Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 6 97489422 97489422 + Missense_Mutation SNP G G A TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr6:97489422G>A c.259G>A c.(259-261)Ggt>Agt p.G87S BLCA 6 97561859 97561859 + Silent SNP C C T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 g.chr6:97561859C>T c.828C>T c.(826-828)gtC>gtT p.V276V BLCA 6 97561929 97561929 + Missense_Mutation SNP G G A TCGA-XF-A9SZ-01A-11D-A391-08 TCGA-XF-A9SZ-10A-01D-A394-08 g.chr6:97561929G>A c.898G>A c.(898-900)Gag>Aag p.E300K BLCA 6 97587083 97587083 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr6:97587083C>T c.1788C>T c.(1786-1788)ttC>ttT p.F596F BRCA 6 97512544 97512544 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr6:97512544C>T c.353C>T c.(352-354)gCg>gTg p.A118V BRCA 6 97533213 97533213 + Missense_Mutation SNP G G T TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 g.chr6:97533213G>T c.623G>T c.(622-624)tGg>tTg p.W208L COAD 6 97414940 97414940 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:97414940C>T c.4C>T c.(4-6)Ccg>Tcg p.P2S COAD 6 97423950 97423950 + Missense_Mutation SNP A A G TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr6:97423950A>G c.101A>G c.(100-102)cAg>cGg p.Q34R COAD 6 97489380 97489380 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:97489380C>A c.217C>A c.(217-219)Ctt>Att p.L73I COAD 6 97512568 97512568 + Missense_Mutation SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr6:97512568A>G c.377A>G c.(376-378)gAg>gGg p.E126G COAD 6 97533083 97533083 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr6:97533083G>A c.493G>A c.(493-495)Gat>Aat p.D165N COAD 6 97533119 97533119 + Missense_Mutation SNP A A C TCGA-AA-A00L-01A-01W-A005-10 TCGA-AA-A00L-10A-01W-A005-10 g.chr6:97533119A>C c.529A>C c.(529-531)Agc>Cgc p.S177R COAD 6 97533133 97533133 + Missense_Mutation SNP A A C TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr6:97533133A>C c.543A>C c.(541-543)gaA>gaC p.E181D COAD 6 97533142 97533142 + Silent SNP G G A TCGA-CK-6748-01A-11D-1835-10 TCGA-CK-6748-10A-01D-1835-10 g.chr6:97533142G>A c.552G>A c.(550-552)acG>acA p.T184T COAD 6 97533208 97533208 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:97533208G>T c.618G>T c.(616-618)caG>caT p.Q206H COAD 6 97561732 97561732 + Missense_Mutation SNP G G A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr6:97561732G>A c.701G>A c.(700-702)gGc>gAc p.G234D COAD 6 97561851 97561851 + Missense_Mutation SNP C C G TCGA-AA-3968-01A-01W-0995-10 TCGA-AA-3968-10A-01W-0995-10 g.chr6:97561851C>G c.820C>G c.(820-822)Cag>Gag p.Q274E COAD 6 97561879 97561879 + Missense_Mutation SNP A A T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:97561879A>T c.848A>T c.(847-849)aAa>aTa p.K283I COAD 6 97561926 97561926 + Missense_Mutation SNP C C T TCGA-A6-6654-01A-21D-1835-10 TCGA-A6-6654-10A-01D-1835-10 g.chr6:97561926C>T c.895C>T c.(895-897)Cgc>Tgc p.R299C COAD 6 97561984 97561984 + Missense_Mutation SNP C C A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr6:97561984C>A c.953C>A c.(952-954)gCt>gAt p.A318D COAD 6 97562038 97562038 + Missense_Mutation SNP G G A TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr6:97562038G>A c.1007G>A c.(1006-1008)aGg>aAg p.R336K COAD 6 97562152 97562152 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr6:97562152G>A c.1121G>A c.(1120-1122)cGc>cAc p.R374H COAD 6 97562261 97562261 + Silent SNP C C G TCGA-CA-5797-01A-01D-1650-10 TCGA-CA-5797-10A-01D-1650-10 g.chr6:97562261C>G c.1230C>G c.(1228-1230)cgC>cgG p.R410R COAD 6 97578797 97578797 + Nonsense_Mutation SNP G G A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr6:97578797G>A c.1578G>A c.(1576-1578)tgG>tgA p.W526* COAD 6 97587059 97587059 + Silent SNP T T C TCGA-A6-5659-01A-01D-1650-10 TCGA-A6-5659-11A-01D-1650-10 g.chr6:97587059T>C c.1764T>C c.(1762-1764)gcT>gcC p.A588A COAD 6 97587059 97587059 + Silent SNP T T C TCGA-D5-6898-01A-11D-1924-10 TCGA-D5-6898-10A-01D-1924-10 g.chr6:97587059T>C c.1764T>C c.(1762-1764)gcT>gcC p.A588A COADREAD 6 97414940 97414940 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:97414940C>T c.4C>T c.(4-6)Ccg>Tcg p.P2S COADREAD 6 97423950 97423950 + Missense_Mutation SNP A A G TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr6:97423950A>G c.101A>G c.(100-102)cAg>cGg p.Q34R COADREAD 6 97489380 97489380 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:97489380C>A c.217C>A c.(217-219)Ctt>Att p.L73I COADREAD 6 97512568 97512568 + Missense_Mutation SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr6:97512568A>G c.377A>G c.(376-378)gAg>gGg p.E126G COADREAD 6 97533083 97533083 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr6:97533083G>A c.493G>A c.(493-495)Gat>Aat p.D165N COADREAD 6 97533119 97533119 + Missense_Mutation SNP A A C TCGA-AA-A00L-01A-01W-A005-10 TCGA-AA-A00L-10A-01W-A005-10 g.chr6:97533119A>C c.529A>C c.(529-531)Agc>Cgc p.S177R COADREAD 6 97533133 97533133 + Missense_Mutation SNP A A C TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr6:97533133A>C c.543A>C c.(541-543)gaA>gaC p.E181D COADREAD 6 97533142 97533142 + Silent SNP G G A TCGA-CK-6748-01A-11D-1835-10 TCGA-CK-6748-10A-01D-1835-10 g.chr6:97533142G>A c.552G>A c.(550-552)acG>acA p.T184T COADREAD 6 97533208 97533208 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:97533208G>T c.618G>T c.(616-618)caG>caT p.Q206H COADREAD 6 97561732 97561732 + Missense_Mutation SNP G G A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr6:97561732G>A c.701G>A c.(700-702)gGc>gAc p.G234D COADREAD 6 97561851 97561851 + Missense_Mutation SNP C C G TCGA-AA-3968-01A-01W-0995-10 TCGA-AA-3968-10A-01W-0995-10 g.chr6:97561851C>G c.820C>G c.(820-822)Cag>Gag p.Q274E COADREAD 6 97561879 97561879 + Missense_Mutation SNP A A T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:97561879A>T c.848A>T c.(847-849)aAa>aTa p.K283I COADREAD 6 97561926 97561926 + Missense_Mutation SNP C C T TCGA-A6-6654-01A-21D-1835-10 TCGA-A6-6654-10A-01D-1835-10 g.chr6:97561926C>T c.895C>T c.(895-897)Cgc>Tgc p.R299C COADREAD 6 97561953 97561953 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:97561953C>T c.922C>T c.(922-924)Cgg>Tgg p.R308W COADREAD 6 97561984 97561984 + Missense_Mutation SNP C C A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr6:97561984C>A c.953C>A c.(952-954)gCt>gAt p.A318D COADREAD 6 97562038 97562038 + Missense_Mutation SNP G G A TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr6:97562038G>A c.1007G>A c.(1006-1008)aGg>aAg p.R336K COADREAD 6 97562152 97562152 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr6:97562152G>A c.1121G>A c.(1120-1122)cGc>cAc p.R374H COADREAD 6 97562260 97562260 + Missense_Mutation SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr6:97562260G>A c.1229G>A c.(1228-1230)cGc>cAc p.R410H COADREAD 6 97562261 97562261 + Silent SNP C C G TCGA-CA-5797-01A-01D-1650-10 TCGA-CA-5797-10A-01D-1650-10 g.chr6:97562261C>G c.1230C>G c.(1228-1230)cgC>cgG p.R410R COADREAD 6 97578797 97578797 + Nonsense_Mutation SNP G G A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr6:97578797G>A c.1578G>A c.(1576-1578)tgG>tgA p.W526* COADREAD 6 97587059 97587059 + Silent SNP T T C TCGA-A6-5659-01A-01D-1650-10 TCGA-A6-5659-11A-01D-1650-10 g.chr6:97587059T>C c.1764T>C c.(1762-1764)gcT>gcC p.A588A COADREAD 6 97587059 97587059 + Silent SNP T T C TCGA-D5-6898-01A-11D-1924-10 TCGA-D5-6898-10A-01D-1924-10 g.chr6:97587059T>C c.1764T>C c.(1762-1764)gcT>gcC p.A588A DLBC 6 97423931 97423931 + Missense_Mutation SNP G G A TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr6:97423931G>A c.82G>A c.(82-84)Gtc>Atc p.V28I DLBC 6 97533193 97533193 + Silent SNP C C A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr6:97533193C>A c.603C>A c.(601-603)tcC>tcA p.S201S DLBC 6 97562207 97562207 + Silent SNP G G T TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr6:97562207G>T c.1176G>T c.(1174-1176)gtG>gtT p.V392V ESCA 6 97423886 97423886 + Silent SNP C C T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 g.chr6:97423886C>T c.37C>T c.(37-39)Ctg>Ttg p.L13L ESCA 6 97423985 97423985 + Silent SNP C C T TCGA-L5-A8NL-01A-12D-A37C-09 TCGA-L5-A8NL-11A-12D-A37F-09 g.chr6:97423985C>T c.136C>T c.(136-138)Ctg>Ttg p.L46L ESCA 6 97512566 97512566 + Missense_Mutation SNP G G T TCGA-L5-A4OQ-01A-11D-A27G-09 TCGA-L5-A4OQ-11A-12D-A27G-09 g.chr6:97512566G>T c.375G>T c.(373-375)ttG>ttT p.L125F ESCA 6 97533159 97533159 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 g.chr6:97533159T>G c.569T>G c.(568-570)cTt>cGt p.L190R ESCA 6 97561851 97561851 + Missense_Mutation SNP C C A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 g.chr6:97561851C>A c.820C>A c.(820-822)Cag>Aag p.Q274K ESCA 6 97578788 97578788 + Silent SNP T T C TCGA-VR-AA7I-01A-11D-A403-09 TCGA-VR-AA7I-10A-01D-A403-09 g.chr6:97578788T>C c.1569T>C c.(1567-1569)acT>acC p.T523T HNSC 6 97414959 97414959 + Splice_Site SNP G G C TCGA-CR-6478-01A-11D-1870-08 TCGA-CR-6478-10A-01D-1870-08 g.chr6:97414959G>C c.23G>C c.(22-24)aGt>aCt p.S8T HNSC 6 97512561 97512561 + Missense_Mutation SNP C C A TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 g.chr6:97512561C>A c.370C>A c.(370-372)Ctg>Atg p.L124M HNSC 6 97562024 97562024 + Silent SNP C C A TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 g.chr6:97562024C>A c.993C>A c.(991-993)ccC>ccA p.P331P HNSC 6 97562042 97562042 + Silent SNP C C T TCGA-CV-7245-01A-11D-2012-08 TCGA-CV-7245-10A-01D-2013-08 g.chr6:97562042C>T c.1011C>T c.(1009-1011)agC>agT p.S337S HNSC 6 97575321 97575321 + Missense_Mutation SNP G G C TCGA-BA-A6DF-01A-11D-A30E-08 TCGA-BA-A6DF-10A-01D-A30H-08 g.chr6:97575321G>C c.1396G>C c.(1396-1398)Gtg>Ctg p.V466L HNSC 6 97580562 97580562 + Missense_Mutation SNP G G T TCGA-T2-A6WZ-01A-21D-A34J-08 TCGA-T2-A6WZ-10B-01D-A34M-08 g.chr6:97580562G>T c.1640G>T c.(1639-1641)gGg>gTg p.G547V KIPAN 6 97423877 97423877 + Missense_Mutation SNP C C A TCGA-CZ-5463-01A-01D-1501-10 TCGA-CZ-5463-11A-01D-1501-10 g.chr6:97423877C>A c.28C>A c.(28-30)Caa>Aaa p.Q10K KIPAN 6 97562031 97562031 + Missense_Mutation SNP G G T TCGA-A4-8310-01A-11D-2396-08 TCGA-A4-8310-10A-01D-2396-08 g.chr6:97562031G>T c.1000G>T c.(1000-1002)Gtg>Ttg p.V334L KIPAN 6 97562309 97562309 + Missense_Mutation SNP G G T TCGA-CJ-4903-01A-01D-1429-08 TCGA-CJ-4903-11A-01D-1429-08 g.chr6:97562309G>T c.1278G>T c.(1276-1278)tgG>tgT p.W426C KIRC 6 97423877 97423877 + Missense_Mutation SNP C C A TCGA-CZ-5463-01A-01D-1501-10 TCGA-CZ-5463-11A-01D-1501-10 g.chr6:97423877C>A c.28C>A c.(28-30)Caa>Aaa p.Q10K KIRC 6 97562309 97562309 + Missense_Mutation SNP G G T TCGA-CJ-4903-01A-01D-1429-08 TCGA-CJ-4903-11A-01D-1429-08 g.chr6:97562309G>T c.1278G>T c.(1276-1278)tgG>tgT p.W426C KIRP 6 97562031 97562031 + Missense_Mutation SNP G G T TCGA-A4-8310-01A-11D-2396-08 TCGA-A4-8310-10A-01D-2396-08 g.chr6:97562031G>T c.1000G>T c.(1000-1002)Gtg>Ttg p.V334L LIHC 6 97512550 97512550 + Missense_Mutation SNP G G T TCGA-LG-A6GG-01A-11D-A30V-10 TCGA-LG-A6GG-10A-01D-A30V-10 g.chr6:97512550G>T c.359G>T c.(358-360)aGt>aTt p.S120I LIHC 6 97533088 97533088 + Missense_Mutation SNP C C G TCGA-DD-AACU-01A-11D-A40R-10 TCGA-DD-AACU-10A-01D-A40U-10 g.chr6:97533088C>G c.498C>G c.(496-498)ttC>ttG p.F166L LIHC 6 97561726 97561726 + Missense_Mutation SNP G G A TCGA-PD-A5DF-01A-11D-A27I-10 TCGA-PD-A5DF-10A-01D-A27I-10 g.chr6:97561726G>A c.695G>A c.(694-696)cGc>cAc p.R232H LIHC 6 97561870 97561870 + Missense_Mutation SNP G G T TCGA-DD-AAVR-01A-11D-A40R-10 TCGA-DD-AAVR-10A-01D-A40U-10 g.chr6:97561870G>T c.839G>T c.(838-840)cGc>cTc p.R280L LIHC 6 97562045 97562045 + Missense_Mutation SNP C C A TCGA-BD-A2L6-01A-11D-A20W-10 TCGA-BD-A2L6-11A-21D-A20W-10 g.chr6:97562045C>A c.1014C>A c.(1012-1014)caC>caA p.H338Q LUAD 6 97423908 97423908 + Missense_Mutation SNP A A T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr6:97423908A>T c.59A>T c.(58-60)cAc>cTc p.H20L LUAD 6 97424052 97424052 + Splice_Site SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 g.chr6:97424052G>T c.203G>T c.(202-204)cGg>cTg p.R68L LUAD 6 97489402 97489402 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 g.chr6:97489402C>T c.239C>T c.(238-240)gCt>gTt p.A80V LUAD 6 97512538 97512538 + Frame_Shift_Del DEL T T - TCGA-99-8032-01A-11D-2238-08 TCGA-99-8032-10A-01D-2238-08 g.chr6:97512538delT c.347delT c.(346-348)ctafs p.L116fs LUAD 6 97533105 97533105 + Missense_Mutation SNP C C A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 g.chr6:97533105C>A c.515C>A c.(514-516)tCt>tAt p.S172Y LUAD 6 97533169 97533169 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr6:97533169G>A c.579G>A c.(577-579)gtG>gtA p.V193V LUAD 6 97561769 97561769 + Silent SNP G G T TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr6:97561769G>T c.738G>T c.(736-738)ctG>ctT p.L246L LUAD 6 97561863 97561863 + Missense_Mutation SNP C C A TCGA-17-Z041-01A-01W-0746-08 TCGA-17-Z041-11A-01W-0746-08 g.chr6:97561863C>A c.832C>A c.(832-834)Cag>Aag p.Q278K LUAD 6 97561897 97561897 + Missense_Mutation SNP A A T TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr6:97561897A>T c.866A>T c.(865-867)gAc>gTc p.D289V LUAD 6 97562061 97562061 + Missense_Mutation SNP A A G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 g.chr6:97562061A>G c.1030A>G c.(1030-1032)Atg>Gtg p.M344V LUAD 6 97562130 97562130 + Missense_Mutation SNP A A G TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 g.chr6:97562130A>G c.1099A>G c.(1099-1101)Act>Gct p.T367A LUAD 6 97562151 97562151 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr6:97562151C>G c.1120C>G c.(1120-1122)Cgc>Ggc p.R374G LUAD 6 97578796 97578796 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr6:97578796G>C c.1577G>C c.(1576-1578)tGg>tCg p.W526S LUAD 6 97587138 97587138 + Missense_Mutation SNP C C A TCGA-86-8585-01A-11D-2393-08 TCGA-86-8585-10A-01D-2393-08 g.chr6:97587138C>A c.1843C>A c.(1843-1845)Cac>Aac p.H615N LUSC 6 97424046 97424046 + Missense_Mutation SNP A A G TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 g.chr6:97424046A>G c.197A>G c.(196-198)tAt>tGt p.Y66C LUSC 6 97489367 97489367 + Splice_Site SNP G G T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr6:97489367G>T c.e4-1 LUSC 6 97512545 97512545 + Frame_Shift_Del DEL G G - TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 g.chr6:97512545delG c.354delG c.(352-354)gcgfs p.A118fs LUSC 6 97512602 97512602 + Splice_Site SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr6:97512602G>A c.411G>A c.(409-411)caG>caA p.Q137Q LUSC 6 97533046 97533046 + Silent SNP C C T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 g.chr6:97533046C>T c.456C>T c.(454-456)gaC>gaT p.D152D LUSC 6 97561755 97561755 + Missense_Mutation SNP C C A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 g.chr6:97561755C>A c.724C>A c.(724-726)Cat>Aat p.H242N LUSC 6 97561847 97561847 + Silent SNP T T C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 g.chr6:97561847T>C c.816T>C c.(814-816)taT>taC p.Y272Y LUSC 6 97562194 97562194 + Missense_Mutation SNP G G T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 g.chr6:97562194G>T c.1163G>T c.(1162-1164)cGg>cTg p.R388L OV 6 97533046 97533046 + Silent SNP C C T TCGA-13-0910-01A-01W-0421-09 TCGA-13-0910-10A-01W-0421-09 g.chr6:97533046C>T c.456C>T c.(454-456)gaC>gaT p.D152D OV 6 97561812 97561812 + Missense_Mutation SNP G G T TCGA-42-2591-01A-01D-1526-09 TCGA-42-2591-10A-01D-1526-09 g.chr6:97561812G>T c.781G>T c.(781-783)Gtc>Ttc p.V261F OV 6 97562044 97562044 + Missense_Mutation SNP A A G TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 g.chr6:97562044A>G c.1013A>G c.(1012-1014)cAc>cGc p.H338R OV 6 97587058 97587058 + Missense_Mutation SNP C C T TCGA-24-1563-01A-01W-0553-09 TCGA-24-1563-10A-01W-0553-09 g.chr6:97587058C>T c.1763C>T c.(1762-1764)gCt>gTt p.A588V PAAD 6 97414940 97414940 + Missense_Mutation SNP C C T TCGA-H8-A6C1-01A-11D-A32N-08 TCGA-H8-A6C1-10A-01D-A32N-08 g.chr6:97414940C>T c.4C>T c.(4-6)Ccg>Tcg p.P2S PAAD 6 97423967 97423967 + Missense_Mutation SNP A A G TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 g.chr6:97423967A>G c.118A>G c.(118-120)Atc>Gtc p.I40V PAAD 6 97562152 97562152 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:97562152G>A c.1121G>A c.(1120-1122)cGc>cAc p.R374H PAAD 6 97575296 97575296 + Silent SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr6:97575296G>T c.1371G>T c.(1369-1371)acG>acT p.T457T PAAD 6 97578726 97578726 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:97578726G>A c.1507G>A c.(1507-1509)Gac>Aac p.D503N PRAD 6 97587107 97587107 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr6:97587107C>T c.1812C>T c.(1810-1812)tgC>tgT p.C604C READ 6 97561953 97561953 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:97561953C>T c.922C>T c.(922-924)Cgg>Tgg p.R308W READ 6 97562260 97562260 + Missense_Mutation SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr6:97562260G>A c.1229G>A c.(1228-1230)cGc>cAc p.R410H SARC 6 97561755 97561755 + Missense_Mutation SNP C C A TCGA-DX-A6BF-01A-11D-A307-09 TCGA-DX-A6BF-10A-01D-A307-09 g.chr6:97561755C>A c.724C>A c.(724-726)Cat>Aat p.H242N SKCM 6 97424050 97424050 + Silent SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr6:97424050C>T c.201C>T c.(199-201)ttC>ttT p.F67F SKCM 6 97561827 97561827 + Missense_Mutation SNP G G A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr6:97561827G>A c.796G>A c.(796-798)Gaa>Aaa p.E266K SKCM 6 97561953 97561953 + Missense_Mutation SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 g.chr6:97561953C>T c.922C>T c.(922-924)Cgg>Tgg p.R308W SKCM 6 97562022 97562022 + Missense_Mutation SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr6:97562022C>T c.991C>T c.(991-993)Ccc>Tcc p.P331S SKCM 6 97562123 97562123 + Silent SNP T T G TCGA-EE-A20F-06A-21D-A196-08 TCGA-EE-A20F-10A-01D-A198-08 g.chr6:97562123T>G c.1092T>G c.(1090-1092)gcT>gcG p.A364A SKCM 6 97562161 97562161 + Missense_Mutation SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 g.chr6:97562161C>T c.1130C>T c.(1129-1131)tCc>tTc p.S377F SKCM 6 97562162 97562162 + Silent SNP C C T TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 g.chr6:97562162C>T c.1131C>T c.(1129-1131)tcC>tcT p.S377S SKCM 6 97562220 97562220 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr6:97562220G>A c.1189G>A c.(1189-1191)Gag>Aag p.E397K SKCM 6 97562253 97562253 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr6:97562253G>A c.1222G>A c.(1222-1224)Gaa>Aaa p.E408K SKCM 6 97562260 97562260 + Missense_Mutation SNP G G A TCGA-EE-A3AH-06A-11D-A196-08 TCGA-EE-A3AH-10A-01D-A198-08 g.chr6:97562260G>A c.1229G>A c.(1228-1230)cGc>cAc p.R410H SKCM 6 97562297 97562297 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr6:97562297G>A c.1266G>A c.(1264-1266)aaG>aaA p.K422K SKCM 6 97587033 97587033 + Missense_Mutation SNP T T A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr6:97587033T>A c.1738T>A c.(1738-1740)Ttc>Atc p.F580I SKCM 6 97587155 97587155 + Silent SNP C C T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr6:97587155C>T c.1860C>T c.