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 10 97096405 97096405 + Missense_Mutation SNP G G T TCGA-OR-A5JH-01A-11D-A30A-10 TCGA-OR-A5JH-10A-01D-A30A-10 g.chr10:97096405G>T c.3512C>A c.(3511-3513)aCc>aAc p.T1171N BLCA 10 97078181 97078181 + Missense_Mutation SNP T T C TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr10:97078181T>C c.3707A>G c.(3706-3708)tAt>tGt p.Y1236C BLCA 10 97096592 97096592 + Missense_Mutation SNP C C T TCGA-E7-A7DV-01A-11D-A339-08 TCGA-E7-A7DV-10A-01D-A339-08 g.chr10:97096592C>T c.3325G>A c.(3325-3327)Gat>Aat p.D1109N BLCA 10 97096652 97096652 + Missense_Mutation SNP G G T TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 g.chr10:97096652G>T c.3265C>A c.(3265-3267)Caa>Aaa p.Q1089K BLCA 10 97096663 97096663 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr10:97096663G>A c.3254C>T c.(3253-3255)tCa>tTa p.S1085L BLCA 10 97096846 97096846 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr10:97096846G>A c.3071C>T c.(3070-3072)tCa>tTa p.S1024L BLCA 10 97099039 97099039 + Missense_Mutation SNP C C T TCGA-G2-AA3D-01A-11D-A391-08 TCGA-G2-AA3D-10A-01D-A394-08 g.chr10:97099039C>T c.2716G>A c.(2716-2718)Gaa>Aaa p.E906K BLCA 10 97101052 97101052 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr10:97101052G>A c.2660C>T c.(2659-2661)tCc>tTc p.S887F BLCA 10 97101150 97101150 + Silent SNP C C T TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr10:97101150C>T c.2562G>A c.(2560-2562)gaG>gaA p.E854E BLCA 10 97141472 97141472 + Silent SNP G G T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 g.chr10:97141472G>T c.1623C>A c.(1621-1623)ggC>ggA p.G541G BLCA 10 97154370 97154370 + Missense_Mutation SNP T T C TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr10:97154370T>C c.1358A>G c.(1357-1359)gAa>gGa p.E453G BLCA 10 97174257 97174257 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr10:97174257C>T c.804G>A c.(802-804)tcG>tcA p.S268S BLCA 10 97181762 97181762 + Missense_Mutation SNP C C G TCGA-BT-A42F-01A-11D-A23U-08 TCGA-BT-A42F-10A-01D-A23U-08 g.chr10:97181762C>G c.397G>C c.(397-399)Ggc>Cgc p.G133R BLCA 10 97181762 97181762 + Missense_Mutation SNP C C G TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr10:97181762C>G c.397G>C c.(397-399)Ggc>Cgc p.G133R BRCA 10 97096374 97096374 + Silent SNP C C G TCGA-AO-A1KR-01A-12D-A142-09 TCGA-AO-A1KR-10A-01D-A142-09 g.chr10:97096374C>G c.3543G>C c.(3541-3543)ctG>ctC p.L1181L BRCA 10 97096417 97096417 + Nonsense_Mutation SNP G G C TCGA-A8-A092-01A-11W-A019-09 TCGA-A8-A092-10A-01W-A021-09 g.chr10:97096417G>C c.3500C>G c.(3499-3501)tCa>tGa p.S1167* BRCA 10 97096790 97096790 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr10:97096790G>A c.3127C>T c.(3127-3129)Cgt>Tgt p.R1043C BRCA 10 97101164 97101164 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr10:97101164G>C c.2548C>G c.(2548-2550)Ctt>Gtt p.L850V BRCA 10 97106171 97106171 + Silent SNP C C T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 g.chr10:97106171C>T c.2421G>A c.(2419-2421)caG>caA p.Q807Q BRCA 10 97110968 97110968 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 g.chr10:97110968C>T c.2380G>A c.(2380-2382)Gag>Aag p.E794K BRCA 10 97117484 97117484 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr10:97117484C>T c.2032G>A c.(2032-2034)Gag>Aag p.E678K BRCA 10 97141537 97141537 + Missense_Mutation SNP C C T TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 g.chr10:97141537C>T c.1558G>A c.(1558-1560)Gat>Aat p.D520N BRCA 10 97157022 97157022 + Missense_Mutation SNP C C T TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 g.chr10:97157022C>T c.1177G>A c.(1177-1179)Gac>Aac p.D393N BRCA 10 97170460 97170460 + Silent SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 g.chr10:97170460G>A c.885C>T c.(883-885)agC>agT p.S295S CESC 10 97096727 97096727 + Silent SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr10:97096727G>A c.3190C>T c.(3190-3192)Cta>Tta p.L1064L CESC 10 97131130 97131130 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr10:97131130C>G c.1858G>C c.(1858-1860)Gaa>Caa p.E620Q CESC 10 97135792 97135792 + Missense_Mutation SNP C C G TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 g.chr10:97135792C>G c.1675G>C c.(1675-1677)Gag>Cag p.E559Q CESC 10 97154431 97154431 + Splice_Site SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr10:97154431C>T c.e13-1 CESC 10 97158831 97158831 + Silent SNP C C T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr10:97158831C>T c.1101G>A c.(1099-1101)gtG>gtA p.V367V CESC 10 97174291 97174291 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr10:97174291C>G c.770G>C c.(769-771)aGa>aCa p.R257T CESC 10 97192313 97192314 + Frame_Shift_Ins INS - - GATTTTT TCGA-EA-A44S-01A-12D-A26G-09 TCGA-EA-A44S-10A-01D-A26G-09 g.chr10:97192313_97192314insGATTTTT c.192_193insAAAAATC c.(190-195)atctgcfs p.C65fs CHOL 10 97106174 97106174 + Silent SNP A A C TCGA-W5-AA30-01A-31D-A417-09 TCGA-W5-AA30-10A-01D-A41A-09 g.chr10:97106174A>C c.2418T>G c.(2416-2418)gcT>gcG p.A806A CHOL 10 97197306 97197306 + Missense_Mutation SNP T T A TCGA-4G-AAZO-01A-12D-A417-09 TCGA-4G-AAZO-11A-11D-A41A-09 g.chr10:97197306T>A c.17A>T c.(16-18)gAt>gTt p.D6V COAD 10 97096451 97096451 + Missense_Mutation SNP C C T TCGA-AA-3971-01A-01W-0995-10 TCGA-AA-3971-10A-01W-0999-10 g.chr10:97096451C>T c.3466G>A c.(3466-3468)Gtg>Atg p.V1156M COAD 10 97096778 97096778 + Nonsense_Mutation SNP G G A TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr10:97096778G>A c.3139C>T c.(3139-3141)Cga>Tga p.R1047* COAD 10 97099026 97099026 + Missense_Mutation SNP G G T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr10:97099026G>T c.2729C>A c.(2728-2730)cCg>cAg p.P910Q COAD 10 97111102 97111102 + Missense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr10:97111102C>T c.2246G>A c.(2245-2247)cGc>cAc p.R749H COAD 10 97117517 97117517 + Missense_Mutation SNP C C T TCGA-CK-5915-01A-11D-1650-10 TCGA-CK-5915-10A-01D-1650-10 g.chr10:97117517C>T c.1999G>A c.(1999-2001)Ggg>Agg p.G667R COAD 10 97131090 97131090 + Missense_Mutation SNP A A G TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr10:97131090A>G c.1898T>C c.(1897-1899)gTg>gCg p.V633A COAD 10 97135757 97135757 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr10:97135757G>T c.1710C>A c.(1708-1710)ttC>ttA p.F570L COAD 10 97135757 97135757 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr10:97135757G>T c.1710C>A c.(1708-1710)ttC>ttA p.F570L COAD 10 97135757 97135757 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr10:97135757G>T c.1710C>A c.(1708-1710)ttC>ttA p.F570L COAD 10 97144028 97144028 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr10:97144028G>T c.1375C>A c.(1375-1377)Ctg>Atg p.L459M COAD 10 97174447 97174447 + Missense_Mutation SNP G G T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr10:97174447G>T c.614C>A c.(613-615)cCg>cAg p.P205Q COAD 10 97174500 97174500 + Silent SNP G G T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr10:97174500G>T c.561C>A c.(559-561)ggC>ggA p.G187G COAD 10 97192278 97192278 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr10:97192278C>T c.228G>A c.(226-228)tcG>tcA p.S76S COADREAD 10 97096451 97096451 + Missense_Mutation SNP C C T TCGA-AA-3971-01A-01W-0995-10 TCGA-AA-3971-10A-01W-0999-10 g.chr10:97096451C>T c.3466G>A c.(3466-3468)Gtg>Atg p.V1156M COADREAD 10 97096451 97096451 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr10:97096451C>T c.3466G>A c.(3466-3468)Gtg>Atg p.V1156M COADREAD 10 97096778 97096778 + Nonsense_Mutation SNP G G A TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr10:97096778G>A c.3139C>T c.(3139-3141)Cga>Tga p.R1047* COADREAD 10 97099026 97099026 + Missense_Mutation SNP G G T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr10:97099026G>T c.2729C>A c.(2728-2730)cCg>cAg p.P910Q COADREAD 10 97111102 97111102 + Missense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr10:97111102C>T c.2246G>A c.(2245-2247)cGc>cAc p.R749H COADREAD 10 97111111 97111111 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr10:97111111C>T c.2237G>A c.(2236-2238)cGa>cAa p.R746Q COADREAD 10 97114661 97114661 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr10:97114661C>T c.2192G>A c.(2191-2193)cGa>cAa p.R731Q COADREAD 10 97117517 97117517 + Missense_Mutation SNP C C T TCGA-CK-5915-01A-11D-1650-10 TCGA-CK-5915-10A-01D-1650-10 g.chr10:97117517C>T c.1999G>A c.(1999-2001)Ggg>Agg p.G667R COADREAD 10 97131090 97131090 + Missense_Mutation SNP A A G TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr10:97131090A>G c.1898T>C c.(1897-1899)gTg>gCg p.V633A COADREAD 10 97135757 97135757 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr10:97135757G>T c.1710C>A c.(1708-1710)ttC>ttA p.F570L COADREAD 10 97135757 97135757 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr10:97135757G>T c.1710C>A c.(1708-1710)ttC>ttA p.F570L COADREAD 10 97135757 97135757 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr10:97135757G>T c.1710C>A c.(1708-1710)ttC>ttA p.F570L COADREAD 10 97135810 97135810 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr10:97135810G>A c.1657C>T c.(1657-1659)Cgg>Tgg p.R553W COADREAD 10 97144028 97144028 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr10:97144028G>T c.1375C>A c.(1375-1377)Ctg>Atg p.L459M COADREAD 10 97174447 97174447 + Missense_Mutation SNP G G T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr10:97174447G>T c.614C>A c.(613-615)cCg>cAg p.P205Q COADREAD 10 97174500 97174500 + Silent SNP G G T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr10:97174500G>T c.561C>A c.(559-561)ggC>ggA p.G187G COADREAD 10 97192278 97192278 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr10:97192278C>T c.228G>A c.(226-228)tcG>tcA p.S76S DLBC 10 97154762 97154762 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr10:97154762G>A c.1293C>T c.(1291-1293)tcC>tcT p.S431S ESCA 10 97081740 97081740 + Silent SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 g.chr10:97081740C>T c.3678G>A c.(3676-3678)agG>agA p.R1226R ESCA 10 97096993 97096993 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr10:97096993C>T c.2924G>A c.(2923-2925)cGa>cAa p.R975Q ESCA 10 97101351 97101351 + Silent SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 g.chr10:97101351C>A c.2514G>T c.(2512-2514)cgG>cgT p.R838R ESCA 10 97154774 97154774 + Silent SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 g.chr10:97154774G>T c.1281C>A c.(1279-1281)atC>atA p.I427I ESCA 10 97165894 97165894 + Frame_Shift_Del DEL T T - TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 g.chr10:97165894delT c.966delA c.(964-966)aaafs p.K322fs ESCA 10 97170530 97170530 + Missense_Mutation SNP G G T TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 g.chr10:97170530G>T c.815C>A c.(814-816)tCc>tAc p.S272Y ESCA 10 97174480 97174480 + Missense_Mutation SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr10:97174480G>A c.581C>T c.(580-582)gCg>gTg p.A194V ESCA 10 97194450 97194450 + Missense_Mutation SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 g.chr10:97194450C>T c.101G>A c.(100-102)cGc>cAc p.R34H ESCA 10 97194456 97194456 + Missense_Mutation SNP C C A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 g.chr10:97194456C>A c.95G>T c.(94-96)cGc>cTc p.R32L GBM 10 97096883 97096883 + Missense_Mutation SNP C C G TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 g.chr10:97096883C>G c.3034G>C c.(3034-3036)Gag>Cag p.E1012Q GBM 10 97194458 97194458 + Missense_Mutation SNP T T A TCGA-19-5950-01A-11D-1696-08 TCGA-19-5950-11A-01D-1696-08 g.chr10:97194458T>A c.93A>T c.(91-93)ttA>ttT p.L31F GBMLGG 10 97078130 97078130 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr10:97078130C>T c.3758G>A c.(3757-3759)cGc>cAc p.R1253H GBMLGG 10 97096671 97096671 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr10:97096671C>T c.3246G>A c.(3244-3246)acG>acA p.T1082T GBMLGG 10 97096883 97096883 + Missense_Mutation SNP C C G TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 g.chr10:97096883C>G c.3034G>C c.(3034-3036)Gag>Cag p.E1012Q GBMLGG 10 97194458 97194458 + Missense_Mutation SNP T T A TCGA-19-5950-01A-11D-1696-08 TCGA-19-5950-11A-01D-1696-08 g.chr10:97194458T>A c.93A>T c.(91-93)ttA>ttT p.L31F HNSC 10 97096645 97096645 + Missense_Mutation SNP C C T TCGA-CV-A45W-01A-11D-A25D-08 TCGA-CV-A45W-10A-01D-A25E-08 g.chr10:97096645C>T c.3272G>A c.(3271-3273)aGc>aAc p.S1091N HNSC 10 97098980 97098980 + Silent SNP C C A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 g.chr10:97098980C>A c.2775G>T c.(2773-2775)gtG>gtT p.V925V HNSC 10 97117484 97117484 + Missense_Mutation SNP C C T TCGA-HD-A6I0-01A-11D-A31L-08 TCGA-HD-A6I0-10A-01D-A31J-08 g.chr10:97117484C>T c.2032G>A c.(2032-2034)Gag>Aag p.E678K HNSC 10 97141462 97141462 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr10:97141462C>T c.1633G>A c.(1633-1635)Gtt>Att p.V545I HNSC 10 97144014 97144014 + Missense_Mutation SNP T T A TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 g.chr10:97144014T>A c.1389A>T c.(1387-1389)agA>agT p.R463S HNSC 10 97174256 97174256 + Missense_Mutation SNP T T A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 g.chr10:97174256T>A c.805A>T c.(805-807)Agt>Tgt p.S269C HNSC 10 97174295 97174295 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 g.chr10:97174295G>A c.766C>T c.(766-768)Cgc>Tgc p.R256C HNSC 10 97174427 97174427 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr10:97174427G>A c.634C>T c.(634-636)Ccc>Tcc p.P212S HNSC 10 97194428 97194428 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr10:97194428G>A c.123C>T c.(121-123)atC>atT p.I41I KIPAN 10 97096528 97096528 + Missense_Mutation SNP T T G TCGA-MH-A55W-01A-11D-A26P-10 TCGA-MH-A55W-10A-01D-A26P-10 g.chr10:97096528T>G c.3389A>C c.(3388-3390)aAa>aCa p.K1130T KIPAN 10 97135759 97135759 + Missense_Mutation SNP A A G TCGA-A3-3370-01A-02D-1421-08 TCGA-A3-3370-11A-01D-1421-08 g.chr10:97135759A>G c.1708T>C c.(1708-1710)Ttc>Ctc p.F570L KIPAN 10 97143753 97143753 + Silent SNP T T C TCGA-Y8-A896-01A-11D-A35Z-10 TCGA-Y8-A896-10A-01D-A35Z-10 g.chr10:97143753T>C c.1527A>G c.(1525-1527)tcA>tcG p.S509S KIRC 10 97135759 97135759 + Missense_Mutation SNP A A G TCGA-A3-3370-01A-02D-1421-08 TCGA-A3-3370-11A-01D-1421-08 g.chr10:97135759A>G c.1708T>C c.(1708-1710)Ttc>Ctc p.F570L KIRP 10 97096528 97096528 + Missense_Mutation SNP T T G TCGA-MH-A55W-01A-11D-A26P-10 TCGA-MH-A55W-10A-01D-A26P-10 g.chr10:97096528T>G c.3389A>C c.(3388-3390)aAa>aCa p.K1130T KIRP 10 97143753 97143753 + Silent SNP T T C TCGA-Y8-A896-01A-11D-A35Z-10 TCGA-Y8-A896-10A-01D-A35Z-10 g.chr10:97143753T>C c.1527A>G c.(1525-1527)tcA>tcG p.S509S LGG 10 97078130 97078130 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr10:97078130C>T c.3758G>A c.(3757-3759)cGc>cAc p.R1253H LGG 10 97096671 97096671 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr10:97096671C>T c.3246G>A c.(3244-3246)acG>acA p.T1082T LIHC 10 97197265 97197265 + Missense_Mutation SNP T T A TCGA-KR-A7K8-01A-11D-A33K-10 TCGA-KR-A7K8-10A-01D-A33K-10 g.chr10:97197265T>A c.58A>T c.(58-60)Agc>Tgc p.S20C LUAD 10 97078119 97078119 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 g.chr10:97078119T>C c.3769A>G c.(3769-3771)Atc>Gtc p.I1257V LUAD 10 97081774 97081774 + Missense_Mutation SNP G G A TCGA-44-5643-01A-01D-1625-08 TCGA-44-5643-10A-01D-1625-08 g.chr10:97081774G>A c.3644C>T c.(3643-3645)cCt>cTt p.P1215L LUAD 10 97096425 97096425 + Missense_Mutation SNP C C G TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr10:97096425C>G c.3492G>C c.(3490-3492)caG>caC p.Q1164H LUAD 10 97096427 97096427 + Missense_Mutation SNP G G C TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr10:97096427G>C c.3490C>G c.(3490-3492)Cag>Gag p.Q1164E LUAD 10 97099020 97099020 + Missense_Mutation SNP G G T TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chr10:97099020G>T c.2735C>A c.(2734-2736)aCa>aAa p.T912K LUAD 10 97111089 97111089 + Missense_Mutation SNP C C A TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr10:97111089C>A c.2259G>T c.(2257-2259)gaG>gaT p.E753D LUAD 10 97135812 97135812 + Splice_Site SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 g.chr10:97135812C>T c.1655G>A c.(1654-1656)aGt>aAt p.S552N LUAD 10 97141441 97141441 + Splice_Site SNP C C T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr10:97141441C>T c.e16+1 LUAD 10 97141463 97141463 + Silent SNP G G A TCGA-55-A491-01A-11D-A24D-08 TCGA-55-A491-10A-01D-A24F-08 g.chr10:97141463G>A c.1632C>T c.(1630-1632)tcC>tcT p.S544S LUAD 10 97144023 97144023 + Silent SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 g.chr10:97144023G>A c.1380C>T c.(1378-1380)taC>taT p.Y460Y LUAD 10 97158866 97158866 + Missense_Mutation SNP C C G TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 g.chr10:97158866C>G c.1066G>C c.(1066-1068)Gaa>Caa p.E356Q LUAD 10 97174268 97174268 + Nonsense_Mutation SNP C C A TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 g.chr10:97174268C>A c.793G>T c.(793-795)Gga>Tga p.G265* LUAD 10 97174272 97174272 + Silent SNP G G A TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr10:97174272G>A c.789C>T c.(787-789)ctC>ctT p.L263L LUAD 10 97174523 97174523 + Missense_Mutation SNP G G A TCGA-93-A4JQ-01A-11D-A24P-08 TCGA-93-A4JQ-10A-01D-A24P-08 g.chr10:97174523G>A c.538C>T c.(538-540)Cca>Tca p.P180S LUAD 10 97181826 97181826 + Missense_Mutation SNP C C G TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 g.chr10:97181826C>G c.333G>C c.(331-333)gaG>gaC p.E111D LUSC 10 97098986 97098986 + Silent SNP C C A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 g.chr10:97098986C>A c.2769G>T c.(2767-2769)gtG>gtT p.V923V LUSC 10 97131754 97131754 + Missense_Mutation SNP C C G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 g.chr10:97131754C>G c.1790G>C c.(1789-1791)aGa>aCa p.R597T LUSC 10 97135751 97135751 + Silent SNP C C T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr10:97135751C>T c.1716G>A c.(1714-1716)tcG>tcA p.S572S LUSC 10 97158878 97158878 + Missense_Mutation SNP C C T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 g.chr10:97158878C>T c.1054G>A c.(1054-1056)Ggc>Agc p.G352S LUSC 10 97170424 97170424 + Silent SNP G G C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr10:97170424G>C c.921C>G c.(919-921)gtC>gtG p.V307V LUSC 10 97174445 97174445 + Missense_Mutation SNP T T G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chr10:97174445T>G c.616A>C c.(616-618)Act>Cct p.T206P LUSC 10 97174525 97174525 + Missense_Mutation SNP G G C TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr10:97174525G>C c.536C>G c.(535-537)cCt>cGt p.P179R LUSC 10 97192217 97192217 + Missense_Mutation SNP C C T TCGA-66-2768-01A-01D-1522-08 TCGA-66-2768-11A-01D-1522-08 g.chr10:97192217C>T c.289G>A c.(289-291)Gaa>Aaa p.E97K LUSC 10 97194428 97194428 + Silent SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr10:97194428G>A c.123C>T c.(121-123)atC>atT p.I41I OV 10 97096492 97096492 + Missense_Mutation SNP C C G TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 g.chr10:97096492C>G c.3425G>C c.(3424-3426)gGa>gCa p.G1142A OV 10 97096845 97096845 + Silent SNP T T A TCGA-24-1466-01A-01W-0545-08 TCGA-24-1466-10A-01W-0545-08 g.chr10:97096845T>A c.3072A>T c.(3070-3072)tcA>tcT p.S1024S PAAD 10 97096368 97096368 + Silent SNP G G A TCGA-S4-A8RO-01A-12D-A377-08 TCGA-S4-A8RO-10A-01D-A37A-08 g.chr10:97096368G>A c.3549C>T c.(3547-3549)agC>agT p.S1183S PAAD 10 97096906 97096906 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr10:97096906G>A c.3011C>T c.(3010-3012)aCc>aTc p.T1004I PCPG 10 97131803 97131803 + Missense_Mutation SNP G G A TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 g.chr10:97131803G>A c.1741C>T c.(1741-1743)Ccc>Tcc p.P581S PCPG 10 97141496 97141496 + Missense_Mutation SNP C C A TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 g.chr10:97141496C>A c.1599G>T c.(1597-1599)aaG>aaT p.K533N PRAD 10 97074853 97074853 + Missense_Mutation SNP G G C TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 g.chr10:97074853G>C c.3842C>G c.(3841-3843)aCt>aGt p.T1281S PRAD 10 97192294 97192294 + Missense_Mutation SNP A A T TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 g.chr10:97192294A>T c.212T>A c.(211-213)gTg>gAg p.V71E PRAD 10 97192297 97192297 + Missense_Mutation SNP G G A TCGA-CH-5765-01A-11D-1576-08 TCGA-CH-5765-11A-01D-1576-08 g.chr10:97192297G>A c.209C>T c.(208-210)gCg>gTg p.A70V READ 10 97096451 97096451 + Missense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr10:97096451C>T c.3466G>A c.(3466-3468)Gtg>Atg p.V1156M READ 10 97111111 97111111 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr10:97111111C>T c.2237G>A c.(2236-2238)cGa>cAa p.R746Q READ 10 97114661 97114661 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr10:97114661C>T c.2192G>A c.(2191-2193)cGa>cAa p.R731Q READ 10 97135810 97135810 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr10:97135810G>A c.1657C>T c.(1657-1659)Cgg>Tgg p.R553W SARC 10 97099064 97099064 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 g.chr10:97099064G>A c.2691C>T c.(2689-2691)ctC>ctT p.L897L SARC 10 97131754 97131754 + Missense_Mutation SNP C C G TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 g.chr10:97131754C>G c.1790G>C c.(1789-1791)aGa>aCa p.R597T SKCM 10 97078132 97078132 + Silent SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr10:97078132G>A c.3756C>T c.(3754-3756)ctC>ctT p.L1252L SKCM 10 97081768 97081768 + Missense_Mutation SNP G G A TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr10:97081768G>A c.3650C>T c.(3649-3651)gCc>gTc p.A1217V SKCM 10 97096387 97096387 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr10:97096387G>A c.3530C>T c.(3529-3531)cCc>cTc p.P1177L SKCM 10 97096790 97096790 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr10:97096790G>A c.3127C>T c.(3127-3129)Cgt>Tgt p.R1043C SKCM 10 97096831 97096831 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr10:97096831G>A c.3086C>T c.(3085-3087)cCc>cTc p.P1029L SKCM 10 97096831 97096831 + Missense_Mutation SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 g.chr10:97096831G>A c.3086C>T c.(3085-3087)cCc>cTc p.P1029L SKCM 10 97096832 97096832 + Missense_Mutation SNP G G A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr10:97096832G>A c.3085C>T c.(3085-3087)Ccc>Tcc p.P1029S SKCM 10 97096854 97096854 + Silent SNP G G A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 g.chr10:97096854G>A c.3063C>T c.(3061-3063)ctC>ctT p.L1021L SKCM 10 97096857 97096857 + Silent SNP G G A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr10:97096857G>A c.3060C>T c.(3058-3060)caC>caT p.H1020H SKCM 10 97096895 97096895 + Missense_Mutation SNP G G A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 g.chr10:97096895G>A c.3022C>T c.(3022-3024)Cct>Tct p.P1008S SKCM 10 97096931 97096931 + Missense_Mutation SNP G G A TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr10:97096931G>A c.2986C>T c.(2986-2988)Cca>Tca p.P996S SKCM 10 97097017 97097017 + Missense_Mutation SNP G G A TCGA-D3-A5GL-06A-11D-A27K-08 TCGA-D3-A5GL-10A-01D-A27N-08 g.chr10:97097017G>A c.2900C>T c.(2899-2901)cCc>cTc p.P967L SKCM 10 97097017 97097017 + Missense_Mutation SNP G G A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 g.chr10:97097017G>A c.2900C>T c.(2899-2901)cCc>cTc p.P967L SKCM 10 97097047 97097047 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr10:97097047G>A c.2870C>T c.(2869-2871)tCc>tTc p.S957F SKCM 10 97101161 97101161 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 g.chr10:97101161G>A c.2551C>T c.(2551-2553)Cct>Tct p.P851S SKCM 10 97111052 97111052 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr10:97111052G>A c.2296C>T c.(2296-2298)Ccg>Tcg p.P766S SKCM 10 97143773 97143773 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr10:97143773G>A c.1507C>T c.(1507-1509)Cgc>Tgc p.R503C SKCM 10 97170471 97170471 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr10:97170471G>A c.874C>T c.(874-876)Cca>Tca p.P292S SKCM 10 97192238 97192238 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr10:97192238G>A c.268C>T c.(268-270)Cct>Tct p.P90S SKCM 10 97192281 97192281 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr10:97192281G>A c.225C>T c.(223-225)gcC>gcT p.A75A

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 10 97101107 97101107 single base substitution A T downstream_gene_variant BLCA-CN 10 97101107 97101107 single base substitution A T missense_variant Y1129N 3385T>A BLCA-CN 10 97101107 97101107 single base substitution A T missense_variant Y519N 1555T>A BLCA-CN 10 97101107 97101107 single base substitution A T missense_variant Y616N 1846T>A BLCA-CN 10 97101107 97101107 single base substitution A T missense_variant Y646N 1936T>A BLCA-CN 10 97101107 97101107 single base substitution A T missense_variant Y651N 1951T>A BLCA-CN 10 97101107 97101107 single base substitution A T missense_variant Y681N 2041T>A BLCA-CN 10 97101107 97101107 single base substitution A T missense_variant Y720N 2158T>A BLCA-CN 10 97101107 97101107 single base substitution A T missense_variant Y823N 2467T>A BLCA-CN 10 97101107 97101107 single base substitution A T missense_variant Y839N 2515T>A BLCA-CN 10 97101107 97101107 single base substitution A T missense_variant Y869N 2605T>A BLCA-CN 10 97101107 97101107 single base substitution A T missense_variant Y891N 2671T>A BLCA-CN 10 97174431 97174431 single base substitution G A downstream_gene_variant BLCA-CN 10 97174431 97174431 single base substitution G A exon_variant BLCA-CN 10 97174431 97174431 single base substitution G A intron_variant BLCA-CN 10 97174431 97174431 single base substitution G A synonymous_variant F178F 534C>T BLCA-CN 10 97174431 97174431 single base substitution G A synonymous_variant F201F 603C>T BLCA-CN 10 97174431 97174431 single base substitution G A synonymous_variant F210F 630C>T BLCA-CN 10 97174431 97174431 single base substitution G A upstream_gene_variant BLCA-US 10 97096652 97096652 single base substitution G T downstream_gene_variant BLCA-US 10 97096652 97096652 single base substitution G T intron_variant BLCA-US 10 97096652 97096652 single base substitution G T missense_variant Q1043K 3127C>A BLCA-US 10 97096652 97096652 single base substitution G T missense_variant Q1089K 3265C>A BLCA-US 10 97096663 97096663 single base substitution G A downstream_gene_variant BLCA-US 10 97096663 97096663 single base substitution G A intron_variant BLCA-US 10 97096663 97096663 single base substitution G A missense_variant S1039L 3116C>T BLCA-US 10 97096663 97096663 single base substitution G A missense_variant S1085L 3254C>T BLCA-US 10 97096846 97096846 single base substitution G A downstream_gene_variant BLCA-US 10 97096846 97096846 single base substitution G A intron_variant BLCA-US 10 97096846 97096846 single base substitution G A missense_variant S1024L 3071C>T BLCA-US 10 97096846 97096846 single base substitution G A missense_variant S978L 2933C>T BLCA-US 10 97101052 97101052 single base substitution G A downstream_gene_variant BLCA-US 10 97101052 97101052 single base substitution G A missense_variant S1147F 3440C>T BLCA-US 10 97101052 97101052 single base substitution G A missense_variant S537F 1610C>T BLCA-US 10 97101052 97101052 single base substitution G A missense_variant S634F 1901C>T BLCA-US 10 97101052 97101052 single base substitution G A missense_variant S664F 1991C>T BLCA-US 10 97101052 97101052 single base substitution G A missense_variant S669F 2006C>T BLCA-US 10 97101052 97101052 single base substitution G A missense_variant S699F 2096C>T BLCA-US 10 97101052 97101052 single base substitution G A missense_variant S738F 2213C>T BLCA-US 10 97101052 97101052 single base substitution G A missense_variant S841F 2522C>T BLCA-US 10 97101052 97101052 single base substitution G A missense_variant S857F 2570C>T BLCA-US 10 97101052 97101052 single base substitution G A missense_variant S887F 2660C>T BLCA-US 10 97101052 97101052 single base substitution G A missense_variant S909F 2726C>T BLCA-US 10 97141472 97141472 single base substitution G T downstream_gene_variant BLCA-US 10 97141472 97141472 single base substitution G T exon_variant BLCA-US 10 97141472 97141472 single base substitution G T synonymous_variant G330G 990C>A BLCA-US 10 97141472 97141472 single base substitution G T synonymous_variant G331G 993C>A BLCA-US 10 97141472 97141472 single base substitution G T synonymous_variant G340G 1020C>A BLCA-US 10 97141472 97141472 single base substitution G T synonymous_variant G372G 1116C>A BLCA-US 10 97141472 97141472 single base substitution G T synonymous_variant G409G 1227C>A BLCA-US 10 97141472 97141472 single base substitution G T synonymous_variant G426G 1278C>A BLCA-US 10 97141472 97141472 single base substitution G T synonymous_variant G463G 1389C>A BLCA-US 10 97141472 97141472 single base substitution G T synonymous_variant G495G 1485C>A BLCA-US 10 97141472 97141472 single base substitution G T synonymous_variant G511G 1533C>A BLCA-US 10 97141472 97141472 single base substitution G T synonymous_variant G541G 1623C>A BLCA-US 10 97141472 97141472 single base substitution G T synonymous_variant G563G 1689C>A BLCA-US 10 97174257 97174257 single base substitution C T downstream_gene_variant BLCA-US 10 97174257 97174257 single base substitution C T exon_variant BLCA-US 10 97174257 97174257 single base substitution C T intron_variant BLCA-US 10 97174257 97174257 single base substitution C T synonymous_variant S199S 597G>A BLCA-US 10 97174257 97174257 single base substitution C T synonymous_variant S236S 708G>A BLCA-US 10 97174257 97174257 single base substitution C T synonymous_variant S259S 777G>A BLCA-US 10 97174257 97174257 single base substitution C T synonymous_variant S268S 804G>A BLCA-US 10 97174257 97174257 single base substitution C T upstream_gene_variant BOCA-FR 10 97148511 97148511 single base substitution G T intron_variant BOCA-FR 10 97148511 97148511 single base substitution G T upstream_gene_variant BOCA-FR 10 97177721 97177721 single base substitution C T intron_variant BOCA-FR 10 97177721 97177721 single base substitution C T upstream_gene_variant BRCA-EU 10 97066959 97066959 single base substitution C T downstream_gene_variant BRCA-EU 10 97066967 97066967 single base substitution A G downstream_gene_variant BRCA-EU 10 97067102 97067102 single base substitution G C downstream_gene_variant BRCA-EU 10 97070302 97070302 single base substitution C A downstream_gene_variant BRCA-EU 10 97075256 97075256 single base substitution C G intron_variant BRCA-EU 10 97077059 97077059 single base substitution G C intron_variant BRCA-EU 10 97077640 97077640 single base substitution C T intron_variant BRCA-EU 10 97078037 97078037 single base substitution C T intron_variant BRCA-EU 10 97079100 97079100 single base substitution G A intron_variant BRCA-EU 10 97079474 97079474 single base substitution A C intron_variant BRCA-EU 10 97079591 97079591 single base substitution G A intron_variant BRCA-EU 10 97079960 97079960 single base substitution C G intron_variant BRCA-EU 10 97080011 97080011 single base substitution C T intron_variant BRCA-EU 10 97080473 97080473 single base substitution T G intron_variant BRCA-EU 10 97080752 97080752 single base substitution G A intron_variant BRCA-EU 10 97081829 97081829 single base substitution G C intron_variant BRCA-EU 10 97081989 97081989 single base substitution G C intron_variant BRCA-EU 10 97083464 97083464 single base substitution G A intron_variant BRCA-EU 10 97083646 97083646 single base substitution A G intron_variant BRCA-EU 10 97084405 97084405 single base substitution C A intron_variant BRCA-EU 10 97085254 97085254 single base substitution G T intron_variant BRCA-EU 10 97086679 97086679 single base substitution C T intron_variant BRCA-EU 10 97086747 97086747 single base substitution G A intron_variant BRCA-EU 10 97089066 97089066 single base substitution C G intron_variant BRCA-EU 10 97089626 97089626 single base substitution C G intron_variant BRCA-EU 10 97092201 97092201 single base substitution T G intron_variant BRCA-EU 10 97092589 97092589 single base substitution G A intron_variant BRCA-EU 10 97093845 97093845 single base substitution T A intron_variant BRCA-EU 10 97094403 97094403 single base substitution G A intron_variant BRCA-EU 10 97095025 97095025 single base substitution G A intron_variant BRCA-EU 10 97095042 97095042 single base substitution G C intron_variant BRCA-EU 10 97097814 97097814 single base substitution C T downstream_gene_variant BRCA-EU 10 97097814 97097814 single base substitution C T intron_variant BRCA-EU 10 97098582 97098582 single base substitution C A downstream_gene_variant BRCA-EU 10 97098582 97098582 single base substitution C A intron_variant BRCA-EU 10 97100647 97100647 single base substitution G C downstream_gene_variant BRCA-EU 10 97100647 97100647 single base substitution G C intron_variant BRCA-EU 10 97104346 97104346 single base substitution G A intron_variant BRCA-EU 10 97104576 97104576 deletion of <=200bp T - intron_variant BRCA-EU 10 97104718 97104718 deletion of <=200bp A - intron_variant BRCA-EU 10 97106207 97106207 single base substitution C T missense_variant M1055I 3165G>A BRCA-EU 10 97106207 97106207 single base substitution C T missense_variant M169I 507G>A BRCA-EU 10 97106207 97106207 single base substitution C T missense_variant M445I 1335G>A BRCA-EU 10 97106207 97106207 single base substitution C T missense_variant M542I 1626G>A BRCA-EU 10 97106207 97106207 single base substitution C T missense_variant M572I 1716G>A BRCA-EU 10 97106207 97106207 single base substitution C T missense_variant M577I 1731G>A BRCA-EU 10 97106207 97106207 single base substitution C T missense_variant M607I 1821G>A BRCA-EU 10 97106207 97106207 single base substitution C T missense_variant M646I 1938G>A BRCA-EU 10 97106207 97106207 single base substitution C T missense_variant M749I 2247G>A BRCA-EU 10 97106207 97106207 single base substitution C T missense_variant M765I 2295G>A BRCA-EU 10 97106207 97106207 single base substitution C T missense_variant M795I 2385G>A BRCA-EU 10 97106207 97106207 single base substitution C T missense_variant M817I 2451G>A BRCA-EU 10 97106207 97106207 single base substitution C T splice_region_variant BRCA-EU 10 97106921 97106921 single base substitution G C intron_variant BRCA-EU 10 97107462 97107462 single base substitution G A intron_variant BRCA-EU 10 97107488 97107488 single base substitution C T intron_variant BRCA-EU 10 97107622 97107622 single base substitution G C intron_variant BRCA-EU 10 97108758 97108758 single base substitution G A intron_variant BRCA-EU 10 97110171 97110171 single base substitution A C intron_variant BRCA-EU 10 97115584 97115584 single base substitution C G intron_variant BRCA-EU 10 97115584 97115584 single base substitution C G missense_variant G73A 218G>C BRCA-EU 10 97115584 97115584 single base substitution C G missense_variant G903A 2708G>C BRCA-EU 10 97115777 97115777 single base substitution G A intron_variant BRCA-EU 10 97115777 97115777 single base substitution G A missense_variant R839C 2515C>T BRCA-EU 10 97115777 97115777 single base substitution G A missense_variant R9C 25C>T BRCA-EU 10 97115891 97115891 single base substitution C G intron_variant BRCA-EU 10 97115891 97115891 single base substitution C G missense_variant D801H 2401G>C BRCA-EU 10 97115891 97115891 single base substitution C G upstream_gene_variant BRCA-EU 10 97116440 97116440 single base substitution C G intron_variant BRCA-EU 10 97116440 97116440 single base substitution C G missense_variant G618R 1852G>C BRCA-EU 10 97116440 97116440 single base substitution C G upstream_gene_variant BRCA-EU 10 97118426 97118426 insertion of <=200bp - CA intron_variant BRCA-EU 10 97118426 97118426 insertion of <=200bp - CA upstream_gene_variant BRCA-EU 10 97120453 97120453 single base substitution C G intron_variant BRCA-EU 10 97120453 97120453 single base substitution C G upstream_gene_variant BRCA-EU 10 97122068 97122068 single base substitution T C intron_variant BRCA-EU 10 97124201 97124201 single base substitution G T intron_variant BRCA-EU 10 97124593 97124593 single base substitution C T intron_variant BRCA-EU 10 97125095 97125095 single base substitution G A intron_variant BRCA-EU 10 97126080 97126080 single base substitution G A intron_variant BRCA-EU 10 97127077 97127077 single base substitution G T intron_variant BRCA-EU 10 97127741 97127741 single base substitution G A intron_variant BRCA-EU 10 97131531 97131531 single base substitution G A intron_variant BRCA-EU 10 97132620 97132620 single base substitution T G intron_variant BRCA-EU 10 97133351 97133351 single base substitution C T intron_variant BRCA-EU 10 97134314 97134314 insertion of <=200bp - T intron_variant BRCA-EU 10 97136485 97136485 single base substitution C T downstream_gene_variant BRCA-EU 10 97136485 97136485 single base substitution C T intron_variant BRCA-EU 10 97137257 97137259 deletion of <=200bp CTT - downstream_gene_variant BRCA-EU 10 97137257 97137259 deletion of <=200bp CTT - intron_variant BRCA-EU 10 97138030 97138030 deletion of <=200bp A - downstream_gene_variant BRCA-EU 10 97138030 97138030 deletion of <=200bp A - intron_variant BRCA-EU 10 97140157 97140157 single base substitution G A downstream_gene_variant BRCA-EU 10 97140157 97140157 single base substitution G A intron_variant BRCA-EU 10 97140856 97140856 deletion of <=200bp T - downstream_gene_variant BRCA-EU 10 97140856 97140856 deletion of <=200bp T - intron_variant BRCA-EU 10 97140950 97140950 deletion of <=200bp A - downstream_gene_variant BRCA-EU 10 97140950 97140950 deletion of <=200bp A - intron_variant BRCA-EU 10 97143305 97143305 single base substitution T C downstream_gene_variant BRCA-EU 10 97143305 97143305 single base substitution T C intron_variant BRCA-EU 10 97145474 97145474 single base substitution C G intron_variant BRCA-EU 10 97145474 97145474 single base substitution C G upstream_gene_variant BRCA-EU 10 97146738 97146738 single base substitution C G intron_variant BRCA-EU 10 97146738 97146738 single base substitution C G upstream_gene_variant BRCA-EU 10 97149243 97149243 single base substitution C A intron_variant BRCA-EU 10 97152620 97152620 single base substitution G A intron_variant BRCA-EU 10 97153525 97153525 single base substitution A G intron_variant BRCA-EU 10 97153745 97153745 single base substitution G C intron_variant BRCA-EU 10 97159082 97159082 single base substitution C G intron_variant BRCA-EU 10 97161289 97161289 single base substitution G A intron_variant BRCA-EU 10 97161508 97161508 single base substitution C T intron_variant BRCA-EU 10 97161692 97161692 single base substitution C T intron_variant BRCA-EU 10 97161939 97161939 single base substitution C A intron_variant BRCA-EU 10 97162287 97162287 single base substitution C G intron_variant BRCA-EU 10 97162852 97162852 single base substitution T A intron_variant BRCA-EU 10 97162958 97162958 single base substitution T A intron_variant BRCA-EU 10 97165559 97165559 single base substitution A C intron_variant BRCA-EU 10 97166830 97166830 single base substitution C T intron_variant BRCA-EU 10 97167438 97167438 single base substitution A G intron_variant BRCA-EU 10 97168397 97168397 single base substitution G C intron_variant BRCA-EU 10 97168843 97168843 single base substitution C G intron_variant BRCA-EU 10 97169012 97169012 single base substitution A T intron_variant BRCA-EU 10 97175926 97175926 single base substitution C A exon_variant BRCA-EU 10 97175926 97175926 single base substitution C A intron_variant BRCA-EU 10 97175926 97175926 single base substitution C A upstream_gene_variant BRCA-EU 10 97176076 97176076 single base substitution G T intron_variant BRCA-EU 10 97176076 97176076 single base substitution G T upstream_gene_variant BRCA-EU 10 97176493 97176493 single base substitution G C intron_variant BRCA-EU 10 97176493 97176493 single base substitution G C upstream_gene_variant BRCA-EU 10 97176503 97176503 single base substitution G A intron_variant BRCA-EU 10 97176503 97176503 single base substitution G A upstream_gene_variant BRCA-EU 10 97176641 97176641 single base substitution G A intron_variant BRCA-EU 10 97176641 97176641 single base substitution G A upstream_gene_variant BRCA-EU 10 97176643 97176643 single base substitution G A intron_variant BRCA-EU 10 97176643 97176643 single base substitution G A upstream_gene_variant BRCA-EU 10 97177721 97177721 single base substitution C T intron_variant BRCA-EU 10 97177721 97177721 single base substitution C T upstream_gene_variant BRCA-EU 10 97178550 97178550 single base substitution C G intron_variant BRCA-EU 10 97178550 97178550 single base substitution C G upstream_gene_variant BRCA-EU 10 97181411 97181411 single base substitution T C intron_variant BRCA-EU 10 97185610 97185610 single base substitution G C intron_variant BRCA-EU 10 97185814 97185814 single base substitution C G intron_variant BRCA-EU 10 97186845 97186845 single base substitution