 single base substitution G A downstream_gene_variant KIRC-US 17 78727975 78727975 single base substitution G A exon_variant KIRC-US 17 78727975 78727975 single base substitution G A missense_variant A274T 820G>A KIRC-US 17 78727975 78727975 single base substitution G A missense_variant A89T 265G>A KIRC-US 17 78935234 78935234 single base substitution A C exon_variant KIRC-US 17 78935234 78935234 single base substitution A C missense_variant K1058Q 3172A>C KIRC-US 17 78935234 78935234 single base substitution A C missense_variant K1216Q 3646A>C KIRP-US 17 78811724 78811724 single base substitution A C missense_variant Q195P 584A>C KIRP-US 17 78811724 78811724 single base substitution A C missense_variant Q380P 1139A>C KIRP-US 17 78811724 78811724 single base substitution A C splice_region_variant LAML-KR 17 78555335 78555335 single base substitution C T intron_variant LAML-KR 17 78555522 78555522 single base substitution T C intron_variant LAML-KR 17 78564411 78564411 single base substitution G A intron_variant LAML-KR 17 78565055 78565055 single base substitution T C intron_variant LAML-KR 17 78602440 78602440 single base substitution A T intron_variant LAML-KR 17 78603142 78603142 single base substitution C T intron_variant LAML-KR 17 78603157 78603157 single base substitution T C intron_variant LAML-KR 17 78603169 78603169 single base substitution G A intron_variant LAML-KR 17 78603175 78603175 single base substitution T C intron_variant LAML-KR 17 78603209 78603209 single base substitution C T intron_variant LAML-KR 17 78603210 78603210 single base substitution A G intron_variant LAML-KR 17 78603323 78603323 single base substitution T C intron_variant LAML-KR 17 78673141 78673141 single base substitution A G intron_variant LAML-KR 17 78673174 78673174 single base substitution A G intron_variant LAML-KR 17 78673426 78673426 single base substitution G A intron_variant LAML-KR 17 78701033 78701033 single base substitution C T intron_variant LAML-KR 17 78701384 78701384 single base substitution C T intron_variant LAML-KR 17 78721834 78721834 single base substitution A G intron_variant LAML-KR 17 78722338 78722338 single base substitution G T intron_variant LAML-KR 17 78722364 78722364 single base substitution G A intron_variant LAML-KR 17 78722761 78722761 single base substitution G A intron_variant LAML-KR 17 78722767 78722767 single base substitution C T intron_variant LAML-KR 17 78722816 78722816 single base substitution G A intron_variant LAML-KR 17 78798824 78798824 single base substitution A C downstream_gene_variant LAML-KR 17 78798824 78798824 single base substitution A C intron_variant LAML-KR 17 78814462 78814462 single base substitution A G intron_variant LAML-KR 17 78829484 78829484 single base substitution T G intron_variant LAML-KR 17 78849503 78849503 single base substitution G A intron_variant LAML-KR 17 78850552 78850552 single base substitution C T intron_variant LAML-KR 17 78850575 78850575 single base substitution C T intron_variant LAML-KR 17 78865491 78865491 single base substitution C G intron_variant LAML-KR 17 78865630 78865630 single base substitution A G exon_variant LAML-KR 17 78865630 78865630 single base substitution A G synonymous_variant A540A 1620A>G LAML-KR 17 78865630 78865630 single base substitution A G synonymous_variant A698A 2094A>G LAML-KR 17 78888966 78888966 single base substitution A G intron_variant LAML-KR 17 78889063 78889063 single base substitution G A intron_variant LAML-KR 17 78889174 78889174 single base substitution G A intron_variant LAML-KR 17 78889307 78889307 single base substitution G A intron_variant LAML-KR 17 78889705 78889705 single base substitution A C intron_variant LAML-KR 17 78904146 78904146 single base substitution A T intron_variant LAML-KR 17 78904155 78904155 single base substitution C T intron_variant LAML-KR 17 78907760 78907760 single base substitution G C intron_variant LAML-KR 17 78908147 78908147 single base substitution A G intron_variant LAML-KR 17 78908164 78908164 single base substitution T C intron_variant LAML-KR 17 78908177 78908177 single base substitution G C intron_variant LAML-KR 17 78930952 78930952 single base substitution T C intron_variant LAML-KR 17 78931103 78931103 single base substitution T C intron_variant LAML-KR 17 78937231 78937231 single base substitution G T downstream_gene_variant LAML-KR 17 78937231 78937231 single base substitution G T intron_variant LAML-KR 17 78937272 78937272 single base substitution G C downstream_gene_variant LAML-KR 17 78937272 78937272 single base substitution G C intron_variant LAML-KR 17 78938239 78938239 single base substitution G C 3_prime_UTR_variant LAML-KR 17 78938239 78938239 single base substitution G C downstream_gene_variant LAML-KR 17 78938239 78938239 single base substitution G C exon_variant LICA-CN 17 78599538 78599538 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant LICA-CN 17 78599538 78599538 single base substitution G T exon_variant LICA-CN 17 78599538 78599538 single base substitution G T synonymous_variant V70V 210G>T LICA-CN 17 78796068 78796068 single base substitution A G 3_prime_UTR_variant LICA-CN 17 78796068 78796068 single base substitution A G exon_variant LICA-CN 17 78796068 78796068 single base substitution A G missense_variant T135A 403A>G LICA-CN 17 78796068 78796068 single base substitution A G missense_variant T320A 958A>G LICA-CN 17 78796070 78796070 single base substitution A T 3_prime_UTR_variant LICA-CN 17 78796070 78796070 single base substitution A T exon_variant LICA-CN 17 78796070 78796070 single base substitution A T synonymous_variant T135T 405A>T LICA-CN 17 78796070 78796070 single base substitution A T synonymous_variant T320T 960A>T LICA-FR 17 78530584 78530584 insertion of <=200bp - A intron_variant LICA-FR 17 78532722 78532722 single base substitution G A intron_variant LICA-FR 17 78572683 78572683 insertion of <=200bp - TCTATCTA intron_variant LICA-FR 17 78582741 78582741 single base substitution A G intron_variant LICA-FR 17 78590099 78590101 deletion of <=200bp TTT - intron_variant LICA-FR 17 78607773 78607773 single base substitution G A intron_variant LICA-FR 17 78612212 78612212 insertion of <=200bp - TT intron_variant LICA-FR 17 78621473 78621473 single base substitution G A intron_variant LICA-FR 17 78633750 78633750 single base substitution A C intron_variant LICA-FR 17 78654766 78654766 single base substitution G A intron_variant LICA-FR 17 78659988 78659989 deletion of <=200bp TT - intron_variant LICA-FR 17 78673390 78673390 single base substitution A G intron_variant LICA-FR 17 78673516 78673516 single base substitution G A intron_variant LICA-FR 17 78677095 78677095 single base substitution A G intron_variant LICA-FR 17 78710772 78710772 single base substitution A G intron_variant LICA-FR 17 78717566 78717566 single base substitution C G intron_variant LICA-FR 17 78717567 78717567 single base substitution T C intron_variant LICA-FR 17 78718293 78718293 single base substitution C T intron_variant LICA-FR 17 78718336 78718336 single base substitution C T intron_variant LICA-FR 17 78734100 78734100 single base substitution C T intron_variant LICA-FR 17 78785242 78785242 single base substitution A G intron_variant LICA-FR 17 78785402 78785402 single base substitution A C intron_variant LICA-FR 17 78785716 78785716 single base substitution A G intron_variant LICA-FR 17 78798144 78798144 single base substitution A G downstream_gene_variant LICA-FR 17 78798144 78798144 single base substitution A G intron_variant LICA-FR 17 78799142 78799142 single base substitution A C downstream_gene_variant LICA-FR 17 78799142 78799142 single base substitution A C intron_variant LICA-FR 17 78819946 78819946 single base substitution T C intron_variant LICA-FR 17 78820287 78820287 single base substitution C G 3_prime_UTR_variant LICA-FR 17 78820287 78820287 single base substitution C G exon_variant LICA-FR 17 78820287 78820287 single base substitution C G missense_variant F224L 672C>G LICA-FR 17 78820287 78820287 single base substitution C G missense_variant F409L 1227C>G LICA-FR 17 78827623 78827623 single base substitution A G intron_variant LICA-FR 17 78838076 78838076 single base substitution C T intron_variant LICA-FR 17 78844328 78844328 single base substitution G T intron_variant LICA-FR 17 78877523 78877523 single base substitution G A intron_variant LICA-FR 17 78880150 78880150 single base substitution T G intron_variant LICA-FR 17 78902132 78902132 single base substitution G A downstream_gene_variant LICA-FR 17 78902132 78902132 single base substitution G A intron_variant LICA-FR 17 78908821 78908822 deletion of <=200bp AA - intron_variant LICA-FR 17 78936378 78936378 single base substitution G A downstream_gene_variant LICA-FR 17 78936378 78936378 single base substitution G A splice_donor_variant LIHC-US 17 78704429 78704429 single base substitution G A 3_prime_UTR_variant LIHC-US 17 78704429 78704429 single base substitution G A exon_variant LIHC-US 17 78704429 78704429 single base substitution G A missense_variant V193I 577G>A LIHC-US 17 78704429 78704429 single base substitution G A missense_variant V8I 22G>A LIHC-US 17 78857615 78857615 single base substitution G A exon_variant LIHC-US 17 78857615 78857615 single base substitution G A intron_variant LIHC-US 17 78857615 78857615 single base substitution G A missense_variant C562Y 1685G>A LINC-JP 17 78554925 78554925 single base substitution G T intron_variant LINC-JP 17 78576706 78576706 deletion of <=200bp A - intron_variant LINC-JP 17 78578718 78578718 deletion of <=200bp T - intron_variant LINC-JP 17 78608382 78608382 single base substitution T C intron_variant LINC-JP 17 78618108 78618108 insertion of <=200bp - T intron_variant LINC-JP 17 78622692 78622692 single base substitution G A intron_variant LINC-JP 17 78629931 78629931 single base substitution C A intron_variant LINC-JP 17 78634931 78634931 single base substitution G A intron_variant LINC-JP 17 78637058 78637058 single base substitution A G intron_variant LINC-JP 17 78644661 78644661 single base substitution T C intron_variant LINC-JP 17 78649829 78649829 single base substitution A G intron_variant LINC-JP 17 78682178 78682178 single base substitution A G intron_variant LINC-JP 17 78682178 78682178 single base substitution A G upstream_gene_variant LINC-JP 17 78684179 78684179 single base substitution C T intron_variant LINC-JP 17 78702246 78702246 single base substitution G T intron_variant LINC-JP 17 78726057 78726057 single base substitution A G intron_variant LINC-JP 17 78746253 78746253 single base substitution A G intron_variant LINC-JP 17 78757436 78757436 single base substitution C T intron_variant LINC-JP 17 78762392 78762392 single base substitution A G intron_variant LINC-JP 17 78765392 78765392 single base substitution T G intron_variant LINC-JP 17 78772440 78772440 single base substitution A G intron_variant LINC-JP 17 78784709 78784709 single base substitution A T intron_variant LINC-JP 17 78795973 78795973 insertion of <=200bp - A intron_variant LINC-JP 17 78803533 78803533 single base substitution G T intron_variant LINC-JP 17 78814462 78814462 single base substitution A G intron_variant LINC-JP 17 78814953 78814953 single base substitution G A intron_variant LINC-JP 17 78819722 78819722 single base substitution T C intron_variant LINC-JP 17 78861220 78861220 single base substitution C T intron_variant LINC-JP 17 78890443 78890443 single base substitution A G intron_variant LINC-JP 17 78904368 78904368 insertion of <=200bp - C intron_variant LINC-JP 17 78904383 78904383 deletion of <=200bp G - intron_variant LINC-JP 17 78905906 78905906 single base substitution T C intron_variant LINC-JP 17 78920888 78920888 single base substitution A G intron_variant LINC-JP 17 78920888 78920888 single base substitution A G upstream_gene_variant LINC-JP 17 78930827 78930827 single base substitution G T intron_variant LINC-JP 17 78933769 78933769 single base substitution G A intron_variant LINC-JP 17 78933870 78933870 single base substitution G A splice_region_variant LINC-JP 17 78938162 78938162 single base substitution G A 3_prime_UTR_variant LINC-JP 17 78938162 78938162 single base substitution G A downstream_gene_variant LINC-JP 17 78938162 78938162 single base substitution G A exon_variant LIRI-JP 17 78513804 78513804 single base substitution C A upstream_gene_variant LIRI-JP 17 78517377 78517377 single base substitution C T upstream_gene_variant LIRI-JP 17 78522856 78522856 single base substitution C G intron_variant LIRI-JP 17 78522930 78522930 single base substitution C G intron_variant LIRI-JP 17 78523695 78523695 single base substitution A G intron_variant LIRI-JP 17 78527656 78527656 single base substitution C T intron_variant LIRI-JP 17 78530500 78530500 single base substitution T G intron_variant LIRI-JP 17 78532320 78532320 single base substitution C G intron_variant LIRI-JP 17 78534253 78534253 single base substitution A G intron_variant LIRI-JP 17 78536163 78536163 single base substitution C T intron_variant LIRI-JP 17 78536609 78536609 single base substitution A G intron_variant LIRI-JP 17 78536888 78536888 single base substitution C T intron_variant LIRI-JP 17 78540007 78540007 single base substitution T C intron_variant LIRI-JP 17 78540094 78540094 single base substitution G A intron_variant LIRI-JP 17 78541285 78541285 single base substitution C A intron_variant LIRI-JP 17 78541516 78541516 single base substitution C T intron_variant LIRI-JP 17 78541721 78541721 single base substitution T A intron_variant LIRI-JP 17 78541945 78541945 single base substitution G C intron_variant LIRI-JP 17 78543250 78543250 single base substitution G A intron_variant LIRI-JP 17 78543489 78543489 single base substitution G A intron_variant LIRI-JP 17 78544422 78544422 single base substitution G A intron_variant LIRI-JP 17 78545404 78545404 single base substitution T C intron_variant LIRI-JP 17 78546564 78546564 single base substitution A G intron_variant LIRI-JP 17 78546618 78546618 single base substitution T G intron_variant LIRI-JP 17 78548431 78548431 single base substitution C A intron_variant LIRI-JP 17 78553133 78553133 single base substitution A G intron_variant LIRI-JP 17 78553257 78553257 single base substitution G T intron_variant LIRI-JP 17 78553656 78553656 single base substitution C G intron_variant LIRI-JP 17 78557851 78557851 single base substitution G T intron_variant LIRI-JP 17 78558725 78558725 single base substitution T G intron_variant LIRI-JP 17 78559759 78559759 single base substitution G A intron_variant LIRI-JP 17 78561090 78561090 single base substitution T C intron_variant LIRI-JP 17 78561129 78561129 single base substitution C T intron_variant LIRI-JP 17 78562522 78562522 single base substitution T C intron_variant LIRI-JP 17 78562817 78562817 single base substitution A G intron_variant LIRI-JP 17 78562929 78562929 single base substitution A G intron_variant LIRI-JP 17 78565604 78565604 single base substitution C A intron_variant LIRI-JP 17 78570146 78570146 single base substitution A T downstream_gene_variant LIRI-JP 17 78570146 78570146 single base substitution A T intron_variant LIRI-JP 17 78571737 78571737 single base substitution C T downstream_gene_variant LIRI-JP 17 78571737 78571737 single base substitution C T intron_variant LIRI-JP 17 78573368 78573368 single base substitution T A intron_variant LIRI-JP 17 78573620 78573620 single base substitution T C intron_variant LIRI-JP 17 78573719 78573719 single base substitution A T intron_variant LIRI-JP 17 78577351 78577351 single base substitution C T intron_variant LIRI-JP 17 78579742 78579758 deletion of <=200bp AGGTGTTGGTAGGTGCT - intron_variant LIRI-JP 17 78581252 78581252 single base substitution T C intron_variant LIRI-JP 17 78582673 78582673 insertion of <=200bp - G intron_variant LIRI-JP 17 78583082 78583082 single base substitution C T intron_variant LIRI-JP 17 78585464 78585464 single base substitution C T intron_variant LIRI-JP 17 78585963 78585963 single base substitution T C intron_variant LIRI-JP 17 78588235 78588235 single base substitution A G intron_variant LIRI-JP 17 78588662 78588662 single base substitution C T intron_variant LIRI-JP 17 78590719 78590719 single base substitution A G intron_variant LIRI-JP 17 78592567 78592567 single base substitution A G intron_variant LIRI-JP 17 78595357 78595357 single base substitution C G intron_variant LIRI-JP 17 78596982 78596982 single base substitution C A intron_variant LIRI-JP 17 78597738 78597738 single base substitution C T intron_variant LIRI-JP 17 78599319 78599319 single base substitution C T intron_variant LIRI-JP 17 78600488 78600488 single base substitution T G intron_variant LIRI-JP 17 78606664 78606664 single base substitution G A intron_variant LIRI-JP 17 78612529 78612529 single base substitution T A intron_variant LIRI-JP 17 78613156 78613156 single base substitution C G intron_variant LIRI-JP 17 78613223 78613223 single base substitution G T intron_variant LIRI-JP 17 78613283 78613283 single base substitution G A intron_variant LIRI-JP 17 78613721 78613721 single base substitution T C intron_variant LIRI-JP 17 78613886 78613886 single base substitution C A intron_variant LIRI-JP 17 78615577 78615577 single base substitution T A intron_variant LIRI-JP 17 78621762 78621762 single base substitution G A intron_variant LIRI-JP 17 78622524 78622524 single base substitution A G intron_variant LIRI-JP 17 78622786 78622786 single base substitution C A intron_variant LIRI-JP 17 78622797 78622797 single base substitution A G intron_variant LIRI-JP 17 78623434 78623434 single base substitution A G intron_variant LIRI-JP 17 78626341 78626341 single base substitution G T intron_variant LIRI-JP 17 78626342 78626342 single base substitution C T intron_variant LIRI-JP 17 78630967 78630967 single base substitution A G intron_variant LIRI-JP 17 78636971 78636971 single base substitution A T intron_variant LIRI-JP 17 78637782 78637782 single base substitution G T intron_variant LIRI-JP 17 78640458 78640458 single base substitution C A intron_variant LIRI-JP 17 78643683 78643683 single base substitution A G intron_variant LIRI-JP 17 78643963 78643963 single base substitution T C intron_variant LIRI-JP 17 78644927 78644927 single base substitution A G intron_variant LIRI-JP 17 78645146 78645146 single base substitution G A intron_variant LIRI-JP 17 78645293 78645293 single base substitution C T intron_variant LIRI-JP 17 78645627 78645627 single base substitution G T intron_variant LIRI-JP 17 78645792 78645792 single base substitution A G intron_variant LIRI-JP 17 78646323 78646323 single base substitution C T intron_variant LIRI-JP 17 78646686 78646686 single base substitution C T intron_variant LIRI-JP 17 78648403 78648403 single base substitution G A intron_variant LIRI-JP 17 78648551 78648551 single base substitution G A intron_variant LIRI-JP 17 78650632 78650632 single base substitution A G intron_variant LIRI-JP 17 78650976 78650976 single base substitution A G intron_variant LIRI-JP 17 78652504 78652504 single base substitution T A intron_variant LIRI-JP 17 78653972 78653972 single base substitution T A intron_variant LIRI-JP 17 78655067 78655067 single base substitution T A intron_variant LIRI-JP 17 78655668 78655668 insertion of <=200bp - ACGTG intron_variant LIRI-JP 17 78656529 78656529 single base substitution A G intron_variant LIRI-JP 17 78659614 78659630 deletion of <=200bp GTCGTAAGCGTAAGATG - intron_variant LIRI-JP 17 78663615 78663615 single base substitution A G intron_variant LIRI-JP 17 78665155 78665155 single base substitution C T intron_variant LIRI-JP 17 78665723 78665723 single base substitution C T intron_variant LIRI-JP 17 78666456 78666456 single base substitution T G intron_variant LIRI-JP 17 78669716 78669716 single base substitution G T intron_variant LIRI-JP 17 78677055 78677055 single base substitution G A intron_variant LIRI-JP 17 78677776 78677776 single base substitution G A intron_variant LIRI-JP 17 78677776 78677776 single base substitution G A upstream_gene_variant LIRI-JP 17 78679471 78679471 single base substitution A C intron_variant LIRI-JP 17 78679471 78679471 single base substitution A C upstream_gene_variant LIRI-JP 17 78680783 78680783 single base substitution A T intron_variant LIRI-JP 17 78680783 78680783 single base substitution A T upstream_gene_variant LIRI-JP 17 78681644 78681644 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 17 78681644 78681644 single base substitution C T exon_variant LIRI-JP 17 78681644 78681644 single base substitution C T missense_variant R118W 352C>T LIRI-JP 17 78681644 78681644 single base substitution C T upstream_gene_variant LIRI-JP 17 78682756 78682756 single base substitution G A exon_variant LIRI-JP 17 78682756 78682756 single base substitution G A intron_variant LIRI-JP 17 78683684 78683684 single base substitution A G intron_variant LIRI-JP 17 78686125 78686125 single base substitution A T intron_variant LIRI-JP 17 78686127 78686127 single base substitution T G intron_variant LIRI-JP 17 78686258 78686258 single base substitution A G intron_variant LIRI-JP 17 78686847 78686847 single base substitution A G intron_variant LIRI-JP 17 78688906 78688906 single base substitution A G intron_variant LIRI-JP 17 78689520 78689520 single base substitution C T intron_variant LIRI-JP 17 78692439 78692439 single base substitution T G intron_variant LIRI-JP 17 78701732 78701732 single base substitution C T intron_variant LIRI-JP 17 78702050 78702050 single base substitution A G intron_variant LIRI-JP 17 78702827 78702827 single base substitution C A intron_variant LIRI-JP 17 78702839 78702839 single base substitution G A intron_variant LIRI-JP 17 78705694 78705694 single base substitution T C intron_variant LIRI-JP 17 78712979 78712979 insertion of <=200bp - C intron_variant LIRI-JP 17 78712979 78712979 insertion of <=200bp - C upstream_gene_variant LIRI-JP 17 78713650 78713650 single base substitution A G intron_variant LIRI-JP 17 78713650 78713650 single base substitution A G upstream_gene_variant LIRI-JP 17 78714156 78714156 single base substitution A G intron_variant LIRI-JP 17 78714156 78714156 single base substitution A G upstream_gene_variant LIRI-JP 17 78719595 78719595 single base substitution G A intron_variant LIRI-JP 17 78720245 78720245 single base substitution A G intron_variant LIRI-JP 17 78721551 78721551 single base substitution A T intron_variant LIRI-JP 17 78725201 78725201 single base substitution C A intron_variant LIRI-JP 17 78728317 78728317 single base substitution A G downstream_gene_variant LIRI-JP 17 78728317 78728317 single base substitution A G intron_variant LIRI-JP 17 78728888 78728888 single base substitution G A downstream_gene_variant LIRI-JP 17 78728888 78728888 single base substitution G A intron_variant LIRI-JP 17 78729158 78729158 single base substitution T C downstream_gene_variant LIRI-JP 17 78729158 78729158 single base substitution T C intron_variant LIRI-JP 17 78730994 78730994 single base substitution C G downstream_gene_variant LIRI-JP 17 78730994 78730994 single base substitution C G intron_variant LIRI-JP 17 78732454 78732454 single base substitution G A downstream_gene_variant LIRI-JP 17 78732454 78732454 single base substitution G A intron_variant LIRI-JP 17 78735232 78735232 single base substitution A G intron_variant LIRI-JP 17 78735246 78735246 single base substitution A G intron_variant LIRI-JP 17 78739024 78739024 single base substitution G A intron_variant LIRI-JP 17 78739599 78739599 single base substitution A C intron_variant LIRI-JP 17 78740419 78740419 single base substitution A G intron_variant LIRI-JP 17 78741136 78741136 single base substitution G T intron_variant LIRI-JP 17 78742396 78742396 single base substitution G A intron_variant LIRI-JP 17 78744855 78744855 single base substitution C T intron_variant LIRI-JP 17 78745254 78745254 single base substitution T C intron_variant LIRI-JP 17 78748080 78748080 single base substitution G A intron_variant LIRI-JP 17 78755873 78755873 single base substitution G A intron_variant LIRI-JP 17 78757552 78757552 single base substitution T G intron_variant LIRI-JP 17 78757659 78757659 single base substitution T A intron_variant LIRI-JP 17 78757896 78757896 single base substitution C T intron_variant LIRI-JP 17 78759921 78759921 single base substitution G A intron_variant LIRI-JP 17 78760576 78760576 single base substitution G A intron_variant LIRI-JP 17 78767352 78767352 single base substitution C T intron_variant LIRI-JP 17 78771678 78771678 single base substitution G A intron_variant LIRI-JP 17 78776351 78776351 single base substitution G T intron_variant LIRI-JP 17 78776352 78776352 single base substitution C T intron_variant LIRI-JP 17 78776647 78776647 single base substitution A T intron_variant LIRI-JP 17 78777397 78777397 single base substitution G A intron_variant LIRI-JP 17 78777881 78777881 single base substitution C A intron_variant LIRI-JP 17 78778211 78778211 single base substitution G A intron_variant LIRI-JP 17 78779659 78779659 single base substitution A G intron_variant LIRI-JP 17 78780193 78780193 single base substitution C T intron_variant LIRI-JP 17 78780693 78780693 single base substitution A T intron_variant LIRI-JP 17 78781737 78781737 single base substitution G A intron_variant LIRI-JP 17 78786817 78786817 single base substitution C A intron_variant LIRI-JP 17 78788517 78788517 single base substitution C A intron_variant LIRI-JP 17 78791143 78791143 single base substitution A T intron_variant LIRI-JP 17 78793294 78793294 single base substitution A G intron_variant LIRI-JP 17 78795183 78795183 single base substitution A G intron_variant LIRI-JP 17 78796292 78796292 single base substitution A G intron_variant LIRI-JP 17 78798172 78798172 single base substitution G A downstream_gene_variant LIRI-JP 17 78798172 78798172 single base substitution G A intron_variant LIRI-JP 17 78808848 78808848 single base substitution G A intron_variant LIRI-JP 17 78811632 78811632 single base substitution G A intron_variant LIRI-JP 17 78812920 78812920 single base substitution C T intron_variant LIRI-JP 17 78816556 78816556 single base substitution G A intron_variant LIRI-JP 17 78818145 78818145 single base substitution A G intron_variant LIRI-JP 17 78819027 78819027 single base substitution T G intron_variant LIRI-JP 17 78820070 78820070 single base substitution G A intron_variant LIRI-JP 17 78820678 78820678 single base substitution T C intron_variant LIRI-JP 17 78822564 78822564 single base substitution C T intron_variant LIRI-JP 17 78822784 78822784 single base substitution C T intron_variant LIRI-JP 17 78828386 78828386 single base substitution A G intron_variant LIRI-JP 17 78828396 78828396 single base substitution A G intron_variant LIRI-JP 17 78831860 78831860 single base substitution C T 3_prime_UTR_variant LIRI-JP 17 78831860 78831860 single base substitution C T intron_variant LIRI-JP 17 78834738 78834738 single base substitution C T downstream_gene_variant LIRI-JP 17 78834738 78834738 single base substitution C T intron_variant LIRI-JP 17 78840140 78840140 single base substitution A G intron_variant LIRI-JP 17 78840184 78840184 single base substitution C T intron_variant LIRI-JP 17 78840823 78840823 single base substitution C T intron_variant LIRI-JP 17 78842521 78842521 single base substitution C G intron_variant LIRI-JP 17 78842733 78842733 single base substitution G A intron_variant LIRI-JP 17 78843146 78843146 single base substitution C T intron_variant LIRI-JP 17 78847769 78847769 single base substitution A G intron_variant LIRI-JP 17 78850930 78850930 single base substitution C T intron_variant LIRI-JP 17 78851092 78851092 single base substitution G A intron_variant LIRI-JP 17 78851110 78851110 single base substitution A C intron_variant LIRI-JP 17 78854176 78854176 single base substitution A G intron_variant LIRI-JP 17 78854451 78854451 single base substitution C A intron_variant LIRI-JP 17 78855208 78855208 single base substitution G T intron_variant LIRI-JP 17 78856538 78856538 single base substitution A G intron_variant LIRI-JP 17 78859530 78859530 single base substitution A G intron_variant LIRI-JP 17 78859636 78859636 single base substitution C T intron_variant LIRI-JP 17 78861703 78861703 single base substitution A G intron_variant LIRI-JP 17 78867773 78867773 single base substitution C T intron_variant LIRI-JP 17 78870730 78870730 single base substitution A G intron_variant LIRI-JP 17 78875328 78875328 single base substitution A G intron_variant LIRI-JP 17 78878299 78878299 single base substitution A T intron_variant LIRI-JP 17 78880649 78880649 single base substitution G A intron_variant LIRI-JP 17 78881091 78881091 single base substitution A T intron_variant LIRI-JP 17 78882244 78882244 single base substitution A G intron_variant LIRI-JP 17 78883242 78883242 single base substitution C T intron_variant LIRI-JP 17 78884867 78884867 single base substitution G A downstream_gene_variant LIRI-JP 17 78884867 78884867 single base substitution G A intron_variant LIRI-JP 17 78885674 78885674 single base substitution G A downstream_gene_variant LIRI-JP 17 78885674 78885674 single base substitution G A intron_variant LIRI-JP 17 78887761 78887761 single base substitution C T downstream_gene_variant LIRI-JP 17 78887761 78887761 single base substitution C T intron_variant LIRI-JP 17 78890231 78890231 single base substitution A G intron_variant LIRI-JP 17 78891884 78891884 single base substitution G A intron_variant LIRI-JP 17 78891884 78891884 single base substitution G A upstream_gene_variant LIRI-JP 17 78893968 78893968 single base substitution G A intron_variant LIRI-JP 17 78893968 78893968 single base substitution G A upstream_gene_variant LIRI-JP 17 78894514 78894514 single base substitution G A intron_variant LIRI-JP 17 78894514 78894514 single base substitution G A upstream_gene_variant LIRI-JP 17 78899944 78899944 single base substitution T G downstream_gene_variant LIRI-JP 17 78899944 78899944 single base substitution T G intron_variant LIRI-JP 17 78899971 78899971 single base substitution G A downstream_gene_variant LIRI-JP 17 78899971 78899971 single base substitution G A intron_variant LIRI-JP 17 78902760 78902760 single base substitution C G downstream_gene_variant LIRI-JP 17 78902760 78902760 single base substitution C G intron_variant LIRI-JP 17 78908446 78908446 single base substitution A G intron_variant LIRI-JP 17 78908681 78908681 single base substitution C G intron_variant LIRI-JP 17 78909780 78909780 single base substitution T G intron_variant LIRI-JP 17 78910626 78910626 single base substitution A G intron_variant LIRI-JP 17 78912369 78912369 single base substitution C T intron_variant LIRI-JP 17 78913190 78913190 single base substitution C A intron_variant LIRI-JP 17 78915299 78915299 single base substitution C T intron_variant LIRI-JP 17 78915299 78915299 single base substitution C T upstream_gene_variant LIRI-JP 17 78918148 78918148 single base substitution A T intron_variant LIRI-JP 17 78918148 78918148 single base substitution A T upstream_gene_variant LIRI-JP 17 78918350 78918350 single base substitution C A intron_variant LIRI-JP 17 78918350 78918350 single base substitution C A upstream_gene_variant LIRI-JP 17 78921726 78921726 single base substitution G C intron_variant LIRI-JP 17 78921726 78921726 single base substitution G C upstream_gene_variant LIRI-JP 17 78921858 78921858 single base substitution C T intron_variant LIRI-JP 17 78921858 78921858 single base substitution C T upstream_gene_variant LIRI-JP 17 78923324 78923324 single base substitution C T exon_variant LIRI-JP 17 78923324 78923324 single base substitution C T missense_variant S1116L 3347C>T LIRI-JP 17 78923324 78923324 single base substitution C T missense_variant S958L 2873C>T LIRI-JP 17 78923662 78923662 single base substitution G A downstream_gene_variant LIRI-JP 17 78923662 78923662 single base substitution G A intron_variant LIRI-JP 17 78925838 78925838 single base substitution G C downstream_gene_variant LIRI-JP 17 78925838 78925838 single base substitution G C intron_variant LIRI-JP 17 78926278 78926278 single base substitution C T downstream_gene_variant LIRI-JP 17 78926278 78926278 single base substitution C T intron_variant LIRI-JP 17 78926406 78926406 single base substitution G A downstream_gene_variant LIRI-JP 17 78926406 78926406 single base substitution G A intron_variant LIRI-JP 17 78927481 78927481 single base substitution G A downstream_gene_variant LIRI-JP 17 78927481 78927481 single base substitution G A intron_variant LIRI-JP 17 78928212 78928212 single base substitution G T downstream_gene_variant LIRI-JP 17 78928212 78928212 single base substitution G T intron_variant LIRI-JP 17 78930812 78930812 single base substitution A G intron_variant LIRI-JP 17 78931571 78931571 single base substitution C A intron_variant LIRI-JP 17 78931637 78931637 single base substitution A G intron_variant LIRI-JP 17 78932590 78932590 single base substitution C G intron_variant LIRI-JP 17 78932756 78932756 single base substitution G A intron_variant LIRI-JP 17 78938794 78938794 single base substitution C T 3_prime_UTR_variant LIRI-JP 17 78938794 78938794 single base substitution C T downstream_gene_variant LIRI-JP 17 78938794 78938794 single base substitution C T exon_variant LIRI-JP 17 78942050 78942050 single base substitution C T downstream_gene_variant LIRI-JP 17 78942062 78942062 single base substitution T G downstream_gene_variant LUSC-KR 17 78515314 78515314 single base substitution C G upstream_gene_variant LUSC-KR 17 78522649 78522649 single base substitution G A intron_variant LUSC-KR 17 78525912 78525912 single base substitution C T intron_variant LUSC-KR 17 78526399 78526399 single base substitution A G intron_variant LUSC-KR 17 78536912 78536912 single base substitution G T intron_variant LUSC-KR 17 78548859 78548859 single base substitution G A intron_variant LUSC-KR 17 78549022 78549022 single base substitution C T intron_variant LUSC-KR 17 78563065 78563065 single base substitution G T intron_variant LUSC-KR 17 78564218 78564218 single base substitution C T intron_variant LUSC-KR 17 78564265 78564265 single base substitution A G intron_variant LUSC-KR 17 78565496 78565496 single base substitution C T intron_variant LUSC-KR 17 78565798 78565798 single base substitution C T intron_variant LUSC-KR 17 78565830 78565830 single base substitution C T intron_variant LUSC-KR 17 78566391 78566391 single base substitution C T intron_variant LUSC-KR 17 78566442 78566442 single base substitution C G intron_variant LUSC-KR 17 78566606 78566606 single base substitution C G intron_variant LUSC-KR 17 78566796 78566796 single base substitution C G intron_variant LUSC-KR 17 78567235 78567235 single base substitution C T exon_variant LUSC-KR 17 78567235 78567235 single base substitution C T intron_variant LUSC-KR 17 78567719 78567719 single base substitution C G downstream_gene_variant LUSC-KR 17 78567719 78567719 single base substitution C G intron_variant LUSC-KR 17 78567828 78567828 single base substitution C A downstream_gene_variant LUSC-KR 17 78567828 78567828 single base substitution C A intron_variant LUSC-KR 17 78567902 78567902 single base substitution C G downstream_gene_variant LUSC-KR 17 78567902 78567902 single base substitution C G intron_variant LUSC-KR 17 78568381 78568381 single base substitution C A downstream_gene_variant LUSC-KR 17 78568381 78568381 single base substitution C A intron_variant LUSC-KR 17 78569453 78569453 single base substitution C G downstream_gene_variant LUSC-KR 17 78569453 78569453 single base substitution C G intron_variant LUSC-KR 17 78569946 78569946 single base substitution C A downstream_gene_variant LUSC-KR 17 78569946 78569946 single base substitution C A intron_variant LUSC-KR 17 78570175 78570175 single base substitution C G downstream_gene_variant LUSC-KR 17 78570175 78570175 single base substitution C G intron_variant LUSC-KR 17 78570635 78570635 single base substitution C G downstream_gene_variant LUSC-KR 17 78570635 78570635 single base substitution C G intron_variant LUSC-KR 17 78570648 78570648 single base substitution C G downstream_gene_variant LUSC-KR 17 78570648 78570648 single base substitution C G intron_variant LUSC-KR 17 78571656 78571656 single base substitution C G downstream_gene_variant LUSC-KR 17 78571656 78571656 single base substitution C G intron_variant LUSC-KR 17 78572401 78572401 single base substitution C A downstream_gene_variant LUSC-KR 17 78572401 78572401 single base substitution C A intron_variant LUSC-KR 17 78572988 78572988 single base substitution C A intron_variant LUSC-KR 17 78577968 78577968 single base substitution C A intron_variant LUSC-KR 17 78578444 78578444 single base substitution C T intron_variant LUSC-KR 17 78578529 78578529 single base substitution A T intron_variant LUSC-KR 17 78583534 78583534 single base substitution G C intron_variant LUSC-KR 17 78585622 78585622 single base substitution C T intron_variant LUSC-KR 17 78589232 78589232 single base substitution C G intron_variant LUSC-KR 17 78590120 78590120 single base substitution G T intron_variant LUSC-KR 17 78603210 78603210 single base substitution A G intron_variant LUSC-KR 17 78603419 78603419 single base substitution C T intron_variant LUSC-KR 17 78603421 78603421 single base substitution T C intron_variant LUSC-KR 17 78604276 78604276 single base substitution A G intron_variant LUSC-KR 17 78605493 78605493 single base substitution A G intron_variant LUSC-KR 17 78606198 78606198 single base substitution C G intron_variant LUSC-KR 17 78608186 78608186 single base substitution T C intron_variant LUSC-KR 17 78608192 78608192 single base substitution C T intron_variant LUSC-KR 17 78608531 78608531 single base substitution G A intron_variant LUSC-KR 17 78609842 78609842 single base substitution C G intron_variant LUSC-KR 17 78618082 78618082 single base substitution G A intron_variant LUSC-KR 17 78638953 78638953 single base substitution C G intron_variant LUSC-KR 17 78659205 78659205 single base substitution A T intron_variant LUSC-KR 17 78659628 78659628 single base substitution A T intron_variant LUSC-KR 17 78670586 78670586 single base substitution A T intron_variant LUSC-KR 17 78673138 78673138 single base substitution A G intron_variant LUSC-KR 17 78673174 78673174 single base substitution A G intron_variant LUSC-KR 17 78673180 78673180 single base substitution A G intron_variant LUSC-KR 17 78673351 78673351 single base substitution G A intron_variant LUSC-KR 17 78673384 78673384 single base substitution G A intron_variant LUSC-KR 17 78673432 78673432 single base substitution G A intron_variant LUSC-KR 17 78673584 78673584 single base substitution A T intron_variant LUSC-KR 17 78686875 78686875 single base substitution G A intron_variant LUSC-KR 17 78687580 78687580 single base substitution C T intron_variant LUSC-KR 17 78692355 78692355 single base substitution G A intron_variant LUSC-KR 17 78701100 78701100 single base substitution G A intron_variant LUSC-KR 17 78701306 78701306 single base substitution T C intron_variant LUSC-KR 17 78704618 78704618 single base substitution G T intron_variant LUSC-KR 17 78705764 78705764 single base substitution G T intron_variant LUSC-KR 17 78709668 78709668 single base substitution G T intron_variant LUSC-KR 17 78709731 78709731 single base substitution G A intron_variant LUSC-KR 17 78717136 78717136 single base substitution G A exon_variant LUSC-KR 17 78717136 78717136 single base substitution G A intron_variant LUSC-KR 17 78718282 78718282 single base substitution C T intron_variant LUSC-KR 17 78721944 78721944 single base substitution A G intron_variant LUSC-KR 17 78722504 78722504 single base