(1858-1860)atC>atT p.I620I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 6 97533142 97533142 single base substitution G A intron_variant ALL-US 6 97533142 97533142 single base substitution G A synonymous_variant T115T 345G>A ALL-US 6 97533142 97533142 single base substitution G A synonymous_variant T148T 444G>A ALL-US 6 97533142 97533142 single base substitution G A synonymous_variant T184T 552G>A ALL-US 6 97533142 97533142 single base substitution G A synonymous_variant T80T 240G>A BLCA-CN 6 97512577 97512577 single base substitution A G 5_prime_UTR_variant BLCA-CN 6 97512577 97512577 single base substitution A G intron_variant BLCA-CN 6 97512577 97512577 single base substitution A G missense_variant N129S 386A>G BLCA-CN 6 97512577 97512577 single base substitution A G missense_variant N25S 74A>G BLCA-CN 6 97512577 97512577 single base substitution A G missense_variant N93S 278A>G BLCA-CN 6 97587123 97587123 single base substitution C G missense_variant L166V 496C>G BLCA-CN 6 97587123 97587123 single base substitution C G missense_variant L541V 1621C>G BLCA-CN 6 97587123 97587123 single base substitution C G missense_variant L574V 1720C>G BLCA-CN 6 97587123 97587123 single base substitution C G missense_variant L610V 1828C>G BLCA-US 6 97489422 97489422 single base substitution G A 5_prime_UTR_variant BLCA-US 6 97489422 97489422 single base substitution G A intron_variant BLCA-US 6 97489422 97489422 single base substitution G A missense_variant G87S 259G>A BLCA-US 6 97561859 97561859 single base substitution C T 3_prime_UTR_variant BLCA-US 6 97561859 97561859 single base substitution C T intron_variant BLCA-US 6 97561859 97561859 single base substitution C T synonymous_variant V207V 621C>T BLCA-US 6 97561859 97561859 single base substitution C T synonymous_variant V240V 720C>T BLCA-US 6 97561859 97561859 single base substitution C T synonymous_variant V276V 828C>T BLCA-US 6 97587083 97587083 single base substitution C T synonymous_variant F152F 456C>T BLCA-US 6 97587083 97587083 single base substitution C T synonymous_variant F527F 1581C>T BLCA-US 6 97587083 97587083 single base substitution C T synonymous_variant F560F 1680C>T BLCA-US 6 97587083 97587083 single base substitution C T synonymous_variant F596F 1788C>T BOCA-FR 6 97404724 97404724 single base substitution T A intron_variant BRCA-EU 6 97367623 97367623 single base substitution C G upstream_gene_variant BRCA-EU 6 97371260 97371260 single base substitution A G upstream_gene_variant BRCA-EU 6 97373114 97373114 single base substitution C A intron_variant BRCA-EU 6 97373495 97373495 single base substitution G A intron_variant BRCA-EU 6 97373511 97373511 single base substitution A G intron_variant BRCA-EU 6 97374940 97374940 single base substitution A G intron_variant BRCA-EU 6 97377439 97377439 single base substitution T A intron_variant BRCA-EU 6 97377535 97377535 single base substitution C T intron_variant BRCA-EU 6 97377845 97377845 single base substitution C G intron_variant BRCA-EU 6 97379227 97379227 deletion of <=200bp C - intron_variant BRCA-EU 6 97379343 97379343 single base substitution T G intron_variant BRCA-EU 6 97379604 97379604 single base substitution G A intron_variant BRCA-EU 6 97379959 97379959 deletion of <=200bp A - intron_variant BRCA-EU 6 97380338 97380338 insertion of <=200bp - T intron_variant BRCA-EU 6 97381498 97381498 single base substitution G C intron_variant BRCA-EU 6 97381798 97381798 single base substitution C G intron_variant BRCA-EU 6 97381804 97381804 single base substitution C T intron_variant BRCA-EU 6 97382694 97382694 single base substitution A G intron_variant BRCA-EU 6 97382971 97382971 single base substitution C T intron_variant BRCA-EU 6 97383193 97383193 single base substitution C G intron_variant BRCA-EU 6 97383837 97383837 single base substitution C T intron_variant BRCA-EU 6 97384317 97384317 single base substitution G A intron_variant BRCA-EU 6 97385112 97385112 deletion of <=200bp C - intron_variant BRCA-EU 6 97385331 97385331 single base substitution G A intron_variant BRCA-EU 6 97385363 97385363 single base substitution T G intron_variant BRCA-EU 6 97385563 97385563 single base substitution C G intron_variant BRCA-EU 6 97385631 97385631 single base substitution C T intron_variant BRCA-EU 6 97386335 97386335 single base substitution T G intron_variant BRCA-EU 6 97386665 97386665 single base substitution A G intron_variant BRCA-EU 6 97387574 97387574 single base substitution G C intron_variant BRCA-EU 6 97388820 97388820 single base substitution G T intron_variant BRCA-EU 6 97390797 97390797 single base substitution C G intron_variant BRCA-EU 6 97391221 97391221 single base substitution G C intron_variant BRCA-EU 6 97391396 97391396 single base substitution G T intron_variant BRCA-EU 6 97391991 97391991 single base substitution C T intron_variant BRCA-EU 6 97392413 97392413 single base substitution G C intron_variant BRCA-EU 6 97392527 97392527 single base substitution G C intron_variant BRCA-EU 6 97392690 97392690 single base substitution T G intron_variant BRCA-EU 6 97393139 97393139 single base substitution C T intron_variant BRCA-EU 6 97393424 97393424 single base substitution C T intron_variant BRCA-EU 6 97393986 97393986 single base substitution T C intron_variant BRCA-EU 6 97394610 97394610 single base substitution C A intron_variant BRCA-EU 6 97394944 97394944 single base substitution A G intron_variant BRCA-EU 6 97395037 97395037 single base substitution T G intron_variant BRCA-EU 6 97395402 97395402 single base substitution A T intron_variant BRCA-EU 6 97396283 97396283 deletion of <=200bp A - intron_variant BRCA-EU 6 97397410 97397410 single base substitution C T intron_variant BRCA-EU 6 97399219 97399219 single base substitution T C intron_variant BRCA-EU 6 97400651 97400651 single base substitution A G intron_variant BRCA-EU 6 97401425 97401425 single base substitution G A intron_variant BRCA-EU 6 97401493 97401493 single base substitution G C intron_variant BRCA-EU 6 97401917 97401917 single base substitution C T intron_variant BRCA-EU 6 97402303 97402303 single base substitution A C intron_variant BRCA-EU 6 97403047 97403047 single base substitution G T intron_variant BRCA-EU 6 97403110 97403110 single base substitution T C intron_variant BRCA-EU 6 97403642 97403642 single base substitution G T intron_variant BRCA-EU 6 97406197 97406197 single base substitution G A intron_variant BRCA-EU 6 97407768 97407768 single base substitution T G intron_variant BRCA-EU 6 97410065 97410065 single base substitution G C intron_variant BRCA-EU 6 97410065 97410065 single base substitution G C upstream_gene_variant BRCA-EU 6 97410293 97410293 single base substitution T C intron_variant BRCA-EU 6 97410293 97410293 single base substitution T C upstream_gene_variant BRCA-EU 6 97410296 97410296 single base substitution T C intron_variant BRCA-EU 6 97410296 97410296 single base substitution T C upstream_gene_variant BRCA-EU 6 97410378 97410378 single base substitution A C intron_variant BRCA-EU 6 97410378 97410378 single base substitution A C upstream_gene_variant BRCA-EU 6 97410889 97410889 single base substitution A C intron_variant BRCA-EU 6 97410889 97410889 single base substitution A C upstream_gene_variant BRCA-EU 6 97411629 97411629 single base substitution C G intron_variant BRCA-EU 6 97411629 97411629 single base substitution C G upstream_gene_variant BRCA-EU 6 97411838 97411838 single base substitution C G intron_variant BRCA-EU 6 97411838 97411838 single base substitution C G upstream_gene_variant BRCA-EU 6 97412006 97412006 single base substitution G T intron_variant BRCA-EU 6 97412006 97412006 single base substitution G T upstream_gene_variant BRCA-EU 6 97412085 97412085 single base substitution G A intron_variant BRCA-EU 6 97412085 97412085 single base substitution G A upstream_gene_variant BRCA-EU 6 97412103 97412103 single base substitution G C intron_variant BRCA-EU 6 97412103 97412103 single base substitution G C upstream_gene_variant BRCA-EU 6 97412123 97412123 single base substitution C T intron_variant BRCA-EU 6 97412123 97412123 single base substitution C T upstream_gene_variant BRCA-EU 6 97412428 97412428 single base substitution C T intron_variant BRCA-EU 6 97412428 97412428 single base substitution C T upstream_gene_variant BRCA-EU 6 97414734 97414734 single base substitution T G intron_variant BRCA-EU 6 97414734 97414734 single base substitution T G upstream_gene_variant BRCA-EU 6 97414941 97414941 single base substitution C A 5_prime_UTR_variant BRCA-EU 6 97414941 97414941 single base substitution C A missense_variant P2Q 5C>A BRCA-EU 6 97416968 97416968 single base substitution T G intron_variant BRCA-EU 6 97416981 97416981 single base substitution A G intron_variant BRCA-EU 6 97417901 97417901 single base substitution C T intron_variant BRCA-EU 6 97418873 97418873 single base substitution T A intron_variant BRCA-EU 6 97419730 97419730 insertion of <=200bp - T intron_variant BRCA-EU 6 97421755 97421755 single base substitution G T intron_variant BRCA-EU 6 97421893 97421893 single base substitution T A intron_variant BRCA-EU 6 97423324 97423324 single base substitution C T intron_variant BRCA-EU 6 97423738 97423738 single base substitution G A intron_variant BRCA-EU 6 97424721 97424721 single base substitution C T intron_variant BRCA-EU 6 97425196 97425196 single base substitution G A intron_variant BRCA-EU 6 97426013 97426013 deletion of <=200bp T - intron_variant BRCA-EU 6 97426347 97426347 single base substitution A C intron_variant BRCA-EU 6 97426484 97426484 single base substitution C T intron_variant BRCA-EU 6 97428088 97428088 single base substitution G T intron_variant BRCA-EU 6 97429121 97429121 single base substitution T A intron_variant BRCA-EU 6 97429260 97429260 single base substitution G A intron_variant BRCA-EU 6 97429519 97429519 single base substitution A G intron_variant BRCA-EU 6 97429940 97429940 single base substitution G A intron_variant BRCA-EU 6 97431625 97431625 single base substitution C T intron_variant BRCA-EU 6 97431709 97431709 single base substitution C T intron_variant BRCA-EU 6 97432202 97432202 single base substitution C G intron_variant BRCA-EU 6 97432769 97432769 single base substitution G T intron_variant BRCA-EU 6 97432827 97432827 single base substitution C G intron_variant BRCA-EU 6 97433297 97433297 single base substitution C T intron_variant BRCA-EU 6 97433750 97433750 single base substitution G A intron_variant BRCA-EU 6 97434267 97434267 single base substitution G C intron_variant BRCA-EU 6 97434557 97434557 single base substitution A G intron_variant BRCA-EU 6 97435334 97435334 single base substitution C T intron_variant BRCA-EU 6 97436672 97436672 single base substitution C T intron_variant BRCA-EU 6 97436985 97436985 single base substitution A C intron_variant BRCA-EU 6 97440014 97440014 single base substitution G T intron_variant BRCA-EU 6 97442294 97442294 deletion of <=200bp T - intron_variant BRCA-EU 6 97443037 97443037 single base substitution C T intron_variant BRCA-EU 6 97443475 97443475 single base substitution G A intron_variant BRCA-EU 6 97443782 97443782 single base substitution T G intron_variant BRCA-EU 6 97443848 97443848 single base substitution G T intron_variant BRCA-EU 6 97444792 97444792 single base substitution G C intron_variant BRCA-EU 6 97445570 97445570 single base substitution A T intron_variant BRCA-EU 6 97447206 97447206 single base substitution A G intron_variant BRCA-EU 6 97448205 97448205 single base substitution G C intron_variant BRCA-EU 6 97449116 97449116 single base substitution G A intron_variant BRCA-EU 6 97449759 97449759 single base substitution G A intron_variant BRCA-EU 6 97451415 97451415 single base substitution C T intron_variant BRCA-EU 6 97451632 97451632 deletion of <=200bp C - intron_variant BRCA-EU 6 97451844 97451844 single base substitution C G intron_variant BRCA-EU 6 97452380 97452380 single base substitution C T intron_variant BRCA-EU 6 97452440 97452440 single base substitution G A intron_variant BRCA-EU 6 97453546 97453546 single base substitution G A intron_variant BRCA-EU 6 97453550 97453550 single base substitution G A intron_variant BRCA-EU 6 97454123 97454123 single base substitution C T intron_variant BRCA-EU 6 97454206 97454206 single base substitution G T intron_variant BRCA-EU 6 97454519 97454519 single base substitution C T intron_variant BRCA-EU 6 97455641 97455641 single base substitution G T intron_variant BRCA-EU 6 97456202 97456202 single base substitution C A intron_variant BRCA-EU 6 97457093 97457093 single base substitution A G intron_variant BRCA-EU 6 97459083 97459083 single base substitution C A intron_variant BRCA-EU 6 97459698 97459698 single base substitution A C intron_variant BRCA-EU 6 97460109 97460109 single base substitution A C intron_variant BRCA-EU 6 97460366 97460366 single base substitution G A intron_variant BRCA-EU 6 97460746 97460746 single base substitution G C intron_variant BRCA-EU 6 97460798 97460798 single base substitution C A intron_variant BRCA-EU 6 97460881 97460881 single base substitution T C intron_variant BRCA-EU 6 97461665 97461665 single base substitution C A intron_variant BRCA-EU 6 97464409 97464409 single base substitution A T intron_variant BRCA-EU 6 97466189 97466189 single base substitution A G intron_variant BRCA-EU 6 97466328 97466328 single base substitution G C intron_variant BRCA-EU 6 97466788 97466788 single base substitution C T intron_variant BRCA-EU 6 97467302 97467302 single base substitution T C intron_variant BRCA-EU 6 97467652 97467652 single base substitution T A intron_variant BRCA-EU 6 97468180 97468180 deletion of <=200bp A - intron_variant BRCA-EU 6 97469213 97469213 single base substitution G A intron_variant BRCA-EU 6 97469308 97469308 single base substitution G T intron_variant BRCA-EU 6 97469398 97469398 single base substitution G C intron_variant BRCA-EU 6 97471341 97471341 single base substitution A T intron_variant BRCA-EU 6 97472020 97472020 deletion of <=200bp A - intron_variant BRCA-EU 6 97472265 97472265 insertion of <=200bp - T intron_variant BRCA-EU 6 97472515 97472515 single base substitution A C intron_variant BRCA-EU 6 97473843 97473843 single base substitution C T intron_variant BRCA-EU 6 97474737 97474737 single base substitution T G intron_variant BRCA-EU 6 97474948 97474948 single base substitution G A intron_variant BRCA-EU 6 97474994 97474994 single base substitution C T intron_variant BRCA-EU 6 97475502 97475502 single base substitution C G intron_variant BRCA-EU 6 97475809 97475809 single base substitution C T intron_variant BRCA-EU 6 97476171 97476171 single base substitution T C intron_variant BRCA-EU 6 97476783 97476783 single base substitution G A intron_variant BRCA-EU 6 97476988 97476988 single base substitution A T intron_variant BRCA-EU 6 97477362 97477362 single base substitution T C intron_variant BRCA-EU 6 97477767 97477767 single base substitution C T intron_variant BRCA-EU 6 97477965 97477965 single base substitution G T intron_variant BRCA-EU 6 97478301 97478301 single base substitution C T intron_variant BRCA-EU 6 97478566 97478566 deletion of <=200bp T - intron_variant BRCA-EU 6 97479476 97479476 single base substitution A T intron_variant BRCA-EU 6 97481095 97481095 single base substitution T C intron_variant BRCA-EU 6 97481979 97481979 single base substitution A G intron_variant BRCA-EU 6 97482111 97482111 single base substitution C T intron_variant BRCA-EU 6 97483487 97483487 single base substitution A G intron_variant BRCA-EU 6 97483651 97483651 single base substitution C G intron_variant BRCA-EU 6 97485622 97485622 single base substitution A G intron_variant BRCA-EU 6 97486545 97486545 deletion of <=200bp A - intron_variant BRCA-EU 6 97486707 97486707 single base substitution C G intron_variant BRCA-EU 6 97487386 97487386 single base substitution C G intron_variant BRCA-EU 6 97487958 97487958 single base substitution A C intron_variant BRCA-EU 6 97488566 97488566 single base substitution T C intron_variant BRCA-EU 6 97488739 97488739 single base substitution C T intron_variant BRCA-EU 6 97488758 97488758 single base substitution G T intron_variant BRCA-EU 6 97489280 97489280 deletion of <=200bp T - intron_variant BRCA-EU 6 97490767 97490767 single base substitution C T intron_variant BRCA-EU 6 97491014 97491014 single base substitution G A intron_variant BRCA-EU 6 97492744 97492744 single base substitution C T intron_variant BRCA-EU 6 97492776 97492776 insertion of <=200bp - T intron_variant BRCA-EU 6 97493433 97493433 single base substitution A T intron_variant BRCA-EU 6 97494443 97494443 single base substitution T A intron_variant BRCA-EU 6 97495665 97495665 single base substitution C T intron_variant BRCA-EU 6 97496848 97496848 single base substitution T A intron_variant BRCA-EU 6 97498246 97498246 single base substitution C G intron_variant BRCA-EU 6 97498469 97498469 single base substitution T C intron_variant BRCA-EU 6 97499685 97499685 single base substitution A T intron_variant BRCA-EU 6 97500950 97500950 single base substitution G C intron_variant BRCA-EU 6 97501397 97501397 single base substitution A T intron_variant BRCA-EU 6 97503820 97503820 single base substitution A G intron_variant BRCA-EU 6 97506465 97506465 single base substitution T C intron_variant BRCA-EU 6 97508112 97508112 deletion of <=200bp G - intron_variant BRCA-EU 6 97508112 97508112 deletion of <=200bp G - upstream_gene_variant BRCA-EU 6 97508113 97508113 insertion of <=200bp - A intron_variant BRCA-EU 6 97508113 97508113 insertion of <=200bp - A upstream_gene_variant BRCA-EU 6 97508818 97508818 single base substitution C G intron_variant BRCA-EU 6 97508818 97508818 single base substitution C G upstream_gene_variant BRCA-EU 6 97509201 97509201 single base substitution C T intron_variant BRCA-EU 6 97509201 97509201 single base substitution C T upstream_gene_variant BRCA-EU 6 97510331 97510331 single base substitution C T intron_variant BRCA-EU 6 97510331 97510331 single base substitution C T upstream_gene_variant BRCA-EU 6 97512157 97512157 single base substitution T C intron_variant BRCA-EU 6 97512157 97512157 single base substitution T C upstream_gene_variant BRCA-EU 6 97514114 97514114 single base substitution A G intron_variant BRCA-EU 6 97514547 97514547 single base substitution G A intron_variant BRCA-EU 6 97514977 97514977 single base substitution C G intron_variant BRCA-EU 6 97515319 97515319 deletion of <=200bp G - intron_variant BRCA-EU 6 97515794 97515794 single base substitution G C intron_variant BRCA-EU 6 97516349 97516349 single base substitution T A intron_variant BRCA-EU 6 97516351 97516351 single base substitution A G intron_variant BRCA-EU 6 97516907 97516907 single base substitution G A intron_variant BRCA-EU 6 97518545 97518545 single base substitution C T intron_variant BRCA-EU 6 97519067 97519067 single base substitution G T intron_variant BRCA-EU 6 97521391 97521391 single base substitution A G intron_variant BRCA-EU 6 97524086 97524086 single base substitution G A intron_variant BRCA-EU 6 97524326 97524326 single base substitution G A intron_variant BRCA-EU 6 97524342 97524342 insertion of <=200bp - A intron_variant BRCA-EU 6 97525679 97525679 single base substitution G C intron_variant BRCA-EU 6 97526384 97526384 single base substitution T C intron_variant BRCA-EU 6 97526799 97526799 single base substitution C T intron_variant BRCA-EU 6 97527922 97527922 single base substitution G A intron_variant BRCA-EU 6 97528243 97528243 single base substitution A G intron_variant BRCA-EU 6 97528288 97528288 single base substitution C T intron_variant BRCA-EU 6 97528645 97528645 single base substitution A G intron_variant BRCA-EU 6 97529407 97529407 single base substitution A C intron_variant BRCA-EU 6 97530148 97530148 single base substitution G C intron_variant BRCA-EU 6 97532261 97532261 single base substitution G A intron_variant BRCA-EU 6 97533182 97533182 single base substitution C T intron_variant BRCA-EU 6 97533182 97533182 single base substitution C T missense_variant R129C 385C>T BRCA-EU 6 97533182 97533182 single base substitution C T missense_variant R162C 484C>T BRCA-EU 6 97533182 97533182 single base substitution C T missense_variant R198C 592C>T BRCA-EU 6 97533182 97533182 single base substitution C T missense_variant R94C 280C>T BRCA-EU 6 