G A intron_variant BRCA-EU 10 97191204 97191204 single base substitution C T intron_variant BRCA-EU 10 97191927 97191927 single base substitution G C intron_variant BRCA-EU 10 97193306 97193306 single base substitution A C intron_variant BRCA-EU 10 97193340 97193340 single base substitution C T intron_variant BRCA-EU 10 97194895 97194895 single base substitution C T intron_variant BRCA-EU 10 97196593 97196593 single base substitution C A intron_variant BRCA-EU 10 97196724 97196724 single base substitution C T intron_variant BRCA-EU 10 97197246 97197246 single base substitution C A splice_donor_variant BRCA-EU 10 97197840 97197840 single base substitution A G intron_variant BRCA-EU 10 97198518 97198518 single base substitution T C intron_variant BRCA-EU 10 97198925 97198925 single base substitution A T intron_variant BRCA-EU 10 97201161 97201161 single base substitution C G intron_variant BRCA-EU 10 97201161 97201161 single base substitution C G upstream_gene_variant BRCA-EU 10 97201507 97201507 single base substitution A T intron_variant BRCA-EU 10 97201507 97201507 single base substitution A T upstream_gene_variant BRCA-EU 10 97202169 97202169 single base substitution G A intron_variant BRCA-EU 10 97202169 97202169 single base substitution G A upstream_gene_variant BRCA-EU 10 97202354 97202354 single base substitution C T intron_variant BRCA-EU 10 97202354 97202354 single base substitution C T upstream_gene_variant BRCA-EU 10 97202825 97202825 single base substitution A T intron_variant BRCA-EU 10 97202825 97202825 single base substitution A T upstream_gene_variant BRCA-EU 10 97202936 97202936 single base substitution G A intron_variant BRCA-EU 10 97202936 97202936 single base substitution G A upstream_gene_variant BRCA-EU 10 97202990 97202990 single base substitution G A intron_variant BRCA-EU 10 97202990 97202990 single base substitution G A upstream_gene_variant BRCA-EU 10 97205356 97205356 single base substitution G A intron_variant BRCA-EU 10 97205356 97205356 single base substitution G A upstream_gene_variant BRCA-EU 10 97206112 97206112 single base substitution C G intron_variant BRCA-EU 10 97207613 97207613 single base substitution C A intron_variant BRCA-EU 10 97208173 97208173 single base substitution T A intron_variant BRCA-EU 10 97209060 97209060 single base substitution C T intron_variant BRCA-EU 10 97209811 97209813 deletion of <=200bp TAT - intron_variant BRCA-EU 10 97210221 97210221 single base substitution G A intron_variant BRCA-EU 10 97211612 97211612 deletion of <=200bp A - intron_variant BRCA-EU 10 97212173 97212174 deletion of <=200bp CC - intron_variant BRCA-EU 10 97212182 97212182 single base substitution C T intron_variant BRCA-EU 10 97213042 97213042 single base substitution C T intron_variant BRCA-EU 10 97213567 97213586 deletion of <=200bp TGTGAGTACTGCAGGGCCCG - intron_variant BRCA-EU 10 97215359 97215359 deletion of <=200bp T - intron_variant BRCA-EU 10 97217149 97217149 single base substitution G A intron_variant BRCA-EU 10 97218799 97218799 single base substitution T A intron_variant BRCA-EU 10 97218876 97218876 single base substitution C A intron_variant BRCA-EU 10 97225082 97225082 single base substitution G C intron_variant BRCA-EU 10 97225706 97225706 single base substitution C T intron_variant BRCA-EU 10 97225980 97225980 single base substitution C T intron_variant BRCA-EU 10 97226802 97226802 single base substitution C G intron_variant BRCA-EU 10 97228075 97228075 single base substitution C T intron_variant BRCA-EU 10 97228535 97228535 single base substitution C T intron_variant BRCA-EU 10 97231944 97231955 deletion of <=200bp GTAAATATTTAA - intron_variant BRCA-EU 10 97233822 97233822 deletion of <=200bp A - intron_variant BRCA-EU 10 97234416 97234416 single base substitution C G intron_variant BRCA-EU 10 97235657 97235657 single base substitution G A intron_variant BRCA-EU 10 97236550 97236550 single base substitution A G intron_variant BRCA-EU 10 97236763 97236763 single base substitution A G intron_variant BRCA-EU 10 97238063 97238063 single base substitution C T intron_variant BRCA-EU 10 97238455 97238455 deletion of <=200bp C - intron_variant BRCA-EU 10 97238545 97238545 single base substitution G C intron_variant BRCA-EU 10 97239271 97239271 single base substitution T C intron_variant BRCA-EU 10 97240635 97240635 single base substitution G A intron_variant BRCA-EU 10 97241281 97241281 single base substitution C T intron_variant BRCA-EU 10 97241483 97241483 single base substitution A T intron_variant BRCA-EU 10 97241711 97241711 single base substitution A C intron_variant BRCA-EU 10 97242175 97242175 single base substitution G A intron_variant BRCA-EU 10 97244650 97244650 single base substitution G C intron_variant BRCA-EU 10 97244650 97244650 single base substitution G C upstream_gene_variant BRCA-EU 10 97247961 97247961 single base substitution G A downstream_gene_variant BRCA-EU 10 97247961 97247961 single base substitution G A intron_variant BRCA-EU 10 97248344 97248344 single base substitution C T downstream_gene_variant BRCA-EU 10 97248344 97248344 single base substitution C T intron_variant BRCA-EU 10 97249101 97249101 single base substitution C G downstream_gene_variant BRCA-EU 10 97249101 97249101 single base substitution C G intron_variant BRCA-EU 10 97251020 97251020 single base substitution C G intron_variant BRCA-EU 10 97251074 97251074 single base substitution A T intron_variant BRCA-EU 10 97251274 97251274 single base substitution G C intron_variant BRCA-EU 10 97251789 97251789 single base substitution T A intron_variant BRCA-EU 10 97254589 97254589 single base substitution T A intron_variant BRCA-EU 10 97254589 97254589 single base substitution T A upstream_gene_variant BRCA-EU 10 97254601 97254601 single base substitution T C intron_variant BRCA-EU 10 97254601 97254601 single base substitution T C upstream_gene_variant BRCA-EU 10 97254916 97254916 single base substitution A C intron_variant BRCA-EU 10 97254916 97254916 single base substitution A C upstream_gene_variant BRCA-EU 10 97256237 97256237 single base substitution T C intron_variant BRCA-EU 10 97256237 97256237 single base substitution T C upstream_gene_variant BRCA-EU 10 97256407 97256407 deletion of <=200bp A - intron_variant BRCA-EU 10 97256407 97256407 deletion of <=200bp A - upstream_gene_variant BRCA-EU 10 97258450 97258450 deletion of <=200bp T - intron_variant BRCA-EU 10 97263312 97263312 single base substitution C G intron_variant BRCA-EU 10 97265306 97265306 single base substitution G A intron_variant BRCA-EU 10 97267883 97267883 single base substitution T A intron_variant BRCA-EU 10 97268091 97268091 single base substitution C T intron_variant BRCA-EU 10 97268281 97268281 single base substitution G A intron_variant BRCA-EU 10 97269060 97269060 single base substitution C G intron_variant BRCA-EU 10 97269609 97269609 single base substitution A T intron_variant BRCA-EU 10 97270259 97270259 single base substitution T G intron_variant BRCA-EU 10 97272557 97272557 single base substitution A G intron_variant BRCA-EU 10 97273100 97273100 single base substitution G T intron_variant BRCA-EU 10 97273679 97273679 single base substitution G C intron_variant BRCA-EU 10 97275351 97275351 single base substitution C T intron_variant BRCA-EU 10 97276212 97276212 single base substitution G C intron_variant BRCA-EU 10 97277200 97277200 single base substitution G A intron_variant BRCA-EU 10 97277319 97277319 single base substitution C A intron_variant BRCA-EU 10 97277447 97277447 single base substitution G C intron_variant BRCA-EU 10 97279990 97279990 single base substitution G A intron_variant BRCA-EU 10 97280565 97280565 insertion of <=200bp - G intron_variant BRCA-EU 10 97280801 97280801 insertion of <=200bp - AC intron_variant BRCA-EU 10 97280828 97280828 single base substitution C A intron_variant BRCA-EU 10 97281112 97281112 single base substitution C T intron_variant BRCA-EU 10 97281554 97281554 single base substitution C T intron_variant BRCA-EU 10 97283685 97283685 single base substitution T C intron_variant BRCA-EU 10 97285040 97285040 single base substitution T G intron_variant BRCA-EU 10 97285900 97285900 single base substitution T C intron_variant BRCA-EU 10 97286693 97286693 single base substitution C A intron_variant BRCA-EU 10 97286876 97286876 single base substitution C A intron_variant BRCA-EU 10 97288247 97288247 single base substitution C T intron_variant BRCA-EU 10 97290968 97290968 single base substitution G A intron_variant BRCA-EU 10 97291392 97291392 single base substitution G A intron_variant BRCA-EU 10 97292250 97292250 single base substitution G T intron_variant BRCA-EU 10 97292449 97292449 single base substitution A G intron_variant BRCA-EU 10 97295240 97295240 single base substitution A G intron_variant BRCA-EU 10 97295290 97295290 insertion of <=200bp - AT intron_variant BRCA-EU 10 97295368 97295368 single base substitution A C intron_variant BRCA-EU 10 97296094 97296094 single base substitution C T intron_variant BRCA-EU 10 97297616 97297616 single base substitution C A intron_variant BRCA-EU 10 97297628 97297628 single base substitution C T intron_variant BRCA-EU 10 97298623 97298623 single base substitution T A intron_variant BRCA-EU 10 97302544 97302544 single base substitution C T intron_variant BRCA-EU 10 97306870 97306870 single base substitution G T intron_variant BRCA-EU 10 97307758 97307758 single base substitution G C intron_variant BRCA-EU 10 97308413 97308413 single base substitution T C intron_variant BRCA-EU 10 97309818 97309818 single base substitution C T intron_variant BRCA-EU 10 97309855 97309855 single base substitution G A intron_variant BRCA-EU 10 97310041 97310041 single base substitution G T intron_variant BRCA-EU 10 97310108 97310108 single base substitution G A intron_variant BRCA-EU 10 97312426 97312426 single base substitution A G intron_variant BRCA-EU 10 97312700 97312700 single base substitution G A intron_variant BRCA-EU 10 97318053 97318053 single base substitution C T intron_variant BRCA-EU 10 97318171 97318171 single base substitution C T intron_variant BRCA-EU 10 97318585 97318585 deletion of <=200bp A - intron_variant BRCA-EU 10 97319853 97319853 deletion of <=200bp T - intron_variant BRCA-EU 10 97320286 97320286 single base substitution C G intron_variant BRCA-EU 10 97321063 97321063 single base substitution G A intron_variant BRCA-EU 10 97321336 97321336 single base substitution G A upstream_gene_variant BRCA-EU 10 97323222 97323222 single base substitution C G upstream_gene_variant BRCA-EU 10 97325150 97325150 single base substitution C G upstream_gene_variant BRCA-EU 10 97326037 97326037 single base substitution C T upstream_gene_variant BRCA-FR 10 97077059 97077059 single base substitution G C intron_variant BRCA-FR 10 97078037 97078037 single base substitution C T intron_variant BRCA-FR 10 97078655 97078655 single base substitution C T intron_variant BRCA-FR 10 97079960 97079960 single base substitution C G intron_variant BRCA-FR 10 97080011 97080011 single base substitution C T intron_variant BRCA-FR 10 97081829 97081829 single base substitution G C intron_variant BRCA-FR 10 97082044 97082044 single base substitution A T intron_variant BRCA-FR 10 97088903 97088903 single base substitution C T intron_variant BRCA-FR 10 97100647 97100647 single base substitution G C downstream_gene_variant BRCA-FR 10 97100647 97100647 single base substitution G C intron_variant BRCA-FR 10 97106207 97106207 single base substitution C T missense_variant M1055I 3165G>A BRCA-FR 10 97106207 97106207 single base substitution C T missense_variant M169I 507G>A BRCA-FR 10 97106207 97106207 single base substitution C T missense_variant M445I 1335G>A BRCA-FR 10 97106207 97106207 single base substitution C T missense_variant M542I 1626G>A BRCA-FR 10 97106207 97106207 single base substitution C T missense_variant M572I 1716G>A BRCA-FR 10 97106207 97106207 single base substitution C T missense_variant M577I 1731G>A BRCA-FR 10 97106207 97106207 single base substitution C T missense_variant M607I 1821G>A BRCA-FR 10 97106207 97106207 single base substitution C T missense_variant M646I 1938G>A BRCA-FR 10 97106207 97106207 single base substitution C T missense_variant M749I 2247G>A BRCA-FR 10 97106207 97106207 single base substitution C T missense_variant M765I 2295G>A BRCA-FR 10 97106207 97106207 single base substitution C T missense_variant M795I 2385G>A BRCA-FR 10 97106207 97106207 single base substitution C T missense_variant M817I 2451G>A BRCA-FR 10 97106207 97106207 single base substitution C T splice_region_variant BRCA-FR 10 97115891 97115891 single base substitution C G intron_variant BRCA-FR 10 97115891 97115891 single base substitution C G missense_variant D801H 2401G>C BRCA-FR 10 97115891 97115891 single base substitution C G upstream_gene_variant BRCA-FR 10 97122040 97122040 single base substitution G T intron_variant BRCA-FR 10 97123937 97123937 single base substitution G A intron_variant BRCA-FR 10 97146738 97146738 single base substitution C G intron_variant BRCA-FR 10 97146738 97146738 single base substitution C G upstream_gene_variant BRCA-FR 10 97206709 97206709 single base substitution A C intron_variant BRCA-FR 10 97208173 97208173 single base substitution T A intron_variant BRCA-FR 10 97209060 97209060 single base substitution C T intron_variant BRCA-FR 10 97220361 97220361 single base substitution C T intron_variant BRCA-FR 10 97226802 97226802 single base substitution C G intron_variant BRCA-FR 10 97235787 97235787 single base substitution C A intron_variant BRCA-FR 10 97238545 97238545 single base substitution G C intron_variant BRCA-FR 10 97240635 97240635 single base substitution G A intron_variant BRCA-FR 10 97249101 97249101 single base substitution C G downstream_gene_variant BRCA-FR 10 97249101 97249101 single base substitution C G intron_variant BRCA-FR 10 97263857 97263857 single base substitution C A intron_variant BRCA-FR 10 97266068 97266068 single base substitution C T intron_variant BRCA-FR 10 97268281 97268281 single base substitution G A intron_variant BRCA-FR 10 97269060 97269060 single base substitution C G intron_variant BRCA-FR 10 97270259 97270259 single base substitution T G intron_variant BRCA-FR 10 97271046 97271046 single base substitution C G intron_variant BRCA-FR 10 97273100 97273100 single base substitution G T intron_variant BRCA-FR 10 97276212 97276212 single base substitution G C intron_variant BRCA-FR 10 97277319 97277319 single base substitution C A intron_variant BRCA-FR 10 97277447 97277447 single base substitution G C intron_variant BRCA-FR 10 97278623 97278623 single base substitution G A intron_variant BRCA-FR 10 97307903 97307903 single base substitution G C intron_variant BRCA-FR 10 97309855 97309855 single base substitution G A intron_variant BRCA-FR 10 97321336 97321336 single base substitution G A upstream_gene_variant BRCA-UK 10 97071151 97071151 single base substitution G A downstream_gene_variant BRCA-UK 10 97104809 97104809 single base substitution C G intron_variant BRCA-UK 10 97112347 97112347 single base substitution G A intron_variant BRCA-UK 10 97115171 97115171 single base substitution C G intron_variant BRCA-UK 10 97115739 97115739 single base substitution C T intron_variant BRCA-UK 10 97115739 97115739 single base substitution C T synonymous_variant R21R 63G>A BRCA-UK 10 97115739 97115739 single base substitution C T synonymous_variant R851R 2553G>A BRCA-UK 10 97117552 97117552 single base substitution G C exon_variant BRCA-UK 10 97117552 97117552 single base substitution G C missense_variant S361C 1082C>G BRCA-UK 10 97117552 97117552 single base substitution G C missense_variant S402C 1205C>G BRCA-UK 10 97117552 97117552 single base substitution G C missense_variant S422C 1265C>G BRCA-UK 10 97117552 97117552 single base substitution G C missense_variant S432C 1295C>G BRCA-UK 10 97117552 97117552 single base substitution G C missense_variant S467C 1400C>G BRCA-UK 10 97117552 97117552 single base substitution G C missense_variant S493C 1478C>G BRCA-UK 10 97117552 97117552 single base substitution G C missense_variant S506C 1517C>G BRCA-UK 10 97117552 97117552 single base substitution G C missense_variant S609C 1826C>G BRCA-UK 10 97117552 97117552 single base substitution G C missense_variant S625C 1874C>G BRCA-UK 10 97117552 97117552 single base substitution G C missense_variant S655C 1964C>G BRCA-UK 10 97117552 97117552 single base substitution G C missense_variant S677C 2030C>G BRCA-UK 10 97117552 97117552 single base substitution G C upstream_gene_variant BRCA-UK 10 97118165 97118165 single base substitution A C intron_variant BRCA-UK 10 97118165 97118165 single base substitution A C upstream_gene_variant BRCA-UK 10 97130251 97130251 single base substitution C T intron_variant BRCA-UK 10 97133351 97133351 single base substitution C T intron_variant BRCA-UK 10 97162287 97162287 single base substitution C G intron_variant BRCA-UK 10 97165559 97165559 single base substitution A C intron_variant BRCA-UK 10 97174246 97174254 deletion of <=200bp CTTACGGTA - downstream_gene_variant BRCA-UK 10 97174246 97174254 deletion of <=200bp CTTACGGTA - frameshift_variant ST200 BRCA-UK 10 97174246 97174254 deletion of <=200bp CTTACGGTA - frameshift_variant ST237 BRCA-UK 10 97174246 97174254 deletion of <=200bp CTTACGGTA - frameshift_variant ST260 BRCA-UK 10 97174246 97174254 deletion of <=200bp CTTACGGTA - frameshift_variant ST269 BRCA-UK 10 97174246 97174254 deletion of <=200bp CTTACGGTA - intron_variant BRCA-UK 10 97174246 97174254 deletion of <=200bp CTTACGGTA - splice_donor_variant BRCA-UK 10 97174246 97174254 deletion of <=200bp CTTACGGTA - upstream_gene_variant BRCA-UK 10 97184338 97184338 single base substitution G C intron_variant BRCA-UK 10 97184352 97184352 single base substitution T G intron_variant BRCA-UK 10 97186845 97186845 single base substitution G A intron_variant BRCA-UK 10 97202825 97202825 single base substitution A T intron_variant BRCA-UK 10 97202825 97202825 single base substitution A T upstream_gene_variant BRCA-UK 10 97207613 97207613 single base substitution C A intron_variant BRCA-UK 10 97213567 97213586 deletion of <=200bp TGTGAGTACTGCAGGGCCCG - intron_variant BRCA-UK 10 97307648 97307648 single base substitution G A intron_variant BRCA-UK 10 97310108 97310108 single base substitution G A intron_variant BRCA-UK 10 97315403 97315403 single base substitution G A intron_variant BRCA-UK 10 97318993 97318993 single base substitution G C intron_variant BRCA-US 10 97074670 97074670 single base substitution T G 3_prime_UTR_variant BRCA-US 10 97074670 97074670 single base substitution T G downstream_gene_variant BRCA-US 10 97096374 97096374 single base substitution C G downstream_gene_variant BRCA-US 10 97096374 97096374 single base substitution C G intron_variant BRCA-US 10 97096374 97096374 single base substitution C G synonymous_variant L1040L 3120G>C BRCA-US 10 97096374 97096374 single base substitution C G synonymous_variant L1135L 3405G>C BRCA-US 10 97096374 97096374 single base substitution C G synonymous_variant L1181L 3543G>C BRCA-US 10 97096417 97096417 single base substitution G C downstream_gene_variant BRCA-US 10 97096417 97096417 single base substitution G C intron_variant BRCA-US 10 97096417 97096417 single base substitution G C stop_gained S1026* 3077C>G BRCA-US 10 97096417 97096417 single base substitution G C stop_gained S1121* 3362C>G BRCA-US 10 97096417 97096417 single base substitution G C stop_gained S1167* 3500C>G BRCA-US 10 97096790 97096790 single base substitution G A downstream_gene_variant BRCA-US 10 97096790 97096790 single base substitution G A intron_variant BRCA-US 10 97096790 97096790 single base substitution G A missense_variant R1043C 3127C>T BRCA-US 10 97096790 97096790 single base substitution G A missense_variant R997C 2989C>T BRCA-US 10 97101164 97101164 single base substitution G C downstream_gene_variant BRCA-US 10 97101164 97101164 single base substitution G C missense_variant L1110V 3328C>G BRCA-US 10 97101164 97101164 single base substitution G C missense_variant L500V 1498C>G BRCA-US 10 97101164 97101164 single base substitution G C missense_variant L597V 1789C>G BRCA-US 10 97101164 97101164 single base substitution G C missense_variant L627V 1879C>G BRCA-US 10 97101164 97101164 single base substitution G C missense_variant L632V 1894C>G BRCA-US 10 97101164 97101164 single base substitution G C missense_variant L662V 1984C>G BRCA-US 10 97101164 97101164 single base substitution G C missense_variant L701V 2101C>G BRCA-US 10 97101164 97101164 single base substitution G C missense_variant L804V 2410C>G BRCA-US 10 97101164 97101164 single base substitution G C missense_variant L820V 2458C>G BRCA-US 10 97101164 97101164 single base substitution G C missense_variant L850V 2548C>G BRCA-US 10 97101164 97101164 single base substitution G C missense_variant L872V 2614C>G BRCA-US 10 97106171 97106171 single base substitution C T exon_variant BRCA-US 10 97106171 97106171 single base substitution C T synonymous_variant Q1067Q 3201G>A BRCA-US 10 97106171 97106171 single base substitution C T synonymous_variant Q181Q 543G>A BRCA-US 10 97106171 97106171 single base substitution C T synonymous_variant Q457Q 1371G>A BRCA-US 10 97106171 97106171 single base substitution C T synonymous_variant Q554Q 1662G>A BRCA-US 10 97106171 97106171 single base substitution C T synonymous_variant Q584Q 1752G>A BRCA-US 10 97106171 97106171 single base substitution C T synonymous_variant Q589Q 1767G>A BRCA-US 10 97106171 97106171 single base substitution C T synonymous_variant Q619Q 1857G>A BRCA-US 10 97106171 97106171 single base substitution C T synonymous_variant Q658Q 1974G>A BRCA-US 10 97106171 97106171 single base substitution C T synonymous_variant Q761Q 2283G>A BRCA-US 10 97106171 97106171 single base substitution C T synonymous_variant Q777Q 2331G>A BRCA-US 10 97106171 97106171 single base substitution C T synonymous_variant Q807Q 2421G>A BRCA-US 10 97106171 97106171 single base substitution C T synonymous_variant Q829Q 2487G>A BRCA-US 10 97110968 97110968 single base substitution C T intron_variant BRCA-US 10 97110968 97110968 single base substitution C T missense_variant E1054K 3160G>A BRCA-US 10 97110968 97110968 single base substitution C T missense_variant E541K 1621G>A BRCA-US 10 97110968 97110968 single base substitution C T missense_variant E571K 1711G>A BRCA-US 10 97110968 97110968 single base substitution C T missense_variant E606K 1816G>A BRCA-US 10 97110968 97110968 single base substitution C T missense_variant E645K 1933G>A BRCA-US 10 97110968 97110968 single base substitution C T missense_variant E748K 2242G>A BRCA-US 10 97110968 97110968 single base substitution C T missense_variant E764K 2290G>A BRCA-US 10 97110968 97110968 single base substitution C T missense_variant E794K 2380G>A BRCA-US 10 97110968 97110968 single base substitution C T missense_variant E816K 2446G>A BRCA-US 10 97110968 97110968 single base substitution C T splice_region_variant BRCA-US 10 97117484 97117484 single base substitution C T exon_variant BRCA-US 10 97117484 97117484 single base substitution C T missense_variant E384K 1150G>A BRCA-US 10 97117484 97117484 single base substitution C T missense_variant E425K 1273G>A BRCA-US 10 97117484 97117484 single base substitution C T missense_variant E445K 1333G>A BRCA-US 10 97117484 97117484 single base substitution C T missense_variant E455K 1363G>A BRCA-US 10 97117484 97117484 single base substitution C T missense_variant E490K 1468G>A BRCA-US 10 97117484 97117484 single base substitution C T missense_variant E516K 1546G>A BRCA-US 10 97117484 97117484 single base substitution C T missense_variant E529K 1585G>A BRCA-US 10 97117484 97117484 single base substitution C T missense_variant E632K 1894G>A BRCA-US 10 97117484 97117484 single base substitution C T missense_variant E648K 1942G>A BRCA-US 10 97117484 97117484 single base substitution C T missense_variant E678K 2032G>A BRCA-US 10 97117484 97117484 single base substitution C T missense_variant E700K 2098G>A BRCA-US 10 97117484 97117484 single base substitution C T upstream_gene_variant BRCA-US 10 97141537 97141537 single base substitution C T downstream_gene_variant BRCA-US 10 97141537 97141537 single base substitution C T exon_variant BRCA-US 10 97141537 97141537 single base substitution C T missense_variant D309N 925G>A BRCA-US 10 97141537 97141537 single base substitution C T missense_variant D310N 928G>A BRCA-US 10 97141537 97141537 single base substitution C T missense_variant D319N 955G>A BRCA-US 10 97141537 97141537 single base substitution C T missense_variant D351N 1051G>A BRCA-US 10 97141537 97141537 single base substitution C T missense_variant D388N 1162G>A BRCA-US 10 97141537 97141537 single base substitution C T missense_variant D405N 1213G>A BRCA-US 10 97141537 97141537 single base substitution C T missense_variant D442N 1324G>A BRCA-US 10 97141537 97141537 single base substitution C T missense_variant D474N 1420G>A BRCA-US 10 97141537 97141537 single base substitution C T missense_variant D490N 1468G>A BRCA-US 10 97141537 97141537 single base substitution C T missense_variant D520N 1558G>A BRCA-US 10 97141537 97141537 single base substitution C T missense_variant D542N 1624G>A BRCA-US 10 97157022 97157022 single base substitution C T downstream_gene_variant BRCA-US 10 97157022 97157022 single base substitution C T exon_variant BRCA-US 10 97157022 97157022 single base substitution C T missense_variant D228N 682G>A BRCA-US 10 97157022 97157022 single base substitution C T missense_variant D229N 685G>A BRCA-US 10 97157022 97157022 single base substitution C T missense_variant D238N 712G>A BRCA-US 10 97157022 97157022 single base substitution C T missense_variant D261N 781G>A BRCA-US 10 97157022 97157022 single base substitution C T missense_variant D270N 808G>A BRCA-US 10 97157022 97157022 single base substitution C T missense_variant D324N 970G>A BRCA-US 10 97157022 97157022 single base substitution C T missense_variant D361N 1081G>A BRCA-US 10 97157022 97157022 single base substitution C T missense_variant D384N 1150G>A BRCA-US 10 97157022 97157022 single base substitution C T missense_variant D393N 1177G>A BRCA-US 10 97170460 97170460 single base substitution G A downstream_gene_variant BRCA-US 10 97170460 97170460 single base substitution G A exon_variant BRCA-US 10 97170460 97170460 single base substitution G A synonymous_variant S100S 300C>T BRCA-US 10 97170460 97170460 single base substitution G A synonymous_variant S131S 393C>T BRCA-US 10 97170460 97170460 single base substitution G A synonymous_variant S140S 420C>T BRCA-US 10 97170460 97170460 single base substitution G A synonymous_variant S163S 489C>T BRCA-US 10 97170460 97170460 single base substitution G A synonymous_variant S172S 516C>T BRCA-US 10 97170460 97170460 single base substitution G A synonymous_variant S226S 678C>T BRCA-US 10 97170460 97170460 single base substitution G A synonymous_variant S263S 789C>T BRCA-US 10 97170460 97170460 single base substitution G A synonymous_variant S286S 858C>T BRCA-US 10 97170460 97170460 single base substitution G A synonymous_variant S295S 885C>T BTCA-JP 10 97081870 97081870 single base substitution G T intron_variant BTCA-JP 10 97098810 97098810 single base substitution G C downstream_gene_variant BTCA-JP 10 97098810 97098810 single base substitution G C intron_variant BTCA-JP 10 97116117 97116117 single base substitution C T intron_variant BTCA-JP 10 97116117 97116117 single base substitution C T synonymous_variant S725S 2175G>A BTCA-JP 10 97116117 97116117 single base substitution C T upstream_gene_variant BTCA-JP 10 97131091 97131091 single base substitution C T intron_variant BTCA-JP 10 97131091 97131091 single base substitution C T missense_variant V400M 1198G>A BTCA-JP 10 97131091 97131091 single base substitution C T missense_variant V410M 1228G>A BTCA-JP 10 97131091 97131091 single base substitution C T missense_variant V587M 1759G>A BTCA-JP 10 97131091 97131091 single base substitution C T missense_variant V603M 1807G>A BTCA-JP 10 97131091 97131091 single base substitution C T missense_variant V633M 1897G>A BTCA-JP 10 97131091 97131091 single base substitution C T missense_variant V655M 1963G>A BTCA-JP 10 97146893 97146893 single base substitution C A intron_variant BTCA-JP 10 97146893 97146893 single base substitution C A upstream_gene_variant BTCA-JP 10 97146894 97146894 single base substitution A C intron_variant BTCA-JP 10 97146894 97146894 single base substitution A C upstream_gene_variant BTCA-JP 10 97165980 97165980 single base substitution G A intron_variant BTCA-JP 10 97174420 97174420 single base substitution T C downstream_gene_variant BTCA-JP 10 97174420 97174420 single base substitution T C exon_variant BTCA-JP 10 97174420 97174420 single base substitution T C intron_variant BTCA-JP 10 97174420 97174420 single base substitution T C missense_variant H182R 545A>G BTCA-JP 10 97174420 97174420 single base substitution T C missense_variant H205R 614A>G BTCA-JP 10 97174420 97174420 single base substitution T C missense_variant H214R 641A>G BTCA-JP 10 97174420 97174420 single base substitution T C splice_region_variant BTCA-JP 10 97174420 97174420 single base substitution T C upstream_gene_variant BTCA-JP 10 97174427 97174427 single base substitution G C downstream_gene_variant BTCA-JP 10 97174427 97174427 single base substitution G C exon_variant BTCA-JP 10 97174427 97174427 single base substitution G C intron_variant BTCA-JP 10 97174427 97174427 single base substitution G C missense_variant P180A 538C>G BTCA-JP 10 97174427 97174427 single base substitution G C missense_variant P203A 607C>G BTCA-JP 10 97174427 97174427 single base substitution G C missense_variant P212A 634C>G BTCA-JP 10 97174427 97174427 single base substitution G C upstream_gene_variant BTCA-JP 10 97194559 97194559 single base substitution A G intron_variant CESC-US 10 97096727 97096727 single base substitution G A downstream_gene_variant CESC-US 10 97096727 97096727 single base substitution G A intron_variant CESC-US 10 97096727 97096727 single base substitution G A synonymous_variant L1018L 3052C>T CESC-US 10 97096727 97096727 single base substitution G A synonymous_variant L1064L 3190C>T CESC-US 10 97131130 97131130 single base substitution C G intron_variant CESC-US 10 97131130 97131130 single base substitution C G missense_variant E387Q 1159G>C CESC-US 10 97131130 97131130 single base substitution C G missense_variant E397Q 1189G>C CESC-US 10 97131130 97131130 single base substitution C G missense_variant E574Q 1720G>C CESC-US 10 97131130 97131130 single base substitution C G missense_variant E590Q 1768G>C CESC-US 10 97131130 97131130 single base substitution C G missense_variant E620Q 1858G>C CESC-US 10 97131130 97131130 single base substitution C G missense_variant E642Q 1924G>C CESC-US 10 97135792 97135792 single base substitution C G intron_variant CESC-US 10 97135792 97135792 single base substitution C G missense_variant E348Q 1042G>C CESC-US 10 97135792 97135792 single base substitution C G missense_variant E358Q 1072G>C CESC-US 10 97135792 97135792 single base substitution C G missense_variant E427Q 1279G>C CESC-US 10 97135792 97135792 single base substitution C G missense_variant E444Q 1330G>C CESC-US 10 97135792 97135792 single base substitution C G missense_variant E513Q 1537G>C CESC-US 10 97135792 97135792 single base substitution C G missense_variant E529Q 1585G>C CESC-US 10 97135792 97135792 single base substitution C G missense_variant E559Q 1675G>C CESC-US 10 97135792 97135792 single base substitution C G missense_variant E581Q 1741G>C CESC-US 10 97154431 97154431 single base substitution C T downstream_gene_variant CESC-US 10 97154431 97154431 single base substitution C T intron_variant CESC-US 10 97154431 97154431 single base substitution C T splice_acceptor_variant CESC-US 10 97158831 97158831 single base substitution C T exon_variant CESC-US 10 97158831 97158831 single base substitution C T synonymous_variant V172V 516G>A CESC-US 10 97158831 97158831 single base substitution C T synonymous_variant V202V 606G>A CESC-US 10 97158831 97158831 single base substitution C T synonymous_variant V203V 609G>A CESC-US 10 97158831 97158831 single base substitution C T synonymous_variant V212V 636G>A CESC-US 10 97158831 97158831 single base substitution C T synonymous_variant V235V 705G>A CESC-US 10 97158831 97158831 single base substitution C T synonymous_variant V244V 732G>A CESC-US 10 97158831 97158831 single base substitution C T synonymous_variant V298V 894G>A CESC-US 10 97158831 97158831 single base substitution C T synonymous_variant V335V 1005G>A CESC-US 10 97158831 97158831 single base substitution C T synonymous_variant V358V 1074G>A CESC-US 10 97158831 97158831 single base substitution C T synonymous_variant V367V 1101G>A CESC-US 10 97174291 97174291 single base substitution C G downstream_gene_variant CESC-US 10 97174291 97174291 single base substitution C G exon_variant CESC-US 10 97174291 97174291 single base substitution C G intron_variant CESC-US 10 97174291 97174291 single base substitution C G missense_variant R188T 563G>C CESC-US 10 97174291 97174291 single base substitution C G missense_variant R225T 674G>C CESC-US 10 97174291 97174291 single base substitution C G missense_variant R248T 743G>C CESC-US 10 97174291 97174291 single base substitution C G missense_variant R257T 770G>C CESC-US 10 97174291 97174291 single base substitution C G upstream_gene_variant CESC-US 10 97192313 97192313 insertion of <=200bp - GATTTTT exon_variant CESC-US 10 97192313 97192313 insertion of <=200bp - GATTTTT frameshift_variant C33*KS? CESC-US 10 97192313 97192313 insertion of <=200bp - GATTTTT frameshift_variant C65*KS? CLLE-ES 10 97080756 97080756 single base substitution T C intron_variant CLLE-ES 10 97097680 97097680 single base substitution A G downstream_gene_variant CLLE-ES 10 97097680 97097680 single base substitution A G intron_variant CLLE-ES 10 97122808 97122808 single base substitution T C intron_variant CLLE-ES 10 97146448 97146448 deletion of <=200bp C - intron_variant CLLE-ES 10 97146448 97146448 deletion of <=200bp C - upstream_gene_variant CLLE-ES 10 97148110 97148110 single base substitution G A intron_variant CLLE-ES 10 97148110 97148110 single base substitution G A upstream_gene_variant CLLE-ES 10 97151275 97151275 single base substitution G T intron_variant CLLE-ES 10 97152723 97152723 single base substitution T G intron_variant CLLE-ES 10 97174098 97174098 single base substitution C T downstream_gene_variant CLLE-ES 10 97174098 97174098 single base substitution C T intron_variant CLLE-ES 10 97174098 97174098 single base substitution C T upstream_gene_variant CLLE-ES 10 97177996 97177996 single base substitution G A intron_variant CLLE-ES 10 97177996 97177996 single base substitution G A upstream_gene_variant CLLE-ES 10 97194364 97194364 single base substitution G C intron_variant CLLE-ES 10 97207062 97207062 single base substitution C T intron_variant CLLE-ES 10 97215749 97215749 single base substitution C T intron_variant CLLE-ES 10 97223677 97223677 single base substitution G A intron_variant CLLE-ES 10 97249940 97249940 single base substitution C A downstream_gene_variant CLLE-ES 10 97249940 97249940 single base substitution C A intron_variant CLLE-ES 10 97258330 97258330 single base substitution T A intron_variant CLLE-ES 10 97259925 97259925 single base substitution G T intron_variant CLLE-ES 10 97261051 97261051 single base substitution T C intron_variant CLLE-ES 10 97262744 97262745 deletion of <=200bp AT - intron_variant CLLE-ES 10 97272975 97272975 single base substitution C T intron_variant COAD-US 10 97082546 97082546 single base substitution A C intron_variant COAD-US 10 97082546 97082546 single base substitution A C missense_variant L1173W 3518T>G COAD-US 10 97082546 97082546 single base substitution A C missense_variant L812W 2435T>G COAD-US 10 97099026 97099026 single base substitution G T downstream_gene_variant COAD-US 10 97099026 97099026 single base substitution G T missense_variant P1170Q 3509C>A COAD-US 10 97099026 97099026 single base substitution G T missense_variant P560Q 1679C>A COAD-US 10 97099026 97099026 single base substitution G T missense_variant P657Q 1970C>A COAD-US 10 97099026 97099026 single base substitution G T missense_variant P687Q 2060C>A COAD-US 10 97099026 97099026 single base substitution G T missense_variant P692Q 2075C>A COAD-US 10 97099026 97099026 single base substitution G T missense_variant P722Q 2165C>A COAD-US 10 97099026 97099026 single base substitution G T missense_variant P761Q 2282C>A COAD-US 10 97099026 97099026 single base substitution G T missense_variant P864Q 2591C>A COAD-US 10 97099026 97099026 single base substitution G T missense_variant P880Q 2639C>A COAD-US 10 97099026 97099026 single base substitution G T missense_variant P910Q 2729C>A COAD-US 10 97099026 97099026 single base substitution G T missense_variant P932Q 2795C>A COAD-US 10 97111102 97111102 single base substitution C T exon_variant COAD-US 10 97111102 97111102 single base substitution C T intron_variant COAD-US 10 97111102 97111102 single base substitution C T missense_variant R1009H 3026G>A COAD-US 10 97111102 97111102 single base substitution C T missense_variant R496H 1487G>A COAD-US 10 97111102 97111102 single base substitution C T missense_variant R526H 1577G>A COAD-US 10 97111102 97111102 single base substitution C T missense_variant R561H 1682G>A COAD-US 10 97111102 97111102 single base substitution C T missense_variant R600H 1799G>A COAD-US 10 97111102 97111102 single base substitution C T missense_variant R703H 2108G>A COAD-US 10 97111102 97111102 single base substitution C T missense_variant R719H 2156G>A COAD-US 10 97111102 97111102 single base substitution C T missense_variant R749H 2246G>A COAD-US 10 97111102 97111102 single base substitution C T missense_variant R771H 2312G>A COAD-US 10 97117517 97117517 single base substitution C T exon_variant COAD-US 10 97117517 97117517 single base substitution C T missense_variant G373R 1117G>A COAD-US 10 97117517 97117517 single base substitution C T missense_variant G414R 1240G>A COAD-US 10 97117517 97117517 single base substitution C T missense_variant G434R 1300G>A COAD-US 10 97117517 97117517 single base substitution C T missense_variant G444R 1330G>A COAD-US 10 97117517 97117517 single base substitution C T missense_variant G479R 1435G>A COAD-US 10 97117517 97117517 single base substitution C T missense_variant G505R 1513G>A COAD-US 10 97117517 97117517 single base substitution C T missense_variant G518R 1552G>A COAD-US 10 97117517 97117517 single base substitution C T missense_variant G621R 1861G>A COAD-US 10 97117517 97117517 single base substitution C T missense_variant G637R 1909G>A COAD-US 10 97117517 97117517 single base substitution C T missense_variant G667R 1999G>A COAD-US 10 97117517 97117517 single base substitution C T missense_variant G689R 2065G>A COAD-US 10 97117517 97117517 single base substitution C T upstream_gene_variant COAD-US 10 97135757 97135757 single base substitution G T intron_variant COAD-US 10 97135757 97135757 single base substitution G T missense_variant F359L 1077C>A COAD-US 10 97135757 97135757 single base substitution G T missense_variant F369L 1107C>A COAD-US 10 97135757 97135757 single base substitution G T missense_variant F438L 1314C>A COAD-US 10 97135757 97135757 single base substitution G T missense_variant F455L 1365C>A COAD-US 10 97135757 97135757 single base substitution G T missense_variant F524L 1572C>A COAD-US 10 97135757 97135757 single base substitution G T missense_variant F540L 1620C>A COAD-US 10 97135757 97135757 single base substitution G T missense_variant F570L 1710C>A COAD-US 10 97135757 97135757 single base substitution G T missense_variant F592L 1776C>A COAD-US 10 97174500 97174500 single base substitution G T downstream_gene_variant COAD-US 10 97174500 97174500 single base substitution G T exon_variant COAD-US 10 97174500 97174500 single base substitution G T intron_variant COAD-US 10 97174500 97174500 single base substitution G T synonymous_variant G155G 465C>A COAD-US 10 97174500 97174500 single base substitution G T synonymous_variant G178G 534C>A COAD-US 10 97174500 97174500 single base substitution G T synonymous_variant G187G 561C>A COAD-US 10 97174500 97174500 single base substitution G T upstream_gene_variant COCA-CN 10 97067307 97067307 single base substitution A G downstream_gene_variant COCA-CN 10 97071872 97071872 single base substitution G T 3_prime_UTR_variant COCA-CN 10 97071872 97071872 single base substitution G T downstream_gene_variant COCA-CN 10 97072040 97072040 single base substitution A G 3_prime_UTR_variant