substitution A G intron_variant LUSC-KR 17 78722515 78722515 single base substitution G A intron_variant LUSC-KR 17 78722547 78722547 single base substitution C T intron_variant LUSC-KR 17 78722559 78722559 single base substitution A G intron_variant LUSC-KR 17 78722596 78722596 single base substitution A G intron_variant LUSC-KR 17 78722779 78722779 single base substitution G A intron_variant LUSC-KR 17 78723207 78723207 single base substitution A G intron_variant LUSC-KR 17 78723372 78723372 single base substitution A G intron_variant LUSC-KR 17 78726970 78726970 single base substitution G C intron_variant LUSC-KR 17 78727963 78727963 single base substitution C G 3_prime_UTR_variant LUSC-KR 17 78727963 78727963 single base substitution C G downstream_gene_variant LUSC-KR 17 78727963 78727963 single base substitution C G exon_variant LUSC-KR 17 78727963 78727963 single base substitution C G missense_variant P270A 808C>G LUSC-KR 17 78727963 78727963 single base substitution C G missense_variant P85A 253C>G LUSC-KR 17 78730966 78730966 single base substitution G C downstream_gene_variant LUSC-KR 17 78730966 78730966 single base substitution G C intron_variant LUSC-KR 17 78731627 78731627 single base substitution T G downstream_gene_variant LUSC-KR 17 78731627 78731627 single base substitution T G intron_variant LUSC-KR 17 78731965 78731965 single base substitution C T downstream_gene_variant LUSC-KR 17 78731965 78731965 single base substitution C T intron_variant LUSC-KR 17 78736663 78736663 single base substitution G C intron_variant LUSC-KR 17 78739115 78739115 single base substitution G A intron_variant LUSC-KR 17 78740404 78740404 single base substitution C T intron_variant LUSC-KR 17 78741075 78741075 single base substitution G T intron_variant LUSC-KR 17 78742439 78742439 single base substitution G C intron_variant LUSC-KR 17 78743296 78743296 single base substitution G A intron_variant LUSC-KR 17 78750376 78750376 single base substitution G A intron_variant LUSC-KR 17 78751062 78751062 single base substitution G A intron_variant LUSC-KR 17 78751146 78751146 single base substitution G A intron_variant LUSC-KR 17 78755508 78755508 single base substitution C T intron_variant LUSC-KR 17 78761284 78761284 single base substitution C T intron_variant LUSC-KR 17 78766924 78766924 single base substitution G A intron_variant LUSC-KR 17 78768574 78768574 single base substitution G A intron_variant LUSC-KR 17 78777228 78777228 single base substitution G T intron_variant LUSC-KR 17 78779845 78779845 single base substitution A G intron_variant LUSC-KR 17 78780180 78780180 single base substitution G C intron_variant LUSC-KR 17 78781218 78781218 single base substitution C A intron_variant LUSC-KR 17 78785502 78785502 single base substitution A C intron_variant LUSC-KR 17 78785648 78785648 single base substitution C A intron_variant LUSC-KR 17 78790978 78790978 single base substitution G A intron_variant LUSC-KR 17 78794662 78794662 single base substitution C T intron_variant LUSC-KR 17 78798929 78798929 single base substitution T C downstream_gene_variant LUSC-KR 17 78798929 78798929 single base substitution T C intron_variant LUSC-KR 17 78804937 78804937 single base substitution A T intron_variant LUSC-KR 17 78815016 78815016 single base substitution G A intron_variant LUSC-KR 17 78815300 78815300 single base substitution A G intron_variant LUSC-KR 17 78815625 78815625 single base substitution T A intron_variant LUSC-KR 17 78815728 78815728 single base substitution A T intron_variant LUSC-KR 17 78815788 78815788 single base substitution C T intron_variant LUSC-KR 17 78817716 78817716 single base substitution G A intron_variant LUSC-KR 17 78820329 78820329 single base substitution C T 3_prime_UTR_variant LUSC-KR 17 78820329 78820329 single base substitution C T exon_variant LUSC-KR 17 78820329 78820329 single base substitution C T synonymous_variant G238G 714C>T LUSC-KR 17 78820329 78820329 single base substitution C T synonymous_variant G423G 1269C>T LUSC-KR 17 78832643 78832643 single base substitution C T downstream_gene_variant LUSC-KR 17 78832643 78832643 single base substitution C T intron_variant LUSC-KR 17 78833056 78833056 single base substitution G A downstream_gene_variant LUSC-KR 17 78833056 78833056 single base substitution G A intron_variant LUSC-KR 17 78836513 78836513 single base substitution C T downstream_gene_variant LUSC-KR 17 78836513 78836513 single base substitution C T intron_variant LUSC-KR 17 78846775 78846775 single base substitution G T intron_variant LUSC-KR 17 78848541 78848541 single base substitution A T intron_variant LUSC-KR 17 78849587 78849587 single base substitution G T intron_variant LUSC-KR 17 78850816 78850816 single base substitution T C intron_variant LUSC-KR 17 78858247 78858247 single base substitution A T intron_variant LUSC-KR 17 78858829 78858829 single base substitution G T exon_variant LUSC-KR 17 78858829 78858829 single base substitution G T intron_variant LUSC-KR 17 78858829 78858829 single base substitution G T missense_variant A622S 1864G>T LUSC-KR 17 78860766 78860766 single base substitution G C intron_variant LUSC-KR 17 78861081 78861081 single base substitution A G intron_variant LUSC-KR 17 78863694 78863694 single base substitution C T intron_variant LUSC-KR 17 78865546 78865546 single base substitution T C exon_variant LUSC-KR 17 78865546 78865546 single base substitution T C synonymous_variant L512L 1536T>C LUSC-KR 17 78865546 78865546 single base substitution T C synonymous_variant L670L 2010T>C LUSC-KR 17 78872443 78872443 single base substitution A C intron_variant LUSC-KR 17 78872458 78872458 single base substitution T C intron_variant LUSC-KR 17 78888966 78888966 single base substitution A G intron_variant LUSC-KR 17 78889072 78889072 single base substitution T C intron_variant LUSC-KR 17 78889203 78889203 single base substitution A G intron_variant LUSC-KR 17 78889294 78889294 single base substitution G A intron_variant LUSC-KR 17 78889352 78889352 single base substitution C T intron_variant LUSC-KR 17 78889632 78889632 single base substitution T C intron_variant LUSC-KR 17 78892348 78892348 single base substitution A G intron_variant LUSC-KR 17 78892348 78892348 single base substitution A G upstream_gene_variant LUSC-KR 17 78894705 78894705 single base substitution G A intron_variant LUSC-KR 17 78894705 78894705 single base substitution G A upstream_gene_variant LUSC-KR 17 78897877 78897877 single base substitution C T intron_variant LUSC-KR 17 78897877 78897877 single base substitution C T missense_variant A231V 692C>T LUSC-KR 17 78900241 78900241 single base substitution G A downstream_gene_variant LUSC-KR 17 78900241 78900241 single base substitution G A intron_variant LUSC-KR 17 78904146 78904146 single base substitution A T intron_variant LUSC-KR 17 78904155 78904155 single base substitution C T intron_variant LUSC-KR 17 78905265 78905265 single base substitution G A intron_variant LUSC-KR 17 78905801 78905801 single base substitution G A intron_variant LUSC-KR 17 78907939 78907939 single base substitution G A intron_variant LUSC-KR 17 78907944 78907944 single base substitution G A intron_variant LUSC-KR 17 78907969 78907969 single base substitution C G intron_variant LUSC-KR 17 78911119 78911119 single base substitution G C intron_variant LUSC-KR 17 78911668 78911668 single base substitution G A intron_variant LUSC-KR 17 78915881 78915881 single base substitution C T intron_variant LUSC-KR 17 78915881 78915881 single base substitution C T upstream_gene_variant LUSC-KR 17 78923377 78923377 single base substitution G A downstream_gene_variant LUSC-KR 17 78923377 78923377 single base substitution G A intron_variant LUSC-KR 17 78934378 78934378 single base substitution C T intron_variant LUSC-KR 17 78936033 78936033 single base substitution G C downstream_gene_variant LUSC-KR 17 78936033 78936033 single base substitution G C intron_variant LUSC-KR 17 78936481 78936481 single base substitution G T downstream_gene_variant LUSC-KR 17 78936481 78936481 single base substitution G T intron_variant LUSC-KR 17 78937295 78937295 single base substitution G C downstream_gene_variant LUSC-KR 17 78937295 78937295 single base substitution G C intron_variant LUSC-KR 17 78937548 78937548 single base substitution C G downstream_gene_variant LUSC-KR 17 78937548 78937548 single base substitution C G intron_variant LUSC-KR 17 78938204 78938204 single base substitution G C 3_prime_UTR_variant LUSC-KR 17 78938204 78938204 single base substitution G C downstream_gene_variant LUSC-KR 17 78938204 78938204 single base substitution G C exon_variant LUSC-US 17 78681766 78681766 single base substitution C A 3_prime_UTR_variant LUSC-US 17 78681766 78681766 single base substitution C A 5_prime_UTR_variant LUSC-US 17 78681766 78681766 single base substitution C A exon_variant LUSC-US 17 78681766 78681766 single base substitution C A synonymous_variant P158P 474C>A LUSC-US 17 78681766 78681766 single base substitution C A upstream_gene_variant LUSC-US 17 78796099 78796099 single base substitution G A missense_variant R145Q 434G>A LUSC-US 17 78796099 78796099 single base substitution G A missense_variant R330Q 989G>A LUSC-US 17 78796099 78796099 single base substitution G A splice_region_variant LUSC-US 17 78866598 78866598 single base substitution G A exon_variant LUSC-US 17 78866598 78866598 single base substitution G A missense_variant G566E 1697G>A LUSC-US 17 78866598 78866598 single base substitution G A missense_variant G724E 2171G>A LUSC-US 17 78867568 78867568 single base substitution C T exon_variant LUSC-US 17 78867568 78867568 single base substitution C T synonymous_variant T610T 1830C>T LUSC-US 17 78867568 78867568 single base substitution C T synonymous_variant T768T 2304C>T LUSC-US 17 78896603 78896603 single base substitution A G exon_variant LUSC-US 17 78896603 78896603 single base substitution A G missense_variant K27R 80A>G LUSC-US 17 78896603 78896603 single base substitution A G missense_variant K709R 2126A>G LUSC-US 17 78896603 78896603 single base substitution A G missense_variant K867R 2600A>G LUSC-US 17 78921039 78921039 single base substitution G A exon_variant LUSC-US 17 78921039 78921039 single base substitution G A stop_gained W1051* 3153G>A LUSC-US 17 78921039 78921039 single base substitution G A stop_gained W893* 2679G>A LUSC-US 17 78921039 78921039 single base substitution G A upstream_gene_variant MALY-DE 17 78514187 78514187 insertion of <=200bp - A upstream_gene_variant MALY-DE 17 78514440 78514440 single base substitution T C upstream_gene_variant MALY-DE 17 78514689 78514689 single base substitution T A upstream_gene_variant MALY-DE 17 78522527 78522527 single base substitution C T intron_variant MALY-DE 17 78548872 78548872 single base substitution A C intron_variant MALY-DE 17 78549799 78549799 single base substitution A C intron_variant MALY-DE 17 78553994 78553994 single base substitution G C intron_variant MALY-DE 17 78559059 78559059 single base substitution C T intron_variant MALY-DE 17 78561289 78561289 single base substitution G A intron_variant MALY-DE 17 78568837 78568838 deletion of <=200bp GA - downstream_gene_variant MALY-DE 17 78568837 78568838 deletion of <=200bp GA - intron_variant MALY-DE 17 78568972 78568972 single base substitution T C downstream_gene_variant MALY-DE 17 78568972 78568972 single base substitution T C intron_variant MALY-DE 17 78569122 78569122 single base substitution A G downstream_gene_variant MALY-DE 17 78569122 78569122 single base substitution A G intron_variant MALY-DE 17 78570188 78570188 single base substitution C T downstream_gene_variant MALY-DE 17 78570188 78570188 single base substitution C T intron_variant MALY-DE 17 78572683 78572683 insertion of <=200bp - TCTA intron_variant MALY-DE 17 78578728 78578728 single base substitution T C intron_variant MALY-DE 17 78579264 78579264 single base substitution T G intron_variant MALY-DE 17 78583685 78583685 single base substitution A T intron_variant MALY-DE 17 78585628 78585628 insertion of <=200bp - T intron_variant MALY-DE 17 78587246 78587246 single base substitution A C intron_variant MALY-DE 17 78596736 78596736 single base substitution T A intron_variant MALY-DE 17 78600332 78600332 single base substitution T G intron_variant MALY-DE 17 78602045 78602045 single base substitution A G intron_variant MALY-DE 17 78603280 78603280 single base substitution G A intron_variant MALY-DE 17 78608055 78608055 single base substitution C T intron_variant MALY-DE 17 78608493 78608494 deletion of <=200bp GC - intron_variant MALY-DE 17 78618475 78618475 single base substitution A G intron_variant MALY-DE 17 78621645 78621645 single base substitution G C intron_variant MALY-DE 17 78622048 78622048 single base substitution G A intron_variant MALY-DE 17 78623153 78623153 single base substitution G A intron_variant MALY-DE 17 78644427 78644427 single base substitution C T intron_variant MALY-DE 17 78647387 78647387 single base substitution G A intron_variant MALY-DE 17 78649573 78649573 single base substitution T C intron_variant MALY-DE 17 78653734 78653734 single base substitution C G intron_variant MALY-DE 17 78660160 78660160 insertion of <=200bp - G intron_variant MALY-DE 17 78666807 78666807 single base substitution T G intron_variant MALY-DE 17 78672058 78672058 single base substitution C T intron_variant MALY-DE 17 78675752 78675752 single base substitution C A intron_variant MALY-DE 17 78681051 78681051 single base substitution A T intron_variant MALY-DE 17 78681051 78681051 single base substitution A T upstream_gene_variant MALY-DE 17 78681899 78681899 single base substitution T A intron_variant MALY-DE 17 78681899 78681899 single base substitution T A upstream_gene_variant MALY-DE 17 78684008 78684008 single base substitution T G intron_variant MALY-DE 17 78684032 78684032 single base substitution T C intron_variant MALY-DE 17 78685535 78685535 single base substitution T G intron_variant MALY-DE 17 78687018 78687018 single base substitution G A intron_variant MALY-DE 17 78688177 78688177 single base substitution G A intron_variant MALY-DE 17 78691831 78691831 deletion of <=200bp T - intron_variant MALY-DE 17 78694652 78694652 single base substitution G A intron_variant MALY-DE 17 78695939 78695939 single base substitution C T intron_variant MALY-DE 17 78698790 78698790 single base substitution G T intron_variant MALY-DE 17 78699211 78699211 single base substitution G A intron_variant MALY-DE 17 78705672 78705672 single base substitution G A intron_variant MALY-DE 17 78706451 78706451 single base substitution T G intron_variant MALY-DE 17 78713459 78713459 single base substitution C T intron_variant MALY-DE 17 78713459 78713459 single base substitution C T upstream_gene_variant MALY-DE 17 78718665 78718665 single base substitution T C intron_variant MALY-DE 17 78718681 78718681 single base substitution A T intron_variant MALY-DE 17 78718683 78718683 single base substitution C T intron_variant MALY-DE 17 78733963 78733963 single base substitution T G intron_variant MALY-DE 17 78740464 78740464 single base substitution T C intron_variant MALY-DE 17 78746479 78746479 single base substitution G A intron_variant MALY-DE 17 78755410 78755410 single base substitution T C intron_variant MALY-DE 17 78756191 78756191 single base substitution T A intron_variant MALY-DE 17 78757443 78757443 single base substitution G A intron_variant MALY-DE 17 78760540 78760540 single base substitution T G intron_variant MALY-DE 17 78763145 78763151 deletion of <=200bp CTTTGAT - intron_variant MALY-DE 17 78769649 78769649 single base substitution T A intron_variant MALY-DE 17 78773366 78773366 single base substitution G A intron_variant MALY-DE 17 78777435 78777435 single base substitution G A intron_variant MALY-DE 17 78782723 78782723 single base substitution G A intron_variant MALY-DE 17 78801488 78801488 single base substitution G A downstream_gene_variant MALY-DE 17 78801488 78801488 single base substitution G A intron_variant MALY-DE 17 78807058 78807058 single base substitution G A intron_variant MALY-DE 17 78815041 78815041 single base substitution G C intron_variant MALY-DE 17 78836485 78836485 insertion of <=200bp - C downstream_gene_variant MALY-DE 17 78836485 78836485 insertion of <=200bp - C intron_variant MALY-DE 17 78845032 78845032 single base substitution A C intron_variant MALY-DE 17 78850727 78850727 deletion of <=200bp C - intron_variant MALY-DE 17 78850824 78850824 deletion of <=200bp C - intron_variant MALY-DE 17 78862065 78862065 single base substitution C T intron_variant MALY-DE 17 78864021 78864021 single base substitution C T intron_variant MALY-DE 17 78867196 78867197 deletion of <=200bp GT - intron_variant MALY-DE 17 78870228 78870235 deletion of <=200bp CCAACACC - intron_variant MALY-DE 17 78870244 78870244 single base substitution A G intron_variant MALY-DE 17 78871005 78871005 single base substitution C T intron_variant MALY-DE 17 78871006 78871006 single base substitution A G intron_variant MALY-DE 17 78884535 78884535 single base substitution T C downstream_gene_variant MALY-DE 17 78884535 78884535 single base substitution T C intron_variant MALY-DE 17 78894323 78894323 single base substitution G A intron_variant MALY-DE 17 78894323 78894323 single base substitution G A upstream_gene_variant MALY-DE 17 78896922 78896922 single base substitution G A intron_variant MALY-DE 17 78899246 78899246 single base substitution G A downstream_gene_variant MALY-DE 17 78899246 78899246 single base substitution G A exon_variant MALY-DE 17 78899246 78899246 single base substitution G A stop_gained W804* 2411G>A MALY-DE 17 78899246 78899246 single base substitution G A stop_gained W962* 2885G>A MALY-DE 17 78901032 78901032 single base substitution A G downstream_gene_variant MALY-DE 17 78901032 78901032 single base substitution A G intron_variant MALY-DE 17 78901613 78901613 single base substitution A G downstream_gene_variant MALY-DE 17 78901613 78901613 single base substitution A G intron_variant MALY-DE 17 78906587 78906587 single base substitution A C intron_variant MALY-DE 17 78909646 78909646 insertion of <=200bp - A intron_variant MALY-DE 17 78910508 78910508 single base substitution A T intron_variant MALY-DE 17 78916426 78916426 single base substitution G C intron_variant MALY-DE 17 78916426 78916426 single base substitution G C upstream_gene_variant MALY-DE 17 78924303 78924303 deletion of <=200bp T - downstream_gene_variant MALY-DE 17 78924303 78924303 deletion of <=200bp T - intron_variant MALY-DE 17 78924832 78924832 single base substitution T G downstream_gene_variant MALY-DE 17 78924832 78924832 single base substitution T G intron_variant MALY-DE 17 78939851 78939851 single base substitution C T 3_prime_UTR_variant MALY-DE 17 78939851 78939851 single base substitution C T downstream_gene_variant MALY-DE 17 78939851 78939851 single base substitution C T exon_variant MALY-DE 17 78941322 78941322 single base substitution C G downstream_gene_variant MALY-DE 17 78943788 78943788 single base substitution C T downstream_gene_variant MELA-AU 17 78514095 78514095 single base substitution G A upstream_gene_variant MELA-AU 17 78514233 78514233 single base substitution C T upstream_gene_variant MELA-AU 17 78514294 78514294 single base substitution C T upstream_gene_variant MELA-AU 17 78514627 78514627 single base substitution C T upstream_gene_variant MELA-AU 17 78514628 78514628 single base substitution C T upstream_gene_variant MELA-AU 17 78514786 78514786 single base substitution G A upstream_gene_variant MELA-AU 17 78515019 78515019 single base substitution C T upstream_gene_variant MELA-AU 17 78515190 78515190 single base substitution G A upstream_gene_variant MELA-AU 17 78515437 78515438 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 78515512 78515512 single base substitution G T upstream_gene_variant MELA-AU 17 78515603 78515603 single base substitution G A upstream_gene_variant MELA-AU 17 78515767 78515767 single base substitution G A upstream_gene_variant MELA-AU 17 78515817 78515817 single base substitution G A upstream_gene_variant MELA-AU 17 78515841 78515841 single base substitution G A upstream_gene_variant MELA-AU 17 78515871 78515871 single base substitution G A upstream_gene_variant MELA-AU 17 78515952 78515952 single base substitution C G upstream_gene_variant MELA-AU 17 78516038 78516038 single base substitution C T upstream_gene_variant MELA-AU 17 78516065 78516065 single base substitution C T upstream_gene_variant MELA-AU 17 78516184 78516184 single base substitution G A upstream_gene_variant MELA-AU 17 78516318 78516318 single base substitution G A upstream_gene_variant MELA-AU 17 78516483 78516483 single base substitution C T upstream_gene_variant MELA-AU 17 78516811 78516811 single base substitution G A upstream_gene_variant MELA-AU 17 78517052 78517052 single base substitution G A upstream_gene_variant MELA-AU 17 78517078 78517078 single base substitution C T upstream_gene_variant MELA-AU 17 78517247 78517247 single base substitution G A upstream_gene_variant MELA-AU 17 78517404 78517404 single base substitution C T upstream_gene_variant MELA-AU 17 78517557 78517557 single base substitution C T upstream_gene_variant MELA-AU 17 78517697 78517697 single base substitution C T upstream_gene_variant MELA-AU 17 78517780 78517780 single base substitution G A upstream_gene_variant MELA-AU 17 78517954 78517954 single base substitution G A upstream_gene_variant MELA-AU 17 78517982 78517982 single base substitution C T upstream_gene_variant MELA-AU 17 78518111 78518111 single base substitution G A upstream_gene_variant MELA-AU 17 78518187 78518188 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 78518446 78518446 single base substitution C A upstream_gene_variant MELA-AU 17 78518659 78518659 single base substitution C T 5_prime_UTR_variant MELA-AU 17 78518659 78518659 single base substitution C T exon_variant MELA-AU 17 78518659 78518659 single base substitution C T upstream_gene_variant MELA-AU 17 78518660 78518660 single base substitution C T 5_prime_UTR_variant MELA-AU 17 78518660 78518660 single base substitution C T exon_variant MELA-AU 17 78518660 78518660 single base substitution C T upstream_gene_variant MELA-AU 17 78518666 78518667 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 17 78518666 78518667 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 17 78518666 78518667 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 78519326 78519326 single base substitution C T 5_prime_UTR_variant MELA-AU 17 78519326 78519326 single base substitution C T exon_variant MELA-AU 17 78519326 78519326 single base substitution C T upstream_gene_variant MELA-AU 17 78519423 78519423 single base substitution C T 5_prime_UTR_variant MELA-AU 17 78519423 78519423 single base substitution C T exon_variant MELA-AU 17 78519423 78519423 single base substitution C T upstream_gene_variant MELA-AU 17 78519994 78519994 deletion of <=200bp T - intron_variant MELA-AU 17 78520667 78520667 single base substitution G T intron_variant MELA-AU 17 78520979 78520980 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 17 78522336 78522336 single base substitution G T intron_variant MELA-AU 17 78523284 78523284 single base substitution C T intron_variant MELA-AU 17 78523309 78523309 single base substitution C T intron_variant MELA-AU 17 78524141 78524141 single base substitution G A intron_variant MELA-AU 17 78524215 78524215 single base substitution C T intron_variant MELA-AU 17 78524810 78524812 multiple base substitution (>=2bp and <=200bp) CCC TTG intron_variant MELA-AU 17 78525407 78525407 single base substitution C T intron_variant MELA-AU 17 78526294 78526294 single base substitution C T intron_variant MELA-AU 17 78526304 78526304 single base substitution C T intron_variant MELA-AU 17 78526841 78526841 single base substitution T A intron_variant MELA-AU 17 78526849 78526849 single base substitution C T intron_variant MELA-AU 17 78527148 78527148 single base substitution G A intron_variant MELA-AU 17 78529038 78529038 single base substitution C T intron_variant MELA-AU 17 78529045 78529045 single base substitution C T intron_variant MELA-AU 17 78529597 78529597 single base substitution C T intron_variant MELA-AU 17 78529844 78529844 single base substitution C T intron_variant MELA-AU 17 78530108 78530108 single base substitution T C intron_variant MELA-AU 17 78531043 78531043 single base substitution C T intron_variant MELA-AU 17 78531892 78531892 single base substitution G A intron_variant MELA-AU 17 78533286 78533286 single base substitution C T intron_variant MELA-AU 17 78534143 78534143 single base substitution A G intron_variant MELA-AU 17 78534634 78534634 single base substitution G C intron_variant MELA-AU 17 78534774 78534774 single base substitution C T intron_variant MELA-AU 17 78534980 78534980 single base substitution C T intron_variant MELA-AU 17 78536102 78536102 single base substitution G A intron_variant MELA-AU 17 78536180 78536180 single base substitution C T intron_variant MELA-AU 17 78536416 78536416 single base substitution T G intron_variant MELA-AU 17 78537476 78537476 single base substitution A G intron_variant MELA-AU 17 78539790 78539790 single base substitution T A intron_variant MELA-AU 17 78539944 78539944 single base substitution C T intron_variant MELA-AU 17 78540507 78540507 single base substitution C T intron_variant MELA-AU 17 78541193 78541193 single base substitution G A intron_variant MELA-AU 17 78541602 78541603 multiple base substitution (>=2bp and <=200bp) TA AT intron_variant MELA-AU 17 78541967 78541967 single base substitution C T intron_variant MELA-AU 17 78542612 78542612 single base substitution C T intron_variant MELA-AU 17 78542790 78542790 single base substitution C T intron_variant MELA-AU 17 78542837 78542837 single base substitution C T intron_variant MELA-AU 17 78542989 78542989 single base substitution C T intron_variant MELA-AU 17 78542993 78542993 single base substitution C T intron_variant MELA-AU 17 78543653 78543653 single base substitution C T intron_variant MELA-AU 17 78543718 78543718 single base substitution C T intron_variant MELA-AU 17 78543759 78543759 single base substitution G A intron_variant MELA-AU 17 78545224 78545224 single base substitution C T intron_variant MELA-AU 17 78545255 78545255 single base substitution C T intron_variant MELA-AU 17 78545644 78545644 single base substitution C T intron_variant MELA-AU 17 78546457 78546457 single base substitution C T intron_variant MELA-AU 17 78547688 78547688 single base substitution C T intron_variant MELA-AU 17 78547885 78547885 single base substitution C T intron_variant MELA-AU 17 78548416 78548416 single base substitution C T intron_variant MELA-AU 17 78548706 78548706 single base substitution C T intron_variant MELA-AU 17 78548793 78548793 single base substitution C T intron_variant MELA-AU 17 78549030 78549030 single base substitution C T intron_variant MELA-AU 17 78549311 78549311 single base substitution C T intron_variant MELA-AU 17 78550521 78550521 single base substitution T A intron_variant MELA-AU 17 78550620 78550620 single base substitution C T intron_variant MELA-AU 17 78551655 78551655 single base substitution T C intron_variant MELA-AU 17 78551672 78551672 single base substitution T C intron_variant MELA-AU 17 78552276 78552276 single base substitution C T intron_variant MELA-AU 17 78552963 78552963 single base substitution C T intron_variant MELA-AU 17 78553023 78553023 single base substitution C T intron_variant MELA-AU 17 78553463 78553463 single base substitution C T intron_variant MELA-AU 17 78554034 78554034 single base substitution T A intron_variant MELA-AU 17 78554353 78554353 single base substitution C T intron_variant MELA-AU 17 78555030 78555030 single base substitution G A intron_variant MELA-AU 17 78555205 78555205 single base substitution T C intron_variant MELA-AU 17 78555639 78555639 single base substitution C T intron_variant MELA-AU 17 78556027 78556027 single base substitution G A intron_variant MELA-AU 17 78556351 78556351 single base substitution T C intron_variant MELA-AU 17 78556469 78556469 single base substitution C T intron_variant MELA-AU 17 78558493 78558493 single base substitution C T intron_variant MELA-AU 17 78559067 78559067 single base substitution C A intron_variant MELA-AU 17 78559249 78559249 single base substitution C T intron_variant MELA-AU 17 78560147 78560147 single base substitution C T intron_variant MELA-AU 17 78560416 78560416 single base substitution C A intron_variant MELA-AU 17 78561961 78561961 single base substitution C T intron_variant MELA-AU 17 78561977 78561977 single base substitution T C intron_variant MELA-AU 17 78562001 78562001 single base substitution C T intron_variant MELA-AU 17 78562364 78562364 single base substitution G A intron_variant MELA-AU 17 78562843 78562843 single base substitution C T intron_variant MELA-AU 17 78563586 78563586 single base substitution C A intron_variant MELA-AU 17 78563705 78563705 single base substitution A G intron_variant MELA-AU 17 78563760 78563760 insertion of <=200bp - T intron_variant MELA-AU 17 78565632 78565632 single base substitution G A intron_variant MELA-AU 17 78565794 78565795 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 78565901 78565901 single base substitution C T intron_variant MELA-AU 17 78566170 78566170 single base substitution C T intron_variant MELA-AU 17 78566934 78566934 single base substitution C T intron_variant MELA-AU 17 78567119 78567120 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 17 78567119 78567120 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78567349 78567349 single base substitution A C exon_variant MELA-AU 17 78567349 78567349 single base substitution A C intron_variant MELA-AU 17 78567774 78567774 single base substitution C T downstream_gene_variant MELA-AU 17 78567774 78567774 single base substitution C T intron_variant MELA-AU 17 78567846 78567846 single base substitution C T downstream_gene_variant MELA-AU 17 78567846 78567846 single base substitution C T intron_variant MELA-AU 17 78568160 78568160 single base substitution G T downstream_gene_variant MELA-AU 17 78568160 78568160 single base substitution G T intron_variant MELA-AU 17 78568236 78568236 single base substitution C T downstream_gene_variant MELA-AU 17 78568236 78568236 single base substitution C T intron_variant MELA-AU 17 78568633 78568633 single base substitution C T downstream_gene_variant MELA-AU 17 78568633 78568633 single base substitution C T intron_variant MELA-AU 17 78568687 78568687 single base substitution C T downstream_gene_variant MELA-AU 17 78568687 78568687 single base substitution C T intron_variant MELA-AU 17 78569267 78569267 single base substitution C T downstream_gene_variant MELA-AU 17 78569267 78569267 single base substitution C T intron_variant MELA-AU 17 78569412 78569412 single base substitution A G downstream_gene_variant MELA-AU 17 78569412 78569412 single base substitution A G intron_variant MELA-AU 17 78570255 78570255 single base substitution C T downstream_gene_variant MELA-AU 17 78570255 78570255 single base substitution C T intron_variant MELA-AU 17 78570301 78570301 single base substitution G A downstream_gene_variant MELA-AU 17 78570301 78570301 single base substitution G A intron_variant MELA-AU 17 78570509 78570509 single base substitution C T downstream_gene_variant MELA-AU 17 78570509 78570509 single base substitution C T intron_variant MELA-AU 17 78570770 78570770 single base substitution C T downstream_gene_variant MELA-AU 17 78570770 78570770 single base substitution C T intron_variant MELA-AU 17 78571643 78571643 single base substitution C T downstream_gene_variant MELA-AU 17 78571643 78571643 single base substitution C T intron_variant MELA-AU 17 78572389 78572389 single base substitution C T downstream_gene_variant MELA-AU 17 78572389 78572389 single base substitution C T intron_variant MELA-AU 17 78572572 78572572 single base substitution C T downstream_gene_variant MELA-AU 17 78572572 78572572 single base substitution C T intron_variant MELA-AU 17 78573111 78573111 single base substitution C T intron_variant MELA-AU 17 78573302 78573302 single base substitution C T intron_variant MELA-AU 17 78573440 78573440 single base substitution A T intron_variant MELA-AU 17 78574417 78574417 single base substitution C T intron_variant MELA-AU 17 78575050 78575050 single base substitution G T intron_variant MELA-AU 17 78575098 78575098 single base substitution C T intron_variant MELA-AU 17 78575194 78575195 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78576622 78576622 single base substitution T A intron_variant MELA-AU 17 78576623 78576623 single base substitution C T intron_variant MELA-AU 17 78576994 78576994 single base substitution C T intron_variant MELA-AU 17 78577350 78577350 single base substitution C T intron_variant MELA-AU 17 78577458 78577458 single base substitution G A intron_variant MELA-AU 17 78577705 78577705 single base substitution G A intron_variant MELA-AU 17 78578617 78578617 single base substitution C T intron_variant MELA-AU 17 78578688 78578688 single base substitution C T intron_variant MELA-AU 17 78579093 78579093 single base substitution C T intron_variant MELA-AU 17 78579444 78579444 single base substitution C T intron_variant MELA-AU 17 78579520 78579520 single base substitution C T intron_variant MELA-AU 17 78579854 78579854 single base substitution C T intron_variant MELA-AU 17 78580602 78580602 single base substitution C T intron_variant MELA-AU 17 78581276 78581276 single base substitution T A intron_variant MELA-AU 17 78581579 78581579 single base substitution A G intron_variant MELA-AU 17 78582539 78582539 single base substitution G A intron_variant MELA-AU 17 78582857 78582857 single base substitution G A intron_variant MELA-AU 17 78583129 78583129 single base substitution C T intron_variant MELA-AU 17 78583469 78583469 single base substitution C T intron_variant MELA-AU 17 78583732 78583732 single base substitution C T intron_variant MELA-AU 17 78583789 78583789 single base substitution T C intron_variant MELA-AU 17 78584004 78584004 single base substitution C T intron_variant MELA-AU 17 78584199 78584199 single base substitution G A intron_variant MELA-AU 17 78584496 78584496 single base substitution C T intron_variant MELA-AU 17 78584773 78584773 single base substitution C T intron_variant MELA-AU 17 78584839 78584839 single base substitution C T intron_variant MELA-AU 17 78584858 78584858 single base substitution G A intron_variant MELA-AU 17 78585968 78585968 single base substitution C T intron_variant MELA-AU 17 78586799 78586799 single base substitution G A intron_variant MELA-AU 17 78586840 78586841 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78588168 78588168 single base substitution C T intron_variant MELA-AU 17 78588386 78588386 single base substitution C T intron_variant MELA-AU 17 78588641 78588641 single base substitution G A intron_variant MELA-AU 17 78588838 78588838 single base substitution T C intron_variant MELA-AU 17 78588983 78588983 single base substitution C T intron_variant MELA-AU 17 78589297 78589297 single base substitution G A intron_variant MELA-AU 17 78589474 78589474 single base substitution C T intron_variant MELA-AU 17 78589548 78589548 single base substitution C T intron_variant MELA-AU 17 78589645 78589645 single base substitution C T intron_variant MELA-AU 17 78591568 78591568 single base substitution C T intron_variant MELA-AU 17 78591587 78591587 single base substitution C T intron_variant MELA-AU 17 78591744 78591744 single base substitution C T intron_variant MELA-AU 17 78592127 78592127 single base substitution G A intron_variant MELA-AU 17 78592193 78592193 single base substitution T C intron_variant MELA-AU 17 78592377 78592377 single base substitution C T intron_variant MELA-AU 17 78592544 78592544 single base substitution C T intron_variant MELA-AU 17 78592785 78592785 single base substitution C T intron_variant MELA-AU 17 78593257 78593257 single base substitution C T intron_variant MELA-AU 17 78593783 78593783 single base substitution T C intron_variant MELA-AU 17 78594098 78594098 single base substitution T C intron_variant MELA-AU 17 78594386 78594386 single base substitution G A intron_variant MELA-AU 17 78594449 78594449 single base substitution C T intron_variant MELA-AU 17 78594754 78594754 single base substitution C T intron_variant MELA-AU 17 78596312 78596312 single base substitution C T intron_variant MELA-AU 17 78596449 78596449 single base substitution C T intron_variant MELA-AU 17 78596898 78596898 single base substitution T A intron_variant MELA-AU 17 78597427 78597427 single base substitution C T intron_variant MELA-AU 17 78598721 78598721 single base substitution C T intron_variant MELA-AU 17 78598810 78598810 single base substitution C T intron_variant MELA-AU 17 78599214 78599214 single base substitution C T intron_variant MELA-AU 17 78599232 78599232 single base substitution C T intron_variant MELA-AU 17 78599720 78599720 single base substitution C T intron_variant MELA-AU 17 78599882 78599882 single base substitution C T intron_variant MELA-AU 17 78600762 78600762 single base substitution C A intron_variant MELA-AU 17 78600765 78600765 single base substitution C T intron_variant MELA-AU 17 78601115 78601115 single base substitution C T intron_variant MELA-AU 17 78601869 78601869 single base substitution C T intron_variant MELA-AU 17 78602651 78602651 single base substitution C T intron_variant MELA-AU 17 78602727 78602727 single base substitution G A intron_variant MELA-AU 17 78602814 78602814 single base substitution C T intron_variant MELA-AU 17 78602878 78602878 single base substitution G A intron_variant MELA-AU 17 78603459 78603459 single base substitution C T intron_variant MELA-AU 17 78604350 78604350 single base substitution A C intron_variant MELA-AU 17 78604886 78604886 single base substitution C T intron_variant MELA-AU 17 78604955 78604955 single base substitution C T intron_variant MELA-AU 17 78605150 78605150 single base substitution T G intron_variant MELA-AU 17 78605188 78605188 single base substitution C T intron_variant MELA-AU 17 78605346 78605346 single base substitution G T intron_variant MELA-AU 17 78605701 78605701 single base substitution T A intron_variant MELA-AU 17 78605898 78605898 single base substitution G A intron_variant MELA-AU 17 78606003 78606003 single base substitution C G intron_variant MELA-AU 17 78606320 78606320 single base substitution C T intron_variant MELA-AU 17 78606534 78606534 single base substitution C T intron_variant MELA-AU 17 78607212 78607212 single base substitution C T intron_variant MELA-AU 17 78607327 78607327 single base substitution C T intron_variant MELA-AU 17 78607330 78607330 single base substitution C T intron_variant MELA-AU 17 78607579 78607579 single base substitution C T intron_variant MELA-AU 17 78607613 78607613 single base substitution G A intron_variant MELA-AU 17 78608098 78608098 single base substitution T C intron_variant MELA-AU 17 78608204 78608204 single base substitution G C intron_variant MELA-AU 17 78608382 78608382 single base substitution T C intron_variant MELA-AU 17 78608640 78608640 single base substitution A G intron_variant MELA-AU 17 78608989 78608989 single base substitution C T intron_variant MELA-AU 17 78609010 78609010 single base substitution C T intron_variant MELA-AU 17 78609111 78609111 single base substitution C T intron_variant MELA-AU 17 78609313 78609313 single base substitution C T intron_variant MELA-AU 17 78609936 78609936 single base substitution C T intron_variant MELA-AU 17 78609942 78609942 single base substitution C T intron_variant