97533356 97533356 single base substitution G A intron_variant BRCA-EU 6 97533480 97533480 single base substitution G C intron_variant BRCA-EU 6 97533669 97533669 single base substitution C G intron_variant BRCA-EU 6 97535815 97535815 single base substitution C G intron_variant BRCA-EU 6 97536437 97536437 single base substitution A T intron_variant BRCA-EU 6 97539089 97539089 insertion of <=200bp - A intron_variant BRCA-EU 6 97539839 97539839 single base substitution C A intron_variant BRCA-EU 6 97539992 97539992 single base substitution A C intron_variant BRCA-EU 6 97541810 97541810 single base substitution A C intron_variant BRCA-EU 6 97542044 97542044 single base substitution T C intron_variant BRCA-EU 6 97543547 97543547 single base substitution A T intron_variant BRCA-EU 6 97544780 97544780 single base substitution G A intron_variant BRCA-EU 6 97544881 97544881 single base substitution A G intron_variant BRCA-EU 6 97547210 97547210 single base substitution G C intron_variant BRCA-EU 6 97547470 97547470 single base substitution C T intron_variant BRCA-EU 6 97548937 97548937 single base substitution G A intron_variant BRCA-EU 6 97550019 97550019 single base substitution T C intron_variant BRCA-EU 6 97550795 97550795 single base substitution G C intron_variant BRCA-EU 6 97552111 97552111 single base substitution C T intron_variant BRCA-EU 6 97552749 97552749 single base substitution C A intron_variant BRCA-EU 6 97552906 97552906 single base substitution G A intron_variant BRCA-EU 6 97553192 97553192 single base substitution G A intron_variant BRCA-EU 6 97553323 97553323 single base substitution G T intron_variant BRCA-EU 6 97553323 97553323 single base substitution G T missense_variant C107F 320G>T BRCA-EU 6 97553487 97553487 single base substitution G A intron_variant BRCA-EU 6 97555257 97555257 single base substitution G A intron_variant BRCA-EU 6 97555481 97555481 single base substitution G C intron_variant BRCA-EU 6 97556808 97556808 single base substitution A G intron_variant BRCA-EU 6 97557837 97557837 single base substitution G A intron_variant BRCA-EU 6 97557863 97557863 single base substitution A C intron_variant BRCA-EU 6 97557958 97557958 single base substitution G T intron_variant BRCA-EU 6 97558348 97558348 single base substitution C T intron_variant BRCA-EU 6 97558653 97558653 deletion of <=200bp C - intron_variant BRCA-EU 6 97559783 97559783 single base substitution C T intron_variant BRCA-EU 6 97560316 97560316 single base substitution T A intron_variant BRCA-EU 6 97560519 97560519 single base substitution C T intron_variant BRCA-EU 6 97561012 97561012 single base substitution C T intron_variant BRCA-EU 6 97561091 97561091 single base substitution C T intron_variant BRCA-EU 6 97561953 97561953 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 97561953 97561953 single base substitution C T intron_variant BRCA-EU 6 97561953 97561953 single base substitution C T missense_variant R239W 715C>T BRCA-EU 6 97561953 97561953 single base substitution C T missense_variant R272W 814C>T BRCA-EU 6 97561953 97561953 single base substitution C T missense_variant R308W 922C>T BRCA-EU 6 97562658 97562658 single base substitution T G downstream_gene_variant BRCA-EU 6 97562658 97562658 single base substitution T G intron_variant BRCA-EU 6 97562799 97562799 single base substitution T C downstream_gene_variant BRCA-EU 6 97562799 97562799 single base substitution T C intron_variant BRCA-EU 6 97564610 97564610 single base substitution C T downstream_gene_variant BRCA-EU 6 97564610 97564610 single base substitution C T intron_variant BRCA-EU 6 97565535 97565535 single base substitution T G downstream_gene_variant BRCA-EU 6 97565535 97565535 single base substitution T G intron_variant BRCA-EU 6 97565784 97565784 insertion of <=200bp - A downstream_gene_variant BRCA-EU 6 97565784 97565784 insertion of <=200bp - A intron_variant BRCA-EU 6 97566269 97566269 single base substitution C T downstream_gene_variant BRCA-EU 6 97566269 97566269 single base substitution C T intron_variant BRCA-EU 6 97567029 97567029 single base substitution T G downstream_gene_variant BRCA-EU 6 97567029 97567029 single base substitution T G intron_variant BRCA-EU 6 97567960 97567960 single base substitution G A intron_variant BRCA-EU 6 97569564 97569564 single base substitution C T intron_variant BRCA-EU 6 97573082 97573082 single base substitution A G intron_variant BRCA-EU 6 97573876 97573876 single base substitution G A intron_variant BRCA-EU 6 97580723 97580723 single base substitution G C downstream_gene_variant BRCA-EU 6 97580723 97580723 single base substitution G C intron_variant BRCA-EU 6 97580936 97580936 single base substitution G C downstream_gene_variant BRCA-EU 6 97580936 97580936 single base substitution G C intron_variant BRCA-EU 6 97581170 97581170 single base substitution G T downstream_gene_variant BRCA-EU 6 97581170 97581170 single base substitution G T intron_variant BRCA-EU 6 97582214 97582217 deletion of <=200bp TTAG - downstream_gene_variant BRCA-EU 6 97582214 97582217 deletion of <=200bp TTAG - intron_variant BRCA-EU 6 97583426 97583426 single base substitution G A downstream_gene_variant BRCA-EU 6 97583426 97583426 single base substitution G A intron_variant BRCA-EU 6 97583930 97583930 single base substitution A T intron_variant BRCA-EU 6 97584070 97584070 deletion of <=200bp T - intron_variant BRCA-EU 6 97584286 97584286 single base substitution A C intron_variant BRCA-EU 6 97584666 97584666 single base substitution C G intron_variant BRCA-EU 6 97584933 97584933 single base substitution C A intron_variant BRCA-EU 6 97585044 97585044 single base substitution G A intron_variant BRCA-EU 6 97585416 97585416 deletion of <=200bp T - intron_variant BRCA-EU 6 97585424 97585424 single base substitution T C intron_variant BRCA-EU 6 97585596 97585596 single base substitution G C intron_variant BRCA-EU 6 97585963 97585963 single base substitution A G intron_variant BRCA-EU 6 97587389 97587389 single base substitution C G 3_prime_UTR_variant BRCA-EU 6 97588423 97588423 single base substitution A G 3_prime_UTR_variant BRCA-EU 6 97588423 97588423 single base substitution A G downstream_gene_variant BRCA-EU 6 97588670 97588670 single base substitution A G downstream_gene_variant BRCA-EU 6 97589472 97589472 single base substitution T C downstream_gene_variant BRCA-EU 6 97590441 97590441 single base substitution A T downstream_gene_variant BRCA-EU 6 97590919 97590919 single base substitution C A downstream_gene_variant BRCA-EU 6 97591231 97591231 single base substitution T A downstream_gene_variant BRCA-EU 6 97591568 97591568 single base substitution C T downstream_gene_variant BRCA-EU 6 97591838 97591838 single base substitution A T downstream_gene_variant BRCA-EU 6 97591884 97591884 single base substitution G A downstream_gene_variant BRCA-EU 6 97593173 97593173 single base substitution A T downstream_gene_variant BRCA-EU 6 97593232 97593232 single base substitution T A downstream_gene_variant BRCA-FR 6 97380993 97380993 single base substitution G A intron_variant BRCA-FR 6 97384317 97384317 single base substitution G A intron_variant BRCA-FR 6 97385331 97385331 single base substitution G A intron_variant BRCA-FR 6 97385631 97385631 single base substitution C T intron_variant BRCA-FR 6 97388820 97388820 single base substitution G T intron_variant BRCA-FR 6 97390797 97390797 single base substitution C G intron_variant BRCA-FR 6 97396974 97396974 single base substitution G A intron_variant BRCA-FR 6 97397410 97397410 single base substitution C T intron_variant BRCA-FR 6 97401493 97401493 single base substitution G C intron_variant BRCA-FR 6 97403642 97403642 single base substitution G T intron_variant BRCA-FR 6 97406433 97406433 single base substitution T C intron_variant BRCA-FR 6 97409109 97409109 single base substitution G A intron_variant BRCA-FR 6 97410065 97410065 single base substitution G C intron_variant BRCA-FR 6 97410065 97410065 single base substitution G C upstream_gene_variant BRCA-FR 6 97412085 97412085 single base substitution G A intron_variant BRCA-FR 6 97412085 97412085 single base substitution G A upstream_gene_variant BRCA-FR 6 97412103 97412103 single base substitution G C intron_variant BRCA-FR 6 97412103 97412103 single base substitution G C upstream_gene_variant BRCA-FR 6 97423738 97423738 single base substitution G A intron_variant BRCA-FR 6 97429519 97429519 single base substitution A G intron_variant BRCA-FR 6 97431625 97431625 single base substitution C T intron_variant BRCA-FR 6 97443782 97443782 single base substitution T G intron_variant BRCA-FR 6 97443848 97443848 single base substitution G T intron_variant BRCA-FR 6 97448205 97448205 single base substitution G C intron_variant BRCA-FR 6 97455641 97455641 single base substitution G T intron_variant BRCA-FR 6 97456202 97456202 single base substitution C A intron_variant BRCA-FR 6 97460366 97460366 single base substitution G A intron_variant BRCA-FR 6 97460746 97460746 single base substitution G C intron_variant BRCA-FR 6 97461163 97461163 single base substitution C A intron_variant BRCA-FR 6 97477965 97477965 single base substitution G T intron_variant BRCA-FR 6 97487386 97487386 single base substitution C G intron_variant BRCA-FR 6 97488566 97488566 single base substitution T C intron_variant BRCA-FR 6 97496848 97496848 single base substitution T A intron_variant BRCA-FR 6 97500950 97500950 single base substitution G C intron_variant BRCA-FR 6 97513656 97513656 single base substitution G A intron_variant BRCA-FR 6 97517660 97517660 single base substitution C A intron_variant BRCA-FR 6 97525370 97525370 single base substitution A G intron_variant BRCA-FR 6 97527922 97527922 single base substitution G A intron_variant BRCA-FR 6 97530519 97530519 single base substitution A T intron_variant BRCA-FR 6 97535033 97535033 single base substitution G C intron_variant BRCA-FR 6 97543474 97543474 single base substitution G A intron_variant BRCA-FR 6 97544881 97544881 single base substitution A G intron_variant BRCA-FR 6 97551258 97551258 single base substitution T C intron_variant BRCA-FR 6 97553192 97553192 single base substitution G A intron_variant BRCA-FR 6 97557837 97557837 single base substitution G A intron_variant BRCA-FR 6 97557863 97557863 single base substitution A C intron_variant BRCA-FR 6 97560052 97560052 single base substitution C A intron_variant BRCA-FR 6 97562799 97562799 single base substitution T C downstream_gene_variant BRCA-FR 6 97562799 97562799 single base substitution T C intron_variant BRCA-FR 6 97569564 97569564 single base substitution C T intron_variant BRCA-FR 6 97580653 97580653 single base substitution G A downstream_gene_variant BRCA-FR 6 97580653 97580653 single base substitution G A intron_variant BRCA-FR 6 97585044 97585044 single base substitution G A intron_variant BRCA-FR 6 97585596 97585596 single base substitution G C intron_variant BRCA-FR 6 97593232 97593232 single base substitution T A downstream_gene_variant BRCA-UK 6 97393424 97393424 single base substitution C T intron_variant BRCA-UK 6 97406197 97406197 single base substitution G A intron_variant BRCA-UK 6 97410378 97410378 single base substitution A C intron_variant BRCA-UK 6 97410378 97410378 single base substitution A C upstream_gene_variant BRCA-UK 6 97412123 97412123 single base substitution C T intron_variant BRCA-UK 6 97412123 97412123 single base substitution C T upstream_gene_variant BRCA-UK 6 97434783 97434783 single base substitution G A intron_variant BRCA-UK 6 97434809 97434809 single base substitution A G intron_variant BRCA-UK 6 97434834 97434834 single base substitution A G intron_variant BRCA-UK 6 97434842 97434842 single base substitution C T intron_variant BRCA-UK 6 97494443 97494443 single base substitution T A intron_variant BRCA-UK 6 97555257 97555257 single base substitution G A intron_variant BRCA-UK 6 97562272 97562272 single base substitution C G downstream_gene_variant BRCA-UK 6 97562272 97562272 single base substitution C G intron_variant BRCA-UK 6 97562272 97562272 single base substitution C G missense_variant P345R 1034C>G BRCA-UK 6 97562272 97562272 single base substitution C G missense_variant P378R 1133C>G BRCA-UK 6 97562272 97562272 single base substitution C G missense_variant P414R 1241C>G BRCA-UK 6 97584286 97584286 single base substitution A C intron_variant BRCA-US 6 97512544 97512544 single base substitution C T 5_prime_UTR_variant BRCA-US 6 97512544 97512544 single base substitution C T intron_variant BRCA-US 6 97512544 97512544 single base substitution C T missense_variant A118V 353C>T BRCA-US 6 97512544 97512544 single base substitution C T missense_variant A14V 41C>T BRCA-US 6 97512544 97512544 single base substitution C T missense_variant A82V 245C>T BRCA-US 6 97533213 97533213 single base substitution G T intron_variant BRCA-US 6 97533213 97533213 single base substitution G T missense_variant W104L 311G>T BRCA-US 6 97533213 97533213 single base substitution G T missense_variant W139L 416G>T BRCA-US 6 97533213 97533213 single base substitution G T missense_variant W172L 515G>T BRCA-US 6 97533213 97533213 single base substitution G T missense_variant W208L 623G>T BTCA-JP 6 97533073 97533073 single base substitution G T intron_variant BTCA-JP 6 97533073 97533073 single base substitution G T missense_variant K125N 375G>T BTCA-JP 6 97533073 97533073 single base substitution G T missense_variant K161N 483G>T BTCA-JP 6 97533073 97533073 single base substitution G T missense_variant K57N 171G>T BTCA-JP 6 97533073 97533073 single base substitution G T missense_variant K92N 276G>T BTCA-JP 6 97561885 97561885 single base substitution G A 3_prime_UTR_variant BTCA-JP 6 97561885 97561885 single base substitution G A intron_variant BTCA-JP 6 97561885 97561885 single base substitution G A missense_variant R216Q 647G>A BTCA-JP 6 97561885 97561885 single base substitution G A missense_variant R249Q 746G>A BTCA-JP 6 97561885 97561885 single base substitution G A missense_variant R285Q 854G>A BTCA-JP 6 97562175 97562175 single base substitution G A downstream_gene_variant BTCA-JP 6 97562175 97562175 single base substitution G A intron_variant BTCA-JP 6 97562175 97562175 single base substitution G A missense_variant A313T 937G>A BTCA-JP 6 97562175 97562175 single base substitution G A missense_variant A346T 1036G>A BTCA-JP 6 97562175 97562175 single base substitution G A missense_variant A382T 1144G>A BTCA-JP 6 97575141 97575141 single base substitution T G intron_variant BTCA-JP 6 97578901 97578901 single base substitution G A downstream_gene_variant BTCA-JP 6 97578901 97578901 single base substitution G A intron_variant CLLE-ES 6 97399658 97399658 single base substitution A G intron_variant CLLE-ES 6 97404713 97404713 single base substitution C A intron_variant CLLE-ES 6 97441665 97441665 single base substitution C T intron_variant CLLE-ES 6 97445080 97445080 single base substitution G A intron_variant CLLE-ES 6 97459853 97459853 single base substitution C T intron_variant CLLE-ES 6 97490105 97490105 single base substitution C T intron_variant CLLE-ES 6 97500280 97500280 single base substitution C T intron_variant CLLE-ES 6 97503688 97503688 single base substitution A C intron_variant CLLE-ES 6 97509356 97509356 single base substitution T C intron_variant CLLE-ES 6 97509356 97509356 single base substitution T C upstream_gene_variant CLLE-ES 6 97514646 97514646 single base substitution T C intron_variant CLLE-ES 6 97527544 97527544 single base substitution T C intron_variant CLLE-ES 6 97556481 97556481 single base substitution T G intron_variant CLLE-ES 6 97569494 97569494 single base substitution T G intron_variant COAD-US 6 97489380 97489380 single base substitution C A 5_prime_UTR_variant COAD-US 6 97489380 97489380 single base substitution C A intron_variant COAD-US 6 97489380 97489380 single base substitution C A missense_variant L73I 217C>A COAD-US 6 97533208 97533208 single base substitution G T intron_variant COAD-US 6 97533208 97533208 single base substitution G T missense_variant Q102H 306G>T COAD-US 6 97533208 97533208 single base substitution G T missense_variant Q137H 411G>T COAD-US 6 97533208 97533208 single base substitution G T missense_variant Q170H 510G>T COAD-US 6 97533208 97533208 single base substitution G T missense_variant Q206H 618G>T COAD-US 6 97561732 97561732 single base substitution G A intron_variant COAD-US 6 97561732 97561732 single base substitution G A missense_variant G165D 494G>A COAD-US 6 97561732 97561732 single base substitution G A missense_variant G198D 593G>A COAD-US 6 97561732 97561732 single base substitution G A missense_variant G234D 701G>A COAD-US 6 97561732 97561732 single base substitution G A stop_gained W156* 468G>A COAD-US 6 97561926 97561926 single base substitution C T 3_prime_UTR_variant COAD-US 6 97561926 97561926 single base substitution C T intron_variant COAD-US 6 97561926 97561926 single base substitution C T missense_variant R230C 688C>T COAD-US 6 97561926 97561926 single base substitution C T missense_variant R263C 787C>T COAD-US 6 97561926 97561926 single base substitution C T missense_variant R299C 895C>T COAD-US 6 97561984 97561984 single base substitution C A 3_prime_UTR_variant COAD-US 6 97561984 97561984 single base substitution C A intron_variant COAD-US 6 97561984 97561984 single base substitution C A missense_variant A249D 746C>A COAD-US 6 97561984 97561984 single base substitution C A missense_variant A282D 845C>A COAD-US 6 97561984 97561984 single base substitution C A missense_variant A318D 953C>A COAD-US 6 97562038 97562038 single base substitution G A 3_prime_UTR_variant COAD-US 6 97562038 97562038 single base substitution G A intron_variant COAD-US 6 97562038 97562038 single base substitution G A missense_variant R267K 800G>A COAD-US 6 97562038 97562038 single base substitution G A missense_variant R300K 899G>A COAD-US 6 97562038 97562038 single base substitution G A missense_variant R336K 1007G>A COAD-US 6 97562261 97562261 single base substitution C G downstream_gene_variant COAD-US 6 97562261 97562261 single base substitution C G intron_variant COAD-US 6 97562261 97562261 single base substitution C G synonymous_variant R341R 1023C>G COAD-US 6 97562261 97562261 single base substitution C G synonymous_variant R374R 1122C>G COAD-US 6 97562261 97562261 single base substitution C G synonymous_variant R410R 1230C>G COAD-US 6 97578797 97578797 single base substitution G A 3_prime_UTR_variant COAD-US 6 97578797 97578797 single base substitution G A stop_gained W457* 1371G>A COAD-US 6 97578797 97578797 single base substitution G A stop_gained W490* 1470G>A COAD-US 6 97578797 97578797 single base substitution G A stop_gained W526* 1578G>A COAD-US 6 97578797 97578797 single base substitution G A stop_gained W82* 246G>A COCA-CN 6 97372444 97372444 single base substitution A G upstream_gene_variant COCA-CN 6 97430924 97430924 single base substitution C T intron_variant COCA-CN 6 97431470 97431470 single base substitution C A intron_variant COCA-CN 6 97431474 97431474 single base substitution A G intron_variant COCA-CN 6 97446908 97446908 single base substitution T A intron_variant COCA-CN 6 97452743 97452743 single base substitution C T intron_variant COCA-CN 6 97458012 97458012 single base substitution A C intron_variant COCA-CN 6 97459052 97459052 single base substitution C T intron_variant COCA-CN 6 97466204 97466204 single base substitution A G intron_variant COCA-CN 6 97474995 97474995 single base substitution G A intron_variant COCA-CN 6 97483088 97483088 single base substitution C G intron_variant COCA-CN 6 97483128 