COCA-CN 10 97072040 97072040 single base substitution A G downstream_gene_variant COCA-CN 10 97077816 97077816 single base substitution T A intron_variant COCA-CN 10 97077818 97077818 single base substitution A T intron_variant COCA-CN 10 97078066 97078066 single base substitution G T intron_variant COCA-CN 10 97082058 97082058 single base substitution A C intron_variant COCA-CN 10 97085317 97085317 single base substitution T C intron_variant COCA-CN 10 97092500 97092500 single base substitution A G intron_variant COCA-CN 10 97097010 97097010 single base substitution A G downstream_gene_variant COCA-CN 10 97097010 97097010 single base substitution A G intron_variant COCA-CN 10 97097010 97097010 single base substitution A G synonymous_variant S923S 2769T>C COCA-CN 10 97097010 97097010 single base substitution A G synonymous_variant S969S 2907T>C COCA-CN 10 97110879 97110879 single base substitution C T intron_variant COCA-CN 10 97111068 97111068 single base substitution G A exon_variant COCA-CN 10 97111068 97111068 single base substitution G A intron_variant COCA-CN 10 97111068 97111068 single base substitution G A synonymous_variant R1020R 3060C>T COCA-CN 10 97111068 97111068 single base substitution G A synonymous_variant R507R 1521C>T COCA-CN 10 97111068 97111068 single base substitution G A synonymous_variant R537R 1611C>T COCA-CN 10 97111068 97111068 single base substitution G A synonymous_variant R572R 1716C>T COCA-CN 10 97111068 97111068 single base substitution G A synonymous_variant R611R 1833C>T COCA-CN 10 97111068 97111068 single base substitution G A synonymous_variant R714R 2142C>T COCA-CN 10 97111068 97111068 single base substitution G A synonymous_variant R730R 2190C>T COCA-CN 10 97111068 97111068 single base substitution G A synonymous_variant R760R 2280C>T COCA-CN 10 97111068 97111068 single base substitution G A synonymous_variant R782R 2346C>T COCA-CN 10 97115236 97115236 single base substitution T C intron_variant COCA-CN 10 97115247 97115247 single base substitution A G intron_variant COCA-CN 10 97115482 97115482 single base substitution T A intron_variant COCA-CN 10 97115482 97115482 single base substitution T A missense_variant Y107F 320A>T COCA-CN 10 97115482 97115482 single base substitution T A missense_variant Y937F 2810A>T COCA-CN 10 97116604 97116604 single base substitution G T intron_variant COCA-CN 10 97116604 97116604 single base substitution G T missense_variant S563Y 1688C>A COCA-CN 10 97116604 97116604 single base substitution G T upstream_gene_variant COCA-CN 10 97127577 97127577 single base substitution C T intron_variant COCA-CN 10 97135637 97135637 single base substitution G T intron_variant COCA-CN 10 97139146 97139146 single base substitution A C downstream_gene_variant COCA-CN 10 97139146 97139146 single base substitution A C intron_variant COCA-CN 10 97139151 97139151 single base substitution A C downstream_gene_variant COCA-CN 10 97139151 97139151 single base substitution A C intron_variant COCA-CN 10 97141532 97141532 single base substitution C A downstream_gene_variant COCA-CN 10 97141532 97141532 single base substitution C A exon_variant COCA-CN 10 97141532 97141532 single base substitution C A missense_variant K310N 930G>T COCA-CN 10 97141532 97141532 single base substitution C A missense_variant K311N 933G>T COCA-CN 10 97141532 97141532 single base substitution C A missense_variant K320N 960G>T COCA-CN 10 97141532 97141532 single base substitution C A missense_variant K352N 1056G>T COCA-CN 10 97141532 97141532 single base substitution C A missense_variant K389N 1167G>T COCA-CN 10 97141532 97141532 single base substitution C A missense_variant K406N 1218G>T COCA-CN 10 97141532 97141532 single base substitution C A missense_variant K443N 1329G>T COCA-CN 10 97141532 97141532 single base substitution C A missense_variant K475N 1425G>T COCA-CN 10 97141532 97141532 single base substitution C A missense_variant K491N 1473G>T COCA-CN 10 97141532 97141532 single base substitution C A missense_variant K521N 1563G>T COCA-CN 10 97141532 97141532 single base substitution C A missense_variant K543N 1629G>T COCA-CN 10 97143886 97143886 single base substitution T C intron_variant COCA-CN 10 97144092 97144092 single base substitution G T intron_variant COCA-CN 10 97144092 97144092 single base substitution G T upstream_gene_variant COCA-CN 10 97148741 97148741 single base substitution T A intron_variant COCA-CN 10 97148741 97148741 single base substitution T A upstream_gene_variant COCA-CN 10 97154682 97154682 single base substitution A T downstream_gene_variant COCA-CN 10 97154682 97154682 single base substitution A T intron_variant COCA-CN 10 97154893 97154893 single base substitution C T downstream_gene_variant COCA-CN 10 97154893 97154893 single base substitution C T intron_variant COCA-CN 10 97156336 97156336 single base substitution G A downstream_gene_variant COCA-CN 10 97156336 97156336 single base substitution G A intron_variant COCA-CN 10 97162213 97162213 single base substitution C T intron_variant COCA-CN 10 97165974 97165974 single base substitution T C intron_variant COCA-CN 10 97170447 97170447 single base substitution C T downstream_gene_variant COCA-CN 10 97170447 97170447 single base substitution C T exon_variant COCA-CN 10 97170447 97170447 single base substitution C T missense_variant A105T 313G>A COCA-CN 10 97170447 97170447 single base substitution C T missense_variant A136T 406G>A COCA-CN 10 97170447 97170447 single base substitution C T missense_variant A145T 433G>A COCA-CN 10 97170447 97170447 single base substitution C T missense_variant A168T 502G>A COCA-CN 10 97170447 97170447 single base substitution C T missense_variant A177T 529G>A COCA-CN 10 97170447 97170447 single base substitution C T missense_variant A231T 691G>A COCA-CN 10 97170447 97170447 single base substitution C T missense_variant A268T 802G>A COCA-CN 10 97170447 97170447 single base substitution C T missense_variant A291T 871G>A COCA-CN 10 97170447 97170447 single base substitution C T missense_variant A300T 898G>A COCA-CN 10 97170563 97170563 single base substitution A G downstream_gene_variant COCA-CN 10 97170563 97170563 single base substitution A G intron_variant COCA-CN 10 97181940 97181940 single base substitution G A intron_variant COCA-CN 10 97181940 97181940 single base substitution G A splice_region_variant COCA-CN 10 97193330 97193330 single base substitution T G intron_variant COCA-CN 10 97194299 97194299 single base substitution G A intron_variant COCA-CN 10 97209363 97209363 single base substitution T C intron_variant COCA-CN 10 97212537 97212537 single base substitution C T intron_variant COCA-CN 10 97251559 97251559 single base substitution T A intron_variant COCA-CN 10 97256441 97256441 single base substitution C G intron_variant COCA-CN 10 97256441 97256441 single base substitution C G upstream_gene_variant COCA-CN 10 97258837 97258837 single base substitution T G intron_variant COCA-CN 10 97258989 97258989 single base substitution C T intron_variant COCA-CN 10 97296436 97296436 single base substitution T C intron_variant COCA-CN 10 97299769 97299769 single base substitution T A intron_variant COCA-CN 10 97323370 97323370 single base substitution A G upstream_gene_variant EOPC-DE 10 97107653 97107653 single base substitution C T intron_variant EOPC-DE 10 97209896 97209896 single base substitution A G intron_variant EOPC-DE 10 97225831 97225831 single base substitution A G intron_variant ESAD-UK 10 97068752 97068752 single base substitution C T downstream_gene_variant ESAD-UK 10 97068766 97068766 single base substitution A T downstream_gene_variant ESAD-UK 10 97071399 97071399 single base substitution C T downstream_gene_variant ESAD-UK 10 97072664 97072664 single base substitution T G 3_prime_UTR_variant ESAD-UK 10 97072664 97072664 single base substitution T G downstream_gene_variant ESAD-UK 10 97076375 97076375 single base substitution G A intron_variant ESAD-UK 10 97077767 97077767 single base substitution G A intron_variant ESAD-UK 10 97078942 97078942 single base substitution T C intron_variant ESAD-UK 10 97081477 97081477 single base substitution T A intron_variant ESAD-UK 10 97082148 97082148 single base substitution A C intron_variant ESAD-UK 10 97082269 97082269 single base substitution T G intron_variant ESAD-UK 10 97082386 97082386 single base substitution C A intron_variant ESAD-UK 10 97085051 97085051 single base substitution C A intron_variant ESAD-UK 10 97086119 97086119 single base substitution C T intron_variant ESAD-UK 10 97086453 97086453 deletion of <=200bp T - intron_variant ESAD-UK 10 97087292 97087292 single base substitution C T intron_variant ESAD-UK 10 97087852 97087852 single base substitution C T intron_variant ESAD-UK 10 97088590 97088590 single base substitution C T intron_variant ESAD-UK 10 97093357 97093357 single base substitution G A intron_variant ESAD-UK 10 97096249 97096249 single base substitution A G intron_variant ESAD-UK 10 97096391 97096391 single base substitution G A downstream_gene_variant ESAD-UK 10 97096391 97096391 single base substitution G A intron_variant ESAD-UK 10 97096391 97096391 single base substitution G A missense_variant R1035W 3103C>T ESAD-UK 10 97096391 97096391 single base substitution G A missense_variant R1130W 3388C>T ESAD-UK 10 97096391 97096391 single base substitution G A missense_variant R1176W 3526C>T ESAD-UK 10 97097784 97097784 single base substitution A G downstream_gene_variant ESAD-UK 10 97097784 97097784 single base substitution A G intron_variant ESAD-UK 10 97100128 97100128 deletion of <=200bp T - downstream_gene_variant ESAD-UK 10 97100128 97100128 deletion of <=200bp T - intron_variant ESAD-UK 10 97102528 97102528 single base substitution T C intron_variant ESAD-UK 10 97102858 97102858 single base substitution G T intron_variant ESAD-UK 10 97107765 97107765 single base substitution G A intron_variant ESAD-UK 10 97109460 97109460 single base substitution C T intron_variant ESAD-UK 10 97111058 97111058 single base substitution C T exon_variant ESAD-UK 10 97111058 97111058 single base substitution C T intron_variant ESAD-UK 10 97111058 97111058 single base substitution C T missense_variant V1024I 3070G>A ESAD-UK 10 97111058 97111058 single base substitution C T missense_variant V511I 1531G>A ESAD-UK 10 97111058 97111058 single base substitution C T missense_variant V541I 1621G>A ESAD-UK 10 97111058 97111058 single base substitution C T missense_variant V576I 1726G>A ESAD-UK 10 97111058 97111058 single base substitution C T missense_variant V615I 1843G>A ESAD-UK 10 97111058 97111058 single base substitution C T missense_variant V718I 2152G>A ESAD-UK 10 97111058 97111058 single base substitution C T missense_variant V734I 2200G>A ESAD-UK 10 97111058 97111058 single base substitution C T missense_variant V764I 2290G>A ESAD-UK 10 97111058 97111058 single base substitution C T missense_variant V786I 2356G>A ESAD-UK 10 97111112 97111112 single base substitution G A exon_variant ESAD-UK 10 97111112 97111112 single base substitution G A intron_variant ESAD-UK 10 97111112 97111112 single base substitution G A stop_gained R1006* 3016C>T ESAD-UK 10 97111112 97111112 single base substitution G A stop_gained R493* 1477C>T ESAD-UK 10 97111112 97111112 single base substitution G A stop_gained R523* 1567C>T ESAD-UK 10 97111112 97111112 single base substitution G A stop_gained R558* 1672C>T ESAD-UK 10 97111112 97111112 single base substitution G A stop_gained R597* 1789C>T ESAD-UK 10 97111112 97111112 single base substitution G A stop_gained R700* 2098C>T ESAD-UK 10 97111112 97111112 single base substitution G A stop_gained R716* 2146C>T ESAD-UK 10 97111112 97111112 single base substitution G A stop_gained R746* 2236C>T ESAD-UK 10 97111112 97111112 single base substitution G A stop_gained R768* 2302C>T ESAD-UK 10 97112430 97112430 single base substitution C T intron_variant ESAD-UK 10 97115048 97115048 single base substitution C A intron_variant ESAD-UK 10 97118856 97118856 single base substitution C T intron_variant ESAD-UK 10 97118856 97118856 single base substitution C T upstream_gene_variant ESAD-UK 10 97119712 97119712 single base substitution T C intron_variant ESAD-UK 10 97119712 97119712 single base substitution T C upstream_gene_variant ESAD-UK 10 97121753 97121753 single base substitution A C intron_variant ESAD-UK 10 97121987 97121987 single base substitution G A intron_variant ESAD-UK 10 97122686 97122686 insertion of <=200bp - AAG intron_variant ESAD-UK 10 97123244 97123244 single base substitution T G intron_variant ESAD-UK 10 97124567 97124567 single base substitution T C intron_variant ESAD-UK 10 97125087 97125087 single base substitution C T intron_variant ESAD-UK 10 97125094 97125094 single base substitution C T intron_variant ESAD-UK 10 97128020 97128020 single base substitution C T intron_variant ESAD-UK 10 97128758 97128758 single base substitution C T intron_variant ESAD-UK 10 97133850 97133850 single base substitution C T intron_variant ESAD-UK 10 97134111 97134111 single base substitution G A intron_variant ESAD-UK 10 97135610 97135610 single base substitution A G intron_variant ESAD-UK 10 97135894 97135894 single base substitution G A intron_variant ESAD-UK 10 97135946 97135947 deletion of <=200bp TC - intron_variant ESAD-UK 10 97136750 97136750 single base substitution G A downstream_gene_variant ESAD-UK 10 97136750 97136750 single base substitution G A intron_variant ESAD-UK 10 97138355 97138355 single base substitution C A downstream_gene_variant ESAD-UK 10 97138355 97138355 single base substitution C A intron_variant ESAD-UK 10 97139282 97139282 single base substitution T A downstream_gene_variant ESAD-UK 10 97139282 97139282 single base substitution T A intron_variant ESAD-UK 10 97139565 97139565 single base substitution C T downstream_gene_variant ESAD-UK 10 97139565 97139565 single base substitution C T intron_variant ESAD-UK 10 97143536 97143536 single base substitution C G downstream_gene_variant ESAD-UK 10 97143536 97143536 single base substitution C G intron_variant ESAD-UK 10 97143948 97143948 single base substitution C G intron_variant ESAD-UK 10 97144324 97144324 single base substitution G A intron_variant ESAD-UK 10 97144324 97144324 single base substitution G A upstream_gene_variant ESAD-UK 10 97144479 97144479 single base substitution G A intron_variant ESAD-UK 10 97144479 97144479 single base substitution G A upstream_gene_variant ESAD-UK 10 97147031 97147031 single base substitution C T intron_variant ESAD-UK 10 97147031 97147031 single base substitution C T upstream_gene_variant ESAD-UK 10 97148668 97148668 deletion of <=200bp T - intron_variant ESAD-UK 10 97148668 97148668 deletion of <=200bp T - upstream_gene_variant ESAD-UK 10 97151379 97151379 single base substitution C A intron_variant ESAD-UK 10 97155741 97155741 single base substitution C A downstream_gene_variant ESAD-UK 10 97155741 97155741 single base substitution C A intron_variant ESAD-UK 10 97155888 97155888 single base substitution C T downstream_gene_variant ESAD-UK 10 97155888 97155888 single base substitution C T intron_variant ESAD-UK 10 97156435 97156435 single base substitution T G downstream_gene_variant ESAD-UK 10 97156435 97156435 single base substitution T G intron_variant ESAD-UK 10 97161289 97161289 single base substitution G A intron_variant ESAD-UK 10 97161411 97161411 single base substitution G A intron_variant ESAD-UK 10 97161519 97161519 single base substitution A T intron_variant ESAD-UK 10 97161546 97161546 single base substitution C T intron_variant ESAD-UK 10 97163422 97163422 single base substitution G C intron_variant ESAD-UK 10 97163836 97163836 insertion of <=200bp - T intron_variant ESAD-UK 10 97163909 97163909 single base substitution C T intron_variant ESAD-UK 10 97164362 97164362 single base substitution C A intron_variant ESAD-UK 10 97165044 97165044 single base substitution A T intron_variant ESAD-UK 10 97165258 97165258 single base substitution C T intron_variant ESAD-UK 10 97166133 97166133 single base substitution A G intron_variant ESAD-UK 10 97166915 97166915 single base substitution T G intron_variant ESAD-UK 10 97169819 97169819 single base substitution T C downstream_gene_variant ESAD-UK 10 97169819 97169819 single base substitution T C intron_variant ESAD-UK 10 97172954 97172954 single base substitution C T downstream_gene_variant ESAD-UK 10 97172954 97172954 single base substitution C T intron_variant ESAD-UK 10 97173512 97173512 single base substitution G A downstream_gene_variant ESAD-UK 10 97173512 97173512 single base substitution G A exon_variant ESAD-UK 10 97173512 97173512 single base substitution G A intron_variant ESAD-UK 10 97175024 97175024 single base substitution G C intron_variant ESAD-UK 10 97175024 97175024 single base substitution G C upstream_gene_variant ESAD-UK 10 97177248 97177248 single base substitution A G intron_variant ESAD-UK 10 97177248 97177248 single base substitution A G upstream_gene_variant ESAD-UK 10 97177818 97177818 single base substitution T C intron_variant ESAD-UK 10 97177818 97177818 single base substitution T C upstream_gene_variant ESAD-UK 10 97178023 97178023 single base substitution C T intron_variant ESAD-UK 10 97178023 97178023 single base substitution C T upstream_gene_variant ESAD-UK 10 97178070 97178070 single base substitution A C intron_variant ESAD-UK 10 97178070 97178070 single base substitution A C upstream_gene_variant ESAD-UK 10 97178411 97178411 insertion of <=200bp - A intron_variant ESAD-UK 10 97178411 97178411 insertion of <=200bp - A upstream_gene_variant ESAD-UK 10 97181641 97181641 single base substitution G A intron_variant ESAD-UK 10 97194184 97194184 single base substitution G A intron_variant ESAD-UK 10 97194378 97194378 single base substitution C A intron_variant ESAD-UK 10 97194378 97194378 single base substitution C A splice_donor_variant ESAD-UK 10 97194850 97194850 single base substitution C T intron_variant ESAD-UK 10 97194984 97194984 single base substitution C T intron_variant ESAD-UK 10 97195458 97195458 single base substitution G A intron_variant ESAD-UK 10 97196676 97196676 single base substitution G A intron_variant ESAD-UK 10 97199820 97199820 single base substitution G T intron_variant ESAD-UK 10 97201047 97201047 single base substitution C T intron_variant ESAD-UK 10 97201047 97201047 single base substitution C T upstream_gene_variant ESAD-UK 10 97202103 97202103 single base substitution G A intron_variant ESAD-UK 10 97202103 97202103 single base substitution G A upstream_gene_variant ESAD-UK 10 97202289 97202289 single base substitution T A intron_variant ESAD-UK 10 97202289 97202289 single base substitution T A upstream_gene_variant ESAD-UK 10 97202935 97202935 single base substitution C T intron_variant ESAD-UK 10 97202935 97202935 single base substitution C T upstream_gene_variant ESAD-UK 10 97204008 97204008 single base substitution C T intron_variant ESAD-UK 10 97204008 97204008 single base substitution C T upstream_gene_variant ESAD-UK 10 97205161 97205161 single base substitution T A intron_variant ESAD-UK 10 97205161 97205161 single base substitution T A upstream_gene_variant ESAD-UK 10 97207322 97207322 single base substitution C G intron_variant ESAD-UK 10 97207434 97207434 single base substitution C A intron_variant ESAD-UK 10 97208500 97208500 single base substitution A G intron_variant ESAD-UK 10 97211374 97211374 single base substitution G A intron_variant ESAD-UK 10 97212728 97212728 single base substitution C A intron_variant ESAD-UK 10 97212817 97212817 single base substitution C T intron_variant ESAD-UK 10 97216299 97216299 single base substitution A T intron_variant ESAD-UK 10 97216944 97216944 single base substitution A G intron_variant ESAD-UK 10 97221357 97221357 single base substitution C A intron_variant ESAD-UK 10 97221831 97221831 single base substitution G A intron_variant ESAD-UK 10 97226234 97226234 single base substitution T A intron_variant ESAD-UK 10 97226882 97226882 single base substitution C T intron_variant ESAD-UK 10 97227487 97227487 single base substitution C T intron_variant ESAD-UK 10 97232922 97232922 single base substitution G T intron_variant ESAD-UK 10 97233158 97233158 single base substitution G A intron_variant ESAD-UK 10 97234967 97234967 single base substitution T G intron_variant ESAD-UK 10 97240964 97240964 single base substitution C T intron_variant ESAD-UK 10 97241660 97241660 single base substitution C G intron_variant ESAD-UK 10 97243967 97243967 single base substitution G A intron_variant ESAD-UK 10 97243967 97243967 single base substitution G A upstream_gene_variant ESAD-UK 10 97244626 97244626 single base substitution C T intron_variant ESAD-UK 10 97244626 97244626 single base substitution C T upstream_gene_variant ESAD-UK 10 97247314 97247314 single base substitution G A downstream_gene_variant ESAD-UK 10 97247314 97247314 single base substitution G A intron_variant ESAD-UK 10 97247314 97247314 single base substitution G A upstream_gene_variant ESAD-UK 10 97247505 97247505 single base substitution A G downstream_gene_variant ESAD-UK 10 97247505 97247505 single base substitution A G intron_variant ESAD-UK 10 97250512 97250512 single base substitution C T exon_variant ESAD-UK 10 97250512 97250512 single base substitution C T intron_variant ESAD-UK 10 97251499 97251499 single base substitution T G intron_variant ESAD-UK 10 97253523 97253523 single base substitution G A intron_variant ESAD-UK 10 97253523 97253523 single base substitution G A upstream_gene_variant ESAD-UK 10 97254613 97254613 insertion of <=200bp - TTTATTTATTTATTTA intron_variant ESAD-UK 10 97254613 97254613 insertion of <=200bp - TTTATTTATTTATTTA upstream_gene_variant ESAD-UK 10 97263360 97263360 single base substitution G A intron_variant ESAD-UK 10 97263572 97263572 single base substitution G A intron_variant ESAD-UK 10 97265497 97265497 single base substitution T C intron_variant ESAD-UK 10 97268554 97268554 single base substitution G A intron_variant ESAD-UK 10 97268638 97268638 single base substitution G C intron_variant ESAD-UK 10 97268875 97268875 single base substitution C A intron_variant ESAD-UK 10 97268900 97268900 single base substitution T C intron_variant ESAD-UK 10 97271264 97271264 single base substitution G A intron_variant ESAD-UK 10 97271901 97271901 single base substitution G A intron_variant ESAD-UK 10 97272557 97272557 single base substitution A G intron_variant ESAD-UK 10 97274481 97274481 single base substitution G T intron_variant ESAD-UK 10 97274717 97274717 single base substitution T G intron_variant ESAD-UK 10 97275355 97275355 single base substitution C T intron_variant ESAD-UK 10 97277481 97277481 single base substitution G A intron_variant ESAD-UK 10 97281292 97281292 single base substitution C T intron_variant ESAD-UK 10 97283907 97283907 single base substitution C A intron_variant ESAD-UK 10 97286568 97286568 single base substitution G T intron_variant ESAD-UK 10 97287618 97287618 single base substitution A G intron_variant ESAD-UK 10 97287909 97287909 single base substitution G A intron_variant ESAD-UK 10 97290504 97290504 single base substitution G A intron_variant ESAD-UK 10 97291795 97291795 single base substitution G T intron_variant ESAD-UK 10 97295335 97295335 single base substitution G A intron_variant ESAD-UK 10 97295344 97295344 single base substitution G C intron_variant ESAD-UK 10 97297636 97297636 single base substitution A C intron_variant ESAD-UK 10 97298016 97298016 single base substitution C T intron_variant ESAD-UK 10 97298600 97298600 single base substitution T G intron_variant ESAD-UK 10 97300580 97300580 deletion of <=200bp T - intron_variant ESAD-UK 10 97302512 97302512 single base substitution C A intron_variant ESAD-UK 10 97303006 97303006 single base substitution C T intron_variant ESAD-UK 10 97306689 97306689 single base substitution C T intron_variant ESAD-UK 10 97307750 97307750 single base substitution C T intron_variant ESAD-UK 10 97310082 97310082 single base substitution C G intron_variant ESAD-UK 10 97310391 97310391 single base substitution G T intron_variant ESAD-UK 10 97313355 97313355 single base substitution A C intron_variant ESAD-UK 10 97320264 97320264 single base substitution C G intron_variant ESAD-UK 10 97321379 97321379 single base substitution G C upstream_gene_variant ESCA-CN 10 97137105 97137105 single base substitution A G downstream_gene_variant ESCA-CN 10 97137105 97137105 single base substitution A G intron_variant ESCA-CN 10 97156908 97156908 single base substitution T C downstream_gene_variant ESCA-CN 10 97156908 97156908 single base substitution T C intron_variant ESCA-CN 10 97170513 97170513 single base substitution C T downstream_gene_variant ESCA-CN 10 97170513 97170513 single base substitution C T exon_variant ESCA-CN 10 97170513 97170513 single base substitution C T missense_variant E114K 340G>A ESCA-CN 10 97170513 97170513 single base substitution C T missense_variant E123K 367G>A ESCA-CN 10 97170513 97170513 single base substitution C T missense_variant E146K 436G>A ESCA-CN 10 97170513 97170513 single base substitution C T missense_variant E155K 463G>A ESCA-CN 10 97170513 97170513 single base substitution C T missense_variant E209K 625G>A ESCA-CN 10 97170513 97170513 single base substitution C T missense_variant E246K 736G>A ESCA-CN 10 97170513 97170513 single base substitution C T missense_variant E269K 805G>A ESCA-CN 10 97170513 97170513 single base substitution C T missense_variant E278K 832G>A ESCA-CN 10 97170513 97170513 single base substitution C T missense_variant E83K 247G>A ESCA-CN 10 97174251 97174251 single base substitution G A downstream_gene_variant ESCA-CN 10 97174251 97174251 single base substitution G A intron_variant ESCA-CN 10 97174251 97174251 single base substitution G A splice_region_variant ESCA-CN 10 97174251 97174251 single base substitution G A upstream_gene_variant KIRC-US 10 97135759 97135759 single base substitution A G intron_variant KIRC-US 10 97135759 97135759 single base substitution A G missense_variant F359L 1075T>C KIRC-US 10 97135759 97135759 single base substitution A G missense_variant F369L 1105T>C KIRC-US 10 97135759 97135759 single base substitution A G missense_variant F438L 1312T>C KIRC-US 10 97135759 97135759 single base substitution A G missense_variant F455L 1363T>C KIRC-US 10 97135759 97135759 single base substitution A G missense_variant F524L 1570T>C KIRC-US 10 97135759 97135759 single base substitution A G missense_variant F540L 1618T>C KIRC-US 10 97135759 97135759 single base substitution A G missense_variant F570L 1708T>C KIRC-US 10 97135759 97135759 single base substitution A G missense_variant F592L 1774T>C KIRP-US 10 97096528 97096528 single base substitution T G downstream_gene_variant KIRP-US 10 97096528 97096528 single base substitution T G intron_variant KIRP-US 10 97096528 97096528 single base substitution T G missense_variant K1084T 3251A>C KIRP-US 10 97096528 97096528 single base substitution T G missense_variant K1130T 3389A>C KIRP-US 10 97096528 97096528 single base substitution T G missense_variant K989T 2966A>C KIRP-US 10 97170380 97170388 deletion of <=200bp CCTCTCTTA - downstream_gene_variant KIRP-US 10 97170380 97170388 deletion of <=200bp CCTCTCTTA - splice_donor_variant LAML-KR 10 97115172 97115172 single base substitution G A intron_variant LAML-KR 10 97126983 97126983 single base substitution G T intron_variant LAML-KR 10 97137105 97137105 single base substitution A G downstream_gene_variant LAML-KR 10 97137105 97137105 single base substitution A G intron_variant LAML-KR 10 97141523 97141523 single base substitution G A downstream_gene_variant LAML-KR 10 97141523 97141523 single base substitution G A exon_variant LAML-KR 10 97141523 97141523 single base substitution G A synonymous_variant D313D 939C>T LAML-KR 10 97141523 97141523 single base substitution G A synonymous_variant D314D 942C>T LAML-KR 10 97141523 97141523 single base substitution G A synonymous_variant D323D 969C>T LAML-KR 10 97141523 97141523 single base substitution G A synonymous_variant D355D 1065C>T LAML-KR 10 97141523 97141523 single base substitution G A synonymous_variant D392D 1176C>T LAML-KR 10 97141523 97141523 single base substitution G A synonymous_variant D409D 1227C>T LAML-KR 10 97141523 97141523 single base substitution G A synonymous_variant D446D 1338C>T LAML-KR 10 97141523 97141523 single base substitution G A synonymous_variant D478D 1434C>T LAML-KR 10 97141523 97141523 single base substitution G A synonymous_variant D494D 1482C>T LAML-KR 10 97141523 97141523 single base substitution G A synonymous_variant D524D 1572C>T LAML-KR 10 97141523 97141523 single base substitution G A synonymous_variant D546D 1638C>T LAML-KR 10 97154682 97154682 single base substitution A T downstream_gene_variant LAML-KR 10 97154682 97154682 single base substitution A T intron_variant LAML-KR 10 97154698 97154698 single base substitution G A downstream_gene_variant LAML-KR 10 97154698 97154698 single base substitution G A intron_variant LAML-KR 10 97177938 97177938 single base substitution A T intron_variant LAML-KR 10 97177938 97177938 single base substitution A T upstream_gene_variant LAML-KR 10 97182008 97182008 single base substitution A T intron_variant LAML-KR 10 97225864 97225864 single base substitution T C intron_variant LAML-KR 10 97225869 97225869 single base substitution C T intron_variant LAML-KR 10 97233384 97233384 single base substitution C A intron_variant LAML-KR 10 97250775 97250775 single base substitution A G exon_variant LAML-KR 10 97250775 97250775 single base substitution A G intron_variant LAML-KR 10 97258837 97258837 single base substitution T G intron_variant LICA-CN 10 97078169 97078169 single base substitution T A missense_variant Y1099F 3296A>T LICA-CN 10 97078169 97078169 single base substitution T A missense_variant Y1214F 3641A>T LICA-CN 10 97078169 97078169 single base substitution T A missense_variant Y1240F 3719A>T LICA-CN 10 97078169 97078169 single base substitution T A missense_variant Y1242F 3725A>T LICA-CN 10 97078169 97078169 single base substitution T A missense_variant Y632F 1895A>T LICA-CN 10 97078169 97078169 single base substitution T A missense_variant Y729F 2186A>T LICA-CN 10 97078169 97078169 single base substitution T A missense_variant Y759F 2276A>T LICA-CN 10 97078169 97078169 single base substitution T A missense_variant Y764F 2291A>T LICA-CN 10 97078169 97078169 single base substitution T A missense_variant Y794F 2381A>T LICA-CN 10 97078169 97078169 single base substitution T A missense_variant Y853F 2558A>T LICA-CN 10 97078169 97078169 single base substitution T A missense_variant Y952F 2855A>T LICA-FR 10 97071166 97071166 single base substitution A G downstream_gene_variant LICA-FR 10 97080138 97080138 deletion of <=200bp T - intron_variant LICA-FR 10 97083615 97083615 single base substitution A T intron_variant LICA-FR 10 97085312 97085312 deletion of <=200bp T - intron_variant LICA-FR 10 97085316 97085316 insertion of <=200bp - TC intron_variant LICA-FR 10 97096785 97096785 single base substitution G A downstream_gene_variant LICA-FR 10 97096785 97096785 single base substitution G A intron_variant LICA-FR 10 97096785 97096785 single base substitution G A synonymous_variant P1044P 3132C>T LICA-FR 10 97096785 97096785 single base substitution G A synonymous_variant P998P 2994C>T LICA-FR 10 97107558 97107558 single base substitution A C intron_variant LICA-FR 10 97121400 97121400 single base substitution G A intron_variant LICA-FR 10 97128679 97128679 single base substitution T C intron_variant LICA-FR 10 97140303 97140303 single base substitution T G downstream_gene_variant LICA-FR 10 97140303 97140303 single base substitution T G intron_variant LICA-FR 10 97164257 97164257 deletion of <=200bp T - intron_variant LICA-FR 10 97187219 97187219 single base substitution C T intron_variant LICA-FR 10 97201151 97201151 single base substitution A T intron_variant LICA-FR 10 97201151 97201151 single base substitution A T upstream_gene_variant LICA-FR 10 97218388 97218388 deletion of <=200bp A - intron_variant LICA-FR 10 97220469 97220469 deletion of <=200bp A - intron_variant LICA-FR 10 97227619 97227619 single base substitution A G intron_variant LICA-FR 10 97232788 97232789 deletion of <=200bp AA - intron_variant LICA-FR 10 97254621 97254621 insertion of <=200bp - TTTATTTATTTGTTTG intron_variant LICA-FR 10 97254621 97254621 insertion of <=200bp - TTTATTTATTTGTTTG upstream_gene_variant LICA-FR 10 97254644 97254644 single base substitution G A intron_variant LICA-FR 10 97254644 97254644 single base substitution G A upstream_gene_variant LICA-FR 10 97278770 97278770 single base substitution T C intron_variant LICA-FR 10 97308206 97308211 deletion of <=200bp TTTTTT - intron_variant LICA-FR 10 97312159 97312159 deletion of <=200bp A - intron_variant LICA-FR 10 97316156 97316156 single base substitution T A intron_variant LICA-FR 10 97316804 97316804 single base substitution G A intron_variant LICA-FR 10 97322526 97322526 insertion of <=200bp - AAAAA upstream_gene_variant LIHC-US 10 97101323 97101323 single base substitution C T downstream_gene_variant LIHC-US 10 97101323 97101323 single base substitution C T missense_variant E1108K 3322G>A LIHC-US 10 97101323 97101323 single base substitution C T missense_variant E498K 1492G>A LIHC-US 10 97101323 97101323 single base substitution C T missense_variant E595K 1783G>A LIHC-US 10 97101323 97101323 single base substitution C T missense_variant E625K 1873G>A LIHC-US 10 97101323 97101323 single base substitution C T missense_variant E630K 1888G>A LIHC-US 10 97101323 97101323 single base substitution C T missense_variant E660K 1978G>A LIHC-US 10 97101323 97101323 single base substitution C T missense_variant E699K 2095G>A LIHC-US 10 97101323 97101323 single base substitution C T missense_variant E802K 2404G>A LIHC-US 10 97101323 97101323 single base substitution C T missense_variant E818K 2452G>A LIHC-US 10 97101323 97101323 single base substitution C T missense_variant E848K 2542G>A LIHC-US 10 97101323 97101323 single base substitution C T missense_variant E870K 2608G>A LIHC-US 10 97197265 97197265 single base substitution T A exon_variant LIHC-US 10 97197265 97197265 single base substitution T A missense_variant S20C 58A>T LINC-JP 10 97092060 97092060 single base substitution T C intron_variant LINC-JP 10 97096770 97096770 single base substitution T C downstream_gene_variant LINC-JP 10 97096770 97096770 single base substitution T C intron_variant LINC-JP 10 97096770 97096770 single base substitution T C synonymous_variant V1003V 3009A>G LINC-JP 10 97096770 97096770 single base substitution T C synonymous_variant V1049V 3147A>G LINC-JP 10 97098920 97098920 single base substitution G A downstream_gene_variant LINC-JP 10 97098920 97098920 single base substitution G A synonymous_variant S1205S 3615C>T LINC-JP 10 97098920 97098920 single base substitution G A synonymous_variant S595S 1785C>T LINC-JP 10 97098920 97098920 single base substitution G A synonymous_variant S692S 2076C>T LINC-JP 10 97098920 97098920 single base substitution G A synonymous_variant S722S 2166C>T LINC-JP 10 97098920 97098920 single base substitution G A synonymous_variant S727S 2181C>T LINC-JP 10 97098920 97098920 single base substitution G A synonymous_variant S757S 2271C>T LINC-JP 10 97098920 97098920 single base substitution G A synonymous_variant S796S 2388C>T LINC-JP 10 97098920 97098920 single base substitution G A synonymous_variant S899S 2697C>T LINC-JP 10 97098920 97098920 single base substitution G A synonymous_variant S915S 2745C>T LINC-JP 10 97098920 97098920 single base substitution G A synonymous_variant S945S 2835C>T LINC-JP 10 97098920 97098920 single base substitution G A synonymous_variant S967S 2901C>T LINC-JP 10 97106050 97106050 deletion of <=200bp T - intron_variant LINC-JP 10 97107198 97107198 single base substitution C T intron_variant LINC-JP 10 97108916 97108916 single base substitution C A intron_variant LINC-JP 10 97115656 97115656 single base substitution G C intron_variant LINC-JP 10 97115656 97115656 single base substitution G C missense_variant S49C 146C>G LINC-JP 10 97115656 97115656 single base substitution G C missense_variant S879C 2636C>G LINC-JP 10 97115952 97115952 single base substitution C T intron_variant LINC-JP 10 97115952 97115952 single base substitution C T synonymous_variant V780V 2340G>A LINC-JP 10 97115952 97115952 single base substitution C T upstream_gene_variant LINC-JP 10 97116205 97116205 single base substitution C T intron_variant LINC-JP 10 97116205 97116205 single base substitution C T missense_variant R696H 2087G>A LINC-JP 10 97116205 97116205 single base substitution C T upstream_gene_variant LINC-JP 10 97124198 97124198 insertion of <=200bp - G intron_variant LINC-JP 10 97131107 97131107 single base substitution T C intron_variant LINC-JP 10 97131107 97131107 single base substitution T C synonymous_variant K394K 1182A>G LINC-JP 10 97131107 97131107 single base substitution T C synonymous_variant K404K 1212A>G LINC-JP 10 97131107 97131107 single base substitution T C synonymous_variant K581K 1743A>G LINC-JP 10 97131107 97131107 single base substitution T C synonymous_variant K597K 1791A>G LINC-JP 10 97131107 97131107 single base substitution T C synonymous_variant K627K 1881A>G LINC-JP 10 97131107 97131107 single base substitution T C synonymous_variant K649K 1947A>G LINC-JP 10 97131184 97131184 single base substitution T C intron_variant LINC-JP 10 97131184 97131184 single base substitution T C missense_variant T369A 1105A>G LINC-JP 10 97131184 97131184 single base substitution T C missense_variant T379A 1135A>G LINC-JP 10 97131184 97131184 single base substitution T C missense_variant T556A 1666A>G LINC-JP 10 97131184 97131184 single base substitution T C missense_variant T572A 1714A>G LINC-JP 10 97131184 97131184 single base substitution T C missense_variant T602A 1804A>G LINC-JP 10 97131184 97131184 single base substitution T C missense_variant T624A 1870A>G LINC-JP 10 97136108 97136108 single base substitution G C intron_variant LINC-JP 10 97142626 97142626 single base substitution A G downstream_gene_variant LINC-JP 10 97142626 97142626 single base substitution A G intron_variant LINC-JP 10 97148588 97148588 insertion of <=200bp - GC intron_variant LINC-JP 10 97148588 97148588 insertion of <=200bp - GC upstream_gene_variant LINC-JP 10 97159016 97159016 single base substitution C T intron_variant LINC-JP 10 97164257 97164257 deletion of <=200bp T - intron_variant LINC-JP 10 97171376 97171376 single base substitution T A downstream_gene_variant LINC-JP 10 97171376 97171376 single base substitution T A intron_variant LINC-JP 10 97181800 97181800 single base substitution G T exon_variant LINC-JP 10 97181800 97181800 single base substitution G T missense_variant A111D 332C>A LINC-JP 10 97181800 97181800 single base substitution G T missense_variant A120D 359C>A LINC-JP 10 97181800 97181800 single base substitution G T missense_variant A79D 236C>A LINC-JP 10 97181800 97181800 single base substitution G T missense_variant A88D 263C>A LINC-JP 10 97181839 97181839 single base substitution T G intron_variant LINC-JP 10 97185349 97185349 single base substitution T C intron_variant LINC-JP 10 97186659 97186659 single base substitution T A intron_variant LINC-JP 10 97186917 97186917 single base substitution T C intron_variant LINC-JP 10 97192200 97192200 single base substitution C T splice_region_variant LINC-JP 10 97194451 97194451 single base substitution G A intron_variant LINC-JP 10 97194451 97194451 single base substitution G A missense_variant R34C 100C>T LINC-JP 10 97196427 97196427 single base substitution A T intron_variant LINC-JP 10 97197238 97197238 single base substitution G C intron_variant LINC-JP 10 97212504 97212504 single base substitution A T intron_variant LINC-JP 10 97221868 97221868 single base substitution T C intron_variant LINC-JP 10 97233446 97233446 single base substitution C T intron_variant LINC-JP 10 97242452 97242452 single base substitution C A intron_variant LINC-JP 10 97242452 97242452 single base substitution C A upstream_gene_variant LINC-JP 10 97246832 97246832 single base substitution T C downstream_gene_variant LINC-JP 10 97246832 97246832 single base substitution T C intron_variant LINC-JP 10 97246832 97246832 single base substitution T C upstream_gene_variant LINC-JP 10 97264914 97264914 single base substitution C T intron_variant LINC-JP 10 97284071 97284071 single base substitution T C intron_variant LINC-JP 10 97285230 97285230 single base substitution T G intron_variant LINC-JP 10 97298832 97298832 single base substitution T C intron_variant LINC-JP 10 97319837 97319837 single base substitution T G