MELA-AU 17 78610881 78610881 single base substitution C T intron_variant MELA-AU 17 78611000 78611000 single base substitution C T intron_variant MELA-AU 17 78611201 78611201 single base substitution C T intron_variant MELA-AU 17 78611507 78611507 single base substitution G T intron_variant MELA-AU 17 78611869 78611869 single base substitution C T intron_variant MELA-AU 17 78612069 78612069 single base substitution C T intron_variant MELA-AU 17 78612078 78612078 single base substitution T C intron_variant MELA-AU 17 78612295 78612295 single base substitution G A intron_variant MELA-AU 17 78612602 78612602 single base substitution C T intron_variant MELA-AU 17 78613254 78613254 single base substitution C T intron_variant MELA-AU 17 78613914 78613914 single base substitution C T intron_variant MELA-AU 17 78614428 78614428 single base substitution C T intron_variant MELA-AU 17 78614604 78614604 single base substitution C T intron_variant MELA-AU 17 78615034 78615035 multiple base substitution (>=2bp and <=200bp) TT GA intron_variant MELA-AU 17 78615262 78615262 single base substitution T C intron_variant MELA-AU 17 78617136 78617136 single base substitution C T intron_variant MELA-AU 17 78617836 78617836 single base substitution C T intron_variant MELA-AU 17 78618383 78618383 single base substitution T A intron_variant MELA-AU 17 78618506 78618506 single base substitution T C intron_variant MELA-AU 17 78618862 78618862 single base substitution T G intron_variant MELA-AU 17 78619497 78619497 single base substitution C T intron_variant MELA-AU 17 78619699 78619699 single base substitution G A intron_variant MELA-AU 17 78619779 78619779 single base substitution C T intron_variant MELA-AU 17 78619821 78619821 single base substitution G A intron_variant MELA-AU 17 78619938 78619938 single base substitution T C intron_variant MELA-AU 17 78620085 78620085 single base substitution C T intron_variant MELA-AU 17 78620762 78620762 single base substitution G A intron_variant MELA-AU 17 78621096 78621096 single base substitution G A intron_variant MELA-AU 17 78621099 78621099 single base substitution A T intron_variant MELA-AU 17 78621333 78621333 single base substitution C T intron_variant MELA-AU 17 78621674 78621675 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 78622766 78622766 single base substitution G A intron_variant MELA-AU 17 78623606 78623606 single base substitution G A intron_variant MELA-AU 17 78623722 78623722 single base substitution G A intron_variant MELA-AU 17 78624021 78624021 single base substitution C T intron_variant MELA-AU 17 78624286 78624286 single base substitution C T intron_variant MELA-AU 17 78626116 78626116 single base substitution C T intron_variant MELA-AU 17 78626789 78626789 single base substitution G A intron_variant MELA-AU 17 78627747 78627747 single base substitution T A intron_variant MELA-AU 17 78628020 78628021 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78628165 78628165 single base substitution C T intron_variant MELA-AU 17 78628166 78628166 single base substitution C T intron_variant MELA-AU 17 78628892 78628892 single base substitution T G intron_variant MELA-AU 17 78628927 78628927 single base substitution C T intron_variant MELA-AU 17 78628953 78628953 single base substitution T C intron_variant MELA-AU 17 78628996 78628996 single base substitution C T intron_variant MELA-AU 17 78629005 78629005 single base substitution C T intron_variant MELA-AU 17 78629163 78629164 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 78629375 78629375 deletion of <=200bp A - intron_variant MELA-AU 17 78629376 78629376 single base substitution A T intron_variant MELA-AU 17 78631504 78631504 single base substitution G A intron_variant MELA-AU 17 78631564 78631564 single base substitution G A intron_variant MELA-AU 17 78632198 78632198 single base substitution T C intron_variant MELA-AU 17 78632218 78632218 single base substitution C T intron_variant MELA-AU 17 78632219 78632219 single base substitution C T intron_variant MELA-AU 17 78632530 78632530 single base substitution T A intron_variant MELA-AU 17 78632635 78632635 single base substitution C T intron_variant MELA-AU 17 78633543 78633543 single base substitution G A intron_variant MELA-AU 17 78635743 78635743 single base substitution C T intron_variant MELA-AU 17 78635756 78635756 single base substitution C T intron_variant MELA-AU 17 78636085 78636085 single base substitution C T intron_variant MELA-AU 17 78636461 78636461 single base substitution C G intron_variant MELA-AU 17 78636560 78636560 single base substitution T C intron_variant MELA-AU 17 78636673 78636673 single base substitution C T intron_variant MELA-AU 17 78636805 78636805 single base substitution C T intron_variant MELA-AU 17 78637028 78637028 single base substitution C T intron_variant MELA-AU 17 78637542 78637542 single base substitution C T intron_variant MELA-AU 17 78637555 78637555 single base substitution C T intron_variant MELA-AU 17 78638516 78638516 single base substitution T A intron_variant MELA-AU 17 78639030 78639030 single base substitution C T intron_variant MELA-AU 17 78639157 78639157 single base substitution C T intron_variant MELA-AU 17 78639426 78639426 single base substitution C T intron_variant MELA-AU 17 78640882 78640883 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78641266 78641266 single base substitution C T intron_variant MELA-AU 17 78641273 78641273 single base substitution T G intron_variant MELA-AU 17 78641660 78641660 single base substitution C T intron_variant MELA-AU 17 78641796 78641796 single base substitution C T intron_variant MELA-AU 17 78642267 78642267 single base substitution A C intron_variant MELA-AU 17 78642840 78642840 single base substitution C T intron_variant MELA-AU 17 78643615 78643615 single base substitution C T intron_variant MELA-AU 17 78644382 78644382 single base substitution C T intron_variant MELA-AU 17 78644478 78644478 single base substitution C T intron_variant MELA-AU 17 78644606 78644606 single base substitution C T intron_variant MELA-AU 17 78644729 78644729 single base substitution C T intron_variant MELA-AU 17 78646090 78646090 single base substitution C T intron_variant MELA-AU 17 78646139 78646139 single base substitution C T intron_variant MELA-AU 17 78649224 78649224 single base substitution C T intron_variant MELA-AU 17 78649262 78649262 single base substitution C T intron_variant MELA-AU 17 78649491 78649491 single base substitution C T intron_variant MELA-AU 17 78649603 78649603 single base substitution C T intron_variant MELA-AU 17 78650066 78650066 single base substitution G A intron_variant MELA-AU 17 78650472 78650472 single base substitution C T intron_variant MELA-AU 17 78651087 78651087 single base substitution C T intron_variant MELA-AU 17 78651289 78651289 single base substitution C T intron_variant MELA-AU 17 78651934 78651934 single base substitution C T intron_variant MELA-AU 17 78652577 78652577 single base substitution C T intron_variant MELA-AU 17 78653050 78653050 single base substitution C T intron_variant MELA-AU 17 78653265 78653265 single base substitution C T intron_variant MELA-AU 17 78653617 78653617 single base substitution C T intron_variant MELA-AU 17 78653680 78653680 single base substitution C T intron_variant MELA-AU 17 78653730 78653730 single base substitution G A intron_variant MELA-AU 17 78654088 78654088 single base substitution C T intron_variant MELA-AU 17 78654236 78654236 single base substitution C T intron_variant MELA-AU 17 78654990 78654990 single base substitution C T intron_variant MELA-AU 17 78655773 78655773 single base substitution A T intron_variant MELA-AU 17 78655834 78655834 single base substitution C T intron_variant MELA-AU 17 78657271 78657271 single base substitution C T intron_variant MELA-AU 17 78657536 78657536 single base substitution C T intron_variant MELA-AU 17 78658466 78658466 single base substitution C T intron_variant MELA-AU 17 78658562 78658562 single base substitution C T intron_variant MELA-AU 17 78658941 78658941 single base substitution C T intron_variant MELA-AU 17 78659220 78659220 single base substitution C A intron_variant MELA-AU 17 78659546 78659546 single base substitution C T intron_variant MELA-AU 17 78660180 78660180 single base substitution T A intron_variant MELA-AU 17 78660266 78660266 single base substitution T C intron_variant MELA-AU 17 78660483 78660483 single base substitution C T intron_variant MELA-AU 17 78661099 78661099 single base substitution C T intron_variant MELA-AU 17 78661836 78661836 single base substitution C T intron_variant MELA-AU 17 78661992 78661992 single base substitution G A intron_variant MELA-AU 17 78662671 78662671 single base substitution C T intron_variant MELA-AU 17 78662771 78662771 single base substitution C T intron_variant MELA-AU 17 78663125 78663125 single base substitution C T intron_variant MELA-AU 17 78663184 78663184 single base substitution C T intron_variant MELA-AU 17 78663194 78663194 single base substitution C T intron_variant MELA-AU 17 78664026 78664026 single base substitution C T intron_variant MELA-AU 17 78664103 78664103 single base substitution C T intron_variant MELA-AU 17 78664142 78664142 single base substitution T C intron_variant MELA-AU 17 78664598 78664598 single base substitution C T intron_variant MELA-AU 17 78664603 78664603 single base substitution C T intron_variant MELA-AU 17 78664897 78664897 single base substitution C T intron_variant MELA-AU 17 78664971 78664972 multiple base substitution (>=2bp and <=200bp) CA TC intron_variant MELA-AU 17 78665013 78665013 single base substitution C T intron_variant MELA-AU 17 78665158 78665158 single base substitution C T intron_variant MELA-AU 17 78666135 78666135 single base substitution T C intron_variant MELA-AU 17 78666163 78666163 single base substitution C T intron_variant MELA-AU 17 78666915 78666915 single base substitution T A intron_variant MELA-AU 17 78667525 78667525 single base substitution C T intron_variant MELA-AU 17 78668570 78668571 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78668786 78668787 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78669023 78669023 single base substitution G A intron_variant MELA-AU 17 78669058 78669058 single base substitution C T intron_variant MELA-AU 17 78669246 78669246 single base substitution C T intron_variant MELA-AU 17 78669517 78669517 single base substitution C T intron_variant MELA-AU 17 78670291 78670291 single base substitution C T intron_variant MELA-AU 17 78670728 78670728 single base substitution C T intron_variant MELA-AU 17 78670769 78670769 single base substitution C T intron_variant MELA-AU 17 78670962 78670962 single base substitution G A intron_variant MELA-AU 17 78671958 78671958 single base substitution G A intron_variant MELA-AU 17 78672107 78672107 single base substitution C T intron_variant MELA-AU 17 78672209 78672209 single base substitution C T intron_variant MELA-AU 17 78672364 78672364 single base substitution C T intron_variant MELA-AU 17 78672544 78672544 single base substitution C T intron_variant MELA-AU 17 78672560 78672560 single base substitution T C intron_variant MELA-AU 17 78672817 78672817 single base substitution C T intron_variant MELA-AU 17 78673264 78673264 single base substitution G A intron_variant MELA-AU 17 78673382 78673382 single base substitution C G intron_variant MELA-AU 17 78673679 78673679 single base substitution C T intron_variant MELA-AU 17 78674378 78674378 single base substitution T G intron_variant MELA-AU 17 78676001 78676001 single base substitution C T intron_variant MELA-AU 17 78676035 78676035 single base substitution T A intron_variant MELA-AU 17 78676264 78676264 single base substitution C T intron_variant MELA-AU 17 78676852 78676852 single base substitution C T intron_variant MELA-AU 17 78677143 78677143 single base substitution C T intron_variant MELA-AU 17 78677215 78677215 single base substitution C T intron_variant MELA-AU 17 78677496 78677496 single base substitution C T intron_variant MELA-AU 17 78679635 78679635 single base substitution G A intron_variant MELA-AU 17 78679635 78679635 single base substitution G A upstream_gene_variant MELA-AU 17 78679931 78679931 single base substitution C T intron_variant MELA-AU 17 78679931 78679931 single base substitution C T upstream_gene_variant MELA-AU 17 78680089 78680089 single base substitution G A intron_variant MELA-AU 17 78680089 78680089 single base substitution G A upstream_gene_variant MELA-AU 17 78680515 78680515 single base substitution C T intron_variant MELA-AU 17 78680515 78680515 single base substitution C T upstream_gene_variant MELA-AU 17 78680715 78680715 single base substitution C T intron_variant MELA-AU 17 78680715 78680715 single base substitution C T upstream_gene_variant MELA-AU 17 78681392 78681392 single base substitution C T intron_variant MELA-AU 17 78681392 78681392 single base substitution C T upstream_gene_variant MELA-AU 17 78681437 78681437 single base substitution C T intron_variant MELA-AU 17 78681437 78681437 single base substitution C T upstream_gene_variant MELA-AU 17 78682241 78682241 single base substitution C T intron_variant MELA-AU 17 78682241 78682241 single base substitution C T upstream_gene_variant MELA-AU 17 78683653 78683653 single base substitution C T intron_variant MELA-AU 17 78683899 78683899 single base substitution C T intron_variant MELA-AU 17 78684002 78684002 single base substitution C T intron_variant MELA-AU 17 78684344 78684344 single base substitution G C intron_variant MELA-AU 17 78685573 78685573 single base substitution C T intron_variant MELA-AU 17 78685689 78685691 multiple base substitution (>=2bp and <=200bp) GCC TAT intron_variant MELA-AU 17 78685763 78685763 single base substitution C G intron_variant MELA-AU 17 78686771 78686771 single base substitution G A intron_variant MELA-AU 17 78686931 78686931 single base substitution T C intron_variant MELA-AU 17 78687255 78687255 single base substitution C T intron_variant MELA-AU 17 78687275 78687275 single base substitution C T intron_variant MELA-AU 17 78687422 78687422 single base substitution G A intron_variant MELA-AU 17 78688176 78688176 single base substitution C T intron_variant MELA-AU 17 78689697 78689697 single base substitution C T intron_variant MELA-AU 17 78691614 78691614 single base substitution C T intron_variant MELA-AU 17 78691944 78691944 single base substitution C T intron_variant MELA-AU 17 78694689 78694689 single base substitution C T intron_variant MELA-AU 17 78697023 78697023 single base substitution C T intron_variant MELA-AU 17 78698805 78698805 single base substitution G C intron_variant MELA-AU 17 78699303 78699303 single base substitution C T intron_variant MELA-AU 17 78699613 78699613 single base substitution T C intron_variant MELA-AU 17 78700122 78700123 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78700886 78700886 single base substitution G A intron_variant MELA-AU 17 78700899 78700899 single base substitution C T intron_variant MELA-AU 17 78701917 78701917 single base substitution T A intron_variant MELA-AU 17 78702504 78702504 single base substitution C T intron_variant MELA-AU 17 78702666 78702666 single base substitution C T intron_variant MELA-AU 17 78703233 78703233 single base substitution C T intron_variant MELA-AU 17 78703235 78703235 single base substitution G T intron_variant MELA-AU 17 78703531 78703531 single base substitution C T intron_variant MELA-AU 17 78706003 78706003 single base substitution A G intron_variant MELA-AU 17 78706689 78706689 single base substitution A G intron_variant MELA-AU 17 78706957 78706958 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 78707037 78707037 single base substitution G A intron_variant MELA-AU 17 78707198 78707198 single base substitution A T intron_variant MELA-AU 17 78707445 78707445 single base substitution G A intron_variant MELA-AU 17 78707553 78707553 single base substitution G A intron_variant MELA-AU 17 78707951 78707951 single base substitution C T intron_variant MELA-AU 17 78708034 78708034 single base substitution G A intron_variant MELA-AU 17 78708110 78708110 single base substitution C T intron_variant MELA-AU 17 78708573 78708573 single base substitution C T intron_variant MELA-AU 17 78709076 78709076 single base substitution C T intron_variant MELA-AU 17 78709096 78709096 single base substitution C T intron_variant MELA-AU 17 78709445 78709445 single base substitution C T intron_variant MELA-AU 17 78710014 78710014 single base substitution C T intron_variant MELA-AU 17 78710159 78710159 single base substitution C T intron_variant MELA-AU 17 78710239 78710239 single base substitution C T intron_variant MELA-AU 17 78710870 78710870 single base substitution G A intron_variant MELA-AU 17 78710886 78710886 single base substitution C T intron_variant MELA-AU 17 78710929 78710929 single base substitution C T intron_variant MELA-AU 17 78710932 78710932 single base substitution T C intron_variant MELA-AU 17 78711717 78711717 single base substitution C T intron_variant MELA-AU 17 78711837 78711837 single base substitution C T intron_variant MELA-AU 17 78712167 78712167 single base substitution C T intron_variant MELA-AU 17 78712167 78712167 single base substitution C T upstream_gene_variant MELA-AU 17 78712214 78712214 single base substitution C T intron_variant MELA-AU 17 78712214 78712214 single base substitution C T upstream_gene_variant MELA-AU 17 78712218 78712218 single base substitution C T intron_variant MELA-AU 17 78712218 78712218 single base substitution C T upstream_gene_variant MELA-AU 17 78712411 78712411 single base substitution C T intron_variant MELA-AU 17 78712411 78712411 single base substitution C T upstream_gene_variant MELA-AU 17 78712895 78712895 single base substitution C T intron_variant MELA-AU 17 78712895 78712895 single base substitution C T upstream_gene_variant MELA-AU 17 78712989 78712989 single base substitution G A intron_variant MELA-AU 17 78712989 78712989 single base substitution G A upstream_gene_variant MELA-AU 17 78713747 78713747 single base substitution C T intron_variant MELA-AU 17 78713747 78713747 single base substitution C T upstream_gene_variant MELA-AU 17 78713749 78713749 single base substitution T A intron_variant MELA-AU 17 78713749 78713749 single base substitution T A upstream_gene_variant MELA-AU 17 78714602 78714603 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78714602 78714603 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 78714955 78714955 single base substitution C T intron_variant MELA-AU 17 78714955 78714955 single base substitution C T upstream_gene_variant MELA-AU 17 78715595 78715595 single base substitution C T intron_variant MELA-AU 17 78715595 78715595 single base substitution C T upstream_gene_variant MELA-AU 17 78716885 78716885 single base substitution G A intron_variant MELA-AU 17 78716885 78716885 single base substitution G A upstream_gene_variant MELA-AU 17 78718988 78718988 single base substitution C T intron_variant MELA-AU 17 78719722 78719722 single base substitution G C intron_variant MELA-AU 17 78719752 78719752 single base substitution G A intron_variant MELA-AU 17 78720152 78720152 single base substitution C T intron_variant MELA-AU 17 78720306 78720306 single base substitution C T intron_variant MELA-AU 17 78720400 78720400 single base substitution C T intron_variant MELA-AU 17 78720411 78720411 single base substitution C T intron_variant MELA-AU 17 78720775 78720775 single base substitution C T intron_variant MELA-AU 17 78720875 78720876 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 78720876 78720876 single base substitution G C intron_variant MELA-AU 17 78721127 78721127 single base substitution C T intron_variant MELA-AU 17 78723559 78723559 single base substitution C T intron_variant MELA-AU 17 78723623 78723623 single base substitution C T intron_variant MELA-AU 17 78724199 78724199 single base substitution G A intron_variant MELA-AU 17 78724442 78724442 single base substitution C T intron_variant MELA-AU 17 78725127 78725127 single base substitution C T intron_variant MELA-AU 17 78725380 78725380 single base substitution C T intron_variant MELA-AU 17 78725425 78725425 insertion of <=200bp - C intron_variant MELA-AU 17 78725487 78725487 single base substitution G A intron_variant MELA-AU 17 78725622 78725623 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 17 78725655 78725656 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78726019 78726019 single base substitution C T intron_variant MELA-AU 17 78726701 78726701 single base substitution G A intron_variant MELA-AU 17 78727078 78727078 single base substitution C T intron_variant MELA-AU 17 78727784 78727784 single base substitution C T intron_variant MELA-AU 17 78728302 78728302 single base substitution C A downstream_gene_variant MELA-AU 17 78728302 78728302 single base substitution C A intron_variant MELA-AU 17 78728519 78728519 single base substitution C T downstream_gene_variant MELA-AU 17 78728519 78728519 single base substitution C T intron_variant MELA-AU 17 78728644 78728644 single base substitution C A downstream_gene_variant MELA-AU 17 78728644 78728644 single base substitution C A intron_variant MELA-AU 17 78728644 78728644 single base substitution C T downstream_gene_variant MELA-AU 17 78728644 78728644 single base substitution C T intron_variant MELA-AU 17 78729202 78729202 single base substitution G A downstream_gene_variant MELA-AU 17 78729202 78729202 single base substitution G A intron_variant MELA-AU 17 78729496 78729496 single base substitution G T downstream_gene_variant MELA-AU 17 78729496 78729496 single base substitution G T intron_variant MELA-AU 17 78730037 78730037 single base substitution T C downstream_gene_variant MELA-AU 17 78730037 78730037 single base substitution T C intron_variant MELA-AU 17 78730270 78730270 single base substitution C T downstream_gene_variant MELA-AU 17 78730270 78730270 single base substitution C T intron_variant MELA-AU 17 78730586 78730586 single base substitution G A downstream_gene_variant MELA-AU 17 78730586 78730586 single base substitution G A intron_variant MELA-AU 17 78730743 78730743 single base substitution A T downstream_gene_variant MELA-AU 17 78730743 78730743 single base substitution A T intron_variant MELA-AU 17 78730882 78730882 single base substitution G T downstream_gene_variant MELA-AU 17 78730882 78730882 single base substitution G T intron_variant MELA-AU 17 78731017 78731017 single base substitution A G downstream_gene_variant MELA-AU 17 78731017 78731017 single base substitution A G intron_variant MELA-AU 17 78731143 78731143 single base substitution C T downstream_gene_variant MELA-AU 17 78731143 78731143 single base substitution C T intron_variant MELA-AU 17 78732179 78732179 single base substitution C T downstream_gene_variant MELA-AU 17 78732179 78732179 single base substitution C T intron_variant MELA-AU 17 78732837 78732837 single base substitution C T downstream_gene_variant MELA-AU 17 78732837 78732837 single base substitution C T intron_variant MELA-AU 17 78732860 78732860 single base substitution C T downstream_gene_variant MELA-AU 17 78732860 78732860 single base substitution C T intron_variant MELA-AU 17 78732903 78732903 single base substitution C T downstream_gene_variant MELA-AU 17 78732903 78732903 single base substitution C T intron_variant MELA-AU 17 78735459 78735459 single base substitution C T intron_variant MELA-AU 17 78735575 78735575 single base substitution C T intron_variant MELA-AU 17 78736062 78736062 single base substitution T C intron_variant MELA-AU 17 78736095 78736095 single base substitution C T intron_variant MELA-AU 17 78736797 78736797 single base substitution C T intron_variant MELA-AU 17 78736909 78736909 single base substitution G A intron_variant MELA-AU 17 78737015 78737015 single base substitution C T intron_variant MELA-AU 17 78738164 78738164 single base substitution A G intron_variant MELA-AU 17 78738895 78738895 single base substitution G A intron_variant MELA-AU 17 78739042 78739042 single base substitution C T intron_variant MELA-AU 17 78739102 78739102 single base substitution G A intron_variant MELA-AU 17 78739125 78739125 single base substitution G A intron_variant MELA-AU 17 78740131 78740131 single base substitution G A intron_variant MELA-AU 17 78741170 78741170 single base substitution C T intron_variant MELA-AU 17 78741229 78741229 single base substitution G A intron_variant MELA-AU 17 78741396 78741396 single base substitution G A intron_variant MELA-AU 17 78742700 78742700 single base substitution C A intron_variant MELA-AU 17 78742928 78742928 single base substitution C T intron_variant MELA-AU 17 78743077 78743077 single base substitution C T intron_variant MELA-AU 17 78743841 78743841 single base substitution T C intron_variant MELA-AU 17 78744040 78744041 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78744202 78744202 single base substitution C T intron_variant MELA-AU 17 78744234 78744234 single base substitution C T intron_variant MELA-AU 17 78744825 78744825 single base substitution C T intron_variant MELA-AU 17 78744860 78744860 single base substitution C T intron_variant MELA-AU 17 78745195 78745195 single base substitution C T intron_variant MELA-AU 17 78745306 78745306 single base substitution C T intron_variant MELA-AU 17 78745384 78745384 single base substitution C T intron_variant MELA-AU 17 78745792 78745792 single base substitution C T intron_variant MELA-AU 17 78745866 78745866 single base substitution C T intron_variant MELA-AU 17 78747480 78747480 deletion of <=200bp A - intron_variant MELA-AU 17 78748060 78748060 single base substitution C T intron_variant MELA-AU 17 78748265 78748265 single base substitution G A intron_variant MELA-AU 17 78748571 78748571 single base substitution C T intron_variant MELA-AU 17 78749598 78749598 single base substitution C T intron_variant MELA-AU 17 78750349 78750349 single base substitution C T intron_variant MELA-AU 17 78750667 78750667 single base substitution G A intron_variant MELA-AU 17 78751127 78751127 single base substitution C T intron_variant MELA-AU 17 78751156 78751156 single base substitution G A intron_variant MELA-AU 17 78751325 78751325 single base substitution T C intron_variant MELA-AU 17 78751632 78751632 single base substitution C A intron_variant MELA-AU 17 78752271 78752272 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78752523 78752523 single base substitution C T intron_variant MELA-AU 17 78752778 78752779 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 17 78753364 78753364 single base substitution C G intron_variant MELA-AU 17 78753974 78753974 single base substitution C T intron_variant MELA-AU 17 78754647 78754647 single base substitution C T intron_variant MELA-AU 17 78755442 78755442 single base substitution C T intron_variant MELA-AU 17 78755838 78755838 single base substitution C T intron_variant MELA-AU 17 78756700 78756700 single base substitution G A intron_variant MELA-AU 17 78757828 78757828 single base substitution G A intron_variant MELA-AU 17 78759455 78759455 single base substitution G A intron_variant MELA-AU 17 78760159 78760159 single base substitution G A intron_variant MELA-AU 17 78762306 78762306 single base substitution C T intron_variant MELA-AU 17 78763328 78763328 single base substitution A G intron_variant MELA-AU 17 78764306 78764306 single base substitution C T intron_variant MELA-AU 17 78764686 78764686 single base substitution G A intron_variant MELA-AU 17 78764892 78764892 single base substitution C T intron_variant MELA-AU 17 78768340 78768340 single base substitution C T intron_variant MELA-AU 17 78768421 78768421 single base substitution G T intron_variant MELA-AU 17 78768610 78768610 single base substitution G A intron_variant MELA-AU 17 78768811 78768811 single base substitution T C intron_variant MELA-AU 17 78769061 78769061 single base substitution A G intron_variant MELA-AU 17 78770516 78770516 single base substitution G A intron_variant MELA-AU 17 78770610 78770610 single base substitution C T intron_variant MELA-AU 17 78770996 78770996 single base substitution C T intron_variant MELA-AU 17 78771759 78771759 single base substitution C T intron_variant MELA-AU 17 78772247 78772247 single base substitution T G intron_variant MELA-AU 17 78772668 78772668 single base substitution C T intron_variant MELA-AU 17 78773083 78773084 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 78773153 78773153 single base substitution C T intron_variant MELA-AU 17 78773535 78773535 single base substitution G A intron_variant MELA-AU 17 78773594 78773594 single base substitution C T intron_variant MELA-AU 17 78774076 78774076 single base substitution G A intron_variant MELA-AU 17 78774083 78774083 single base substitution C T intron_variant MELA-AU 17 78774168 78774168 single base substitution G A intron_variant MELA-AU 17 78774582 78774582 single base substitution G A intron_variant MELA-AU 17 78774606 78774606 single base substitution C T intron_variant MELA-AU 17 78774667 78774667 single base substitution C A intron_variant MELA-AU 17 78775016 78775016 single base substitution G A intron_variant MELA-AU 17 78775050 78775050 single base substitution C T intron_variant MELA-AU 17 78775064 78775064 single base substitution T C intron_variant MELA-AU 17 78775270 78775270 single base substitution G A intron_variant MELA-AU 17 78775371 78775371 single base substitution C T intron_variant MELA-AU 17 78775699 78775699 single base substitution C T intron_variant MELA-AU 17 78775769 78775769 single base substitution C T intron_variant MELA-AU 17 78775968 78775968 single base substitution C T intron_variant MELA-AU 17 78776521 78776521 single base substitution C T intron_variant MELA-AU 17 78776817 78776818 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78777044 78777045 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78777381 78777381 single base substitution C A intron_variant MELA-AU 17 78777545 78777545 single base substitution C T intron_variant MELA-AU 17 78779736 78779736 single base substitution C T intron_variant MELA-AU 17 78779821 78779821 single base substitution C T intron_variant MELA-AU 17 78779888 78779888 single base substitution C T intron_variant MELA-AU 17 78779982 78779982 single base substitution G A intron_variant MELA-AU 17 78780212 78780212 single base substitution C T intron_variant MELA-AU 17 78780354 78780354 single base substitution G C intron_variant MELA-AU 17 78781116 78781116 single base substitution C T intron_variant MELA-AU 17 78781173 78781173 single base substitution G C intron_variant MELA-AU 17 78781916 78781916 single base substitution A C intron_variant MELA-AU 17 78782108 78782108 single base substitution C T intron_variant MELA-AU 17 78782632 78782632 single base substitution C T intron_variant MELA-AU 17 78782817 78782817 single base substitution G A intron_variant MELA-AU 17 78782921 78782921 single base substitution C T intron_variant MELA-AU 17 78782980 78782980 single base substitution C T intron_variant MELA-AU 17 78783139 78783139 single base substitution G A intron_variant MELA-AU 17 78783579 78783579 single base substitution C T intron_variant MELA-AU 17 78783634 78783634 single base substitution C T intron_variant MELA-AU 17 78783883 78783883 single base substitution A G intron_variant MELA-AU 17 78783907 78783907 single base substitution A G intron_variant MELA-AU 17 78784892 78784892 single base substitution T C intron_variant MELA-AU 17 78785109 78785109 single base substitution C T intron_variant MELA-AU 17 78785143 78785143 single base substitution C G intron_variant MELA-AU 17 78785214 78785214 single base substitution C T intron_variant MELA-AU 17 78785282 78785282 single base substitution C T intron_variant MELA-AU 17 78785402 78785402 single base substitution A C intron_variant MELA-AU 17 78785417 78785417 single base substitution C T intron_variant MELA-AU 17 78785472 78785472 single base substitution G C intron_variant MELA-AU 17 78785520 78785520 single base substitution G A intron_variant MELA-AU 17 78785832 78785832 single base substitution C T intron_variant MELA-AU 17 78786011 78786011 single base substitution C T intron_variant MELA-AU 17 78786305 78786305 single base substitution C T intron_variant MELA-AU 17 78786502 78786502 single base substitution C T intron_variant MELA-AU 17 78786586 78786586 single base substitution C G intron_variant MELA-AU 17 78786723 78786723 single base substitution C T intron_variant MELA-AU 17 78786724 78786724 single base substitution C T intron_variant MELA-AU 17 78787032 78787032 single base substitution T A intron_variant MELA-AU 17 78787183 78787183 single base substitution C T intron_variant MELA-AU 17 78787565 78787565 single base substitution C T intron_variant MELA-AU 17 78787725 78787725 single base substitution G A intron_variant MELA-AU 17 78788415 78788415 single base substitution G A intron_variant MELA-AU 17 78788802 78788802 single base substitution G A intron_variant MELA-AU 17 78789144 78789144 single base substitution G A intron_variant MELA-AU 17 78789689 78789689 single base substitution T C intron_variant MELA-AU 17 78789887 78789887 single base substitution C T intron_variant MELA-AU 17 78790096 78790096 single base substitution G A intron_variant MELA-AU 17 78790175 78790175 single base substitution C T intron_variant MELA-AU 17 78790176 78790176 single base substitution G A intron_variant MELA-AU 17 78790269 78790269 single base substitution C T intron_variant MELA-AU 17 78790549 78790549 single base substitution C T intron_variant MELA-AU 17 78790899 78790899 single base substitution C T intron_variant MELA-AU 17 78791206 78791207 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 17 78791515 78791515 single base substitution C T intron_variant MELA-AU 17 78791646 78791646 single base substitution C T intron_variant MELA-AU 17 78792329 78792329 single base substitution G A intron_variant MELA-AU 17 78792348 78792348 single base substitution G A intron_variant MELA-AU 17 78793128 78793128 single base substitution C T intron_variant MELA-AU 17 78793315 78793315 single base substitution G T intron_variant MELA-AU 17 78794884 78794884 single base substitution C T intron_variant MELA-AU 17 78795164 78795164 single base substitution G A intron_variant MELA-AU 17 78795240 78795240 single base substitution A G intron_variant MELA-AU 17 78795392 78795392 single base substitution C T intron_variant MELA-AU 17 78795469 78795470 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78795855 78795855 single base substitution C T intron_variant MELA-AU 17 78795871 78795871 single base substitution C T intron_variant MELA-AU 17 78796032 78796032 single base substitution C T 3_prime_UTR_variant MELA-AU 17 78796032 78796032 single base substitution C T exon_variant MELA-AU 17 78796032 78796032 single base substitution C T missense_variant P123S 367C>T MELA-AU 17 78796032 78796032 single base substitution C T missense_variant P308S 922C>T MELA-AU 17 78796117 78796117 single base substitution G A intron_variant MELA-AU 17 78796412 78796412 single base substitution G T intron_variant MELA-AU 17 78796930 78796930 single base substitution G A 3_prime_UTR_variant MELA-AU 17 78796930 78796930 single base substitution G A exon_variant MELA-AU 17 78796930 78796930 single base substitution G A missense_variant R163Q 488G>A MELA-AU 17 78796930 78796930 single base substitution G A missense_variant R348Q 1043G>A MELA-AU 17 78797092 78797092 single base substitution T C 3_prime_UTR_variant MELA-AU 17 78797092 78797092 single base substitution T C intron_variant MELA-AU 17 78797214 78797215 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 17 78797214 78797215 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 78797341 78797341 single base substitution A T 3_prime_UTR_variant MELA-AU 17 78797341 78797341 single base substitution A T intron_variant MELA-AU 17 78797685 78797685 single base substitution T A downstream_gene_variant MELA-AU 17 78797685 78797685 single base substitution T A intron_variant MELA-AU 17 78800328 78800328 single base substitution G A downstream_gene_variant MELA-AU 17 78800328 78800328 single base substitution G A intron_variant MELA-AU 17 78800398 78800399 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 78800398 78800399 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 78801975 78801975 single base substitution G A downstream_gene_variant MELA-AU 17 78801975 78801975 single base substitution G A intron_variant MELA-AU 17 78803907 78803907 single base substitution C T intron_variant MELA-AU 17 78803937 78803937 single base substitution C T intron_variant MELA-AU 17 78803964 78803964 single base substitution C T intron_variant MELA-AU 17 78804581 78804581 single base substitution C T intron_variant MELA-AU 17 78805192 78805192 single base substitution C T intron_variant MELA-AU 17 78805765 78805765 single base substitution C T intron_variant MELA-AU 17 78806271 78806271 single base substitution G A intron_variant MELA-AU 17 78806705 78806706 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78806973 78806973 single base substitution C T intron_variant MELA-AU 17 78807758 78807758 single base substitution C T intron_variant MELA-AU 17 78807782 78807782 single base substitution C T intron_variant MELA-AU 17 78808203 78808203 single base substitution C T intron_variant MELA-AU 17 78808346 78808346 single base substitution C T intron_variant MELA-AU 17 78809098 78809098 single base substitution C T intron_variant MELA-AU 17 78809158 78809158 single base substitution C T intron_variant MELA-AU 17 78809388 78809388 single base substitution C T intron_variant MELA-AU 17 78811316 78811316 single base substitution C T intron_variant MELA-AU 17 78811344 78811344 single base substitution T G intron_variant MELA-AU 17 78811434 78811434 single base substitution G A intron_variant MELA-AU 17 78811506 78811506 single base substitution C T intron_variant MELA-AU 17 78811571 78811571 single base substitution G A intron_variant MELA-AU 17 78812295 78812295 single base substitution C T intron_variant MELA-AU 17 78812403 78812403 single base substitution C T intron_variant MELA-AU 17 78813343 78813343 single base substitution C T intron_variant MELA-AU 17 78813346 78813346 single base substitution C T intron_variant MELA-AU 17 78813821 78813821 single base substitution C T intron_variant MELA-AU 17 78814153 78814153 single base substitution C T intron_variant MELA-AU 17 78816193 78816194 multiple base substitution (>=2bp and <=200bp) CC TG intron_variant MELA-AU 17 78816253 78816253 single base substitution C T intron_variant MELA-AU 17 78816586 78816586 single base substitution C T intron_variant MELA-AU 17 78817125 78817126 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 78817650 78817650 single base substitution C T intron_variant MELA-AU 17 78817820 78817820 single base substitution C T intron_variant MELA-AU 17 78817871 78817871 single base substitution C T intron_variant MELA-AU 17 78817992 78817992 single base substitution C T intron_variant MELA-AU 17 78818375 78818375 single base substitution C T intron_variant MELA-AU 17 78818736 78818736 single base substitution G A intron_variant MELA-AU 17 78818923 78818923 single base substitution C T intron_variant MELA-AU 17 78818981 78818981 single base substitution C T intron_variant MELA-AU 17 78819187 78819187 single base substitution C T intron_variant MELA-AU 17 78819477 78819477 single base substitution C T intron_variant MELA-AU 17 78819516 78819516 single base substitution C T intron_variant MELA-AU 17 78819604 78819604 single base substitution A G intron_variant MELA-AU 17 