97483128 single base substitution C A intron_variant COCA-CN 6 97483393 97483393 single base substitution G A intron_variant COCA-CN 6 97489563 97489563 single base substitution T C intron_variant COCA-CN 6 97498416 97498416 single base substitution A G intron_variant COCA-CN 6 97515907 97515907 single base substitution C T intron_variant COCA-CN 6 97521228 97521228 single base substitution G A intron_variant COCA-CN 6 97528549 97528549 single base substitution G A intron_variant COCA-CN 6 97537000 97537000 single base substitution A G intron_variant COCA-CN 6 97553301 97553301 single base substitution C A intron_variant COCA-CN 6 97560642 97560642 single base substitution A T intron_variant COCA-CN 6 97561606 97561606 single base substitution C A intron_variant COCA-CN 6 97561953 97561953 single base substitution C T 3_prime_UTR_variant COCA-CN 6 97561953 97561953 single base substitution C T intron_variant COCA-CN 6 97561953 97561953 single base substitution C T missense_variant R239W 715C>T COCA-CN 6 97561953 97561953 single base substitution C T missense_variant R272W 814C>T COCA-CN 6 97561953 97561953 single base substitution C T missense_variant R308W 922C>T COCA-CN 6 97561962 97561962 single base substitution A G 3_prime_UTR_variant COCA-CN 6 97561962 97561962 single base substitution A G intron_variant COCA-CN 6 97561962 97561962 single base substitution A G missense_variant N242D 724A>G COCA-CN 6 97561962 97561962 single base substitution A G missense_variant N275D 823A>G COCA-CN 6 97561962 97561962 single base substitution A G missense_variant N311D 931A>G COCA-CN 6 97562239 97562239 single base substitution T G downstream_gene_variant COCA-CN 6 97562239 97562239 single base substitution T G intron_variant COCA-CN 6 97562239 97562239 single base substitution T G missense_variant V334G 1001T>G COCA-CN 6 97562239 97562239 single base substitution T G missense_variant V367G 1100T>G COCA-CN 6 97562239 97562239 single base substitution T G missense_variant V403G 1208T>G COCA-CN 6 97564658 97564658 single base substitution C A downstream_gene_variant COCA-CN 6 97564658 97564658 single base substitution C A intron_variant COCA-CN 6 97565823 97565823 single base substitution T G downstream_gene_variant COCA-CN 6 97565823 97565823 single base substitution T G intron_variant COCA-CN 6 97565824 97565824 single base substitution A C downstream_gene_variant COCA-CN 6 97565824 97565824 single base substitution A C intron_variant COCA-CN 6 97571632 97571632 single base substitution A T intron_variant COCA-CN 6 97578620 97578620 single base substitution T G intron_variant COCA-CN 6 97580457 97580457 single base substitution G A downstream_gene_variant COCA-CN 6 97580457 97580457 single base substitution G A intron_variant COCA-CN 6 97580699 97580699 single base substitution G T downstream_gene_variant COCA-CN 6 97580699 97580699 single base substitution G T intron_variant EOPC-DE 6 97385587 97385587 single base substitution G A intron_variant EOPC-DE 6 97401552 97401552 single base substitution C G intron_variant EOPC-DE 6 97424849 97424849 single base substitution C T intron_variant EOPC-DE 6 97439635 97439635 single base substitution A T intron_variant EOPC-DE 6 97493773 97493773 single base substitution A G intron_variant EOPC-DE 6 97541081 97541081 single base substitution G A intron_variant EOPC-DE 6 97581655 97581655 single base substitution C T downstream_gene_variant EOPC-DE 6 97581655 97581655 single base substitution C T intron_variant EOPC-DE 6 97589486 97589486 single base substitution A C downstream_gene_variant EOPC-DE 6 97589525 97589525 single base substitution T G downstream_gene_variant EOPC-DE 6 97592888 97592888 single base substitution G A downstream_gene_variant ESAD-UK 6 97367921 97367921 single base substitution G C upstream_gene_variant ESAD-UK 6 97368708 97368708 single base substitution A G upstream_gene_variant ESAD-UK 6 97369077 97369077 single base substitution G A upstream_gene_variant ESAD-UK 6 97370152 97370152 single base substitution G T upstream_gene_variant ESAD-UK 6 97370153 97370153 single base substitution G T upstream_gene_variant ESAD-UK 6 97370548 97370548 single base substitution T A upstream_gene_variant ESAD-UK 6 97371025 97371025 single base substitution C A upstream_gene_variant ESAD-UK 6 97371324 97371324 single base substitution C T upstream_gene_variant ESAD-UK 6 97371401 97371401 single base substitution A T upstream_gene_variant ESAD-UK 6 97372247 97372247 single base substitution G A upstream_gene_variant ESAD-UK 6 97374293 97374293 single base substitution G A intron_variant ESAD-UK 6 97375938 97375938 single base substitution T G intron_variant ESAD-UK 6 97376186 97376186 single base substitution G A intron_variant ESAD-UK 6 97376812 97376812 single base substitution C T intron_variant ESAD-UK 6 97377635 97377635 single base substitution A C intron_variant ESAD-UK 6 97378373 97378373 single base substitution A G intron_variant ESAD-UK 6 97379820 97379820 single base substitution T C intron_variant ESAD-UK 6 97380348 97380348 single base substitution A C intron_variant ESAD-UK 6 97380613 97380613 single base substitution T G intron_variant ESAD-UK 6 97381254 97381254 single base substitution T G intron_variant ESAD-UK 6 97381306 97381306 single base substitution G T intron_variant ESAD-UK 6 97382375 97382375 single base substitution C T intron_variant ESAD-UK 6 97382439 97382439 single base substitution G C intron_variant ESAD-UK 6 97382916 97382916 single base substitution G A intron_variant ESAD-UK 6 97383003 97383003 single base substitution A C intron_variant ESAD-UK 6 97383437 97383437 single base substitution A C intron_variant ESAD-UK 6 97384574 97384574 single base substitution T G intron_variant ESAD-UK 6 97384959 97384959 single base substitution T G intron_variant ESAD-UK 6 97385288 97385288 single base substitution T G intron_variant ESAD-UK 6 97386507 97386507 insertion of <=200bp - GCA intron_variant ESAD-UK 6 97386893 97386893 single base substitution G T intron_variant ESAD-UK 6 97387182 97387182 single base substitution C A intron_variant ESAD-UK 6 97387490 97387490 deletion of <=200bp A - intron_variant ESAD-UK 6 97388234 97388234 insertion of <=200bp - A intron_variant ESAD-UK 6 97390530 97390530 insertion of <=200bp - T intron_variant ESAD-UK 6 97390675 97390675 single base substitution C A intron_variant ESAD-UK 6 97391629 97391629 insertion of <=200bp - T intron_variant ESAD-UK 6 97392539 97392539 single base substitution T G intron_variant ESAD-UK 6 97392694 97392694 single base substitution A C intron_variant ESAD-UK 6 97392832 97392832 single base substitution T G intron_variant ESAD-UK 6 97393704 97393704 single base substitution G T intron_variant ESAD-UK 6 97393864 97393864 single base substitution G A intron_variant ESAD-UK 6 97393869 97393869 single base substitution A C intron_variant ESAD-UK 6 97394149 97394149 single base substitution A G intron_variant ESAD-UK 6 97394311 97394311 single base substitution T C intron_variant ESAD-UK 6 97394712 97394712 deletion of <=200bp A - intron_variant ESAD-UK 6 97395554 97395554 single base substitution A C intron_variant ESAD-UK 6 97397178 97397178 single base substitution C A intron_variant ESAD-UK 6 97397983 97397983 single base substitution T C intron_variant ESAD-UK 6 97398146 97398146 single base substitution C G intron_variant ESAD-UK 6 97398516 97398516 single base substitution T G intron_variant ESAD-UK 6 97398654 97398654 single base substitution T G intron_variant ESAD-UK 6 97398942 97398942 single base substitution C T intron_variant ESAD-UK 6 97399523 97399523 single base substitution T C intron_variant ESAD-UK 6 97399795 97399795 single base substitution G T intron_variant ESAD-UK 6 97400000 97400000 single base substitution G T intron_variant ESAD-UK 6 97400196 97400196 single base substitution A C intron_variant ESAD-UK 6 97400196 97400196 single base substitution A G intron_variant ESAD-UK 6 97400391 97400391 single base substitution A G intron_variant ESAD-UK 6 97401116 97401116 deletion of <=200bp C - intron_variant ESAD-UK 6 97401117 97401117 single base substitution T A intron_variant ESAD-UK 6 97401138 97401138 single base substitution C A intron_variant ESAD-UK 6 97401223 97401223 single base substitution T A intron_variant ESAD-UK 6 97402748 97402748 single base substitution T G intron_variant ESAD-UK 6 97403171 97403171 single base substitution T G intron_variant ESAD-UK 6 97403271 97403271 single base substitution T G intron_variant ESAD-UK 6 97403704 97403704 single base substitution T G intron_variant ESAD-UK 6 97403936 97403936 single base substitution A C intron_variant ESAD-UK 6 97404102 97404102 single base substitution T G intron_variant ESAD-UK 6 97404215 97404215 single base substitution T G intron_variant ESAD-UK 6 97404443 97404443 single base substitution T G intron_variant ESAD-UK 6 97404516 97404516 single base substitution G T intron_variant ESAD-UK 6 97404764 97404764 deletion of <=200bp A - intron_variant ESAD-UK 6 97405244 97405244 single base substitution T C intron_variant ESAD-UK 6 97406265 97406265 single base substitution G T intron_variant ESAD-UK 6 97406292 97406292 single base substitution A T intron_variant ESAD-UK 6 97406711 97406711 single base substitution A G intron_variant ESAD-UK 6 97406723 97406723 single base substitution A C intron_variant ESAD-UK 6 97406950 97406950 single base substitution A G intron_variant ESAD-UK 6 97407415 97407415 single base substitution C A intron_variant ESAD-UK 6 97407788 97407788 single base substitution T G intron_variant ESAD-UK 6 97407903 97407903 single base substitution A G intron_variant ESAD-UK 6 97408084 97408084 deletion of <=200bp T - intron_variant ESAD-UK 6 97408183 97408183 single base substitution T C intron_variant ESAD-UK 6 97410063 97410063 single base substitution T G intron_variant ESAD-UK 6 97410063 97410063 single base substitution T G upstream_gene_variant ESAD-UK 6 97410189 97410189 single base substitution G T intron_variant ESAD-UK 6 97410189 97410189 single base substitution G T upstream_gene_variant ESAD-UK 6 97410280 97410280 single base substitution A C intron_variant ESAD-UK 6 97410280 97410280 single base substitution A C upstream_gene_variant ESAD-UK 6 97411084 97411084 single base substitution T G intron_variant ESAD-UK 6 97411084 97411084 single base substitution T G upstream_gene_variant ESAD-UK 6 97411582 97411582 single base substitution T C intron_variant ESAD-UK 6 97411582 97411582 single base substitution T C upstream_gene_variant ESAD-UK 6 97411982 97411982 single base substitution T G intron_variant ESAD-UK 6 97411982 97411982 single base substitution T G upstream_gene_variant ESAD-UK 6 97412479 97412479 single base substitution A G intron_variant ESAD-UK 6 97412479 97412479 single base substitution A G upstream_gene_variant ESAD-UK 6 97412586 97412586 single base substitution A C intron_variant ESAD-UK 6 97412586 97412586 single base substitution A C upstream_gene_variant ESAD-UK 6 97414229 97414229 single base substitution C T intron_variant ESAD-UK 6 97414229 97414229 single base substitution C T upstream_gene_variant ESAD-UK 6 97414854 97414854 single base substitution T C intron_variant ESAD-UK 6 97414854 97414854 single base substitution T C upstream_gene_variant ESAD-UK 6 97415088 97415088 single base substitution T G intron_variant ESAD-UK 6 97415350 97415350 single base substitution T G intron_variant ESAD-UK 6 97415799 97415799 single base substitution C T intron_variant ESAD-UK 6 97417332 97417332 single base substitution A C intron_variant ESAD-UK 6 97419043 97419043 insertion of <=200bp - G intron_variant ESAD-UK 6 97419170 97419170 single base substitution T G intron_variant ESAD-UK 6 97419297 97419297 single base substitution T A intron_variant ESAD-UK 6 97419607 97419607 single base substitution G A intron_variant ESAD-UK 6 97419608 97419608 single base substitution G T intron_variant ESAD-UK 6 97419714 97419714 single base substitution A G intron_variant ESAD-UK 6 97419728 97419728 single base substitution A T intron_variant ESAD-UK 6 97420549 97420549 single base substitution A C intron_variant ESAD-UK 6 97423034 97423034 single base substitution G T intron_variant ESAD-UK 6 97423518 97423518 single base substitution A T intron_variant ESAD-UK 6 97423519 97423519 single base substitution A C intron_variant ESAD-UK 6 97423659 97423659 single base substitution G C intron_variant ESAD-UK 6 97423865 97423865 single base substitution C T splice_region_variant ESAD-UK 6 97424618 97424618 single base substitution G A intron_variant ESAD-UK 6 97424619 97424619 single base substitution G C intron_variant ESAD-UK 6 97424721 97424721 single base substitution C A intron_variant ESAD-UK 6 97425028 97425028 single base substitution C A intron_variant ESAD-UK 6 97425977 97425977 single base substitution T G intron_variant ESAD-UK 6 97426136 97426136 single base substitution T C intron_variant ESAD-UK 6 97426147 97426147 single base substitution T G intron_variant ESAD-UK 6 97426295 97426295 single base substitution T G intron_variant ESAD-UK 6 97426686 97426686 insertion of <=200bp - T intron_variant ESAD-UK 6 97426798 97426798 single base substitution T G intron_variant ESAD-UK 6 97426855 97426855 deletion of <=200bp T - intron_variant ESAD-UK 6 97427299 97427299 single base substitution A C intron_variant ESAD-UK 6 97427309 97427309 single base substitution A C intron_variant ESAD-UK 6 97427367 97427367 single base substitution G C intron_variant ESAD-UK 6 97428980 97428980 single base substitution T C intron_variant ESAD-UK 6 97429242 97429242 deletion of <=200bp T - intron_variant ESAD-UK 6 97429267 97429267 single base substitution G A intron_variant ESAD-UK 6 97429529 97429529 single base substitution C T intron_variant ESAD-UK 6 97429810 97429810 insertion of <=200bp - T intron_variant ESAD-UK 6 97429953 97429953 single base substitution A C intron_variant ESAD-UK 6 97430218 97430218 single base substitution G T intron_variant ESAD-UK 6 97430781 97430781 single base substitution T C intron_variant ESAD-UK 6 97433766 97433766 single base substitution G A intron_variant ESAD-UK 6 97433922 97433922 single base substitution T C intron_variant ESAD-UK 6 97434150 97434150 single base substitution C A intron_variant ESAD-UK 6 97434161 97434161 deletion of <=200bp G - intron_variant ESAD-UK 6 97434203 97434203 single base substitution A T intron_variant ESAD-UK 6 97434544 97434544 single base substitution A G intron_variant ESAD-UK 6 97434656 97434656 single base substitution T A intron_variant ESAD-UK 6 97434822 97434822 single base substitution C A intron_variant ESAD-UK 6 97434842 97434842 single base substitution C T intron_variant ESAD-UK 6 97436888 97436888 single base substitution A C intron_variant ESAD-UK 6 97437598 97437598 single base substitution T A intron_variant ESAD-UK 6 97437828 97437828 single base substitution T G intron_variant ESAD-UK 6 97438226 97438226 deletion of <=200bp T - intron_variant ESAD-UK 6 97438254 97438254 single base substitution A C intron_variant ESAD-UK 6 97438286 97438286 single base substitution A G intron_variant ESAD-UK 6 97438481 97438481 single base substitution T A intron_variant ESAD-UK 6 97438481 97438481 single base substitution T C intron_variant ESAD-UK 6 97439068 97439068 single base substitution T C intron_variant ESAD-UK 6 97439121 97439121 single base substitution T G intron_variant ESAD-UK 6 97439289 97439289 single base substitution A T intron_variant ESAD-UK 6 97439868 97439868 single base substitution C T intron_variant ESAD-UK 6 97441125 97441125 single base substitution C T intron_variant ESAD-UK 6 97441188 97441188 single base substitution A C intron_variant ESAD-UK 6 97441226 97441226 single base substitution T C intron_variant ESAD-UK 6 97441539 97441539 single base substitution T C intron_variant ESAD-UK 6 97442281 97442281 single base substitution C A intron_variant ESAD-UK 6 97442294 97442294 insertion of <=200bp - T intron_variant ESAD-UK 6 97442997 97442997 single base substitution T A intron_variant ESAD-UK 6 97443383 97443383 single base substitution T C intron_variant ESAD-UK 6 97443879 97443879 single base substitution A G intron_variant ESAD-UK 6 97443961 97443961 single base substitution A C intron_variant ESAD-UK 6 97444185 97444185 single base substitution G A intron_variant ESAD-UK 6 97444736 97444736 single base substitution A C intron_variant ESAD-UK 6 97444787 97444787 single base substitution A C intron_variant ESAD-UK 6 97444787 97444787 single base substitution A G intron_variant ESAD-UK 6 97444980 97444980 single base substitution T C intron_variant ESAD-UK 6 97445782 97445782 single base substitution A T intron_variant ESAD-UK 6 97446112 97446112 single base substitution A C intron_variant ESAD-UK 6 97446622 97446622 single base substitution T C intron_variant ESAD-UK 6 97447462 97447462 single base substitution T G intron_variant ESAD-UK 6 97447761 97447761 single base substitution C T intron_variant ESAD-UK 6 97447762 97447762 single base substitution G A intron_variant ESAD-UK 6 97448986 97448986 single base substitution T C intron_variant ESAD-UK 6 97449580 97449580 single base substitution A T intron_variant ESAD-UK 6 97449727 97449727 single base substitution G A intron_variant ESAD-UK 6 97450124 97450124 single base substitution C A intron_variant ESAD-UK 6 97450461 97450461 single base substitution G A intron_variant ESAD-UK 6 97450631 97450631 single base substitution T G intron_variant ESAD-UK 6 97451993 97451993 single base substitution A G intron_variant ESAD-UK 6 97452768 97452768 single base substitution A T intron_variant ESAD-UK 6 97452923 97452923 single base substitution G T intron_variant ESAD-UK 6 97453238 97453238 single base substitution T G intron_variant ESAD-UK 6 97453582 97453582 single base substitution T C intron_variant ESAD-UK 6 97453692 97453692 single base substitution T C intron_variant ESAD-UK 6 97453744 97453744 deletion of <=200bp T - intron_variant ESAD-UK 6 97454183 97454183 single base substitution T C intron_variant ESAD-UK 6 97454675 97454675 single base substitution A G intron_variant ESAD-UK 6 97456027 97456027 single base substitution G A intron_variant ESAD-UK 6 97456142 97456142 single base substitution T C intron_variant ESAD-UK 6 97456172 97456172 single base substitution A C intron_variant ESAD-UK 6 97456516 97456516 single base substitution T G intron_variant ESAD-UK 6 97456779 97456779 single base substitution G A intron_variant ESAD-UK 6 97456906 97456906 single base substitution G A intron_variant ESAD-UK 6 97457665 97457665 single base substitution G T intron_variant ESAD-UK 6 97457669 97457669 single base substitution G A intron_variant ESAD-UK 6 97457739 97457739 single base substitution C T intron_variant ESAD-UK 6 97457757 97457757 single base substitution A T intron_variant ESAD-UK 6 97457897 97457897 single base substitution G T intron_variant ESAD-UK 6 97458278 97458278 single base substitution C A intron_variant ESAD-UK 6 97458426 97458426 single base substitution A G intron_variant ESAD-UK 6 97458494 97458494 single base substitution T C intron_variant ESAD-UK 6 97458587 97458587 single base substitution T C intron_variant ESAD-UK 6 97458775 97458775 single base substitution A C intron_variant ESAD-UK 6 97458987 97458987 single base substitution A C intron_variant ESAD-UK 6 97459405 97459405 single base substitution A G intron_variant ESAD-UK 6 97460109 97460109 single base substitution A C intron_variant ESAD-UK 6 97461393 97461393 single base substitution A