intron_variant LINC-JP 10 97320832 97320832 single base substitution A C intron_variant LIRI-JP 10 97069909 97069909 insertion of <=200bp - T downstream_gene_variant LIRI-JP 10 97071653 97071653 single base substitution T C 3_prime_UTR_variant LIRI-JP 10 97071653 97071653 single base substitution T C downstream_gene_variant LIRI-JP 10 97071892 97071892 single base substitution T A 3_prime_UTR_variant LIRI-JP 10 97071892 97071892 single base substitution T A downstream_gene_variant LIRI-JP 10 97075000 97075000 single base substitution T C intron_variant LIRI-JP 10 97076550 97076550 single base substitution T C intron_variant LIRI-JP 10 97078031 97078031 single base substitution T A intron_variant LIRI-JP 10 97079275 97079275 single base substitution C T intron_variant LIRI-JP 10 97080652 97080652 single base substitution T C intron_variant LIRI-JP 10 97081214 97081214 single base substitution C T intron_variant LIRI-JP 10 97082299 97082299 single base substitution T C intron_variant LIRI-JP 10 97083307 97083307 single base substitution C A intron_variant LIRI-JP 10 97086319 97086319 single base substitution T C intron_variant LIRI-JP 10 97086785 97086785 single base substitution A T intron_variant LIRI-JP 10 97088280 97088280 single base substitution A G intron_variant LIRI-JP 10 97092127 97092127 single base substitution T A intron_variant LIRI-JP 10 97096260 97096260 single base substitution G A intron_variant LIRI-JP 10 97097046 97097046 single base substitution G A downstream_gene_variant LIRI-JP 10 97097046 97097046 single base substitution G A intron_variant LIRI-JP 10 97097046 97097046 single base substitution G A synonymous_variant S911S 2733C>T LIRI-JP 10 97097046 97097046 single base substitution G A synonymous_variant S957S 2871C>T LIRI-JP 10 97102012 97102012 single base substitution T C intron_variant LIRI-JP 10 97104539 97104539 single base substitution A C intron_variant LIRI-JP 10 97105157 97105157 single base substitution C T intron_variant LIRI-JP 10 97110216 97110216 single base substitution G A intron_variant LIRI-JP 10 97115739 97115739 single base substitution C G intron_variant LIRI-JP 10 97115739 97115739 single base substitution C G missense_variant R21S 63G>C LIRI-JP 10 97115739 97115739 single base substitution C G missense_variant R851S 2553G>C LIRI-JP 10 97116046 97116046 single base substitution T C intron_variant LIRI-JP 10 97116046 97116046 single base substitution T C missense_variant Y749C 2246A>G LIRI-JP 10 97116046 97116046 single base substitution T C upstream_gene_variant LIRI-JP 10 97117266 97117266 single base substitution C T intron_variant LIRI-JP 10 97117266 97117266 single base substitution C T upstream_gene_variant LIRI-JP 10 97117743 97117743 single base substitution A G intron_variant LIRI-JP 10 97117743 97117743 single base substitution A G upstream_gene_variant LIRI-JP 10 97119723 97119723 single base substitution A G intron_variant LIRI-JP 10 97119723 97119723 single base substitution A G upstream_gene_variant LIRI-JP 10 97119725 97119725 single base substitution T C intron_variant LIRI-JP 10 97119725 97119725 single base substitution T C upstream_gene_variant LIRI-JP 10 97121884 97121884 single base substitution A G intron_variant LIRI-JP 10 97121893 97121893 single base substitution A C intron_variant LIRI-JP 10 97122480 97122480 single base substitution A G intron_variant LIRI-JP 10 97122862 97122862 single base substitution T C intron_variant LIRI-JP 10 97125282 97125282 single base substitution A C intron_variant LIRI-JP 10 97126386 97126386 single base substitution C A intron_variant LIRI-JP 10 97127251 97127251 single base substitution A T intron_variant LIRI-JP 10 97131944 97131944 single base substitution G C intron_variant LIRI-JP 10 97133610 97133610 single base substitution T C intron_variant LIRI-JP 10 97135692 97135692 single base substitution T C intron_variant LIRI-JP 10 97138489 97138489 single base substitution C T downstream_gene_variant LIRI-JP 10 97138489 97138489 single base substitution C T intron_variant LIRI-JP 10 97138549 97138556 deletion of <=200bp CTGAACTT - downstream_gene_variant LIRI-JP 10 97138549 97138556 deletion of <=200bp CTGAACTT - intron_variant LIRI-JP 10 97145102 97145102 single base substitution T C intron_variant LIRI-JP 10 97145102 97145102 single base substitution T C upstream_gene_variant LIRI-JP 10 97147950 97147950 single base substitution T A intron_variant LIRI-JP 10 97147950 97147950 single base substitution T A upstream_gene_variant LIRI-JP 10 97151179 97151179 single base substitution T C intron_variant LIRI-JP 10 97153337 97153337 single base substitution G C intron_variant LIRI-JP 10 97155321 97155321 single base substitution G C downstream_gene_variant LIRI-JP 10 97155321 97155321 single base substitution G C intron_variant LIRI-JP 10 97156871 97156871 single base substitution C T downstream_gene_variant LIRI-JP 10 97156871 97156871 single base substitution C T intron_variant LIRI-JP 10 97161943 97161943 single base substitution A C intron_variant LIRI-JP 10 97162515 97162515 single base substitution G A intron_variant LIRI-JP 10 97176508 97176508 single base substitution A G intron_variant LIRI-JP 10 97176508 97176508 single base substitution A G upstream_gene_variant LIRI-JP 10 97182470 97182470 single base substitution G A intron_variant LIRI-JP 10 97184359 97184359 single base substitution C T intron_variant LIRI-JP 10 97186125 97186125 single base substitution T C intron_variant LIRI-JP 10 97187970 97187970 single base substitution A T intron_variant LIRI-JP 10 97188559 97188559 single base substitution T C intron_variant LIRI-JP 10 97188865 97188865 single base substitution T C intron_variant LIRI-JP 10 97192178 97192178 single base substitution G T intron_variant LIRI-JP 10 97192635 97192635 single base substitution T C intron_variant LIRI-JP 10 97193153 97193153 single base substitution C T intron_variant LIRI-JP 10 97193875 97193875 single base substitution G A intron_variant LIRI-JP 10 97194937 97194937 single base substitution A C intron_variant LIRI-JP 10 97197476 97197476 single base substitution G A intron_variant LIRI-JP 10 97198194 97198194 single base substitution T C intron_variant LIRI-JP 10 97203085 97203085 single base substitution T A intron_variant LIRI-JP 10 97203085 97203085 single base substitution T A upstream_gene_variant LIRI-JP 10 97204765 97204765 single base substitution T C intron_variant LIRI-JP 10 97204765 97204765 single base substitution T C upstream_gene_variant LIRI-JP 10 97205148 97205148 single base substitution G T intron_variant LIRI-JP 10 97205148 97205148 single base substitution G T upstream_gene_variant LIRI-JP 10 97205160 97205160 single base substitution C A intron_variant LIRI-JP 10 97205160 97205160 single base substitution C A upstream_gene_variant LIRI-JP 10 97206225 97206225 deletion of <=200bp T - intron_variant LIRI-JP 10 97206754 97206754 single base substitution C A intron_variant LIRI-JP 10 97214943 97214943 single base substitution C T intron_variant LIRI-JP 10 97215847 97215847 single base substitution T G intron_variant LIRI-JP 10 97216608 97216608 single base substitution T C intron_variant LIRI-JP 10 97217839 97217839 single base substitution A G intron_variant LIRI-JP 10 97219592 97219592 single base substitution T G intron_variant LIRI-JP 10 97220112 97220112 single base substitution T A intron_variant LIRI-JP 10 97224178 97224178 single base substitution T C intron_variant LIRI-JP 10 97229349 97229349 single base substitution T C intron_variant LIRI-JP 10 97230531 97230531 single base substitution T A intron_variant LIRI-JP 10 97232067 97232067 single base substitution T A intron_variant LIRI-JP 10 97233748 97233748 single base substitution T C intron_variant LIRI-JP 10 97234803 97234803 single base substitution A C intron_variant LIRI-JP 10 97236603 97236603 single base substitution A T intron_variant LIRI-JP 10 97238104 97238104 single base substitution A T intron_variant LIRI-JP 10 97242386 97242386 single base substitution A G 5_prime_UTR_variant LIRI-JP 10 97242386 97242386 single base substitution A G intron_variant LIRI-JP 10 97243040 97243047 deletion of <=200bp AGTTCAGT - intron_variant LIRI-JP 10 97243040 97243047 deletion of <=200bp AGTTCAGT - upstream_gene_variant LIRI-JP 10 97245014 97245014 single base substitution C A intron_variant LIRI-JP 10 97245014 97245014 single base substitution C A upstream_gene_variant LIRI-JP 10 97246091 97246091 single base substitution A T downstream_gene_variant LIRI-JP 10 97246091 97246091 single base substitution A T intron_variant LIRI-JP 10 97246091 97246091 single base substitution A T upstream_gene_variant LIRI-JP 10 97249053 97249053 single base substitution A G downstream_gene_variant LIRI-JP 10 97249053 97249053 single base substitution A G intron_variant LIRI-JP 10 97249557 97249557 single base substitution C T downstream_gene_variant LIRI-JP 10 97249557 97249557 single base substitution C T intron_variant LIRI-JP 10 97250686 97250686 single base substitution T A exon_variant LIRI-JP 10 97250686 97250686 single base substitution T A intron_variant LIRI-JP 10 97251249 97251249 single base substitution A G intron_variant LIRI-JP 10 97251737 97251737 single base substitution C G intron_variant LIRI-JP 10 97254878 97254878 single base substitution G A intron_variant LIRI-JP 10 97254878 97254878 single base substitution G A upstream_gene_variant LIRI-JP 10 97256702 97256702 single base substitution A C intron_variant LIRI-JP 10 97256702 97256702 single base substitution A C upstream_gene_variant LIRI-JP 10 97258156 97258156 single base substitution T C intron_variant LIRI-JP 10 97259009 97259009 single base substitution T C intron_variant LIRI-JP 10 97259107 97259107 single base substitution G T intron_variant LIRI-JP 10 97259108 97259108 single base substitution C A intron_variant LIRI-JP 10 97260804 97260804 single base substitution C G intron_variant LIRI-JP 10 97261476 97261476 single base substitution T G intron_variant LIRI-JP 10 97261713 97261713 single base substitution T A intron_variant LIRI-JP 10 97264656 97264656 single base substitution T C intron_variant LIRI-JP 10 97265538 97265538 single base substitution T A intron_variant LIRI-JP 10 97266721 97266721 single base substitution G A intron_variant LIRI-JP 10 97266791 97266791 single base substitution T C intron_variant LIRI-JP 10 97270822 97270822 single base substitution T C intron_variant LIRI-JP 10 97271491 97271497 deletion of <=200bp AGTAGGA - intron_variant LIRI-JP 10 97271691 97271691 single base substitution A T intron_variant LIRI-JP 10 97273504 97273504 single base substitution G A intron_variant LIRI-JP 10 97277958 97277958 single base substitution G A intron_variant LIRI-JP 10 97281860 97281860 single base substitution T G intron_variant LIRI-JP 10 97286929 97286929 single base substitution C T intron_variant LIRI-JP 10 97286930 97286930 single base substitution C A intron_variant LIRI-JP 10 97287392 97287392 single base substitution T C intron_variant LIRI-JP 10 97288921 97288921 single base substitution G A intron_variant LIRI-JP 10 97290113 97290113 single base substitution A G intron_variant LIRI-JP 10 97291277 97291277 single base substitution A T intron_variant LIRI-JP 10 97293463 97293463 single base substitution T A intron_variant LIRI-JP 10 97293480 97293480 single base substitution A G intron_variant LIRI-JP 10 97296691 97296691 single base substitution G T intron_variant LIRI-JP 10 97297859 97297859 single base substitution A G intron_variant LIRI-JP 10 97298459 97298459 single base substitution T G intron_variant LIRI-JP 10 97301268 97301268 single base substitution T G intron_variant LIRI-JP 10 97301699 97301699 single base substitution T C intron_variant LIRI-JP 10 97302547 97302547 single base substitution T C intron_variant LIRI-JP 10 97304528 97304528 single base substitution G T intron_variant LIRI-JP 10 97305183 97305183 single base substitution C T intron_variant LIRI-JP 10 97311990 97311990 single base substitution C G intron_variant LIRI-JP 10 97312739 97312739 single base substitution A C intron_variant LIRI-JP 10 97313152 97313152 single base substitution A C intron_variant LIRI-JP 10 97313235 97313235 single base substitution G T intron_variant LIRI-JP 10 97315081 97315081 single base substitution G A intron_variant LIRI-JP 10 97318345 97318345 single base substitution T C intron_variant LIRI-JP 10 97318689 97318689 single base substitution G A intron_variant LIRI-JP 10 97322208 97322208 single base substitution C T upstream_gene_variant LUSC-KR 10 97067527 97067527 single base substitution G A downstream_gene_variant LUSC-KR 10 97076735 97076735 single base substitution G C intron_variant LUSC-KR 10 97090401 97090401 single base substitution G A intron_variant LUSC-KR 10 97090440 97090440 single base substitution C G intron_variant LUSC-KR 10 97101539 97101539 single base substitution G T intron_variant LUSC-KR 10 97102641 97102641 single base substitution T A intron_variant LUSC-KR 10 97106108 97106108 single base substitution C A intron_variant LUSC-KR 10 97108760 97108760 single base substitution A T intron_variant LUSC-KR 10 97114560 97114560 single base substitution C T intron_variant LUSC-KR 10 97139007 97139007 single base substitution C A downstream_gene_variant LUSC-KR 10 97139007 97139007 single base substitution C A intron_variant LUSC-KR 10 97141282 97141282 single base substitution C A downstream_gene_variant LUSC-KR 10 97141282 97141282 single base substitution C A exon_variant LUSC-KR 10 97141282 97141282 single base substitution C A intron_variant LUSC-KR 10 97146357 97146357 single base substitution T C intron_variant LUSC-KR 10 97146357 97146357 single base substitution T C upstream_gene_variant LUSC-KR 10 97147551 97147551 single base substitution C G intron_variant LUSC-KR 10 97147551 97147551 single base substitution C G upstream_gene_variant LUSC-KR 10 97149777 97149777 single base substitution C G intron_variant LUSC-KR 10 97154682 97154682 single base substitution A T downstream_gene_variant LUSC-KR 10 97154682 97154682 single base substitution A T intron_variant LUSC-KR 10 97154698 97154698 single base substitution G A downstream_gene_variant LUSC-KR 10 97154698 97154698 single base substitution G A intron_variant LUSC-KR 10 97156251 97156251 single base substitution G A downstream_gene_variant LUSC-KR 10 97156251 97156251 single base substitution G A intron_variant LUSC-KR 10 97170028 97170028 single base substitution G C downstream_gene_variant LUSC-KR 10 97170028 97170028 single base substitution G C intron_variant LUSC-KR 10 97174352 97174352 single base substitution T C downstream_gene_variant LUSC-KR 10 97174352 97174352 single base substitution T C exon_variant LUSC-KR 10 97174352 97174352 single base substitution T C intron_variant LUSC-KR 10 97174352 97174352 single base substitution T C missense_variant T168A 502A>G LUSC-KR 10 97174352 97174352 single base substitution T C missense_variant T205A 613A>G LUSC-KR 10 97174352 97174352 single base substitution T C missense_variant T228A 682A>G LUSC-KR 10 97174352 97174352 single base substitution T C missense_variant T237A 709A>G LUSC-KR 10 97174352 97174352 single base substitution T C upstream_gene_variant LUSC-KR 10 97174822 97174822 single base substitution G T intron_variant LUSC-KR 10 97174822 97174822 single base substitution G T upstream_gene_variant LUSC-KR 10 97188563 97188563 single base substitution G T intron_variant LUSC-KR 10 97192166 97192166 single base substitution C A intron_variant LUSC-KR 10 97194166 97194166 single base substitution C G intron_variant LUSC-KR 10 97195487 97195487 single base substitution A T intron_variant LUSC-KR 10 97196313 97196313 single base substitution G A intron_variant LUSC-KR 10 97197083 97197083 single base substitution C A intron_variant LUSC-KR 10 97208375 97208375 single base substitution A G intron_variant LUSC-KR 10 97213207 97213207 single base substitution A T intron_variant LUSC-KR 10 97223061 97223061 single base substitution A T intron_variant LUSC-KR 10 97232561 97232561 single base substitution G A intron_variant LUSC-KR 10 97232853 97232853 single base substitution C T intron_variant LUSC-KR 10 97237739 97237739 single base substitution G C intron_variant LUSC-KR 10 97240867 97240867 single base substitution T C intron_variant LUSC-KR 10 97243996 97243996 single base substitution G A intron_variant LUSC-KR 10 97243996 97243996 single base substitution G A upstream_gene_variant LUSC-KR 10 97248950 97248950 single base substitution C T downstream_gene_variant LUSC-KR 10 97248950 97248950 single base substitution C T intron_variant LUSC-KR 10 97256139 97256139 single base substitution C A intron_variant LUSC-KR 10 97256139 97256139 single base substitution C A upstream_gene_variant LUSC-KR 10 97259132 97259132 single base substitution T C intron_variant LUSC-KR 10 97273205 97273205 single base substitution G C intron_variant LUSC-KR 10 97276444 97276444 single base substitution G A intron_variant LUSC-KR 10 97277124 97277124 single base substitution G A intron_variant LUSC-KR 10 97282825 97282825 single base substitution C T intron_variant LUSC-KR 10 97295897 97295897 single base substitution C A intron_variant LUSC-KR 10 97298113 97298113 single base substitution C G intron_variant LUSC-KR 10 97309327 97309327 single base substitution G A intron_variant LUSC-KR 10 97310878 97310878 single base substitution C T intron_variant LUSC-KR 10 97324071 97324071 single base substitution G A upstream_gene_variant LUSC-US 10 97098986 97098986 single base substitution C A downstream_gene_variant LUSC-US 10 97098986 97098986 single base substitution C A synonymous_variant V1183V 3549G>T LUSC-US 10 97098986 97098986 single base substitution C A synonymous_variant V573V 1719G>T LUSC-US 10 97098986 97098986 single base substitution C A synonymous_variant V670V 2010G>T LUSC-US 10 97098986 97098986 single base substitution C A synonymous_variant V700V 2100G>T LUSC-US 10 97098986 97098986 single base substitution C A synonymous_variant V705V 2115G>T LUSC-US 10 97098986 97098986 single base substitution C A synonymous_variant V735V 2205G>T LUSC-US 10 97098986 97098986 single base substitution C A synonymous_variant V774V 2322G>T LUSC-US 10 97098986 97098986 single base substitution C A synonymous_variant V877V 2631G>T LUSC-US 10 97098986 97098986 single base substitution C A synonymous_variant V893V 2679G>T LUSC-US 10 97098986 97098986 single base substitution C A synonymous_variant V923V 2769G>T LUSC-US 10 97098986 97098986 single base substitution C A synonymous_variant V945V 2835G>T LUSC-US 10 97131754 97131754 single base substitution C G intron_variant LUSC-US 10 97131754 97131754 single base substitution C G missense_variant R482T 1445G>C LUSC-US 10 97131754 97131754 single base substitution C G missense_variant R551T 1652G>C LUSC-US 10 97131754 97131754 single base substitution C G missense_variant R567T 1700G>C LUSC-US 10 97131754 97131754 single base substitution C G missense_variant R597T 1790G>C LUSC-US 10 97131754 97131754 single base substitution C G missense_variant R619T 1856G>C LUSC-US 10 97135751 97135751 single base substitution C T intron_variant LUSC-US 10 97135751 97135751 single base substitution C T synonymous_variant S361S 1083G>A LUSC-US 10 97135751 97135751 single base substitution C T synonymous_variant S371S 1113G>A LUSC-US 10 97135751 97135751 single base substitution C T synonymous_variant S440S 1320G>A LUSC-US 10 97135751 97135751 single base substitution C T synonymous_variant S457S 1371G>A LUSC-US 10 97135751 97135751 single base substitution C T synonymous_variant S526S 1578G>A LUSC-US 10 97135751 97135751 single base substitution C T synonymous_variant S542S 1626G>A LUSC-US 10 97135751 97135751 single base substitution C T synonymous_variant S572S 1716G>A LUSC-US 10 97135751 97135751 single base substitution C T synonymous_variant S594S 1782G>A LUSC-US 10 97158878 97158878 single base substitution C T exon_variant LUSC-US 10 97158878 97158878 single base substitution C T missense_variant G157S 469G>A LUSC-US 10 97158878 97158878 single base substitution C T missense_variant G187S 559G>A LUSC-US 10 97158878 97158878 single base substitution C T missense_variant G188S 562G>A LUSC-US 10 97158878 97158878 single base substitution C T missense_variant G197S 589G>A LUSC-US 10 97158878 97158878 single base substitution C T missense_variant G220S 658G>A LUSC-US 10 97158878 97158878 single base substitution C T missense_variant G229S 685G>A LUSC-US 10 97158878 97158878 single base substitution C T missense_variant G283S 847G>A LUSC-US 10 97158878 97158878 single base substitution C T missense_variant G320S 958G>A LUSC-US 10 97158878 97158878 single base substitution C T missense_variant G343S 1027G>A LUSC-US 10 97158878 97158878 single base substitution C T missense_variant G352S 1054G>A LUSC-US 10 97170424 97170424 single base substitution G C downstream_gene_variant LUSC-US 10 97170424 97170424 single base substitution G C exon_variant LUSC-US 10 97170424 97170424 single base substitution G C synonymous_variant V112V 336C>G LUSC-US 10 97170424 97170424 single base substitution G C synonymous_variant V143V 429C>G LUSC-US 10 97170424 97170424 single base substitution G C synonymous_variant V152V 456C>G LUSC-US 10 97170424 97170424 single base substitution G C synonymous_variant V175V 525C>G LUSC-US 10 97170424 97170424 single base substitution G C synonymous_variant V184V 552C>G LUSC-US 10 97170424 97170424 single base substitution G C synonymous_variant V238V 714C>G LUSC-US 10 97170424 97170424 single base substitution G C synonymous_variant V275V 825C>G LUSC-US 10 97170424 97170424 single base substitution G C synonymous_variant V298V 894C>G LUSC-US 10 97170424 97170424 single base substitution G C synonymous_variant V307V 921C>G LUSC-US 10 97174445 97174445 single base substitution T G downstream_gene_variant LUSC-US 10 97174445 97174445 single base substitution T G exon_variant LUSC-US 10 97174445 97174445 single base substitution T G intron_variant LUSC-US 10 97174445 97174445 single base substitution T G missense_variant T174P 520A>C LUSC-US 10 97174445 97174445 single base substitution T G missense_variant T197P 589A>C LUSC-US 10 97174445 97174445 single base substitution T G missense_variant T206P 616A>C LUSC-US 10 97174445 97174445 single base substitution T G upstream_gene_variant LUSC-US 10 97174525 97174525 single base substitution G C exon_variant LUSC-US 10 97174525 97174525 single base substitution G C intron_variant LUSC-US 10 97174525 97174525 single base substitution G C missense_variant P138R 413C>G LUSC-US 10 97174525 97174525 single base substitution G C missense_variant P147R 440C>G LUSC-US 10 97174525 97174525 single base substitution G C missense_variant P170R 509C>G LUSC-US 10 97174525 97174525 single base substitution G C missense_variant P179R 536C>G LUSC-US 10 97174525 97174525 single base substitution G C upstream_gene_variant LUSC-US 10 97192217 97192217 single base substitution C T exon_variant LUSC-US 10 97192217 97192217 single base substitution C T missense_variant E65K 193G>A LUSC-US 10 97192217 97192217 single base substitution C T missense_variant E97K 289G>A LUSC-US 10 97194428 97194428 single base substitution G A intron_variant LUSC-US 10 97194428 97194428 single base substitution G A synonymous_variant I41I 123C>T MALY-DE 10 97068063 97068063 single base substitution G C downstream_gene_variant MALY-DE 10 97068237 97068237 single base substitution A G downstream_gene_variant MALY-DE 10 97070782 97070782 single base substitution A G downstream_gene_variant MALY-DE 10 97077439 97077439 single base substitution A T intron_variant MALY-DE 10 97085473 97085473 insertion of <=200bp - T intron_variant MALY-DE 10 97091212 97091212 single base substitution C T intron_variant MALY-DE 10 97099518 97099518 single base substitution C T downstream_gene_variant MALY-DE 10 97099518 97099518 single base substitution C T intron_variant MALY-DE 10 97101171 97101171 single base substitution A C downstream_gene_variant MALY-DE 10 97101171 97101171 single base substitution A C splice_region_variant MALY-DE 10 97104169 97104169 deletion of <=200bp T - intron_variant MALY-DE 10 97104718 97104718 single base substitution A T intron_variant MALY-DE 10 97106792 97106792 single base substitution C T intron_variant MALY-DE 10 97107533 97107533 single base substitution G C intron_variant MALY-DE 10 97110976 97110976 single base substitution G T exon_variant MALY-DE 10 97110976 97110976 single base substitution G T intron_variant MALY-DE 10 97110976 97110976 single base substitution G T missense_variant S1051Y 3152C>A MALY-DE 10 97110976 97110976 single base substitution G T missense_variant S538Y 1613C>A MALY-DE 10 97110976 97110976 single base substitution G T missense_variant S568Y 1703C>A MALY-DE 10 97110976 97110976 single base substitution G T missense_variant S603Y 1808C>A MALY-DE 10 97110976 97110976 single base substitution G T missense_variant S642Y 1925C>A MALY-DE 10 97110976 97110976 single base substitution G T missense_variant S745Y 2234C>A MALY-DE 10 97110976 97110976 single base substitution G T missense_variant S761Y 2282C>A MALY-DE 10 97110976 97110976 single base substitution G T missense_variant S791Y 2372C>A MALY-DE 10 97110976 97110976 single base substitution G T missense_variant S813Y 2438C>A MALY-DE 10 97115626 97115626 single base substitution T G intron_variant MALY-DE 10 97115626 97115626 single base substitution T G missense_variant D59A 176A>C MALY-DE 10 97115626 97115626 single base substitution T G missense_variant D889A 2666A>C MALY-DE 10 97119556 97119556 single base substitution C T intron_variant MALY-DE 10 97119556 97119556 single base substitution C T upstream_gene_variant MALY-DE 10 97121976 97121976 single base substitution T C intron_variant MALY-DE 10 97124199 97124199 single base substitution G T intron_variant MALY-DE 10 97131091 97131091 single base substitution C G intron_variant MALY-DE 10 97131091 97131091 single base substitution C G missense_variant V400L 1198G>C MALY-DE 10 97131091 97131091 single base substitution C G missense_variant V410L 1228G>C MALY-DE 10 97131091 97131091 single base substitution C G missense_variant V587L 1759G>C MALY-DE 10 97131091 97131091 single base substitution C G missense_variant V603L 1807G>C MALY-DE 10 97131091 97131091 single base substitution C G missense_variant V633L 1897G>C MALY-DE 10 97131091 97131091 single base substitution C G missense_variant V655L 1963G>C MALY-DE 10 97133900 97133900 single base substitution G T intron_variant MALY-DE 10 97138495 97138496 deletion of <=200bp TG - downstream_gene_variant MALY-DE 10 97138495 97138496 deletion of <=200bp TG - intron_variant MALY-DE 10 97139398 97139398 single base substitution A C downstream_gene_variant MALY-DE 10 97139398 97139398 single base substitution A C intron_variant MALY-DE 10 97141874 97141874 single base substitution T C downstream_gene_variant MALY-DE 10 97141874 97141874 single base substitution T C intron_variant MALY-DE 10 97152642 97152642 single base substitution C T intron_variant MALY-DE 10 97156694 97156694 single base substitution C G downstream_gene_variant MALY-DE 10 97156694 97156694 single base substitution C G intron_variant MALY-DE 10 97157291 97157291 single base substitution G T downstream_gene_variant MALY-DE 10 97157291 97157291 single base substitution G T intron_variant MALY-DE 10 97158210 97158210 single base substitution C T downstream_gene_variant MALY-DE 10 97158210 97158210 single base substitution C T intron_variant MALY-DE 10 97160216 97160216 single base substitution A T intron_variant MALY-DE 10 97170234 97170234 single base substitution T C downstream_gene_variant MALY-DE 10 97170234 97170234 single base substitution T C intron_variant MALY-DE 10 97180167 97180167 single base substitution C T intron_variant MALY-DE 10 97180167 97180167 single base substitution C T upstream_gene_variant MALY-DE 10 97181383 97181383 deletion of <=200bp T - intron_variant MALY-DE 10 97181383 97181383 insertion of <=200bp - T intron_variant MALY-DE 10 97183106 97183106 single base substitution A T intron_variant MALY-DE 10 97190532 97190532 single base substitution A T intron_variant MALY-DE 10 97203558 97203558 single base substitution A C intron_variant MALY-DE 10 97203558 97203558 single base substitution A C upstream_gene_variant MALY-DE 10 97209445 97209445 deletion of <=200bp T - intron_variant MALY-DE 10 97212517 97212518 deletion of <=200bp AC - intron_variant MALY-DE 10 97216750 97216750 single base substitution A G intron_variant MALY-DE 10 97217781 97217781 insertion of <=200bp - A intron_variant MALY-DE 10 97223268 97223268 single base substitution G T intron_variant MALY-DE 10 97228210 97228210 single base substitution T C intron_variant MALY-DE 10 97230567 97230567 single base substitution C T intron_variant MALY-DE 10 97230788 97230788 deletion of <=200bp A - intron_variant MALY-DE 10 97241918 97241918 single base substitution C T intron_variant MALY-DE 10 97257715 97257715 single base substitution C T intron_variant MALY-DE 10 97257715 97257715 single base substitution C T upstream_gene_variant MALY-DE 10 97271264 97271264 single base substitution G A intron_variant MALY-DE 10 97282496 97282496 single base substitution T G intron_variant MALY-DE 10 97287679 97287679 single base substitution T A intron_variant MALY-DE 10 97290276 97290276 single base substitution A C intron_variant MALY-DE 10 97293985 97293985 single base substitution C T intron_variant MALY-DE 10 97299164 97299164 single base substitution A T intron_variant MALY-DE 10 97300142 97300142 single base substitution C A intron_variant MALY-DE 10 97300794 97300794 single base substitution C T intron_variant MALY-DE 10 97305610 97305610 single base substitution A G intron_variant MALY-DE 10 97306782 97306782 single base substitution C T intron_variant MALY-DE 10 97310574 97310574 insertion of <=200bp - A intron_variant MALY-DE 10 97314450 97314451 deletion of <=200bp AC - intron_variant MALY-DE 10 97324879 97324879 single base substitution T A upstream_gene_variant MALY-DE 10 97325456 97325456 single base substitution A C upstream_gene_variant MELA-AU 10 97066972 97066972 single base substitution C T downstream_gene_variant MELA-AU 10 97067226 97067226 single base substitution C T downstream_gene_variant MELA-AU 10 97067684 97067684 single base substitution C T downstream_gene_variant MELA-AU 10 97068150 97068150 single base substitution T C downstream_gene_variant MELA-AU 10 97068600 97068600 single base substitution C T downstream_gene_variant MELA-AU 10 97069111 97069111 single base substitution C T downstream_gene_variant MELA-AU 10 97069594 97069594 single base substitution A T downstream_gene_variant MELA-AU 10 97069625 97069625 single base substitution G A downstream_gene_variant MELA-AU 10 97069660 97069660 single base substitution G C downstream_gene_variant MELA-AU 10 97069808 97069808 single base substitution G A downstream_gene_variant MELA-AU 10 97069937 97069937 single base substitution C T downstream_gene_variant MELA-AU 10 97070269 97070269 single base substitution G A downstream_gene_variant MELA-AU 10 97070721 97070721 single base substitution T A downstream_gene_variant MELA-AU 10 97070744 97070744 single base substitution G A downstream_gene_variant MELA-AU 10 97070770 97070770 single base substitution G A downstream_gene_variant MELA-AU 10 97071028 97071028 single base substitution G A downstream_gene_variant MELA-AU 10 97071079 97071079 single base substitution G A downstream_gene_variant MELA-AU 10 97071432 97071432 single base substitution G A downstream_gene_variant MELA-AU 10 97071847 97071847 single base substitution G A 3_prime_UTR_variant MELA-AU 10 97071847 97071847 single base substitution G A downstream_gene_variant MELA-AU 10 97071965 97071965 single base substitution G A 3_prime_UTR_variant MELA-AU 10 97071965 97071965 single base substitution G A downstream_gene_variant MELA-AU 10 97072167 97072167 single base substitution G A 3_prime_UTR_variant MELA-AU 10 97072167 97072167 single base substitution G A downstream_gene_variant MELA-AU 10 97072928 97072928 single base substitution T C 3_prime_UTR_variant MELA-AU 10 97072928 97072928 single base substitution T C downstream_gene_variant MELA-AU 10 97073063 97073063 single base substitution G A 3_prime_UTR_variant MELA-AU 10 97073063 97073063 single base substitution G A downstream_gene_variant MELA-AU 10 97074034 97074034 single base substitution G A 3_prime_UTR_variant MELA-AU 10 97074034 97074034 single base substitution G A downstream_gene_variant MELA-AU 10 97074149 97074149 single base substitution G A 3_prime_UTR_variant MELA-AU 10 97074149 97074149 single base substitution G A downstream_gene_variant MELA-AU 10 97074538 97074538 single base substitution G A 3_prime_UTR_variant MELA-AU 10 97074538 97074538 single base substitution G A downstream_gene_variant MELA-AU 10 97074745 97074745 single base substitution A C 3_prime_UTR_variant MELA-AU 10 97074745 97074745 single base substitution A C downstream_gene_variant MELA-AU 10 97075340 97075340 single base substitution G A intron_variant MELA-AU 10 97075853 97075853 single base substitution G A intron_variant MELA-AU 10 97075854 97075854 single base substitution G A intron_variant MELA-AU 10 97075959 97075959 single base substitution C T intron_variant MELA-AU 10 97077707 97077707 single base substitution G A intron_variant MELA-AU 10 97078519 97078519 single base substitution A G intron_variant MELA-AU 10 97078559 97078559 single base substitution T A intron_variant MELA-AU 10 97078582 97078582 single base substitution G T intron_variant MELA-AU 10 97080250 97080250 single base substitution C G intron_variant MELA-AU 10 97080405 97080405 single base substitution G A intron_variant MELA-AU 10 97080738 97080738 single base substitution C T intron_variant MELA-AU 10 97081360 97081360 single base substitution G A intron_variant MELA-AU 10 97081844 97081844 single base substitution G A intron_variant MELA-AU 10 97081926 97081926 single base substitution G A intron_variant MELA-AU 10 97081977 97081977 single base substitution G A intron_variant MELA-AU 10 97082272 97082272 single base substitution A G intron_variant MELA-AU 10 97082620 97082620 single base substitution G A intron_variant MELA-AU 10 97082727 97082727 single base substitution T G intron_variant MELA-AU 10 97082977 97082977 single base substitution C T intron_variant MELA-AU 10 97083026 97083026 single base substitution G A intron_variant MELA-AU 10 97083599 97083599 single base substitution A T intron_variant MELA-AU 10 97083672 97083672 single base substitution G A intron_variant MELA-AU 10 97083964 97083964 single base substitution C T intron_variant MELA-AU 10 97084061 97084061 single base substitution G A intron_variant MELA-AU 10 97084282 97084282 single base substitution A C intron_variant MELA-AU 10 97085020 97085020 single base substitution G A intron_variant MELA-AU 10 97085526 97085527 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 97086051 97086054 deletion of <=200bp ATTA - intron_variant MELA-AU 10 97086242 97086242 single base substitution G A intron_variant MELA-AU 10 97086880 97086880 single base substitution G A intron_variant MELA-AU 10 97087130 97087130 single base substitution C T intron_variant MELA-AU 10 97089370 97089370 single base substitution G A intron_variant MELA-AU 10 97090086 97090086 single base substitution G A intron_variant MELA-AU 10 97090136 97090136 single base substitution G A intron_variant MELA-AU 10 97091759 97091759 single base substitution G A intron_variant MELA-AU 10 97091828 97091828 single base substitution G A intron_variant MELA-AU 10 97091915 97091915 single base substitution C T intron_variant MELA-AU 10 97092701 97092701 single base substitution G T intron_variant MELA-AU 10 97094231 97094231 single base substitution G A intron_variant MELA-AU 10 97094246 97094246 single base substitution G A intron_variant MELA-AU 10 97094301 97094302 multiple base substitution (>=2bp and <=200bp) CA AG intron_variant MELA-AU 10 97095410 97095410 single base substitution C T intron_variant MELA-AU 10 97095416 97095416 single base substitution C T intron_variant MELA-AU 10 97095881 97095881 single base substitution C T intron_variant MELA-AU 10 97095973 97095973 single base substitution G A intron_variant MELA-AU 10 97096327 97096327 single base substitution C T intron_variant MELA-AU 10 97096327 97096327 single base substitution C T missense_variant R1056K 3167G>A MELA-AU 10 97096327 97096327 single base substitution C T missense_variant R1151K 3452G>A MELA-AU 10 97096327 97096327 single base substitution C T missense_variant R1197K 3590G>A MELA-AU 10 97096361 97096361 single base substitution G A downstream_gene_variant MELA-AU 10 97096361 97096361 single base substitution G A intron_variant MELA-AU 10 97096361 97096361 single base substitution G A missense_variant P1045S 3133C>T MELA-AU 10 97096361 97096361 single base substitution G A missense_variant P1140S 3418C>T MELA-AU 10 97096361 97096361 single base substitution G A missense_variant P1186S 3556C>T MELA-AU 10 97096790 97096790 single base substitution G A downstream_gene_variant MELA-AU 10 97096790 97096790 single base substitution G A intron_variant MELA-AU 10 97096790 97096790 single base substitution G A missense_variant R1043C 3127C>T MELA-AU 10 97096790 97096790 single base substitution G A missense_variant R997C 2989C>T MELA-AU 10 97096831 97096831 single base substitution G A downstream_gene_variant MELA-AU 10 97096831 97096831 single base substitution G A intron_variant MELA-AU 10 97096831 97096831 single base substitution G A missense_variant P1029L 3086C>T MELA-AU 10 97096831 97096831 single base substitution G A missense_variant P983L 2948C>T MELA-AU 10 97096854 97096854 single base substitution G A downstream_gene_variant MELA-AU 10 97096854 97096854 single base substitution G A intron_variant MELA-AU 10 97096854 97096854 single base substitution G A synonymous_variant L1021L 3063C>T MELA-AU 10 97096854 97096854 single base substitution G A synonymous_variant L975L 2925C>T MELA-AU 10 97096988 97096988 single base substitution G A downstream_gene_variant MELA-AU 10 97096988 97096988 single base substitution G A intron_variant MELA-AU 10 97096988 97096988 single base substitution G A synonymous_variant L931L 2791C>T MELA-AU 10 97096988 97096988 single base substitution G A synonymous_variant L977L 2929C>T MELA-AU 10 97097047 97097047 single base substitution G A downstream_gene_variant MELA-AU 10 97097047 97097047 single base substitution G A intron_variant MELA-AU 10 97097047 97097047 single base substitution G A missense_variant S911F 2732C>T MELA-AU 10 97097047 97097047 single base substitution G A missense_variant S957F 2870C>T MELA-AU 10 97097292 97097292 single base substitution G A downstream_gene_variant MELA-AU 10 97097292 97097292 single base substitution G A intron_variant MELA-AU 10 97098317 97098317 single base substitution C T downstream_gene_variant MELA-AU 10 97098317 97098317 single base substitution C T intron_variant MELA-AU 10 97100199 97100199 single base substitution C A downstream_gene_variant MELA-AU 10 97100199 97100199 single base substitution C A intron_variant MELA-AU 10 97100324 97100324 single base substitution A G downstream_gene_variant MELA-AU 10 97100324 97100324 single base substitution A G intron_variant MELA-AU 10 97100567 97100567 single base substitution C T downstream_gene_variant MELA-AU 10 97100567 97100567 single base substitution C T intron_variant MELA-AU 10 97100585 97100610 deletion of <=200bp CTGGGATTACAGGCCTTAATGCAATT - downstream_gene_variant MELA-AU 10 97100585 97100610 deletion of <=200bp CTGGGATTACAGGCCTTAATGCAATT - intron_variant MELA-AU 10 97100797 97100797 single base substitution C T downstream_gene_variant MELA-AU 10 97100797 97100797 single base substitution C T intron_variant MELA-AU 10 97101217 97101217 single base substitution G A downstream_gene_variant MELA-AU 10 97101217 97101217 single base substitution G A intron_variant MELA-AU 10 97101594 97101594 single base substitution G A intron_variant MELA-AU 10 97101595 97101595 single base substitution G A intron_variant MELA-AU 10 97101744 97101744 single base substitution A T intron_variant MELA-AU 10 97102191 97102192 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 97102298 97102298 single base substitution C T intron_variant MELA-AU 10 97102644 97102644 single base substitution T A intron_variant MELA-AU 10 97103816 97103817 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 97103961 97103961 