78819648 78819648 single base substitution C T intron_variant MELA-AU 17 78819652 78819652 single base substitution C T intron_variant MELA-AU 17 78819919 78819919 single base substitution C T intron_variant MELA-AU 17 78820092 78820092 single base substitution C T intron_variant MELA-AU 17 78820498 78820498 single base substitution C T intron_variant MELA-AU 17 78820943 78820944 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78821444 78821444 single base substitution C T intron_variant MELA-AU 17 78821471 78821471 single base substitution C T intron_variant MELA-AU 17 78821592 78821592 single base substitution C T intron_variant MELA-AU 17 78822573 78822573 single base substitution C T intron_variant MELA-AU 17 78822975 78822975 single base substitution C T intron_variant MELA-AU 17 78823058 78823058 single base substitution C G intron_variant MELA-AU 17 78823128 78823129 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78824001 78824001 single base substitution C T intron_variant MELA-AU 17 78824080 78824080 single base substitution C T intron_variant MELA-AU 17 78825385 78825385 single base substitution C T intron_variant MELA-AU 17 78825472 78825472 single base substitution C T intron_variant MELA-AU 17 78825631 78825631 single base substitution C T intron_variant MELA-AU 17 78825840 78825840 single base substitution C T intron_variant MELA-AU 17 78826137 78826137 single base substitution C T intron_variant MELA-AU 17 78826214 78826214 single base substitution G A intron_variant MELA-AU 17 78826253 78826253 single base substitution C T intron_variant MELA-AU 17 78826445 78826445 single base substitution C T intron_variant MELA-AU 17 78826566 78826566 single base substitution C T intron_variant MELA-AU 17 78826668 78826668 single base substitution C T intron_variant MELA-AU 17 78827187 78827188 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78827499 78827500 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 17 78827986 78827986 single base substitution A C intron_variant MELA-AU 17 78828108 78828108 single base substitution G A intron_variant MELA-AU 17 78828398 78828398 single base substitution C T intron_variant MELA-AU 17 78828557 78828557 single base substitution G A intron_variant MELA-AU 17 78833919 78833919 single base substitution C T downstream_gene_variant MELA-AU 17 78833919 78833919 single base substitution C T intron_variant MELA-AU 17 78834086 78834086 single base substitution C T downstream_gene_variant MELA-AU 17 78834086 78834086 single base substitution C T intron_variant MELA-AU 17 78834318 78834318 single base substitution C T downstream_gene_variant MELA-AU 17 78834318 78834318 single base substitution C T intron_variant MELA-AU 17 78834957 78834957 single base substitution C T downstream_gene_variant MELA-AU 17 78834957 78834957 single base substitution C T intron_variant MELA-AU 17 78835513 78835514 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 78835513 78835514 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78836435 78836435 single base substitution C T downstream_gene_variant MELA-AU 17 78836435 78836435 single base substitution C T intron_variant MELA-AU 17 78836757 78836757 single base substitution C T downstream_gene_variant MELA-AU 17 78836757 78836757 single base substitution C T intron_variant MELA-AU 17 78836800 78836800 single base substitution A G downstream_gene_variant MELA-AU 17 78836800 78836800 single base substitution A G intron_variant MELA-AU 17 78836807 78836807 single base substitution C T downstream_gene_variant MELA-AU 17 78836807 78836807 single base substitution C T intron_variant MELA-AU 17 78836814 78836814 single base substitution C T downstream_gene_variant MELA-AU 17 78836814 78836814 single base substitution C T intron_variant MELA-AU 17 78836952 78836953 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78837083 78837083 single base substitution C T intron_variant MELA-AU 17 78837112 78837112 single base substitution C T intron_variant MELA-AU 17 78837603 78837603 single base substitution C T intron_variant MELA-AU 17 78837807 78837808 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78838122 78838122 single base substitution G A intron_variant MELA-AU 17 78838150 78838150 single base substitution C T intron_variant MELA-AU 17 78838560 78838560 single base substitution T G intron_variant MELA-AU 17 78839183 78839183 single base substitution C T intron_variant MELA-AU 17 78839835 78839835 single base substitution C T intron_variant MELA-AU 17 78841330 78841330 single base substitution G A intron_variant MELA-AU 17 78842837 78842837 single base substitution C T intron_variant MELA-AU 17 78842942 78842942 single base substitution C T intron_variant MELA-AU 17 78842943 78842943 single base substitution C T intron_variant MELA-AU 17 78843154 78843154 single base substitution C T intron_variant MELA-AU 17 78843865 78843865 single base substitution A T intron_variant MELA-AU 17 78844442 78844442 single base substitution C T intron_variant MELA-AU 17 78844743 78844743 single base substitution C T intron_variant MELA-AU 17 78844826 78844826 single base substitution C T intron_variant MELA-AU 17 78844919 78844919 single base substitution C T intron_variant MELA-AU 17 78844940 78844940 single base substitution C T intron_variant MELA-AU 17 78845238 78845238 single base substitution C T intron_variant MELA-AU 17 78845533 78845533 single base substitution A G intron_variant MELA-AU 17 78845710 78845710 single base substitution G A intron_variant MELA-AU 17 78846513 78846513 single base substitution C T intron_variant MELA-AU 17 78848079 78848079 single base substitution C T intron_variant MELA-AU 17 78848691 78848691 single base substitution G A intron_variant MELA-AU 17 78848844 78848844 single base substitution C T intron_variant MELA-AU 17 78848981 78848981 single base substitution C T intron_variant MELA-AU 17 78849068 78849068 single base substitution C T intron_variant MELA-AU 17 78849214 78849214 single base substitution C T intron_variant MELA-AU 17 78849504 78849504 single base substitution C T intron_variant MELA-AU 17 78849517 78849517 single base substitution C T intron_variant MELA-AU 17 78849900 78849901 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 78850157 78850157 single base substitution C T intron_variant MELA-AU 17 78850604 78850604 single base substitution G A intron_variant MELA-AU 17 78850886 78850886 single base substitution C T intron_variant MELA-AU 17 78850913 78850913 single base substitution T A intron_variant MELA-AU 17 78850959 78850959 single base substitution C A intron_variant MELA-AU 17 78851261 78851261 single base substitution C T intron_variant MELA-AU 17 78852578 78852578 single base substitution G A intron_variant MELA-AU 17 78852727 78852728 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78852728 78852728 single base substitution C T intron_variant MELA-AU 17 78852778 78852778 single base substitution C T intron_variant MELA-AU 17 78853112 78853112 single base substitution C T intron_variant MELA-AU 17 78853430 78853430 single base substitution C T intron_variant MELA-AU 17 78853662 78853662 single base substitution C A intron_variant MELA-AU 17 78853999 78853999 single base substitution C T intron_variant MELA-AU 17 78854238 78854258 deletion of <=200bp GGACAACGGCCACAAGTACTT - disruptive_inframe_deletion KDNGHKYF511N MELA-AU 17 78854238 78854258 deletion of <=200bp GGACAACGGCCACAAGTACTT - exon_variant MELA-AU 17 78854238 78854258 deletion of <=200bp GGACAACGGCCACAAGTACTT - intron_variant MELA-AU 17 78854260 78854260 single base substitution C T exon_variant MELA-AU 17 78854260 78854260 single base substitution C T intron_variant MELA-AU 17 78854260 78854260 single base substitution C T synonymous_variant L519L 1555C>T MELA-AU 17 78854656 78854656 single base substitution C T intron_variant MELA-AU 17 78855480 78855480 single base substitution G A intron_variant MELA-AU 17 78855551 78855551 single base substitution A C intron_variant MELA-AU 17 78856070 78856070 single base substitution C T intron_variant MELA-AU 17 78856414 78856414 single base substitution C T intron_variant MELA-AU 17 78856606 78856606 single base substitution C T intron_variant MELA-AU 17 78856635 78856635 single base substitution C T intron_variant MELA-AU 17 78856732 78856732 single base substitution C T intron_variant MELA-AU 17 78856967 78856967 single base substitution C T intron_variant MELA-AU 17 78857081 78857081 single base substitution C T intron_variant MELA-AU 17 78857179 78857179 single base substitution C T intron_variant MELA-AU 17 78857797 78857797 single base substitution C T intron_variant MELA-AU 17 78857841 78857841 single base substitution C T intron_variant MELA-AU 17 78857859 78857859 single base substitution C T intron_variant MELA-AU 17 78858023 78858023 single base substitution G A intron_variant MELA-AU 17 78858104 78858104 single base substitution C T intron_variant MELA-AU 17 78858309 78858309 single base substitution C T intron_variant MELA-AU 17 78858355 78858355 single base substitution G A intron_variant MELA-AU 17 78858490 78858490 single base substitution C T intron_variant MELA-AU 17 78858536 78858536 single base substitution C T intron_variant MELA-AU 17 78858605 78858605 single base substitution C T intron_variant MELA-AU 17 78858640 78858640 single base substitution C T intron_variant MELA-AU 17 78858943 78858943 single base substitution C T exon_variant MELA-AU 17 78858943 78858943 single base substitution C T intron_variant MELA-AU 17 78858943 78858943 single base substitution C T missense_variant R660W 1978C>T MELA-AU 17 78858996 78858996 single base substitution C G intron_variant MELA-AU 17 78859231 78859231 single base substitution G A intron_variant MELA-AU 17 78859385 78859385 single base substitution C T intron_variant MELA-AU 17 78859413 78859413 single base substitution G A intron_variant MELA-AU 17 78859704 78859704 single base substitution C T intron_variant MELA-AU 17 78859778 78859778 single base substitution C T intron_variant MELA-AU 17 78859794 78859819 deletion of <=200bp GTGAGATGGAAGGCTGCTCTTGCAGA - intron_variant MELA-AU 17 78859964 78859964 single base substitution C T intron_variant MELA-AU 17 78860047 78860047 single base substitution C T intron_variant MELA-AU 17 78860093 78860093 single base substitution C T intron_variant MELA-AU 17 78860143 78860143 single base substitution C T intron_variant MELA-AU 17 78860721 78860721 single base substitution C T intron_variant MELA-AU 17 78861042 78861042 single base substitution C T intron_variant MELA-AU 17 78861492 78861492 single base substitution C T intron_variant MELA-AU 17 78861729 78861729 single base substitution C T intron_variant MELA-AU 17 78861861 78861862 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78861945 78861945 single base substitution G A intron_variant MELA-AU 17 78862080 78862080 single base substitution A G intron_variant MELA-AU 17 78862823 78862823 single base substitution C T intron_variant MELA-AU 17 78863496 78863497 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78863642 78863642 single base substitution C T intron_variant MELA-AU 17 78863732 78863732 single base substitution C T intron_variant MELA-AU 17 78863768 78863768 single base substitution C T intron_variant MELA-AU 17 78863894 78863894 single base substitution C T intron_variant MELA-AU 17 78864209 78864210 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 78865205 78865205 single base substitution T G intron_variant MELA-AU 17 78865704 78865704 single base substitution C T intron_variant MELA-AU 17 78865846 78865846 single base substitution C T intron_variant MELA-AU 17 78865851 78865851 single base substitution C T intron_variant MELA-AU 17 78866768 78866768 single base substitution C T intron_variant MELA-AU 17 78866931 78866931 single base substitution C T intron_variant MELA-AU 17 78867072 78867072 single base substitution G A intron_variant MELA-AU 17 78867612 78867612 single base substitution C T exon_variant MELA-AU 17 78867612 78867612 single base substitution C T missense_variant T625I 1874C>T MELA-AU 17 78867612 78867612 single base substitution C T missense_variant T783I 2348C>T MELA-AU 17 78867693 78867693 single base substitution C T intron_variant MELA-AU 17 78867715 78867715 single base substitution C T intron_variant MELA-AU 17 78868643 78868643 single base substitution C T intron_variant MELA-AU 17 78868710 78868710 single base substitution G A intron_variant MELA-AU 17 78869069 78869069 single base substitution C T intron_variant MELA-AU 17 78869535 78869535 single base substitution C T intron_variant MELA-AU 17 78869664 78869664 single base substitution C T intron_variant MELA-AU 17 78870088 78870088 single base substitution C T intron_variant MELA-AU 17 78870796 78870796 single base substitution C T intron_variant MELA-AU 17 78870872 78870872 single base substitution C T intron_variant MELA-AU 17 78871191 78871191 single base substitution C T intron_variant MELA-AU 17 78871224 78871224 single base substitution C T intron_variant MELA-AU 17 78871545 78871545 single base substitution C T intron_variant MELA-AU 17 78871548 78871548 single base substitution C T intron_variant MELA-AU 17 78871603 78871603 single base substitution G A intron_variant MELA-AU 17 78871726 78871726 single base substitution G A intron_variant MELA-AU 17 78871793 78871793 single base substitution C T intron_variant MELA-AU 17 78872833 78872834 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 78872993 78872993 single base substitution C T intron_variant MELA-AU 17 78873013 78873013 single base substitution C T intron_variant MELA-AU 17 78873253 78873253 single base substitution T C intron_variant MELA-AU 17 78874581 78874581 single base substitution G A intron_variant MELA-AU 17 78875888 78875888 single base substitution C T intron_variant MELA-AU 17 78876253 78876253 single base substitution G A intron_variant MELA-AU 17 78876612 78876613 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78876650 78876650 single base substitution C T intron_variant MELA-AU 17 78877127 78877127 single base substitution C T intron_variant MELA-AU 17 78877465 78877465 single base substitution C T intron_variant MELA-AU 17 78877762 78877762 single base substitution C T intron_variant MELA-AU 17 78878058 78878059 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78878133 78878133 single base substitution G A intron_variant MELA-AU 17 78878389 78878389 single base substitution C T intron_variant MELA-AU 17 78878506 78878506 single base substitution T A intron_variant MELA-AU 17 78878572 78878572 single base substitution C T intron_variant MELA-AU 17 78878739 78878739 single base substitution C T intron_variant MELA-AU 17 78878886 78878886 single base substitution C T intron_variant MELA-AU 17 78878929 78878929 single base substitution C T intron_variant MELA-AU 17 78879705 78879705 single base substitution G A intron_variant MELA-AU 17 78879765 78879765 single base substitution C T intron_variant MELA-AU 17 78879944 78879944 single base substitution C T intron_variant MELA-AU 17 78880040 78880040 single base substitution C T intron_variant MELA-AU 17 78880331 78880331 single base substitution C T intron_variant MELA-AU 17 78881245 78881245 single base substitution C T intron_variant MELA-AU 17 78881569 78881569 single base substitution A G intron_variant MELA-AU 17 78881633 78881633 single base substitution C T intron_variant MELA-AU 17 78881666 78881666 single base substitution C T intron_variant MELA-AU 17 78881884 78881885 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 17 78881980 78881980 single base substitution C T intron_variant MELA-AU 17 78882375 78882375 single base substitution C T intron_variant MELA-AU 17 78882817 78882817 single base substitution C T intron_variant MELA-AU 17 78883373 78883373 single base substitution C T exon_variant MELA-AU 17 78883373 78883373 single base substitution C T intron_variant MELA-AU 17 78884075 78884075 single base substitution C T downstream_gene_variant MELA-AU 17 78884075 78884075 single base substitution C T intron_variant MELA-AU 17 78884930 78884930 single base substitution C T downstream_gene_variant MELA-AU 17 78884930 78884930 single base substitution C T intron_variant MELA-AU 17 78885373 78885373 single base substitution C T downstream_gene_variant MELA-AU 17 78885373 78885373 single base substitution C T intron_variant MELA-AU 17 78885683 78885683 single base substitution G A downstream_gene_variant MELA-AU 17 78885683 78885683 single base substitution G A intron_variant MELA-AU 17 78885971 78885971 single base substitution T A downstream_gene_variant MELA-AU 17 78885971 78885971 single base substitution T A intron_variant MELA-AU 17 78886150 78886150 single base substitution C T downstream_gene_variant MELA-AU 17 78886150 78886150 single base substitution C T intron_variant MELA-AU 17 78886865 78886865 single base substitution A G downstream_gene_variant MELA-AU 17 78886865 78886865 single base substitution A G intron_variant MELA-AU 17 78887042 78887042 single base substitution C T downstream_gene_variant MELA-AU 17 78887042 78887042 single base substitution C T intron_variant MELA-AU 17 78887293 78887293 single base substitution C T downstream_gene_variant MELA-AU 17 78887293 78887293 single base substitution C T intron_variant MELA-AU 17 78887855 78887855 single base substitution C T downstream_gene_variant MELA-AU 17 78887855 78887855 single base substitution C T intron_variant MELA-AU 17 78887978 78887978 single base substitution G A downstream_gene_variant MELA-AU 17 78887978 78887978 single base substitution G A intron_variant MELA-AU 17 78888043 78888043 single base substitution C T downstream_gene_variant MELA-AU 17 78888043 78888043 single base substitution C T intron_variant MELA-AU 17 78888043 78888044 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 78888043 78888044 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78888643 78888643 single base substitution G A downstream_gene_variant MELA-AU 17 78888643 78888643 single base substitution G A intron_variant MELA-AU 17 78888950 78888950 single base substitution C T intron_variant MELA-AU 17 78889266 78889266 single base substitution C T intron_variant MELA-AU 17 78889298 78889298 single base substitution C T intron_variant MELA-AU 17 78889427 78889427 single base substitution C T intron_variant MELA-AU 17 78890683 78890683 single base substitution G A intron_variant MELA-AU 17 78891088 78891088 single base substitution T A intron_variant MELA-AU 17 78891515 78891515 single base substitution C T intron_variant MELA-AU 17 78891611 78891612 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78891611 78891612 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 78891652 78891652 single base substitution C G intron_variant MELA-AU 17 78891652 78891652 single base substitution C G upstream_gene_variant MELA-AU 17 78892365 78892365 single base substitution G A intron_variant MELA-AU 17 78892365 78892365 single base substitution G A upstream_gene_variant MELA-AU 17 78892514 78892514 single base substitution G A intron_variant MELA-AU 17 78892514 78892514 single base substitution G A upstream_gene_variant MELA-AU 17 78893146 78893146 single base substitution C T intron_variant MELA-AU 17 78893146 78893146 single base substitution C T upstream_gene_variant MELA-AU 17 78893696 78893696 single base substitution A T intron_variant MELA-AU 17 78893696 78893696 single base substitution A T upstream_gene_variant MELA-AU 17 78895131 78895131 single base substitution C T intron_variant MELA-AU 17 78895131 78895131 single base substitution C T upstream_gene_variant MELA-AU 17 78895359 78895359 single base substitution C T intron_variant MELA-AU 17 78895359 78895359 single base substitution C T upstream_gene_variant MELA-AU 17 78895728 78895728 single base substitution C T intron_variant MELA-AU 17 78895728 78895728 single base substitution C T upstream_gene_variant MELA-AU 17 78895764 78895764 single base substitution G A intron_variant MELA-AU 17 78895764 78895764 single base substitution G A upstream_gene_variant MELA-AU 17 78896069 78896069 single base substitution C T intron_variant MELA-AU 17 78896069 78896069 single base substitution C T upstream_gene_variant MELA-AU 17 78896187 78896187 single base substitution G A intron_variant MELA-AU 17 78896187 78896187 single base substitution G A upstream_gene_variant MELA-AU 17 78896415 78896415 single base substitution G A intron_variant MELA-AU 17 78896415 78896415 single base substitution G A upstream_gene_variant MELA-AU 17 78896460 78896460 single base substitution C T intron_variant MELA-AU 17 78896460 78896460 single base substitution C T upstream_gene_variant MELA-AU 17 78896474 78896482 deletion of <=200bp CGCGGAGCA - intron_variant MELA-AU 17 78896474 78896482 deletion of <=200bp CGCGGAGCA - upstream_gene_variant MELA-AU 17 78896518 78896518 single base substitution C T splice_region_variant MELA-AU 17 78896518 78896518 single base substitution C T upstream_gene_variant MELA-AU 17 78896708 78896709 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78896724 78896724 single base substitution C T intron_variant MELA-AU 17 78896781 78896781 single base substitution C T intron_variant MELA-AU 17 78896985 78896985 single base substitution G C intron_variant MELA-AU 17 78897079 78897079 single base substitution C T intron_variant MELA-AU 17 78897844 78897844 single base substitution G A intron_variant MELA-AU 17 78897844 78897844 single base substitution G A missense_variant S220N 659G>A MELA-AU 17 78898055 78898055 single base substitution C T downstream_gene_variant MELA-AU 17 78898055 78898055 single base substitution C T intron_variant MELA-AU 17 78898138 78898138 single base substitution C T downstream_gene_variant MELA-AU 17 78898138 78898138 single base substitution C T intron_variant MELA-AU 17 78898253 78898253 single base substitution G A downstream_gene_variant MELA-AU 17 78898253 78898253 single base substitution G A intron_variant MELA-AU 17 78898467 78898468 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 78898467 78898468 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 78898690 78898690 single base substitution C T downstream_gene_variant MELA-AU 17 78898690 78898690 single base substitution C T intron_variant MELA-AU 17 78899554 78899554 single base substitution C T downstream_gene_variant MELA-AU 17 78899554 78899554 single base substitution C T intron_variant MELA-AU 17 78900564 78900564 single base substitution G A downstream_gene_variant MELA-AU 17 78900564 78900564 single base substitution G A intron_variant MELA-AU 17 78900698 78900698 single base substitution A C downstream_gene_variant MELA-AU 17 78900698 78900698 single base substitution A C intron_variant MELA-AU 17 78900853 78900853 single base substitution C T downstream_gene_variant MELA-AU 17 78900853 78900853 single base substitution C T intron_variant MELA-AU 17 78901192 78901192 single base substitution C T downstream_gene_variant MELA-AU 17 78901192 78901192 single base substitution C T intron_variant MELA-AU 17 78901316 78901316 single base substitution A G downstream_gene_variant MELA-AU 17 78901316 78901316 single base substitution A G intron_variant MELA-AU 17 78901541 78901542 multiple base substitution (>=2bp and <=200bp) TG CC downstream_gene_variant MELA-AU 17 78901541 78901542 multiple base substitution (>=2bp and <=200bp) TG CC intron_variant MELA-AU 17 78901593 78901593 single base substitution C T downstream_gene_variant MELA-AU 17 78901593 78901593 single base substitution C T intron_variant MELA-AU 17 78902583 78902583 single base substitution T C downstream_gene_variant MELA-AU 17 78902583 78902583 single base substitution T C intron_variant MELA-AU 17 78902629 78902629 single base substitution G A downstream_gene_variant MELA-AU 17 78902629 78902629 single base substitution G A intron_variant MELA-AU 17 78902849 78902849 single base substitution G A downstream_gene_variant MELA-AU 17 78902849 78902849 single base substitution G A intron_variant MELA-AU 17 78902897 78902897 single base substitution A T downstream_gene_variant MELA-AU 17 78902897 78902897 single base substitution A T intron_variant MELA-AU 17 78903172 78903173 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 78903759 78903759 single base substitution C T intron_variant MELA-AU 17 78903860 78903860 single base substitution C T intron_variant MELA-AU 17 78904456 78904456 single base substitution C T intron_variant MELA-AU 17 78904899 78904899 single base substitution C T intron_variant MELA-AU 17 78905118 78905118 single base substitution G A intron_variant MELA-AU 17 78906006 78906006 single base substitution C T intron_variant MELA-AU 17 78906149 78906149 single base substitution G A intron_variant MELA-AU 17 78906387 78906387 single base substitution C T intron_variant MELA-AU 17 78906582 78906582 single base substitution C T intron_variant MELA-AU 17 78906700 78906700 single base substitution C T intron_variant MELA-AU 17 78907040 78907041 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78907374 78907374 single base substitution C T intron_variant MELA-AU 17 78907830 78907830 single base substitution C T intron_variant MELA-AU 17 78907867 78907867 single base substitution C T intron_variant MELA-AU 17 78907977 78907977 single base substitution G A intron_variant MELA-AU 17 78908345 78908345 single base substitution G A intron_variant MELA-AU 17 78908681 78908681 single base substitution C T intron_variant MELA-AU 17 78909939 78909939 single base substitution T C intron_variant MELA-AU 17 78910535 78910535 single base substitution C T intron_variant MELA-AU 17 78910838 78910838 single base substitution T C intron_variant MELA-AU 17 78910898 78910898 single base substitution G A intron_variant MELA-AU 17 78911024 78911024 single base substitution C T intron_variant MELA-AU 17 78911026 78911026 single base substitution C T intron_variant MELA-AU 17 78911272 78911272 single base substitution G A intron_variant MELA-AU 17 78911586 78911586 single base substitution C T intron_variant MELA-AU 17 78911594 78911594 single base substitution C T intron_variant MELA-AU 17 78911760 78911760 single base substitution C T intron_variant MELA-AU 17 78911939 78911939 single base substitution C T intron_variant MELA-AU 17 78912128 78912128 single base substitution G A intron_variant MELA-AU 17 78912161 78912162 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78912754 78912754 single base substitution C T intron_variant MELA-AU 17 78912858 78912858 single base substitution C T intron_variant MELA-AU 17 78913232 78913232 single base substitution C T intron_variant MELA-AU 17 78913234 78913235 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 78913769 78913769 single base substitution G A intron_variant MELA-AU 17 78914057 78914057 single base substitution G A intron_variant MELA-AU 17 78914092 78914092 single base substitution C T intron_variant MELA-AU 17 78914513 78914513 single base substitution C T intron_variant MELA-AU 17 78914513 78914513 single base substitution C T upstream_gene_variant MELA-AU 17 78914805 78914805 single base substitution C T intron_variant MELA-AU 17 78914805 78914805 single base substitution C T upstream_gene_variant MELA-AU 17 78915165 78915165 single base substitution G A intron_variant MELA-AU 17 78915165 78915165 single base substitution G A upstream_gene_variant MELA-AU 17 78915277 78915277 single base substitution C T intron_variant MELA-AU 17 78915277 78915277 single base substitution C T upstream_gene_variant MELA-AU 17 78916718 78916718 single base substitution G A intron_variant MELA-AU 17 78916718 78916718 single base substitution G A upstream_gene_variant MELA-AU 17 78916842 78916842 single base substitution C T intron_variant MELA-AU 17 78916842 78916842 single base substitution C T upstream_gene_variant MELA-AU 17 78917310 78917310 single base substitution C T intron_variant MELA-AU 17 78917310 78917310 single base substitution C T upstream_gene_variant MELA-AU 17 78917349 78917349 single base substitution G A intron_variant MELA-AU 17 78917349 78917349 single base substitution G A upstream_gene_variant MELA-AU 17 78917645 78917646 deletion of <=200bp TC - intron_variant MELA-AU 17 78917645 78917646 deletion of <=200bp TC - upstream_gene_variant MELA-AU 17 78917745 78917745 single base substitution C T intron_variant MELA-AU 17 78917745 78917745 single base substitution C T upstream_gene_variant MELA-AU 17 78917817 78917817 single base substitution C T intron_variant MELA-AU 17 78917817 78917817 single base substitution C T upstream_gene_variant MELA-AU 17 78918622 78918622 single base substitution C T intron_variant MELA-AU 17 78918622 78918622 single base substitution C T upstream_gene_variant MELA-AU 17 78918873 78918873 single base substitution C T intron_variant MELA-AU 17 78918873 78918873 single base substitution C T upstream_gene_variant MELA-AU 17 78919313 78919313 single base substitution A G intron_variant MELA-AU 17 78919313 78919313 single base substitution A G upstream_gene_variant MELA-AU 17 78919492 78919492 single base substitution A G exon_variant MELA-AU 17 78919492 78919492 single base substitution A G missense_variant I1017M 3051A>G MELA-AU 17 78919492 78919492 single base substitution A G missense_variant I859M 2577A>G MELA-AU 17 78919492 78919492 single base substitution A G upstream_gene_variant MELA-AU 17 78919510 78919510 single base substitution C T exon_variant MELA-AU 17 78919510 78919510 single base substitution C T synonymous_variant P1023P 3069C>T MELA-AU 17 78919510 78919510 single base substitution C T synonymous_variant P865P 2595C>T MELA-AU 17 78919510 78919510 single base substitution C T upstream_gene_variant MELA-AU 17 78919668 78919668 single base substitution C T intron_variant MELA-AU 17 78919668 78919668 single base substitution C T upstream_gene_variant MELA-AU 17 78920696 78920696 single base substitution C T intron_variant MELA-AU 17 78920696 78920696 single base substitution C T upstream_gene_variant MELA-AU 17 78920782 78920782 single base substitution C T intron_variant MELA-AU 17 78920782 78920782 single base substitution C T upstream_gene_variant MELA-AU 17 78921354 78921354 single base substitution C T intron_variant MELA-AU 17 78921354 78921354 single base substitution C T upstream_gene_variant MELA-AU 17 78921667 78921667 single base substitution C T intron_variant MELA-AU 17 78921667 78921667 single base substitution C T upstream_gene_variant MELA-AU 17 78922009 78922009 single base substitution C T intron_variant MELA-AU 17 78922009 78922009 single base substitution C T upstream_gene_variant MELA-AU 17 78922098 78922098 single base substitution C G intron_variant MELA-AU 17 78922098 78922098 single base substitution C G upstream_gene_variant MELA-AU 17 78922121 78922121 single base substitution C T intron_variant MELA-AU 17 78922121 78922121 single base substitution C T upstream_gene_variant MELA-AU 17 78922181 78922181 single base substitution C T intron_variant MELA-AU 17 78922181 78922181 single base substitution C T upstream_gene_variant MELA-AU 17 78922296 78922296 single base substitution C T intron_variant MELA-AU 17 78922296 78922296 single base substitution C T upstream_gene_variant MELA-AU 17 78922799 78922799 single base substitution C T intron_variant MELA-AU 17 78923237 78923238 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78923237 78923238 multiple base substitution (>=2bp and <=200bp) CC TT splice_region_variant MELA-AU 17 78923365 78923365 single base substitution C T downstream_gene_variant MELA-AU 17 78923365 78923365 single base substitution C T intron_variant MELA-AU 17 78923413 78923413 single base substitution C T downstream_gene_variant MELA-AU 17 78923413 78923413 single base substitution C T intron_variant MELA-AU 17 78923420 78923420 single base substitution C T downstream_gene_variant MELA-AU 17 78923420 78923420 single base substitution C T intron_variant MELA-AU 17 78923471 78923471 single base substitution C T downstream_gene_variant MELA-AU 17 78923471 78923471 single base substitution C T intron_variant MELA-AU 17 78923512 78923512 single base substitution G A downstream_gene_variant MELA-AU 17 78923512 78923512 single base substitution G A intron_variant MELA-AU 17 78923523 78923523 single base substitution C T downstream_gene_variant MELA-AU 17 78923523 78923523 single base substitution C T intron_variant MELA-AU 17 78924371 78924371 single base substitution C T downstream_gene_variant MELA-AU 17 78924371 78924371 single base substitution C T intron_variant MELA-AU 17 78924381 78924381 single base substitution C T downstream_gene_variant MELA-AU 17 78924381 78924381 single base substitution C T intron_variant MELA-AU 17 78924841 78924841 single base substitution C T downstream_gene_variant MELA-AU 17 78924841 78924841 single base substitution C T intron_variant MELA-AU 17 78924872 78924872 single base substitution C T downstream_gene_variant MELA-AU 17 78924872 78924872 single base substitution C T intron_variant MELA-AU 17 78924903 78924903 single base substitution C T downstream_gene_variant MELA-AU 17 78924903 78924903 single base substitution C T intron_variant MELA-AU 17 78925045 78925045 single base substitution G A downstream_gene_variant MELA-AU 17 78925045 78925045 single base substitution G A intron_variant MELA-AU 17 78925105 78925105 single base substitution C T downstream_gene_variant MELA-AU 17 78925105 78925105 single base substitution C T intron_variant MELA-AU 17 78925246 78925246 single base substitution G A downstream_gene_variant MELA-AU 17 78925246 78925246 single base substitution G A intron_variant MELA-AU 17 78926450 78926450 single base substitution C T downstream_gene_variant MELA-AU 17 78926450 78926450 single base substitution C T intron_variant MELA-AU 17 78926461 78926461 single base substitution C T downstream_gene_variant MELA-AU 17 78926461 78926461 single base substitution C T intron_variant MELA-AU 17 78926530 78926530 single base substitution C T downstream_gene_variant MELA-AU 17 78926530 78926530 single base substitution C T intron_variant MELA-AU 17 78926693 78926693 single base substitution C T downstream_gene_variant MELA-AU 17 78926693 78926693 single base substitution C T intron_variant MELA-AU 17 78926706 78926707 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 78926706 78926707 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 78926910 78926910 single base substitution C T downstream_gene_variant MELA-AU 17 78926910 78926910 single base substitution C T intron_variant MELA-AU 17 78927519 78927519 single base substitution C T downstream_gene_variant MELA-AU 17 78927519 78927519 single base substitution C T intron_variant MELA-AU 17 78928360 78928360 single base substitution C T intron_variant MELA-AU 17 78929254 78929254 single base substitution C T intron_variant MELA-AU 17 78929283 78929283 single base substitution C T intron_variant MELA-AU 17 78929588 78929588 single base substitution C T intron_variant MELA-AU 17 78930105 78930105 single base substitution C T intron_variant MELA-AU 17 78930106 78930106 single base substitution C T intron_variant MELA-AU 17 78930591 78930591 single base substitution T C intron_variant MELA-AU 17 78931198 78931198 single base substitution C T intron_variant MELA-AU 17 78931364 78931364 single base substitution C T intron_variant MELA-AU 17 78931491 78931491 single base substitution C T exon_variant MELA-AU 17 78931491 78931491 single base substitution C T synonymous_variant I1146I 3438C>T MELA-AU 17 78931491 78931491 single base substitution C T synonymous_variant I988I 2964C>T MELA-AU 17 78931619 78931619 single base substitution G A intron_variant MELA-AU 17 78931758 78931758 single base substitution A C intron_variant MELA-AU 17 78931765 78931766 multiple base substitution (>=2bp and <=200bp) GC TT intron_variant MELA-AU 17 78932107 78932107 single base substitution G C intron_variant MELA-AU 17 78932415 78932415 single base substitution G C intron_variant MELA-AU 17 78932688 78932688 single base substitution G A intron_variant MELA-AU 17 78932740 78932740 single base substitution C T intron_variant MELA-AU 17 78932793 78932793 single base substitution C T intron_variant MELA-AU 17 78933314 78933314 single base substitution C T intron_variant MELA-AU 17 78934680 78934680 single base substitution C T intron_variant MELA-AU 17 78934922 78934922 single base substitution C T intron_variant MELA-AU 17 78935061 78935061 single base substitution C T intron_variant MELA-AU 17 78935511 78935511 single base substitution C T downstream_gene_variant MELA-AU 17 78935511 78935511 single base substitution C T intron_variant MELA-AU 17 78935972 78935972 single base substitution C T downstream_gene_variant MELA-AU 17 78935972 78935972 single base substitution C T intron_variant MELA-AU 17 78936141 78936141 single base substitution C T downstream_gene_variant MELA-AU 17 78936141 78936141 single base substitution C T intron_variant MELA-AU 17 78936626 78936626 single base substitution C T downstream_gene_variant MELA-AU 17 78936626 78936626 single base substitution C T intron_variant MELA-AU 17 78936664 78936664 single base substitution C T downstream_gene_variant MELA-AU 17 78936664 78936664 single base substitution C T intron_variant MELA-AU 17 78936681 78936681 single base substitution C T downstream_gene_variant MELA-AU 17 78936681 78936681 single base substitution C T intron_variant MELA-AU 17 78937134 78937134 single base substitution C T downstream_gene_variant MELA-AU 17 78937134 78937134 single base substitution C T intron_variant MELA-AU 17 78937590 78937590 single base substitution C T downstream_gene_variant MELA-AU 17 78937590 78937590 single base substitution C T intron_variant MELA-AU 17 78937642 78937642 single base substitution C T downstream_gene_variant MELA-AU 17 78937642 78937642 single base substitution C T intron_variant MELA-AU 17 78938073 78938073 single base substitution C T downstream_gene_variant MELA-AU 17 78938073 78938073 single base substitution C T exon_variant MELA-AU 17 78938073 78938073 single base substitution C T synonymous_variant A1159A 3477C>T MELA-AU 17 78938073 78938073 single base substitution C T synonymous_variant A1317A 3951C>T MELA-AU 17 78938099 78938099 single base substitution C T downstream_gene_variant MELA-AU 17 78938099 78938099 single base substitution C T exon_variant MELA-AU 17 78938099 78938099 single base substitution C T missense_variant S1168F 3503C>T MELA-AU 17 78938099 78938099 single base substitution C T missense_variant S1326F 3977C>T MELA-AU 17 78938192 78938192 single base substitution C T 3_prime_UTR_variant MELA-AU 17 78938192 78938192 single base substitution C T downstream_gene_variant MELA-AU 17 78938192 78938192 single base substitution C T exon_variant MELA-AU 17 78938398 78938398 single base substitution C T 3_prime_UTR_variant MELA-AU 17 78938398 78938398 single base substitution C T downstream_gene_variant MELA-AU 17 78938398 78938398 single base substitution C T exon_variant MELA-AU 17 78938462 78938462 single base substitution C T 3_prime_UTR_variant MELA-AU 17 78938462 78938462 single base substitution C T downstream_gene_variant MELA-AU 17 78938462 78938462 single base substitution C T exon_variant MELA-AU 17 78938548 78938548 single base substitution G A 3_prime_UTR_variant MELA-AU 17 78938548 78938548 single base substitution G A downstream_gene_variant MELA-AU 17 78938548 78938548 single base substitution G A exon_variant MELA-AU 17 78938644 78938644 single base substitution C T 3_prime_UTR_variant MELA-AU 17 78938644 78938644 single base substitution C T