C intron_variant ESAD-UK 6 97462019 97462019 single base substitution A C intron_variant ESAD-UK 6 97463243 97463243 single base substitution A G intron_variant ESAD-UK 6 97463493 97463493 single base substitution A C intron_variant ESAD-UK 6 97463592 97463592 single base substitution G T intron_variant ESAD-UK 6 97463682 97463682 single base substitution A T intron_variant ESAD-UK 6 97463756 97463756 single base substitution C A intron_variant ESAD-UK 6 97464574 97464574 single base substitution G T intron_variant ESAD-UK 6 97464684 97464684 single base substitution T G intron_variant ESAD-UK 6 97464768 97464768 single base substitution C A intron_variant ESAD-UK 6 97465024 97465024 single base substitution A G intron_variant ESAD-UK 6 97465062 97465062 deletion of <=200bp A - intron_variant ESAD-UK 6 97465743 97465743 single base substitution C G intron_variant ESAD-UK 6 97466054 97466054 single base substitution C G intron_variant ESAD-UK 6 97466591 97466591 single base substitution A C intron_variant ESAD-UK 6 97466671 97466671 single base substitution A G intron_variant ESAD-UK 6 97466782 97466782 single base substitution T G intron_variant ESAD-UK 6 97466827 97466827 single base substitution C T intron_variant ESAD-UK 6 97467110 97467110 single base substitution G T intron_variant ESAD-UK 6 97467256 97467256 single base substitution C T intron_variant ESAD-UK 6 97468262 97468262 single base substitution T C intron_variant ESAD-UK 6 97468319 97468319 deletion of <=200bp A - intron_variant ESAD-UK 6 97468387 97468387 single base substitution T A intron_variant ESAD-UK 6 97468554 97468554 single base substitution C G intron_variant ESAD-UK 6 97469798 97469798 single base substitution T G intron_variant ESAD-UK 6 97471528 97471528 single base substitution T C intron_variant ESAD-UK 6 97471550 97471550 single base substitution T C intron_variant ESAD-UK 6 97472934 97472934 single base substitution G A intron_variant ESAD-UK 6 97473909 97473909 single base substitution A T intron_variant ESAD-UK 6 97473950 97473950 single base substitution A C intron_variant ESAD-UK 6 97474360 97474360 single base substitution A C intron_variant ESAD-UK 6 97474961 97474961 single base substitution C T intron_variant ESAD-UK 6 97475193 97475193 single base substitution T G intron_variant ESAD-UK 6 97475319 97475319 deletion of <=200bp T - intron_variant ESAD-UK 6 97475680 97475680 single base substitution G A intron_variant ESAD-UK 6 97475904 97475904 single base substitution G A intron_variant ESAD-UK 6 97475938 97475938 single base substitution C A intron_variant ESAD-UK 6 97476029 97476029 single base substitution T G intron_variant ESAD-UK 6 97476506 97476506 single base substitution A G intron_variant ESAD-UK 6 97476581 97476581 single base substitution A G intron_variant ESAD-UK 6 97476772 97476772 single base substitution T C intron_variant ESAD-UK 6 97476978 97476978 single base substitution T A intron_variant ESAD-UK 6 97477203 97477203 single base substitution A T intron_variant ESAD-UK 6 97478445 97478445 single base substitution C T intron_variant ESAD-UK 6 97478474 97478474 single base substitution A T intron_variant ESAD-UK 6 97478671 97478671 single base substitution A C intron_variant ESAD-UK 6 97479110 97479110 single base substitution T C intron_variant ESAD-UK 6 97479379 97479379 insertion of <=200bp - G intron_variant ESAD-UK 6 97479383 97479383 single base substitution T A intron_variant ESAD-UK 6 97480186 97480186 single base substitution G T intron_variant ESAD-UK 6 97482112 97482112 single base substitution G A intron_variant ESAD-UK 6 97482595 97482595 single base substitution T G intron_variant ESAD-UK 6 97482624 97482624 insertion of <=200bp - TTATA intron_variant ESAD-UK 6 97483404 97483404 single base substitution A G intron_variant ESAD-UK 6 97483445 97483445 single base substitution C G intron_variant ESAD-UK 6 97483917 97483917 single base substitution T A intron_variant ESAD-UK 6 97483929 97483929 single base substitution A G intron_variant ESAD-UK 6 97483941 97483941 single base substitution G A intron_variant ESAD-UK 6 97484604 97484604 single base substitution A G intron_variant ESAD-UK 6 97484665 97484665 single base substitution A C intron_variant ESAD-UK 6 97485020 97485020 single base substitution A T intron_variant ESAD-UK 6 97485094 97485094 single base substitution T G intron_variant ESAD-UK 6 97485128 97485128 single base substitution C A intron_variant ESAD-UK 6 97486284 97486284 deletion of <=200bp A - intron_variant ESAD-UK 6 97487204 97487204 deletion of <=200bp A - intron_variant ESAD-UK 6 97488244 97488244 single base substitution A T intron_variant ESAD-UK 6 97488481 97488481 single base substitution G A intron_variant ESAD-UK 6 97488533 97488533 single base substitution G A intron_variant ESAD-UK 6 97488610 97488610 single base substitution A G intron_variant ESAD-UK 6 97488716 97488716 single base substitution C T intron_variant ESAD-UK 6 97488814 97488814 single base substitution A C intron_variant ESAD-UK 6 97488919 97488919 single base substitution A C intron_variant ESAD-UK 6 97489047 97489047 single base substitution T G intron_variant ESAD-UK 6 97489219 97489219 single base substitution G C intron_variant ESAD-UK 6 97490228 97490228 single base substitution A C intron_variant ESAD-UK 6 97490501 97490501 deletion of <=200bp T - intron_variant ESAD-UK 6 97490636 97490636 single base substitution A G intron_variant ESAD-UK 6 97490698 97490698 single base substitution C A intron_variant ESAD-UK 6 97491610 97491610 insertion of <=200bp - T intron_variant ESAD-UK 6 97491695 97491695 single base substitution C T intron_variant ESAD-UK 6 97491859 97491859 single base substitution T G intron_variant ESAD-UK 6 97492884 97492884 single base substitution A G intron_variant ESAD-UK 6 97493136 97493136 single base substitution C A intron_variant ESAD-UK 6 97493170 97493170 single base substitution A G intron_variant ESAD-UK 6 97494163 97494163 single base substitution A G intron_variant ESAD-UK 6 97494447 97494447 single base substitution A C intron_variant ESAD-UK 6 97494532 97494532 single base substitution C T intron_variant ESAD-UK 6 97494681 97494681 single base substitution T G intron_variant ESAD-UK 6 97494690 97494690 single base substitution T G intron_variant ESAD-UK 6 97495497 97495497 single base substitution A C intron_variant ESAD-UK 6 97496529 97496529 single base substitution A G intron_variant ESAD-UK 6 97496551 97496551 single base substitution C A intron_variant ESAD-UK 6 97497332 97497332 single base substitution G T intron_variant ESAD-UK 6 97497670 97497670 single base substitution C G intron_variant ESAD-UK 6 97498145 97498145 single base substitution C T intron_variant ESAD-UK 6 97498254 97498254 single base substitution A C intron_variant ESAD-UK 6 97499076 97499076 single base substitution G A intron_variant ESAD-UK 6 97500298 97500298 single base substitution G T intron_variant ESAD-UK 6 97500478 97500478 single base substitution C T intron_variant ESAD-UK 6 97500488 97500488 single base substitution C T intron_variant ESAD-UK 6 97502205 97502205 single base substitution T G intron_variant ESAD-UK 6 97502472 97502472 single base substitution G C intron_variant ESAD-UK 6 97502841 97502858 deletion of <=200bp TGATTCCAGCTTGTGGCA - intron_variant ESAD-UK 6 97503060 97503060 single base substitution T C intron_variant ESAD-UK 6 97503094 97503094 single base substitution C A intron_variant ESAD-UK 6 97503174 97503174 single base substitution C T intron_variant ESAD-UK 6 97503386 97503386 single base substitution T G intron_variant ESAD-UK 6 97506087 97506087 single base substitution G C intron_variant ESAD-UK 6 97506333 97506333 single base substitution A C intron_variant ESAD-UK 6 97506850 97506850 single base substitution C A intron_variant ESAD-UK 6 97507007 97507007 single base substitution C T intron_variant ESAD-UK 6 97507682 97507682 single base substitution G A intron_variant ESAD-UK 6 97507682 97507682 single base substitution G A upstream_gene_variant ESAD-UK 6 97507684 97507684 single base substitution T C intron_variant ESAD-UK 6 97507684 97507684 single base substitution T C upstream_gene_variant ESAD-UK 6 97508345 97508345 single base substitution C T intron_variant ESAD-UK 6 97508345 97508345 single base substitution C T upstream_gene_variant ESAD-UK 6 97509735 97509735 single base substitution A G intron_variant ESAD-UK 6 97509735 97509735 single base substitution A G upstream_gene_variant ESAD-UK 6 97510644 97510644 single base substitution A G intron_variant ESAD-UK 6 97510644 97510644 single base substitution A G upstream_gene_variant ESAD-UK 6 97510729 97510729 single base substitution G T intron_variant ESAD-UK 6 97510729 97510729 single base substitution G T upstream_gene_variant ESAD-UK 6 97511837 97511837 single base substitution C A intron_variant ESAD-UK 6 97511837 97511837 single base substitution C A upstream_gene_variant ESAD-UK 6 97511888 97511888 single base substitution T C intron_variant ESAD-UK 6 97511888 97511888 single base substitution T C upstream_gene_variant ESAD-UK 6 97513091 97513091 single base substitution C T intron_variant ESAD-UK 6 97513663 97513663 single base substitution C G intron_variant ESAD-UK 6 97514451 97514451 single base substitution G T intron_variant ESAD-UK 6 97515319 97515319 deletion of <=200bp G - intron_variant ESAD-UK 6 97516138 97516138 single base substitution A C intron_variant ESAD-UK 6 97516340 97516340 insertion of <=200bp - A intron_variant ESAD-UK 6 97516905 97516905 deletion of <=200bp G - intron_variant ESAD-UK 6 97517143 97517143 single base substitution G A intron_variant ESAD-UK 6 97517260 97517260 single base substitution C G intron_variant ESAD-UK 6 97517633 97517633 single base substitution A T intron_variant ESAD-UK 6 97518885 97518885 single base substitution A G intron_variant ESAD-UK 6 97519110 97519110 single base substitution T G intron_variant ESAD-UK 6 97519722 97519722 single base substitution G C intron_variant ESAD-UK 6 97520074 97520074 single base substitution C A intron_variant ESAD-UK 6 97520292 97520292 single base substitution A T intron_variant ESAD-UK 6 97520816 97520816 single base substitution C G intron_variant ESAD-UK 6 97522140 97522140 single base substitution A C intron_variant ESAD-UK 6 97522379 97522379 single base substitution G A intron_variant ESAD-UK 6 97523665 97523665 single base substitution C T intron_variant ESAD-UK 6 97524843 97524843 single base substitution T G intron_variant ESAD-UK 6 97526376 97526376 single base substitution A C intron_variant ESAD-UK 6 97526481 97526481 single base substitution A C intron_variant ESAD-UK 6 97528636 97528636 single base substitution G A intron_variant ESAD-UK 6 97529188 97529188 single base substitution T C intron_variant ESAD-UK 6 97529188 97529188 single base substitution T G intron_variant ESAD-UK 6 97530049 97530049 single base substitution A G intron_variant ESAD-UK 6 97530218 97530218 single base substitution G A intron_variant ESAD-UK 6 97531137 97531137 single base substitution G A intron_variant ESAD-UK 6 97531660 97531660 single base substitution T A intron_variant ESAD-UK 6 97531701 97531701 single base substitution A C intron_variant ESAD-UK 6 97532782 97532782 single base substitution G A intron_variant ESAD-UK 6 97532862 97532862 single base substitution C A intron_variant ESAD-UK 6 97532937 97532937 single base substitution T A intron_variant ESAD-UK 6 97533496 97533496 single base substitution A C intron_variant ESAD-UK 6 97533536 97533536 single base substitution A G intron_variant ESAD-UK 6 97533591 97533591 single base substitution G A intron_variant ESAD-UK 6 97533639 97533639 single base substitution C A intron_variant ESAD-UK 6 97533795 97533795 single base substitution G A intron_variant ESAD-UK 6 97533970 97533970 single base substitution T A intron_variant ESAD-UK 6 97534012 97534012 single base substitution C T intron_variant ESAD-UK 6 97534311 97534311 single base substitution G A intron_variant ESAD-UK 6 97534407 97534407 single base substitution A C intron_variant ESAD-UK 6 97534648 97534648 single base substitution C G intron_variant ESAD-UK 6 97534824 97534824 single base substitution C T intron_variant ESAD-UK 6 97535107 97535107 single base substitution A C intron_variant ESAD-UK 6 97535301 97535301 single base substitution A C intron_variant ESAD-UK 6 97535535 97535535 single base substitution T G intron_variant ESAD-UK 6 97535910 97535910 single base substitution T G intron_variant ESAD-UK 6 97536381 97536381 single base substitution G T intron_variant ESAD-UK 6 97536615 97536615 single base substitution T G intron_variant ESAD-UK 6 97536644 97536644 single base substitution A C intron_variant ESAD-UK 6 97536648 97536648 single base substitution T C intron_variant ESAD-UK 6 97536839 97536839 single base substitution A G intron_variant ESAD-UK 6 97537154 97537154 single base substitution A C intron_variant ESAD-UK 6 97537614 97537614 single base substitution C A intron_variant ESAD-UK 6 97537615 97537615 single base substitution C G intron_variant ESAD-UK 6 97537725 97537725 single base substitution G A intron_variant ESAD-UK 6 97538554 97538554 single base substitution T C intron_variant ESAD-UK 6 97538740 97538740 single base substitution A T intron_variant ESAD-UK 6 97538804 97538804 single base substitution A G intron_variant ESAD-UK 6 97539089 97539089 insertion of <=200bp - A intron_variant ESAD-UK 6 97540034 97540034 single base substitution T G intron_variant ESAD-UK 6 97542739 97542739 single base substitution T C intron_variant ESAD-UK 6 97543872 97543872 single base substitution A G intron_variant ESAD-UK 6 97544010 97544010 single base substitution C T intron_variant ESAD-UK 6 97544035 97544035 single base substitution A C intron_variant ESAD-UK 6 97544313 97544313 single base substitution T G intron_variant ESAD-UK 6 97544678 97544678 single base substitution G C intron_variant ESAD-UK 6 97545003 97545003 single base substitution C A intron_variant ESAD-UK 6 97545152 97545152 single base substitution C T intron_variant ESAD-UK 6 97546049 97546049 single base substitution A C intron_variant ESAD-UK 6 97546336 97546336 single base substitution T A intron_variant ESAD-UK 6 97546748 97546748 single base substitution A G intron_variant ESAD-UK 6 97547137 97547137 single base substitution T C intron_variant ESAD-UK 6 97547974 97547974 single base substitution T C intron_variant ESAD-UK 6 97549190 97549190 single base substitution G T intron_variant ESAD-UK 6 97549555 97549555 single base substitution T A intron_variant ESAD-UK 6 97549898 97549898 single base substitution C T intron_variant ESAD-UK 6 97550305 97550305 single base substitution T G intron_variant ESAD-UK 6 97551192 97551192 single base substitution C T intron_variant ESAD-UK 6 97551612 97551612 single base substitution G A intron_variant ESAD-UK 6 97552720 97552720 single base substitution C T intron_variant ESAD-UK 6 97552880 97552880 single base substitution G A intron_variant ESAD-UK 6 97553213 97553213 single base substitution T C intron_variant ESAD-UK 6 97553815 97553815 single base substitution A C intron_variant ESAD-UK 6 97554508 97554508 single base substitution T C intron_variant ESAD-UK 6 97554571 97554571 single base substitution G T intron_variant ESAD-UK 6 97554595 97554595 single base substitution G A intron_variant ESAD-UK 6 97554897 97554897 single base substitution G A intron_variant ESAD-UK 6 97555323 97555323 single base substitution A C intron_variant ESAD-UK 6 97557293 97557293 single base substitution T A intron_variant ESAD-UK 6 97557362 97557362 single base substitution A T intron_variant ESAD-UK 6 97557701 97557701 single base substitution G A intron_variant ESAD-UK 6 97559701 97559701 single base substitution G T intron_variant ESAD-UK 6 97560264 97560264 single base substitution A C intron_variant ESAD-UK 6 97560641 97560641 single base substitution T A intron_variant ESAD-UK 6 97560642 97560642 single base substitution A T intron_variant ESAD-UK 6 97560643 97560643 single base substitution A T intron_variant ESAD-UK 6 97561189 97561189 single base substitution C T intron_variant ESAD-UK 6 97561816 97561816 single base substitution A C 3_prime_UTR_variant ESAD-UK 6 97561816 97561816 single base substitution A C intron_variant ESAD-UK 6 97561816 97561816 single base substitution A C missense_variant N193T 578A>C ESAD-UK 6 97561816 97561816 single base substitution A C missense_variant N226T 677A>C ESAD-UK 6 97561816 97561816 single base substitution A C missense_variant N262T 785A>C ESAD-UK 6 97561928 97561928 single base substitution C T 3_prime_UTR_variant ESAD-UK 6 97561928 97561928 single base substitution C T intron_variant ESAD-UK 6 97561928 97561928 single base substitution C T synonymous_variant R230R 690C>T ESAD-UK 6 97561928 97561928 single base substitution C T synonymous_variant R263R 789C>T ESAD-UK 6 97561928 97561928 single base substitution C T synonymous_variant R299R 897C>T ESAD-UK 6 97563127 97563127 single base substitution A G downstream_gene_variant ESAD-UK 6 97563127 97563127 single base substitution A G intron_variant ESAD-UK 6 97563142 97563142 single base substitution T C downstream_gene_variant ESAD-UK 6 97563142 97563142 single base substitution T C intron_variant ESAD-UK 6 97563867 97563867 single base substitution A T downstream_gene_variant ESAD-UK 6 97563867 97563867 single base substitution A T intron_variant ESAD-UK 6 97563868 97563868 single base substitution C T downstream_gene_variant ESAD-UK 6 97563868 97563868 single base substitution C T intron_variant ESAD-UK 6 97564889 97564889 single base substitution T G downstream_gene_variant ESAD-UK 6 97564889 97564889 single base substitution T G intron_variant ESAD-UK 6 97565125 97565125 single base substitution T A downstream_gene_variant ESAD-UK 6 97565125 97565125 single base substitution T A intron_variant ESAD-UK 6 97565806 97565806 single base substitution C A downstream_gene_variant ESAD-UK 6 97565806 97565806 single base substitution C A intron_variant ESAD-UK 6 97566005 97566005 single base substitution G T downstream_gene_variant ESAD-UK 6 97566005 97566005 single base substitution G T intron_variant ESAD-UK 6 97566560 97566560 single base substitution A G downstream_gene_variant ESAD-UK 6 97566560 97566560 single base substitution A G intron_variant ESAD-UK 6 97567561 97567561 single base substitution C A intron_variant ESAD-UK 6 97568646 97568646 single base substitution T C intron_variant ESAD-UK 6 97569226 97569226 single base substitution A C intron_variant ESAD-UK 6 97569912 97569912 single base substitution A C intron_variant ESAD-UK 6 97570049 97570049 single base substitution A C intron_variant ESAD-UK 6 97571100 97571100 single base substitution A C intron_variant ESAD-UK 6 97571185 97571185 single base substitution T G intron_variant ESAD-UK 6 97572048 97572048 single base substitution A G intron_variant ESAD-UK 6 97572057 97572057 single base substitution G T intron_variant ESAD-UK 6 97572262 97572262 single base substitution C G intron_variant ESAD-UK 6 97572419 97572419 single base substitution C A intron_variant ESAD-UK 6 97572854 97572854 single base substitution T G intron_variant ESAD-UK 6 97574517 97574517 single base substitution T C intron_variant ESAD-UK 6 97574908 97574908 single base substitution C T intron_variant ESAD-UK 6 97575158 97575158 single base substitution A C intron_variant ESAD-UK 6 97576265 97576265 single base substitution G A intron_variant ESAD-UK 6 97579689 97579689 insertion of <=200bp - C