single base substitution G A intron_variant MELA-AU 10 97104538 97104538 single base substitution G A intron_variant MELA-AU 10 97104755 97104755 single base substitution G A intron_variant MELA-AU 10 97104979 97104979 single base substitution G A intron_variant MELA-AU 10 97105072 97105072 single base substitution G T intron_variant MELA-AU 10 97105074 97105074 single base substitution C T intron_variant MELA-AU 10 97105786 97105786 single base substitution G A intron_variant MELA-AU 10 97105979 97105979 single base substitution G A intron_variant MELA-AU 10 97106260 97106260 single base substitution G A intron_variant MELA-AU 10 97106367 97106367 single base substitution A G intron_variant MELA-AU 10 97106805 97106805 single base substitution A C intron_variant MELA-AU 10 97106808 97106808 single base substitution T C intron_variant MELA-AU 10 97106889 97106889 single base substitution C T intron_variant MELA-AU 10 97107114 97107114 single base substitution C T intron_variant MELA-AU 10 97107216 97107216 single base substitution G A intron_variant MELA-AU 10 97107546 97107546 single base substitution G A intron_variant MELA-AU 10 97107863 97107864 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 97107867 97107868 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 97107989 97107989 single base substitution G A intron_variant MELA-AU 10 97109448 97109448 single base substitution C T intron_variant MELA-AU 10 97109919 97109919 single base substitution G A intron_variant MELA-AU 10 97110092 97110092 single base substitution G A intron_variant MELA-AU 10 97110217 97110217 single base substitution G A intron_variant MELA-AU 10 97110313 97110313 single base substitution G A intron_variant MELA-AU 10 97110347 97110347 single base substitution G A intron_variant MELA-AU 10 97111156 97111156 single base substitution G A intron_variant MELA-AU 10 97111161 97111161 single base substitution G A intron_variant MELA-AU 10 97111342 97111342 single base substitution G A intron_variant MELA-AU 10 97112051 97112052 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 97112640 97112640 single base substitution G A intron_variant MELA-AU 10 97112689 97112689 single base substitution C T intron_variant MELA-AU 10 97112817 97112817 single base substitution G A intron_variant MELA-AU 10 97113118 97113118 single base substitution G A intron_variant MELA-AU 10 97113380 97113380 single base substitution C T intron_variant MELA-AU 10 97113837 97113837 single base substitution T C intron_variant MELA-AU 10 97114024 97114024 single base substitution G A intron_variant MELA-AU 10 97114783 97114783 single base substitution G A intron_variant MELA-AU 10 97115312 97115312 single base substitution G A intron_variant MELA-AU 10 97115552 97115552 single base substitution G T intron_variant MELA-AU 10 97115552 97115552 single base substitution G T synonymous_variant R84R 250C>A MELA-AU 10 97115552 97115552 single base substitution G T synonymous_variant R914R 2740C>A MELA-AU 10 97115586 97115586 single base substitution C T intron_variant MELA-AU 10 97115586 97115586 single base substitution C T synonymous_variant G72G 216G>A MELA-AU 10 97115586 97115586 single base substitution C T synonymous_variant G902G 2706G>A MELA-AU 10 97115714 97115714 single base substitution G A intron_variant MELA-AU 10 97115714 97115714 single base substitution G A missense_variant P30S 88C>T MELA-AU 10 97115714 97115714 single base substitution G A missense_variant P860S 2578C>T MELA-AU 10 97115932 97115932 single base substitution G A intron_variant MELA-AU 10 97115932 97115932 single base substitution G A missense_variant S787F 2360C>T MELA-AU 10 97115932 97115932 single base substitution G A upstream_gene_variant MELA-AU 10 97115993 97115993 single base substitution G T intron_variant MELA-AU 10 97115993 97115993 single base substitution G T missense_variant L767I 2299C>A MELA-AU 10 97115993 97115993 single base substitution G T upstream_gene_variant MELA-AU 10 97117408 97117408 single base substitution G A exon_variant MELA-AU 10 97117408 97117408 single base substitution G A missense_variant S409F 1226C>T MELA-AU 10 97117408 97117408 single base substitution G A missense_variant S450F 1349C>T MELA-AU 10 97117408 97117408 single base substitution G A missense_variant S470F 1409C>T MELA-AU 10 97117408 97117408 single base substitution G A missense_variant S480F 1439C>T MELA-AU 10 97117408 97117408 single base substitution G A missense_variant S515F 1544C>T MELA-AU 10 97117408 97117408 single base substitution G A missense_variant S541F 1622C>T MELA-AU 10 97117408 97117408 single base substitution G A missense_variant S554F 1661C>T MELA-AU 10 97117408 97117408 single base substitution G A missense_variant S657F 1970C>T MELA-AU 10 97117408 97117408 single base substitution G A missense_variant S673F 2018C>T MELA-AU 10 97117408 97117408 single base substitution G A missense_variant S703F 2108C>T MELA-AU 10 97117408 97117408 single base substitution G A missense_variant S725F 2174C>T MELA-AU 10 97117408 97117408 single base substitution G A upstream_gene_variant MELA-AU 10 97117598 97117598 single base substitution G A intron_variant MELA-AU 10 97117598 97117598 single base substitution G A upstream_gene_variant MELA-AU 10 97117708 97117708 single base substitution C T intron_variant MELA-AU 10 97117708 97117708 single base substitution C T upstream_gene_variant MELA-AU 10 97118142 97118142 single base substitution G A intron_variant MELA-AU 10 97118142 97118142 single base substitution G A upstream_gene_variant MELA-AU 10 97118843 97118843 single base substitution G A intron_variant MELA-AU 10 97118843 97118843 single base substitution G A upstream_gene_variant MELA-AU 10 97119118 97119118 single base substitution G A intron_variant MELA-AU 10 97119118 97119118 single base substitution G A upstream_gene_variant MELA-AU 10 97119478 97119478 single base substitution G A intron_variant MELA-AU 10 97119478 97119478 single base substitution G A upstream_gene_variant MELA-AU 10 97119824 97119824 single base substitution C T intron_variant MELA-AU 10 97119824 97119824 single base substitution C T upstream_gene_variant MELA-AU 10 97120692 97120692 single base substitution T C intron_variant MELA-AU 10 97120692 97120692 single base substitution T C upstream_gene_variant MELA-AU 10 97121251 97121251 single base substitution G A intron_variant MELA-AU 10 97121294 97121294 single base substitution C T intron_variant MELA-AU 10 97121882 97121882 single base substitution G A intron_variant MELA-AU 10 97122742 97122742 single base substitution G A intron_variant MELA-AU 10 97123915 97123915 single base substitution G A intron_variant MELA-AU 10 97124096 97124097 deletion of <=200bp CA - intron_variant MELA-AU 10 97125058 97125058 single base substitution G A intron_variant MELA-AU 10 97125290 97125290 single base substitution G A intron_variant MELA-AU 10 97125390 97125390 single base substitution G A intron_variant MELA-AU 10 97125680 97125680 single base substitution C T intron_variant MELA-AU 10 97126504 97126504 single base substitution G A intron_variant MELA-AU 10 97126772 97126772 single base substitution C T intron_variant MELA-AU 10 97127679 97127679 single base substitution C T intron_variant MELA-AU 10 97129594 97129594 single base substitution G A intron_variant MELA-AU 10 97130405 97130405 single base substitution G A intron_variant MELA-AU 10 97130630 97130630 single base substitution G A intron_variant MELA-AU 10 97130771 97130771 single base substitution G A intron_variant MELA-AU 10 97130803 97130803 single base substitution G A intron_variant MELA-AU 10 97131051 97131051 single base substitution G A intron_variant MELA-AU 10 97131229 97131229 single base substitution G A intron_variant MELA-AU 10 97131236 97131236 single base substitution G A intron_variant MELA-AU 10 97131923 97131923 single base substitution G A intron_variant MELA-AU 10 97132775 97132775 single base substitution G A intron_variant MELA-AU 10 97133338 97133338 single base substitution G A intron_variant MELA-AU 10 97133744 97133744 single base substitution G A intron_variant MELA-AU 10 97133957 97133957 single base substitution T C intron_variant MELA-AU 10 97134184 97134184 single base substitution C T intron_variant MELA-AU 10 97135044 97135045 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 97135109 97135109 single base substitution G A intron_variant MELA-AU 10 97135757 97135757 single base substitution G A intron_variant MELA-AU 10 97135757 97135757 single base substitution G A synonymous_variant F359F 1077C>T MELA-AU 10 97135757 97135757 single base substitution G A synonymous_variant F369F 1107C>T MELA-AU 10 97135757 97135757 single base substitution G A synonymous_variant F438F 1314C>T MELA-AU 10 97135757 97135757 single base substitution G A synonymous_variant F455F 1365C>T MELA-AU 10 97135757 97135757 single base substitution G A synonymous_variant F524F 1572C>T MELA-AU 10 97135757 97135757 single base substitution G A synonymous_variant F540F 1620C>T MELA-AU 10 97135757 97135757 single base substitution G A synonymous_variant F570F 1710C>T MELA-AU 10 97135757 97135757 single base substitution G A synonymous_variant F592F 1776C>T MELA-AU 10 97135821 97135821 single base substitution G A intron_variant MELA-AU 10 97135821 97135821 single base substitution G A splice_region_variant MELA-AU 10 97135853 97135853 single base substitution G A intron_variant MELA-AU 10 97135879 97135879 single base substitution G A intron_variant MELA-AU 10 97136004 97136004 single base substitution G A intron_variant MELA-AU 10 97136486 97136486 single base substitution G A downstream_gene_variant MELA-AU 10 97136486 97136486 single base substitution G A intron_variant MELA-AU 10 97137247 97137247 single base substitution G A downstream_gene_variant MELA-AU 10 97137247 97137247 single base substitution G A intron_variant MELA-AU 10 97138383 97138383 single base substitution G A downstream_gene_variant MELA-AU 10 97138383 97138383 single base substitution G A intron_variant MELA-AU 10 97138604 97138604 single base substitution G A downstream_gene_variant MELA-AU 10 97138604 97138604 single base substitution G A intron_variant MELA-AU 10 97139647 97139647 single base substitution G A downstream_gene_variant MELA-AU 10 97139647 97139647 single base substitution G A intron_variant MELA-AU 10 97139677 97139677 single base substitution G A downstream_gene_variant MELA-AU 10 97139677 97139677 single base substitution G A intron_variant MELA-AU 10 97140543 97140543 single base substitution G A downstream_gene_variant MELA-AU 10 97140543 97140543 single base substitution G A intron_variant MELA-AU 10 97141357 97141357 single base substitution G C downstream_gene_variant MELA-AU 10 97141357 97141357 single base substitution G C exon_variant MELA-AU 10 97141357 97141357 single base substitution G C intron_variant MELA-AU 10 97143234 97143234 single base substitution G A downstream_gene_variant MELA-AU 10 97143234 97143234 single base substitution G A intron_variant MELA-AU 10 97143848 97143848 single base substitution G A exon_variant MELA-AU 10 97143848 97143848 single base substitution G A missense_variant R267C 799C>T MELA-AU 10 97143848 97143848 single base substitution G A missense_variant R268C 802C>T MELA-AU 10 97143848 97143848 single base substitution G A missense_variant R277C 829C>T MELA-AU 10 97143848 97143848 single base substitution G A missense_variant R309C 925C>T MELA-AU 10 97143848 97143848 single base substitution G A missense_variant R346C 1036C>T MELA-AU 10 97143848 97143848 single base substitution G A missense_variant R363C 1087C>T MELA-AU 10 97143848 97143848 single base substitution G A missense_variant R400C 1198C>T MELA-AU 10 97143848 97143848 single base substitution G A missense_variant R432C 1294C>T MELA-AU 10 97143848 97143848 single base substitution G A missense_variant R448C 1342C>T MELA-AU 10 97143848 97143848 single base substitution G A missense_variant R478C 1432C>T MELA-AU 10 97143848 97143848 single base substitution G A missense_variant R500C 1498C>T MELA-AU 10 97144018 97144018 single base substitution G A exon_variant MELA-AU 10 97144018 97144018 single base substitution G A missense_variant P251L 752C>T MELA-AU 10 97144018 97144018 single base substitution G A missense_variant P252L 755C>T MELA-AU 10 97144018 97144018 single base substitution G A missense_variant P261L 782C>T MELA-AU 10 97144018 97144018 single base substitution G A missense_variant P293L 878C>T MELA-AU 10 97144018 97144018 single base substitution G A missense_variant P330L 989C>T MELA-AU 10 97144018 97144018 single base substitution G A missense_variant P347L 1040C>T MELA-AU 10 97144018 97144018 single base substitution G A missense_variant P384L 1151C>T MELA-AU 10 97144018 97144018 single base substitution G A missense_variant P416L 1247C>T MELA-AU 10 97144018 97144018 single base substitution G A missense_variant P432L 1295C>T MELA-AU 10 97144018 97144018 single base substitution G A missense_variant P462L 1385C>T MELA-AU 10 97144018 97144018 single base substitution G A missense_variant P484L 1451C>T MELA-AU 10 97144085 97144085 single base substitution G A intron_variant MELA-AU 10 97144085 97144085 single base substitution G A upstream_gene_variant MELA-AU 10 97144214 97144214 single base substitution A T intron_variant MELA-AU 10 97144214 97144214 single base substitution A T upstream_gene_variant MELA-AU 10 97144595 97144595 single base substitution G A intron_variant MELA-AU 10 97144595 97144595 single base substitution G A upstream_gene_variant MELA-AU 10 97145503 97145503 single base substitution G A intron_variant MELA-AU 10 97145503 97145503 single base substitution G A upstream_gene_variant MELA-AU 10 97145628 97145628 single base substitution A T intron_variant MELA-AU 10 97145628 97145628 single base substitution A T upstream_gene_variant MELA-AU 10 97146251 97146252 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 97146251 97146252 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 10 97146286 97146287 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 97146286 97146287 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 10 97148960 97148960 single base substitution G A intron_variant MELA-AU 10 97148960 97148960 single base substitution G A upstream_gene_variant MELA-AU 10 97149680 97149680 single base substitution G C intron_variant MELA-AU 10 97149944 97149944 single base substitution C A intron_variant MELA-AU 10 97151150 97151150 single base substitution G A intron_variant MELA-AU 10 97151350 97151350 single base substitution C T intron_variant MELA-AU 10 97151950 97151950 single base substitution C T intron_variant MELA-AU 10 97152647 97152647 single base substitution G A intron_variant MELA-AU 10 97152684 97152684 single base substitution G A intron_variant MELA-AU 10 97153046 97153046 single base substitution C T intron_variant MELA-AU 10 97154310 97154310 single base substitution G A downstream_gene_variant MELA-AU 10 97154310 97154310 single base substitution G A intron_variant MELA-AU 10 97154342 97154342 single base substitution G A downstream_gene_variant MELA-AU 10 97154342 97154342 single base substitution G A intron_variant MELA-AU 10 97154452 97154452 single base substitution G A downstream_gene_variant MELA-AU 10 97154452 97154452 single base substitution G A intron_variant MELA-AU 10 97154763 97154763 single base substitution G A downstream_gene_variant MELA-AU 10 97154763 97154763 single base substitution G A intron_variant MELA-AU 10 97154763 97154763 single base substitution G A missense_variant S299F 896C>T MELA-AU 10 97154763 97154763 single base substitution G A missense_variant S422F 1265C>T MELA-AU 10 97154763 97154763 single base substitution G A missense_variant S431F 1292C>T MELA-AU 10 97155347 97155347 single base substitution A T downstream_gene_variant MELA-AU 10 97155347 97155347 single base substitution A T intron_variant MELA-AU 10 97155601 97155601 single base substitution G A downstream_gene_variant MELA-AU 10 97155601 97155601 single base substitution G A intron_variant MELA-AU 10 97155794 97155794 single base substitution G A downstream_gene_variant MELA-AU 10 97155794 97155794 single base substitution G A intron_variant MELA-AU 10 97156100 97156100 single base substitution G A downstream_gene_variant MELA-AU 10 97156100 97156100 single base substitution G A intron_variant MELA-AU 10 97156446 97156446 single base substitution G A downstream_gene_variant MELA-AU 10 97156446 97156446 single base substitution G A intron_variant MELA-AU 10 97156526 97156526 single base substitution G A downstream_gene_variant MELA-AU 10 97156526 97156526 single base substitution G A intron_variant MELA-AU 10 97157290 97157290 single base substitution G T downstream_gene_variant MELA-AU 10 97157290 97157290 single base substitution G T intron_variant MELA-AU 10 97157592 97157592 single base substitution G A downstream_gene_variant MELA-AU 10 97157592 97157592 single base substitution G A intron_variant MELA-AU 10 97157626 97157626 single base substitution C T downstream_gene_variant MELA-AU 10 97157626 97157626 single base substitution C T intron_variant MELA-AU 10 97157821 97157821 single base substitution C A downstream_gene_variant MELA-AU 10 97157821 97157821 single base substitution C A intron_variant MELA-AU 10 97158751 97158751 single base substitution G A downstream_gene_variant MELA-AU 10 97158751 97158751 single base substitution G A intron_variant MELA-AU 10 97158880 97158880 single base substitution G A exon_variant MELA-AU 10 97158880 97158880 single base substitution G A missense_variant P156L 467C>T MELA-AU 10 97158880 97158880 single base substitution G A missense_variant P186L 557C>T MELA-AU 10 97158880 97158880 single base substitution G A missense_variant P187L 560C>T MELA-AU 10 97158880 97158880 single base substitution G A missense_variant P196L 587C>T MELA-AU 10 97158880 97158880 single base substitution G A missense_variant P219L 656C>T MELA-AU 10 97158880 97158880 single base substitution G A missense_variant P228L 683C>T MELA-AU 10 97158880 97158880 single base substitution G A missense_variant P282L 845C>T MELA-AU 10 97158880 97158880 single base substitution G A missense_variant P319L 956C>T MELA-AU 10 97158880 97158880 single base substitution G A missense_variant P342L 1025C>T MELA-AU 10 97158880 97158880 single base substitution G A missense_variant P351L 1052C>T MELA-AU 10 97158885 97158885 single base substitution G A exon_variant MELA-AU 10 97158885 97158885 single base substitution G A synonymous_variant T154T 462C>T MELA-AU 10 97158885 97158885 single base substitution G A synonymous_variant T184T 552C>T MELA-AU 10 97158885 97158885 single base substitution G A synonymous_variant T185T 555C>T MELA-AU 10 97158885 97158885 single base substitution G A synonymous_variant T194T 582C>T MELA-AU 10 97158885 97158885 single base substitution G A synonymous_variant T217T 651C>T MELA-AU 10 97158885 97158885 single base substitution G A synonymous_variant T226T 678C>T MELA-AU 10 97158885 97158885 single base substitution G A synonymous_variant T280T 840C>T MELA-AU 10 97158885 97158885 single base substitution G A synonymous_variant T317T 951C>T MELA-AU 10 97158885 97158885 single base substitution G A synonymous_variant T340T 1020C>T MELA-AU 10 97158885 97158885 single base substitution G A synonymous_variant T349T 1047C>T MELA-AU 10 97158969 97158969 single base substitution A G intron_variant MELA-AU 10 97160171 97160171 single base substitution G A intron_variant MELA-AU 10 97160693 97160693 single base substitution T C intron_variant MELA-AU 10 97160799 97160799 single base substitution G A intron_variant MELA-AU 10 97160959 97160959 single base substitution G A intron_variant MELA-AU 10 97161014 97161014 single base substitution C T intron_variant MELA-AU 10 97162031 97162031 single base substitution G A intron_variant MELA-AU 10 97162439 97162439 single base substitution G A intron_variant MELA-AU 10 97162492 97162492 single base substitution G A intron_variant MELA-AU 10 97162727 97162727 single base substitution G T intron_variant MELA-AU 10 97163089 97163089 single base substitution G A intron_variant MELA-AU 10 97164065 97164065 single base substitution A G intron_variant MELA-AU 10 97164401 97164402 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 10 97164457 97164457 single base substitution A G intron_variant MELA-AU 10 97164491 97164491 single base substitution A G intron_variant MELA-AU 10 97164897 97164897 single base substitution A T intron_variant MELA-AU 10 97165909 97165909 single base substitution G A intron_variant MELA-AU 10 97165909 97165909 single base substitution G A splice_region_variant MELA-AU 10 97166482 97166482 single base substitution C T intron_variant MELA-AU 10 97166840 97166840 single base substitution G A intron_variant MELA-AU 10 97167379 97167379 insertion of <=200bp - AAAT intron_variant MELA-AU 10 97167474 97167474 single base substitution T C intron_variant MELA-AU 10 97168176 97168176 single base substitution G A intron_variant MELA-AU 10 97168558 97168558 single base substitution C T intron_variant MELA-AU 10 97169322 97169322 single base substitution G A intron_variant MELA-AU 10 97169624 97169624 single base substitution G A downstream_gene_variant MELA-AU 10 97169624 97169624 single base substitution G A intron_variant MELA-AU 10 97169652 97169652 single base substitution G A downstream_gene_variant MELA-AU 10 97169652 97169652 single base substitution G A intron_variant MELA-AU 10 97170053 97170053 single base substitution G A downstream_gene_variant MELA-AU 10 97170053 97170053 single base substitution G A intron_variant MELA-AU 10 97170604 97170604 single base substitution G A downstream_gene_variant MELA-AU 10 97170604 97170604 single base substitution G A intron_variant MELA-AU 10 97170887 97170887 single base substitution G A downstream_gene_variant MELA-AU 10 97170887 97170887 single base substitution G A intron_variant MELA-AU 10 97172562 97172562 single base substitution G A downstream_gene_variant MELA-AU 10 97172562 97172562 single base substitution G A intron_variant MELA-AU 10 97173126 97173126 single base substitution C T downstream_gene_variant MELA-AU 10 97173126 97173126 single base substitution C T intron_variant MELA-AU 10 97173456 97173456 single base substitution G A downstream_gene_variant MELA-AU 10 97173456 97173456 single base substitution G A exon_variant MELA-AU 10 97173456 97173456 single base substitution G A intron_variant MELA-AU 10 97173717 97173717 single base substitution C A downstream_gene_variant MELA-AU 10 97173717 97173717 single base substitution C A intron_variant MELA-AU 10 97173717 97173717 single base substitution C A upstream_gene_variant MELA-AU 10 97174447 97174447 single base substitution G A downstream_gene_variant MELA-AU 10 97174447 97174447 single base substitution G A exon_variant MELA-AU 10 97174447 97174447 single base substitution G A intron_variant MELA-AU 10 97174447 97174447 single base substitution G A missense_variant P173L 518C>T MELA-AU 10 97174447 97174447 single base substitution G A missense_variant P196L 587C>T MELA-AU 10 97174447 97174447 single base substitution G A missense_variant P205L 614C>T MELA-AU 10 97174447 97174447 single base substitution G A upstream_gene_variant MELA-AU 10 97174485 97174485 single base substitution G A downstream_gene_variant MELA-AU 10 97174485 97174485 single base substitution G A exon_variant MELA-AU 10 97174485 97174485 single base substitution G A intron_variant MELA-AU 10 97174485 97174485 single base substitution G A synonymous_variant I160I 480C>T MELA-AU 10 97174485 97174485 single base substitution G A synonymous_variant I183I 549C>T MELA-AU 10 97174485 97174485 single base substitution G A synonymous_variant I192I 576C>T MELA-AU 10 97174485 97174485 single base substitution G A upstream_gene_variant MELA-AU 10 97174869 97174869 single base substitution G A intron_variant MELA-AU 10 97174869 97174869 single base substitution G A upstream_gene_variant MELA-AU 10 97175623 97175623 single base substitution C T exon_variant MELA-AU 10 97175623 97175623 single base substitution C T intron_variant MELA-AU 10 97175623 97175623 single base substitution C T upstream_gene_variant MELA-AU 10 97176083 97176083 single base substitution C T intron_variant MELA-AU 10 97176083 97176083 single base substitution C T upstream_gene_variant MELA-AU 10 97177797 97177799 multiple base substitution (>=2bp and <=200bp) GGG AAT intron_variant MELA-AU 10 97177797 97177799 multiple base substitution (>=2bp and <=200bp) GGG AAT upstream_gene_variant MELA-AU 10 97178105 97178105 single base substitution G A intron_variant MELA-AU 10 97178105 97178105 single base substitution G A upstream_gene_variant MELA-AU 10 97178237 97178237 single base substitution G A intron_variant MELA-AU 10 97178237 97178237 single base substitution G A upstream_gene_variant MELA-AU 10 97178667 97178667 single base substitution G A intron_variant MELA-AU 10 97178667 97178667 single base substitution G A upstream_gene_variant MELA-AU 10 97179855 97179855 single base substitution G T intron_variant MELA-AU 10 97179855 97179855 single base substitution G T upstream_gene_variant MELA-AU 10 97179951 97179951 single base substitution A G intron_variant MELA-AU 10 97179951 97179951 single base substitution A G upstream_gene_variant MELA-AU 10 97184973 97184973 single base substitution G T intron_variant MELA-AU 10 97185294 97185294 single base substitution G A intron_variant MELA-AU 10 97185801 97185801 single base substitution C T intron_variant MELA-AU 10 97185862 97185862 single base substitution C T intron_variant MELA-AU 10 97185866 97185866 single base substitution T A intron_variant MELA-AU 10 97187190 97187190 single base substitution G A intron_variant MELA-AU 10 97187192 97187192 single base substitution G A intron_variant MELA-AU 10 97187395 97187395 single base substitution C T intron_variant MELA-AU 10 97188648 97188648 single base substitution A G intron_variant MELA-AU 10 97188998 97188998 single base substitution A G intron_variant MELA-AU 10 97189991 97189991 single base substitution G A intron_variant MELA-AU 10 97189992 97189992 single base substitution G T intron_variant MELA-AU 10 97190030 97190030 single base substitution A G intron_variant MELA-AU 10 97190228 97190228 single base substitution A C intron_variant MELA-AU 10 97190322 97190322 single base substitution G A intron_variant MELA-AU 10 97190323 97190323 single base substitution G A intron_variant MELA-AU 10 97190686 97190686 single base substitution C T intron_variant MELA-AU 10 97191088 97191088 single base substitution G A intron_variant MELA-AU 10 97191192 97191192 single base substitution G A intron_variant MELA-AU 10 97192232 97192232 single base substitution C T exon_variant MELA-AU 10 97192232 97192232 single base substitution C T missense_variant E60K 178G>A MELA-AU 10 97192232 97192232 single base substitution C T missense_variant E92K 274G>A MELA-AU 10 97193092 97193093 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 97193365 97193365 single base substitution A T intron_variant MELA-AU 10 97193424 97193424 single base substitution C T intron_variant MELA-AU 10 97193647 97193647 single base substitution G A intron_variant MELA-AU 10 97193675 97193675 single base substitution G A intron_variant MELA-AU 10 97194321 97194321 single base substitution G A intron_variant MELA-AU 10 97194372 97194372 single base substitution G A intron_variant MELA-AU 10 97194372 97194372 single base substitution G A splice_region_variant MELA-AU 10 97194900 97194900 single base substitution G A intron_variant MELA-AU 10 97194925 97194925 single base substitution C T intron_variant MELA-AU 10 97195241 97195241 single base substitution G A intron_variant MELA-AU 10 97195509 97195509 single base substitution G A intron_variant MELA-AU 10 97195795 97195795 single base substitution C T intron_variant MELA-AU 10 97197379 97197379 single base substitution G A intron_variant MELA-AU 10 97197527 97197527 single base substitution G A intron_variant MELA-AU 10 97197672 97197672 single base substitution G A intron_variant MELA-AU 10 97198501 97198501 single base substitution C T intron_variant MELA-AU 10 97198699 97198699 single base substitution C T intron_variant MELA-AU 10 97199588 97199588 single base substitution G A intron_variant MELA-AU 10 97199812 97199812 single base substitution G A intron_variant MELA-AU 10 97200075 97200075 single base substitution G A intron_variant MELA-AU 10 97200249 97200249 single base substitution G A intron_variant MELA-AU 10 97201354 97201354 single base substitution G A intron_variant MELA-AU 10 97201354 97201354 single base substitution G A upstream_gene_variant MELA-AU 10 97201569 97201569 single base substitution G C intron_variant MELA-AU 10 97201569 97201569 single base substitution G C upstream_gene_variant MELA-AU 10 97201857 97201857 single base substitution G A intron_variant MELA-AU 10 97201857 97201857 single base substitution G A upstream_gene_variant MELA-AU 10 97201967 97201967 single base substitution G A intron_variant MELA-AU 10 97201967 97201967 single base substitution G A upstream_gene_variant MELA-AU 10 97202269 97202269 single base substitution G A intron_variant MELA-AU 10 97202269 97202269 single base substitution G A upstream_gene_variant MELA-AU 10 97202545 97202545 single base substitution C T intron_variant MELA-AU 10 97202545 97202545 single base substitution C T upstream_gene_variant MELA-AU 10 97202684 97202684 single base substitution A G intron_variant MELA-AU 10 97202684 97202684 single base substitution A G upstream_gene_variant MELA-AU 10 97202719 97202719 single base substitution G T intron_variant MELA-AU 10 97202719 97202719 single base substitution G T upstream_gene_variant MELA-AU 10 97202734 97202734 single base substitution C T intron_variant MELA-AU 10 97202734 97202734 single base substitution C T upstream_gene_variant MELA-AU 10 97202986 97202986 single base substitution G A intron_variant MELA-AU 10 97202986 97202986 single base substitution G A upstream_gene_variant MELA-AU 10 97203750 97203750 single base substitution C T intron_variant MELA-AU 10 97203750 97203750 single base substitution C T upstream_gene_variant MELA-AU 10 97204767 97204767 single base substitution G A intron_variant MELA-AU 10 97204767 97204767 single base substitution G A upstream_gene_variant MELA-AU 10 97204997 97204997 single base substitution G A intron_variant MELA-AU 10 97204997 97204997 single base substitution G A upstream_gene_variant MELA-AU 10 97205367 97205367 single base substitution G A intron_variant MELA-AU 10 97205367 97205367 single base substitution G A upstream_gene_variant MELA-AU 10 97205394 97205394 single base substitution G A intron_variant MELA-AU 10 97205394 97205394 single base substitution G A upstream_gene_variant MELA-AU 10 97205485 97205485 single base substitution G A intron_variant MELA-AU 10 97205485 97205485 single base substitution G A upstream_gene_variant MELA-AU 10 97206201 97206201 single base substitution G A intron_variant MELA-AU 10 97206292 97206292 single base substitution T C intron_variant MELA-AU 10 97206539 97206539 single base substitution C T intron_variant MELA-AU 10 97209103 97209103 single base substitution C T intron_variant MELA-AU 10 97211374 97211374 single base substitution G A intron_variant MELA-AU 10 97211481 97211481 single base substitution A G intron_variant MELA-AU 10 97211529 97211529 single base substitution T G intron_variant MELA-AU 10 97211833 97211833 single base substitution G A intron_variant MELA-AU 10 97212281 97212281 single base substitution C T intron_variant MELA-AU 10 97213321 97213321 single base substitution C T intron_variant MELA-AU 10 97213703 97213703 single base substitution G A intron_variant MELA-AU 10 97214580 97214580 single base substitution G A intron_variant MELA-AU 10 97215388 97215388 single base substitution G A intron_variant MELA-AU 10 97215771 97215771 single base substitution C T intron_variant MELA-AU 10 97217548 97217548 single base substitution C A intron_variant MELA-AU 10 97219586 97219586 single base substitution G A intron_variant MELA-AU 10 97220880 97220880 single base substitution A G intron_variant MELA-AU 10 97221977 97221977 single base substitution C T intron_variant MELA-AU 10 97222040 97222040 single base substitution C T intron_variant MELA-AU 10 97222545 97222545 single base substitution G A intron_variant MELA-AU 10 97222880 97222880 single base substitution C T intron_variant MELA-AU 10 97223459 97223459 single base substitution G A intron_variant MELA-AU 10 97224064 97224064 single base substitution A T intron_variant MELA-AU 10 97224406 97224406 single base substitution G A intron_variant MELA-AU 10 97224409 97224409 single base substitution G A intron_variant MELA-AU 10 97224679 97224679 single base substitution G A intron_variant MELA-AU 10 97227723 97227723 single base substitution C T intron_variant MELA-AU 10 97228925 97228925 single base substitution C T intron_variant MELA-AU 10 97229273 97229273 single base substitution C T intron_variant MELA-AU 10 97229288 97229288 single base substitution G A intron_variant MELA-AU 10 97229639 97229639 single base substitution G A intron_variant MELA-AU 10 97229885 97229885 single base substitution C G intron_variant MELA-AU 10 97230787 97230787 single base substitution G A intron_variant MELA-AU 10 97231149 97231149 single base substitution G A intron_variant MELA-AU 10 97231558 97231558 single base substitution G A intron_variant MELA-AU 10 97231650 97231650 single base substitution G A intron_variant MELA-AU 10 97231730 97231730 single base substitution G A intron_variant MELA-AU 10 97232209 97232209 single base substitution C T intron_variant MELA-AU 10 97232395 97232395 single base substitution C T intron_variant MELA-AU 10 97232546 97232546 single base substitution C T intron_variant MELA-AU 10 97232774 97232774 single base substitution A G intron_variant MELA-AU 10 97234288 97234288 single base substitution A T intron_variant MELA-AU 10 97235209 97235209 single base substitution G A intron_variant MELA-AU 10 97235680 97235680 single base substitution G A intron_variant MELA-AU 10 97236797 97236798 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 97237625 97237625 insertion of <=200bp - AA intron_variant MELA-AU 10 97238245 97238245 single base substitution G A intron_variant MELA-AU 10 97238723 97238723 single base substitution G A intron_variant MELA-AU 10 97239473 97239473 single base substitution C T intron_variant MELA-AU 10 97239581 97239581 single base substitution G A intron_variant MELA-AU 10 97239802 97239802 single base substitution G A intron_variant MELA-AU 10 97241258 97241258 single base substitution C T intron_variant MELA-AU 10 97242563 97242563 single base substitution G A intron_variant MELA-AU 10 97242563 97242563 single base substitution G A upstream_gene_variant MELA-AU 10 97242710 97242710 single base substitution C T intron_variant MELA-AU 10 97242710 97242710 single base substitution C T upstream_gene_variant MELA-AU 10 97243008 97243008 single base substitution G A intron_variant MELA-AU 10 97243008 97243008 single base substitution G A upstream_gene_variant MELA-AU 10 97243127 97243127 single base substitution A C intron_variant MELA-AU 10 97243127 97243127 single base substitution A C upstream_gene_variant MELA-AU 10 97243161 97243161 single base substitution G A intron_variant MELA-AU 10 97243161 97243161 single base substitution G A upstream_gene_variant MELA-AU 10 97243673 97243673 single base substitution C T intron_variant MELA-AU 10 97243673 97243673 single base substitution C T upstream_gene_variant MELA-AU 10 97244046 97244046 single base substitution G A intron_variant MELA-AU 10 97244046 97244046 single base substitution G A upstream_gene_variant MELA-AU 10 97244376 97244376 single base substitution G A intron_variant MELA-AU 10 97244376 97244376 single base substitution G A upstream_gene_variant MELA-AU 10 97244456 97244456 single base substitution C T intron_variant MELA-AU 10 97244456 97244456 single base substitution C T upstream_gene_variant MELA-AU 10 97244817 97244817 single base substitution C T intron_variant MELA-AU 10 97244817 97244817 single base substitution C T upstream_gene_variant MELA-AU 10 97246490 97246490 single base substitution G A downstream_gene_variant MELA-AU 10 97246490 97246490 single base substitution G A intron_variant MELA-AU 10 97246490 97246490 single base substitution G A upstream_gene_variant MELA-AU 10 97246784 97246784 single base substitution G A downstream_gene_variant MELA-AU 10 97246784 97246784 single base substitution G A intron_variant MELA-AU 10 97246784 97246784 single base substitution G A upstream_gene_variant MELA-AU 10 97246798 97246798 single base substitution C T downstream_gene_variant MELA-AU 10 97246798 97246798 single base substitution C T intron_variant MELA-AU 10 97246798 97246798 single base substitution C T upstream_gene_variant MELA-AU 10 97247313 97247313 single base substitution C T downstream_gene_variant MELA-AU 10 97247313 97247313 single base substitution C T intron_variant MELA-AU 10 97247313 97247313 single base substitution C T upstream_gene_variant MELA-AU 10 97248419 97248419 single base substitution G A downstream_gene_variant MELA-AU 10 97248419 97248419 single base substitution G A intron_variant MELA-AU 10 97248735 97248735 single base substitution G A downstream_gene_variant MELA-AU 10 97248735 97248735 single base substitution G A intron_variant MELA-AU 10 97249013 97249013 single base substitution C T downstream_gene_variant MELA-AU 10 97249013 97249013 single base substitution C T intron_variant MELA-AU 10 97249376 97249376 single base substitution G A downstream_gene_variant MELA-AU 10 97249376 97249376 single base substitution G A intron_variant MELA-AU 10 97250060 97250060 single base substitution G A downstream_gene_variant MELA-AU 10 97250060 97250060 single base substitution G A intron_variant MELA-AU 10 97253026 97253026 single base substitution G A intron_variant MELA-AU 10 97253026 97253026 single base substitution G A upstream_gene_variant MELA-AU 10 97253409 97253409 single base substitution G A intron_variant MELA-AU 10 97253409 97253409 single base substitution G A upstream_gene_variant MELA-AU 10 97254078 97254078 single base substitution C T intron_variant MELA-AU 10 97254078 97254078 single base substitution C T upstream_gene_variant MELA-AU 10 97254545 97254545 single base substitution G A intron_variant MELA-AU 10 97254545 97254545 single base substitution G A upstream_gene_variant MELA-AU 10 97255429 97255429 single base substitution C T intron_variant MELA-AU 10 97255429 97255429 single base substitution C T upstream_gene_variant MELA-AU 10 97255595 97255595 single base substitution G A intron_variant MELA-AU 10 97255595 97255595 single base substitution G A upstream_gene_variant MELA-AU 10 97255872 97255872 single base substitution G A intron_variant MELA-AU 10 97255872 97255872 single base substitution G A upstream_gene_variant MELA-AU 10 97256597 97256597 single base substitution G A intron_variant MELA-AU 10 97256597 97256597 single base substitution G A upstream_gene_variant MELA-AU 10 97256624 97256624 single base substitution A G intron_variant MELA-AU 10 97256624 97256624 single base substitution A G upstream_gene_variant MELA-AU 10 97256955 97256955 single base substitution G A intron_variant MELA-AU 10 97256955 97256955 single base substitution G A upstream_gene_variant MELA-AU 10 97257530 97257530 single base substitution C T intron_variant MELA-AU 10 97257530 97257530 single base substitution C T upstream_gene_variant MELA-AU 10 97257823 97257823 single base substitution A C intron_variant MELA-AU 10 97257823 97257823 single base substitution A C upstream_gene_variant MELA-AU 10 97258151 97258151 single base substitution C A intron_variant MELA-AU 10 97258349 97258349 single base substitution G A intron_variant MELA-AU 10 97258572 97258573 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 97259111 97259111 single base substitution G A intron_variant MELA-AU 10 97259824 97259824 single base substitution G A intron_variant MELA-AU 10 97260056 97260056 single base substitution C T intron_variant MELA-AU 10 97260122 97260122 single base substitution G A intron_variant MELA-AU 10 97260257 97260257 single base substitution G A intron_variant MELA-AU 10 97260949 97260949 single base substitution G A intron_variant MELA-AU 10 97260957 97260957 single base substitution G A intron_variant MELA-AU 10 97261187 