downstream_gene_variant MELA-AU 17 78938644 78938644 single base substitution C T exon_variant MELA-AU 17 78938672 78938672 single base substitution C T 3_prime_UTR_variant MELA-AU 17 78938672 78938672 single base substitution C T downstream_gene_variant MELA-AU 17 78938672 78938672 single base substitution C T exon_variant MELA-AU 17 78938743 78938743 single base substitution C T 3_prime_UTR_variant MELA-AU 17 78938743 78938743 single base substitution C T downstream_gene_variant MELA-AU 17 78938743 78938743 single base substitution C T exon_variant MELA-AU 17 78938914 78938914 single base substitution C T 3_prime_UTR_variant MELA-AU 17 78938914 78938914 single base substitution C T downstream_gene_variant MELA-AU 17 78938914 78938914 single base substitution C T exon_variant MELA-AU 17 78939089 78939089 single base substitution C T 3_prime_UTR_variant MELA-AU 17 78939089 78939089 single base substitution C T downstream_gene_variant MELA-AU 17 78939089 78939089 single base substitution C T exon_variant MELA-AU 17 78940312 78940312 single base substitution G A downstream_gene_variant MELA-AU 17 78940319 78940319 single base substitution C T downstream_gene_variant MELA-AU 17 78940617 78940617 single base substitution T A downstream_gene_variant MELA-AU 17 78941264 78941264 single base substitution C T downstream_gene_variant MELA-AU 17 78941517 78941517 single base substitution C T downstream_gene_variant MELA-AU 17 78941711 78941711 single base substitution G A downstream_gene_variant MELA-AU 17 78942991 78942991 single base substitution G A downstream_gene_variant MELA-AU 17 78943008 78943008 single base substitution G A downstream_gene_variant MELA-AU 17 78943158 78943159 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 78943315 78943315 single base substitution C T downstream_gene_variant MELA-AU 17 78943343 78943343 single base substitution C T downstream_gene_variant MELA-AU 17 78943793 78943793 insertion of <=200bp - A downstream_gene_variant MELA-AU 17 78943936 78943936 single base substitution C T downstream_gene_variant MELA-AU 17 78944064 78944064 single base substitution C T downstream_gene_variant MELA-AU 17 78944278 78944278 single base substitution C T downstream_gene_variant MELA-AU 17 78944663 78944663 single base substitution G A downstream_gene_variant MELA-AU 17 78944929 78944929 single base substitution G A downstream_gene_variant MELA-AU 17 78945061 78945061 single base substitution C T downstream_gene_variant MELA-AU 17 78945141 78945141 single base substitution C T downstream_gene_variant MELA-AU 17 78945147 78945147 single base substitution C T downstream_gene_variant ORCA-IN 17 78524927 78524927 single base substitution G A intron_variant ORCA-IN 17 78543297 78543297 single base substitution C A intron_variant ORCA-IN 17 78554019 78554019 single base substitution T C intron_variant ORCA-IN 17 78555230 78555230 single base substitution C G intron_variant ORCA-IN 17 78587690 78587690 single base substitution C A intron_variant ORCA-IN 17 78597574 78597574 single base substitution G A intron_variant ORCA-IN 17 78618996 78618996 single base substitution G A intron_variant ORCA-IN 17 78622711 78622711 single base substitution C T intron_variant ORCA-IN 17 78627779 78627779 single base substitution C T intron_variant ORCA-IN 17 78629728 78629728 single base substitution C T intron_variant ORCA-IN 17 78646392 78646392 single base substitution C T intron_variant ORCA-IN 17 78659644 78659644 single base substitution G A intron_variant ORCA-IN 17 78674852 78674852 single base substitution A G intron_variant ORCA-IN 17 78696043 78696043 single base substitution C T intron_variant ORCA-IN 17 78701711 78701711 single base substitution C A intron_variant ORCA-IN 17 78702273 78702273 single base substitution A G intron_variant ORCA-IN 17 78717537 78717537 single base substitution C T intron_variant ORCA-IN 17 78720657 78720657 single base substitution G A intron_variant ORCA-IN 17 78720821 78720821 single base substitution C A intron_variant ORCA-IN 17 78735075 78735075 single base substitution T G intron_variant ORCA-IN 17 78743519 78743519 single base substitution G C intron_variant ORCA-IN 17 78781945 78781945 single base substitution T G intron_variant ORCA-IN 17 78792680 78792680 single base substitution C A intron_variant ORCA-IN 17 78793486 78793486 single base substitution G A intron_variant ORCA-IN 17 78797445 78797445 single base substitution A T downstream_gene_variant ORCA-IN 17 78797445 78797445 single base substitution A T intron_variant ORCA-IN 17 78797451 78797451 single base substitution A T downstream_gene_variant ORCA-IN 17 78797451 78797451 single base substitution A T intron_variant ORCA-IN 17 78809693 78809693 single base substitution G C intron_variant ORCA-IN 17 78812372 78812372 single base substitution T G intron_variant ORCA-IN 17 78814328 78814328 single base substitution A T intron_variant ORCA-IN 17 78816972 78816972 single base substitution G A intron_variant ORCA-IN 17 78850746 78850746 single base substitution T G intron_variant ORCA-IN 17 78866555 78866555 single base substitution G A exon_variant ORCA-IN 17 78866555 78866555 single base substitution G A missense_variant D552N 1654G>A ORCA-IN 17 78866555 78866555 single base substitution G A missense_variant D710N 2128G>A ORCA-IN 17 78886858 78886858 single base substitution G A downstream_gene_variant ORCA-IN 17 78886858 78886858 single base substitution G A intron_variant ORCA-IN 17 78887319 78887319 single base substitution C T downstream_gene_variant ORCA-IN 17 78887319 78887319 single base substitution C T intron_variant ORCA-IN 17 78887443 78887443 single base substitution G A downstream_gene_variant ORCA-IN 17 78887443 78887443 single base substitution G A intron_variant ORCA-IN 17 78905515 78905515 single base substitution G A intron_variant ORCA-IN 17 78917288 78917288 single base substitution C A intron_variant ORCA-IN 17 78917288 78917288 single base substitution C A upstream_gene_variant ORCA-IN 17 78925546 78925546 single base substitution G A downstream_gene_variant ORCA-IN 17 78925546 78925546 single base substitution G A intron_variant ORCA-IN 17 78933950 78933950 single base substitution G T exon_variant ORCA-IN 17 78933950 78933950 single base substitution G T missense_variant G1026C 3076G>T ORCA-IN 17 78933950 78933950 single base substitution G T missense_variant G1184C 3550G>T OV-AU 17 78516639 78516639 single base substitution C G upstream_gene_variant OV-AU 17 78518975 78518975 single base substitution C A 5_prime_UTR_variant OV-AU 17 78518975 78518975 single base substitution C A exon_variant OV-AU 17 78518975 78518975 single base substitution C A upstream_gene_variant OV-AU 17 78526591 78526591 single base substitution G T intron_variant OV-AU 17 78527417 78527417 single base substitution A T intron_variant OV-AU 17 78529464 78529464 single base substitution G T intron_variant OV-AU 17 78534924 78534924 single base substitution G A intron_variant OV-AU 17 78535602 78535602 single base substitution G T intron_variant OV-AU 17 78540395 78540395 single base substitution C T intron_variant OV-AU 17 78556527 78556527 single base substitution A G intron_variant OV-AU 17 78565882 78565882 single base substitution A T intron_variant OV-AU 17 78567202 78567202 single base substitution C T exon_variant OV-AU 17 78567202 78567202 single base substitution C T intron_variant OV-AU 17 78569523 78569523 single base substitution T C downstream_gene_variant OV-AU 17 78569523 78569523 single base substitution T C intron_variant OV-AU 17 78577552 78577552 single base substitution G C intron_variant OV-AU 17 78582241 78582241 single base substitution G A intron_variant OV-AU 17 78584577 78584577 single base substitution G T intron_variant OV-AU 17 78584846 78584846 single base substitution G A intron_variant OV-AU 17 78593187 78593187 single base substitution C T intron_variant OV-AU 17 78597125 78597125 single base substitution A C intron_variant OV-AU 17 78608464 78608464 single base substitution T C intron_variant OV-AU 17 78608465 78608465 single base substitution G A intron_variant OV-AU 17 78616087 78616087 single base substitution G A intron_variant OV-AU 17 78621996 78621996 single base substitution G T intron_variant OV-AU 17 78623836 78623836 single base substitution T G intron_variant OV-AU 17 78625926 78625926 single base substitution C T intron_variant OV-AU 17 78630083 78630083 single base substitution C G intron_variant OV-AU 17 78631801 78631801 single base substitution A G intron_variant OV-AU 17 78634240 78634240 single base substitution C A intron_variant OV-AU 17 78638670 78638670 single base substitution T C intron_variant OV-AU 17 78654586 78654586 single base substitution G A intron_variant OV-AU 17 78662825 78662825 single base substitution G C intron_variant OV-AU 17 78664032 78664032 single base substitution C A intron_variant OV-AU 17 78664033 78664033 single base substitution T A intron_variant OV-AU 17 78674755 78674755 single base substitution G A intron_variant OV-AU 17 78675799 78675799 single base substitution C G intron_variant OV-AU 17 78676943 78676943 single base substitution C T intron_variant OV-AU 17 78677393 78677393 single base substitution A G intron_variant OV-AU 17 78678470 78678470 single base substitution G A intron_variant OV-AU 17 78678470 78678470 single base substitution G A upstream_gene_variant OV-AU 17 78682462 78682462 single base substitution G A intron_variant OV-AU 17 78682462 78682462 single base substitution G A upstream_gene_variant OV-AU 17 78682462 78682462 single base substitution G C intron_variant OV-AU 17 78682462 78682462 single base substitution G C upstream_gene_variant OV-AU 17 78684276 78684276 single base substitution C G intron_variant OV-AU 17 78700387 78700387 single base substitution T A intron_variant OV-AU 17 78711818 78711818 single base substitution G T intron_variant OV-AU 17 78724294 78724294 single base substitution G A intron_variant OV-AU 17 78725282 78725282 single base substitution A G intron_variant OV-AU 17 78744198 78744198 single base substitution T C intron_variant OV-AU 17 78744271 78744271 single base substitution A G intron_variant OV-AU 17 78750335 78750335 single base substitution G A intron_variant OV-AU 17 78750856 78750856 single base substitution T G intron_variant OV-AU 17 78751973 78751973 single base substitution G C intron_variant OV-AU 17 78760561 78760561 single base substitution G A intron_variant OV-AU 17 78766752 78766752 single base substitution G T intron_variant OV-AU 17 78773588 78773588 single base substitution G A intron_variant OV-AU 17 78785579 78785579 single base substitution A C intron_variant OV-AU 17 78786355 78786355 single base substitution C T intron_variant OV-AU 17 78791416 78791416 single base substitution C T intron_variant OV-AU 17 78801225 78801225 single base substitution A C downstream_gene_variant OV-AU 17 78801225 78801225 single base substitution A C intron_variant OV-AU 17 78805309 78805309 single base substitution G A intron_variant OV-AU 17 78805518 78805518 single base substitution C T intron_variant OV-AU 17 78812615 78812615 single base substitution T G intron_variant OV-AU 17 78815425 78815425 single base substitution G C intron_variant OV-AU 17 78815767 78815767 single base substitution C A intron_variant OV-AU 17 78816149 78816149 single base substitution C A intron_variant OV-AU 17 78817641 78817641 single base substitution C G intron_variant OV-AU 17 78820517 78820517 single base substitution G C intron_variant OV-AU 17 78823532 78823532 single base substitution C G intron_variant OV-AU 17 78824958 78824958 single base substitution G C intron_variant OV-AU 17 78835724 78835724 single base substitution A G downstream_gene_variant OV-AU 17 78835724 78835724 single base substitution A G intron_variant OV-AU 17 78838812 78838812 single base substitution G C intron_variant OV-AU 17 78840671 78840671 single base substitution G T intron_variant OV-AU 17 78844380 78844380 single base substitution A C intron_variant OV-AU 17 78863796 78863796 single base substitution G A intron_variant OV-AU 17 78865998 78865998 single base substitution C T intron_variant OV-AU 17 78870920 78870920 single base substitution G A intron_variant OV-AU 17 78871926 78871926 single base substitution G A intron_variant OV-AU 17 78871989 78871989 single base substitution G A intron_variant OV-AU 17 78875265 78875265 single base substitution A C intron_variant OV-AU 17 78884780 78884780 single base substitution G A downstream_gene_variant OV-AU 17 78884780 78884780 single base substitution G A intron_variant OV-AU 17 78896017 78896017 single base substitution G A intron_variant OV-AU 17 78896017 78896017 single base substitution G A upstream_gene_variant OV-AU 17 78898151 78898151 single base substitution G A downstream_gene_variant OV-AU 17 78898151 78898151 single base substitution G A intron_variant OV-AU 17 78905885 78905885 single base substitution C A intron_variant OV-AU 17 78908791 78908791 single base substitution A T intron_variant OV-AU 17 78911328 78911328 single base substitution A T intron_variant OV-AU 17 78914985 78914985 single base substitution G C intron_variant OV-AU 17 78914985 78914985 single base substitution G C upstream_gene_variant OV-AU 17 78919909 78919909 single base substitution G A intron_variant OV-AU 17 78919909 78919909 single base substitution G A upstream_gene_variant OV-AU 17 78925671 78925671 single base substitution G A downstream_gene_variant OV-AU 17 78925671 78925671 single base substitution G A intron_variant OV-AU 17 78927055 78927055 single base substitution A G downstream_gene_variant OV-AU 17 78927055 78927055 single base substitution A G intron_variant OV-AU 17 78930752 78930752 single base substitution G C intron_variant OV-AU 17 78939123 78939123 single base substitution C A 3_prime_UTR_variant OV-AU 17 78939123 78939123 single base substitution C A downstream_gene_variant OV-AU 17 78939123 78939123 single base substitution C A exon_variant PACA-AU 17 78515622 78515622 single base substitution G A upstream_gene_variant PACA-AU 17 78515683 78515683 single base substitution G A upstream_gene_variant PACA-AU 17 78516009 78516009 single base substitution G A upstream_gene_variant PACA-AU 17 78516342 78516342 single base substitution A G upstream_gene_variant PACA-AU 17 78516849 78516849 single base substitution T G upstream_gene_variant PACA-AU 17 78518208 78518208 insertion of <=200bp - A upstream_gene_variant PACA-AU 17 78521018 78521018 single base substitution G A intron_variant PACA-AU 17 78521741 78521744 deletion of <=200bp TCTT - intron_variant PACA-AU 17 78523272 78523272 single base substitution G A intron_variant PACA-AU 17 78527100 78527100 single base substitution C T intron_variant PACA-AU 17 78527560 78527560 insertion of <=200bp - A intron_variant PACA-AU 17 78529200 78529200 single base substitution C T intron_variant PACA-AU 17 78532627 78532627 single base substitution C T intron_variant PACA-AU 17 78534168 78534168 single base substitution G A intron_variant PACA-AU 17 78537117 78537117 single base substitution G A intron_variant PACA-AU 17 78548495 78548495 single base substitution A G intron_variant PACA-AU 17 78550609 78550609 single base substitution T A intron_variant PACA-AU 17 78563562 78563562 single base substitution A G intron_variant PACA-AU 17 78564002 78564002 single base substitution G A intron_variant PACA-AU 17 78564249 78564249 single base substitution C T intron_variant PACA-AU 17 78564395 78564395 single base substitution C T intron_variant PACA-AU 17 78566816 78566816 single base substitution C T intron_variant PACA-AU 17 78569389 78569389 single base substitution G A downstream_gene_variant PACA-AU 17 78569389 78569389 single base substitution G A intron_variant PACA-AU 17 78577651 78577651 insertion of <=200bp - A intron_variant PACA-AU 17 78579860 78579860 single base substitution G A intron_variant PACA-AU 17 78582982 78582982 single base substitution G T intron_variant PACA-AU 17 78584337 78584337 single base substitution C A intron_variant PACA-AU 17 78586799 78586799 single base substitution G C intron_variant PACA-AU 17 78588499 78588499 single base substitution C T intron_variant PACA-AU 17 78590165 78590165 single base substitution G A intron_variant PACA-AU 17 78595317 78595317 single base substitution A C intron_variant PACA-AU 17 78598106 78598106 single base substitution T C intron_variant PACA-AU 17 78600100 78600100 single base substitution C G intron_variant PACA-AU 17 78600726 78600731 deletion of <=200bp CTCTGT - intron_variant PACA-AU 17 78608167 78608167 single base substitution A G intron_variant PACA-AU 17 78608873 78608873 single base substitution A G intron_variant PACA-AU 17 78614137 78614137 single base substitution G A intron_variant PACA-AU 17 78616172 78616172 deletion of <=200bp T - intron_variant PACA-AU 17 78616233 78616235 deletion of <=200bp CTT - intron_variant PACA-AU 17 78621175 78621179 deletion of <=200bp TATTA - intron_variant PACA-AU 17 78622449 78622449 single base substitution T G intron_variant PACA-AU 17 78631018 78631018 single base substitution G C intron_variant PACA-AU 17 78642332 78642332 single base substitution G T intron_variant PACA-AU 17 78642972 78642972 single base substitution G A intron_variant PACA-AU 17 78644601 78644601 deletion of <=200bp C - intron_variant PACA-AU 17 78645328 78645328 single base substitution G A intron_variant PACA-AU 17 78655769 78655769 single base substitution C G intron_variant PACA-AU 17 78658205 78658205 insertion of <=200bp - TTTA intron_variant PACA-AU 17 78660087 78660087 single base substitution C T intron_variant PACA-AU 17 78660274 78660274 single base substitution G A intron_variant PACA-AU 17 78663538 78663538 single base substitution A G intron_variant PACA-AU 17 78665297 78665297 single base substitution C T intron_variant PACA-AU 17 78673278 78673278 single base substitution G A intron_variant PACA-AU 17 78674497 78674497 single base substitution A G intron_variant PACA-AU 17 78675685 78675685 single base substitution C A intron_variant PACA-AU 17 78682749 78682749 insertion of <=200bp - T exon_variant PACA-AU 17 78682749 78682749 insertion of <=200bp - T intron_variant PACA-AU 17 78689388 78689388 single base substitution T G intron_variant PACA-AU 17 78695528 78695528 single base substitution C T intron_variant PACA-AU 17 78700912 78700912 single base substitution G A intron_variant PACA-AU 17 78701257 78701257 single base substitution C T intron_variant PACA-AU 17 78703657 78703657 single base substitution C G intron_variant PACA-AU 17 78713082 78713082 single base substitution G A intron_variant PACA-AU 17 78713082 78713082 single base substitution G A upstream_gene_variant PACA-AU 17 78715323 78715323 single base substitution C T intron_variant PACA-AU 17 78715323 78715323 single base substitution C T upstream_gene_variant PACA-AU 17 78717118 78717118 single base substitution G A exon_variant PACA-AU 17 78717118 78717118 single base substitution G A intron_variant PACA-AU 17 78717909 78717909 single base substitution C T intron_variant PACA-AU 17 78717951 78717951 single base substitution T C intron_variant PACA-AU 17 78720189 78720189 single base substitution G T intron_variant PACA-AU 17 78722861 78722861 single base substitution G A intron_variant PACA-AU 17 78725050 78725050 single base substitution G A intron_variant PACA-AU 17 78726775 78726775 deletion of <=200bp C - intron_variant PACA-AU 17 78733757 78733757 single base substitution C T intron_variant PACA-AU 17 78737963 78737963 single base substitution T A intron_variant PACA-AU 17 78741128 78741128 single base substitution G A intron_variant PACA-AU 17 78744033 78744033 single base substitution C T intron_variant PACA-AU 17 78744406 78744406 single base substitution G A intron_variant PACA-AU 17 78754750 78754750 single base substitution G C intron_variant PACA-AU 17 78762140 78762140 single base substitution C T intron_variant PACA-AU 17 78775437 78775437 single base substitution C A intron_variant PACA-AU 17 78779593 78779593 single base substitution G T intron_variant PACA-AU 17 78788025 78788025 single base substitution G A intron_variant PACA-AU 17 78790428 78790428 single base substitution G A intron_variant PACA-AU 17 78791911 78791911 single base substitution G T intron_variant PACA-AU 17 78797000 78797000 single base substitution G T 3_prime_UTR_variant PACA-AU 17 78797000 78797000 single base substitution G T exon_variant PACA-AU 17 78797000 78797000 single base substitution G T synonymous_variant P186P 558G>T PACA-AU 17 78797000 78797000 single base substitution G T synonymous_variant P371P 1113G>T PACA-AU 17 78799592 78799592 single base substitution G A downstream_gene_variant PACA-AU 17 78799592 78799592 single base substitution G A intron_variant PACA-AU 17 78799859 78799859 single base substitution G A downstream_gene_variant PACA-AU 17 78799859 78799859 single base substitution G A intron_variant PACA-AU 17 78804181 78804181 single base substitution T G intron_variant PACA-AU 17 78805292 78805292 single base substitution A T intron_variant PACA-AU 17 78810181 78810181 single base substitution G C intron_variant PACA-AU 17 78811152 78811152 single base substitution G T intron_variant PACA-AU 17 78814596 78814596 single base substitution G A intron_variant PACA-AU 17 78815021 78815021 single base substitution G A intron_variant PACA-AU 17 78815859 78815859 single base substitution C T intron_variant PACA-AU 17 78818074 78818074 single base substitution G A intron_variant PACA-AU 17 78821473 78821473 single base substitution G A intron_variant PACA-AU 17 78831681 78831681 single base substitution A T 3_prime_UTR_variant PACA-AU 17 78831681 78831681 single base substitution A T exon_variant PACA-AU 17 78831681 78831681 single base substitution A T missense_variant K312M 935A>T PACA-AU 17 78831681 78831681 single base substitution A T missense_variant K497M 1490A>T PACA-AU 17 78833293 78833293 single base substitution C T downstream_gene_variant PACA-AU 17 78833293 78833293 single base substitution C T intron_variant PACA-AU 17 78843403 78843403 single base substitution G A intron_variant PACA-AU 17 78843518 78843518 single base substitution G A intron_variant PACA-AU 17 78843918 78843918 single base substitution A C intron_variant PACA-AU 17 78845212 78845212 single base substitution C T intron_variant PACA-AU 17 78845847 78845847 single base substitution C T intron_variant PACA-AU 17 78858064 78858064 single base substitution G A intron_variant PACA-AU 17 78859191 78859193 deletion of <=200bp CTC - intron_variant PACA-AU 17 78859503 78859503 single base substitution G A intron_variant PACA-AU 17 78860587 78860587 single base substitution G A intron_variant PACA-AU 17 78866021 78866021 single base substitution C A intron_variant PACA-AU 17 78868827 78868827 single base substitution C T intron_variant PACA-AU 17 78870344 78870364 deletion of <=200bp GCCGCGCCGACACCCCACACA - intron_variant PACA-AU 17 78870862 78870862 single base substitution C G intron_variant PACA-AU 17 78873211 78873211 single base substitution T A intron_variant PACA-AU 17 78873408 78873408 single base substitution C T intron_variant PACA-AU 17 78873791 78873791 single base substitution C T intron_variant PACA-AU 17 78875944 78875944 single base substitution C T intron_variant PACA-AU 17 78893240 78893253 deletion of <=200bp CCAAGATAGAGCAG - intron_variant PACA-AU 17 78893240 78893253 deletion of <=200bp CCAAGATAGAGCAG - upstream_gene_variant PACA-AU 17 78894067 78894067 single base substitution G A intron_variant PACA-AU 17 78894067 78894067 single base substitution G A upstream_gene_variant PACA-AU 17 78894349 78894349 single base substitution G A intron_variant PACA-AU 17 78894349 78894349 single base substitution G A upstream_gene_variant PACA-AU 17 78896535 78896535 single base substitution C T exon_variant PACA-AU 17 78896535 78896535 single base substitution C T synonymous_variant N4N 12C>T PACA-AU 17 78896535 78896535 single base substitution C T synonymous_variant N686N 2058C>T PACA-AU 17 78896535 78896535 single base substitution C T synonymous_variant N844N 2532C>T PACA-AU 17 78898472 78898472 deletion of <=200bp G - downstream_gene_variant PACA-AU 17 78898472 78898472 deletion of <=200bp G - intron_variant PACA-AU 17 78902835 78902835 single base substitution A G downstream_gene_variant PACA-AU 17 78902835 78902835 single base substitution A G intron_variant PACA-AU 17 78905947 78905948 deletion of <=200bp AT - intron_variant PACA-AU 17 78906422 78906422 deletion of <=200bp A - intron_variant PACA-AU 17 78914189 78914189 single base substitution C T intron_variant PACA-AU 17 78920481 78920481 single base substitution A G intron_variant PACA-AU 17 78920481 78920481 single base substitution A G upstream_gene_variant PACA-AU 17 78921713 78921713 single base substitution G T intron_variant PACA-AU 17 78921713 78921713 single base substitution G T upstream_gene_variant PACA-AU 17 78922515 78922515 single base substitution G A intron_variant PACA-AU 17 78929236 78929236 single base substitution G T intron_variant PACA-AU 17 78930554 78930554 single base substitution C T intron_variant PACA-AU 17 78930604 78930604 single base substitution A G intron_variant PACA-AU 17 78931795 78931796 deletion of <=200bp TC - intron_variant PACA-AU 17 78932705 78932705 single base substitution G T intron_variant PACA-AU 17 78933961 78933961 single base substitution C T exon_variant PACA-AU 17 78933961 78933961 single base substitution C T synonymous_variant D1029D 3087C>T PACA-AU 17 78933961 78933961 single base substitution C T synonymous_variant D1187D 3561C>T PACA-AU 17 78938122 78938122 single base substitution G A downstream_gene_variant PACA-AU 17 78938122 78938122 single base substitution G A exon_variant PACA-AU 17 78938122 78938122 single base substitution G A missense_variant V1176I 3526G>A PACA-AU 17 78938122 78938122 single base substitution G A missense_variant V1334I 4000G>A PACA-AU 17 78938262 78938262 single base substitution C T 3_prime_UTR_variant PACA-AU 17 78938262 78938262 single base substitution C T downstream_gene_variant PACA-AU 17 78938262 78938262 single base substitution C T exon_variant PACA-AU 17 78938492 78938492 single base substitution A C 3_prime_UTR_variant PACA-AU 17 78938492 78938492 single base substitution A C downstream_gene_variant PACA-AU 17 78938492 78938492 single base substitution A C exon_variant PACA-AU 17 78941095 78941095 deletion of <=200bp C - downstream_gene_variant PACA-AU 17 78942195 78942195 single base substitution G A downstream_gene_variant PACA-AU 17 78942231 78942231 single base substitution A G downstream_gene_variant PACA-AU 17 78943191 78943191 single base substitution C T downstream_gene_variant PACA-CA 17 78513868 78513868 single base substitution C T upstream_gene_variant PACA-CA 17 78518670 78518670 single base substitution T C 5_prime_UTR_variant PACA-CA 17 78518670 78518670 single base substitution T C exon_variant PACA-CA 17 78518670 78518670 single base substitution T C upstream_gene_variant PACA-CA 17 78518838 78518838 single base substitution G A 5_prime_UTR_variant PACA-CA 17 78518838 78518838 single base substitution G A exon_variant PACA-CA 17 78518838 78518838 single base substitution G A upstream_gene_variant PACA-CA 17 78546426 78546426 single base substitution G A intron_variant PACA-CA 17 78554765 78554765 single base substitution C A intron_variant PACA-CA 17 78556119 78556119 single base substitution C T intron_variant PACA-CA 17 78556902 78556902 single base substitution C T intron_variant PACA-CA 17 78557368 78557368 single base substitution C G intron_variant PACA-CA 17 78564392 78564392 single base substitution G A intron_variant PACA-CA 17 78568315 78568315 single base substitution G A downstream_gene_variant PACA-CA 17 78568315 78568315 single base substitution G A intron_variant PACA-CA 17 78568319 78568319 single base substitution T G downstream_gene_variant PACA-CA 17 78568319 78568319 single base substitution T G intron_variant PACA-CA 17 78568779 78568779 single base substitution C T downstream_gene_variant PACA-CA 17 78568779 78568779 single base substitution C T intron_variant PACA-CA 17 78570911 78570911 single base substitution G A downstream_gene_variant PACA-CA 17 78570911 78570911 single base substitution G A intron_variant PACA-CA 17 78573565 78573565 single base substitution C T intron_variant PACA-CA 17 78579485 78579485 single base substitution T C intron_variant PACA-CA 17 78580285 78580285 single base substitution A T intron_variant PACA-CA 17 78581269 78581269 single base substitution G A intron_variant PACA-CA 17 78586431 78586431 single base substitution C T intron_variant PACA-CA 17 78586511 78586511 insertion of <=200bp - A intron_variant PACA-CA 17 78590877 78590877 insertion of <=200bp - C intron_variant PACA-CA 17 78592114 78592114 deletion of <=200bp T - intron_variant PACA-CA 17 78595020 78595020 single base substitution G C intron_variant PACA-CA 17 78595722 78595722 single base substitution G C intron_variant PACA-CA 17 78596746 78596746 insertion of <=200bp - T intron_variant PACA-CA 17 78598014 78598014 single base substitution G A intron_variant PACA-CA 17 78598718 78598718 single base substitution G A intron_variant PACA-CA 17 78602888 78602888 single base substitution T C intron_variant PACA-CA 17 78603098 78603098 single base substitution C T intron_variant PACA-CA 17 78603157 78603157 single base substitution T C intron_variant PACA-CA 17 78606719 78606719 single base substitution C A intron_variant PACA-CA 17 78607658 78607658 single base substitution G A intron_variant PACA-CA 17 78608220 78608225 deletion of <=200bp CGTGTG - intron_variant PACA-CA 17 78610129 78610129 single base substitution C T intron_variant PACA-CA 17 78611931 78611931 single base substitution C T intron_variant PACA-CA 17 78612712 78612712 single base substitution A T intron_variant PACA-CA 17 78613040 78613040 single base substitution G T intron_variant PACA-CA 17 78613259 78613259 single base substitution G C intron_variant PACA-CA 17 78613341 78613341 single base substitution T C intron_variant PACA-CA 17 78613352 78613352 single base substitution C T intron_variant PACA-CA 17 78615873 78615873 insertion of <=200bp - A intron_variant PACA-CA 17 78623628 78623628 single base substitution C T intron_variant PACA-CA 17 78624652 78624652 single base substitution G T intron_variant PACA-CA 17 78625057 78625057 single base substitution G A intron_variant PACA-CA 17 78625528 78625528 insertion of <=200bp - A intron_variant PACA-CA 17 78625838 78625838 single base substitution C T intron_variant PACA-CA 17 78628202 78628202 single base substitution C T intron_variant PACA-CA 17 78628245 78628245 single base substitution G A intron_variant PACA-CA 17 78637591 78637591 single base substitution C T intron_variant PACA-CA 17 78641177 78641177 single base substitution C A intron_variant PACA-CA 17 78644591 78644591 deletion of <=200bp C - intron_variant PACA-CA 17 78645129 78645129 single base substitution A T intron_variant PACA-CA 17 78646461 78646461 single base substitution G A intron_variant PACA-CA 17 78648930 78648930 insertion of <=200bp - T intron_variant PACA-CA 17 78654037 78654037 single base substitution G A intron_variant PACA-CA 17 78654645 78654645 single base substitution G A intron_variant PACA-CA 17 78659560 78659560 single base substitution G A intron_variant PACA-CA 17 78660985 78660985 single base substitution G A intron_variant PACA-CA 17 78663652 78663652 deletion of <=200bp T - intron_variant PACA-CA 17 78664439 78664439 single base substitution G A intron_variant PACA-CA 17 78667444 78667444 single base substitution C T intron_variant PACA-CA 17 78668274 78668274 single base substitution C A intron_variant PACA-CA 17 78669841 78669841 single base substitution C T intron_variant PACA-CA 17 78673258 78673258 single base substitution A G intron_variant PACA-CA 17 78673474 78673474 single base substitution G A intron_variant PACA-CA 17 78674812 78674812 single base substitution G T intron_variant PACA-CA 17 78674944 78674944 single base substitution A C intron_variant PACA-CA 17 78675057 78675057 single base substitution A G intron_variant PACA-CA 17 78680320 78680320 single base substitution T C intron_variant PACA-CA 17 78680320 78680320 single base substitution T C upstream_gene_variant PACA-CA 17 78681820 78681820 single base substitution C T intron_variant PACA-CA 17 78681820 78681820 single base substitution C T upstream_gene_variant PACA-CA 17 78682478 78682478 single base substitution G A intron_variant PACA-CA 17 78682478 78682478 single base substitution G A upstream_gene_variant PACA-CA 17 78684243 78684243 single base substitution G T intron_variant PACA-CA 17 78685833 78685833 single base substitution C T intron_variant PACA-CA 17 78688282 78688282 single base substitution G T intron_variant PACA-CA 17 78689889 78689889 single base substitution G T intron_variant PACA-CA 17 78692212 78692212 single base substitution C T intron_variant PACA-CA 17 78692400 78692400 single base substitution C T intron_variant PACA-CA 17 78697564 78697564 single base substitution G A intron_variant PACA-CA 17 78703864 78703864 single base substitution C A intron_variant PACA-CA 17 78704647 78704647 single base substitution T G intron_variant PACA-CA 17 78705963 78705963 insertion of <=200bp - A intron_variant PACA-CA 17 78708876 78708876 single base substitution C T intron_variant PACA-CA 17 78709473 78709473 single base substitution G A intron_variant PACA-CA 17 78709634 78709634 single base substitution C A intron_variant PACA-CA 17 78714578 78714578 single base substitution A T intron_variant PACA-CA 17 78714578 78714578 single base substitution A T upstream_gene_variant PACA-CA 17 78718176 78718176 single base substitution C T intron_variant PACA-CA 17 78722635 78722635 single base substitution G A intron_variant PACA-CA 17 78723828 78723828 single base substitution A T intron_variant PACA-CA 17 78725234 78725234 single base substitution C T intron_variant PACA-CA 17 78725675 78725675 single base substitution C T intron_variant PACA-CA 17 78731204 78731204 single base substitution G A downstream_gene_variant PACA-CA 17 78731204 78731204 single base substitution G A intron_variant PACA-CA 17 78731571 78731573 deletion of <=200bp CTC - downstream_gene_variant PACA-CA 17 78731571 78731573 deletion of <=200bp CTC - intron_variant PACA-CA 17 78731759 78731759 single base substitution G A downstream_gene_variant PACA-CA 17 78731759 78731759 single base substitution G A intron_variant PACA-CA 17 78732474 78732474 single base substitution C G downstream_gene_variant PACA-CA 17 78732474 78732474 single base substitution C G intron_variant PACA-CA 17 78732990 78732990 deletion of <=200bp A - intron_variant PACA-CA 17 78734023 78734023 single base substitution C A intron_variant PACA-CA 17 78734929 78734929 insertion of <=200bp - T intron_variant PACA-CA 17 78736660 78736660 single base substitution G A intron_variant PACA-CA 17 78737504 78737504 single base substitution A G intron_variant PACA-CA 17 78739866 78739866 deletion of <=200bp T - intron_variant PACA-CA 17 78748080 78748080 single base substitution G A intron_variant PACA-CA 17 78749577 78749577 single base substitution G A intron_variant PACA-CA 17 78750624 78750624 single base substitution A G intron_variant PACA-CA 17 78751923 78751923 single base substitution T C intron_variant PACA-CA 17 78752481 78752481 single base substitution C T intron_variant PACA-CA 17 78754240 78754240 single base substitution C T intron_variant PACA-CA 17 78755842 78755842 single base substitution G A intron_variant PACA-CA 17 78756104 78756104 single base substitution C T intron_variant PACA-CA 17 78762981 78762981 single base substitution C A intron_variant PACA-CA 17 78771220 78771220 single base substitution T A intron_variant PACA-CA 17 78776119 78776119 single base substitution C T intron_variant PACA-CA 17 78777354 78777354 single base substitution C T intron_variant PACA-CA 17 78778406 78778406 single base substitution C T intron_variant PACA-CA 17 78786814 78786814 single base substitution C A intron_variant PACA-CA 17 78788427 78788427 single base substitution G T intron_variant PACA-CA 17 78789778 78789778 single base substitution C T intron_variant PACA-CA 17 78793865 78793865 single base substitution G A intron_variant PACA-CA 17 78798924 78798925 deletion of <=200bp CT - downstream_gene_variant PACA-CA 17 78798924 78798925 deletion of <=200bp CT - intron_variant PACA-CA 17 78798929 78798929 single base substitution T C downstream_gene_variant PACA-CA 17 78798929 78798929 single base substitution T C intron_variant PACA-CA 17 78800580 78800580 single base substitution C T downstream_gene_variant PACA-CA 17 78800580 78800580 single base substitution C T intron_variant PACA-CA 17 78802284 78802284 single base substitution G A downstream_gene_variant PACA-CA 17 78802284 78802284 single base substitution G A intron_variant PACA-CA 17 78802294 78802294 single base substitution G A downstream_gene_variant PACA-CA 17 78802294 78802294 single base substitution G A intron_variant PACA-CA 17 78803169 78803169 single base substitution C T intron_variant PACA-CA 17 78803274 78803274 single base substitution G A intron_variant PACA-CA 17 78805655 78805655 insertion of <=200bp - TGTATC intron_variant PACA-CA 17 78807623 78807623 single base substitution C T intron_variant PACA-CA 17 78809600 78809600 single base substitution G A intron_variant PACA-CA 17 78813039 78813039 single base substitution G A intron_variant PACA-CA 17 78813417 78813417 single base substitution C T intron_variant PACA-CA 17 78814134 78814134 single base substitution C T intron_variant PACA-CA 17 78814946 78814946 single base substitution T A intron_variant PACA-CA 17 78815433 78815433 single base substitution G C intron_variant PACA-CA 17 78818013 78818013 single base substitution C T intron_variant PACA-CA 17 78819154 78819154 single base substitution G A intron_variant PACA-CA 17 78825410 78825410 single base substitution G A intron_variant PACA-CA 17 78829212 78829212 single base substitution G T intron_variant PACA-CA 17 78831713 78831713 single base substitution G A 3_prime_UTR_variant PACA-CA 17 78831713 78831713 single base substitution G A intron_variant PACA-CA 17 78831713 78831713 single base substitution G A missense_variant A323T 967G>A PACA-CA 17 78833628 78833628 single base substitution G A downstream_gene_variant PACA-CA 17 78833628 78833628 single base substitution G A intron_variant PACA-CA 17 78833646 78833646 single base substitution C G downstream_gene_variant PACA-CA 17 78833646 78833646 single base substitution C G intron_variant PACA-CA 17 78834399 78834399 single base substitution C T downstream_gene_variant PACA-CA 17 78834399 78834399 single base substitution C T intron_variant PACA-CA 17 78836397 78836397 single base substitution G A downstream_gene_variant PACA-CA 17 78836397 78836397 single base substitution G A intron_variant PACA-CA 17 78837570 78837570 single base substitution C G intron_variant PACA-CA 17 78840149 78840149 single base substitution G C intron_variant PACA-CA 17 78842063 78842063 single base substitution T C intron_variant PACA-CA 17 78845371 78845371 single base substitution G A intron_variant PACA-CA 17 78849723 78849723 single base substitution G T intron_variant PACA-CA 17 78850100 78850100 single base substitution A C intron_variant PACA-CA 17 78850588 78850588 single base substitution G A intron_variant PACA-CA 17 78850593 78850593 single base substitution C T intron_variant PACA-CA 17 78853296 78853296 single base