downstream_gene_variant ESAD-UK 6 97579689 97579689 insertion of <=200bp - C intron_variant ESAD-UK 6 97579874 97579874 single base substitution G C downstream_gene_variant ESAD-UK 6 97579874 97579874 single base substitution G C intron_variant ESAD-UK 6 97580703 97580703 single base substitution G A downstream_gene_variant ESAD-UK 6 97580703 97580703 single base substitution G A intron_variant ESAD-UK 6 97582490 97582490 single base substitution G T downstream_gene_variant ESAD-UK 6 97582490 97582490 single base substitution G T intron_variant ESAD-UK 6 97582587 97582587 single base substitution T A downstream_gene_variant ESAD-UK 6 97582587 97582587 single base substitution T A intron_variant ESAD-UK 6 97582623 97582623 single base substitution C A downstream_gene_variant ESAD-UK 6 97582623 97582623 single base substitution C A intron_variant ESAD-UK 6 97585425 97585425 single base substitution C T intron_variant ESAD-UK 6 97587383 97587383 single base substitution T G 3_prime_UTR_variant ESAD-UK 6 97587712 97587712 single base substitution G C 3_prime_UTR_variant ESAD-UK 6 97587712 97587712 single base substitution G C downstream_gene_variant ESAD-UK 6 97588021 97588021 single base substitution A T 3_prime_UTR_variant ESAD-UK 6 97588021 97588021 single base substitution A T downstream_gene_variant ESAD-UK 6 97588342 97588342 single base substitution G C 3_prime_UTR_variant ESAD-UK 6 97588342 97588342 single base substitution G C downstream_gene_variant ESAD-UK 6 97588584 97588584 deletion of <=200bp T - 3_prime_UTR_variant ESAD-UK 6 97588584 97588584 deletion of <=200bp T - downstream_gene_variant ESAD-UK 6 97590950 97590950 single base substitution T G downstream_gene_variant ESAD-UK 6 97591909 97591909 single base substitution A G downstream_gene_variant ESAD-UK 6 97592369 97592369 single base substitution G A downstream_gene_variant ESAD-UK 6 97593002 97593002 single base substitution C T downstream_gene_variant ESAD-UK 6 97593224 97593224 single base substitution C T downstream_gene_variant ESCA-CN 6 97512560 97512560 deletion of <=200bp G - 5_prime_UTR_variant ESCA-CN 6 97512560 97512560 deletion of <=200bp G - frameshift_variant Q123 ESCA-CN 6 97512560 97512560 deletion of <=200bp G - frameshift_variant Q19 ESCA-CN 6 97512560 97512560 deletion of <=200bp G - frameshift_variant Q87 ESCA-CN 6 97512560 97512560 deletion of <=200bp G - intron_variant ESCA-CN 6 97562164 97562164 single base substitution G A downstream_gene_variant ESCA-CN 6 97562164 97562164 single base substitution G A intron_variant ESCA-CN 6 97562164 97562164 single base substitution G A stop_gained W309* 926G>A ESCA-CN 6 97562164 97562164 single base substitution G A stop_gained W342* 1025G>A ESCA-CN 6 97562164 97562164 single base substitution G A stop_gained W378* 1133G>A KIRC-US 6 97423877 97423877 single base substitution C A 5_prime_UTR_variant KIRC-US 6 97423877 97423877 single base substitution C A missense_variant Q10K 28C>A KIRC-US 6 97562309 97562309 single base substitution G T downstream_gene_variant KIRC-US 6 97562309 97562309 single base substitution G T intron_variant KIRC-US 6 97562309 97562309 single base substitution G T missense_variant W357C 1071G>T KIRC-US 6 97562309 97562309 single base substitution G T missense_variant W390C 1170G>T KIRC-US 6 97562309 97562309 single base substitution G T missense_variant W426C 1278G>T KIRC-US 6 97587192 97587192 single base substitution A C 3_prime_UTR_variant KIRP-US 6 97562031 97562031 single base substitution G T 3_prime_UTR_variant KIRP-US 6 97562031 97562031 single base substitution G T intron_variant KIRP-US 6 97562031 97562031 single base substitution G T missense_variant V265L 793G>T KIRP-US 6 97562031 97562031 single base substitution G T missense_variant V298L 892G>T KIRP-US 6 97562031 97562031 single base substitution G T missense_variant V334L 1000G>T LAML-KR 6 97424051 97424051 single base substitution C T missense_variant R68W 202C>T LAML-KR 6 97424051 97424051 single base substitution C T splice_region_variant LAML-KR 6 97435753 97435753 single base substitution T C intron_variant LAML-KR 6 97436401 97436401 single base substitution C A intron_variant LAML-KR 6 97512694 97512694 single base substitution T C intron_variant LICA-CN 6 97489423 97489423 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant LICA-CN 6 97489423 97489423 single base substitution G C intron_variant LICA-CN 6 97489423 97489423 single base substitution G C missense_variant G87A 260G>C LICA-FR 6 97372678 97372683 deletion of <=200bp CACACA - 5_prime_UTR_variant LICA-FR 6 97372678 97372683 deletion of <=200bp CACACA - upstream_gene_variant LICA-FR 6 97380451 97380451 single base substitution C T intron_variant LICA-FR 6 97401528 97401528 single base substitution C T intron_variant LICA-FR 6 97430688 97430688 single base substitution C T intron_variant LICA-FR 6 97430885 97430885 single base substitution C T intron_variant LICA-FR 6 97433051 97433051 single base substitution T C intron_variant LICA-FR 6 97433102 97433102 single base substitution T A intron_variant LICA-FR 6 97433248 97433248 single base substitution G T intron_variant LICA-FR 6 97474430 97474430 single base substitution G T intron_variant LICA-FR 6 97474871 97474871 single base substitution C G intron_variant LICA-FR 6 97498279 97498279 single base substitution A T intron_variant LICA-FR 6 97498495 97498495 single base substitution A G intron_variant LICA-FR 6 97502935 97502935 single base substitution C T intron_variant LICA-FR 6 97510025 97510025 single base substitution C T intron_variant LICA-FR 6 97510025 97510025 single base substitution C T upstream_gene_variant LICA-FR 6 97517294 97517294 single base substitution G T intron_variant LICA-FR 6 97526977 97526977 single base substitution G A intron_variant LICA-FR 6 97539858 97539858 deletion of <=200bp T - intron_variant LICA-FR 6 97552948 97552948 single base substitution T G intron_variant LICA-FR 6 97563610 97563610 single base substitution C T downstream_gene_variant LICA-FR 6 97563610 97563610 single base substitution C T intron_variant LICA-FR 6 97566937 97566937 single base substitution G A downstream_gene_variant LICA-FR 6 97566937 97566937 single base substitution G A intron_variant LIHC-US 6 97512550 97512550 single base substitution G T 5_prime_UTR_variant LIHC-US 6 97512550 97512550 single base substitution G T intron_variant LIHC-US 6 97512550 97512550 single base substitution G T missense_variant S120I 359G>T LIHC-US 6 97512550 97512550 single base substitution G T missense_variant S16I 47G>T LIHC-US 6 97512550 97512550 single base substitution G T missense_variant S84I 251G>T LIHC-US 6 97561726 97561726 single base substitution G A intron_variant LIHC-US 6 97561726 97561726 single base substitution G A missense_variant R163H 488G>A LIHC-US 6 97561726 97561726 single base substitution G A missense_variant R196H 587G>A LIHC-US 6 97561726 97561726 single base substitution G A missense_variant R232H 695G>A LIHC-US 6 97561726 97561726 single base substitution G A synonymous_variant P154P 462G>A LINC-JP 6 97367681 97367681 single base substitution C G upstream_gene_variant LINC-JP 6 97378266 97378266 single base substitution G T intron_variant LINC-JP 6 97379488 97379488 single base substitution T C intron_variant LINC-JP 6 97394359 97394359 single base substitution A G intron_variant LINC-JP 6 97398629 97398629 single base substitution A T intron_variant LINC-JP 6 97417592 97417592 single base substitution C T intron_variant LINC-JP 6 97422345 97422345 single base substitution T A intron_variant LINC-JP 6 97424512 97424512 single base substitution C A intron_variant LINC-JP 6 97426368 97426368 single base substitution G A intron_variant LINC-JP 6 97432409 97432409 single base substitution G T intron_variant LINC-JP 6 97432410 97432410 single base substitution G T intron_variant LINC-JP 6 97463862 97463862 single base substitution C G intron_variant LINC-JP 6 97477275 97477275 single base substitution G T intron_variant LINC-JP 6 97486008 97486008 single base substitution A G intron_variant LINC-JP 6 97488954 97488954 single base substitution T C intron_variant LINC-JP 6 97489185 97489185 single base substitution A G intron_variant LINC-JP 6 97493268 97493268 single base substitution A T intron_variant LINC-JP 6 97494260 97494260 single base substitution C A intron_variant LINC-JP 6 97516528 97516528 single base substitution C T intron_variant LINC-JP 6 97518858 97518858 single base substitution A G intron_variant LINC-JP 6 97522480 97522480 insertion of <=200bp - A intron_variant LINC-JP 6 97528553 97528553 single base substitution C T intron_variant LINC-JP 6 97530502 97530502 single base substitution T A intron_variant LINC-JP 6 97538107 97538107 single base substitution T C intron_variant LINC-JP 6 97548972 97548972 single base substitution C G intron_variant LINC-JP 6 97562139 97562139 single base substitution C T downstream_gene_variant LINC-JP 6 97562139 97562139 single base substitution C T intron_variant LINC-JP 6 97562139 97562139 single base substitution C T missense_variant R301C 901C>T LINC-JP 6 97562139 97562139 single base substitution C T missense_variant R334C 1000C>T LINC-JP 6 97562139 97562139 single base substitution C T missense_variant R370C 1108C>T LINC-JP 6 97585036 97585036 single base substitution G A intron_variant LINC-JP 6 97585214 97585214 single base substitution T C intron_variant LINC-JP 6 97587062 97587062 single base substitution C A synonymous_variant S145S 435C>A LINC-JP 6 97587062 97587062 single base substitution C A synonymous_variant S520S 1560C>A LINC-JP 6 97587062 97587062 single base substitution C A synonymous_variant S553S 1659C>A LINC-JP 6 97587062 97587062 single base substitution C A synonymous_variant S589S 1767C>A LINC-JP 6 97590192 97590192 single base substitution A G downstream_gene_variant LINC-JP 6 97592947 97592947 single base substitution C A downstream_gene_variant LIRI-JP 6 97369024 97369024 single base substitution A G upstream_gene_variant LIRI-JP 6 97370048 97370048 single base substitution G A upstream_gene_variant LIRI-JP 6 97371493 97371493 single base substitution C T upstream_gene_variant LIRI-JP 6 97373357 97373375 deletion of <=200bp CGTCAGATGAATTTTTCAA - intron_variant LIRI-JP 6 97375148 97375148 single base substitution A G intron_variant LIRI-JP 6 97375633 97375633 single base substitution T A intron_variant LIRI-JP 6 97377587 97377587 single base substitution A G intron_variant LIRI-JP 6 97379914 97379914 single base substitution C T intron_variant LIRI-JP 6 97380009 97380009 single base substitution C T intron_variant LIRI-JP 6 97381277 97381277 single base substitution A T intron_variant LIRI-JP 6 97383884 97383884 single base substitution G T intron_variant LIRI-JP 6 97387918 97387918 single base substitution A G intron_variant LIRI-JP 6 97387946 97387946 single base substitution G A intron_variant LIRI-JP 6 97388982 97388982 single base substitution T A intron_variant LIRI-JP 6 97390772 97390772 single base substitution T C intron_variant LIRI-JP 6 97392201 97392201 single base substitution G A intron_variant LIRI-JP 6 97393006 97393006 single base substitution A G intron_variant LIRI-JP 6 97393590 97393590 single base substitution G T intron_variant LIRI-JP 6 97393855 97393855 single base substitution G A intron_variant LIRI-JP 6 97394800 97394800 insertion of <=200bp - C intron_variant LIRI-JP 6 97395777 97395777 single base substitution A G intron_variant LIRI-JP 6 97396346 97396346 single base substitution G A intron_variant LIRI-JP 6 97399162 97399162 single base substitution G A intron_variant LIRI-JP 6 97399411 97399411 single base substitution G A intron_variant LIRI-JP 6 97400052 97400052 single base substitution G T intron_variant LIRI-JP 6 97400260 97400260 single base substitution G T intron_variant LIRI-JP 6 97403352 97403352 single base substitution A T intron_variant LIRI-JP 6 97408245 97408245 single base substitution A C intron_variant LIRI-JP 6 97408404 97408404 single base substitution A G intron_variant LIRI-JP 6 97408840 97408840 single base substitution C G intron_variant LIRI-JP 6 97410080 97410080 single base substitution C A intron_variant LIRI-JP 6 97410080 97410080 single base substitution C A upstream_gene_variant LIRI-JP 6 97411318 97411318 single base substitution T C intron_variant LIRI-JP 6 97411318 97411318 single base substitution T C upstream_gene_variant LIRI-JP 6 97411557 97411557 single base substitution G A intron_variant LIRI-JP 6 97411557 97411557 single base substitution G A upstream_gene_variant LIRI-JP 6 97412345 97412345 single base substitution C T intron_variant LIRI-JP 6 97412345 97412345 single base substitution C T upstream_gene_variant LIRI-JP 6 97413683 97413683 single base substitution A T intron_variant LIRI-JP 6 97413683 97413683 single base substitution A T upstream_gene_variant LIRI-JP 6 97415415 97415415 single base substitution C A intron_variant LIRI-JP 6 97415775 97415775 single base substitution G T intron_variant LIRI-JP 6 97417440 97417440 single base substitution C G intron_variant LIRI-JP 6 97418771 97418771 single base substitution T C intron_variant LIRI-JP 6 97420116 97420116 single base substitution A T intron_variant LIRI-JP 6 97420209 97420209 single base substitution A G intron_variant LIRI-JP 6 97420779 97420779 single base substitution A G intron_variant LIRI-JP 6 97421925 97421925 single base substitution G A intron_variant LIRI-JP 6 97423510 97423510 single base substitution T C intron_variant LIRI-JP 6 97423985 97423985 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 6 97423985 97423985 single base substitution C T synonymous_variant L46L 136C>T LIRI-JP 6 97426455 97426455 single base substitution A T intron_variant LIRI-JP 6 97428713 97428713 single base substitution A C intron_variant LIRI-JP 6 97429120 97429120 single base substitution A G intron_variant LIRI-JP 6 97430439 97430439 single base substitution A G intron_variant LIRI-JP 6 97430945 97430945 single base substitution G A intron_variant LIRI-JP 6 97430985 97430985 single base substitution A G intron_variant LIRI-JP 6 97435877 97435877 single base substitution T A intron_variant LIRI-JP 6 97437666 97437666 single base substitution A G intron_variant LIRI-JP 6 97439167 97439167 single base substitution G A intron_variant LIRI-JP 6 97440886 97440886 single base substitution G T intron_variant LIRI-JP 6 97441382 97441382 single base substitution G T intron_variant LIRI-JP 6 97443716 97443716 single base substitution A C intron_variant LIRI-JP 6 97443952 97443952 single base substitution G T intron_variant LIRI-JP 6 97446140 97446140 single base substitution G A intron_variant LIRI-JP 6 97446904 97446904 single base substitution A G intron_variant LIRI-JP 6 97447576 97447576 single base substitution G A intron_variant LIRI-JP 6 97450281 97450281 single base substitution C T intron_variant LIRI-JP 6 97451369 97451369 single base substitution G T intron_variant LIRI-JP 6 97451936 97451936 single base substitution T C intron_variant LIRI-JP 6 97452727 97452727 single base substitution T A intron_variant LIRI-JP 6 97453957 97453957 single base substitution C T intron_variant LIRI-JP 6 97454212 97454212 single base substitution C A intron_variant LIRI-JP 6 97456475 97456475 single base substitution G C intron_variant LIRI-JP 6 97457642 97457642 single base substitution C A intron_variant LIRI-JP 6 97459470 97459470 single base substitution C T intron_variant LIRI-JP 6 97459829 97459829 single base substitution A T intron_variant LIRI-JP 6 97460004 97460004 single base substitution C T intron_variant LIRI-JP 6 97460029 97460029 single base substitution T A intron_variant LIRI-JP 6 97461926 97461926 single base substitution T C intron_variant LIRI-JP 6 97463596 97463596 single base substitution A G intron_variant LIRI-JP 6 97463693 97463693 single base substitution G A intron_variant LIRI-JP 6 97469118 97469118 single base substitution C T intron_variant LIRI-JP 6 97470638 97470638 single base substitution G A intron_variant LIRI-JP 6 97471565 97471565 single base substitution C G intron_variant LIRI-JP 6 97473569 97473569 single base substitution T A intron_variant LIRI-JP 6 97474596 97474596 single base substitution A G intron_variant LIRI-JP 6 97476789 97476789 single base substitution A G intron_variant LIRI-JP 6 97481687 97481687 single base substitution T A intron_variant LIRI-JP 6 97481963 97481963 single base substitution A T intron_variant LIRI-JP 6 97482302 97482302 single base substitution A G intron_variant LIRI-JP 6 97482602 97482602 single base substitution A G intron_variant LIRI-JP 6 97484950 97484950 single base substitution A G intron_variant LIRI-JP 6 97486163 97486163 single base substitution A G intron_variant LIRI-JP 6 97486470 97486470 single base substitution G A intron_variant LIRI-JP 6 97487684 97487684 single base substitution A C intron_variant LIRI-JP 6 97488428 97488428 single base substitution A G intron_variant LIRI-JP 6 97490497 97490497 single base substitution C T intron_variant LIRI-JP 6 97491534 97491534 single base substitution G T intron_variant LIRI-JP 6 97493121 97493121 single base substitution C A intron_variant LIRI-JP 6 97493371 97493372 deletion of <=200bp AA - intron_variant LIRI-JP 6 97493976 97493976 single base substitution G A intron_variant LIRI-JP 6 97495773 97495773 single base substitution G T intron_variant LIRI-JP 6 97498065 97498065 single base substitution A G intron_variant LIRI-JP 6 97498682 97498682 single base substitution C T intron_variant LIRI-JP 6 97500621 97500621 single base substitution T C intron_variant LIRI-JP 6 97501116 97501116 single base substitution T C intron_variant LIRI-JP 6 97501944 97501944 single base substitution T C intron_variant LIRI-JP 6 97502367 97502367 single base substitution C T intron_variant LIRI-JP 6 97502694 97502694 single base substitution A G intron_variant LIRI-JP 6 97502694 97502694 single base substitution A T intron_variant LIRI-JP 6 97502994 97502994 single base substitution T A intron_variant LIRI-JP 6 97503386 97503386 single base substitution T C intron_variant LIRI-JP 6 97504778 97504778 single base substitution G A intron_variant LIRI-JP 6 97515422 97515422 single base substitution C T intron_variant LIRI-JP 6 97515782 97515782 single base substitution A G intron_variant LIRI-JP 6 97524494 97524494 single base substitution A G intron_variant LIRI-JP 6 97524924 97524924 single base substitution C A intron_variant LIRI-JP 6 97525737 97525737 single base substitution G T intron_variant LIRI-JP 6 97530793 97530793 single base substitution C T intron_variant LIRI-JP 6 97531761 97531761 single base substitution G A intron_variant LIRI-JP 6 97534024 97534024 single base substitution C G intron_variant LIRI-JP 6 97534704 97534704 single base substitution G C intron_variant LIRI-JP 6 97534743 97534743 single base substitution A G intron_variant LIRI-JP 6 97535885 97535885 single base substitution C G intron_variant LIRI-JP 6 97537828 97537828 single base substitution G A intron_variant LIRI-JP 6 97538141 97538141 single base substitution A G intron_variant LIRI-JP 6 97540069 97540069 single base substitution G A intron_variant LIRI-JP 6 97540533 97540533 single base substitution G A intron_variant LIRI-JP 6 97543250 97543250 single base substitution C G intron_variant LIRI-JP 6 97545913 97545913 single base substitution A G intron_variant LIRI-JP 6 97547347 97547347 single base substitution G A intron_variant LIRI-JP 6 97547588 97547588 single base substitution G A intron_variant LIRI-JP 6 97550647 