97261187 single base substitution C T intron_variant MELA-AU 10 97261477 97261477 single base substitution G A intron_variant MELA-AU 10 97263480 97263480 single base substitution G A intron_variant MELA-AU 10 97263583 97263583 single base substitution G A intron_variant MELA-AU 10 97264439 97264439 single base substitution G A intron_variant MELA-AU 10 97264799 97264799 single base substitution G A intron_variant MELA-AU 10 97264947 97264947 single base substitution C T intron_variant MELA-AU 10 97265020 97265020 single base substitution C T intron_variant MELA-AU 10 97266709 97266709 single base substitution C T intron_variant MELA-AU 10 97266859 97266859 single base substitution C T intron_variant MELA-AU 10 97267045 97267045 single base substitution G A intron_variant MELA-AU 10 97267086 97267086 single base substitution G A intron_variant MELA-AU 10 97267466 97267466 single base substitution C T intron_variant MELA-AU 10 97267884 97267884 single base substitution G T intron_variant MELA-AU 10 97268068 97268068 single base substitution T A intron_variant MELA-AU 10 97269551 97269551 single base substitution A T intron_variant MELA-AU 10 97269705 97269705 single base substitution A G intron_variant MELA-AU 10 97269941 97269941 single base substitution A G intron_variant MELA-AU 10 97270529 97270529 single base substitution G A intron_variant MELA-AU 10 97270809 97270809 single base substitution G C intron_variant MELA-AU 10 97271738 97271738 single base substitution G A intron_variant MELA-AU 10 97272214 97272214 single base substitution G A intron_variant MELA-AU 10 97272570 97272570 single base substitution G A intron_variant MELA-AU 10 97272843 97272843 single base substitution G C intron_variant MELA-AU 10 97274846 97274846 single base substitution G A intron_variant MELA-AU 10 97275333 97275333 single base substitution T G intron_variant MELA-AU 10 97275698 97275698 single base substitution G A intron_variant MELA-AU 10 97275795 97275795 single base substitution G A intron_variant MELA-AU 10 97276003 97276003 single base substitution G A intron_variant MELA-AU 10 97276678 97276678 single base substitution G A intron_variant MELA-AU 10 97276682 97276682 single base substitution T C intron_variant MELA-AU 10 97277004 97277004 single base substitution G A intron_variant MELA-AU 10 97279788 97279788 single base substitution G A intron_variant MELA-AU 10 97280039 97280039 single base substitution C T intron_variant MELA-AU 10 97280324 97280324 single base substitution G A intron_variant MELA-AU 10 97281153 97281153 single base substitution A C intron_variant MELA-AU 10 97281309 97281309 single base substitution G A intron_variant MELA-AU 10 97281313 97281313 single base substitution T G intron_variant MELA-AU 10 97282168 97282168 single base substitution C T intron_variant MELA-AU 10 97282258 97282258 single base substitution C T intron_variant MELA-AU 10 97282779 97282779 single base substitution A G intron_variant MELA-AU 10 97283071 97283071 single base substitution C T intron_variant MELA-AU 10 97285464 97285464 single base substitution G A intron_variant MELA-AU 10 97285745 97285745 single base substitution G A intron_variant MELA-AU 10 97286042 97286042 single base substitution G A intron_variant MELA-AU 10 97286154 97286154 single base substitution G A intron_variant MELA-AU 10 97286370 97286370 single base substitution C T intron_variant MELA-AU 10 97287423 97287423 single base substitution G A intron_variant MELA-AU 10 97287644 97287644 single base substitution C T intron_variant MELA-AU 10 97287712 97287712 single base substitution G A intron_variant MELA-AU 10 97288308 97288308 single base substitution G A intron_variant MELA-AU 10 97288444 97288444 single base substitution G A intron_variant MELA-AU 10 97288468 97288468 single base substitution G A intron_variant MELA-AU 10 97289033 97289033 single base substitution C T intron_variant MELA-AU 10 97289886 97289886 single base substitution G A intron_variant MELA-AU 10 97290218 97290218 single base substitution G A intron_variant MELA-AU 10 97290226 97290226 single base substitution G A intron_variant MELA-AU 10 97290245 97290245 single base substitution C T intron_variant MELA-AU 10 97291163 97291163 single base substitution C A intron_variant MELA-AU 10 97291813 97291813 single base substitution G A intron_variant MELA-AU 10 97292265 97292265 single base substitution G A intron_variant MELA-AU 10 97293840 97293840 single base substitution C T intron_variant MELA-AU 10 97293926 97293926 single base substitution T C intron_variant MELA-AU 10 97294580 97294580 single base substitution T A intron_variant MELA-AU 10 97294584 97294584 single base substitution G A intron_variant MELA-AU 10 97294596 97294596 single base substitution C T intron_variant MELA-AU 10 97294606 97294607 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 97294630 97294630 single base substitution G A intron_variant MELA-AU 10 97294864 97294864 single base substitution G A intron_variant MELA-AU 10 97295416 97295416 single base substitution G A intron_variant MELA-AU 10 97295958 97295958 single base substitution G A intron_variant MELA-AU 10 97296181 97296181 single base substitution G A intron_variant MELA-AU 10 97297632 97297632 single base substitution C T intron_variant MELA-AU 10 97297652 97297652 single base substitution G A intron_variant MELA-AU 10 97298279 97298279 single base substitution G A intron_variant MELA-AU 10 97298561 97298561 single base substitution C T intron_variant MELA-AU 10 97299307 97299307 single base substitution G A intron_variant MELA-AU 10 97299979 97299979 single base substitution A T intron_variant MELA-AU 10 97300343 97300344 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 10 97300595 97300595 single base substitution G A intron_variant MELA-AU 10 97300669 97300669 single base substitution A C intron_variant MELA-AU 10 97300996 97300996 single base substitution C T intron_variant MELA-AU 10 97301889 97301889 single base substitution G A intron_variant MELA-AU 10 97302909 97302909 single base substitution T A intron_variant MELA-AU 10 97303552 97303552 single base substitution G A intron_variant MELA-AU 10 97303800 97303800 single base substitution G A intron_variant MELA-AU 10 97303959 97303959 single base substitution G A intron_variant MELA-AU 10 97304181 97304181 single base substitution G A intron_variant MELA-AU 10 97304229 97304229 single base substitution C G intron_variant MELA-AU 10 97304529 97304529 single base substitution A G intron_variant MELA-AU 10 97306075 97306075 single base substitution T A intron_variant MELA-AU 10 97306360 97306360 single base substitution G A intron_variant MELA-AU 10 97307312 97307312 single base substitution A C intron_variant MELA-AU 10 97307343 97307343 single base substitution A T intron_variant MELA-AU 10 97307791 97307791 single base substitution G A intron_variant MELA-AU 10 97307994 97307994 single base substitution G A intron_variant MELA-AU 10 97308434 97308434 single base substitution G A intron_variant MELA-AU 10 97308508 97308508 single base substitution C T intron_variant MELA-AU 10 97309097 97309097 single base substitution G A intron_variant MELA-AU 10 97309553 97309553 single base substitution C T intron_variant MELA-AU 10 97309822 97309822 single base substitution G A intron_variant MELA-AU 10 97310131 97310131 single base substitution G A intron_variant MELA-AU 10 97310640 97310640 single base substitution G A intron_variant MELA-AU 10 97310767 97310767 single base substitution G A intron_variant MELA-AU 10 97312373 97312373 single base substitution G A intron_variant MELA-AU 10 97312432 97312432 single base substitution G A intron_variant MELA-AU 10 97312540 97312540 single base substitution G A intron_variant MELA-AU 10 97312558 97312559 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 97312629 97312629 single base substitution G A intron_variant MELA-AU 10 97312632 97312632 single base substitution G A intron_variant MELA-AU 10 97312873 97312873 single base substitution G A intron_variant MELA-AU 10 97313375 97313375 single base substitution G A intron_variant MELA-AU 10 97314414 97314414 single base substitution C T intron_variant MELA-AU 10 97314897 97314897 single base substitution C T intron_variant MELA-AU 10 97315298 97315298 single base substitution A C intron_variant MELA-AU 10 97315610 97315610 single base substitution G A intron_variant MELA-AU 10 97316218 97316218 single base substitution C T intron_variant MELA-AU 10 97316869 97316869 single base substitution G A intron_variant MELA-AU 10 97317074 97317074 single base substitution A G intron_variant MELA-AU 10 97317198 97317198 single base substitution G A intron_variant MELA-AU 10 97317344 97317344 single base substitution T A intron_variant MELA-AU 10 97317768 97317768 single base substitution G A intron_variant MELA-AU 10 97318857 97318857 single base substitution C T intron_variant MELA-AU 10 97320411 97320411 single base substitution G A intron_variant MELA-AU 10 97320516 97320516 single base substitution C T intron_variant MELA-AU 10 97321312 97321312 single base substitution G A upstream_gene_variant MELA-AU 10 97321762 97321762 single base substitution G A upstream_gene_variant MELA-AU 10 97322389 97322389 single base substitution A G upstream_gene_variant MELA-AU 10 97323149 97323149 single base substitution G A upstream_gene_variant MELA-AU 10 97323874 97323874 single base substitution G A upstream_gene_variant MELA-AU 10 97323896 97323896 single base substitution A G upstream_gene_variant MELA-AU 10 97324669 97324669 single base substitution G A upstream_gene_variant MELA-AU 10 97325223 97325223 single base substitution C T upstream_gene_variant MELA-AU 10 97325596 97325596 single base substitution A G upstream_gene_variant MELA-AU 10 97325633 97325633 single base substitution C T upstream_gene_variant ORCA-IN 10 97078088 97078088 single base substitution C T missense_variant G1126E 3377G>A ORCA-IN 10 97078088 97078088 single base substitution C T missense_variant G1241E 3722G>A ORCA-IN 10 97078088 97078088 single base substitution C T missense_variant G1267E 3800G>A ORCA-IN 10 97078088 97078088 single base substitution C T missense_variant G1269E 3806G>A ORCA-IN 10 97078088 97078088 single base substitution C T missense_variant G659E 1976G>A ORCA-IN 10 97078088 97078088 single base substitution C T missense_variant G756E 2267G>A ORCA-IN 10 97078088 97078088 single base substitution C T missense_variant G786E 2357G>A ORCA-IN 10 97078088 97078088 single base substitution C T missense_variant G791E 2372G>A ORCA-IN 10 97078088 97078088 single base substitution C T missense_variant G821E 2462G>A ORCA-IN 10 97078088 97078088 single base substitution C T missense_variant G880E 2639G>A ORCA-IN 10 97078088 97078088 single base substitution C T missense_variant G979E 2936G>A ORCA-IN 10 97078179 97078179 single base substitution G A stop_gained Q1096* 3286C>T ORCA-IN 10 97078179 97078179 single base substitution G A stop_gained Q1211* 3631C>T ORCA-IN 10 97078179 97078179 single base substitution G A stop_gained Q1237* 3709C>T ORCA-IN 10 97078179 97078179 single base substitution G A stop_gained Q1239* 3715C>T ORCA-IN 10 97078179 97078179 single base substitution G A stop_gained Q629* 1885C>T ORCA-IN 10 97078179 97078179 single base substitution G A stop_gained Q726* 2176C>T ORCA-IN 10 97078179 97078179 single base substitution G A stop_gained Q756* 2266C>T ORCA-IN 10 97078179 97078179 single base substitution G A stop_gained Q761* 2281C>T ORCA-IN 10 97078179 97078179 single base substitution G A stop_gained Q791* 2371C>T ORCA-IN 10 97078179 97078179 single base substitution G A stop_gained Q850* 2548C>T ORCA-IN 10 97078179 97078179 single base substitution G A stop_gained Q949* 2845C>T ORCA-IN 10 97106209 97106209 single base substitution T G missense_variant M1055L 3163A>C ORCA-IN 10 97106209 97106209 single base substitution T G missense_variant M169L 505A>C ORCA-IN 10 97106209 97106209 single base substitution T G missense_variant M445L 1333A>C ORCA-IN 10 97106209 97106209 single base substitution T G missense_variant M542L 1624A>C ORCA-IN 10 97106209 97106209 single base substitution T G missense_variant M572L 1714A>C ORCA-IN 10 97106209 97106209 single base substitution T G missense_variant M577L 1729A>C ORCA-IN 10 97106209 97106209 single base substitution T G missense_variant M607L 1819A>C ORCA-IN 10 97106209 97106209 single base substitution T G missense_variant M646L 1936A>C ORCA-IN 10 97106209 97106209 single base substitution T G missense_variant M749L 2245A>C ORCA-IN 10 97106209 97106209 single base substitution T G missense_variant M765L 2293A>C ORCA-IN 10 97106209 97106209 single base substitution T G missense_variant M795L 2383A>C ORCA-IN 10 97106209 97106209 single base substitution T G missense_variant M817L 2449A>C ORCA-IN 10 97106209 97106209 single base substitution T G splice_region_variant ORCA-IN 10 97113848 97113848 single base substitution C G intron_variant ORCA-IN 10 97164871 97164871 single base substitution G A intron_variant ORCA-IN 10 97180938 97180938 single base substitution G A intron_variant ORCA-IN 10 97183214 97183214 single base substitution G A intron_variant ORCA-IN 10 97183888 97183888 single base substitution G C intron_variant ORCA-IN 10 97184719 97184719 single base substitution C T intron_variant ORCA-IN 10 97202222 97202222 single base substitution C G intron_variant ORCA-IN 10 97202222 97202222 single base substitution C G upstream_gene_variant ORCA-IN 10 97239722 97239722 insertion of <=200bp - CA intron_variant ORCA-IN 10 97240509 97240509 single base substitution C T intron_variant ORCA-IN 10 97262767 97262767 single base substitution C A intron_variant ORCA-IN 10 97277284 97277284 single base substitution T G intron_variant ORCA-IN 10 97288801 97288801 single base substitution C A intron_variant ORCA-IN 10 97293620 97293620 single base substitution A G intron_variant ORCA-IN 10 97316431 97316431 single base substitution C T intron_variant ORCA-IN 10 97319037 97319037 single base substitution G C intron_variant OV-AU 10 97067043 97067043 single base substitution A C downstream_gene_variant OV-AU 10 97078117 97078117 single base substitution G A synonymous_variant I1116I 3348C>T OV-AU 10 97078117 97078117 single base substitution G A synonymous_variant I1231I 3693C>T OV-AU 10 97078117 97078117 single base substitution G A synonymous_variant I1257I 3771C>T OV-AU 10 97078117 97078117 single base substitution G A synonymous_variant I1259I 3777C>T OV-AU 10 97078117 97078117 single base substitution G A synonymous_variant I649I 1947C>T OV-AU 10 97078117 97078117 single base substitution G A synonymous_variant I746I 2238C>T OV-AU 10 97078117 97078117 single base substitution G A synonymous_variant I776I 2328C>T OV-AU 10 97078117 97078117 single base substitution G A synonymous_variant I781I 2343C>T OV-AU 10 97078117 97078117 single base substitution G A synonymous_variant I811I 2433C>T OV-AU 10 97078117 97078117 single base substitution G A synonymous_variant I870I 2610C>T OV-AU 10 97078117 97078117 single base substitution G A synonymous_variant I969I 2907C>T OV-AU 10 97081451 97081451 single base substitution G T intron_variant OV-AU 10 97088512 97088512 single base substitution A G intron_variant OV-AU 10 97092143 97092143 single base substitution C G intron_variant OV-AU 10 97096402 97096402 single base substitution G T downstream_gene_variant OV-AU 10 97096402 97096402 single base substitution G T intron_variant OV-AU 10 97096402 97096402 single base substitution G T missense_variant P1031H 3092C>A OV-AU 10 97096402 97096402 single base substitution G T missense_variant P1126H 3377C>A OV-AU 10 97096402 97096402 single base substitution G T missense_variant P1172H 3515C>A OV-AU 10 97096521 97096521 single base substitution C G downstream_gene_variant OV-AU 10 97096521 97096521 single base substitution C G intron_variant OV-AU 10 97096521 97096521 single base substitution C G missense_variant E1086D 3258G>C OV-AU 10 97096521 97096521 single base substitution C G missense_variant E1132D 3396G>C OV-AU 10 97096521 97096521 single base substitution C G missense_variant E991D 2973G>C OV-AU 10 97106077 97106077 single base substitution T C intron_variant OV-AU 10 97107121 97107121 single base substitution A G intron_variant OV-AU 10 97108898 97108898 single base substitution C G intron_variant OV-AU 10 97113973 97113973 single base substitution C T intron_variant OV-AU 10 97118709 97118709 single base substitution G C intron_variant OV-AU 10 97118709 97118709 single base substitution G C upstream_gene_variant OV-AU 10 97121290 97121290 single base substitution C G intron_variant OV-AU 10 97127919 97127919 single base substitution A T intron_variant OV-AU 10 97129246 97129246 single base substitution T A intron_variant OV-AU 10 97133432 97133432 single base substitution G C intron_variant OV-AU 10 97134570 97134570 single base substitution C A intron_variant OV-AU 10 97138500 97138500 single base substitution G A downstream_gene_variant OV-AU 10 97138500 97138500 single base substitution G A intron_variant OV-AU 10 97157375 97157375 single base substitution T A downstream_gene_variant OV-AU 10 97157375 97157375 single base substitution T A intron_variant OV-AU 10 97165039 97165039 single base substitution A T intron_variant OV-AU 10 97186514 97186514 single base substitution C G intron_variant OV-AU 10 97187139 97187139 single base substitution G T intron_variant OV-AU 10 97187251 97187251 single base substitution C A intron_variant OV-AU 10 97187252 97187252 single base substitution C T intron_variant OV-AU 10 97188673 97188673 single base substitution G A intron_variant OV-AU 10 97190894 97190894 single base substitution C A intron_variant OV-AU 10 97192197 97192197 single base substitution C T splice_region_variant OV-AU 10 97192314 97192314 single base substitution G C exon_variant OV-AU 10 97192314 97192314 single base substitution G C missense_variant I32M 96C>G OV-AU 10 97192314 97192314 single base substitution G C missense_variant I64M 192C>G OV-AU 10 97198990 97198990 single base substitution T C intron_variant OV-AU 10 97206771 97206771 single base substitution G A intron_variant OV-AU 10 97210173 97210173 single base substitution C G intron_variant OV-AU 10 97211002 97211002 single base substitution C T intron_variant OV-AU 10 97213801 97213801 single base substitution G C intron_variant OV-AU 10 97227080 97227080 single base substitution G A intron_variant OV-AU 10 97228508 97228508 single base substitution A G intron_variant OV-AU 10 97233401 97233401 single base substitution A T intron_variant OV-AU 10 97251956 97251956 single base substitution A G intron_variant OV-AU 10 97256989 97256989 single base substitution A G intron_variant OV-AU 10 97256989 97256989 single base substitution A G upstream_gene_variant OV-AU 10 97257058 97257058 single base substitution C A intron_variant OV-AU 10 97257058 97257058 single base substitution C A upstream_gene_variant OV-AU 10 97257278 97257278 single base substitution T A intron_variant OV-AU 10 97257278 97257278 single base substitution T A upstream_gene_variant OV-AU 10 97265980 97265980 single base substitution G C intron_variant OV-AU 10 97269125 97269125 single base substitution C A intron_variant OV-AU 10 97272932 97272932 single base substitution G T intron_variant OV-AU 10 97275763 97275763 single base substitution G A intron_variant OV-AU 10 97283347 97283347 single base substitution G A intron_variant OV-AU 10 97286500 97286500 single base substitution C G intron_variant OV-AU 10 97287902 97287902 single base substitution C A intron_variant OV-AU 10 97294585 97294585 single base substitution G A intron_variant OV-AU 10 97297882 97297882 single base substitution A G intron_variant OV-AU 10 97306540 97306540 single base substitution C G intron_variant OV-AU 10 97308494 97308494 single base substitution G A intron_variant OV-AU 10 97312683 97312683 single base substitution G A intron_variant OV-AU 10 97314712 97314712 single base substitution C T intron_variant OV-AU 10 97318518 97318518 single base substitution C T intron_variant OV-AU 10 97321041 97321041 single base substitution G C intron_variant OV-AU 10 97323242 97323242 single base substitution T A upstream_gene_variant OV-AU 10 97324503 97324503 single base substitution G A upstream_gene_variant OV-US 10 97096492 97096492 single base substitution C G downstream_gene_variant OV-US 10 97096492 97096492 single base substitution C G intron_variant OV-US 10 97096492 97096492 single base substitution C G missense_variant G1001A 3002G>C OV-US 10 97096492 97096492 single base substitution C G missense_variant G1096A 3287G>C OV-US 10 97096492 97096492 single base substitution C G missense_variant G1142A 3425G>C PACA-AU 10 97066808 97066808 single base substitution G A downstream_gene_variant PACA-AU 10 97068237 97068237 single base substitution A G downstream_gene_variant PACA-AU 10 97069640 97069640 single base substitution T A downstream_gene_variant PACA-AU 10 97077780 97077780 insertion of <=200bp - AATAAATA intron_variant PACA-AU 10 97077809 97077816 deletion of <=200bp ATAAATAT - intron_variant PACA-AU 10 97081653 97081653 single base substitution C T intron_variant PACA-AU 10 97082489 97082489 single base substitution A T intron_variant PACA-AU 10 97094649 97094649 single base substitution C A intron_variant PACA-AU 10 97102641 97102641 single base substitution T A intron_variant PACA-AU 10 97107395 97107395 single base substitution G A intron_variant PACA-AU 10 97115033 97115033 single base substitution C T intron_variant PACA-AU 10 97115171 97115171 single base substitution C T intron_variant PACA-AU 10 97122217 97122217 single base substitution G A intron_variant PACA-AU 10 97128729 97128729 single base substitution C A intron_variant PACA-AU 10 97130526 97130526 deletion of <=200bp T - intron_variant PACA-AU 10 97132168 97132168 single base substitution C G intron_variant PACA-AU 10 97137845 97137845 single base substitution C A downstream_gene_variant PACA-AU 10 97137845 97137845 single base substitution C A intron_variant PACA-AU 10 97138430 97138430 single base substitution C T downstream_gene_variant PACA-AU 10 97138430 97138430 single base substitution C T intron_variant PACA-AU 10 97140874 97140874 single base substitution G C downstream_gene_variant PACA-AU 10 97140874 97140874 single base substitution G C intron_variant PACA-AU 10 97153974 97153974 single base substitution C T downstream_gene_variant PACA-AU 10 97153974 97153974 single base substitution C T intron_variant PACA-AU 10 97156368 97156368 single base substitution C G downstream_gene_variant PACA-AU 10 97156368 97156368 single base substitution C G intron_variant PACA-AU 10 97160543 97160543 single base substitution G A intron_variant PACA-AU 10 97163422 97163422 single base substitution G A intron_variant PACA-AU 10 97172370 97172370 single base substitution A G downstream_gene_variant PACA-AU 10 97172370 97172370 single base substitution A G intron_variant PACA-AU 10 97180973 97180973 single base substitution A G intron_variant PACA-AU 10 97201934 97201934 single base substitution T G intron_variant PACA-AU 10 97201934 97201934 single base substitution T G upstream_gene_variant PACA-AU 10 97205039 97205039 single base substitution G A intron_variant PACA-AU 10 97205039 97205039 single base substitution G A upstream_gene_variant PACA-AU 10 97216959 97216959 single base substitution C G intron_variant PACA-AU 10 97217915 97217915 single base substitution C T intron_variant PACA-AU 10 97221499 97221499 deletion of <=200bp T - intron_variant PACA-AU 10 97222837 97222837 single base substitution C T intron_variant PACA-AU 10 97230143 97230143 single base substitution G A intron_variant PACA-AU 10 97232959 97232959 single base substitution G A intron_variant PACA-AU 10 97235814 97235814 single base substitution A T intron_variant PACA-AU 10 97236866 97236866 single base substitution T A intron_variant PACA-AU 10 97242060 97242060 single base substitution A C intron_variant PACA-AU 10 97251254 97251254 single base substitution T A intron_variant PACA-AU 10 97252565 97252565 single base substitution C T intron_variant PACA-AU 10 97254613 97254616 deletion of <=200bp TTTA - intron_variant PACA-AU 10 97254613 97254616 deletion of <=200bp TTTA - upstream_gene_variant PACA-AU 10 97260583 97260583 single base substitution C T intron_variant PACA-AU 10 97262795 97262795 single base substitution C A intron_variant PACA-AU 10 97263338 97263338 single base substitution G A intron_variant PACA-AU 10 97268599 97268599 single base substitution C T intron_variant PACA-AU 10 97280883 97280883 single base substitution T C intron_variant PACA-AU 10 97289389 97289389 single base substitution C T intron_variant PACA-AU 10 97291780 97291780 single base substitution T C intron_variant PACA-AU 10 97312014 97312014 single base substitution C A intron_variant PACA-AU 10 97312647 97312647 single base substitution G C intron_variant PACA-AU 10 97314169 97314169 single base substitution C A intron_variant PACA-AU 10 97314170 97314170 single base substitution C A intron_variant PACA-AU 10 97314977 97314977 single base substitution G A intron_variant PACA-CA 10 97067900 97067900 single base substitution G A downstream_gene_variant PACA-CA 10 97072727 97072727 single base substitution A C 3_prime_UTR_variant PACA-CA 10 97072727 97072727 single base substitution A C downstream_gene_variant PACA-CA 10 97077816 97077816 insertion of <=200bp - A intron_variant PACA-CA 10 97080357 97080357 single base substitution G A intron_variant PACA-CA 10 97080791 97080791 single base substitution G T intron_variant PACA-CA 10 97082352 97082352 single base substitution T C intron_variant PACA-CA 10 97090801 97090801 single base substitution C A intron_variant PACA-CA 10 97094870 97094870 single base substitution G A intron_variant PACA-CA 10 97096001 97096001 single base substitution G T intron_variant PACA-CA 10 97098824 97098824 single base substitution T C downstream_gene_variant PACA-CA 10 97098824 97098824 single base substitution T C intron_variant PACA-CA 10 97098988 97098988 single base substitution C T downstream_gene_variant PACA-CA 10 97098988 97098988 single base substitution C T missense_variant V1183M 3547G>A PACA-CA 10 97098988 97098988 single base substitution C T missense_variant V573M 1717G>A PACA-CA 10 97098988 97098988 single base substitution C T missense_variant V670M 2008G>A PACA-CA 10 97098988 97098988 single base substitution C T missense_variant V700M 2098G>A PACA-CA 10 97098988 97098988 single base substitution C T missense_variant V705M 2113G>A PACA-CA 10 97098988 97098988 single base substitution C T missense_variant V735M 2203G>A PACA-CA 10 97098988 97098988 single base substitution C T missense_variant V774M 2320G>A PACA-CA 10 97098988 97098988 single base substitution C T missense_variant V877M 2629G>A PACA-CA 10 97098988 97098988 single base substitution C T missense_variant V893M 2677G>A PACA-CA 10 97098988 97098988 single base substitution C T missense_variant V923M 2767G>A PACA-CA 10 97098988 97098988 single base substitution C T missense_variant V945M 2833G>A PACA-CA 10 97099039 97099039 single base substitution C T downstream_gene_variant PACA-CA 10 97099039 97099039 single base substitution C T missense_variant E1166K 3496G>A PACA-CA 10 97099039 97099039 single base substitution C T missense_variant E556K 1666G>A PACA-CA 10 97099039 97099039 single base substitution C T missense_variant E653K 1957G>A PACA-CA 10 97099039 97099039 single base substitution C T missense_variant E683K 2047G>A PACA-CA 10 97099039 97099039 single base substitution C T missense_variant E688K 2062G>A PACA-CA 10 97099039 97099039 single base substitution C T missense_variant E718K 2152G>A PACA-CA 10 97099039 97099039 single base substitution C T missense_variant E757K 2269G>A PACA-CA 10 97099039 97099039 single base substitution C T missense_variant E860K 2578G>A PACA-CA 10 97099039 97099039 single base substitution C T missense_variant E876K 2626G>A PACA-CA 10 97099039 97099039 single base substitution C T missense_variant E906K 2716G>A PACA-CA 10 97099039 97099039 single base substitution C T missense_variant E928K 2782G>A PACA-CA 10 97105935 97105935 single base substitution C G intron_variant PACA-CA 10 97106015 97106015 single base substitution G T intron_variant PACA-CA 10 97109204 97109204 single base substitution C T intron_variant PACA-CA 10 97118770 97118770 single base substitution C T intron_variant PACA-CA 10 97118770 97118770 single base substitution C T upstream_gene_variant PACA-CA 10 97119218 97119218 single base substitution C T intron_variant PACA-CA 10 97119218 97119218 single base substitution C T upstream_gene_variant PACA-CA 10 97121105 97121105 single base substitution T C intron_variant PACA-CA 10 97121815 97121815 single base substitution C G intron_variant PACA-CA 10 97124197 97124197 single base substitution T G intron_variant PACA-CA 10 97124199 97124199 single base substitution G T intron_variant PACA-CA 10 97132555 97132555 single base substitution A C intron_variant PACA-CA 10 97141665 97141665 single base substitution A T downstream_gene_variant PACA-CA 10 97141665 97141665 single base substitution A T intron_variant PACA-CA 10 97141771 97141771 single base substitution G T downstream_gene_variant PACA-CA 10 97141771 97141771 single base substitution G T intron_variant PACA-CA 10 97149347 97149347 single base substitution C A intron_variant PACA-CA 10 97152573 97152573 single base substitution A G intron_variant PACA-CA 10 97154490 97154490 single base substitution A C downstream_gene_variant PACA-CA 10 97154490 97154490 single base substitution A C intron_variant PACA-CA 10 97155689 97155689 single base substitution G A downstream_gene_variant PACA-CA 10 97155689 97155689 single base substitution G A intron_variant PACA-CA 10 97158481 97158481 single base substitution T C downstream_gene_variant PACA-CA 10 97158481 97158481 single base substitution T C intron_variant PACA-CA 10 97161901 97161901 single base substitution C T intron_variant PACA-CA 10 97163035 97163035 single base substitution C G intron_variant PACA-CA 10 97164107 97164107 single base substitution C T intron_variant PACA-CA 10 97165810 97165810 single base substitution C T intron_variant PACA-CA 10 97166871 97166871 single base substitution T A intron_variant PACA-CA 10 97173457 97173457 single base substitution G A downstream_gene_variant PACA-CA 10 97173457 97173457 single base substitution G A exon_variant PACA-CA 10 97173457 97173457 single base substitution G A intron_variant PACA-CA 10 97178115 97178115 single base substitution G A intron_variant PACA-CA 10 97178115 97178115 single base substitution G A upstream_gene_variant PACA-CA 10 97181552 97181552 single base substitution A G intron_variant PACA-CA 10 97183480 97183480 single base substitution C T intron_variant PACA-CA 10 97185393 97185393 single base substitution T A intron_variant PACA-CA 10 97190523 97190523 single base substitution T G intron_variant PACA-CA 10 97196202 97196202 single base substitution C T intron_variant PACA-CA 10 97200045 97200045 single base substitution G A intron_variant PACA-CA 10 97203010 97203010 single base substitution T A intron_variant PACA-CA 10 97203010 97203010 single base substitution T A upstream_gene_variant PACA-CA 10 97204656 97204656 insertion of <=200bp - A intron_variant PACA-CA 10 97204656 97204656 insertion of <=200bp - A upstream_gene_variant PACA-CA 10 97205268 97205268 single base substitution C T intron_variant PACA-CA 10 97205268 97205268 single base substitution C T upstream_gene_variant PACA-CA 10 97210976 97210976 single base substitution C T intron_variant PACA-CA 10 97215594 97215594 single base substitution C T intron_variant PACA-CA 10 97219795 97219795 single base substitution C T intron_variant PACA-CA 10 97221805 97221805 single base substitution G A intron_variant PACA-CA 10 97222189 97222189 single base substitution T C intron_variant PACA-CA 10 97222610 97222610 single base substitution C T intron_variant PACA-CA 10 97223594 97223594 single base substitution C T intron_variant PACA-CA 10 97226211 97226211 single base substitution G A intron_variant PACA-CA 10 97228825 97228825 single base substitution G A intron_variant PACA-CA 10 97229327 97229327 single base substitution G T intron_variant PACA-CA 10 97236048 97236048 single base substitution G C intron_variant PACA-CA 10 97241986 97241986 single base substitution T G intron_variant PACA-CA 10 97243382 97243382 single base substitution G C intron_variant PACA-CA 10 97243382 97243382 single base substitution G C upstream_gene_variant PACA-CA 10 97245164 97245164 single base substitution A G intron_variant PACA-CA 10 97245164 97245164 single base substitution A G upstream_gene_variant PACA-CA 10 97253440 97253440 single base substitution G C intron_variant PACA-CA 10 97253440 97253440 single base substitution G C upstream_gene_variant PACA-CA 10 97254616 97254616 insertion of <=200bp - TTTATTTATTTATTTG intron_variant PACA-CA 10 97254616 97254616 insertion of <=200bp - TTTATTTATTTATTTG upstream_gene_variant PACA-CA 10 97255678 97255678 deletion of <=200bp T - intron_variant PACA-CA 10 97255678 97255678 deletion of <=200bp T - upstream_gene_variant PACA-CA 10 97255969 97255969 single base substitution C T intron_variant PACA-CA 10 97255969 97255969 single base substitution C T upstream_gene_variant PACA-CA 10 97259297 97259297 single base substitution G A intron_variant PACA-CA 10 97265114 97265114 single base substitution T C intron_variant PACA-CA 10 97278589 97278589 single base substitution G A intron_variant PACA-CA 10 97278613 97278613 single base substitution T C intron_variant PACA-CA 10 97295778 97295778 single base substitution C T intron_variant PACA-CA 10 97295845 97295845 single base substitution G A intron_variant PACA-CA 10 97295865 97295865 single base substitution G A intron_variant PACA-CA 10 97296866 97296866 single base substitution C A intron_variant PACA-CA 10 97301322 97301322 single base substitution C T intron_variant PACA-CA 10 97301662 97301662 deletion of <=200bp C - intron_variant PACA-CA 10 97302421 97302421 single base substitution T C intron_variant PACA-CA 10 97310082 97310082 single base substitution C G intron_variant PACA-CA 10 97312700 97312700 single base substitution G C intron_variant PACA-CA 10 97317847 97317847 single base substitution A G intron_variant PACA-CA 10 97322423 97322423 single base substitution G C upstream_gene_variant PACA-CA 10 97322646 97322646 single base substitution T G upstream_gene_variant PAEN-AU 10 97102782 97102782 single base substitution G A intron_variant PAEN-AU 10 97102869 97102869 single base substitution C T intron_variant PAEN-AU 10 97155578 97155578 single base substitution C T downstream_gene_variant PAEN-AU 10 97155578 97155578 single base substitution C T intron_variant PAEN-AU 10 97161705 97161705 single base substitution C G intron_variant PAEN-AU 10 97171510 97171510 insertion of <=200bp - GAT downstream_gene_variant PAEN-AU 10 97171510 97171510 insertion of <=200bp - GAT intron_variant PAEN-AU 10 97229301 97229301 single base substitution A G intron_variant PAEN-AU 10 97266704 97266704 single base substitution A C intron_variant PAEN-AU 10 97286617 97286617 single base substitution C T intron_variant PAEN-IT 10 97076369 97076369 single base substitution T G intron_variant PAEN-IT 10 97081476 97081476 single base substitution C G intron_variant PAEN-IT 10 97172151 97172151 single base substitution G T downstream_gene_variant PAEN-IT 10 97172151 97172151 single base substitution G T intron_variant PAEN-IT 10 97200724 97200724 single base substitution G T intron_variant PAEN-IT 10 97223477 97223477 single base substitution T A intron_variant PBCA-DE 10 97084962 97084962 insertion of <=200bp - A intron_variant PBCA-DE 10 97094025 97094025 single base substitution C A intron_variant PBCA-DE 10 97097656 97097656 single base substitution C G downstream_gene_variant PBCA-DE 10 97097656 97097656 single base substitution C G intron_variant PBCA-DE 10 97100585 97100610 deletion of <=200bp CTGGGATTACAGGCCTTAATGCAATT - downstream_gene_variant PBCA-DE 10 97100585 97100610 deletion of <=200bp CTGGGATTACAGGCCTTAATGCAATT - intron_variant PBCA-DE 10 97102963 97102963 insertion of <=200bp - A intron_variant PBCA-DE 10 97119437 97119437 single base substitution A C intron_variant PBCA-DE 10 97119437 97119437 single base substitution A C upstream_gene_variant PBCA-DE 10 97163116 97163116 single base substitution C T intron_variant PBCA-DE 10 97164832 97164832 single base substitution G T intron_variant PBCA-DE 10 97167381 97167381 single base substitution A G intron_variant PBCA-DE 10 97175740 97175740 single base substitution A C exon_variant PBCA-DE 10 97175740 97175740 single base substitution A C intron_variant PBCA-DE 10 97175740 97175740 single base substitution A C upstream_gene_variant PBCA-DE 10 97182287 97182287 single base substitution C A intron_variant PBCA-DE 10 97185311 97185311 insertion of <=200bp - A intron_variant PBCA-DE 10 97188447 97188447 single base substitution G A intron_variant PBCA-DE 10 97206605 97206605 single base substitution T A intron_variant PBCA-DE 10 97207367 97207367 single base substitution T A intron_variant PBCA-DE 10 97216637 97216637 single base substitution C A intron_variant PBCA-DE 10 97223746 97223749 deletion of <=200bp TCTG - intron_variant PBCA-DE 10 97229681 97229681 deletion of <=200bp G - intron_variant PBCA-DE 10 97232744 97232744 single base substitution C T intron_variant PBCA-DE 10 97233417 97233417 single base substitution T C intron_variant PBCA-DE 10 97243825 97243825 single base substitution A G intron_variant PBCA-DE 10 97243825 97243825 single base substitution A G upstream_gene_variant PBCA-DE 10 97243983 97243983 insertion of <=200bp - AA intron_variant PBCA-DE 10 97243983 97243983 insertion of <=200bp - AA upstream_gene_variant PBCA-DE 10 97250772 97250772 single base substitution A G exon_variant PBCA-DE 10 97250772 97250772 single base substitution A G intron_variant PBCA-DE 10 97296876 97296876 single base substitution C G intron_variant PBCA-DE 10 97314450 97314451 deletion of <=200bp AC - intron_variant PBCA-DE 10 97322526 97322526 insertion of <=200bp - A upstream_gene_variant PRAD-CA 10 97076659 97076659 single base substitution T G intron_variant PRAD-CA 10 97094479 97094479 single base substitution A C intron_variant PRAD-CA 10 97100786 97100786 single base substitution C T downstream_gene_variant PRAD-CA 10 97100786 97100786 single base substitution C T intron_variant PRAD-CA 10 97105424 97105424 single base substitution A C intron_variant PRAD-CA 10 97165214 97165214 single base substitution G A intron_variant PRAD-CA 10 97168337 97168337 single base substitution G A intron_variant PRAD-CA 10 97189368 97189368 single base substitution A G intron_variant PRAD-CA 10 97189863 97189863 single base substitution G A intron_variant PRAD-CA 10 97224089 97224089 single base substitution G A intron_variant PRAD-CA 10 97228521 97228521 single base substitution G A intron_variant PRAD-CA 10 97229436 97229436 single base substitution C T intron_variant PRAD-CA 10 97247314 97247314 single base substitution G A downstream_gene_variant PRAD-CA 10 97247314 97247314 single base substitution G A intron_variant PRAD-CA 10 97247314 97247314 single base substitution G A upstream_gene_variant PRAD-CA 10 97258061 97258061 single base substitution T G intron_variant PRAD-CA 10 97258832 97258832 single base substitution T G intron_variant PRAD-CA 10 97258837 97258837 single base substitution T G intron_variant PRAD-CA 10 97269390 97269390 single base substitution G A intron_variant PRAD-CA 10 97287602 97287602 single base substitution T C intron_variant PRAD-CA 10 97307675 97307675 single base substitution C T intron_variant PRAD-CA 10 97315671 97315671 single base substitution G A intron_variant PRAD-UK 10 97081729 97081729 single base substitution G A missense_variant S1089L 3266C>T PRAD-UK 10 97081729 97081729 single base substitution G A missense_variant S1204L 3611C>T PRAD-UK 10 97081729 97081729 single base substitution G A missense_variant S1230L 3689C>T PRAD-UK 10 97081729 97081729 single base substitution G A missense_variant S1232L 3695C>T PRAD-UK 10 97081729 97081729 single base substitution G A missense_variant S622L 1865C>T PRAD-UK 10 97081729 97081729 single base substitution G A missense_variant S719L 2156C>T PRAD-UK 10 97081729 97081729 single base substitution G A missense_variant S749L 2246C>T PRAD-UK 10 97081729 97081729 single base substitution