substitution G A intron_variant PACA-CA 17 78855438 78855438 single base substitution G A intron_variant PACA-CA 17 78863694 78863694 single base substitution C T intron_variant PACA-CA 17 78869814 78869814 single base substitution C T intron_variant PACA-CA 17 78871442 78871442 single base substitution G A intron_variant PACA-CA 17 78875491 78875491 single base substitution A C intron_variant PACA-CA 17 78877159 78877159 single base substitution G A intron_variant PACA-CA 17 78879613 78879613 single base substitution G A intron_variant PACA-CA 17 78880041 78880041 single base substitution G A intron_variant PACA-CA 17 78882926 78882926 single base substitution G T intron_variant PACA-CA 17 78883343 78883343 insertion of <=200bp - T intron_variant PACA-CA 17 78886494 78886494 single base substitution C T downstream_gene_variant PACA-CA 17 78886494 78886494 single base substitution C T intron_variant PACA-CA 17 78897040 78897040 single base substitution G A intron_variant PACA-CA 17 78899970 78899970 single base substitution C T downstream_gene_variant PACA-CA 17 78899970 78899970 single base substitution C T intron_variant PACA-CA 17 78900821 78900821 single base substitution C T downstream_gene_variant PACA-CA 17 78900821 78900821 single base substitution C T intron_variant PACA-CA 17 78905413 78905413 single base substitution C T intron_variant PACA-CA 17 78909128 78909128 insertion of <=200bp - T intron_variant PACA-CA 17 78910022 78910022 single base substitution C T intron_variant PACA-CA 17 78910540 78910540 single base substitution A G intron_variant PACA-CA 17 78913767 78913767 single base substitution G A intron_variant PACA-CA 17 78914623 78914623 single base substitution G T intron_variant PACA-CA 17 78914623 78914623 single base substitution G T upstream_gene_variant PACA-CA 17 78916380 78916380 single base substitution C T intron_variant PACA-CA 17 78916380 78916380 single base substitution C T upstream_gene_variant PACA-CA 17 78924846 78924846 single base substitution G A downstream_gene_variant PACA-CA 17 78924846 78924846 single base substitution G A intron_variant PACA-CA 17 78924940 78924940 single base substitution G A downstream_gene_variant PACA-CA 17 78924940 78924940 single base substitution G A intron_variant PACA-CA 17 78925022 78925022 single base substitution G A downstream_gene_variant PACA-CA 17 78925022 78925022 single base substitution G A intron_variant PACA-CA 17 78925190 78925190 single base substitution G A downstream_gene_variant PACA-CA 17 78925190 78925190 single base substitution G A intron_variant PACA-CA 17 78925242 78925242 single base substitution G A downstream_gene_variant PACA-CA 17 78925242 78925242 single base substitution G A intron_variant PACA-CA 17 78925264 78925264 single base substitution G A downstream_gene_variant PACA-CA 17 78925264 78925264 single base substitution G A intron_variant PACA-CA 17 78930450 78930450 single base substitution C T intron_variant PACA-CA 17 78930703 78930703 single base substitution G T intron_variant PACA-CA 17 78934344 78934344 single base substitution C T intron_variant PACA-CA 17 78934593 78934593 single base substitution G T intron_variant PACA-CA 17 78934887 78934887 single base substitution C T intron_variant PACA-CA 17 78936416 78936416 single base substitution C T downstream_gene_variant PACA-CA 17 78936416 78936416 single base substitution C T intron_variant PACA-CA 17 78938627 78938627 single base substitution C T 3_prime_UTR_variant PACA-CA 17 78938627 78938627 single base substitution C T downstream_gene_variant PACA-CA 17 78938627 78938627 single base substitution C T exon_variant PACA-CA 17 78940913 78940913 single base substitution A C downstream_gene_variant PACA-CA 17 78945013 78945013 single base substitution T A downstream_gene_variant PAEN-AU 17 78584426 78584426 single base substitution T C intron_variant PAEN-AU 17 78585568 78585568 single base substitution T A intron_variant PAEN-AU 17 78597847 78597847 single base substitution C T intron_variant PAEN-AU 17 78608464 78608464 single base substitution T C intron_variant PAEN-AU 17 78620111 78620111 single base substitution C T intron_variant PAEN-AU 17 78662208 78662208 single base substitution A G intron_variant PAEN-AU 17 78669237 78669237 single base substitution T C intron_variant PAEN-AU 17 78670013 78670013 single base substitution T C intron_variant PAEN-AU 17 78745678 78745678 single base substitution G A intron_variant PAEN-AU 17 78762690 78762690 single base substitution C G intron_variant PAEN-AU 17 78815433 78815433 single base substitution G C intron_variant PAEN-AU 17 78826691 78826691 single base substitution A C intron_variant PAEN-AU 17 78828015 78828015 single base substitution C G intron_variant PAEN-AU 17 78839123 78839123 single base substitution G T intron_variant PAEN-AU 17 78850553 78850553 single base substitution G T intron_variant PAEN-AU 17 78866261 78866261 single base substitution G A intron_variant PAEN-AU 17 78891678 78891678 single base substitution G A intron_variant PAEN-AU 17 78891678 78891678 single base substitution G A upstream_gene_variant PAEN-IT 17 78633054 78633054 single base substitution G A intron_variant PAEN-IT 17 78673353 78673353 single base substitution C G intron_variant PAEN-IT 17 78700906 78700906 single base substitution C T intron_variant PAEN-IT 17 78709908 78709908 single base substitution C G intron_variant PAEN-IT 17 78768359 78768359 single base substitution G A intron_variant PAEN-IT 17 78770042 78770042 single base substitution C T intron_variant PAEN-IT 17 78786965 78786965 single base substitution T A intron_variant PAEN-IT 17 78790725 78790725 single base substitution G T intron_variant PAEN-IT 17 78877627 78877627 single base substitution C T intron_variant PAEN-IT 17 78890044 78890044 single base substitution G C intron_variant PAEN-IT 17 78893003 78893003 single base substitution C T intron_variant PAEN-IT 17 78893003 78893003 single base substitution C T upstream_gene_variant PBCA-DE 17 78518182 78518182 deletion of <=200bp C - upstream_gene_variant PBCA-DE 17 78523222 78523222 single base substitution G T intron_variant PBCA-DE 17 78530378 78530378 single base substitution G A intron_variant PBCA-DE 17 78539329 78539329 single base substitution A T intron_variant PBCA-DE 17 78539425 78539425 single base substitution C T intron_variant PBCA-DE 17 78540349 78540349 single base substitution G A intron_variant PBCA-DE 17 78543186 78543186 single base substitution G A intron_variant PBCA-DE 17 78544759 78544759 single base substitution A T intron_variant PBCA-DE 17 78549575 78549575 single base substitution G T intron_variant PBCA-DE 17 78554414 78554414 single base substitution G A intron_variant PBCA-DE 17 78560944 78560944 single base substitution C G intron_variant PBCA-DE 17 78563629 78563629 single base substitution T C intron_variant PBCA-DE 17 78564392 78564392 single base substitution G A intron_variant PBCA-DE 17 78564395 78564395 single base substitution C T intron_variant PBCA-DE 17 78564540 78564540 single base substitution C T intron_variant PBCA-DE 17 78572683 78572683 insertion of <=200bp - TCTA intron_variant PBCA-DE 17 78576699 78576699 single base substitution T A intron_variant PBCA-DE 17 78576700 78576700 single base substitution C A intron_variant PBCA-DE 17 78579364 78579364 single base substitution T C intron_variant PBCA-DE 17 78583966 78583966 single base substitution C A intron_variant PBCA-DE 17 78584477 78584477 single base substitution G T intron_variant PBCA-DE 17 78587096 78587096 single base substitution T C intron_variant PBCA-DE 17 78603157 78603157 single base substitution T C intron_variant PBCA-DE 17 78603280 78603280 single base substitution G A intron_variant PBCA-DE 17 78608049 78608049 single base substitution T C intron_variant PBCA-DE 17 78608055 78608055 single base substitution C T intron_variant PBCA-DE 17 78608192 78608192 single base substitution C T intron_variant PBCA-DE 17 78608378 78608378 single base substitution T C intron_variant PBCA-DE 17 78608447 78608447 single base substitution T A intron_variant PBCA-DE 17 78609583 78609583 single base substitution C A intron_variant PBCA-DE 17 78624342 78624342 single base substitution G C intron_variant PBCA-DE 17 78629542 78629542 single base substitution A G intron_variant PBCA-DE 17 78633621 78633621 single base substitution A T intron_variant PBCA-DE 17 78633918 78633918 insertion of <=200bp - AAAAC intron_variant PBCA-DE 17 78643352 78643352 insertion of <=200bp - T intron_variant PBCA-DE 17 78643584 78643584 single base substitution C T intron_variant PBCA-DE 17 78648537 78648537 single base substitution G A intron_variant PBCA-DE 17 78651111 78651111 single base substitution T G intron_variant PBCA-DE 17 78655908 78655908 deletion of <=200bp C - intron_variant PBCA-DE 17 78661147 78661147 single base substitution C T intron_variant PBCA-DE 17 78662534 78662534 insertion of <=200bp - T intron_variant PBCA-DE 17 78665070 78665070 insertion of <=200bp - T intron_variant PBCA-DE 17 78672169 78672169 single base substitution C T intron_variant PBCA-DE 17 78674427 78674429 deletion of <=200bp GGC - intron_variant PBCA-DE 17 78674502 78674502 single base substitution G A intron_variant PBCA-DE 17 78675764 78675780 deletion of <=200bp CCATGCCGCCACGAGGG - intron_variant PBCA-DE 17 78677055 78677055 single base substitution G A intron_variant PBCA-DE 17 78677250 78677250 single base substitution A G intron_variant PBCA-DE 17 78696815 78696815 single base substitution A T intron_variant PBCA-DE 17 78709891 78709891 single base substitution G C intron_variant PBCA-DE 17 78713529 78713529 insertion of <=200bp - A intron_variant PBCA-DE 17 78713529 78713529 insertion of <=200bp - A upstream_gene_variant PBCA-DE 17 78715139 78715139 single base substitution G A intron_variant PBCA-DE 17 78715139 78715139 single base substitution G A upstream_gene_variant PBCA-DE 17 78717493 78717493 single base substitution A T intron_variant PBCA-DE 17 78717495 78717495 single base substitution C T intron_variant PBCA-DE 17 78717512 78717512 single base substitution G C intron_variant PBCA-DE 17 78717519 78717519 single base substitution C T intron_variant PBCA-DE 17 78717817 78717817 single base substitution A T intron_variant PBCA-DE 17 78717922 78717922 single base substitution C T intron_variant PBCA-DE 17 78718143 78718143 single base substitution C T intron_variant PBCA-DE 17 78718259 78718259 single base substitution A G intron_variant PBCA-DE 17 78718314 78718314 single base substitution C T intron_variant PBCA-DE 17 78718385 78718385 single base substitution A G intron_variant PBCA-DE 17 78718585 78718585 single base substitution T G intron_variant PBCA-DE 17 78718681 78718681 single base substitution A T intron_variant PBCA-DE 17 78718683 78718683 single base substitution C T intron_variant PBCA-DE 17 78743811 78743812 deletion of <=200bp AG - intron_variant PBCA-DE 17 78747543 78747543 single base substitution G A intron_variant PBCA-DE 17 78755573 78755573 single base substitution T G intron_variant PBCA-DE 17 78774418 78774418 deletion of <=200bp G - intron_variant PBCA-DE 17 78780464 78780464 single base substitution T C intron_variant PBCA-DE 17 78785432 78785432 single base substitution C T intron_variant PBCA-DE 17 78785462 78785462 single base substitution G C intron_variant PBCA-DE 17 78785470 78785470 single base substitution G A intron_variant PBCA-DE 17 78785486 78785486 single base substitution C T intron_variant PBCA-DE 17 78785527 78785527 single base substitution C A intron_variant PBCA-DE 17 78785633 78785633 insertion of <=200bp - T intron_variant PBCA-DE 17 78799194 78799194 single base substitution T C downstream_gene_variant PBCA-DE 17 78799194 78799194 single base substitution T C intron_variant PBCA-DE 17 78799195 78799195 single base substitution G C downstream_gene_variant PBCA-DE 17 78799195 78799195 single base substitution G C intron_variant PBCA-DE 17 78799673 78799673 single base substitution G T downstream_gene_variant PBCA-DE 17 78799673 78799673 single base substitution G T intron_variant PBCA-DE 17 78804271 78804272 deletion of <=200bp AC - intron_variant PBCA-DE 17 78808751 78808751 single base substitution C T intron_variant PBCA-DE 17 78809937 78809937 single base substitution G A intron_variant PBCA-DE 17 78813343 78813343 single base substitution C G intron_variant PBCA-DE 17 78814312 78814312 insertion of <=200bp - CTCT intron_variant PBCA-DE 17 78814457 78814457 single base substitution A G intron_variant PBCA-DE 17 78815021 78815021 single base substitution G A intron_variant PBCA-DE 17 78815078 78815078 single base substitution C T intron_variant PBCA-DE 17 78815099 78815099 single base substitution A C intron_variant PBCA-DE 17 78815100 78815100 single base substitution G A intron_variant PBCA-DE 17 78815108 78815108 single base substitution G C intron_variant PBCA-DE 17 78815120 78815120 single base substitution C A intron_variant PBCA-DE 17 78829361 78829361 insertion of <=200bp - T intron_variant PBCA-DE 17 78836373 78836373 insertion of <=200bp - CCCT downstream_gene_variant PBCA-DE 17 78836373 78836373 insertion of <=200bp - CCCT intron_variant PBCA-DE 17 78837116 78837116 single base substitution C T intron_variant PBCA-DE 17 78838234 78838234 insertion of <=200bp - TTC intron_variant PBCA-DE 17 78838237 78838237 insertion of <=200bp - T intron_variant PBCA-DE 17 78838239 78838239 insertion of <=200bp - TT intron_variant PBCA-DE 17 78843241 78843241 single base substitution C T intron_variant PBCA-DE 17 78845833 78845833 single base substitution A G intron_variant PBCA-DE 17 78849802 78849802 single base substitution A G intron_variant PBCA-DE 17 78850816 78850816 single base substitution T C intron_variant PBCA-DE 17 78855091 78855091 single base substitution G A intron_variant PBCA-DE 17 78860925 78860925 single base substitution C T intron_variant PBCA-DE 17 78861472 78861472 single base substitution A G intron_variant PBCA-DE 17 78861590 78861590 single base substitution G A intron_variant PBCA-DE 17 78864181 78864181 single base substitution C T intron_variant PBCA-DE 17 78865256 78865256 deletion of <=200bp C - intron_variant PBCA-DE 17 78868565 78868566 deletion of <=200bp GT - intron_variant PBCA-DE 17 78870145 78870145 single base substitution G C intron_variant PBCA-DE 17 78870374 78870374 single base substitution A T intron_variant PBCA-DE 17 78882399 78882399 single base substitution A C intron_variant PBCA-DE 17 78894163 78894163 single base substitution G A intron_variant PBCA-DE 17 78894163 78894163 single base substitution G A upstream_gene_variant PBCA-DE 17 78901731 78901731 single base substitution G A downstream_gene_variant PBCA-DE 17 78901731 78901731 single base substitution G A intron_variant PBCA-DE 17 78903574 78903574 single base substitution G T intron_variant PBCA-DE 17 78903823 78903823 single base substitution T C intron_variant PBCA-DE 17 78903824 78903824 single base substitution G A intron_variant PBCA-DE 17 78904178 78904187 deletion of <=200bp CAGCTCAGCT - intron_variant PBCA-DE 17 78916770 78916770 single base substitution G A intron_variant PBCA-DE 17 78916770 78916770 single base substitution G A upstream_gene_variant PBCA-DE 17 78917922 78917922 single base substitution A G intron_variant PBCA-DE 17 78917922 78917922 single base substitution A G upstream_gene_variant PBCA-DE 17 78920075 78920075 single base substitution T C intron_variant PBCA-DE 17 78920075 78920075 single base substitution T C upstream_gene_variant PBCA-DE 17 78924051 78924051 single base substitution C T downstream_gene_variant PBCA-DE 17 78924051 78924051 single base substitution C T intron_variant PBCA-DE 17 78937591 78937591 single base substitution C G downstream_gene_variant PBCA-DE 17 78937591 78937591 single base substitution C G intron_variant PBCA-DE 17 78937594 78937594 single base substitution C G downstream_gene_variant PBCA-DE 17 78937594 78937594 single base substitution C G intron_variant PBCA-DE 17 78939471 78939471 single base substitution T G 3_prime_UTR_variant PBCA-DE 17 78939471 78939471 single base substitution T G downstream_gene_variant PBCA-DE 17 78939471 78939471 single base substitution T G exon_variant PBCA-DE 17 78940161 78940161 single base substitution C T 3_prime_UTR_variant PBCA-DE 17 78940161 78940161 single base substitution C T downstream_gene_variant PBCA-DE 17 78940161 78940161 single base substitution C T exon_variant PBCA-DE 17 78942771 78942771 single base substitution A T downstream_gene_variant PBCA-DE 17 78944738 78944738 single base substitution A G downstream_gene_variant PRAD-CA 17 78516865 78516865 single base substitution C T upstream_gene_variant PRAD-CA 17 78546055 78546055 single base substitution G A intron_variant PRAD-CA 17 78555298 78555298 single base substitution A G intron_variant PRAD-CA 17 78556490 78556490 single base substitution C T intron_variant PRAD-CA 17 78575103 78575103 single base substitution C T intron_variant PRAD-CA 17 78584436 78584436 single base substitution G A intron_variant PRAD-CA 17 78586159 78586159 single base substitution G C intron_variant PRAD-CA 17 78587942 78587942 single base substitution C T intron_variant PRAD-CA 17 78593782 78593782 single base substitution G A intron_variant PRAD-CA 17 78599033 78599033 single base substitution A G intron_variant PRAD-CA 17 78608494 78608494 single base substitution C T intron_variant PRAD-CA 17 78608539 78608539 single base substitution T C intron_variant PRAD-CA 17 78636713 78636713 single base substitution C A intron_variant PRAD-CA 17 78642427 78642427 single base substitution T A intron_variant PRAD-CA 17 78655452 78655452 single base substitution C G intron_variant PRAD-CA 17 78656952 78656952 single base substitution C T intron_variant PRAD-CA 17 78658237 78658237 single base substitution T A intron_variant PRAD-CA 17 78659860 78659860 single base substitution G T intron_variant PRAD-CA 17 78672086 78672086 single base substitution A G intron_variant PRAD-CA 17 78674404 78674404 single base substitution A G intron_variant PRAD-CA 17 78768214 78768214 single base substitution A G intron_variant PRAD-CA 17 78770024 78770024 single base substitution G A intron_variant PRAD-CA 17 78805261 78805261 single base substitution G A intron_variant PRAD-CA 17 78813616 78813616 single base substitution T A intron_variant PRAD-CA 17 78814328 78814328 single base substitution A T intron_variant PRAD-CA 17 78815099 78815099 single base substitution A T intron_variant PRAD-CA 17 78815389 78815389 single base substitution C A intron_variant PRAD-CA 17 78841689 78841689 single base substitution G A intron_variant PRAD-CA 17 78849723 78849723 single base substitution G T intron_variant PRAD-CA 17 78855749 78855749 single base substitution A T intron_variant PRAD-CA 17 78862759 78862759 single base substitution G T intron_variant PRAD-CA 17 78885791 78885791 single base substitution G A downstream_gene_variant PRAD-CA 17 78885791 78885791 single base substitution G A intron_variant PRAD-CA 17 78891741 78891741 single base substitution C T intron_variant PRAD-CA 17 78891741 78891741 single base substitution C T upstream_gene_variant PRAD-CA 17 78892348 78892348 single base substitution A G intron_variant PRAD-CA 17 78892348 78892348 single base substitution A G upstream_gene_variant PRAD-CA 17 78892795 78892795 single base substitution G C intron_variant PRAD-CA 17 78892795 78892795 single base substitution G C upstream_gene_variant PRAD-CA 17 78897733 78897733 single base substitution T A intron_variant PRAD-CA 17 78897733 78897733 single base substitution T A missense_variant L183Q 548T>A PRAD-CA 17 78901414 78901414 single base substitution C G downstream_gene_variant PRAD-CA 17 78901414 78901414 single base substitution C G intron_variant PRAD-CA 17 78902942 78902942 single base substitution A G downstream_gene_variant PRAD-CA 17 78902942 78902942 single base substitution A G intron_variant PRAD-CA 17 78903681 78903681 single base substitution T C intron_variant PRAD-CA 17 78903725 78903725 single base substitution A G intron_variant PRAD-CA 17 78913851 78913851 single base substitution G T intron_variant PRAD-CA 17 78913852 78913852 single base substitution G T intron_variant PRAD-CA 17 78917317 78917317 single base substitution A G intron_variant PRAD-CA 17 78917317 78917317 single base substitution A G upstream_gene_variant PRAD-CA 17 78921997 78921997 single base substitution G A intron_variant PRAD-CA 17 78921997 78921997 single base substitution G A upstream_gene_variant PRAD-CA 17 78924478 78924478 single base substitution A G downstream_gene_variant PRAD-CA 17 78924478 78924478 single base substitution A G intron_variant PRAD-CA 17 78925412 78925412 single base substitution G A downstream_gene_variant PRAD-CA 17 78925412 78925412 single base substitution G A intron_variant PRAD-CA 17 78937525 78937525 single base substitution C G downstream_gene_variant PRAD-CA 17 78937525 78937525 single base substitution C G intron_variant PRAD-UK 17 78513858 78513858 single base substitution C T upstream_gene_variant PRAD-UK 17 78542657 78542657 single base substitution A C intron_variant PRAD-UK 17 78548741 78548741 single base substitution G A intron_variant PRAD-UK 17 78551766 78551766 single base substitution G T intron_variant PRAD-UK 17 78556590 78556590 single base substitution C T intron_variant PRAD-UK 17 78558267 78558267 single base substitution G A intron_variant PRAD-UK 17 78558995 78559002 deletion of <=200bp TATTATTA - intron_variant PRAD-UK 17 78561925 78561925 single base substitution G A intron_variant PRAD-UK 17 78568055 78568055 single base substitution G A downstream_gene_variant PRAD-UK 17 78568055 78568055 single base substitution G A intron_variant PRAD-UK 17 78579143 78579143 single base substitution C G intron_variant PRAD-UK 17 78587661 78587661 single base substitution G A intron_variant PRAD-UK 17 78596046 78596046 deletion of <=200bp G - intron_variant PRAD-UK 17 78596719 78596719 insertion of <=200bp - A intron_variant PRAD-UK 17 78602270 78602270 single base substitution G T intron_variant PRAD-UK 17 78617737 78617737 single base substitution G A intron_variant PRAD-UK 17 78622514 78622514 single base substitution T C intron_variant PRAD-UK 17 78626583 78626583 single base substitution G T intron_variant PRAD-UK 17 78634241 78634241 single base substitution G A intron_variant PRAD-UK 17 78645119 78645119 single base substitution A T intron_variant PRAD-UK 17 78649121 78649121 single base substitution G T intron_variant PRAD-UK 17 78667143 78667143 single base substitution G A intron_variant PRAD-UK 17 78679868 78679868 single base substitution A C intron_variant PRAD-UK 17 78679868 78679868 single base substitution A C upstream_gene_variant PRAD-UK 17 78687330 78687330 insertion of <=200bp - A intron_variant PRAD-UK 17 78702520 78702520 insertion of <=200bp - T intron_variant PRAD-UK 17 78705520 78705520 single base substitution G C intron_variant PRAD-UK 17 78709714 78709714 single base substitution G A intron_variant PRAD-UK 17 78717490 78717490 single base substitution C T intron_variant PRAD-UK 17 78718702 78718702 single base substitution C T intron_variant PRAD-UK 17 78720161 78720161 single base substitution G A intron_variant PRAD-UK 17 78723233 78723233 single base substitution G A intron_variant PRAD-UK 17 78741069 78741069 single base substitution G T intron_variant PRAD-UK 17 78758378 78758378 deletion of <=200bp A - intron_variant PRAD-UK 17 78782843 78782843 single base substitution G C intron_variant PRAD-UK 17 78816727 78816727 insertion of <=200bp - C intron_variant PRAD-UK 17 78835618 78835618 single base substitution G A downstream_gene_variant PRAD-UK 17 78835618 78835618 single base substitution G A intron_variant PRAD-UK 17 78844466 78844466 single base substitution G A intron_variant PRAD-UK 17 78850545 78850545 single base substitution C T intron_variant PRAD-UK 17 78850552 78850552 single base substitution C T intron_variant PRAD-UK 17 78850847 78850847 single base substitution G T intron_variant PRAD-UK 17 78860157 78860157 single base substitution G C intron_variant PRAD-UK 17 78871329 78871329 single base substitution G A intron_variant PRAD-UK 17 78889870 78889870 single base substitution G A intron_variant PRAD-UK 17 78900057 78900057 single base substitution T A downstream_gene_variant PRAD-UK 17 78900057 78900057 single base substitution T A intron_variant PRAD-UK 17 78924861 78924897 multiple base substitution (>=2bp and <=200bp) CTAGAAGCATCCACATGTCCATGCCCAGCTGGCCCCG CAGAAGCATCCACACGTCCACACCCGGCTGGCCCCA downstream_gene_variant PRAD-UK 17 78924861 78924897 multiple base substitution (>=2bp and <=200bp) CTAGAAGCATCCACATGTCCATGCCCAGCTGGCCCCG CAGAAGCATCCACACGTCCACACCCGGCTGGCCCCA intron_variant PRAD-UK 17 78928214 78928214 single base substitution G T downstream_gene_variant PRAD-UK 17 78928214 78928214 single base substitution G T intron_variant PRAD-UK 17 78934580 78934580 single base substitution G A intron_variant PRAD-UK 17 78943841 78943841 single base substitution C G downstream_gene_variant PRAD-UK 17 78945111 78945111 single base substitution C T downstream_gene_variant PRAD-US 17 78831654 78831654 single base substitution G A 3_prime_UTR_variant PRAD-US 17 78831654 78831654 single base substitution G A exon_variant PRAD-US 17 78831654 78831654 single base substitution G A missense_variant R303Q 908G>A PRAD-US 17 78831654 78831654 single base substitution G A missense_variant R488Q 1463G>A PRAD-US 17 78857260 78857260 single base substitution C T exon_variant PRAD-US 17 78857260 78857260 single base substitution C T intron_variant PRAD-US 17 78857260 78857260 single base substitution C T synonymous_variant I542I 1626C>T READ-US 17 78857615 78857615 single base substitution G T exon_variant READ-US 17 78857615 78857615 single base substitution G T intron_variant READ-US 17 78857615 78857615 single base substitution G T missense_variant C562F 1685G>T RECA-EU 17 78520405 78520405 single base substitution T C intron_variant RECA-EU 17 78522006 78522006 single base substitution C A intron_variant RECA-EU 17 78523060 78523060 single base substitution A T intron_variant RECA-EU 17 78534439 78534439 single base substitution A T intron_variant RECA-EU 17 78549657 78549657 single base substitution T A intron_variant RECA-EU 17 78551913 78551913 single base substitution G A intron_variant RECA-EU 17 78578073 78578073 single base substitution G A intron_variant RECA-EU 17 78595754 78595754 single base substitution G A intron_variant RECA-EU 17 78603157 78603157 single base substitution T C intron_variant RECA-EU 17 78613862 78613862 single base substitution G A intron_variant RECA-EU 17 78651824 78651824 single base substitution A G intron_variant RECA-EU 17 78653668 78653668 single base substitution G T intron_variant RECA-EU 17 78657858 78657858 single base substitution C G intron_variant RECA-EU 17 78658896 78658896 single base substitution A G intron_variant RECA-EU 17 78674539 78674539 single base substitution G A intron_variant RECA-EU 17 78689678 78689678 single base substitution C T intron_variant RECA-EU 17 78690677 78690677 single base substitution G C intron_variant RECA-EU 17 78691060 78691060 single base substitution A C intron_variant RECA-EU 17 78695203 78695203 single base substitution C A intron_variant RECA-EU 17 78702926 78702926 single base substitution T G intron_variant RECA-EU 17 78704792 78704792 single base substitution G A intron_variant RECA-EU 17 78707372 78707372 single base substitution G A intron_variant RECA-EU 17 78708959 78708959 single base substitution G T intron_variant RECA-EU 17 78717879 78717879 single base substitution T C intron_variant RECA-EU 17 78718189 78718189 single base substitution G T intron_variant RECA-EU 17 78718537 78718537 single base substitution T A intron_variant RECA-EU 17 78718539 78718539 single base substitution T C intron_variant RECA-EU 17 78721563 78721563 single base substitution A T intron_variant RECA-EU 17 78725920 78725920 single base substitution G A intron_variant RECA-EU 17 78731582 78731582 single base substitution C G downstream_gene_variant RECA-EU 17 78731582 78731582 single base substitution C G intron_variant RECA-EU 17 78732565 78732565 single base substitution A G downstream_gene_variant RECA-EU 17 78732565 78732565 single base substitution A G intron_variant RECA-EU 17 78744382 78744382 single base substitution C T intron_variant RECA-EU 17 78745212 78745212 single base substitution T C intron_variant RECA-EU 17 78749056 78749056 single base substitution T C intron_variant RECA-EU 17 78751613 78751613 single base substitution C T intron_variant RECA-EU 17 78767314 78767314 single base substitution T A intron_variant RECA-EU 17 78767514 78767514 single base substitution G A intron_variant RECA-EU 17 78779943 78779943 single base substitution G A intron_variant RECA-EU 17 78784217 78784217 single base substitution G C intron_variant RECA-EU 17 78791993 78791993 single base substitution G A intron_variant RECA-EU 17 78792370 78792370 single base substitution C A intron_variant RECA-EU 17 78792766 78792766 single base substitution G A intron_variant RECA-EU 17 78804825 78804825 single base substitution T C intron_variant RECA-EU 17 78805046 78805046 single base substitution C T intron_variant RECA-EU 17 78805598 78805598 single base substitution C T intron_variant RECA-EU 17 78805605 78805605 single base substitution C G intron_variant RECA-EU 17 78805611 78805611 single base substitution G A intron_variant RECA-EU 17 78805619 78805619 single base substitution A G intron_variant RECA-EU 17 78805834 78805834 single base substitution G C intron_variant RECA-EU 17 78810548 78810548 single base substitution G T intron_variant RECA-EU 17 78814436 78814436 single base substitution G A intron_variant RECA-EU 17 78814974 78814974 single base substitution G A intron_variant RECA-EU 17 78820069 78820069 single base substitution T A intron_variant RECA-EU 17 78836454 78836454 single base substitution C T downstream_gene_variant RECA-EU 17 78836454 78836454 single base substitution C T intron_variant RECA-EU 17 78836457 78836457 single base substitution G A downstream_gene_variant RECA-EU 17 78836457 78836457 single base substitution G A intron_variant RECA-EU 17 78840298 78840298 single base substitution A G intron_variant RECA-EU 17 78858126 78858126 single base substitution G A intron_variant RECA-EU 17 78863413 78863413 single base substitution C T intron_variant RECA-EU 17 78873581 78873581 single base substitution A T intron_variant RECA-EU 17 78886870 78886870 single base substitution A C downstream_gene_variant RECA-EU 17 78886870 78886870 single base substitution A C intron_variant RECA-EU 17 78893383 78893383 single base substitution G A intron_variant RECA-EU 17 78893383 78893383 single base substitution G A upstream_gene_variant RECA-EU 17 78896345 78896345 single base substitution A T intron_variant RECA-EU 17 78896345 78896345 single base substitution A T upstream_gene_variant RECA-EU 17 78907434 78907434 single base substitution A T intron_variant RECA-EU 17 78911549 78911549 single base substitution T G intron_variant RECA-EU 17 78916030 78916030 single base substitution A G intron_variant RECA-EU 17 78916030 78916030 single base substitution A G upstream_gene_variant SKCA-BR 17 78513946 78513946 single base substitution G T upstream_gene_variant SKCA-BR 17 78514673 78514673 single base substitution A C upstream_gene_variant SKCA-BR 17 78515527 78515527 single base substitution G A upstream_gene_variant SKCA-BR 17 78519734 78519734 single base substitution C T intron_variant SKCA-BR 17 78521878 78521882 deletion of <=200bp CTTTT - intron_variant SKCA-BR 17 78526831 78526831 single base substitution C T intron_variant SKCA-BR 17 78528542 78528542 insertion of <=200bp - TCAAAA intron_variant SKCA-BR 17 78529819 78529819 insertion of <=200bp - GT intron_variant SKCA-BR 17 78530300 78530300 single base substitution T C intron_variant SKCA-BR 17 78530411 78530411 single base substitution T G intron_variant SKCA-BR 17 78530747 78530747 single base substitution T A intron_variant SKCA-BR 17 78532312 78532312 single base substitution C T intron_variant SKCA-BR 17 78532321 78532321 single base substitution G A intron_variant SKCA-BR 17 78535041 78535063 deletion of <=200bp ATATATATATGTATATATATATG - intron_variant SKCA-BR 17 78538558 78538558 single base substitution C T intron_variant SKCA-BR 17 78542445 78542445 single base substitution T G intron_variant SKCA-BR 17 78542856 78542856 single base substitution C T intron_variant SKCA-BR 17 78545035 78545035 single base substitution C T intron_variant SKCA-BR 17 78545546 78545546 single base substitution C T intron_variant SKCA-BR 17 78545547 78545547 single base substitution C T intron_variant SKCA-BR 17 78553480 78553480 single base substitution A T intron_variant SKCA-BR 17 78554799 78554799 single base substitution C T intron_variant SKCA-BR 17 78557726 78557726 single base substitution T G intron_variant SKCA-BR 17 78563195 78563195 single base substitution C T intron_variant SKCA-BR 17 78563394 78563394 single base substitution C T intron_variant SKCA-BR 17 78564392 78564392 single base substitution G A intron_variant SKCA-BR 17 78564395 78564395 single base substitution C T intron_variant SKCA-BR 17 78565599 78565599 single base substitution G A intron_variant SKCA-BR 17 78567045 78567045 single base substitution A G intron_variant SKCA-BR 17 78567045 78567045 single base substitution A G splice_region_variant SKCA-BR 17 78569562 78569562 single base substitution A G downstream_gene_variant SKCA-BR 17 78569562 78569562 single base substitution A G intron_variant SKCA-BR 17 78569566 78569566 single base substitution T G downstream_gene_variant SKCA-BR 17 78569566 78569566 single base substitution T G intron_variant SKCA-BR 17 78572149 78572149 single base substitution G A downstream_gene_variant SKCA-BR 17 78572149 78572149 single base substitution G A intron_variant SKCA-BR 17 78572682 78572682 insertion of <=200bp - TTCTTTCTATCTA intron_variant SKCA-BR 17 78575355 78575355 single base substitution C T intron_variant SKCA-BR 17 78575356 78575356 insertion of <=200bp - TTC intron_variant SKCA-BR 17 78575358 78575358 single base substitution T C intron_variant SKCA-BR 17 78575363 78575363 single base substitution T C intron_variant SKCA-BR 17 78576299 78576299 single base substitution T G intron_variant SKCA-BR 17 78577558 78577558 single base substitution T C intron_variant SKCA-BR 17 78579215 78579215 single base substitution T G intron_variant SKCA-BR 17 78581982 78581982 single base substitution C T intron_variant SKCA-BR 17 78587493 78587493 single base substitution G A intron_variant SKCA-BR 17 78587899 78587899 single base substitution C T intron_variant SKCA-BR 17 78589077 78589077 single base substitution C T intron_variant SKCA-BR 17 78590472 78590472 single base substitution G C intron_variant SKCA-BR 17 78590880 78590880 single base substitution C T intron_variant SKCA-BR 17 78591820 78591820 single base substitution A G intron_variant SKCA-BR 17 78591827 78591827 single base substitution G C intron_variant SKCA-BR 17 78598404 78598404 single base substitution G A intron_variant SKCA-BR 17 78603301 78603301 single base substitution A G intron_variant SKCA-BR 17 78603459 78603459 single base substitution C T intron_variant SKCA-BR 17 78603594 78603598 deletion of <=200bp GTCTC - intron_variant SKCA-BR 17 78605055 78605055 single base substitution C T intron_variant SKCA-BR 17 78608105 78608105 single base substitution G A intron_variant SKCA-BR 17 78608157 78608172 deletion of <=200bp CTGTGTGTGCATACTG - intron_variant SKCA-BR 17 78608209 78608209 single base substitution T C intron_variant SKCA-BR 17 78608410 78608410 insertion of <=200bp - TGTGC intron_variant SKCA-BR 17 78615524 78615524 single base substitution A T intron_variant SKCA-BR 17 78618106 78618106 insertion of <=200bp - GA intron_variant SKCA-BR 17 78618107 78618107 single base substitution G T intron_variant SKCA-BR 17 78619779 78619779 single base substitution C T intron_variant SKCA-BR 17 78623070 78623070 single base substitution C T intron_variant SKCA-BR 17 78623804 78623804 single base substitution C T intron_variant SKCA-BR 17 78625616 78625616 single base substitution G A intron_variant SKCA-BR 17 78635988 78635988 single base substitution C T intron_variant SKCA-BR 17 78637011 78637011 single base substitution C T intron_variant SKCA-BR 17 78637352 78637352 single base substitution C T intron_variant SKCA-BR 17 78639136 78639138 deletion of <=200bp TCC - intron_variant SKCA-BR 17 78639148 78639148 single base substitution C T intron_variant SKCA-BR 17 78639163 78639163 single base substitution C A intron_variant SKCA-BR 17 78639285 78639306 deletion of <=200bp TTCCTTTCCTTTCCTTTCCATG - intron_variant SKCA-BR 17 78639304 78639304 single base substitution A T intron_variant SKCA-BR 17 78645414 78645414 single base substitution C T intron_variant SKCA-BR 17 78645864 78645864 single base substitution C T intron_variant SKCA-BR 17 78647239 78647239 single base substitution C T intron_variant SKCA-BR 17 78652575 78652575 single base substitution A G intron_variant SKCA-BR 17 78653029 78653029 single base substitution A C intron_variant SKCA-BR 17 78653354 78653354 single base substitution C T intron_variant SKCA-BR 17 78653814 78653814 single base substitution C T intron_variant SKCA-BR 17 78654621 78654621 single base substitution G T intron_variant SKCA-BR 17 78655364 78655390 deletion of <=200bp TTCTCTTACACCTTCATGAGGTGTACG - intron_variant SKCA-BR 17 78655452 78655452 single base substitution C G intron_variant SKCA-BR 17 78655587 78655613 deletion of <=200bp ATGAGGTGTACGTCTCTTACACCTTCT - intron_variant SKCA-BR 17 78655613 78655613 single base substitution T A intron_variant SKCA-BR 17 78655917 78655917 insertion of <=200bp - CCT intron_variant SKCA-BR 17 78658204 78658208 deletion of <=200bp GTTTA - intron_variant SKCA-BR 17 78659427 78659427 insertion of <=200bp - ATAT intron_variant SKCA-BR 17 78659431 78659431 single base substitution T A intron_variant SKCA-BR 17 78659436 78659436 insertion of <=200bp - TTA intron_variant SKCA-BR 17 78659438 78659438 single base substitution T A intron_variant SKCA-BR 17 78659439 78659439 single base substitution T A intron_variant SKCA-BR 17 78659443 78659443 single base substitution T A intron_variant SKCA-BR 17 78659446 78659446 single base substitution T A intron_variant SKCA-BR 17 78660042 78660042 single base substitution G A intron_variant SKCA-BR 17 78661302 78661303 deletion of <=200bp AT - intron_variant SKCA-BR 17 78661306 78661306 single base substitution A C intron_variant SKCA-BR 17 78663301 78663301 single base substitution G A intron_variant SKCA-BR 17 78664417 78664417 single base substitution C T intron_variant SKCA-BR 17 78664602 78664602 single base substitution C T intron_variant SKCA-BR 17 78667044 78667044 single base substitution C T intron_variant SKCA-BR 17 78672103 78672103 single base substitution A C intron_variant SKCA-BR 17 78673558 78673558 single base substitution G A intron_variant SKCA-BR 17 78674016 78674016 single base substitution T G intron_variant SKCA-BR 17 78674281 78674281 single base substitution A G intron_variant SKCA-BR 17 78674480 78674480 single base substitution A T intron_variant SKCA-BR 17 78674509 78674509 single base substitution A G intron_variant SKCA-BR 17 78674557 78674557 single base substitution A G intron_variant SKCA-BR 17 78674581 78674581 single base substitution A G intron_variant SKCA-BR 17 78674620 78674620 single base substitution A G intron_variant SKCA-BR 17 78676038 