97550647 single base substitution C A intron_variant LIRI-JP 6 97552067 97552067 single base substitution A T intron_variant LIRI-JP 6 97553270 97553270 single base substitution T A intron_variant LIRI-JP 6 97556270 97556270 single base substitution G A intron_variant LIRI-JP 6 97556643 97556643 single base substitution G A intron_variant LIRI-JP 6 97559235 97559235 single base substitution G T intron_variant LIRI-JP 6 97559702 97559702 single base substitution G A intron_variant LIRI-JP 6 97561110 97561110 single base substitution T C intron_variant LIRI-JP 6 97563202 97563202 single base substitution T C downstream_gene_variant LIRI-JP 6 97563202 97563202 single base substitution T C intron_variant LIRI-JP 6 97563507 97563507 single base substitution A G downstream_gene_variant LIRI-JP 6 97563507 97563507 single base substitution A G intron_variant LIRI-JP 6 97564572 97564572 single base substitution G A downstream_gene_variant LIRI-JP 6 97564572 97564572 single base substitution G A intron_variant LIRI-JP 6 97564678 97564678 single base substitution C G downstream_gene_variant LIRI-JP 6 97564678 97564678 single base substitution C G intron_variant LIRI-JP 6 97565463 97565463 single base substitution T G downstream_gene_variant LIRI-JP 6 97565463 97565463 single base substitution T G intron_variant LIRI-JP 6 97565531 97565531 single base substitution G A downstream_gene_variant LIRI-JP 6 97565531 97565531 single base substitution G A intron_variant LIRI-JP 6 97567440 97567440 single base substitution A C intron_variant LIRI-JP 6 97568282 97568282 insertion of <=200bp - T intron_variant LIRI-JP 6 97568601 97568601 single base substitution A T intron_variant LIRI-JP 6 97570043 97570043 single base substitution G A intron_variant LIRI-JP 6 97570089 97570089 single base substitution T A intron_variant LIRI-JP 6 97570471 97570471 single base substitution G T intron_variant LIRI-JP 6 97570659 97570659 single base substitution G T intron_variant LIRI-JP 6 97571406 97571406 single base substitution T A intron_variant LIRI-JP 6 97572340 97572340 single base substitution G A intron_variant LIRI-JP 6 97575904 97575904 single base substitution A G intron_variant LIRI-JP 6 97576385 97576385 single base substitution G A intron_variant LIRI-JP 6 97576944 97576944 single base substitution G T intron_variant LIRI-JP 6 97578960 97578960 single base substitution G T downstream_gene_variant LIRI-JP 6 97578960 97578960 single base substitution G T intron_variant LIRI-JP 6 97579108 97579108 single base substitution G A downstream_gene_variant LIRI-JP 6 97579108 97579108 single base substitution G A intron_variant LIRI-JP 6 97581854 97581854 single base substitution T C downstream_gene_variant LIRI-JP 6 97581854 97581854 single base substitution T C intron_variant LIRI-JP 6 97583817 97583817 single base substitution T A downstream_gene_variant LIRI-JP 6 97583817 97583817 single base substitution T A intron_variant LIRI-JP 6 97584129 97584129 single base substitution C A intron_variant LIRI-JP 6 97586556 97586556 single base substitution A G intron_variant LIRI-JP 6 97588910 97588910 single base substitution A G downstream_gene_variant LIRI-JP 6 97591402 97591402 single base substitution C T downstream_gene_variant LUSC-KR 6 97367886 97367886 single base substitution A T upstream_gene_variant LUSC-KR 6 97368615 97368615 single base substitution A G upstream_gene_variant LUSC-KR 6 97372452 97372452 single base substitution G A upstream_gene_variant LUSC-KR 6 97373006 97373006 single base substitution G A intron_variant LUSC-KR 6 97381573 97381573 single base substitution G T intron_variant LUSC-KR 6 97382510 97382510 single base substitution G T intron_variant LUSC-KR 6 97385852 97385852 single base substitution C T intron_variant LUSC-KR 6 97385925 97385925 single base substitution A G intron_variant LUSC-KR 6 97388924 97388924 single base substitution T C intron_variant LUSC-KR 6 97389002 97389002 single base substitution C A intron_variant LUSC-KR 6 97389024 97389024 single base substitution G A intron_variant LUSC-KR 6 97390766 97390766 single base substitution G A intron_variant LUSC-KR 6 97391589 97391589 single base substitution C T intron_variant LUSC-KR 6 97393504 97393504 single base substitution C G intron_variant LUSC-KR 6 97394713 97394713 single base substitution A C intron_variant LUSC-KR 6 97394974 97394974 single base substitution C A intron_variant LUSC-KR 6 97395764 97395764 single base substitution G T intron_variant LUSC-KR 6 97396742 97396742 single base substitution C G intron_variant LUSC-KR 6 97396770 97396770 single base substitution G T intron_variant LUSC-KR 6 97398233 97398233 single base substitution T C intron_variant LUSC-KR 6 97401536 97401536 single base substitution A G intron_variant LUSC-KR 6 97403646 97403646 single base substitution C G intron_variant LUSC-KR 6 97406596 97406596 single base substitution G T intron_variant LUSC-KR 6 97407755 97407755 single base substitution G C intron_variant LUSC-KR 6 97407868 97407868 single base substitution G T intron_variant LUSC-KR 6 97409417 97409417 single base substitution G C intron_variant LUSC-KR 6 97410275 97410275 single base substitution A T intron_variant LUSC-KR 6 97410275 97410275 single base substitution A T upstream_gene_variant LUSC-KR 6 97410592 97410592 single base substitution C A intron_variant LUSC-KR 6 97410592 97410592 single base substitution C A upstream_gene_variant LUSC-KR 6 97412357 97412357 single base substitution G T intron_variant LUSC-KR 6 97412357 97412357 single base substitution G T upstream_gene_variant LUSC-KR 6 97412442 97412442 single base substitution T C intron_variant LUSC-KR 6 97412442 97412442 single base substitution T C upstream_gene_variant LUSC-KR 6 97415307 97415307 single base substitution A T intron_variant LUSC-KR 6 97416778 97416778 single base substitution G T intron_variant LUSC-KR 6 97418263 97418263 single base substitution G A intron_variant LUSC-KR 6 97420557 97420557 single base substitution G C intron_variant LUSC-KR 6 97420602 97420602 single base substitution G C intron_variant LUSC-KR 6 97421502 97421502 single base substitution C G intron_variant LUSC-KR 6 97421568 97421568 single base substitution C A intron_variant LUSC-KR 6 97423377 97423377 single base substitution G C intron_variant LUSC-KR 6 97427903 97427903 single base substitution G T intron_variant LUSC-KR 6 97428221 97428221 single base substitution A C intron_variant LUSC-KR 6 97429972 97429972 single base substitution G T intron_variant LUSC-KR 6 97430315 97430315 single base substitution G T intron_variant LUSC-KR 6 97430355 97430355 single base substitution C A intron_variant LUSC-KR 6 97430688 97430688 single base substitution C T intron_variant LUSC-KR 6 97430924 97430924 single base substitution C T intron_variant LUSC-KR 6 97431490 97431490 single base substitution G T intron_variant LUSC-KR 6 97431939 97431939 single base substitution G T intron_variant LUSC-KR 6 97432842 97432842 single base substitution C T intron_variant LUSC-KR 6 97433051 97433051 single base substitution T C intron_variant LUSC-KR 6 97433766 97433766 single base substitution G A intron_variant LUSC-KR 6 97434167 97434167 single base substitution G T intron_variant LUSC-KR 6 97434942 97434942 single base substitution C T intron_variant LUSC-KR 6 97435467 97435467 single base substitution G T intron_variant LUSC-KR 6 97435468 97435468 single base substitution G T intron_variant LUSC-KR 6 97435716 97435716 single base substitution C A intron_variant LUSC-KR 6 97435731 97435731 single base substitution G C intron_variant LUSC-KR 6 97435753 97435753 single base substitution T C intron_variant LUSC-KR 6 97435943 97435943 single base substitution C T intron_variant LUSC-KR 6 97436260 97436260 single base substitution C T intron_variant LUSC-KR 6 97436373 97436373 single base substitution C A intron_variant LUSC-KR 6 97436401 97436401 single base substitution C A intron_variant LUSC-KR 6 97436644 97436644 single base substitution G T intron_variant LUSC-KR 6 97437281 97437281 single base substitution A T intron_variant LUSC-KR 6 97439436 97439436 single base substitution C A intron_variant LUSC-KR 6 97444195 97444195 single base substitution G C intron_variant LUSC-KR 6 97444706 97444706 single base substitution T A intron_variant LUSC-KR 6 97445096 97445096 single base substitution G T intron_variant LUSC-KR 6 97447235 97447235 single base substitution G C intron_variant LUSC-KR 6 97447337 97447337 single base substitution A C intron_variant LUSC-KR 6 97450035 97450035 single base substitution T A intron_variant LUSC-KR 6 97450211 97450211 single base substitution G T intron_variant LUSC-KR 6 97451665 97451665 single base substitution T C intron_variant LUSC-KR 6 97453111 97453111 single base substitution C A intron_variant LUSC-KR 6 97453575 97453575 single base substitution C G intron_variant LUSC-KR 6 97453718 97453718 single base substitution G A intron_variant LUSC-KR 6 97454907 97454907 single base substitution G T intron_variant LUSC-KR 6 97456014 97456014 single base substitution G T intron_variant LUSC-KR 6 97459744 97459744 single base substitution A G intron_variant LUSC-KR 6 97460798 97460798 single base substitution C A intron_variant LUSC-KR 6 97461234 97461234 single base substitution C T intron_variant LUSC-KR 6 97463405 97463405 single base substitution C A intron_variant LUSC-KR 6 97464280 97464280 single base substitution G C intron_variant LUSC-KR 6 97464595 97464595 single base substitution A T intron_variant LUSC-KR 6 97465417 97465417 single base substitution G T intron_variant LUSC-KR 6 97465581 97465581 single base substitution A G intron_variant LUSC-KR 6 97466284 97466284 single base substitution G T intron_variant LUSC-KR 6 97466329 97466329 single base substitution C G intron_variant LUSC-KR 6 97467189 97467189 single base substitution A T intron_variant LUSC-KR 6 97467695 97467695 single base substitution C G intron_variant LUSC-KR 6 97469777 97469777 single base substitution C T intron_variant LUSC-KR 6 97469835 97469835 single base substitution C A intron_variant LUSC-KR 6 97470958 97470958 single base substitution C A intron_variant LUSC-KR 6 97472711 97472711 single base substitution G T intron_variant LUSC-KR 6 97472876 97472876 single base substitution G T intron_variant LUSC-KR 6 97473222 97473222 single base substitution G T intron_variant LUSC-KR 6 97474755 97474755 single base substitution C A intron_variant LUSC-KR 6 97475082 97475082 single base substitution G T intron_variant LUSC-KR 6 97475112 97475112 single base substitution T A intron_variant LUSC-KR 6 97475317 97475317 single base substitution A G intron_variant LUSC-KR 6 97479311 97479311 single base substitution A C intron_variant LUSC-KR 6 97479807 97479807 single base substitution A G intron_variant LUSC-KR 6 97482909 97482909 single base substitution G A intron_variant LUSC-KR 6 97483048 97483048 single base substitution G T intron_variant LUSC-KR 6 97484570 97484570 single base substitution G A intron_variant LUSC-KR 6 97486152 97486152 single base substitution A T intron_variant LUSC-KR 6 97487424 97487424 single base substitution G A intron_variant LUSC-KR 6 97487944 97487944 single base substitution C T intron_variant LUSC-KR 6 97489273 97489273 single base substitution G T intron_variant LUSC-KR 6 97490991 97490991 single base substitution C A intron_variant LUSC-KR 6 97491110 97491110 single base substitution C A intron_variant LUSC-KR 6 97495214 97495214 single base substitution A T intron_variant LUSC-KR 6 97495965 97495965 single base substitution G T intron_variant LUSC-KR 6 97497356 97497356 single base substitution A G intron_variant LUSC-KR 6 97498491 97498491 single base substitution T C intron_variant LUSC-KR 6 97498984 97498984 single base substitution G T intron_variant LUSC-KR 6 97501814 97501814 single base substitution A T intron_variant LUSC-KR 6 97502096 97502096 single base substitution G T intron_variant LUSC-KR 6 97502255 97502255 single base substitution A G intron_variant LUSC-KR 6 97503862 97503862 single base substitution C A intron_variant LUSC-KR 6 97504618 97504618 single base substitution T G intron_variant LUSC-KR 6 97505084 97505084 single base substitution G T intron_variant LUSC-KR 6 97506702 97506702 single base substitution G T intron_variant LUSC-KR 6 97508250 97508250 single base substitution G T intron_variant LUSC-KR 6 97508250 97508250 single base substitution G T upstream_gene_variant LUSC-KR 6 97513248 97513248 single base substitution C G intron_variant LUSC-KR 6 97515081 97515081 single base substitution A T intron_variant LUSC-KR 6 97515860 97515860 single base substitution G T intron_variant LUSC-KR 6 97516893 97516893 single base substitution G A intron_variant LUSC-KR 6 97516910 97516910 single base substitution G C intron_variant LUSC-KR 6 97517255 97517255 single base substitution G A intron_variant LUSC-KR 6 97517810 97517810 single base substitution T G intron_variant LUSC-KR 6 97518412 97518412 single base substitution C T intron_variant LUSC-KR 6 97521637 97521637 single base substitution C T intron_variant LUSC-KR 6 97526690 97526690 single base substitution C A intron_variant LUSC-KR 6 97527991 97527991 single base substitution A T intron_variant LUSC-KR 6 97530260 97530260 single base substitution C T intron_variant LUSC-KR 6 97531192 97531192 single base substitution G T intron_variant LUSC-KR 6 97531715 97531715 single base substitution C A intron_variant LUSC-KR 6 97533288 97533288 single base substitution G T intron_variant LUSC-KR 6 97533941 97533941 single base substitution C T intron_variant LUSC-KR 6 97537639 97537639 single base substitution G C intron_variant LUSC-KR 6 97537959 97537959 single base substitution A T intron_variant LUSC-KR 6 97538733 97538733 single base substitution G A intron_variant LUSC-KR 6 97542626 97542626 single base substitution G T intron_variant LUSC-KR 6 97542720 97542720 single base substitution A T intron_variant LUSC-KR 6 97543782 97543782 single base substitution T A intron_variant LUSC-KR 6 97545519 97545519 single base substitution T C intron_variant LUSC-KR 6 97545756 97545756 single base substitution C A intron_variant LUSC-KR 6 97546703 97546703 single base substitution T G intron_variant LUSC-KR 6 97547722 97547722 single base substitution C A intron_variant LUSC-KR 6 97549948 97549948 single base substitution C T intron_variant LUSC-KR 6 97550052 97550052 single base substitution C G intron_variant LUSC-KR 6 97552777 97552777 single base substitution G T intron_variant LUSC-KR 6 97553947 97553947 single base substitution A C intron_variant LUSC-KR 6 97555663 97555663 single base substitution T A intron_variant LUSC-KR 6 97556400 97556400 single base substitution T A intron_variant LUSC-KR 6 97556438 97556438 single base substitution T A intron_variant LUSC-KR 6 97558946 97558946 single base substitution G T intron_variant LUSC-KR 6 97560676 97560676 single base substitution A C intron_variant LUSC-KR 6 97560678 97560678 single base substitution G T intron_variant LUSC-KR 6 97560909 97560909 single base substitution T G intron_variant LUSC-KR 6 97561099 97561099 single base substitution G C intron_variant LUSC-KR 6 97561307 97561307 single base substitution G A intron_variant LUSC-KR 6 97562233 97562233 single base substitution A T downstream_gene_variant LUSC-KR 6 97562233 97562233 single base substitution A T intron_variant LUSC-KR 6 97562233 97562233 single base substitution A T missense_variant Y332F 995A>T LUSC-KR 6 97562233 97562233 single base substitution A T missense_variant Y365F 1094A>T LUSC-KR 6 97562233 97562233 single base substitution A T missense_variant Y401F 1202A>T LUSC-KR 6 97562813 97562813 single base substitution G T downstream_gene_variant LUSC-KR 6 97562813 97562813 single base substitution G T intron_variant LUSC-KR 6 97563965 97563965 single base substitution C A downstream_gene_variant LUSC-KR 6 97563965 97563965 single base substitution C A intron_variant LUSC-KR 6 97565319 97565319 single base substitution G T downstream_gene_variant LUSC-KR 6 97565319 97565319 single base substitution G T intron_variant LUSC-KR 6 97569628 97569628 single base substitution G A intron_variant LUSC-KR 6 97569787 97569787 single base substitution G C intron_variant LUSC-KR 6 97569946 97569946 single base substitution G A intron_variant LUSC-KR 6 97571505 97571505 single base substitution A T intron_variant LUSC-KR 6 97573555 97573555 single base substitution G C intron_variant LUSC-KR 6 97576621 97576621 single base substitution C A intron_variant LUSC-KR 6 97577271 97577271 single base substitution T A intron_variant LUSC-KR 6 97585072 97585072 single base substitution T A intron_variant LUSC-KR 6 97585554 97585554 single base substitution G A intron_variant LUSC-KR 6 97586204 97586204 single base substitution C T intron_variant LUSC-KR 6 97587528 97587528 single base substitution A G 3_prime_UTR_variant LUSC-KR 6 97587528 97587528 single base substitution A G downstream_gene_variant LUSC-KR 6 97592884 97592884 single base substitution T A downstream_gene_variant LUSC-US 6 97424046 97424046 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant LUSC-US 6 97424046 97424046 single base substitution A G missense_variant Y66C 197A>G LUSC-US 6 97489367 97489367 single base substitution G T intron_variant LUSC-US 6 97489367 97489367 single base substitution G T splice_acceptor_variant LUSC-US 6 97512545 97512545 deletion of <=200bp G - 5_prime_UTR_variant LUSC-US 6 97512545 97512545 deletion of <=200bp G - frameshift_variant A118 LUSC-US 6 97512545 97512545 deletion of <=200bp G - frameshift_variant A14 LUSC-US 6 97512545 97512545 deletion of <=200bp G - frameshift_variant A82 LUSC-US 6 97512545 97512545 deletion of <=200bp G - intron_variant LUSC-US 6 97512602 97512602 single base substitution G A intron_variant LUSC-US 6 97512602 97512602 single base substitution G A missense_variant G8S 22G>A LUSC-US 6 97512602 97512602 single base substitution G A splice_region_variant LUSC-US 6 97533046 97533046 single base substitution C T intron_variant LUSC-US 6 97533046 97533046 single base substitution C T synonymous_variant D116D 348C>T LUSC-US 6 97533046 97533046 single base substitution C T synonymous_variant D152D 456C>T LUSC-US 6 97533046 97533046 single base substitution C T synonymous_variant D48D 144C>T LUSC-US 6 97533046 97533046 single base substitution C T synonymous_variant D83D 249C>T LUSC-US 6 97561755 97561755 single base substitution C A intron_variant LUSC-US 6 97561755 97561755 single base substitution C A missense_variant H173N 517C>A LUSC-US 6 97561755 97561755 single base substitution C A missense_variant H206N 616C>A LUSC-US 6 97561755 97561755 single base substitution C A missense_variant H242N 724C>A LUSC-US 6 97561755 97561755 single base substitution C A missense_variant P164Q 491C>A LUSC-US 6 97561847 97561847 single base substitution T C 3_prime_UTR_variant LUSC-US 6 97561847 97561847 single base substitution T C intron_variant LUSC-US 6 97561847 97561847 single base substitution T C synonymous_variant Y203Y 609T>C LUSC-US 6 97561847 97561847 single base substitution T C synonymous_variant Y236Y 708T>C LUSC-US 6 97561847 97561847 single base substitution T C synonymous_variant Y272Y 816T>C LUSC-US 6 97562194 97562194 single base substitution G T downstream_gene_variant LUSC-US 6 97562194 97562194 single base substitution G T intron_variant LUSC-US 6 97562194 97562194 single base substitution G T missense_variant R319L 956G>T LUSC-US 6 97562194 97562194 single base