G A missense_variant S754L 2261C>T PRAD-UK 10 97081729 97081729 single base substitution G A missense_variant S784L 2351C>T PRAD-UK 10 97081729 97081729 single base substitution G A missense_variant S843L 2528C>T PRAD-UK 10 97081729 97081729 single base substitution G A missense_variant S942L 2825C>T PRAD-UK 10 97082709 97082709 single base substitution C A intron_variant PRAD-UK 10 97091010 97091010 deletion of <=200bp C - intron_variant PRAD-UK 10 97097073 97097073 single base substitution G A downstream_gene_variant PRAD-UK 10 97097073 97097073 single base substitution G A intron_variant PRAD-UK 10 97100107 97100107 single base substitution G A downstream_gene_variant PRAD-UK 10 97100107 97100107 single base substitution G A intron_variant PRAD-UK 10 97108957 97108957 single base substitution G A intron_variant PRAD-UK 10 97109363 97109363 single base substitution G A intron_variant PRAD-UK 10 97110229 97110229 single base substitution T A intron_variant PRAD-UK 10 97114862 97114862 single base substitution G A intron_variant PRAD-UK 10 97126090 97126090 single base substitution A T intron_variant PRAD-UK 10 97129075 97129075 single base substitution T G intron_variant PRAD-UK 10 97132920 97132920 single base substitution G C intron_variant PRAD-UK 10 97144838 97144838 single base substitution C T intron_variant PRAD-UK 10 97144838 97144838 single base substitution C T upstream_gene_variant PRAD-UK 10 97166617 97166617 single base substitution A G intron_variant PRAD-UK 10 97174308 97174308 single base substitution G T downstream_gene_variant PRAD-UK 10 97174308 97174308 single base substitution G T exon_variant PRAD-UK 10 97174308 97174308 single base substitution G T intron_variant PRAD-UK 10 97174308 97174308 single base substitution G T synonymous_variant A182A 546C>A PRAD-UK 10 97174308 97174308 single base substitution G T synonymous_variant A219A 657C>A PRAD-UK 10 97174308 97174308 single base substitution G T synonymous_variant A242A 726C>A PRAD-UK 10 97174308 97174308 single base substitution G T synonymous_variant A251A 753C>A PRAD-UK 10 97174308 97174308 single base substitution G T upstream_gene_variant PRAD-UK 10 97179939 97179939 single base substitution A G intron_variant PRAD-UK 10 97179939 97179939 single base substitution A G upstream_gene_variant PRAD-UK 10 97186847 97186847 single base substitution T C intron_variant PRAD-UK 10 97187213 97187213 single base substitution C T intron_variant PRAD-UK 10 97192090 97192090 deletion of <=200bp A - intron_variant PRAD-UK 10 97194205 97194205 single base substitution C A intron_variant PRAD-UK 10 97194589 97194589 single base substitution T C intron_variant PRAD-UK 10 97196444 97196444 single base substitution G A intron_variant PRAD-UK 10 97198815 97198815 single base substitution T A intron_variant PRAD-UK 10 97200448 97200448 single base substitution T C intron_variant PRAD-UK 10 97206307 97206307 single base substitution C A intron_variant PRAD-UK 10 97227160 97227160 single base substitution T C intron_variant PRAD-UK 10 97234430 97234430 single base substitution A C intron_variant PRAD-UK 10 97234713 97234713 single base substitution C A intron_variant PRAD-UK 10 97235172 97235172 single base substitution C T intron_variant PRAD-UK 10 97235243 97235252 deletion of <=200bp ATCTAACCTC - intron_variant PRAD-UK 10 97254295 97254295 single base substitution C T intron_variant PRAD-UK 10 97254295 97254295 single base substitution C T upstream_gene_variant PRAD-UK 10 97255097 97255097 single base substitution A G intron_variant PRAD-UK 10 97255097 97255097 single base substitution A G upstream_gene_variant PRAD-UK 10 97257265 97257265 single base substitution G A intron_variant PRAD-UK 10 97257265 97257265 single base substitution G A upstream_gene_variant PRAD-UK 10 97269564 97269564 single base substitution C T intron_variant PRAD-UK 10 97282073 97282073 single base substitution T C intron_variant PRAD-UK 10 97290849 97290849 single base substitution C G intron_variant PRAD-UK 10 97296224 97296224 insertion of <=200bp - T intron_variant PRAD-UK 10 97303553 97303553 deletion of <=200bp G - intron_variant PRAD-UK 10 97310391 97310391 single base substitution G C intron_variant PRAD-UK 10 97312265 97312265 single base substitution G T intron_variant PRAD-UK 10 97312266 97312266 single base substitution A C intron_variant PRAD-US 10 97192294 97192294 single base substitution A T exon_variant PRAD-US 10 97192294 97192294 single base substitution A T missense_variant V39E 116T>A PRAD-US 10 97192294 97192294 single base substitution A T missense_variant V71E 212T>A PRAD-US 10 97192297 97192297 single base substitution G A exon_variant PRAD-US 10 97192297 97192297 single base substitution G A missense_variant A38V 113C>T PRAD-US 10 97192297 97192297 single base substitution G A missense_variant A70V 209C>T READ-US 10 97143838 97143838 single base substitution C G exon_variant READ-US 10 97143838 97143838 single base substitution C G missense_variant S270T 809G>C READ-US 10 97143838 97143838 single base substitution C G missense_variant S271T 812G>C READ-US 10 97143838 97143838 single base substitution C G missense_variant S280T 839G>C READ-US 10 97143838 97143838 single base substitution C G missense_variant S312T 935G>C READ-US 10 97143838 97143838 single base substitution C G missense_variant S349T 1046G>C READ-US 10 97143838 97143838 single base substitution C G missense_variant S366T 1097G>C READ-US 10 97143838 97143838 single base substitution C G missense_variant S403T 1208G>C READ-US 10 97143838 97143838 single base substitution C G missense_variant S435T 1304G>C READ-US 10 97143838 97143838 single base substitution C G missense_variant S451T 1352G>C READ-US 10 97143838 97143838 single base substitution C G missense_variant S481T 1442G>C READ-US 10 97143838 97143838 single base substitution C G missense_variant S503T 1508G>C RECA-EU 10 97067785 97067785 single base substitution T C downstream_gene_variant RECA-EU 10 97079687 97079687 single base substitution G A intron_variant RECA-EU 10 97083287 97083287 single base substitution C T intron_variant RECA-EU 10 97087319 97087319 single base substitution A T intron_variant RECA-EU 10 97092356 97092356 single base substitution T A intron_variant RECA-EU 10 97093286 97093286 single base substitution A T intron_variant RECA-EU 10 97100847 97100847 single base substitution C A downstream_gene_variant RECA-EU 10 97100847 97100847 single base substitution C A intron_variant RECA-EU 10 97102578 97102578 single base substitution C T intron_variant RECA-EU 10 97104599 97104599 single base substitution G A intron_variant RECA-EU 10 97106163 97106163 single base substitution T A missense_variant K1070M 3209A>T RECA-EU 10 97106163 97106163 single base substitution T A missense_variant K184M 551A>T RECA-EU 10 97106163 97106163 single base substitution T A missense_variant K460M 1379A>T RECA-EU 10 97106163 97106163 single base substitution T A missense_variant K557M 1670A>T RECA-EU 10 97106163 97106163 single base substitution T A missense_variant K587M 1760A>T RECA-EU 10 97106163 97106163 single base substitution T A missense_variant K592M 1775A>T RECA-EU 10 97106163 97106163 single base substitution T A missense_variant K622M 1865A>T RECA-EU 10 97106163 97106163 single base substitution T A missense_variant K661M 1982A>T RECA-EU 10 97106163 97106163 single base substitution T A missense_variant K764M 2291A>T RECA-EU 10 97106163 97106163 single base substitution T A missense_variant K780M 2339A>T RECA-EU 10 97106163 97106163 single base substitution T A missense_variant K810M 2429A>T RECA-EU 10 97106163 97106163 single base substitution T A missense_variant K832M 2495A>T RECA-EU 10 97106163 97106163 single base substitution T A splice_region_variant RECA-EU 10 97109257 97109257 single base substitution C A intron_variant RECA-EU 10 97114647 97114647 single base substitution C T exon_variant RECA-EU 10 97114647 97114647 single base substitution C T missense_variant D166N 496G>A RECA-EU 10 97114647 97114647 single base substitution C T missense_variant D442N 1324G>A RECA-EU 10 97114647 97114647 single base substitution C T missense_variant D483N 1447G>A RECA-EU 10 97114647 97114647 single base substitution C T missense_variant D513N 1537G>A RECA-EU 10 97114647 97114647 single base substitution C T missense_variant D548N 1642G>A RECA-EU 10 97114647 97114647 single base substitution C T missense_variant D574N 1720G>A RECA-EU 10 97114647 97114647 single base substitution C T missense_variant D587N 1759G>A RECA-EU 10 97114647 97114647 single base substitution C T missense_variant D690N 2068G>A RECA-EU 10 97114647 97114647 single base substitution C T missense_variant D706N 2116G>A RECA-EU 10 97114647 97114647 single base substitution C T missense_variant D736N 2206G>A RECA-EU 10 97114647 97114647 single base substitution C T missense_variant D758N 2272G>A RECA-EU 10 97114647 97114647 single base substitution C T missense_variant D996N 2986G>A RECA-EU 10 97116054 97116054 single base substitution A G intron_variant RECA-EU 10 97116054 97116054 single base substitution A G synonymous_variant S746S 2238T>C RECA-EU 10 97116054 97116054 single base substitution A G upstream_gene_variant RECA-EU 10 97116277 97116277 single base substitution C A intron_variant RECA-EU 10 97116277 97116277 single base substitution C A missense_variant G672V 2015G>T RECA-EU 10 97116277 97116277 single base substitution C A upstream_gene_variant RECA-EU 10 97124199 97124199 single base substitution G T intron_variant RECA-EU 10 97136847 97136847 single base substitution G T downstream_gene_variant RECA-EU 10 97136847 97136847 single base substitution G T intron_variant RECA-EU 10 97138526 97138526 single base substitution A G downstream_gene_variant RECA-EU 10 97138526 97138526 single base substitution A G intron_variant RECA-EU 10 97138530 97138530 single base substitution A G downstream_gene_variant RECA-EU 10 97138530 97138530 single base substitution A G intron_variant RECA-EU 10 97139863 97139863 single base substitution C A downstream_gene_variant RECA-EU 10 97139863 97139863 single base substitution C A intron_variant RECA-EU 10 97140183 97140183 single base substitution A T downstream_gene_variant RECA-EU 10 97140183 97140183 single base substitution A T intron_variant RECA-EU 10 97140466 97140466 single base substitution C T downstream_gene_variant RECA-EU 10 97140466 97140466 single base substitution C T intron_variant RECA-EU 10 97142824 97142824 single base substitution T G downstream_gene_variant RECA-EU 10 97142824 97142824 single base substitution T G intron_variant RECA-EU 10 97155080 97155080 single base substitution G A downstream_gene_variant RECA-EU 10 97155080 97155080 single base substitution G A intron_variant RECA-EU 10 97158651 97158651 single base substitution G A downstream_gene_variant RECA-EU 10 97158651 97158651 single base substitution G A intron_variant RECA-EU 10 97171963 97171963 single base substitution T C downstream_gene_variant RECA-EU 10 97171963 97171963 single base substitution T C intron_variant RECA-EU 10 97177014 97177014 single base substitution T A intron_variant RECA-EU 10 97177014 97177014 single base substitution T A upstream_gene_variant RECA-EU 10 97177631 97177631 single base substitution T C intron_variant RECA-EU 10 97177631 97177631 single base substitution T C upstream_gene_variant RECA-EU 10 97196380 97196380 single base substitution G A intron_variant RECA-EU 10 97196384 97196384 single base substitution T G intron_variant RECA-EU 10 97200117 97200117 single base substitution C T intron_variant RECA-EU 10 97203406 97203406 single base substitution G A intron_variant RECA-EU 10 97203406 97203406 single base substitution G A upstream_gene_variant RECA-EU 10 97246859 97246859 single base substitution G C downstream_gene_variant RECA-EU 10 97246859 97246859 single base substitution G C intron_variant RECA-EU 10 97246859 97246859 single base substitution G C upstream_gene_variant RECA-EU 10 97254636 97254636 single base substitution A G intron_variant RECA-EU 10 97254636 97254636 single base substitution A G upstream_gene_variant RECA-EU 10 97255639 97255639 single base substitution A T intron_variant RECA-EU 10 97255639 97255639 single base substitution A T upstream_gene_variant RECA-EU 10 97257298 97257298 single base substitution G A intron_variant RECA-EU 10 97257298 97257298 single base substitution G A upstream_gene_variant RECA-EU 10 97259863 97259863 single base substitution C A intron_variant RECA-EU 10 97262698 97262698 single base substitution A C intron_variant RECA-EU 10 97276831 97276831 single base substitution T G intron_variant RECA-EU 10 97281321 97281321 single base substitution G A intron_variant RECA-EU 10 97300606 97300606 single base substitution C G intron_variant RECA-EU 10 97303794 97303794 single base substitution A T intron_variant RECA-EU 10 97306482 97306482 single base substitution C G intron_variant RECA-EU 10 97315859 97315859 single base substitution A C intron_variant RECA-EU 10 97318474 97318474 single base substitution A G intron_variant RECA-EU 10 97323792 97323792 single base substitution T C upstream_gene_variant RECA-EU 10 97324679 97324679 single base substitution G A upstream_gene_variant SKCA-BR 10 97067081 97067081 single base substitution A G downstream_gene_variant SKCA-BR 10 97067794 97067794 single base substitution C T downstream_gene_variant SKCA-BR 10 97067795 97067795 single base substitution C T downstream_gene_variant SKCA-BR 10 97071038 97071040 deletion of <=200bp GGA - downstream_gene_variant SKCA-BR 10 97072726 97072726 insertion of <=200bp - AC 3_prime_UTR_variant SKCA-BR 10 97072726 97072726 insertion of <=200bp - AC downstream_gene_variant SKCA-BR 10 97076951 97076951 single base substitution G A intron_variant SKCA-BR 10 97077779 97077787 deletion of <=200bp CAATAAATA - intron_variant SKCA-BR 10 97077990 97077990 single base substitution G A intron_variant SKCA-BR 10 97078574 97078574 single base substitution T G intron_variant SKCA-BR 10 97078755 97078755 single base substitution G A intron_variant SKCA-BR 10 97084620 97084620 single base substitution G A intron_variant SKCA-BR 10 97087787 97087787 single base substitution G T intron_variant SKCA-BR 10 97092276 97092276 single base substitution C T intron_variant SKCA-BR 10 97096998 97096998 single base substitution G A downstream_gene_variant SKCA-BR 10 97096998 97096998 single base substitution G A intron_variant SKCA-BR 10 97096998 97096998 single base substitution G A synonymous_variant S927S 2781C>T SKCA-BR 10 97096998 97096998 single base substitution G A synonymous_variant S973S 2919C>T SKCA-BR 10 97100584 97100610 deletion of <=200bp GCTGGGATTACAGGCCTTAATGCAATT - downstream_gene_variant SKCA-BR 10 97100584 97100610 deletion of <=200bp GCTGGGATTACAGGCCTTAATGCAATT - intron_variant SKCA-BR 10 97102620 97102620 insertion of <=200bp - GTTATTA intron_variant SKCA-BR 10 97102641 97102641 single base substitution T A intron_variant SKCA-BR 10 97104891 97104891 single base substitution G A intron_variant SKCA-BR 10 97109563 97109563 single base substitution A C intron_variant SKCA-BR 10 97111953 97111953 single base substitution G A intron_variant SKCA-BR 10 97115740 97115740 single base substitution C T intron_variant SKCA-BR 10 97115740 97115740 single base substitution C T missense_variant R21K 62G>A SKCA-BR 10 97115740 97115740 single base substitution C T missense_variant R851K 2552G>A SKCA-BR 10 97117442 97117442 single base substitution G A exon_variant SKCA-BR 10 97117442 97117442 single base substitution G A missense_variant P398S 1192C>T SKCA-BR 10 97117442 97117442 single base substitution G A missense_variant P439S 1315C>T SKCA-BR 10 97117442 97117442 single base substitution G A missense_variant P459S 1375C>T SKCA-BR 10 97117442 97117442 single base substitution G A missense_variant P469S 1405C>T SKCA-BR 10 97117442 97117442 single base substitution G A missense_variant P504S 1510C>T SKCA-BR 10 97117442 97117442 single base substitution G A missense_variant P530S 1588C>T SKCA-BR 10 97117442 97117442 single base substitution G A missense_variant P543S 1627C>T SKCA-BR 10 97117442 97117442 single base substitution G A missense_variant P646S 1936C>T SKCA-BR 10 97117442 97117442 single base substitution G A missense_variant P662S 1984C>T SKCA-BR 10 97117442 97117442 single base substitution G A missense_variant P692S 2074C>T SKCA-BR 10 97117442 97117442 single base substitution G A missense_variant P714S 2140C>T SKCA-BR 10 97117442 97117442 single base substitution G A upstream_gene_variant SKCA-BR 10 97118462 97118462 insertion of <=200bp - TGC intron_variant SKCA-BR 10 97118462 97118462 insertion of <=200bp - TGC upstream_gene_variant SKCA-BR 10 97118462 97118464 deletion of <=200bp TGC - intron_variant SKCA-BR 10 97118462 97118464 deletion of <=200bp TGC - upstream_gene_variant SKCA-BR 10 97118479 97118479 single base substitution G A intron_variant SKCA-BR 10 97118479 97118479 single base substitution G A upstream_gene_variant SKCA-BR 10 97120067 97120073 deletion of <=200bp CCTCCCA - intron_variant SKCA-BR 10 97120067 97120073 deletion of <=200bp CCTCCCA - upstream_gene_variant SKCA-BR 10 97121499 97121499 single base substitution A C intron_variant SKCA-BR 10 97121504 97121504 single base substitution G C intron_variant SKCA-BR 10 97124926 97124926 single base substitution C A intron_variant SKCA-BR 10 97128822 97128822 single base substitution C T intron_variant SKCA-BR 10 97133257 97133257 single base substitution T C intron_variant SKCA-BR 10 97137254 97137254 single base substitution A G downstream_gene_variant SKCA-BR 10 97137254 97137254 single base substitution A G intron_variant SKCA-BR 10 97138492 97138492 insertion of <=200bp - ATG downstream_gene_variant SKCA-BR 10 97138492 97138492 insertion of <=200bp - ATG intron_variant SKCA-BR 10 97141510 97141510 single base substitution G A downstream_gene_variant SKCA-BR 10 97141510 97141510 single base substitution G A exon_variant SKCA-BR 10 97141510 97141510 single base substitution G A missense_variant R318C 952C>T SKCA-BR 10 97141510 97141510 single base substitution G A missense_variant R319C 955C>T SKCA-BR 10 97141510 97141510 single base substitution G A missense_variant R328C 982C>T SKCA-BR 10 97141510 97141510 single base substitution G A missense_variant R360C 1078C>T SKCA-BR 10 97141510 97141510 single base substitution G A missense_variant R397C 1189C>T SKCA-BR 10 97141510 97141510 single base substitution G A missense_variant R414C 1240C>T SKCA-BR 10 97141510 97141510 single base substitution G A missense_variant R451C 1351C>T SKCA-BR 10 97141510 97141510 single base substitution G A missense_variant R483C 1447C>T SKCA-BR 10 97141510 97141510 single base substitution G A missense_variant R499C 1495C>T SKCA-BR 10 97141510 97141510 single base substitution G A missense_variant R529C 1585C>T SKCA-BR 10 97141510 97141510 single base substitution G A missense_variant R551C 1651C>T SKCA-BR 10 97143440 97143440 single base substitution A T downstream_gene_variant SKCA-BR 10 97143440 97143440 single base substitution A T intron_variant SKCA-BR 10 97145883 97145883 single base substitution G A intron_variant SKCA-BR 10 97145883 97145883 single base substitution G A upstream_gene_variant SKCA-BR 10 97152021 97152023 deletion of <=200bp TAA - intron_variant SKCA-BR 10 97152695 97152695 single base substitution C T intron_variant SKCA-BR 10 97154071 97154071 single base substitution G A downstream_gene_variant SKCA-BR 10 97154071 97154071 single base substitution G A intron_variant SKCA-BR 10 97157343 97157343 single base substitution T C downstream_gene_variant SKCA-BR 10 97157343 97157343 single base substitution T C intron_variant SKCA-BR 10 97163280 97163280 single base substitution G A intron_variant SKCA-BR 10 97163322 97163322 insertion of <=200bp - GTT intron_variant SKCA-BR 10 97167702 97167704 deletion of <=200bp CAA - intron_variant SKCA-BR 10 97168218 97168218 single base substitution C T intron_variant SKCA-BR 10 97173450 97173450 single base substitution G A downstream_gene_variant SKCA-BR 10 97173450 97173450 single base substitution G A exon_variant SKCA-BR 10 97173450 97173450 single base substitution G A intron_variant SKCA-BR 10 97177379 97177381 deletion of <=200bp CTT - intron_variant SKCA-BR 10 97177379 97177381 deletion of <=200bp CTT - upstream_gene_variant SKCA-BR 10 97183026 97183026 single base substitution C T intron_variant SKCA-BR 10 97188052 97188052 single base substitution C T intron_variant SKCA-BR 10 97192847 97192847 single base substitution G A intron_variant SKCA-BR 10 97193209 97193209 single base substitution G A intron_variant SKCA-BR 10 97193347 97193347 single base substitution G A intron_variant SKCA-BR 10 97198207 97198207 single base substitution C T intron_variant SKCA-BR 10 97198215 97198215 single base substitution C A intron_variant SKCA-BR 10 97199495 97199495 single base substitution A G intron_variant SKCA-BR 10 97201894 97201894 single base substitution G A intron_variant SKCA-BR 10 97201894 97201894 single base substitution G A upstream_gene_variant SKCA-BR 10 97201995 97201995 single base substitution T G intron_variant SKCA-BR 10 97201995 97201995 single base substitution T G upstream_gene_variant SKCA-BR 10 97202280 97202283 deletion of <=200bp CCCG - intron_variant SKCA-BR 10 97202280 97202283 deletion of <=200bp CCCG - upstream_gene_variant SKCA-BR 10 97204528 97204528 single base substitution G A intron_variant SKCA-BR 10 97204528 97204528 single base substitution G A upstream_gene_variant SKCA-BR 10 97204883 97204883 single base substitution C T intron_variant SKCA-BR 10 97204883 97204883 single base substitution C T upstream_gene_variant SKCA-BR 10 97206055 97206055 single base substitution T C intron_variant SKCA-BR 10 97206063 97206063 single base substitution A C intron_variant SKCA-BR 10 97210612 97210612 single base substitution T C intron_variant SKCA-BR 10 97211949 97211949 single base substitution G T intron_variant SKCA-BR 10 97218129 97218129 single base substitution A T intron_variant SKCA-BR 10 97218405 97218405 single base substitution G A intron_variant SKCA-BR 10 97224075 97224075 insertion of <=200bp - TA intron_variant SKCA-BR 10 97225284 97225285 deletion of <=200bp CA - intron_variant SKCA-BR 10 97227285 97227285 single base substitution A G intron_variant SKCA-BR 10 97229139 97229139 single base substitution C G intron_variant SKCA-BR 10 97232205 97232205 single base substitution G A intron_variant SKCA-BR 10 97234442 97234442 single base substitution A C intron_variant SKCA-BR 10 97235939 97235939 single base substitution G A intron_variant SKCA-BR 10 97239708 97239708 single base substitution A G intron_variant SKCA-BR 10 97242221 97242221 single base substitution C T 5_prime_UTR_variant SKCA-BR 10 97242221 97242221 single base substitution C T intron_variant SKCA-BR 10 97249428 97249428 single base substitution C T downstream_gene_variant SKCA-BR 10 97249428 97249428 single base substitution C T intron_variant SKCA-BR 10 97251062 97251062 single base substitution G A intron_variant SKCA-BR 10 97253483 97253483 single base substitution C T intron_variant SKCA-BR 10 97253483 97253483 single base substitution C T upstream_gene_variant SKCA-BR 10 97254612 97254612 insertion of <=200bp - TTTTATTTATTTATTTATTTG intron_variant SKCA-BR 10 97254612 97254612 insertion of <=200bp - TTTTATTTATTTATTTATTTG upstream_gene_variant SKCA-BR 10 97254616 97254616 insertion of <=200bp - ATTTATTTATTTATTTG intron_variant SKCA-BR 10 97254616 97254616 insertion of <=200bp - ATTTATTTATTTATTTG upstream_gene_variant SKCA-BR 10 97254616 97254616 single base substitution A G intron_variant SKCA-BR 10 97254616 97254616 single base substitution A G upstream_gene_variant SKCA-BR 10 97254620 97254620 insertion of <=200bp - ATTTATTTATTTGTTTG intron_variant SKCA-BR 10 97254620 97254620 insertion of <=200bp - ATTTATTTATTTGTTTG upstream_gene_variant SKCA-BR 10 97254628 97254628 insertion of <=200bp - ATTTGTTTATTTATTTG intron_variant SKCA-BR 10 97254628 97254628 insertion of <=200bp - ATTTGTTTATTTATTTG upstream_gene_variant SKCA-BR 10 97254636 97254636 single base substitution A G intron_variant SKCA-BR 10 97254636 97254636 single base substitution A G upstream_gene_variant SKCA-BR 10 97254640 97254640 single base substitution A G intron_variant SKCA-BR 10 97254640 97254640 single base substitution A G upstream_gene_variant SKCA-BR 10 97255950 97255950 single base substitution G A intron_variant SKCA-BR 10 97255950 97255950 single base substitution G A upstream_gene_variant SKCA-BR 10 97256480 97256480 single base substitution G A intron_variant SKCA-BR 10 97256480 97256480 single base substitution G A upstream_gene_variant SKCA-BR 10 97260170 97260170 single base substitution T C intron_variant SKCA-BR 10 97260344 97260344 single base substitution G A intron_variant SKCA-BR 10 97261048 97261048 single base substitution A C intron_variant SKCA-BR 10 97261051 97261051 single base substitution T C intron_variant SKCA-BR 10 97263315 97263315 single base substitution T C intron_variant SKCA-BR 10 97264281 97264281 single base substitution C T intron_variant SKCA-BR 10 97269390 97269391 deletion of <=200bp GA - intron_variant SKCA-BR 10 97270086 97270086 insertion of <=200bp - CT intron_variant SKCA-BR 10 97270401 97270401 single base substitution G A intron_variant SKCA-BR 10 97271648 97271648 single base substitution G A intron_variant SKCA-BR 10 97274615 97274615 single base substitution C T intron_variant SKCA-BR 10 97279226 97279226 single base substitution G A intron_variant SKCA-BR 10 97288924 97288924 single base substitution A C intron_variant SKCA-BR 10 97290214 97290214 single base substitution G T intron_variant SKCA-BR 10 97291267 97291267 single base substitution C T intron_variant SKCA-BR 10 97291397 97291397 single base substitution G A intron_variant SKCA-BR 10 97292984 97292984 single base substitution G T intron_variant SKCA-BR 10 97297823 97297823 single base substitution C T intron_variant SKCA-BR 10 97299802 97299802 single base substitution A C intron_variant SKCA-BR 10 97308060 97308060 single base substitution A G intron_variant SKCA-BR 10 97308205 97308205 insertion of <=200bp - CT intron_variant SKCA-BR 10 97310490 97310490 single base substitution A G intron_variant SKCA-BR 10 97310836 97310836 single base substitution G A intron_variant SKCA-BR 10 97314544 97314544 single base substitution A C intron_variant SKCA-BR 10 97320515 97320515 single base substitution T C intron_variant SKCA-BR 10 97322525 97322525 insertion of <=200bp - TAAAAA upstream_gene_variant SKCA-BR 10 97323368 97323368 insertion of <=200bp - AAG upstream_gene_variant SKCM-US 10 97078132 97078132 single base substitution G A synonymous_variant L1111L 3333C>T SKCM-US 10 97078132 97078132 single base substitution G A synonymous_variant L1226L 3678C>T SKCM-US 10 97078132 97078132 single base substitution G A synonymous_variant L1252L 3756C>T SKCM-US 10 97078132 97078132 single base substitution G A synonymous_variant L1254L 3762C>T SKCM-US 10 97078132 97078132 single base substitution G A synonymous_variant L644L 1932C>T SKCM-US 10 97078132 97078132 single base substitution G A synonymous_variant L741L 2223C>T SKCM-US 10 97078132 97078132 single base substitution G A synonymous_variant L771L 2313C>T SKCM-US 10 97078132 97078132 single base substitution G A synonymous_variant L776L 2328C>T SKCM-US 10 97078132 97078132 single base substitution G A synonymous_variant L806L 2418C>T SKCM-US 10 97078132 97078132 single base substitution G A synonymous_variant L865L 2595C>T SKCM-US 10 97078132 97078132 single base substitution G A synonymous_variant L964L 2892C>T SKCM-US 10 97081768 97081768 single base substitution G A missense_variant A1076V 3227C>T SKCM-US 10 97081768 97081768 single base substitution G A missense_variant A1191V 3572C>T SKCM-US 10 97081768 97081768 single base substitution G A missense_variant A1217V 3650C>T SKCM-US 10 97081768 97081768 single base substitution G A missense_variant A1219V 3656C>T SKCM-US 10 97081768 97081768 single base substitution G A missense_variant A609V 1826C>T SKCM-US 10 97081768 97081768 single base substitution G A missense_variant A706V 2117C>T SKCM-US 10 97081768 97081768 single base substitution G A missense_variant A736V 2207C>T SKCM-US 10 97081768 97081768 single base substitution G A missense_variant A741V 2222C>T SKCM-US 10 97081768 97081768 single base substitution G A missense_variant A771V 2312C>T SKCM-US 10 97081768 97081768 single base substitution G A missense_variant A830V 2489C>T SKCM-US 10 97081768 97081768 single base substitution G A missense_variant A929V 2786C>T SKCM-US 10 97096387 97096387 single base substitution G A downstream_gene_variant SKCM-US 10 97096387 97096387 single base substitution G A intron_variant SKCM-US 10 97096387 97096387 single base substitution G A missense_variant P1036L 3107C>T SKCM-US 10 97096387 97096387 single base substitution G A missense_variant P1131L 3392C>T SKCM-US 10 97096387 97096387 single base substitution G A missense_variant P1177L 3530C>T SKCM-US 10 97096734 97096734 single base substitution G C downstream_gene_variant SKCM-US 10 97096734 97096734 single base substitution G C intron_variant SKCM-US 10 97096734 97096734 single base substitution G C synonymous_variant T1015T 3045C>G SKCM-US 10 97096734 97096734 single base substitution G C synonymous_variant T1061T 3183C>G SKCM-US 10 97096790 97096790 single base substitution G A downstream_gene_variant SKCM-US 10 97096790 97096790 single base substitution G A intron_variant SKCM-US 10 97096790 97096790 single base substitution G A missense_variant R1043C 3127C>T SKCM-US 10 97096790 97096790 single base substitution G A missense_variant R997C 2989C>T SKCM-US 10 97096831 97096831 single base substitution G A downstream_gene_variant SKCM-US 10 97096831 97096831 single base substitution G A intron_variant SKCM-US 10 97096831 97096831 single base substitution G A missense_variant P1029L 3086C>T SKCM-US 10 97096831 97096831 single base substitution G A missense_variant P983L 2948C>T SKCM-US 10 97096832 97096832 single base substitution G A downstream_gene_variant SKCM-US 10 97096832 97096832 single base substitution G A intron_variant SKCM-US 10 97096832 97096832 single base substitution G A missense_variant P1029S 3085C>T SKCM-US 10 97096832 97096832 single base substitution G A missense_variant P983S 2947C>T SKCM-US 10 97096854 97096854 single base substitution G A downstream_gene_variant SKCM-US 10 97096854 97096854 single base substitution G A intron_variant SKCM-US 10 97096854 97096854 single base substitution G A synonymous_variant L1021L 3063C>T SKCM-US 10 97096854 97096854 single base substitution G A synonymous_variant L975L 2925C>T SKCM-US 10 97096857 97096857 single base substitution G A downstream_gene_variant SKCM-US 10 97096857 97096857 single base substitution G A intron_variant SKCM-US 10 97096857 97096857 single base substitution G A synonymous_variant H1020H 3060C>T SKCM-US 10 97096857 97096857 single base substitution G A synonymous_variant H974H 2922C>T SKCM-US 10 97096895 97096895 single base substitution G A downstream_gene_variant SKCM-US 10 97096895 97096895 single base substitution G A intron_variant SKCM-US 10 97096895 97096895 single base substitution G A missense_variant P1008S 3022C>T SKCM-US 10 97096895 97096895 single base substitution G A missense_variant P962S 2884C>T SKCM-US 10 97096931 97096931 single base substitution G A downstream_gene_variant SKCM-US 10 97096931 97096931 single base substitution G A intron_variant SKCM-US 10 97096931 97096931 single base substitution G A missense_variant P950S 2848C>T SKCM-US 10 97096931 97096931 single base substitution G A missense_variant P996S 2986C>T SKCM-US 10 97097017 97097017 single base substitution G A downstream_gene_variant SKCM-US 10 97097017 97097017 single base substitution G A intron_variant SKCM-US 10 97097017 97097017 single base substitution G A missense_variant P921L 2762C>T SKCM-US 10 97097017 97097017 single base substitution G A missense_variant P967L 2900C>T SKCM-US 10 97097047 97097047 single base substitution G A downstream_gene_variant SKCM-US 10 97097047 97097047 single base substitution G A intron_variant SKCM-US 10 97097047 97097047 single base substitution G A missense_variant S911F 2732C>T SKCM-US 10 97097047 97097047 single base substitution G A missense_variant S957F 2870C>T SKCM-US 10 97101161 97101161 single base substitution G A downstream_gene_variant SKCM-US 10 97101161 97101161 single base substitution G A missense_variant P1111S 3331C>T SKCM-US 10 97101161 97101161 single base substitution G A missense_variant P501S 1501C>T SKCM-US 10 97101161 97101161 single base substitution G A missense_variant P598S 1792C>T SKCM-US 10 97101161 97101161 single base substitution G A missense_variant P628S 1882C>T SKCM-US 10 97101161 97101161 single base substitution G A missense_variant P633S 1897C>T SKCM-US 10 97101161 97101161 single base substitution G A missense_variant P663S 1987C>T SKCM-US 10 97101161 97101161 single base substitution G A missense_variant P702S 2104C>T SKCM-US 10 97101161 97101161 single base substitution G A missense_variant P805S 2413C>T SKCM-US 10 97101161 97101161 single base substitution G A missense_variant P821S 2461C>T SKCM-US 10 97101161 97101161 single base substitution G A missense_variant P851S 2551C>T SKCM-US 10 97101161 97101161 single base substitution G A missense_variant P873S 2617C>T SKCM-US 10 97111052 97111052 single base substitution G A exon_variant SKCM-US 10 97111052 97111052 single base substitution G A intron_variant SKCM-US 10 97111052 97111052 single base substitution G A missense_variant P1026S 3076C>T SKCM-US 10 97111052 97111052 single base substitution G A missense_variant P513S 1537C>T SKCM-US 10 97111052 97111052 single base substitution G A missense_variant P543S 1627C>T SKCM-US 10 97111052 97111052 single base substitution G A missense_variant P578S 1732C>T SKCM-US 10 97111052 97111052 single base substitution G A missense_variant P617S 1849C>T SKCM-US 10 97111052 97111052 single base substitution G A missense_variant P720S 2158C>T SKCM-US 10 97111052 97111052 single base substitution G A missense_variant P736S 2206C>T SKCM-US 10 97111052 97111052 single base substitution G A missense_variant P766S 2296C>T SKCM-US 10 97111052 97111052 single base substitution G A missense_variant P788S 2362C>T SKCM-US 10 97143773 97143773 single base substitution G A downstream_gene_variant SKCM-US 10 97143773 97143773 single base substitution G A exon_variant SKCM-US 10 97143773 97143773 single base substitution G A missense_variant R292C 874C>T SKCM-US 10 97143773 97143773 single base substitution G A missense_variant R293C 877C>T SKCM-US 10 97143773 97143773 single base substitution G A missense_variant R302C 904C>T SKCM-US 10 97143773 97143773 single base substitution G A missense_variant R334C 1000C>T SKCM-US 10 97143773 97143773 single base substitution G A missense_variant R371C 1111C>T SKCM-US 10 97143773 97143773 single base substitution G A missense_variant R388C 1162C>T SKCM-US 10 97143773 97143773 single base substitution G A missense_variant R425C 1273C>T SKCM-US 10 97143773 97143773 single base substitution G A missense_variant R457C 1369C>T SKCM-US 10 97143773 97143773 single base substitution G A missense_variant R473C 1417C>T SKCM-US 10 97143773 97143773 single base substitution G A missense_variant R503C 1507C>T SKCM-US 10 97143773 97143773 single base substitution G A missense_variant R525C 1573C>T SKCM-US 10 97170471 97170471 single base substitution G A downstream_gene_variant SKCM-US 10 97170471 97170471 single base substitution G A exon_variant SKCM-US 10 97170471 97170471 single base substitution G A missense_variant P128S 382C>T SKCM-US 10 97170471 97170471 single base substitution G A missense_variant P137S 409C>T SKCM-US 10 97170471 97170471 single base substitution G A missense_variant P160S 478C>T SKCM-US 10 97170471 97170471 single base substitution G A missense_variant P169S 505C>T SKCM-US 10 97170471 97170471 single base substitution G A missense_variant P223S 667C>T SKCM-US 10 97170471 97170471 single base substitution G A missense_variant P260S 778C>T SKCM-US 10 97170471 97170471 single base substitution G A missense_variant P283S 847C>T SKCM-US 10 97170471 97170471 single base substitution G A missense_variant P292S 874C>T SKCM-US 10 97170471 97170471 single base substitution G A missense_variant P97S 289C>T SKCM-US 10 97192238 97192238 single base substitution G A exon_variant SKCM-US 10 97192238 97192238 single base substitution G A missense_variant P58S 172C>T SKCM-US 10 97192238 97192238 single base substitution G A missense_variant P90S 268C>T SKCM-US 10 97192281 97192281 single base substitution G A exon_variant SKCM-US 10 97192281 97192281 single base substitution G A synonymous_variant A43A 129C>T SKCM-US 10 97192281 97192281 single base substitution G A synonymous_variant A75A 225C>T STAD-US 10 97078078 97078078 insertion of <=200bp - A frameshift_variant V1129V? STAD-US 10 97078078 97078078 insertion of <=200bp - A frameshift_variant V1244V? STAD-US 10 97078078 97078078 insertion of <=200bp - A frameshift_variant V1270V? STAD-US 10 97078078 97078078 insertion of <=200bp - A frameshift_variant V1272V? STAD-US 10 97078078 97078078 insertion of <=200bp - A frameshift_variant V662V? STAD-US 10 97078078 97078078 insertion of <=200bp - A frameshift_variant V759V? STAD-US 10 97078078 97078078 insertion of <=200bp - A frameshift_variant V789V? STAD-US 10 97078078 97078078 insertion of <=200bp - A frameshift_variant V794V? STAD-US 10 97078078 97078078 insertion of <=200bp - A frameshift_variant V824V? STAD-US 10 97078078 97078078 insertion of <=200bp - A frameshift_variant V883V? STAD-US 10 97078078 97078078 insertion of <=200bp - A frameshift_variant V982V? STAD-US 10 97096319 97096319 single base substitution C T intron_variant STAD-US 10 97096319 97096319 single base substitution C T missense_variant E1059K 3175G>A STAD-US 10 97096319 97096319 single base substitution C T missense_variant E1154K 3460G>A STAD-US 10 97096319 97096319 single base substitution C T missense_variant E1200K 3598G>A STAD-US 10 97096789 97096789 single base substitution C T downstream_gene_variant STAD-US 10 97096789 97096789 single base substitution C T intron_variant STAD-US 10 97096789 97096789 single base substitution C T missense_variant R1043H 3128G>A STAD-US 10 97096789 97096789 single base substitution C T missense_variant R997H 2990G>A STAD-US 10 97101123 97101123 single base substitution T C downstream_gene_variant STAD-US 10 97101123 97101123 single base substitution T C synonymous_variant P1123P 3369A>G STAD-US 10 97101123 97101123 single base substitution T C synonymous_variant P513P 1539A>G STAD-US 10 97101123 97101123 single base substitution T C synonymous_variant P610P 1830A>G STAD-US 10 97101123 97101123 single base substitution T C synonymous_variant P640P 1920A>G STAD-US 10 97101123 97101123 single base substitution T C synonymous_variant P645P 1935A>G STAD-US 10 97101123 97101123 single base substitution T C synonymous_variant P675P 2025A>G STAD-US 10 97101123 97101123 single base substitution T C synonymous_variant P714P 2142A>G STAD-US 10 97101123 97101123 single base substitution T C synonymous_variant P817P 2451A>G STAD-US 10 97101123 97101123 single base substitution T C synonymous_variant P833P 2499A>G STAD-US 10 97101123 97101123 single base substitution T C synonymous_variant P863P 2589A>G STAD-US 10 97101123 97101123 single base substitution T C synonymous_variant P885P 2655A>G STAD-US 10 97117446 97117446 single base substitution G A exon_variant STAD-US 10 97117446 97117446 single base substitution G A synonymous_variant D396D 1188C>T STAD-US 10 97117446 97117446 single base substitution G A synonymous_variant D437D 1311C>T STAD-US 10 97117446 97117446 single base substitution G A synonymous_variant D457D 1371C>T STAD-US 10 97117446 97117446 single base substitution G A synonymous_variant D467D 1401C>T STAD-US 10 97117446 97117446 single base substitution G A synonymous_variant D502D 1506C>T STAD-US 10 97117446 97117446 single base substitution G A synonymous_variant D528D 1584C>T STAD-US 10 97117446 97117446 single base substitution G A synonymous_variant D541D 1623C>T STAD-US 10 97117446 97117446 single base substitution G A synonymous_variant D644D 1932C>T STAD-US 10 97117446 97117446 single base substitution G A synonymous_variant D660D 1980C>T STAD-US 10 97117446 97117446 single base substitution G A synonymous_variant D690D 2070C>T STAD-US 10 97117446 97117446 single