78676038 single base substitution G T intron_variant SKCA-BR 17 78677875 78677875 single base substitution C T intron_variant SKCA-BR 17 78677875 78677875 single base substitution C T upstream_gene_variant SKCA-BR 17 78678045 78678045 single base substitution C T intron_variant SKCA-BR 17 78678045 78678045 single base substitution C T upstream_gene_variant SKCA-BR 17 78679100 78679100 single base substitution A G intron_variant SKCA-BR 17 78679100 78679100 single base substitution A G upstream_gene_variant SKCA-BR 17 78682414 78682414 single base substitution G T intron_variant SKCA-BR 17 78682414 78682414 single base substitution G T upstream_gene_variant SKCA-BR 17 78683581 78683581 single base substitution T C intron_variant SKCA-BR 17 78684367 78684371 deletion of <=200bp TTGTA - intron_variant SKCA-BR 17 78685574 78685574 single base substitution C G intron_variant SKCA-BR 17 78685792 78685792 single base substitution C T intron_variant SKCA-BR 17 78686311 78686311 single base substitution A T intron_variant SKCA-BR 17 78689864 78689864 single base substitution T A intron_variant SKCA-BR 17 78694997 78694997 single base substitution C T intron_variant SKCA-BR 17 78695411 78695411 single base substitution C T intron_variant SKCA-BR 17 78695872 78695872 single base substitution T A intron_variant SKCA-BR 17 78698451 78698451 single base substitution C A intron_variant SKCA-BR 17 78702246 78702246 insertion of <=200bp - GGTGTGTGTGTGTGTGTGT intron_variant SKCA-BR 17 78703505 78703505 single base substitution G T intron_variant SKCA-BR 17 78709347 78709347 single base substitution C T intron_variant SKCA-BR 17 78711397 78711397 single base substitution C T intron_variant SKCA-BR 17 78711609 78711609 single base substitution G C intron_variant SKCA-BR 17 78712977 78712977 single base substitution C T intron_variant SKCA-BR 17 78712977 78712977 single base substitution C T upstream_gene_variant SKCA-BR 17 78712987 78712987 insertion of <=200bp - CG intron_variant SKCA-BR 17 78712987 78712987 insertion of <=200bp - CG upstream_gene_variant SKCA-BR 17 78712990 78712990 single base substitution A G intron_variant SKCA-BR 17 78712990 78712990 single base substitution A G upstream_gene_variant SKCA-BR 17 78717511 78717511 single base substitution T A intron_variant SKCA-BR 17 78717513 78717513 single base substitution T C intron_variant SKCA-BR 17 78717519 78717519 single base substitution C T intron_variant SKCA-BR 17 78717528 78717528 single base substitution C G intron_variant SKCA-BR 17 78717564 78717582 deletion of <=200bp CTCTCCTGGTTACTAGCAG - intron_variant SKCA-BR 17 78717566 78717566 single base substitution C A intron_variant SKCA-BR 17 78717573 78717591 deletion of <=200bp TTACTAGCAGAGCCCTGGC - intron_variant SKCA-BR 17 78717600 78717600 single base substitution C G intron_variant SKCA-BR 17 78717601 78717601 single base substitution A T intron_variant SKCA-BR 17 78717603 78717603 single base substitution C T intron_variant SKCA-BR 17 78717627 78717627 single base substitution C T intron_variant SKCA-BR 17 78717681 78717681 single base substitution C T intron_variant SKCA-BR 17 78717783 78717801 deletion of <=200bp TCCTGGTTATGAGCACAGC - intron_variant SKCA-BR 17 78717801 78717801 single base substitution C T intron_variant SKCA-BR 17 78717817 78717817 single base substitution A T intron_variant SKCA-BR 17 78717835 78717835 single base substitution A T intron_variant SKCA-BR 17 78717865 78717883 deletion of <=200bp TAGCACTGTCCTGGTTACG - intron_variant SKCA-BR 17 78717871 78717871 single base substitution T A intron_variant SKCA-BR 17 78717907 78717907 single base substitution A T intron_variant SKCA-BR 17 78717909 78717909 single base substitution C T intron_variant SKCA-BR 17 78717955 78717955 single base substitution T G intron_variant SKCA-BR 17 78718016 78718016 single base substitution G A intron_variant SKCA-BR 17 78718053 78718071 deletion of <=200bp TCCTGGCTACTAGCACAGC - intron_variant SKCA-BR 17 78718138 78718138 single base substitution C T intron_variant SKCA-BR 17 78718221 78718221 single base substitution C T intron_variant SKCA-BR 17 78718287 78718305 deletion of <=200bp CCCTGGCTACTAGCACTGT - intron_variant SKCA-BR 17 78718311 78718311 single base substitution T C intron_variant SKCA-BR 17 78718311 78718329 deletion of <=200bp TTACGAGCACAGCCCTGGC - intron_variant SKCA-BR 17 78718537 78718537 single base substitution T A intron_variant SKCA-BR 17 78718617 78718617 single base substitution C T intron_variant SKCA-BR 17 78718629 78718647 deletion of <=200bp CCCTGGTTACTAGCACTGT - intron_variant SKCA-BR 17 78718675 78718675 single base substitution G T intron_variant SKCA-BR 17 78718727 78718727 single base substitution A G intron_variant SKCA-BR 17 78718735 78718735 single base substitution A T intron_variant SKCA-BR 17 78718737 78718737 single base substitution C T intron_variant SKCA-BR 17 78719275 78719275 single base substitution T G intron_variant SKCA-BR 17 78720542 78720542 single base substitution G A intron_variant SKCA-BR 17 78721732 78721732 single base substitution A G intron_variant SKCA-BR 17 78721739 78721739 single base substitution A G intron_variant SKCA-BR 17 78728694 78728694 single base substitution C T downstream_gene_variant SKCA-BR 17 78728694 78728694 single base substitution C T intron_variant SKCA-BR 17 78730815 78730815 single base substitution G A downstream_gene_variant SKCA-BR 17 78730815 78730815 single base substitution G A intron_variant SKCA-BR 17 78731725 78731725 single base substitution C T downstream_gene_variant SKCA-BR 17 78731725 78731725 single base substitution C T intron_variant SKCA-BR 17 78735838 78735838 single base substitution G A intron_variant SKCA-BR 17 78737391 78737391 single base substitution C T intron_variant SKCA-BR 17 78737494 78737494 single base substitution C T intron_variant SKCA-BR 17 78737917 78737917 insertion of <=200bp - GTTATT intron_variant SKCA-BR 17 78737917 78737932 deletion of <=200bp GTTATTTTATTTTATT - intron_variant SKCA-BR 17 78739577 78739577 single base substitution C T intron_variant SKCA-BR 17 78739672 78739672 single base substitution G A intron_variant SKCA-BR 17 78748902 78748902 single base substitution T C intron_variant SKCA-BR 17 78750365 78750365 single base substitution C T intron_variant SKCA-BR 17 78751347 78751347 insertion of <=200bp - GT intron_variant SKCA-BR 17 78753712 78753712 single base substitution C T intron_variant SKCA-BR 17 78759739 78759739 single base substitution A C intron_variant SKCA-BR 17 78764893 78764893 single base substitution C T intron_variant SKCA-BR 17 78770152 78770152 single base substitution T C intron_variant SKCA-BR 17 78770385 78770385 single base substitution T C intron_variant SKCA-BR 17 78770624 78770624 single base substitution G C intron_variant SKCA-BR 17 78774203 78774203 single base substitution G A intron_variant SKCA-BR 17 78775489 78775489 single base substitution T G intron_variant SKCA-BR 17 78777146 78777146 single base substitution C T intron_variant SKCA-BR 17 78777147 78777147 single base substitution C T intron_variant SKCA-BR 17 78781116 78781116 single base substitution C T intron_variant SKCA-BR 17 78782488 78782488 single base substitution C T intron_variant SKCA-BR 17 78782741 78782741 single base substitution C T intron_variant SKCA-BR 17 78783153 78783153 single base substitution A C intron_variant SKCA-BR 17 78783186 78783186 single base substitution T G intron_variant SKCA-BR 17 78785452 78785452 single base substitution C A intron_variant SKCA-BR 17 78785502 78785502 single base substitution A C intron_variant SKCA-BR 17 78785519 78785519 single base substitution A C intron_variant SKCA-BR 17 78789512 78789512 single base substitution G A intron_variant SKCA-BR 17 78789518 78789518 single base substitution G A intron_variant SKCA-BR 17 78791354 78791354 single base substitution C T intron_variant SKCA-BR 17 78791827 78791827 single base substitution A C intron_variant SKCA-BR 17 78795457 78795457 single base substitution T C intron_variant SKCA-BR 17 78796441 78796441 single base substitution T C intron_variant SKCA-BR 17 78798972 78798972 single base substitution C T downstream_gene_variant SKCA-BR 17 78798972 78798972 single base substitution C T intron_variant SKCA-BR 17 78801228 78801228 single base substitution A C downstream_gene_variant SKCA-BR 17 78801228 78801228 single base substitution A C intron_variant SKCA-BR 17 78804092 78804092 single base substitution A C intron_variant SKCA-BR 17 78805653 78805653 insertion of <=200bp - GTCACTGTGTA intron_variant SKCA-BR 17 78806916 78806916 insertion of <=200bp - GC intron_variant SKCA-BR 17 78809425 78809425 single base substitution C T intron_variant SKCA-BR 17 78812533 78812533 single base substitution A G intron_variant SKCA-BR 17 78813347 78813347 single base substitution C T intron_variant SKCA-BR 17 78814694 78814694 single base substitution A T intron_variant SKCA-BR 17 78814957 78814957 insertion of <=200bp - GGCAGCTCACACTCACCACACA intron_variant SKCA-BR 17 78814967 78814967 single base substitution T A intron_variant SKCA-BR 17 78814988 78814988 single base substitution A T intron_variant SKCA-BR 17 78815041 78815041 single base substitution G C intron_variant SKCA-BR 17 78815062 78815062 single base substitution C G intron_variant SKCA-BR 17 78815079 78815079 single base substitution G A intron_variant SKCA-BR 17 78815604 78815604 single base substitution A T intron_variant SKCA-BR 17 78816133 78816134 deletion of <=200bp AT - intron_variant SKCA-BR 17 78817230 78817230 single base substitution T A intron_variant SKCA-BR 17 78818771 78818771 single base substitution T G intron_variant SKCA-BR 17 78818776 78818776 insertion of <=200bp - GTTT intron_variant SKCA-BR 17 78819088 78819088 single base substitution C T intron_variant SKCA-BR 17 78819089 78819089 single base substitution C T intron_variant SKCA-BR 17 78822785 78822785 single base substitution C T intron_variant SKCA-BR 17 78828266 78828266 single base substitution T G intron_variant SKCA-BR 17 78828966 78828966 single base substitution C T intron_variant SKCA-BR 17 78828991 78828991 single base substitution T C intron_variant SKCA-BR 17 78829988 78829988 single base substitution C T intron_variant SKCA-BR 17 78834776 78834776 single base substitution C T downstream_gene_variant SKCA-BR 17 78834776 78834776 single base substitution C T intron_variant SKCA-BR 17 78837651 78837651 single base substitution T G intron_variant SKCA-BR 17 78837996 78837996 single base substitution A G intron_variant SKCA-BR 17 78838906 78838906 single base substitution T A intron_variant SKCA-BR 17 78841688 78841688 single base substitution C T intron_variant SKCA-BR 17 78843139 78843139 single base substitution C T intron_variant SKCA-BR 17 78844667 78844667 single base substitution A T intron_variant SKCA-BR 17 78845762 78845762 single base substitution C T intron_variant SKCA-BR 17 78846799 78846799 single base substitution C T intron_variant SKCA-BR 17 78846826 78846826 single base substitution C T intron_variant SKCA-BR 17 78848856 78848856 single base substitution T C intron_variant SKCA-BR 17 78850099 78850100 deletion of <=200bp CA - intron_variant SKCA-BR 17 78851447 78851447 single base substitution C T intron_variant SKCA-BR 17 78852760 78852760 single base substitution C T intron_variant SKCA-BR 17 78856179 78856179 single base substitution C T intron_variant SKCA-BR 17 78856414 78856414 single base substitution C T intron_variant SKCA-BR 17 78856967 78856967 single base substitution C T intron_variant SKCA-BR 17 78856968 78856968 single base substitution C T intron_variant SKCA-BR 17 78859894 78859894 single base substitution C T intron_variant SKCA-BR 17 78861861 78861861 single base substitution C T intron_variant SKCA-BR 17 78862648 78862648 single base substitution G A intron_variant SKCA-BR 17 78863770 78863770 single base substitution C T intron_variant SKCA-BR 17 78864685 78864685 single base substitution C T intron_variant SKCA-BR 17 78865824 78865824 single base substitution A G intron_variant SKCA-BR 17 78868116 78868116 single base substitution C T intron_variant SKCA-BR 17 78869172 78869172 single base substitution C T intron_variant SKCA-BR 17 78870020 78870020 single base substitution A C intron_variant SKCA-BR 17 78870166 78870166 single base substitution C G intron_variant SKCA-BR 17 78870185 78870185 single base substitution T G intron_variant SKCA-BR 17 78870187 78870187 single base substitution G A intron_variant SKCA-BR 17 78870189 78870189 single base substitution T C intron_variant SKCA-BR 17 78870227 78870235 deletion of <=200bp GCCAACACC - intron_variant SKCA-BR 17 78872869 78872869 single base substitution C T intron_variant SKCA-BR 17 78878274 78878274 single base substitution T C intron_variant SKCA-BR 17 78880623 78880623 single base substitution C T intron_variant SKCA-BR 17 78882749 78882749 single base substitution C T intron_variant SKCA-BR 17 78886904 78886904 single base substitution C T downstream_gene_variant SKCA-BR 17 78886904 78886904 single base substitution C T intron_variant SKCA-BR 17 78888062 78888062 single base substitution T G downstream_gene_variant SKCA-BR 17 78888062 78888062 single base substitution T G intron_variant SKCA-BR 17 78888076 78888076 single base substitution T C downstream_gene_variant SKCA-BR 17 78888076 78888076 single base substitution T C intron_variant SKCA-BR 17 78888097 78888097 single base substitution A C downstream_gene_variant SKCA-BR 17 78888097 78888097 single base substitution A C intron_variant SKCA-BR 17 78888324 78888324 single base substitution C T downstream_gene_variant SKCA-BR 17 78888324 78888324 single base substitution C T intron_variant SKCA-BR 17 78889006 78889006 single base substitution G A intron_variant SKCA-BR 17 78889167 78889167 single base substitution G A intron_variant SKCA-BR 17 78889274 78889274 single base substitution G A intron_variant SKCA-BR 17 78889562 78889562 single base substitution C T intron_variant SKCA-BR 17 78889573 78889573 single base substitution A C intron_variant SKCA-BR 17 78889573 78889573 single base substitution A T intron_variant SKCA-BR 17 78889604 78889604 single base substitution C T intron_variant SKCA-BR 17 78889623 78889623 single base substitution G A intron_variant SKCA-BR 17 78891318 78891318 single base substitution C T intron_variant SKCA-BR 17 78892218 78892245 deletion of <=200bp GGTCATAGCCACGAGCACCCTCGCCGGA - intron_variant SKCA-BR 17 78892218 78892245 deletion of <=200bp GGTCATAGCCACGAGCACCCTCGCCGGA - upstream_gene_variant SKCA-BR 17 78892269 78892269 single base substitution C G intron_variant SKCA-BR 17 78892269 78892269 single base substitution C G upstream_gene_variant SKCA-BR 17 78892283 78892283 single base substitution C T intron_variant SKCA-BR 17 78892283 78892283 single base substitution C T upstream_gene_variant SKCA-BR 17 78892296 78892296 single base substitution G C intron_variant SKCA-BR 17 78892296 78892296 single base substitution G C upstream_gene_variant SKCA-BR 17 78892299 78892299 single base substitution G A intron_variant SKCA-BR 17 78892299 78892299 single base substitution G A upstream_gene_variant SKCA-BR 17 78892321 78892348 deletion of <=200bp GCGGGGGTCATAGCCATGAGCACCCTCA - intron_variant SKCA-BR 17 78892321 78892348 deletion of <=200bp GCGGGGGTCATAGCCATGAGCACCCTCA - upstream_gene_variant SKCA-BR 17 78892337 78892337 single base substitution T C intron_variant SKCA-BR 17 78892337 78892337 single base substitution T C upstream_gene_variant SKCA-BR 17 78892348 78892348 single base substitution A G intron_variant SKCA-BR 17 78892348 78892348 single base substitution A G upstream_gene_variant SKCA-BR 17 78893159 78893159 single base substitution C T intron_variant SKCA-BR 17 78893159 78893159 single base substitution C T upstream_gene_variant SKCA-BR 17 78893276 78893276 single base substitution G A intron_variant SKCA-BR 17 78893276 78893276 single base substitution G A upstream_gene_variant SKCA-BR 17 78895555 78895555 single base substitution C T intron_variant SKCA-BR 17 78895555 78895555 single base substitution C T upstream_gene_variant SKCA-BR 17 78904247 78904248 deletion of <=200bp CT - intron_variant SKCA-BR 17 78905751 78905751 single base substitution T G intron_variant SKCA-BR 17 78905946 78905946 insertion of <=200bp - CATATATATAT intron_variant SKCA-BR 17 78906689 78906689 single base substitution C T intron_variant SKCA-BR 17 78911670 78911670 single base substitution C T intron_variant SKCA-BR 17 78912389 78912389 single base substitution G A intron_variant SKCA-BR 17 78915130 78915130 single base substitution A G intron_variant SKCA-BR 17 78915130 78915130 single base substitution A G upstream_gene_variant SKCA-BR 17 78919527 78919527 single base substitution T A exon_variant SKCA-BR 17 78919527 78919527 single base substitution T A missense_variant V1029E 3086T>A SKCA-BR 17 78919527 78919527 single base substitution T A missense_variant V871E 2612T>A SKCA-BR 17 78919527 78919527 single base substitution T A upstream_gene_variant SKCA-BR 17 78921101 78921101 single base substitution C T exon_variant SKCA-BR 17 78921101 78921101 single base substitution C T missense_variant A1072V 3215C>T SKCA-BR 17 78921101 78921101 single base substitution C T missense_variant A914V 2741C>T SKCA-BR 17 78921101 78921101 single base substitution C T upstream_gene_variant SKCA-BR 17 78921922 78921922 single base substitution A G intron_variant SKCA-BR 17 78921922 78921922 single base substitution A G upstream_gene_variant SKCA-BR 17 78923485 78923485 single base substitution T C downstream_gene_variant SKCA-BR 17 78923485 78923485 single base substitution T C intron_variant SKCA-BR 17 78924055 78924055 single base substitution A C downstream_gene_variant SKCA-BR 17 78924055 78924055 single base substitution A C intron_variant SKCA-BR 17 78924108 78924108 single base substitution C T downstream_gene_variant SKCA-BR 17 78924108 78924108 single base substitution C T intron_variant SKCA-BR 17 78925658 78925658 single base substitution C T downstream_gene_variant SKCA-BR 17 78925658 78925658 single base substitution C T intron_variant SKCA-BR 17 78927193 78927193 single base substitution C T downstream_gene_variant SKCA-BR 17 78927193 78927193 single base substitution C T intron_variant SKCA-BR 17 78929810 78929810 single base substitution A T intron_variant SKCA-BR 17 78931192 78931192 single base substitution T C intron_variant SKCA-BR 17 78932003 78932003 insertion of <=200bp - CA intron_variant SKCA-BR 17 78932004 78932004 single base substitution C A intron_variant SKCA-BR 17 78932415 78932415 single base substitution G A intron_variant SKCA-BR 17 78936971 78936971 single base substitution C T downstream_gene_variant SKCA-BR 17 78936971 78936971 single base substitution C T intron_variant SKCA-BR 17 78937203 78937226 deletion of <=200bp GTGCGGCCCTCACCCCGTCCCCTC - downstream_gene_variant SKCA-BR 17 78937203 78937226 deletion of <=200bp GTGCGGCCCTCACCCCGTCCCCTC - intron_variant SKCA-BR 17 78937571 78937571 single base substitution C G downstream_gene_variant SKCA-BR 17 78937571 78937571 single base substitution C G intron_variant SKCA-BR 17 78937614 78937614 single base substitution G C downstream_gene_variant SKCA-BR 17 78937614 78937614 single base substitution G C intron_variant SKCA-BR 17 78937998 78937998 single base substitution C T downstream_gene_variant SKCA-BR 17 78937998 78937998 single base substitution C T intron_variant SKCA-BR 17 78938385 78938385 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 78938385 78938385 single base substitution G A downstream_gene_variant SKCA-BR 17 78938385 78938385 single base substitution G A exon_variant SKCA-BR 17 78939471 78939471 single base substitution T G 3_prime_UTR_variant SKCA-BR 17 78939471 78939471 single base substitution T G downstream_gene_variant SKCA-BR 17 78939471 78939471 single base substitution T G exon_variant SKCA-BR 17 78939917 78939917 single base substitution A C 3_prime_UTR_variant SKCA-BR 17 78939917 78939917 single base substitution A C downstream_gene_variant SKCA-BR 17 78939917 78939917 single base substitution A C exon_variant SKCA-BR 17 78944770 78944770 single base substitution T G downstream_gene_variant SKCA-BR 17 78945027 78945027 single base substitution T C downstream_gene_variant SKCM-US 17 78599568 78599568 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 17 78599568 78599568 single base substitution C T exon_variant SKCM-US 17 78599568 78599568 single base substitution C T synonymous_variant P80P 240C>T SKCM-US 17 78599592 78599592 single base substitution C T splice_region_variant SKCM-US 17 78704442 78704442 single base substitution C T 3_prime_UTR_variant SKCM-US 17 78704442 78704442 single base substitution C T exon_variant SKCM-US 17 78704442 78704442 single base substitution C T missense_variant S12F 35C>T SKCM-US 17 78704442 78704442 single base substitution C T missense_variant S197F 590C>T SKCM-US 17 78704470 78704470 single base substitution C A 3_prime_UTR_variant SKCM-US 17 78704470 78704470 single base substitution C A exon_variant SKCM-US 17 78704470 78704470 single base substitution C A missense_variant F206L 618C>A SKCM-US 17 78704470 78704470 single base substitution C A missense_variant F21L 63C>A SKCM-US 17 78727930 78727930 single base substitution C T 3_prime_UTR_variant SKCM-US 17 78727930 78727930 single base substitution C T downstream_gene_variant SKCM-US 17 78727930 78727930 single base substitution C T exon_variant SKCM-US 17 78727930 78727930 single base substitution C T missense_variant P259S 775C>T SKCM-US 17 78727930 78727930 single base substitution C T missense_variant P74S 220C>T SKCM-US 17 78796094 78796094 single base substitution C T 3_prime_UTR_variant SKCM-US 17 78796094 78796094 single base substitution C T exon_variant SKCM-US 17 78796094 78796094 single base substitution C T synonymous_variant L143L 429C>T SKCM-US 17 78796094 78796094 single base substitution C T synonymous_variant L328L 984C>T SKCM-US 17 78796099 78796099 single base substitution G A missense_variant R145Q 434G>A SKCM-US 17 78796099 78796099 single base substitution G A missense_variant R330Q 989G>A SKCM-US 17 78796099 78796099 single base substitution G A splice_region_variant SKCM-US 17 78811795 78811795 single base substitution C T missense_variant R219W 655C>T SKCM-US 17 78811795 78811795 single base substitution C T missense_variant R404W 1210C>T SKCM-US 17 78811795 78811795 single base substitution C T splice_region_variant SKCM-US 17 78820279 78820279 single base substitution C T 3_prime_UTR_variant SKCM-US 17 78820279 78820279 single base substitution C T exon_variant SKCM-US 17 78820279 78820279 single base substitution C T missense_variant P222S 664C>T SKCM-US 17 78820279 78820279 single base substitution C T missense_variant P407S 1219C>T SKCM-US 17 78820345 78820345 single base substitution C T 3_prime_UTR_variant SKCM-US 17 78820345 78820345 single base substitution C T exon_variant SKCM-US 17 78820345 78820345 single base substitution C T missense_variant P244S 730C>T SKCM-US 17 78820345 78820345 single base substitution C T missense_variant P429S 1285C>T SKCM-US 17 78858875 78858875 single base substitution C T exon_variant SKCM-US 17 78858875 78858875 single base substitution C T intron_variant SKCM-US 17 78858875 78858875 single base substitution C T missense_variant S637F 1910C>T SKCM-US 17 78866666 78866666 single base substitution G A exon_variant SKCM-US 17 78866666 78866666 single base substitution G A missense_variant E589K 1765G>A SKCM-US 17 78866666 78866666 single base substitution G A missense_variant E747K 2239G>A SKCM-US 17 78867523 78867523 single base substitution G A exon_variant SKCM-US 17 78867523 78867523 single base substitution G A synonymous_variant A595A 1785G>A SKCM-US 17 78867523 78867523 single base substitution G A synonymous_variant A753A 2259G>A SKCM-US 17 78882720 78882720 single base substitution C T exon_variant SKCM-US 17 78882720 78882720 single base substitution C T synonymous_variant I679I 2037C>T SKCM-US 17 78882720 78882720 single base substitution C T synonymous_variant I837I 2511C>T SKCM-US 17 78897296 78897296 single base substitution C T exon_variant SKCM-US 17 78897296 78897296 single base substitution C T synonymous_variant S37S 111C>T SKCM-US 17 78897296 78897296 single base substitution C T synonymous_variant S719S 2157C>T SKCM-US 17 78897296 78897296 single base substitution C T synonymous_variant S877S 2631C>T SKCM-US 17 78897336 78897336 single base substitution G A exon_variant SKCM-US 17 78897336 78897336 single base substitution G A missense_variant D51N 151G>A SKCM-US 17 78897336 78897336 single base substitution G A missense_variant D733N 2197G>A SKCM-US 17 78897336 78897336 single base substitution G A missense_variant D891N 2671G>A SKCM-US 17 78899217 78899217 single base substitution C T downstream_gene_variant SKCM-US 17 78899217 78899217 single base substitution C T exon_variant SKCM-US 17 78899217 78899217 single base substitution C T synonymous_variant S794S 2382C>T SKCM-US 17 78899217 78899217 single base substitution C T synonymous_variant S952S 2856C>T SKCM-US 17 78919516 78919516 single base substitution C T exon_variant SKCM-US 17 78919516 78919516 single base substitution C T synonymous_variant V1025V 3075C>T SKCM-US 17 78919516 78919516 single base substitution C T synonymous_variant V867V 2601C>T SKCM-US 17 78919516 78919516 single base substitution C T upstream_gene_variant SKCM-US 17 78921039 78921039 single base substitution G A exon_variant SKCM-US 17 78921039 78921039 single base substitution G A stop_gained W1051* 3153G>A SKCM-US 17 78921039 78921039 single base substitution G A stop_gained W893* 2679G>A SKCM-US 17 78921039 78921039 single base substitution G A upstream_gene_variant SKCM-US 17 78931465 78931465 single base substitution C T exon_variant SKCM-US 17 78931465 78931465 single base substitution C T missense_variant L1138F 3412C>T SKCM-US 17 78931465 78931465 single base substitution C T missense_variant L980F 2938C>T SKCM-US 17 78931467 78931467 single base substitution C T exon_variant SKCM-US 17 78931467 78931467 single base substitution C T synonymous_variant L1138L 3414C>T SKCM-US 17 78931467 78931467 single base substitution C T synonymous_variant L980L 2940C>T SKCM-US 17 78938108 78938108 single base substitution C T downstream_gene_variant SKCM-US 17 78938108 78938108 single base substitution C T exon_variant SKCM-US 17 78938108 78938108 single base substitution C T missense_variant S1171L 3512C>T SKCM-US 17 78938108 78938108 single base substitution C T missense_variant S1329L 3986C>T STAD-US 17 78599517 78599517 single base substitution T C 5_prime_UTR_variant STAD-US 17 78599517 78599517 single base substitution T C exon_variant STAD-US 17 78599517 78599517 single base substitution T C synonymous_variant V63V 189T>C STAD-US 17 78599546 78599546 single base substitution C A 5_prime_UTR_variant STAD-US 17 78599546 78599546 single base substitution C A exon_variant STAD-US 17 78599546 78599546 single base substitution C A missense_variant P73H 218C>A STAD-US 17 78704481 78704481 single base substitution C T 3_prime_UTR_variant STAD-US 17 78704481 78704481 single base substitution C T exon_variant STAD-US 17 78704481 78704481 single base substitution C T missense_variant A210V 629C>T STAD-US 17 78704481 78704481 single base substitution C T missense_variant A25V 74C>T STAD-US 17 78727978 78727978 single base substitution C A 3_prime_UTR_variant STAD-US 17 78727978 78727978 single base substitution C A downstream_gene_variant STAD-US 17 78727978 78727978 single base substitution C A exon_variant STAD-US 17 78727978 78727978 single base substitution C A missense_variant L275M 823C>A STAD-US 17 78727978 78727978 single base substitution C A missense_variant L90M 268C>A STAD-US 17 78796081 78796081 single base substitution C T 3_prime_UTR_variant STAD-US 17 78796081 78796081 single base substitution C T exon_variant STAD-US 17 78796081 78796081 single base substitution C T missense_variant A139V 416C>T STAD-US 17 78796081 78796081 single base substitution C T missense_variant A324V 971C>T STAD-US 17 78796935 78796935 single base substitution T G 3_prime_UTR_variant STAD-US 17 78796935 78796935 single base substitution T G exon_variant STAD-US 17 78796935 78796935 single base substitution T G missense_variant F165V 493T>G STAD-US 17 78796935 78796935 single base substitution T G missense_variant F350V 1048T>G STAD-US 17 78854264 78854264 single base substitution C T exon_variant STAD-US 17 78854264 78854264 single base substitution C T intron_variant STAD-US 17 78854264 78854264 single base substitution C T missense_variant S520L 1559C>T STAD-US 17 78857671 78857671 single base substitution C T exon_variant STAD-US 17 78857671 78857671 single base substitution C T intron_variant STAD-US 17 78857671 78857671 single base substitution C T missense_variant L581F 1741C>T STAD-US 17 78857713 78857713 single base substitution G A exon_variant STAD-US 17 78857713 78857713 single base substitution G A intron_variant STAD-US 17 78857713 78857713 single base substitution G A missense_variant G595S 1783G>A STAD-US 17 78865536 78865536 single base substitution T C exon_variant STAD-US 17 78865536 78865536 single base substitution T C missense_variant L509P 1526T>C STAD-US 17 78865536 78865536 single base substitution T C missense_variant L667P 2000T>C STAD-US 17 78865556 78865556 single base substitution T C exon_variant STAD-US 17 78865556 78865556 single base substitution T C missense_variant Y516H 1546T>C STAD-US 17 78865556 78865556 single base substitution T C missense_variant Y674H 2020T>C STAD-US 17 78865595 78865595 single base substitution G T exon_variant STAD-US 17 78865595 78865595 single base substitution G T stop_gained E529* 1585G>T STAD-US 17 78865595 78865595 single base substitution G T stop_gained E687* 2059G>T STAD-US 17 78867514 78867514 single base substitution C T exon_variant STAD-US 17 78867514 78867514 single base substitution C T synonymous_variant G592G 1776C>T STAD-US 17 78867514 78867514 single base substitution C T synonymous_variant G750G 2250C>T STAD-US 17 78882649 78882649 single base substitution G T exon_variant STAD-US 17 78882649 78882649 single base substitution G T missense_variant V656F 1966G>T STAD-US 17 78882649 78882649 single base substitution G T missense_variant V814F 2440G>T STAD-US 17 78882653 78882653 single base substitution T C exon_variant STAD-US 17 78882653 78882653 single base substitution T C missense_variant L657P 1970T>C STAD-US 17 78882653 78882653 single base substitution T C missense_variant L815P 2444T>C STAD-US 17 78897301 78897301 single base substitution C T exon_variant STAD-US 17 78897301 78897301 single base substitution C T missense_variant P39L 116C>T STAD-US 17 78897301 78897301 single base substitution C T missense_variant P721L 2162C>T STAD-US 17 78897301 78897301 single base substitution C T missense_variant P879L 2636C>T STAD-US 17 78899222 78899222 single base substitution C T downstream_gene_variant STAD-US 17 78899222 78899222 single base substitution C T exon_variant STAD-US 17 78899222 78899222 single base substitution C T missense_variant T796M 2387C>T STAD-US 17 78899222 78899222 single base substitution C T missense_variant T954M 2861C>T STAD-US 17 78899241 78899241 single base substitution C T downstream_gene_variant STAD-US 17 78899241 78899241 single base substitution C T exon_variant STAD-US 17 78899241 78899241 single base substitution C T synonymous_variant C802C 2406C>T STAD-US 17 78899241 78899241 single base substitution C T synonymous_variant C960C 2880C>T STAD-US 17 78923244 78923244 single base substitution C T splice_region_variant STAD-US 17 78933961 78933961 single base substitution C T exon_variant STAD-US 17 78933961 78933961 single base substitution C T synonymous_variant D1029D 3087C>T STAD-US 17 78933961 78933961 single base substitution C T synonymous_variant D1187D 3561C>T THCA-SA 17 78811770 78811770 single base substitution G A 3_prime_UTR_variant THCA-SA 17 78811770 78811770 single base substitution G A exon_variant THCA-SA 17 78811770 78811770 single base substitution G A synonymous_variant T210T 630G>A THCA-SA 17 78811770 78811770 single base substitution G A synonymous_variant T395T 1185G>A UCEC-US 17 78617612 78617612 single base substitution T C intron_variant UCEC-US 17 78617612 78617612 single base substitution T C splice_donor_variant UCEC-US 17 78704415 78704415 single base substitution G A 3_prime_UTR_variant UCEC-US 17 78704415 78704415 single base substitution G A exon_variant UCEC-US 17 78704415 78704415 single base substitution G A missense_variant S188N 563G>A UCEC-US 17 78704415 78704415 single base substitution G A missense_variant S3N 8G>A UCEC-US 17 78704479 78704479 single base substitution C T 3_prime_UTR_variant UCEC-US 17 78704479 78704479 single base substitution C T exon_variant UCEC-US 17 78704479 78704479 single base substitution C T synonymous_variant F209F 627C>T UCEC-US 17 78704479 78704479 single base substitution C T synonymous_variant F24F 72C>T UCEC-US 17 78727893 78727893 single base substitution C T 3_prime_UTR_variant UCEC-US 17 78727893 78727893 single base substitution C T exon_variant UCEC-US 17 78727893 78727893 single base substitution C T synonymous_variant C246C 738C>T UCEC-US 17 78727893 78727893 single base substitution C T synonymous_variant C61C 183C>T UCEC-US 17 78727927 78727927 single base substitution C A 3_prime_UTR_variant UCEC-US 17 78727927 78727927 single base substitution C A downstream_gene_variant UCEC-US 17 78727927 78727927 single base substitution C A exon_variant UCEC-US 17 78727927 78727927 single base substitution C A missense_variant L258I 772C>A UCEC-US 17 78727927 78727927 single base substitution C A missense_variant L73I 217C>A UCEC-US 17 78796892 78796892 single base substitution G T 3_prime_UTR_variant UCEC-US 17 78796892 78796892 single base substitution G T exon_variant UCEC-US 17 78796892 78796892 single base substitution G T missense_variant K150N 450G>T UCEC-US 17 78796892 78796892 single base substitution G T missense_variant K335N 1005G>T UCEC-US 17 78796919 78796919 single base substitution T G 3_prime_UTR_variant UCEC-US 17 78796919 78796919 single base substitution T G exon_variant UCEC-US 17 78796919 78796919 single base substitution T G synonymous_variant A159A 477T>G UCEC-US 17 78796919 78796919 single base substitution T G synonymous_variant A344A 1032T>G UCEC-US 17 78796929 78796929 single base substitution C T 3_prime_UTR_variant UCEC-US 17 78796929 78796929 single base substitution C T exon_variant UCEC-US 17 78796929 78796929 single base substitution C T stop_gained R163* 487C>T UCEC-US 17 78796929 78796929 single base substitution C T stop_gained R348* 1042C>T UCEC-US 17 78796930 78796930 single base substitution G A 3_prime_UTR_variant UCEC-US 17 78796930 78796930 single base substitution G A exon_variant UCEC-US 17 78796930 78796930 single base substitution G A missense_variant R163Q 488G>A UCEC-US 17 78796930 78796930 single base substitution G A missense_variant R348Q 1043G>A UCEC-US 17 78811749 78811749 single base substitution C A 3_prime_UTR_variant UCEC-US 17 78811749 78811749 single base substitution C A exon_variant UCEC-US 17 78811749 78811749 single base substitution C A synonymous_variant I203I 609C>A UCEC-US 17 78811749 78811749 single base substitution C A synonymous_variant I388I 1164C>A UCEC-US 17 78811749 78811749 single base substitution C T 3_prime_UTR_variant UCEC-US 17 78811749 78811749 single base substitution C T exon_variant UCEC-US 17 78811749 78811749 single base substitution C T synonymous_variant I203I 609C>T UCEC-US 17 78811749 78811749 single base substitution C T synonymous_variant I388I 1164C>T UCEC-US 17 78857725 78857725 single base substitution A C exon_variant UCEC-US 17 78857725 78857725 single base substitution A C intron_variant UCEC-US 17 78857725 78857725 single base substitution A C missense_variant S599R 1795A>C UCEC-US 17 78914381 78914381 single base substitution C T exon_variant UCEC-US 17 78914381 78914381 single base substitution C T missense_variant A1002V 3005C>T UCEC-US 17 78914381 78914381 single base substitution C T missense_variant A844V 2531C>T UCEC-US 17 78914381 78914381 single base substitution C T upstream_gene_variant UCEC-US 17 78921118 78921118 single base substitution G A exon_variant UCEC-US 17 78921118 78921118 single base substitution G A missense_variant G1078S 3232G>A UCEC-US 17 78921118 78921118 single base substitution G A missense_variant G920S 2758G>A UCEC-US 17 78921118 78921118 single base substitution G A upstream_gene_variant UCEC-US 17 78938085 78938085 single base substitution C T downstream_gene_variant UCEC-US 17 78938085 78938085 single base substitution C T exon_variant UCEC-US 17 78938085 78938085 single base substitution C T synonymous_variant N1163N 3489C>T UCEC-US 17 78938085 78938085 single base substitution C T synonymous_variant N1321N 3963C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EB-A41A-01 COSM3523440 c.264C>T p.I88I Substitution - coding silent 17:80625792-80625792 + 41T COSM3712474 c.3550G>T p.G1184C Substitution - Missense 17:80960150-80960150 + SH-1679 COSM1387173 c.3231C>T p.N1077N Substitution - coding silent 17:80947317-80947317 + SNUH_G46_S1 COSM3680614 c.2890G>A p.A964T Substitution - Missense 17:80925451-80925451 + 66 COSM2804219 c.1093G>A p.V365I Substitution - Missense 17:80823180-80823180 + TCGA-66-2791-01 COSM708692 c.3153G>A p.W1051* Substitution - Nonsense 17:80947239-80947239 + SH-1362 COSM4417700 c.234C>G p.T78T Substitution - coding silent 17:80625762-80625762 + TCGA-60-2726-01 COSM708695 c.2171G>A p.G724E Substitution - Missense 17:80892798-80892798 + T1844 COSM4722803 c.3042C>T p.D1014D Substitution - coding silent 17:80945683-80945683 + PD13794a COSM4757960 c.3362C>T p.T1121M Substitution - Missense 17:80949539-80949539 + TCGA-BS-A0UF-01 COSM985751 c.1042C>T p.R348* Substitution - Nonsense 17:80823129-80823129 + TCGA-A2-A04P-01 COSM437757 c.2297G>C p.S766T Substitution - Missense 17:80893761-80893761 + SH-0348 COSM5019194 c.90T>C p.F30F Substitution - coding silent 17:80545719-80545719 + Pat_45_B COSM5853752 c.3371-1G>A p.? Unknown 17:80957623-80957623 + TCGA-D3-A5GU-06 COSM3523459 c.2856C>T p.S952S Substitution - coding silent 17:80925417-80925417 + LUAD-YINHD COSM388496 c.3601G>T p.E1201* Substitution - Nonsense 17:80960201-80960201 + TCGA-AP-A059-01 COSM985745 c.772C>A p.L258I Substitution - Missense 17:80754127-80754127 + TCGA-13-2057-01 COSM1324739 c.3551G>C p.G1184A Substitution - Missense 17:80960151-80960151 + TCGA-06-0158-01 COSM2150123 c.1113G>A p.P371P Substitution - coding silent 17:80823200-80823200 + TCGA-AM-5820-01 COSM1387173 c.3231C>T p.N1077N Substitution - coding silent 17:80947317-80947317 + TCGA-BR-8591-01 COSM1387170 c.2861C>T p.T954M Substitution - Missense 17:80925422-80925422 + cSCCP6 COSM137128 c.3571C>T p.R1191C Substitution - Missense 17:80960171-80960171 + NCI-H1770 COSM24247 c.2880C>T p.C960C Substitution - coding silent 17:80925441-80925441 + T4 COSM4417700 c.234C>G p.T78T Substitution - coding silent 17:80625762-80625762 + HCA46 COSM4629374 c.719G>A p.C240Y Substitution - Missense 17:80754074-80754074 + T3024 COSM4722804 c.3880G>A p.D1294N Substitution - Missense 17:80962998-80962998 + 8057714 COSM3388282 c.4000G>A p.V1334I Substitution - Missense 17:80964322-80964322 + T3454 COSM4722798 c.1511C>T p.S504L Substitution - Missense 17:80880416-80880416 + TCGA-BR-8284-01 COSM4070543 c.1741C>T p.L581F Substitution - Missense 17:80883871-80883871 + T36 COSM5343052 c.2821G>A p.A941T Substitution - Missense 17:80925382-80925382 + Pat_16_B COSM5853747 c.1146G>A p.W382* Substitution - Nonsense 17:80837931-80837931 + PD4094a COSM164104 c.15G>A p.M5I Substitution - Missense 17:80545644-80545644 + SH-5693 COSM4432611 c.1851C>T p.C617C Substitution - coding silent 17:80885016-80885016 + pfg038T COSM4757960 c.3362C>T p.T1121M Substitution - Missense 17:80949539-80949539 + 2290929 COSM4440479 c.972G>A p.A324A Substitution - coding silent 17:80822282-80822282 + SH-1641 COSM5019420 c.2094A>G p.A698A Substitution - coding silent 17:80891830-80891830 + TCGA-Q1-A73O-01 COSM4834294 c.1099A>T p.S367C Substitution - Missense 17:80823186-80823186 + TCGA-D3-A5GS-06 COSM708692 c.3153G>A p.W1051* Substitution - Nonsense 17:80947239-80947239 + LS174T COSM2804234 c.1557delG p.S520fs*15 Deletion - Frameshift 17:80880462-80880462 + CRC-19T COSM5481413 c.2363G>A p.R788H Substitution - Missense 17:80893827-80893827 + DM51 COSM5610536 c.1833C>T p.P611P Substitution - coding silent 17:80883963-80883963 + SC_9081 COSM5548447 c.3493G>A p.A1165T Substitution - Missense 17:80960093-80960093 + LUAD-5V8LT COSM401746 c.2158G>T p.V720L Substitution - Missense 17:80892785-80892785 + TCGA-AC-A23H-01 COSM3820952 c.1159G>C p.D387H Substitution - Missense 17:80837944-80837944 + TCGA-CM-4746-01 COSM1387170 c.2861C>T p.T954M Substitution - Missense 17:80925422-80925422 + S12-22512-TP COSM4991123 c.929G>A p.G310D Substitution - Missense 17:80822239-80822239 + TCGA-EE-A29V-06 COSM3523460 c.3075C>T p.V1025V Substitution - coding silent 17:80945716-80945716 + PM-7 COSM985751 c.1042C>T p.R348* Substitution - Nonsense 17:80823129-80823129 + S02294 COSM5702219 c.2521-1_2521GG>CT p.? Unknown 17:80922723-80922724 + TCGA-GL-A59T-01 COSM3989412 c.1139A>C p.Q380P Substitution - Missense 17:80837924-80837924 + CHEWS031 COSM4580232 c.2742G>A p.A914A Substitution - coding silent 17:80923607-80923607 + SH-1439 COSM1387173 c.3231C>T p.N1077N Substitution - coding silent 17:80947317-80947317 + SH-1679 COSM148370 c.1314G>A p.Q438Q Substitution - coding silent 17:80846574-80846574 + 432 COSM4433555 c.2162G>A p.S721N Substitution - Missense 17:80892789-80892789 + TCGA-EE-A2GC-06 COSM3523458 c.2671G>A p.D891N Substitution - Missense 17:80923536-80923536 + 424 COSM4432611 c.1851C>T p.C617C Substitution - coding silent 17:80885016-80885016 + TCGA-AZ-4615-01 COSM437758 c.2526C>T p.T842T Substitution - coding silent 17:80922729-80922729 + SH-0348 COSM1387173 c.3231C>T p.N1077N Substitution - coding silent 17:80947317-80947317 + TCGA-FD-A3SJ-01 COSM3796202 c.131C>G p.S44C Substitution - Missense 17:80545760-80545760 + TCGA-KK-A59V-01 COSM4878580 c.1463G>A p.R488Q Substitution - Missense 17:80857854-80857854 + LIM2099 COSM4641111 c.1758G>A p.Q586Q Substitution - coding silent 17:80883888-80883888 + DM6 COSM3523447 c.1210C>T p.R404W Substitution - Missense 17:80837995-80837995 + 234 COSM3731219 c.236C>T p.T79M Substitution - Missense 17:80625764-80625764 + T3024 COSM4722802 c.2862G>T p.T954T Substitution - coding silent 17:80925423-80925423 + SH-3458 COSM5019986 c.2649C>T p.T883T Substitution - coding silent 17:80923514-80923514 + TCGA-JW-A5VL-01 COSM4846677 c.2156C>T p.S719F Substitution - Missense 17:80892783-80892783 + TCGA-AP-A051-01 COSM985747 c.1005G>T p.K335N Substitution - Missense 17:80823092-80823092 + TARGET-20-PANLIZ-04A-02D COSM5487284 c.1230C>G p.A410A Substitution - coding silent 17:80846490-80846490 + BD72T COSM5513380 c.3965A>G p.D1322G Substitution - Missense 17:80964287-80964287 + SH-2871 COSM4417700 c.234C>G p.T78T Substitution - coding silent 17:80625762-80625762 + DM74 COSM5610538 c.484G>A p.G162R Substitution - Missense 17:80707976-80707976 + SH-3458 COSM437758 c.2526C>T p.T842T Substitution - coding silent 17:80922729-80922729 + S0080 COSM5882952 c.1387G>A p.A463T Substitution - Missense 17:80855536-80855536 + DM10 COSM5610524 c.852C>A p.V284V Substitution - coding silent 17:80791471-80791471 + TCGA-E9-A1ND-01 COSM1480151 c.2718G>A p.P906P Substitution - coding silent 17:80923583-80923583 + ATL039 COSM5706657 c.3956G>A p.G1319E Substitution - Missense 17:80964278-80964278 + TCGA-13-1477-01 COSM117764 c.3173A>C p.D1058A Substitution - Missense 17:80947259-80947259 + ESCC-154T COSM3937648 c.1647G>A p.G549G Substitution - coding silent 17:80883481-80883481 + CSCC-32-T COSM4486634 c.3080C>T p.S1027F Substitution - Missense 17:80945721-80945721 + SH-7032 COSM5019194 c.90T>C p.F30F Substitution - coding silent 17:80545719-80545719 + 113298 COSM94577 c.149G>A p.R50K Substitution - Missense 17:80545778-80545778 + TCGA-BR-7707-01 COSM4070532 c.189T>C p.V63V Substitution - coding silent 17:80625717-80625717 + SH-102782 COSM3756001 c.1518A>G p.Q506Q Substitution - coding silent 17:80880423-80880423 + TCGA-AA-3966-01 COSM273204 c.1701C>T p.N567N Substitution - coding silent 17:80883831-80883831 + Gp2D COSM4627563 c.2522C>T p.A841V Substitution - Missense 17:80922725-80922725 + S00501 COSM5658277 c.80C>A p.P27H Substitution - Missense 17:80545709-80545709 + ESCC_134 COSM4757960 c.3362C>T p.T1121M Substitution - Missense 17:80949539-80949539 + TCGA-D1-A17Q-01 COSM985749 c.1032T>G p.A344A Substitution - coding silent 17:80823119-80823119 + LUAD-NYU315 COSM373599 c.1690G>C p.E564Q Substitution - Missense 17:80883820-80883820 + TCGA-AC-A2FF-01 COSM3820956 c.2048T>C p.L683P Substitution - Missense 17:80891784-80891784 + TCGA-EE-A3AD-06 COSM3523451 c.1285C>T p.P429S Substitution - Missense 17:80846545-80846545 + LUAD-RT-S01831 COSM384331 c.382G>T p.D128Y Substitution - Missense 17:80707874-80707874 + SNU-175 COSM2804196 c.349G>A p.A117T Substitution - Missense 17:80707841-80707841 + BD135T COSM5516785 c.1962C>T p.D654D Substitution - coding silent 17:80885127-80885127 + SH-7032 COSM1387173 c.3231C>T p.N1077N Substitution - coding silent 17:80947317-80947317 + TCGA-CU-A0YO-01 COSM417931 c.546G>A p.L182L Substitution - coding silent 17:80730598-80730598 + TCGA-AA-A00D-01 COSM298270 c.126C>T p.S42S Substitution - coding silent 17:80545755-80545755 + TCGA-EE-A2GC-06 COSM3523453 c.1910C>T p.S637F Substitution - Missense 17:80885075-80885075 + TCGA-AN-A0AK-01 COSM3820957 c.2246G>T p.G749V Substitution - Missense 17:80893710-80893710 + LP2000331-DNA_A01 COSM5952507 c.2919+5G>A p.? Unknown 17:80925485-80925485 + TCGA-AZ-4615-01 COSM3756001 c.1518A>G p.Q506Q Substitution - coding silent 17:80880423-80880423 + TCGA-EA-A439-01 COSM4843665 c.1607C>T p.A536V Substitution - Missense 17:80883441-80883441 + 2334195 COSM323131 c.1402T>A p.L468M Substitution - Missense 17:80857793-80857793 + CSCC-11-T COSM4540204 c.2803G>A p.E935K Substitution - Missense 17:80923668-80923668 + SH-3327 COSM1387173 c.3231C>T p.N1077N Substitution - coding silent 17:80947317-80947317 + SNU-175 COSM2804276 c.2934C>T p.H978H Substitution - coding silent 17:80940510-80940510 + SH-1641 COSM5019194 c.90T>C p.F30F Substitution - coding silent 17:80545719-80545719 + 011T COSM1727666 c.3181C>T p.H1061Y Substitution - Missense 17:80947267-80947267 + DM55 COSM5610537 c.2142C>T p.T714T Substitution - coding silent 17:80892769-80892769 + SH-9771 COSM148370 c.1314G>A p.Q438Q Substitution - coding silent 17:80846574-80846574 + TCGA-CM-6171-01 COSM1387172 c.2989C>T p.R997C Substitution - Missense 17:80940565-80940565 + TCGA-E2-A2P6-01 COSM3820959 c.3733G>A p.E1245K Substitution - Missense 17:80962501-80962501 + PA254 COSM1162792 c.3319G>A p.E1107K Substitution - Missense 17:80949496-80949496 + TCGA-FS-A1ZZ-06 COSM3523447 c.1210C>T p.R404W Substitution - Missense 17:80837995-80837995 + HCC77T COSM1610956 c.2386C>A p.L796I Substitution - Missense 17:80893850-80893850 + TCGA-EE-A2MR-06 COSM3523462 c.3986C>T p.S1329L Substitution - Missense 17:80964308-80964308 + SNU-C4 COSM4652940 c.2301C>T p.S767S Substitution - coding silent 17:80893765-80893765 + 587220 COSM1224273 c.853A>G p.S285G Substitution - Missense 17:80791472-80791472 + 3N40-VS-3T40 COSM4981642 c.3690G>C p.V1230V Substitution - coding silent 17:80961478-80961478 + 8012352 COSM3388280 c.2532C>T p.N844N Substitution - coding silent 17:80922735-80922735 + LUAD_E00522 COSM388711 c.3487A>T p.T1163S Substitution - Missense 17:80960087-80960087 + S04-45633-TP COSM4991119 c.614C>T p.S205F Substitution - Missense 17:80730666-80730666 + CHC892T COSM4796968 c.3809+1G>A p.? Unknown 17:80962578-80962578 + SH-7282 COSM5019194 c.90T>C p.F30F Substitution - coding silent 17:80545719-80545719 + SH-5693 COSM5020455 c.3140+9C>T p.? Unknown 17:80945790-80945790 + LUAD-CHTN-MAD06-00668 COSM359143 c.3356T>A p.L1119Q Substitution - Missense 17:80949533-80949533 + KPOPBR-13-T COSM5963637 c.3588G>C p.R1196S Substitution - Missense 17:80960188-80960188 + TCGA-G3-A5SJ-01 COSM4914866 c.1685G>A p.C562Y Substitution - Missense 17:80883815-80883815 + TCGA-AP-A059-01 COSM985761 c.3005C>T p.A1002V Substitution - Missense 17:80940581-80940581 + CSCC-56-T COSM4485624 c.2953C>T p.R985C Substitution - Missense 17:80940529-80940529 + LC_S6 COSM1190922 c.2415_2416delCA p.N805fs*16 Deletion - Frameshift 17:80908824-80908825 + SKCO-1 COSM2804281 c.3106C>T p.P1036S Substitution - Missense 17:80945747-80945747 + Pat_24_B COSM5853745 c.569C>T p.S190L Substitution - Missense 17:80730621-80730621 + 409 COSM4430679 c.1840G>A p.E614K Substitution - Missense 17:80883970-80883970 + DM14 COSM5610528 c.2926G>A p.E976K Substitution - Missense 17:80940502-80940502 + SKCO-1 COSM4650149 c.3681C>T p.I1227I Substitution - coding silent 17:80961469-80961469 + TCGA-B5-A11E-01 COSM985765 c.3963C>T p.N1321N Substitution - coding silent 17:80964285-80964285 + TCGA-EE-A29E-06 COSM2804215 c.984C>T p.L328L Substitution - coding silent 17:80822294-80822294 + SH-9771 COSM5019194 c.90T>C p.F30F Substitution - coding silent 17:80545719-80545719 + TCGA-AA-3955-01 COSM297077 c.3123C>T p.A1041A Substitution - coding silent 17:80945764-80945764 + S04-45633-TP COSM4991125 c.1963G>A p.G655R Substitution - Missense 17:80885128-80885128 + PT16_1 COSM5898553 c.638G>T p.R213L Substitution - Missense 17:80730690-80730690 + 63 COSM4991127 c.2344G>A p.E782K Substitution - Missense 17:80893808-80893808 + SH-6055 COSM1387173 c.3231C>T p.N1077N Substitution - coding silent 17:80947317-80947317 + LB831-BLC COSM24245 c.2438G>A p.R813K Substitution - Missense 17:80908847-80908847 + T684 COSM4722800 c.1744G>A p.G582S Substitution - Missense 17:80883874-80883874 + SH-3458 COSM1387173 c.3231C>T p.N1077N Substitution - coding silent 17:80947317-80947317 + HCC123T COSM1610957 c.2401+2T>A p.? Unknown 17:80893867-80893867 + TCGA-D8-A1J8-01 COSM3820958 c.3430G>A p.V1144M Substitution - Missense 17:80957683-80957683 + LB831-BLC COSM24245 c.2438G>A p.R813K Substitution - Missense 17:80908847-80908847 + TCGA-B0-5098-01 COSM1494080 c.512A>C p.Y171S Substitution - Missense 17:80730564-80730564 + PTC-10C COSM4130785 c.3609C>T p.R1203R Substitution - coding silent 17:80961397-80961397 + B14-Tumor COSM3932775 c.2730C>A p.G910G Substitution - coding silent 17:80923595-80923595 + DM79 COSM5610540 c.487G>A p.E163K Substitution - Missense 17:80707979-80707979 + SH-7032 COSM148370 c.1314G>A p.Q438Q Substitution - coding silent 17:80846574-80846574 + SH-6055 COSM4417700 c.234C>G p.T78T Substitution - coding silent 17:80625762-80625762 + 8012351 COSM3388280 c.2532C>T p.N844N Substitution - coding silent 17:80922735-80922735 + CCK81 COSM2804272 c.2869A>G p.T957A Substitution - Missense 17:80925430-80925430 + CSCC-56-T COSM4479534 c.2334C>T p.I778I Substitution - coding silent 17:80893798-80893798 + 587338 COSM1224275 c.3212C>T p.T1071I Substitution - Missense 17:80947298-80947298 + TCGA-AD-6964-01 COSM1387157 c.1102C>T p.P368S Substitution - Missense 17:80823189-80823189 + TCGA-B0-5696-01 COSM473520 c.820G>A p.A274T Substitution - Missense 17:80754175-80754175 + SH-7166 COSM5019194 c.90T>C p.F30F Substitution - coding silent 17:80545719-80545719 + 49M COSM1710886 c.2152C>T p.R718C Substitution - Missense 17:80892779-80892779 + TCGA-A2-A0EY-01 COSM437759 c.3291G>A p.K1097K Substitution - coding silent 17:80949468-80949468 + CN-AML-08-T COSM5019420 c.2094A>G p.A698A Substitution - coding silent 17:80891830-80891830 + TCGA-B5-A0JY-01 COSM985755 c.1164C>A p.I388I Substitution - coding silent 17:80837949-80837949 + S00050 COSM317515 c.784C>G p.L262V Substitution - Missense 17:80754139-80754139 + TCGA-D1-A17A-01 COSM985763 c.3232G>A p.G1078S Substitution - Missense 17:80947318-80947318 + SH-5693 COSM5020443 c.3371-10A>G p.? Unknown 17:80957614-80957614 + CHEWS008 COSM4580231 c.2733C>T p.P911P Substitution - coding silent 17:80923598-80923598 + SH-7282 COSM4417700 c.234C>G p.T78T Substitution - coding silent 17:80625762-80625762 + MOLT-4 COSM1680136 c.1058C>T p.A353V Substitution - Missense 17:80823145-80823145 + TCGA-EE-A2GO-06 COSM3523441 c.590C>T p.S197F Substitution - Missense 17:80730642-80730642 + PD4178a COSM3719184 c.896C>G p.P299R Substitution - Missense 17:80822206-80822206 + SH-6055 COSM437758 c.2526C>T p.T842T Substitution - coding silent 17:80922729-80922729 + SH-5693 COSM5020339 c.3222G>A p.E1074E Substitution - coding silent 17:80947308-80947308 + TCGA-BH-A18G-01 COSM3820954 c.1279C>T p.R427* Substitution - Nonsense 17:80846539-80846539 + TCGA-ER-A19H-06 COSM3523449 c.1219C>T p.P407S Substitution - Missense 17:80846479-80846479 + SH-1362 COSM3756001 c.1518A>G p.Q506Q Substitution - coding silent 17:80880423-80880423 + TCGA-F4-6703-01 COSM1387149 c.352C>T p.R118W Substitution - Missense 17:80707844-80707844 + TCGA-22-5472-01 COSM708697 c.474C>A p.P158P Substitution - coding silent 17:80707966-80707966 + SH-3776 COSM4417700 c.234C>G p.T78T Substitution - coding silent 17:80625762-80625762 + sysucc-882T COSM5447253 c.1783G>T p.G595C Substitution - Missense 17:80883913-80883913 + Pat_24_B COSM5853753 c.3443G>A p.R1148Q Substitution - Missense 17:80957696-80957696 + CHC432T COSM4953895 c.1227C>G p.F409L Substitution - Missense 17:80846487-80846487 + AB COSM5414784 c.3307G>T p.E1103* Substitution - Nonsense 17:80949484-80949484 + SH-3776 COSM3756001 c.1518A>G p.Q506Q Substitution - coding silent 17:80880423-80880423 + Pat_41_A COSM5853754 c.3574G>A p.V1192I Substitution - Missense 17:80960174-80960174 + TCGA-D1-A16X-01 COSM985753 c.1043G>A p.R348Q Substitution - Missense 17:80823130-80823130 + TARGET-20-PANLIZ-09A-02D COSM5487284 c.1230C>G p.A410A Substitution - coding silent 17:80846490-80846490 + SH-0348 COSM437758 c.2526C>T p.T842T Substitution - coding silent 17:80922729-80922729 + TCGA-A6-5661-01 COSM1264599 c.2316C>T p.P772P Substitution - coding silent 17:80893780-80893780 + ccRCC-85 COSM1659978 c.226G>T p.V76L Substitution - Missense 17:80625754-80625754 + STC252 COSM5055864 c.900C>T p.G300G Substitution - coding silent 17:80822210-80822210 + DM93 COSM3756002 c.2010T>C p.L670L Substitution - coding silent 17:80891746-80891746 + TCGA-AG-3892-01 COSM257922 c.525C>T p.I175I Substitution - coding silent 17:80730577-80730577 + TCGA-43-6771-01 COSM708693 c.2600A>G p.K867R Substitution - Missense 17:80922803-80922803 + TCGA-AX-A064-01 COSM985739 c.563G>A p.S188N Substitution - Missense 17:80730615-80730615 + TCGA-DA-A3F5-06 COSM708696 c.989G>A p.R330Q Substitution - Missense 17:80822299-80822299 + Pat_08_A COSM5853751 c.3076_3077CC>TT p.P1026F Substitution - Missense 17:80945717-80945718 + TCGA-EE-A3JD-06 COSM4397429 c.3414C>T p.L1138L Substitution - coding silent 17:80957667-80957667 + PT52 COSM5940743 c.2471C>T p.P824L Substitution - Missense 17:80908880-80908880 + PTC-28C COSM4000341 c.3117C>T p.A1039A Substitution - coding silent 17:80945758-80945758 + 331 COSM3723431 c.1044A>G p.R348R Substitution - coding silent 17:80823131-80823131 + TCGA-06-0158 COSM2150123 c.1113G>A p.P371P Substitution - coding silent 17:80823200-80823200 + SH-5693 COSM148370 c.1314G>A p.Q438Q Substitution - coding silent 17:80846574-80846574 + SH-1439 COSM148370 c.1314G>A p.Q438Q Substitution - coding silent 17:80846574-80846574 + TCGA-CM-6171-01 COSM1387146 c.281G>A p.G94D Substitution - Missense 17:80643743-80643743 + 587278 COSM1224276 c.3124G>A p.D1042N Substitution - Missense 17:80945765-80945765 + C086 COSM5538392 c.2339C>T p.S780F Substitution - Missense 17:80893803-80893803 + TCGA-EB-A1NK-01 COSM3523439 c.240C>T p.P80P Substitution - coding silent 17:80625768-80625768 + S02256 COSM5681258 c.3430G>T p.V1144L Substitution - Missense 17:80957683-80957683 + 587336 COSM1224274 c.3442C>T p.R1148W Substitution - Missense 17:80957695-80957695 + SH-9771 COSM3756001 c.1518A>G p.Q506Q Substitution - coding silent 17:80880423-80880423 + Pat_41_B COSM5853750 c.2732C>T p.P911L Substitution - Missense 17:80923597-80923597 + TCGA-EW-A1PA-01 COSM1480150 c.1426G>T p.V476L Substitution - Missense 17:80857817-80857817 + 8044594 COSM3388281 c.3561C>T p.D1187D Substitution - coding silent 17:80960161-80960161 + SH-1679 COSM3756001 c.1518A>G p.Q506Q Substitution - coding silent 17:80880423-80880423 + TCGA-AO-A128-01 COSM3820950 c.1088C>T p.T363I Substitution - Missense 17:80823175-80823175 + LUAD-RT-S01769 COSM380917 c.269C>G p.P90R Substitution - Missense 17:80643731-80643731 + TCGA-BG-A0M4-01 COSM985737 c.348+2T>C p.? Unknown 17:80643812-80643812 + TCGA-EE-A29M-06 COSM3523457 c.2631C>T p.S877S Substitution - coding silent 17:80923496-80923496 + PD11776a COSM5024919 c.2714G>T p.R905L Substitution - Missense 17:80923579-80923579 + DM11 COSM5610526 c.1899G>A p.R633R Substitution - coding silent 17:80885064-80885064 + TCGA-E2-A574-01 COSM5833461 c.3518delC p.C1174fs*32 Deletion - Frameshift 17:80960118-80960118 + CSCC-5-T COSM4538811 c.2602G>A p.G868S Substitution - Missense 17:80922805-80922805 + STC291 COSM5055866 c.2769delC p.R925fs*48 Deletion - Frameshift 17:80923634-80923634 + TCGA-AZ-6601-01 COSM1387171 c.2879G>A p.C960Y Substitution - Missense 17:80925440-80925440 + PD3192a COSM1659113 c.921G>A p.T307T Substitution - coding silent 17:80822231-80822231 + TCGA-AA-A03F-01 COSM301136 c.902G>A p.R301H Substitution - Missense 17:80822212-80822212 + Pat_08_B COSM5853751 c.3076_3077CC>TT p.P1026F Substitution - Missense 17:80945717-80945718 + TCGA-CH-5739-01 COSM3672618 c.924C>A p.P308P Substitution - coding silent 17:80822234-80822234 + HCC53 COSM1610958 c.3478-8G>A p.? Unknown 17:80960070-80960070 + S00050 COSM317515 c.784C>G p.L262V Substitution - Missense 17:80754139-80754139 + SH-7032 COSM437758 c.2526C>T p.T842T Substitution - coding silent 17:80922729-80922729 + SH-8559 COSM1387173 c.3231C>T p.N1077N Substitution - coding silent 17:80947317-80947317 + DM37 COSM5610535 c.1554C>T p.F518F Substitution - coding silent 17:80880459-80880459 + 8030245 COSM3773336 c.1490A>T p.K497M Substitution - Missense 17:80857881-80857881 + LUAD-S01302 COSM404158 c.2638G>T p.A880S Substitution - Missense 17:80923503-80923503 + SH-7282 COSM3756001 c.1518A>G p.Q506Q Substitution - coding silent 17:80880423-80880423 + 1N05-VS-1T05 COSM4972846 c.1376T>A p.L459Q Substitution - Missense 17:80855525-80855525 + SH-3327 COSM4417700 c.234C>G p.T78T Substitution - coding silent 17:80625762-80625762 + LS411 COSM2804204 c.685G>A p.A229T Substitution - Missense 17:80754040-80754040 + LC_S12 COSM1190923 c.2897_2899delATT p.Y966delY Deletion - In frame 17:80925458-80925460 + YUKLAB COSM1710885 c.1378G>A p.G460S Substitution - Missense 17:80855527-80855527 + TCGA-BR-8680-01 COSM4070540 c.1048T>G p.F350V Substitution - Missense 17:80823135-80823135 + CHC432T COSM4953895 c.1227C>G p.F409L Substitution - Missense 17:80846487-80846487 + TCGA-CG-4474-01 COSM4070542 c.1559C>T p.S520L Substitution - Missense 17:80880464-80880464 + DM29 COSM5610534 c.429G>A p.E143E Substitution - coding silent 17:80707921-80707921 + 19685 COSM5346596 c.1071G>A p.M357I Substitution - Missense 17:80823158-80823158 + SH-7166 COSM4417700 c.234C>G p.T78T Substitution - coding silent 17:80625762-80625762 + YULONE COSM2804218 c.1076C>T p.S359L Substitution - Missense 17:80823163-80823163 + TCGA-E9-A1R7-01 COSM1480149 c.570G>T p.S190S Substitution - coding silent 17:80730622-80730622 + HCC2998 COSM1680137 c.3433C>T p.R1145W Substitution - Missense 17:80957686-80957686 + PD24205a COSM5787292 c.2243-7C>T p.? Unknown 17:80893700-80893700 + PD13630a COSM5767669 c.2899T>G p.F967V Substitution - Missense 17:80925460-80925460 + 17290 COSM48467 c.3349G>T p.D1117Y Substitution - Missense 17:80949526-80949526 + TCGA-HU-A4H8-01 COSM4070538 c.971C>T p.A324V Substitution - Missense 17:80822281-80822281 + ESO-0133 COSM1264598 c.1104G>A p.P368P Substitution - coding silent 17:80823191-80823191 + CPCG0184-P4 COSM148370 c.1314G>A p.Q438Q Substitution - coding silent 17:80846574-80846574 + Pat_44_B COSM2804256 c.2362C>T p.R788C Substitution - Missense 17:80893826-80893826 + SNUH_G45_S1 COSM4000341 c.3117C>T p.A1039A Substitution - coding silent 17:80945758-80945758 + SNUH_G76_S1 COSM4417700 c.234C>G p.T78T Substitution - coding silent 17:80625762-80625762 + TCGA-60-2709-01 COSM708694 c.2304C>T p.T768T Substitution - coding silent 17:80893768-80893768 + SH-7329 COSM3756001 c.1518A>G p.Q506Q Substitution - coding silent 17:80880423-80880423 + SH-1679 COSM437758 c.2526C>T p.T842T Substitution - coding silent 17:80922729-80922729 + RK308_C01 COSM2804286 c.3347C>T p.S1116L Substitution - Missense 17:80949524-80949524 + LIM1215 COSM4273090 c.2605G>A p.V869M Substitution - Missense 17:80922808-80922808 + PR-00-1165 COSM247125 c.3406G>A p.G1136S Substitution - Missense 17:80957659-80957659 + 2290929 COSM4440472 c.637C>T p.R213W Substitution - Missense 17:80730689-80730689 + SH-9248 COSM437758 c.2526C>T p.T842T Substitution - coding silent 17:80922729-80922729 + UMC11 COSM2804213 c.911A>T p.D304V Substitution - Missense 17:80822221-80822221 + sysucc-783T COSM5484174 c.1864G>A p.A622T Substitution - Missense 17:80885029-80885029 + CSCC-38-T COSM4473234 c.1838C>T p.P613L Substitution - Missense 17:80883968-80883968 + 548 COSM5612986 c.2270G>A p.G757E Substitution - Missense 17:80893734-80893734 + PD13630a COSM5793617 c.2904C>G p.A968A Substitution - coding silent 17:80925465-80925465 + SH-9161 COSM3756001 c.1518A>G p.Q506Q Substitution - coding silent 17:80880423-80880423 + 449 COSM4435433 c.2929G>A p.E977K Substitution - Missense 17:80940505-80940505 + OSCC-GB_00860111 COSM4885339 c.2128G>A p.D710N Substitution - Missense 17:80892755-80892755 + SNUH_G73_S1 COSM4000341 c.3117C>T p.A1039A Substitution - coding silent 17:80945758-80945758 + C008 COSM5523719 c.2909C>T p.P970L Substitution - Missense 17:80925470-80925470 + CRC-19T COSM5481414 c.2568C>T p.L856L Substitution - coding silent 17:80922771-80922771 + DM18 COSM5610529 c.2769C>T p.F923F Substitution - coding silent 17:80923634-80923634 + CPCG0184-P2 COSM148370 c.1314G>A p.Q438Q Substitution - coding silent 17:80846574-80846574 + HCC021T COSM5815753 c.960A>T p.T320T Substitution - coding silent 17:80822270-80822270 + 16929 COSM48466 c.577G>A p.V193I Substitution - Missense 17:80730629-80730629 + H2171 COSM24246 c.1996G>T p.A666S Substitution - Missense 17:80891732-80891732 + NCI-H2171 COSM24246 c.1996G>T p.A666S Substitution - Missense 17:80891732-80891732 + sysucc-1163T COSM2804225 c.1398+4C>T p.? Unknown 17:80855551-80855551 + TCGA-BT-A20U-01 COSM417930 c.3801G>C p.L1267L Substitution - coding silent 17:80962569-80962569 + TCGA-CG-4305-01 COSM4070536 c.823C>A p.L275M Substitution - Missense 17:80754178-80754178 + S03-45671-TP COSM4991129 c.3105G>A p.T1035T Substitution - coding silent 17:80945746-80945746 + SH-7329 COSM5019194 c.90T>C p.F30F Substitution - coding silent 17:80545719-80545719 + TCGA-CC-5262-01 COSM48466 c.577G>A p.V193I Substitution - Missense 17:80730629-80730629 + T2940 COSM708696 c.989G>A p.R330Q Substitution - Missense 17:80822299-80822299 + S09-31237-TP COSM4991121 c.809C>T p.P270L Substitution - Missense 17:80754164-80754164 + TCGA-IR-A3LK-01 COSM4817779 c.1095C>T p.V365V Substitution - coding silent 17:80823182-80823182 + SH-1679 COSM5019531 c.1770G>A p.S590S Substitution - coding silent 17:80883900-80883900 + TCGA-IR-A3LA-01 COSM4844783 c.1903G>A p.D635N Substitution - Missense 17:80885068-80885068 + TCGA-EE-A2MS-06 COSM3523454 c.2239G>A p.E747K Substitution - Missense 17:80892866-80892866 + TCGA-22-4604-01 COSM708696 c.989G>A p.R330Q Substitution - Missense 17:80822299-80822299 + SH-9771 COSM1387173 c.3231C>T p.N1077N Substitution - coding silent 17:80947317-80947317 + TCGA-BR-4184-01 COSM4070552 c.3267C>T p.D1089D Substitution - coding silent 17:80949444-80949444 + T2944 COSM2804294 c.3786delC p.Q1264fs*4 Deletion - Frameshift 17:80962554-80962554 + PD13793a COSM5024997 c.2996G>A p.R999K Substitution - Missense 17:80940572-80940572 + TCGA-BR-8591-01 COSM4070544 c.1783G>A p.G595S Substitution - Missense 17:80883913-80883913 + TCGA-04-1649-01 COSM1324738 c.3817G>A p.V1273I Substitution - Missense 17:80962935-80962935 + TCGA-AM-5821-01 COSM3756002 c.2010T>C p.L670L Substitution - coding silent 17:80891746-80891746 + CSCC-30-T COSM4450841 c.890+1G>A p.? Unknown 17:80791510-80791510 + TCGA-AX-A0J0-01 COSM985741 c.627C>T p.F209F Substitution - coding silent 17:80730679-80730679 + SW1222 COSM4654777 c.2870C>T p.T957M Substitution - Missense 17:80925431-80925431 + 2521259 COSM5890997 c.1584+6G>A p.? Unknown 17:80880495-80880495 + TCGA-FS-A1ZY-06 COSM3523456 c.2511C>T p.I837I Substitution - coding silent 17:80908920-80908920 + Gp2D COSM2804267 c.2747A>G p.Y916C Substitution - Missense 17:80923612-80923612 + SH-8559 COSM437758 c.2526C>T p.T842T Substitution - coding silent 17:80922729-80922729 + ICC013T COSM5814175 c.958A>G p.T320A Substitution - Missense 17:80822268-80822268 + TCGA-A6-5665-01 COSM1387173 c.3231C>T p.N1077N Substitution - coding silent 17:80947317-80947317 + SH-7329 COSM148370 c.1314G>A p.Q438Q Substitution - coding silent 17:80846574-80846574 + pfg212T COSM4757952 c.1106G>A p.R369H Substitution - Missense 17:80823193-80823193 + TCGA-D3-A1Q8-06 COSM3523455 c.2259G>A p.A753A Substitution - coding silent 17:80893723-80893723 + SH-0348 COSM148370 c.1314G>A p.Q438Q Substitution - coding silent 17:80846574-80846574 + TCGA-BR-6566-01 COSM4070547 c.2059G>T p.E687* Substitution - Nonsense 17:80891795-80891795 + DM28 COSM5610533 c.3606C>T p.C1202C Substitution - coding silent 17:80961394-80961394 + Pat_41_B COSM5853749 c.1984G>A p.E662K Substitution - Missense 17:80891720-80891720 + T3092 COSM4722801 c.2774G>A p.R925Q Substitution - Missense 17:80923639-80923639 + TCGA-BR-4201-01 COSM4070533 c.218C>A p.P73H Substitution - Missense 17:80625746-80625746 + SH-2871 COSM148370 c.1314G>A p.Q438Q Substitution - coding silent 17:80846574-80846574 + TCGA-D1-A16N-01 COSM985743 c.738C>T p.C246C Substitution - coding silent 17:80754093-80754093 + SH-3327 COSM437758 c.2526C>T p.T842T Substitution - coding silent 17:80922729-80922729 + C135 COSM4617828 c.265G>A p.D89N Substitution - Missense 17:80625793-80625793 + CRC-09T COSM5452858 c.3032C>T p.T1011M Substitution - Missense 17:80945673-80945673 + SNUH_G76_S1 COSM3756001 c.1518A>G p.Q506Q Substitution - coding silent 17:80880423-80880423 + TCGA-AM-5820-01 COSM3755999 c.1269C>T p.G423G Substitution - coding silent 17:80846529-80846529 + DM2 COSM3523454 c.2239G>A p.E747K Substitution - Missense 17:80892866-80892866 + TCGA-BR-4368-01 COSM4070550 c.2444T>C p.L815P Substitution - Missense 17:80908853-80908853 + TCGA-DY-A1DF-01 COSM1564141 c.1685G>T p.C562F Substitution - Missense 17:80883815-80883815 + TCGA-BR-4257-01 COSM4070546 c.2020T>C p.Y674H Substitution - Missense 17:80891756-80891756 + CHC892T COSM4796968 c.3809+1G>A p.? Unknown 17:80962578-80962578 + PT49 COSM5936356 c.1639C>T p.H547Y Substitution - Missense 17:80883473-80883473 + PTC-54C COSM3755999 c.1269C>T p.G423G Substitution - coding silent 17:80846529-80846529 + OSCC-GB_00410111 COSM3712474 c.3550G>T p.G1184C Substitution - Missense 17:80960150-80960150 + SH-1439 COSM437758 c.2526C>T p.T842T Substitution - coding silent 17:80922729-80922729 + TCGA-BS-A0UJ-01 COSM985759 c.1795A>C p.S599R Substitution - Missense 17:80883925-80883925 + ESCC_123 COSM5640882 c.3114C>T p.I1038I Substitution - coding silent 17:80945755-80945755 + PDA_097 COSM5003317 c.2870C>G p.T957R Substitution - Missense 17:80925431-80925431 + Gp5D COSM2804267 c.2747A>G p.Y916C Substitution - Missense 17:80923612-80923612 + SH-9771 COSM437758 c.2526C>T p.T842T Substitution - coding silent 17:80922729-80922729 + RKO COSM2804207 c.733G>A p.A245T Substitution - Missense 17:80754088-80754088 + PD9760a COSM5799260 c.1128C>G p.H376Q Substitution - Missense 17:80823215-80823215 + SH-2871 COSM5019194 c.90T>C p.F30F Substitution - coding silent 17:80545719-80545719 + TCGA-CG-5721-01 COSM24247 c.2880C>T p.C960C Substitution - coding silent 17:80925441-80925441 + NCI-H1770 COSM24247 c.2880C>T p.C960C Substitution - coding silent 17:80925441-80925441 + T12 COSM3756001 c.1518A>G p.Q506Q Substitution - coding silent 17:80880423-80880423 + TCGA-D1-A103-01 COSM985757 c.1164C>T p.I388I Substitution - coding silent 17:80837949-80837949 + TCGA-09-1669-01 COSM112085 c.660_661insG p.A221fs*41 Insertion - Frameshift 17:80754015-80754016 + B66-Tumor COSM3755999 c.1269C>T p.G423G Substitution - coding silent 17:80846529-80846529 + TCGA-HC-7749-01 COSM1470941 c.1626C>T p.I542I Substitution - coding silent 17:80883460-80883460 + TCGA-EE-A3AC-06 COSM3523461 c.3412C>T p.L1138F Substitution - Missense 17:80957665-80957665 + SH-8559 COSM5019194 c.90T>C p.F30F Substitution - coding silent 17:80545719-80545719 + J10_T COSM3958919 c.808C>G p.P270A Substitution - Missense 17:80754163-80754163 + YULLON COSM1710886 c.2152C>T p.R718C Substitution - Missense 17:80892779-80892779 + CN-AML-NR-08-Dx COSM5019420 c.2094A>G p.A698A Substitution - coding silent 17:80891830-80891830 + HNPTS_17 COSM1579117 c.1220C>T p.P407L Substitution - Missense 17:80846480-80846480 + 8057783 COSM3388278 c.1113G>T p.P371P Substitution - coding silent 17:80823200-80823200 + S02350 COSM5694701 c.2842A>T p.K948* Substitution - Nonsense 17:80925403-80925403 + TCGA-F4-6856-01 COSM1387169 c.2857G>A p.A953T Substitution - Missense 17:80925418-80925418 + TCGA-BR-4257-01 COSM4070549 c.2440G>T p.V814F Substitution - Missense 17:80908849-80908849 + 2250195 COSM5030474 c.2584G>A p.A862T Substitution - Missense 17:80922787-80922787 + LUAD-S01331 COSM404234 c.573C>T p.I191I Substitution - coding silent 17:80730625-80730625 + TCGA-DM-A1D9-01 COSM1387177 c.3757G>C p.V1253L Substitution - Missense 17:80962525-80962525 + S12-23181-TP COSM4991127 c.2344G>A p.E782K Substitution - Missense 17:80893808-80893808 + TCGA-BR-8368-01 COSM4070534 c.629C>T p.A210V Substitution - Missense 17:80730681-80730681 + SH-9248 COSM1387173 c.3231C>T p.N1077N Substitution - coding silent 17:80947317-80947317 + TCGA-HU-A4GX-01 COSM3388281 c.3561C>T p.D1187D Substitution - coding silent 17:80960161-80960161 + SH-3133 COSM3756001 c.1518A>G p.Q506Q Substitution - coding silent 17:80880423-80880423 + SH-7329 COSM4417700 c.234C>G p.T78T Substitution - coding silent 17:80625762-80625762 + NCI-H2171 COSM24246 c.1996G>T p.A666S Substitution - Missense 17:80891732-80891732 + RK082_C01 COSM1387149 c.352C>T p.R118W Substitution - Missense 17:80707844-80707844 + YUBER COSM1710887 c.3160_3161GG>AT p.G1054M Substitution - Missense 17:80947246-80947247 + TCGA-CG-4305-01 COSM4070551 c.2636C>T p.P879L Substitution - Missense 17:80923501-80923501 + GC8_T COSM148370 c.1314G>A p.Q438Q Substitution - coding silent 17:80846574-80846574 + 4760_PT COSM5755173 c.1075T>A p.S359T Substitution - Missense 17:80823162-80823162 + TCGA-BR-7703-01 COSM4070548 c.2250C>T p.G750G Substitution - coding silent 17:80893714-80893714 + 2492704 COSM5716819 c.2349C>A p.T783T Substitution - coding silent 17:80893813-80893813 + Pat_16_A COSM5853747 c.1146G>A p.W382* Substitution - Nonsense 17:80837931-80837931 + TCGA-RP-A695-06 COSM4896450 c.775C>T p.P259S Substitution - Missense 17:80754130-80754130 + S12-22512-TP COSM4991126 c.2102-1G>A p.? Unknown 17:80892728-80892728 + TCGA-06-0171-02 COSM2150344 c.3940-2A>G p.? Unknown 17:80964260-80964260 + PA055 COSM985741 c.627C>T p.F209F Substitution - coding silent 17:80730679-80730679 + NOKSI COSM4595985 c.762G>A p.M254I Substitution - Missense 17:80754117-80754117 + T3203 COSM4722797 c.470G>A p.R157Q Substitution - Missense 17:80707962-80707962 + TCGA-06-0171 COSM2150344 c.3940-2A>G p.? Unknown 17:80964260-80964260 + DM77 COSM5610539 c.3093C>T p.F1031F Substitution - coding silent 17:80945734-80945734 + MO_1012 COSM5548490 c.3649G>A p.A1217T Substitution - Missense 17:80961437-80961437 + TCGA-AU-6004-01 COSM1387164 c.1802A>G p.H601R Substitution - Missense 17:80883932-80883932 + LS180 COSM2804234 c.1557delG p.S520fs*15 Deletion - Frameshift 17:80880462-80880462 + T3503 COSM4722799 c.1521G>A p.A507A Substitution - coding silent 17:80880426-80880426 + HCC2998 COSM1680137 c.3433C>T p.R1145W Substitution - Missense 17:80957686-80957686 + SH-8559 COSM4417700 c.234C>G p.T78T Substitution - coding silent 17:80625762-80625762 + TCGA-14-3476-01 COSM3748031 c.790A>C p.T264P Substitution - Missense 17:80754145-80754145 + S12-11594-TP COSM4991128 c.2923C>T p.P975S Substitution - Missense 17:80940499-80940499 + DM12 COSM5610527 c.2635C>T p.P879S Substitution - Missense 17:80923500-80923500 + S09-31237-TP COSM4991130 c.3654C>T p.S1218S Substitution - coding silent 17:80961442-80961442 + S03-45671-TP COSM4991131 c.3788C>T p.P1263L Substitution - Missense 17:80962556-80962556 + TCGA-HU-A4GN-01 COSM4070545 c.2000T>C p.L667P Substitution - Missense 17:80891736-80891736 + Au4 COSM5604740 c.3438C>T p.I1146I Substitution - coding silent 17:80957691-80957691 + TCGA-AO-A124-01 COSM437756 c.1201A>T p.T401S Substitution - Missense 17:80837986-80837986 + SH-8559 COSM3756001 c.1518A>G p.Q506Q Substitution - coding silent 17:80880423-80880423 + HT115 COSM2804205 c.705G>A p.P235P Substitution - coding silent 17:80754060-80754060 + ESO-189 COSM1264599 c.2316C>T p.P772P Substitution - coding silent 17:80893780-80893780 + TCGA-CJ-4636-01 COSM473521 c.3646A>C p.K1216Q Substitution - Missense 17:80961434-80961434 + HCC53T COSM1610958 c.3478-8G>A p.? Unknown 17:80960070-80960070 + HCC131T COSM5824604 c.210G>T p.V70V Substitution - coding silent 17:80625738-80625738 + SH-7282 COSM437758 c.2526C>T p.T842T Substitution - coding silent 17:80922729-80922729 + CSCC-27-T COSM4473688 c.1867C>T p.L623F Substitution - Missense 17:80885032-80885032 + TCGA-ER-A19P-06 COSM3523443 c.618C>A p.F206L Substitution - Missense 17:80730670-80730670 + DM18 COSM5610530 c.1302C>T p.P434P Substitution - coding silent 17:80846562-80846562 + DM18 COSM5610532 c.1618G>A p.A540T Substitution - Missense 17:80883452-80883452 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.133042;Hs.133044 17q25.3 607130

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.D1058A c.3173A>C 17 78921059 OV A C Missense p.K1216Q c.3646A>C 17 78935234 RCCC A C Missense p.Q281P c.842A>C 17 78765261 CM A C Missense p.T264P c.790A>C 17 78727945 GBM A G Missense p.K867R c.2600A>G 17 78896603 LUSC A G Missense p.N161S c.482A>G 17 78681774 HNSC A G SpliceAcceptorSNV . c.3940-2A>G 17 78938060 GBM A T Missense p.T401S c.1201A>T 17 78811786 BRCA - ATTTT IntronicInsertion . c.162+31240_162+31241insATTTT 17 78550831 CLL - CAA IntronicInsertion . c.654+7869_654+7870insAAC 17 78712374 CLL C A Missense p.F206L c.618C>A 17 78704470 CM C A Missense p.L275M c.823C>A 17 78727978 STAD C A Missense p.P73H c.218C>A 17 78599546 STAD C A Synonymous p.G471G c.1413C>A 17 78831604 CM C A Synonymous p.P158P c.474C>A 17 78681766 LUSC CCCCCTTCTGGTTT - IntronicDeletion . c.2402-1169_2402-1156delCCCTTCTGGTTTCC 17 78881440 CM CC TT Missense p.P1036L c.3106_3107delinsTT 17 78919547 CM CC TT Missense p.P429S c.1284_1285delinsTT 17 78820344 CM C G IntronicSNV . c.3370+604C>G 17 78923951 CLL C G Missense p.L262V c.784C>G 17 78727939 SCLC C T 3-UTRSNV . c.4005+2034C>T 17 78940161 MB C T 3-UTRSNV . c.4005+4C>T 17 78938131 STAD C T 3-UTRSNV . c.4005+81C>T 17 78938208 RCCC C T IntronicSNV . c.1509+160C>T 17 78831860 HC C T IntronicSNV . c.1509+67C>T 17 78831767 CM C T IntronicSNV . c.2520+291C>T 17 78883020 CLL C T Missense p.L1138F c.3412C>T 17 78931465 CM C T Missense p.P407L c.1220C>T 17 78820280 HNSC C T Missense p.P407S c.1219C>T 17 78820279 CM C T Missense p.P429S c.1285C>T 17 78820345 CM C T Missense p.P613L c.1838C>T 17 78857768 CM C T Missense p.P879L c.2636C>T 17 78897301 STAD C T Missense p.R1148W c.3442C>T 17 78931495 STAD C T Missense p.R404W c.1210C>T 17 78811795 CM C T Missense p.S197F c.590C>T 17 78704442 CM C T Missense p.S483L c.1448C>T 17 78831639 BRCA C T Missense p.S520L c.1559C>T 17 78854264 STAD C T Missense p.S637F c.1910C>T 17 78858875 CM C T Synonymous p.A1041A c.3123C>T 17 78919564 COREAD C T Synonymous p.C246C c.738C>T 17 78727893 UCEC C T Synonymous p.F518F c.1554C>T 17 78854259 CM C T Synonymous p.F923F c.2769C>T 17 78897434 CM C T Synonymous p.I191I c.573C>T 17 78704425 CM C T Synonymous p.I298I c.894C>T 17 78796004 CM C T Synonymous p.I542I c.1626C>T 17 78857260 PRAD C T Synonymous p.I837I c.2511C>T 17 78882720 CM C T Synonymous p.L1138L c.3414C>T 17 78931467 CM C T Synonymous p.P772P c.2316C>T 17 78867580 ESCA C T Synonymous p.P80P c.240C>T 17 78599568 CM C T Synonymous p.S42S c.126C>T 17 78519555 COREAD C T Synonymous p.S877S c.2631C>T 17 78897296 CM C T Synonymous p.T768T c.2304C>T 17 78867568 LUSC C T Synonymous p.V1025V c.3075C>T 17 78919516 CM G A IntronicSNV . c.163-17146G>A 17 78582345 PIA G A IntronicSNV . c.508-9219G>A 17 78695141 CLL G A Missense p.A274T c.820G>A 17 78727975 RCCC G A Missense p.C562Y c.1685G>A 17 78857615 CM G A Missense p.D785N c.2353G>A 17 78867617 COREAD G A Missense p.D891N c.2671G>A 17 78897336 CM G A Missense p.E689K c.2065G>A 17 78865601 CM G A Missense p.E747K c.2239G>A 17 78866666 CM G A Missense p.G1078S c.3232G>A 17 78921118 UCEC G A Missense p.G1164S c.3490G>A 17 78933890 CM G A Missense p.G595S c.1783G>A 17 78857713 STAD G A Missense p.G724E c.2171G>A 17 78866598 LUSC G A Missense p.M5I c.15G>A 17 78519444 BRCA G A Missense p.R1123Q c.3368G>A 17 78923345 CM G A Missense p.R138H c.413G>A 17 78681705 COREAD G A Missense p.R301H c.902G>A 17 78796012 COREAD G A Missense p.R330Q c.989G>A 17 78796099 CM G A Missense p.R330Q c.989G>A 17 78796099 LUSC G A Missense p.S188N c.563G>A 17 78704415 UCEC G A Missense p.S704N c.2111G>A 17 78866538 STAD G A Missense p.V193I c.577G>A 17 78704429 LUAD G A Nonsense p.W1051* c.3153G>A 17 78921039 LUSC G A Synonymous p.A402A c.1206G>A 17 78811791 LUAD G A Synonymous p.A753A c.2259G>A 17 78867523 CM G A Synonymous p.A941A c.2823G>A 17 78899184 HNSC G A Synonymous p.K1097K c.3291G>A 17 78923268 BRCA G A Synonymous p.K840K c.2520G>A 17 78882729 HNSC G A Synonymous p.L11L c.33G>A 17 78519462 CM G A Synonymous p.L182L c.546G>A 17 78704398 BLCA G A Synonymous p.P368P c.1104G>A 17 78796991 ESCA G A Synonymous p.P371P c.1113G>A 17 78797000 GBM G A Synonymous p.P906P c.2718G>A 17 78897383 BRCA G A Synonymous p.S1329S c.3987G>A 17 78938109 HNSC G C IntronicSNV . c.655-5908G>C 17 78721902 CLL G C Missense p.E632Q c.1894G>C 17 78858859 HNSC G C Missense p.S766T c.2297G>C 17 78867561 BRCA G C Synonymous p.L1267L c.3801G>C 17 78936369 BLCA - G Frameshift p.A221Gfs*41 c.661dupG 17 78727816 OV GG AA Missense p.G1164S c.3489_3490delinsAA 17 78933889 CM G T Missense p.D1117Y c.3349G>T 17 78923326 LUAD G T Missense p.D943Y c.2827G>T 17 78899188 HNSC G T Missense p.G628C c.1882G>T 17 78858847 LUAD G T Missense p.R138L c.413G>T 17 78681705 LUAD G T Missense p.R927L c.2780G>T 17 78897445 LUAD G T Missense p.V476L c.1426G>T 17 78831617 BRCA G T Missense p.V814F c.2440G>T 17 78882649 STAD G T Synonymous p.S190S c.570G>T 17 78704422 BRCA G T Synonymous p.T957T c.2871G>T 17 78899232 LUAD T A Missense p.L468M c.1402T>A 17 78831593 SCLC T C Missense p.L815P c.2444T>C 17 78882653 STAD T C Missense p.Y674H c.2020T>C 17 78865556 STAD T C SpliceDonorSNV . c.348+2T>C 17 78617612 UCEC TGGTGG - IntronicDeletion . c.349-7393_349-7388delGTGGTG 17 78674240 CM TGGTGGTGGTGA - IntronicDeletion . c.349-7120_349-7109delGTGGTGGTGATG 17 78674519 CM