base substitution G A synonymous_variant D712D 2136C>T STAD-US 10 97117446 97117446 single base substitution G A upstream_gene_variant STAD-US 10 97135731 97135731 single base substitution G A intron_variant STAD-US 10 97135731 97135731 single base substitution G A missense_variant P368L 1103C>T STAD-US 10 97135731 97135731 single base substitution G A missense_variant P378L 1133C>T STAD-US 10 97135731 97135731 single base substitution G A missense_variant P447L 1340C>T STAD-US 10 97135731 97135731 single base substitution G A missense_variant P464L 1391C>T STAD-US 10 97135731 97135731 single base substitution G A missense_variant P533L 1598C>T STAD-US 10 97135731 97135731 single base substitution G A missense_variant P549L 1646C>T STAD-US 10 97135731 97135731 single base substitution G A missense_variant P579L 1736C>T STAD-US 10 97135731 97135731 single base substitution G A missense_variant P601L 1802C>T STAD-US 10 97141493 97141493 single base substitution G A downstream_gene_variant STAD-US 10 97141493 97141493 single base substitution G A exon_variant STAD-US 10 97141493 97141493 single base substitution G A synonymous_variant S323S 969C>T STAD-US 10 97141493 97141493 single base substitution G A synonymous_variant S324S 972C>T STAD-US 10 97141493 97141493 single base substitution G A synonymous_variant S333S 999C>T STAD-US 10 97141493 97141493 single base substitution G A synonymous_variant S365S 1095C>T STAD-US 10 97141493 97141493 single base substitution G A synonymous_variant S402S 1206C>T STAD-US 10 97141493 97141493 single base substitution G A synonymous_variant S419S 1257C>T STAD-US 10 97141493 97141493 single base substitution G A synonymous_variant S456S 1368C>T STAD-US 10 97141493 97141493 single base substitution G A synonymous_variant S488S 1464C>T STAD-US 10 97141493 97141493 single base substitution G A synonymous_variant S504S 1512C>T STAD-US 10 97141493 97141493 single base substitution G A synonymous_variant S534S 1602C>T STAD-US 10 97141493 97141493 single base substitution G A synonymous_variant S556S 1668C>T STAD-US 10 97158896 97158896 single base substitution C T exon_variant STAD-US 10 97158896 97158896 single base substitution C T missense_variant E151K 451G>A STAD-US 10 97158896 97158896 single base substitution C T missense_variant E181K 541G>A STAD-US 10 97158896 97158896 single base substitution C T missense_variant E182K 544G>A STAD-US 10 97158896 97158896 single base substitution C T missense_variant E191K 571G>A STAD-US 10 97158896 97158896 single base substitution C T missense_variant E214K 640G>A STAD-US 10 97158896 97158896 single base substitution C T missense_variant E223K 667G>A STAD-US 10 97158896 97158896 single base substitution C T missense_variant E277K 829G>A STAD-US 10 97158896 97158896 single base substitution C T missense_variant E314K 940G>A STAD-US 10 97158896 97158896 single base substitution C T missense_variant E337K 1009G>A STAD-US 10 97158896 97158896 single base substitution C T missense_variant E346K 1036G>A STAD-US 10 97174285 97174285 single base substitution G A downstream_gene_variant STAD-US 10 97174285 97174285 single base substitution G A exon_variant STAD-US 10 97174285 97174285 single base substitution G A intron_variant STAD-US 10 97174285 97174285 single base substitution G A missense_variant S190L 569C>T STAD-US 10 97174285 97174285 single base substitution G A missense_variant S227L 680C>T STAD-US 10 97174285 97174285 single base substitution G A missense_variant S250L 749C>T STAD-US 10 97174285 97174285 single base substitution G A missense_variant S259L 776C>T STAD-US 10 97174285 97174285 single base substitution G A upstream_gene_variant STAD-US 10 97174384 97174384 single base substitution C T downstream_gene_variant STAD-US 10 97174384 97174384 single base substitution C T exon_variant STAD-US 10 97174384 97174384 single base substitution C T intron_variant STAD-US 10 97174384 97174384 single base substitution C T missense_variant R157H 470G>A STAD-US 10 97174384 97174384 single base substitution C T missense_variant R194H 581G>A STAD-US 10 97174384 97174384 single base substitution C T missense_variant R217H 650G>A STAD-US 10 97174384 97174384 single base substitution C T missense_variant R226H 677G>A STAD-US 10 97174384 97174384 single base substitution C T upstream_gene_variant STAD-US 10 97194450 97194450 single base substitution C T intron_variant STAD-US 10 97194450 97194450 single base substitution C T missense_variant R34H 101G>A STAD-US 10 97194454 97194454 single base substitution C T intron_variant STAD-US 10 97194454 97194454 single base substitution C T missense_variant A33T 97G>A THCA-SA 10 97131796 97131796 deletion of <=200bp T - frameshift_variant K468 THCA-SA 10 97131796 97131796 deletion of <=200bp T - frameshift_variant K537 THCA-SA 10 97131796 97131796 deletion of <=200bp T - frameshift_variant K553 THCA-SA 10 97131796 97131796 deletion of <=200bp T - frameshift_variant K583 THCA-SA 10 97131796 97131796 deletion of <=200bp T - frameshift_variant K605 THCA-SA 10 97131796 97131796 deletion of <=200bp T - intron_variant THCA-SA 10 97141523 97141523 single base substitution G A downstream_gene_variant THCA-SA 10 97141523 97141523 single base substitution G A exon_variant THCA-SA 10 97141523 97141523 single base substitution G A synonymous_variant D313D 939C>T THCA-SA 10 97141523 97141523 single base substitution G A synonymous_variant D314D 942C>T THCA-SA 10 97141523 97141523 single base substitution G A synonymous_variant D323D 969C>T THCA-SA 10 97141523 97141523 single base substitution G A synonymous_variant D355D 1065C>T THCA-SA 10 97141523 97141523 single base substitution G A synonymous_variant D392D 1176C>T THCA-SA 10 97141523 97141523 single base substitution G A synonymous_variant D409D 1227C>T THCA-SA 10 97141523 97141523 single base substitution G A synonymous_variant D446D 1338C>T THCA-SA 10 97141523 97141523 single base substitution G A synonymous_variant D478D 1434C>T THCA-SA 10 97141523 97141523 single base substitution G A synonymous_variant D494D 1482C>T THCA-SA 10 97141523 97141523 single base substitution G A synonymous_variant D524D 1572C>T THCA-SA 10 97141523 97141523 single base substitution G A synonymous_variant D546D 1638C>T UCEC-US 10 97081759 97081759 single base substitution C T missense_variant R1079Q 3236G>A UCEC-US 10 97081759 97081759 single base substitution C T missense_variant R1194Q 3581G>A UCEC-US 10 97081759 97081759 single base substitution C T missense_variant R1220Q 3659G>A UCEC-US 10 97081759 97081759 single base substitution C T missense_variant R1222Q 3665G>A UCEC-US 10 97081759 97081759 single base substitution C T missense_variant R612Q 1835G>A UCEC-US 10 97081759 97081759 single base substitution C T missense_variant R709Q 2126G>A UCEC-US 10 97081759 97081759 single base substitution C T missense_variant R739Q 2216G>A UCEC-US 10 97081759 97081759 single base substitution C T missense_variant R744Q 2231G>A UCEC-US 10 97081759 97081759 single base substitution C T missense_variant R774Q 2321G>A UCEC-US 10 97081759 97081759 single base substitution C T missense_variant R833Q 2498G>A UCEC-US 10 97081759 97081759 single base substitution C T missense_variant R932Q 2795G>A UCEC-US 10 97082509 97082509 single base substitution G A intron_variant UCEC-US 10 97082509 97082509 single base substitution G A synonymous_variant S1185S 3555C>T UCEC-US 10 97082509 97082509 single base substitution G A synonymous_variant S824S 2472C>T UCEC-US 10 97082509 97082509 single base substitution G T intron_variant UCEC-US 10 97082509 97082509 single base substitution G T missense_variant S1185R 3555C>A UCEC-US 10 97082509 97082509 single base substitution G T missense_variant S824R 2472C>A UCEC-US 10 97082550 97082550 single base substitution A G intron_variant UCEC-US 10 97082550 97082550 single base substitution A G missense_variant S1172P 3514T>C UCEC-US 10 97082550 97082550 single base substitution A G missense_variant S811P 2431T>C UCEC-US 10 97096604 97096604 single base substitution A G downstream_gene_variant UCEC-US 10 97096604 97096604 single base substitution A G intron_variant UCEC-US 10 97096604 97096604 single base substitution A G missense_variant S1059P 3175T>C UCEC-US 10 97096604 97096604 single base substitution A G missense_variant S1105P 3313T>C UCEC-US 10 97096778 97096778 single base substitution G A downstream_gene_variant UCEC-US 10 97096778 97096778 single base substitution G A intron_variant UCEC-US 10 97096778 97096778 single base substitution G A stop_gained R1001* 3001C>T UCEC-US 10 97096778 97096778 single base substitution G A stop_gained R1047* 3139C>T UCEC-US 10 97096798 97096798 single base substitution C A downstream_gene_variant UCEC-US 10 97096798 97096798 single base substitution C A intron_variant UCEC-US 10 97096798 97096798 single base substitution C A missense_variant W1040L 3119G>T UCEC-US 10 97096798 97096798 single base substitution C A missense_variant W994L 2981G>T UCEC-US 10 97096881 97096881 single base substitution C A downstream_gene_variant UCEC-US 10 97096881 97096881 single base substitution C A intron_variant UCEC-US 10 97096881 97096881 single base substitution C A missense_variant E1012D 3036G>T UCEC-US 10 97096881 97096881 single base substitution C A missense_variant E966D 2898G>T UCEC-US 10 97106200 97106200 single base substitution C T exon_variant UCEC-US 10 97106200 97106200 single base substitution C T missense_variant A1058T 3172G>A UCEC-US 10 97106200 97106200 single base substitution C T missense_variant A172T 514G>A UCEC-US 10 97106200 97106200 single base substitution C T missense_variant A448T 1342G>A UCEC-US 10 97106200 97106200 single base substitution C T missense_variant A545T 1633G>A UCEC-US 10 97106200 97106200 single base substitution C T missense_variant A575T 1723G>A UCEC-US 10 97106200 97106200 single base substitution C T missense_variant A580T 1738G>A UCEC-US 10 97106200 97106200 single base substitution C T missense_variant A610T 1828G>A UCEC-US 10 97106200 97106200 single base substitution C T missense_variant A649T 1945G>A UCEC-US 10 97106200 97106200 single base substitution C T missense_variant A752T 2254G>A UCEC-US 10 97106200 97106200 single base substitution C T missense_variant A768T 2302G>A UCEC-US 10 97106200 97106200 single base substitution C T missense_variant A798T 2392G>A UCEC-US 10 97106200 97106200 single base substitution C T missense_variant A820T 2458G>A UCEC-US 10 97111111 97111111 single base substitution C T exon_variant UCEC-US 10 97111111 97111111 single base substitution C T intron_variant UCEC-US 10 97111111 97111111 single base substitution C T missense_variant R1006Q 3017G>A UCEC-US 10 97111111 97111111 single base substitution C T missense_variant R493Q 1478G>A UCEC-US 10 97111111 97111111 single base substitution C T missense_variant R523Q 1568G>A UCEC-US 10 97111111 97111111 single base substitution C T missense_variant R558Q 1673G>A UCEC-US 10 97111111 97111111 single base substitution C T missense_variant R597Q 1790G>A UCEC-US 10 97111111 97111111 single base substitution C T missense_variant R700Q 2099G>A UCEC-US 10 97111111 97111111 single base substitution C T missense_variant R716Q 2147G>A UCEC-US 10 97111111 97111111 single base substitution C T missense_variant R746Q 2237G>A UCEC-US 10 97111111 97111111 single base substitution C T missense_variant R768Q 2303G>A UCEC-US 10 97114661 97114661 single base substitution C T exon_variant UCEC-US 10 97114661 97114661 single base substitution C T missense_variant R161Q 482G>A UCEC-US 10 97114661 97114661 single base substitution C T missense_variant R437Q 1310G>A UCEC-US 10 97114661 97114661 single base substitution C T missense_variant R478Q 1433G>A UCEC-US 10 97114661 97114661 single base substitution C T missense_variant R508Q 1523G>A UCEC-US 10 97114661 97114661 single base substitution C T missense_variant R543Q 1628G>A UCEC-US 10 97114661 97114661 single base substitution C T missense_variant R569Q 1706G>A UCEC-US 10 97114661 97114661 single base substitution C T missense_variant R582Q 1745G>A UCEC-US 10 97114661 97114661 single base substitution C T missense_variant R685Q 2054G>A UCEC-US 10 97114661 97114661 single base substitution C T missense_variant R701Q 2102G>A UCEC-US 10 97114661 97114661 single base substitution C T missense_variant R731Q 2192G>A UCEC-US 10 97114661 97114661 single base substitution C T missense_variant R753Q 2258G>A UCEC-US 10 97114661 97114661 single base substitution C T missense_variant R991Q 2972G>A UCEC-US 10 97135757 97135757 single base substitution G T intron_variant UCEC-US 10 97135757 97135757 single base substitution G T missense_variant F359L 1077C>A UCEC-US 10 97135757 97135757 single base substitution G T missense_variant F369L 1107C>A UCEC-US 10 97135757 97135757 single base substitution G T missense_variant F438L 1314C>A UCEC-US 10 97135757 97135757 single base substitution G T missense_variant F455L 1365C>A UCEC-US 10 97135757 97135757 single base substitution G T missense_variant F524L 1572C>A UCEC-US 10 97135757 97135757 single base substitution G T missense_variant F540L 1620C>A UCEC-US 10 97135757 97135757 single base substitution G T missense_variant F570L 1710C>A UCEC-US 10 97135757 97135757 single base substitution G T missense_variant F592L 1776C>A UCEC-US 10 97143856 97143856 single base substitution G T exon_variant UCEC-US 10 97143856 97143856 single base substitution G T missense_variant S264Y 791C>A UCEC-US 10 97143856 97143856 single base substitution G T missense_variant S265Y 794C>A UCEC-US 10 97143856 97143856 single base substitution G T missense_variant S274Y 821C>A UCEC-US 10 97143856 97143856 single base substitution G T missense_variant S306Y 917C>A UCEC-US 10 97143856 97143856 single base substitution G T missense_variant S343Y 1028C>A UCEC-US 10 97143856 97143856 single base substitution G T missense_variant S360Y 1079C>A UCEC-US 10 97143856 97143856 single base substitution G T missense_variant S397Y 1190C>A UCEC-US 10 97143856 97143856 single base substitution G T missense_variant S429Y 1286C>A UCEC-US 10 97143856 97143856 single base substitution G T missense_variant S445Y 1334C>A UCEC-US 10 97143856 97143856 single base substitution G T missense_variant S475Y 1424C>A UCEC-US 10 97143856 97143856 single base substitution G T missense_variant S497Y 1490C>A UCEC-US 10 97144009 97144009 single base substitution G T exon_variant UCEC-US 10 97144009 97144009 single base substitution G T stop_gained S254* 761C>A UCEC-US 10 97144009 97144009 single base substitution G T stop_gained S255* 764C>A UCEC-US 10 97144009 97144009 single base substitution G T stop_gained S264* 791C>A UCEC-US 10 97144009 97144009 single base substitution G T stop_gained S296* 887C>A UCEC-US 10 97144009 97144009 single base substitution G T stop_gained S333* 998C>A UCEC-US 10 97144009 97144009 single base substitution G T stop_gained S350* 1049C>A UCEC-US 10 97144009 97144009 single base substitution G T stop_gained S387* 1160C>A UCEC-US 10 97144009 97144009 single base substitution G T stop_gained S419* 1256C>A UCEC-US 10 97144009 97144009 single base substitution G T stop_gained S435* 1304C>A UCEC-US 10 97144009 97144009 single base substitution G T stop_gained S465* 1394C>A UCEC-US 10 97144009 97144009 single base substitution G T stop_gained S487* 1460C>A UCEC-US 10 97170392 97170392 single base substitution C T downstream_gene_variant UCEC-US 10 97170392 97170392 single base substitution C T missense_variant R123Q 368G>A UCEC-US 10 97170392 97170392 single base substitution C T missense_variant R154Q 461G>A UCEC-US 10 97170392 97170392 single base substitution C T missense_variant R163Q 488G>A UCEC-US 10 97170392 97170392 single base substitution C T missense_variant R186Q 557G>A UCEC-US 10 97170392 97170392 single base substitution C T missense_variant R195Q 584G>A UCEC-US 10 97170392 97170392 single base substitution C T missense_variant R249Q 746G>A UCEC-US 10 97170392 97170392 single base substitution C T missense_variant R286Q 857G>A UCEC-US 10 97170392 97170392 single base substitution C T missense_variant R309Q 926G>A UCEC-US 10 97170392 97170392 single base substitution C T missense_variant R318Q 953G>A UCEC-US 10 97170392 97170392 single base substitution C T splice_region_variant UCEC-US 10 97170406 97170406 single base substitution G T downstream_gene_variant UCEC-US 10 97170406 97170406 single base substitution G T exon_variant UCEC-US 10 97170406 97170406 single base substitution G T synonymous_variant L118L 354C>A UCEC-US 10 97170406 97170406 single base substitution G T synonymous_variant L149L 447C>A UCEC-US 10 97170406 97170406 single base substitution G T synonymous_variant L158L 474C>A UCEC-US 10 97170406 97170406 single base substitution G T synonymous_variant L181L 543C>A UCEC-US 10 97170406 97170406 single base substitution G T synonymous_variant L190L 570C>A UCEC-US 10 97170406 97170406 single base substitution G T synonymous_variant L244L 732C>A UCEC-US 10 97170406 97170406 single base substitution G T synonymous_variant L281L 843C>A UCEC-US 10 97170406 97170406 single base substitution G T synonymous_variant L304L 912C>A UCEC-US 10 97170406 97170406 single base substitution G T synonymous_variant L313L 939C>A UCEC-US 10 97174294 97174294 single base substitution C T downstream_gene_variant UCEC-US 10 97174294 97174294 single base substitution C T exon_variant UCEC-US 10 97174294 97174294 single base substitution C T intron_variant UCEC-US 10 97174294 97174294 single base substitution C T missense_variant R187H 560G>A UCEC-US 10 97174294 97174294 single base substitution C T missense_variant R224H 671G>A UCEC-US 10 97174294 97174294 single base substitution C T missense_variant R247H 740G>A UCEC-US 10 97174294 97174294 single base substitution C T missense_variant R256H 767G>A UCEC-US 10 97174294 97174294 single base substitution C T upstream_gene_variant UCEC-US 10 97192255 97192255 single base substitution C T exon_variant UCEC-US 10 97192255 97192255 single base substitution C T missense_variant S52N 155G>A UCEC-US 10 97192255 97192255 single base substitution C T missense_variant S84N 251G>A UCEC-US 10 97194456 97194456 single base substitution C T intron_variant UCEC-US 10 97194456 97194456 single base substitution C T missense_variant R32H 95G>A UCEC-US 10 97197274 97197274 single base substitution C T exon_variant UCEC-US 10 97197274 97197274 single base substitution C T missense_variant A17T 49G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EI-6513-01 COSM3415394 c.1097G>C p.S366T Substitution - Missense 10:95384081-95384081 - BD137T COSM5504866 c.442-8A>G p.? Unknown 10:95414663-95414663 - CSCC-44-T COSM4560714 c.646G>A p.G216R Substitution - Missense 10:95410735-95410735 - CHEWS003 COSM4573926 c.1977A>C p.T659T Substitution - coding silent 10:95346411-95346411 - Esp66 COSM1742574 c.778+7G>T p.? Unknown 10:95406111-95406111 - TCGA-33-4566-01 COSM685993 c.1371G>A p.S457S Substitution - coding silent 10:95375994-95375994 - TCGA-C8-A132-01 COSM428193 c.970G>A p.D324N Substitution - Missense 10:95397265-95397265 - PD4120a COSM164529 c.1517C>G p.S506C Substitution - Missense 10:95357795-95357795 - SS6003149 COSM4091225 c.1789C>T p.R597* Substitution - Nonsense 10:95351355-95351355 - 16T COSM3709968 c.2639G>A p.G880E Substitution - Missense 10:95318331-95318331 - LAU165 COSM235422 c.546C>T p.A182A Substitution - coding silent 10:95414551-95414551 - TCGA-AX-A05Z-01 COSM171200 c.1745G>A p.R582Q Substitution - Missense 10:95354904-95354904 - T3155 COSM4729016 c.310_311delCC p.P104fs*7 Deletion - Frameshift 10:95422207-95422208 - TCGA-HU-A4H4-01 COSM3723670 c.97G>A p.A33T Substitution - Missense 10:95434697-95434697 - T1743 COSM3981214 c.2610C>T p.I870I Substitution - coding silent 10:95318360-95318360 - TCGA-AX-A05Z-01 COSM921807 c.251G>A p.S84N Substitution - Missense 10:95432498-95432498 - HCC78 COSM1603886 c.2388C>T p.S796S Substitution - coding silent 10:95339163-95339163 - D3 COSM5006734 c.84C>T p.A28A Substitution - coding silent 10:95434710-95434710 - AOCS-086-1-5 COSM3981214 c.2610C>T p.I870I Substitution - coding silent 10:95318360-95318360 - WSU-HN6 COSM4602094 c.793A>G p.R265G Substitution - Missense 10:95399175-95399175 - RH30SJ_ COSM4985500 c.502A>G p.T168A Substitution - Missense 10:95414595-95414595 - T3024 COSM4729014 c.447G>C p.W149C Substitution - Missense 10:95414650-95414650 - HCC1954 COSM33611 c.472G>A p.A158T Substitution - Missense 10:95414625-95414625 - 587284 COSM1227117 c.1447G>T p.E483* Substitution - Nonsense 10:95371995-95371995 - TCGA-AP-A056-01 COSM921780 c.2498G>A p.R833Q Substitution - Missense 10:95322002-95322002 - HCC64T COSM1603891 c.359C>A p.A120D Substitution - Missense 10:95422043-95422043 - TCGA-66-2744-01 COSM685999 c.2322G>T p.V774V Substitution - coding silent 10:95339229-95339229 - LUAD-GU4I3 COSM341572 c.2032G>A p.D678N Substitution - Missense 10:95341629-95341629 - TCGA-D1-A16I-01 COSM921793 c.1575C>A p.S525R Substitution - Missense 10:95357737-95357737 - P12 COSM147001 c.1263C>T p.Y421Y Substitution - coding silent 10:95381730-95381730 - TCGA-AA-A010-01 COSM198959 c.1365C>A p.F455L Substitution - Missense 10:95376000-95376000 - TCGA-BR-A4QL-01 COSM4016893 c.1623C>T p.D541D Substitution - coding silent 10:95357689-95357689 - TCGA-AP-A051-01 COSM921781 c.2472C>A p.S824R Substitution - Missense 10:95322752-95322752 - T155 COSM1177155 c.1744C>T p.R582* Substitution - Nonsense 10:95354905-95354905 - TCGA-AX-A05Z-01 COSM198959 c.1365C>A p.F455L Substitution - Missense 10:95376000-95376000 - ESCC-153T COSM3935239 c.625G>A p.E209K Substitution - Missense 10:95410756-95410756 - TCGA-18-3409-01 COSM685982 c.123C>T p.I41I Substitution - coding silent 10:95434671-95434671 - CSCC-44-T COSM4510741 c.639C>T p.S213S Substitution - coding silent 10:95410742-95410742 - 587336 COSM1227114 c.2663G>A p.R888K Substitution - Missense 10:95315114-95315114 - TCGA-AX-A0J1-01 COSM921805 c.560G>A p.R187H Substitution - Missense 10:95414537-95414537 - HCC20 COSM1603893 c.329-9A>C p.? Unknown 10:95422082-95422082 - S00946 COSM315497 c.1495G>C p.E499Q Substitution - Missense 10:95367663-95367663 - ESO-0115 COSM1266424 c.1336G>A p.D446N Substitution - Missense 10:95376029-95376029 - TCGA-FW-A3R5-06 COSM3868162 c.225C>T p.A75A Substitution - coding silent 10:95432524-95432524 - 234 COSM3731079 c.2620A>G p.M874V Substitution - Missense 10:95318350-95318350 - PDA_080 COSM5002438 c.82G>T p.A28S Substitution - Missense 10:95434712-95434712 - 2492701 COSM5715953 c.699C>T p.P233P Substitution - coding silent 10:95410682-95410682 - LUAD-RT-S01702 COSM378940 c.95G>A p.R32H Substitution - Missense 10:95434699-95434699 - AOCS-167-16-X COSM3981220 c.192C>G p.I64M Substitution - Missense 10:95432557-95432557 - TCGA-FW-A3R5-06 COSM3868158 c.667C>T p.P223S Substitution - Missense 10:95410714-95410714 - 49M COSM5593226 c.949C>T p.R317W Substitution - Missense 10:95399019-95399019 - AOCS-055-1-7 COSM3981218 c.301+8G>A p.? Unknown 10:95432440-95432440 - YURAY COSM5371388 c.1523A>G p.N508S Substitution - Missense 10:95357789-95357789 - PD5925a COSM5792844 c.76+1G>T p.? Unknown 10:95437489-95437489 - HCC4T COSM1603895 c.301+5G>A p.? Unknown 10:95432443-95432443 - TCGA-BC-A69H-01 COSM4919077 c.2095G>A p.E699K Substitution - Missense 10:95341566-95341566 - TCGA-BH-A0B4-01 COSM428191 c.1213G>A p.D405N Substitution - Missense 10:95381780-95381780 - TCGA-DR-A0ZM-01 COSM458766 c.563G>C p.R188T Substitution - Missense 10:95414534-95414534 - P12 COSM4985500 c.502A>G p.T168A Substitution - Missense 10:95414595-95414595 - 2492700 COSM5715953 c.699C>T p.P233P Substitution - coding silent 10:95410682-95410682 - S01366 COSM5667940 c.1816G>C p.D606H Substitution - Missense 10:95351328-95351328 - TCGA-AP-A056-01 COSM921803 c.732C>A p.L244L Substitution - coding silent 10:95410649-95410649 - BN02T COSM1603899 c.76+9C>G p.? Unknown 10:95437481-95437481 - PT46 COSM5929245 c.1738T>C p.F580L Substitution - Missense 10:95354911-95354911 - HCC78T COSM1603886 c.2388C>T p.S796S Substitution - coding silent 10:95339163-95339163 - 14D COSM1235149 c.605A>G p.D202G Substitution - Missense 10:95410776-95410776 - TCGA-D1-A101-01 COSM921799 c.760C>T p.R254* Substitution - Nonsense 10:95406136-95406136 - TCGA-BH-A0HA-01 COSM428197 c.678C>T p.S226S Substitution - coding silent 10:95410703-95410703 - TCGA-FT-A3EE-01 COSM3791055 c.1278C>A p.G426G Substitution - coding silent 10:95381715-95381715 - 0006_CRUK_PC_0006_T1_DNA COSM3849491 c.2528C>T p.S843L Substitution - Missense 10:95321972-95321972 - HX13T COSM1603895 c.301+5G>A p.? Unknown 10:95432443-95432443 - C0079T COSM4165592 c.1982A>T p.K661M Substitution - Missense 10:95346406-95346406 - BICR_22 COSM1971146 c.1049C>T p.S350L Substitution - Missense 10:95384252-95384252 - TCGA-B7-5818-01 COSM4016899 c.829G>A p.E277K Substitution - Missense 10:95399139-95399139 - HCC058T COSM5804146 c.2558A>T p.Y853F Substitution - Missense 10:95318412-95318412 - TCGA-D1-A16X-01 COSM167776 c.1790G>A p.R597Q Substitution - Missense 10:95351354-95351354 - TCGA-A3-3370-01 COSM466130 c.1363T>C p.F455L Substitution - Missense 10:95376002-95376002 - 2497781 COSM5750993 c.2366T>C p.M789T Substitution - Missense 10:95339185-95339185 - AOCS-167-3-2 COSM3981220 c.192C>G p.I64M Substitution - Missense 10:95432557-95432557 - BN02 COSM1603899 c.76+9C>G p.? Unknown 10:95437481-95437481 - CSCC-27-T COSM4509330 c.596C>T p.S199L Substitution - Missense 10:95414501-95414501 - TCGA-AA-A010-01 COSM285263 c.1030C>A p.L344M Substitution - Missense 10:95384271-95384271 - PTC_285 COSM5959012 c.1403delA p.K468fs*45 Deletion - Frameshift 10:95372039-95372039 - SW620 COSM1971128 c.1344G>A p.K448K Substitution - coding silent 10:95376021-95376021 - CSCC-6-T COSM4570362 c.2134T>C p.L712L Substitution - coding silent 10:95341374-95341374 - CSCC-44-T COSM4481389 c.1990C>T p.P664S Substitution - Missense 10:95341671-95341671 - TCGA-22-5480-01 COSM685997 c.1445G>C p.R482T Substitution - Missense 10:95371997-95371997 - TCGA-AP-A059-01 COSM921789 c.1945G>A p.A649T Substitution - Missense 10:95346443-95346443 - PCSI_0007_Pa_X COSM216396 c.2320G>A p.V774M Substitution - Missense 10:95339231-95339231 - HN_62672 COSM129351 c.2396G>T p.R799L Substitution - Missense 10:95339155-95339155 - TCGA-B5-A11E-01 COSM921783 c.2431T>C p.S811P Substitution - Missense 10:95322793-95322793 - TCGA-B7-5816-01 COSM4016895 c.1391C>T p.P464L Substitution - Missense 10:95375974-95375974 - BN24 COSM1603897 c.100C>T p.R34C Substitution - Missense 10:95434694-95434694 - B59-Tumor COSM1745984 c.2158T>A p.Y720N Substitution - Missense 10:95341350-95341350 - sysucc-1135T COSM1971169 c.691G>A p.A231T Substitution - Missense 10:95410690-95410690 - TCGA-BR-8080-01 COSM4016897 c.1257C>T p.S419S Substitution - coding silent 10:95381736-95381736 - 19 COSM5747160 c.2282C>T p.P761L Substitution - Missense 10:95339269-95339269 - 2492727 COSM5725650 c.2266T>C p.Y756H Substitution - Missense 10:95339285-95339285 - TCGA-A8-A093-01 COSM428189 c.1974G>A p.Q658Q Substitution - coding silent 10:95346414-95346414 - TCGA-EE-A3AG-06 COSM3442140 c.1849C>T p.P617S Substitution - Missense 10:95351295-95351295 - 260211 COSM3725894 c.2265G>T p.W755C Substitution - Missense 10:95339286-95339286 - Pat_59_A COSM1603897 c.100C>T p.R34C Substitution - Missense 10:95434694-95434694 - HCC20T COSM1603893 c.329-9A>C p.? Unknown 10:95422082-95422082 - YUWAND COSM1702832 c.2059C>T p.H687Y Substitution - Missense 10:95341602-95341602 - SNU-175 COSM1971078 c.1692G>A p.S564S Substitution - coding silent 10:95354957-95354957 - HCC2998 COSM1675456 c.2186T>G p.F729C Substitution - Missense 10:95341322-95341322 - LAU108 COSM233467 c.1558C>T p.P520S Substitution - Missense 10:95357754-95357754 - CSCC-11-T COSM4568281 c.857T>A p.I286N Substitution - Missense 10:95399111-95399111 - I2L-P7-Tumor-Organoid COSM5360271 c.2094C>T p.I698I Substitution - coding silent 10:95341567-95341567 - TCGA-AZ-4315-01 COSM198959 c.1365C>A p.F455L Substitution - Missense 10:95376000-95376000 - sysucc-880T COSM5461890 c.328+7C>T p.? Unknown 10:95422183-95422183 - TCGA-EE-A3JB-06 COSM4898427 c.2489C>T p.A830V Substitution - Missense 10:95322011-95322011 - 24T COSM3709970 c.2548C>T p.Q850* Substitution - Nonsense 10:95318422-95318422 - AOCS-167-13-9 COSM3981220 c.192C>G p.I64M Substitution - Missense 10:95432557-95432557 - PCSI_0007_Pa_P COSM216396 c.2320G>A p.V774M Substitution - Missense 10:95339231-95339231 - TCGA-B5-A0JY-01 COSM921809 c.49G>A p.A17T Substitution - Missense 10:95437517-95437517 - RMS110_ COSM4985500 c.502A>G p.T168A Substitution - Missense 10:95414595-95414595 - C0076T COSM4165594 c.1759G>A p.D587N Substitution - Missense 10:95354890-95354890 - TCGA-FD-A3SS-01 COSM3791053 c.2213C>T p.S738F Substitution - Missense 10:95341295-95341295 - CSCC-10-T COSM4508537 c.77C>G p.A26G Substitution - Missense 10:95434717-95434717 - GC8_T COSM147001 c.1263C>T p.Y421Y Substitution - coding silent 10:95381730-95381730 - TCGA-EK-A2PG-01 COSM4819519 c.894G>A p.V298V Substitution - coding silent 10:95399074-95399074 - LP6005690-DNA_C01 COSM4409399 c.1843G>A p.V615I Substitution - Missense 10:95351301-95351301 - OSCC-GB_00160111 COSM3709968 c.2639G>A p.G880E Substitution - Missense 10:95318331-95318331 - TCGA-CH-5772-01 COSM1127972 c.212T>A p.V71E Substitution - Missense 10:95432537-95432537 - CSCC-31-T COSM4507455 c.539C>T p.P180L Substitution - Missense 10:95414558-95414558 - RMS77_ COSM4985500 c.502A>G p.T168A Substitution - Missense 10:95414595-95414595 - YULLON COSM1603897 c.100C>T p.R34C Substitution - Missense 10:95434694-95434694 - 0006_CRUK_PC_0006_T4_DNA COSM3849493 c.546C>A p.A182A Substitution - coding silent 10:95414551-95414551 - TCGA-CH-5765-01 COSM1127970 c.209C>T p.A70V Substitution - Missense 10:95432540-95432540 - MO_1012 COSM5571853 c.1844T>C p.V615A Substitution - Missense 10:95351300-95351300 - TCGA-AX-A0J1-01 COSM921782 c.2472C>T p.S824S Substitution - coding silent 10:95322752-95322752 - 2492702 COSM5715953 c.699C>T p.P233P Substitution - coding silent 10:95410682-95410682 - AOCS-086-3-2 COSM3981214 c.2610C>T p.I870I Substitution - coding silent 10:95318360-95318360 - TCGA-AC-A23H-01 COSM3808076 c.2101C>G p.L701V Substitution - Missense 10:95341407-95341407 - PD4119a COSM166193 c.600_603+5delTACCGTAAG p.? Unknown 10:95414489-95414497 - CSCC-56-T COSM4467357 c.1072C>T p.P358S Substitution - Missense 10:95384106-95384106 - OSCC-GB_00240111 COSM3709970 c.2548C>T p.Q850* Substitution - Nonsense 10:95318422-95318422 - HCA7 COSM4629674 c.1966A>G p.K656E Substitution - Missense 10:95346422-95346422 - CSCC-6-T COSM4467357 c.1072C>T p.P358S Substitution - Missense 10:95384106-95384106 - TCGA-DK-A3IU-01 COSM3791057 c.597G>A p.S199S Substitution - coding silent 10:95414500-95414500 - TCGA-21-1070-01 COSM685990 c.847G>A p.G283S Substitution - Missense 10:95399121-95399121 - TCGA-EE-A29D-06 COSM3442128 c.2595C>T p.L865L Substitution - coding silent 10:95318375-95318375 - TCGA-BR-8363-01 COSM4016901 c.569C>T p.S190L Substitution - Missense 10:95414528-95414528 - 2492703 COSM5715953 c.699C>T p.P233P Substitution - coding silent 10:95410682-95410682 - TCGA-37-3789-01 COSM685988 c.714C>G p.V238V Substitution - coding silent 10:95410667-95410667 - PCSI0007 COSM216396 c.2320G>A p.V774M Substitution - Missense 10:95339231-95339231 - 19 COSM1971026 c.2557T>C p.Y853H Substitution - Missense 10:95318413-95318413 - tumor_4128477 COSM5947460 c.2098-4T>G p.? Unknown 10:95341414-95341414 - TCGA-FW-A3R5-06 COSM3868156 c.1162C>T p.R388C Substitution - Missense 10:95384016-95384016 - 1N36-VS-1T36 COSM4974887 c.1730C>T p.T577M Substitution - Missense 10:95354919-95354919 - TCGA-AP-A051-01 COSM921795 c.1079C>A p.S360Y Substitution - Missense 10:95384099-95384099 - BN24T COSM1603897 c.100C>T p.R34C Substitution - Missense 10:95434694-95434694 - CSCC-49-T COSM4484553 c.2309C>T p.P770L Substitution - Missense 10:95339242-95339242 - sysucc-311T COSM5477353 c.1218G>T p.K406N Substitution - Missense 10:95381775-95381775 - 115 COSM5012215 c.2170A>G p.I724V Substitution - Missense 10:95341338-95341338 - ESO-107 COSM1266427 c.442-1G>A p.? Unknown 10:95414656-95414656 - TCGA-FS-A1ZT-06 COSM3442138 c.2104C>T p.P702S Substitution - Missense 10:95341404-95341404 - TCGA-AY-6197-01 COSM1350021 c.2282C>A p.P761Q Substitution - Missense 10:95339269-95339269 - RMS106_ COSM4985500 c.502A>G p.T168A Substitution - Missense 10:95414595-95414595 - SC_9047 COSM5548570 c.392C>T p.A131V Substitution - Missense 10:95422010-95422010 - ESCC_BICR_020T COSM5429131 c.603C>T p.T201T Substitution - coding silent 10:95414494-95414494 - Pat_41_B COSM5837542 c.852G>T p.K284N Substitution - Missense 10:95399116-95399116 - P07-837 COSM247516 c.1938G>T p.M646I Substitution - Missense 10:95346450-95346450 - HCC64 COSM1603891 c.359C>A p.A120D Substitution - Missense 10:95422043-95422043 - TCGA-FW-A3R5-06 COSM3868160 c.268C>T p.P90S Substitution - Missense 10:95432481-95432481 - PCSI_0269_Pa_P_526 COSM4961942 c.2269G>A p.E757K Substitution - Missense 10:95339282-95339282 - CSCC-41-T COSM4472420 c.1370C>T p.S457L Substitution - Missense 10:95375995-95375995 - HT115 COSM1971165 c.733T>G p.L245V Substitution - Missense 10:95410648-95410648 - C086 COSM5539517 c.1857C>T p.H619H Substitution - coding silent 10:95351287-95351287 - 201 COSM3723670 c.97G>A p.A33T Substitution - Missense 10:95434697-95434697 - ESCC_77 COSM5635304 c.730C>T p.L244F Substitution - Missense 10:95410651-95410651 - CN-AML-08-T COSM5425378 c.1227C>T p.D409D Substitution - coding silent 10:95381766-95381766 - OSCC-GB_00980111 COSM4882149 c.1936A>C p.M646L Substitution - Missense 10:95346452-95346452 - TCGA-CK-5915-01 COSM1350025 c.1552G>A p.G518R Substitution - Missense 10:95357760-95357760 - S00941 COSM5663602 c.1315G>C p.D439H Substitution - Missense 10:95376050-95376050 - P102 COSM5008673 c.281G>A p.R94Q Substitution - Missense 10:95432468-95432468 - TCGA-EW-A1J5-01 COSM1474908 c.1933G>A p.E645K Substitution - Missense 10:95351211-95351211 - TCGA-D1-A0ZS-01 COSM378940 c.95G>A p.R32H Substitution - Missense 10:95434699-95434699 - PT48 COSM5932688 c.1169C>T p.S390F Substitution - Missense 10:95384009-95384009 - TCGA-AP-A0LM-01 COSM921801 c.746G>A p.R249Q Substitution - Missense 10:95410635-95410635 - TCGA-66-2768-01 COSM685984 c.289G>A p.E97K Substitution - Missense 10:95432460-95432460 - TCGA-19-5950-01 COSM2156553 c.93A>T p.L31F Substitution - Missense 10:95434701-95434701 - S02400 COSM5699703 c.328+1G>T p.? Unknown 10:95422189-95422189 - TCGA-CG-4440-01 COSM1971176 c.470G>A p.R157H Substitution - Missense 10:95414627-95414627 - CSCC-31-T COSM4532151 c.1449G>A p.E483E Substitution - coding silent 10:95371993-95371993 - TCGA-BR-4201-01 COSM4016903 c.101G>A p.R34H Substitution - Missense 10:95434693-95434693 - TCGA-BR-6852-01 COSM4016891 c.2142A>G p.P714P Substitution - coding silent 10:95341366-95341366 - 2334201 COSM323516 c.799G>A p.V267M Substitution - Missense 10:95399169-95399169 - 0006_CRUK_PC_0006_T2_DNA COSM3849491 c.2528C>T p.S843L Substitution - Missense 10:95321972-95321972 - B59 COSM1745984 c.2158T>A p.Y720N Substitution - Missense 10:95341350-95341350 - TCGA-KR-A7K8-01 COSM4918259 c.58A>T p.S20C Substitution - Missense 10:95437508-95437508 - CSCC-47-T COSM4542196 c.313G>A p.E105K Substitution - Missense 10:95422205-95422205 - YUHEF COSM1702835 c.686C>T p.S229L Substitution - Missense 10:95410695-95410695 - sysucc-1163T COSM5458157 c.1833C>T p.R611R Substitution - coding silent 10:95351311-95351311 - HCC2998 COSM1675456 c.2186T>G p.F729C Substitution - Missense 10:95341322-95341322 - TCGA-AM-5821-01 COSM3686931 c.2435T>G p.L812W Substitution - Missense 10:95322789-95322789 - TCGA-AD-6889-01 COSM1350023 c.1799G>A p.R600H Substitution - Missense 10:95351345-95351345 - CSCC-6-T COSM4540687 c.2368G>A p.D790N Substitution - Missense 10:95339183-95339183 - TCGA-19-5950 COSM2156553 c.93A>T p.L31F Substitution - Missense 10:95434701-95434701 - TCGA-C5-A1BL-01 COSM4836921 c.1330G>C p.E444Q Substitution - Missense 10:95376035-95376035 - P85 COSM4985500 c.502A>G p.T168A Substitution - Missense 10:95414595-95414595 - TCGA-D8-A27G-01 COSM3808078 c.1585G>A p.E529K Substitution - Missense 10:95357727-95357727 - TCGA-BS-A0UV-01 COSM921797 c.1049C>A p.S350* Substitution - Nonsense 10:95384252-95384252 - HCC4 COSM1603895 c.301+5G>A p.? Unknown 10:95432443-95432443 - CN-AML-NR-08-Dx COSM5425378 c.1227C>T p.D409D Substitution - coding silent 10:95381766-95381766 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.38533;Hs.38546;Hs.38621 10q23.33 605264

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.810+34T>G 10 97174217 RCCC A G IntronicSNV . c.1-49880T>C 10 97250772 MB A G IntronicSNV . c.2866-629T>C 10 97097680 CLL A G Missense p.F570L c.1708T>C 10 97135759 RCCC A T Missense p.V71E c.212T>A 10 97192294 PRAD CACAC - IntronicDeletion . c.301+114_301+118delGTGTG 10 97192087 CM C A Missense p.G667W c.1999G>T 10 97117517 LUAD C A Missense p.R948L c.2843G>T 10 97098912 HNSC C A Missense p.W1040L c.3119G>T 10 97096798 UCEC C A Synonymous p.T237T c.711G>T 10 97174350 BRCA C A Synonymous p.V923V c.2769G>T 10 97098986 LUSC CC AA Missense p.G265* c.792_793delinsTT 10 97174268 LUAD C - Frameshift p.A1135Qfs*17 c.3403delG 10 97096514 STAD C G Missense p.E1012Q c.3034G>C 10 97096883 GBM C G Missense p.E356Q c.1066G>C 10 97158866 LUAD C G Missense p.E453Q c.1357G>C 10 97154371 ESCA C G Missense p.E648Q c.1942G>C 10 97127420 SCLC C G Missense p.G1142A c.3425G>C 10 97096492 OV C G Missense p.Q1164H c.3492G>C 10 97096425 LUAD C G Missense p.R597T c.1790G>C 10 97131754 LUSC C G Synonymous p.L1181L c.3543G>C 10 97096374 BRCA C T 3-UTRSNV . c.3876+7G>A 10 97074812 STAD C T IntronicSNV . c.1-33179G>A 10 97234071 PIA C T IntronicSNV . c.1-72083G>A 10 97272975 CLL C T Missense p.D393N c.1177G>A 10 97157022 BRCA C T Missense p.D520N c.1558G>A 10 97141537 BRCA C T Missense p.D561N c.1681G>A 10 97135786 ESCA C T Missense p.E1200K c.3598G>A 10 97096319 STAD C T Missense p.E97K c.289G>A 10 97192217 LUSC C T Missense p.G352S c.1054G>A 10 97158878 LUSC C T Missense p.R1043H c.3128G>A 10 97096789 STAD C T Missense p.R226H c.677G>A 10 97174384 STAD C T Missense p.R32H c.95G>A 10 97194456 UCEC C T Missense p.R34H c.101G>A 10 97194450 STAD C T Missense p.V1156M c.3466G>A 10 97096451 COREAD C T Missense p.V159I c.475G>A 10 97174586 BRCA C T Missense p.V336M c.1006G>A 10 97158926 SCLC C T Missense p.V923M c.2767G>A 10 97098988 PAAD C T Synonymous p.E389E c.1167G>A 10 97157032 LUAD C T Synonymous p.Q807Q c.2421G>A 10 97106171 BRCA C T Synonymous p.S268S c.804G>A 10 97174257 BLCA CTTACGGTA - SpliceDonorDeletion . c.807_810+5delTACCGTAAG 10 97174246 BRCA G A Missense p.A1217V c.3650C>T 10 97081768 CM G A Missense p.A227T c.679G>A 10 97174382 BRCA G A Missense p.A70V c.209C>T 10 97192297 PRAD G A Missense p.P1029L c.3086C>T 10 97096831 CM G A Missense p.P1029S c.3085C>T 10 97096832 CM G A Missense p.P1177L c.3530C>T 10 97096387 CM G A Missense p.P1215L c.3644C>T 10 97081774 LUAD G A Missense p.P579L c.1736C>T 10 97135731 STAD G A Missense p.P766S c.2296C>T 10 97111052 CM G A Missense p.P851S c.2551C>T 10 97101161 CM G A Missense p.P967L c.2900C>T 10 97097017 CM G A Missense p.P996S c.2986C>T 10 97096931 CM G A Missense p.R256C c.766C>T 10 97174295 HNSC G A Missense p.R365W c.1093C>T 10 97158839 BRCA G A Missense p.R529C c.1585C>T 10 97141510 CM G A Missense p.S1024L c.3071C>T 10 97096846 BLCA G A Missense p.S282F c.845C>T 10 97170500 CM G A Missense p.S957F c.2870C>T 10 97097047 CM G A Synonymous p.H1020H c.3060C>T 10 97096857 CM G A Synonymous p.L1021L c.3063C>T 10 97096854 CM G A Synonymous p.L1169L c.3507C>T 10 97096410 CM G A Synonymous p.L263L c.789C>T 10 97174272 LUAD G A Synonymous p.L962L c.2886C>T 10 97097031 CM G A Synonymous p.Y460Y c.1380C>T 10 97144023 LUAD G C IntronicSNV . c.3698+510C>G 10 97081210 PIA G C Missense p.P179R c.536C>G 10 97174525 LUSC G C Missense p.S655C c.1964C>G 10 97117552 BRCA G C Nonsense p.S1167* c.3500C>G 10 97096417 BRCA G C Synonymous p.T1061T c.3183C>G 10 97096734 CM G C Synonymous p.V307V c.921C>G 10 97170424 LUSC GG AA Missense p.P629L c.1886_1887delinsTT 10 97131101 CM GG AA Missense p.P979F c.2935_2936delinsTT 10 97096981 CM G T IntronicSNV . c.1360+3093C>A 10 97151275 CLL G T Synonymous p.R1195R c.3583C>A 10 97096334 NSCLC T A Missense p.L31F c.93A>T 10 97194458 GBM T A Missense p.Q1237H c.3711A>T 10 97078177 LUAD T A Missense p.S269C c.805A>T 10 97174256 HNSC T A Synonymous p.S1024S c.3072A>T 10 97096845 OV T C 3-UTRSNV . c.3876+3166A>G 10 97071653 HC T C Missense p.D408G c.1223A>G 10 97154832 LUAD T C Missense p.K816R c.2447A>G 10 97101418 STAD T C Synonymous p.P863P c.2589A>G 10 97101123 STAD T G 3-UTRSNV . c.3876+149A>C 10 97074670 RCCC T G Missense p.T206P c.616A>C 10 97174445 LUSC