substitution G T missense_variant R352L 1055G>T LUSC-US 6 97562194 97562194 single base substitution G T missense_variant R388L 1163G>T MALY-DE 6 97367753 97367753 single base substitution G C upstream_gene_variant MALY-DE 6 97372982 97372982 single base substitution G A intron_variant MALY-DE 6 97374695 97374695 insertion of <=200bp - T intron_variant MALY-DE 6 97377610 97377610 single base substitution C T intron_variant MALY-DE 6 97381902 97381902 single base substitution C T intron_variant MALY-DE 6 97398377 97398377 insertion of <=200bp - A intron_variant MALY-DE 6 97398947 97398947 single base substitution C G intron_variant MALY-DE 6 97399819 97399819 single base substitution C A intron_variant MALY-DE 6 97401288 97401288 single base substitution T G intron_variant MALY-DE 6 97401506 97401506 insertion of <=200bp - A intron_variant MALY-DE 6 97404251 97404251 single base substitution T A intron_variant MALY-DE 6 97415350 97415350 single base substitution T G intron_variant MALY-DE 6 97415352 97415352 single base substitution G T intron_variant MALY-DE 6 97418389 97418389 single base substitution T G intron_variant MALY-DE 6 97419971 97419971 single base substitution G A intron_variant MALY-DE 6 97426249 97426249 single base substitution T G intron_variant MALY-DE 6 97428644 97428644 single base substitution C T intron_variant MALY-DE 6 97429805 97429805 single base substitution G C intron_variant MALY-DE 6 97433435 97433435 deletion of <=200bp C - intron_variant MALY-DE 6 97434743 97434743 single base substitution G A intron_variant MALY-DE 6 97435053 97435053 deletion of <=200bp T - intron_variant MALY-DE 6 97439466 97439466 single base substitution C T intron_variant MALY-DE 6 97439875 97439875 single base substitution A C intron_variant MALY-DE 6 97441433 97441433 single base substitution A G intron_variant MALY-DE 6 97444401 97444401 single base substitution G A intron_variant MALY-DE 6 97451550 97451550 single base substitution G T intron_variant MALY-DE 6 97453463 97453463 single base substitution G A intron_variant MALY-DE 6 97453642 97453642 single base substitution A G intron_variant MALY-DE 6 97461656 97461656 single base substitution A C intron_variant MALY-DE 6 97461719 97461719 single base substitution T G intron_variant MALY-DE 6 97471266 97471266 single base substitution T G intron_variant MALY-DE 6 97472310 97472310 single base substitution A T intron_variant MALY-DE 6 97474984 97474984 single base substitution G T intron_variant MALY-DE 6 97481260 97481260 single base substitution G A intron_variant MALY-DE 6 97490501 97490501 insertion of <=200bp - T intron_variant MALY-DE 6 97491919 97491919 single base substitution C G intron_variant MALY-DE 6 97494348 97494348 single base substitution T G intron_variant MALY-DE 6 97500960 97500961 deletion of <=200bp AC - intron_variant MALY-DE 6 97519850 97519850 single base substitution T C intron_variant MALY-DE 6 97534737 97534737 insertion of <=200bp - A intron_variant MALY-DE 6 97536089 97536089 single base substitution A T intron_variant MALY-DE 6 97539487 97539487 single base substitution C A intron_variant MALY-DE 6 97550291 97550291 single base substitution C T intron_variant MALY-DE 6 97553863 97553863 single base substitution G A intron_variant MALY-DE 6 97556773 97556773 single base substitution A T intron_variant MALY-DE 6 97564279 97564279 single base substitution C A downstream_gene_variant MALY-DE 6 97564279 97564279 single base substitution C A intron_variant MALY-DE 6 97567520 97567520 single base substitution A G intron_variant MALY-DE 6 97588212 97588212 single base substitution A T 3_prime_UTR_variant MALY-DE 6 97588212 97588212 single base substitution A T downstream_gene_variant MALY-DE 6 97592614 97592614 single base substitution A T downstream_gene_variant MELA-AU 6 97367744 97367744 single base substitution C T upstream_gene_variant MELA-AU 6 97367951 97367951 single base substitution G A upstream_gene_variant MELA-AU 6 97368046 97368046 single base substitution G A upstream_gene_variant MELA-AU 6 97368251 97368251 single base substitution C T upstream_gene_variant MELA-AU 6 97368272 97368272 single base substitution C T upstream_gene_variant MELA-AU 6 97368291 97368291 single base substitution T G upstream_gene_variant MELA-AU 6 97368409 97368409 single base substitution C T upstream_gene_variant MELA-AU 6 97368411 97368411 single base substitution C T upstream_gene_variant MELA-AU 6 97368412 97368412 single base substitution C T upstream_gene_variant MELA-AU 6 97368431 97368431 single base substitution G A upstream_gene_variant MELA-AU 6 97368718 97368718 single base substitution C T upstream_gene_variant MELA-AU 6 97368858 97368858 single base substitution C T upstream_gene_variant MELA-AU 6 97368901 97368901 single base substitution C T upstream_gene_variant MELA-AU 6 97369133 97369133 single base substitution T G upstream_gene_variant MELA-AU 6 97369802 97369802 single base substitution T A upstream_gene_variant MELA-AU 6 97369876 97369876 single base substitution A T upstream_gene_variant MELA-AU 6 97370536 97370536 single base substitution C T upstream_gene_variant MELA-AU 6 97370560 97370560 single base substitution T A upstream_gene_variant MELA-AU 6 97370655 97370655 single base substitution G A upstream_gene_variant MELA-AU 6 97371249 97371249 single base substitution G C upstream_gene_variant MELA-AU 6 97372507 97372507 single base substitution C T upstream_gene_variant MELA-AU 6 97373825 97373825 single base substitution T A intron_variant MELA-AU 6 97374342 97374342 single base substitution C T intron_variant MELA-AU 6 97374610 97374610 single base substitution G A intron_variant MELA-AU 6 97375271 97375271 single base substitution A G intron_variant MELA-AU 6 97375381 97375381 single base substitution C T intron_variant MELA-AU 6 97375604 97375604 single base substitution C T intron_variant MELA-AU 6 97375820 97375820 single base substitution T C intron_variant MELA-AU 6 97376075 97376075 single base substitution C T intron_variant MELA-AU 6 97376138 97376138 single base substitution G A intron_variant MELA-AU 6 97376792 97376792 single base substitution G A intron_variant MELA-AU 6 97377063 97377063 single base substitution A T intron_variant MELA-AU 6 97377572 97377572 single base substitution C T intron_variant MELA-AU 6 97377773 97377773 single base substitution A C intron_variant MELA-AU 6 97377950 97377950 single base substitution C T intron_variant MELA-AU 6 97378623 97378623 single base substitution T C intron_variant MELA-AU 6 97378633 97378633 single base substitution G A intron_variant MELA-AU 6 97378969 97378969 single base substitution A G intron_variant MELA-AU 6 97379052 97379052 single base substitution C T intron_variant MELA-AU 6 97379578 97379578 single base substitution C T intron_variant MELA-AU 6 97379766 97379767 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 97379836 97379836 single base substitution G A intron_variant MELA-AU 6 97380636 97380636 single base substitution G A intron_variant MELA-AU 6 97381135 97381135 single base substitution C T intron_variant MELA-AU 6 97381157 97381157 single base substitution G A intron_variant MELA-AU 6 97381192 97381192 single base substitution G A intron_variant MELA-AU 6 97381408 97381408 single base substitution T C intron_variant MELA-AU 6 97381559 97381559 single base substitution C T intron_variant MELA-AU 6 97381581 97381581 single base substitution C T intron_variant MELA-AU 6 97381602 97381602 single base substitution C A intron_variant MELA-AU 6 97381804 97381804 single base substitution C T intron_variant MELA-AU 6 97382011 97382011 single base substitution C T intron_variant MELA-AU 6 97382706 97382706 single base substitution C T intron_variant MELA-AU 6 97382786 97382786 single base substitution T A intron_variant MELA-AU 6 97382930 97382930 single base substitution C T intron_variant MELA-AU 6 97383037 97383037 deletion of <=200bp A - intron_variant MELA-AU 6 97383514 97383514 single base substitution G T intron_variant MELA-AU 6 97383832 97383832 single base substitution A G intron_variant MELA-AU 6 97384443 97384443 single base substitution G A intron_variant MELA-AU 6 97384461 97384461 single base substitution C T intron_variant MELA-AU 6 97384557 97384557 single base substitution C T intron_variant MELA-AU 6 97384911 97384911 single base substitution C T intron_variant MELA-AU 6 97385205 97385205 single base substitution C T intron_variant MELA-AU 6 97385637 97385637 single base substitution C T intron_variant MELA-AU 6 97385676 97385676 single base substitution C T intron_variant MELA-AU 6 97385677 97385677 single base substitution C T intron_variant MELA-AU 6 97385888 97385888 single base substitution C T intron_variant MELA-AU 6 97386296 97386296 single base substitution C T intron_variant MELA-AU 6 97386382 97386382 single base substitution C T intron_variant MELA-AU 6 97386851 97386851 single base substitution C T intron_variant MELA-AU 6 97387489 97387489 single base substitution G A intron_variant MELA-AU 6 97387591 97387591 single base substitution A G intron_variant MELA-AU 6 97388009 97388009 single base substitution C T intron_variant MELA-AU 6 97388131 97388131 single base substitution T A intron_variant MELA-AU 6 97388158 97388158 single base substitution G A intron_variant MELA-AU 6 97388616 97388616 single base substitution C T intron_variant MELA-AU 6 97388661 97388661 single base substitution T G intron_variant MELA-AU 6 97388701 97388701 single base substitution C T intron_variant MELA-AU 6 97388948 97388948 single base substitution G C intron_variant MELA-AU 6 97389039 97389039 single base substitution A T intron_variant MELA-AU 6 97389318 97389318 single base substitution C T intron_variant MELA-AU 6 97389506 97389506 single base substitution C T intron_variant MELA-AU 6 97389845 97389845 single base substitution G A intron_variant MELA-AU 6 97389978 97389978 single base substitution C T intron_variant MELA-AU 6 97390653 97390653 single base substitution C T intron_variant MELA-AU 6 97390658 97390658 single base substitution G T intron_variant MELA-AU 6 97390731 97390731 single base substitution C T intron_variant MELA-AU 6 97391528 97391528 single base substitution T C intron_variant MELA-AU 6 97391559 97391559 single base substitution T G intron_variant MELA-AU 6 97391579 97391579 single base substitution C T intron_variant MELA-AU 6 97391797 97391797 single base substitution A C intron_variant MELA-AU 6 97391848 97391848 single base substitution A T intron_variant MELA-AU 6 97392622 97392622 single base substitution C T intron_variant MELA-AU 6 97392777 97392777 single base substitution C T intron_variant MELA-AU 6 97392918 97392918 single base substitution T C intron_variant MELA-AU 6 97393447 97393447 single base substitution G A intron_variant MELA-AU 6 97393503 97393504 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 97393515 97393515 single base substitution C T intron_variant MELA-AU 6 97393813 97393813 single base substitution G A intron_variant MELA-AU 6 97394565 97394565 single base substitution C T intron_variant MELA-AU 6 97394648 97394648 single base substitution C T intron_variant MELA-AU 6 97394753 97394753 single base substitution G C intron_variant MELA-AU 6 97395320 97395320 single base substitution T C intron_variant MELA-AU 6 97395351 97395351 single base substitution C T intron_variant MELA-AU 6 97396042 97396043 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 97396403 97396403 single base substitution C G intron_variant MELA-AU 6 97397643 97397643 single base substitution C T intron_variant MELA-AU 6 97397700 97397700 single base substitution G T intron_variant MELA-AU 6 97397946 97397946 single base substitution G A intron_variant MELA-AU 6 97397972 97397972 single base substitution A G intron_variant MELA-AU 6 97398076 97398076 single base substitution T C intron_variant MELA-AU 6 97398574 97398574 single base substitution C T intron_variant MELA-AU 6 97399398 97399398 single base substitution C T intron_variant MELA-AU 6 97399735 97399735 single base substitution C T intron_variant MELA-AU 6 97399786 97399786 single base substitution C T intron_variant MELA-AU 6 97399883 97399883 single base substitution C T intron_variant MELA-AU 6 97399896 97399896 single base substitution T A intron_variant MELA-AU 6 97401082 97401082 single base substitution C T intron_variant MELA-AU 6 97401327 97401327 single base substitution G A intron_variant MELA-AU 6 97401544 97401544 single base substitution C T intron_variant MELA-AU 6 97402042 97402042 single base substitution C T intron_variant MELA-AU 6 97402060 97402060 single base substitution G A intron_variant MELA-AU 6 97402531 97402531 single base substitution C T intron_variant MELA-AU 6 97402694 97402694 single base substitution C T intron_variant MELA-AU 6 97403047 97403047 single base substitution G A intron_variant MELA-AU 6 97403083 97403083 single base substitution C A intron_variant MELA-AU 6 97403406 97403406 single base substitution C T intron_variant MELA-AU 6 97403478 97403478 single base substitution C T intron_variant MELA-AU 6 97403890 97403890 single base substitution C T intron_variant MELA-AU 6 97403920 97403920 single base substitution C T intron_variant MELA-AU 6 97404035 97404035 single base substitution G A intron_variant MELA-AU 6 97404186 97404186 single base substitution G A intron_variant MELA-AU 6 97404598 97404598 single base substitution G A intron_variant MELA-AU 6 97404947 97404947 single base substitution G A intron_variant MELA-AU 6 97405036 97405036 single base substitution G A intron_variant MELA-AU 6 97405045 97405045 single base substitution A C intron_variant MELA-AU 6 97405429 97405429 single base substitution C T intron_variant MELA-AU 6 97405755 97405755 single base substitution C T intron_variant MELA-AU 6 97405923 97405923 single base substitution C T intron_variant MELA-AU 6 97406033 97406033 single base substitution C T intron_variant MELA-AU 6 97406191 97406191 single base substitution C T intron_variant MELA-AU 6 97406205 97406205 single base substitution A T intron_variant MELA-AU 6 97406350 97406350 single base substitution G A intron_variant MELA-AU 6 97407210 97407210 single base substitution G A intron_variant MELA-AU 6 97407384 97407384 single base substitution T C intron_variant MELA-AU 6 97407514 97407514 single base substitution G A intron_variant MELA-AU 6 97408082 97408082 single base substitution C T intron_variant MELA-AU 6 97408161 97408161 single base substitution C T intron_variant MELA-AU 6 97408250 97408250 single base substitution C T intron_variant MELA-AU 6 97408543 97408543 single base substitution C T intron_variant MELA-AU 6 97409106 97409106 single base substitution G A intron_variant MELA-AU 6 97409642 97409642 single base substitution G A intron_variant MELA-AU 6 97409730 97409730 single base substitution C T intron_variant MELA-AU 6 97409968 97409968 single base substitution A C intron_variant MELA-AU 6 97409968 97409968 single base substitution A C upstream_gene_variant MELA-AU 6 97410096 97410096 single base substitution A C intron_variant MELA-AU 6 97410096 97410096 single base substitution A C upstream_gene_variant MELA-AU 6 97410173 97410173 single base substitution G A intron_variant MELA-AU 6 97410173 97410173 single base substitution G A upstream_gene_variant MELA-AU 6 97411019 97411019 single base substitution C T intron_variant MELA-AU 6 97411019 97411019 single base substitution C T upstream_gene_variant MELA-AU 6 97411044 97411044 single base substitution G A intron_variant MELA-AU 6 97411044 97411044 single base substitution G A upstream_gene_variant MELA-AU 6 97411049 97411049 single base substitution C T intron_variant MELA-AU 6 97411049 97411049 single base substitution C T upstream_gene_variant MELA-AU 6 97411098 97411098 single base substitution G A intron_variant MELA-AU 6 97411098 97411098 single base substitution G A upstream_gene_variant MELA-AU 6 97411124 97411124 single base substitution G A intron_variant MELA-AU 6 97411124 97411124 single base substitution G A upstream_gene_variant MELA-AU 6 97411513 97411513 single base substitution C T intron_variant MELA-AU 6 97411513 97411513 single base substitution C T upstream_gene_variant MELA-AU 6 97411524 97411524 single base substitution C T intron_variant MELA-AU 6 97411524 97411524 single base substitution C T upstream_gene_variant MELA-AU 6 97411604 97411604 single base substitution C T intron_variant MELA-AU 6 97411604 97411604 single base substitution C T upstream_gene_variant MELA-AU 6 97411620 97411620 single base substitution C T intron_variant MELA-AU 6 97411620 97411620 single base substitution C T upstream_gene_variant MELA-AU 6 97412533 97412533 single base substitution G A intron_variant MELA-AU 6 97412533 97412533 single base substitution G A upstream_gene_variant MELA-AU 6 97412909 97412909 single base substitution C T intron_variant MELA-AU 6 97412909 97412909 single base substitution C T upstream_gene_variant MELA-AU 6 97412956 97412956 single base substitution G A intron_variant MELA-AU 6 97412956 97412956 single base substitution G A upstream_gene_variant MELA-AU 6 97412999 97412999 single base substitution C T intron_variant MELA-AU 6 97412999 97412999 single base substitution C T upstream_gene_variant MELA-AU 6 97413163 97413163 single base substitution T C intron_variant MELA-AU 6 97413163 97413163 single base substitution T C upstream_gene_variant MELA-AU 6 97413918 97413918 single base substitution G A intron_variant MELA-AU 6 97413918 97413918 single base substitution G A upstream_gene_variant MELA-AU 6 97413981 97413981 single base substitution C T intron_variant MELA-AU 6 97413981 97413981 single base substitution C T upstream_gene_variant MELA-AU 6 97414489 97414489 single base substitution G A intron_variant MELA-AU 6 97414489 97414489 single base substitution G A upstream_gene_variant MELA-AU 6 97414576 97414576 single base substitution C T intron_variant MELA-AU 6 97414576 97414576 single base substitution C T upstream_gene_variant MELA-AU 6 97414689 97414689 single base substitution C G intron_variant MELA-AU 6 97414689 97414689 single base substitution C G upstream_gene_variant MELA-AU 6 97414949 97414949 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 6 97414949 97414949 single base substitution C T missense_variant R5C 13C>T MELA-AU 6 97415066 97415066 single base substitution G A intron_variant MELA-AU 6 97415465 97415465 single base substitution C T intron_variant MELA-AU 6 97415876 97415876 single base substitution G A intron_variant MELA-AU 6 97416149 97416149 single base substitution G A intron_variant MELA-AU 6 97416282 97416282 single base substitution C T intron_variant MELA-AU 6 97416374 97416374 single base substitution C T intron_variant MELA-AU 6 97416689 97416689 single base substitution C T intron_variant MELA-AU 6 97416759 97416759 single base substitution G A intron_variant MELA-AU 6 97416992 97416992 single base substitution A G intron_variant MELA-AU 6 97417377 97417377 single base substitution C T intron_variant MELA-AU 6 97417685 97417685 single base substitution C G intron_variant MELA-AU 6 97417974 97417974 single base substitution C T intron_variant MELA-AU 6 97418274 97418274 single base substitution C T intron_variant MELA-AU 6 97418359 97418359 single base substitution C G intron_variant MELA-AU 6 97418441 97418441 single base substitution G C intron_variant MELA-AU 6 97418743 97418743 single base substitution G A intron_variant MELA-AU 6 97418792 97418792 single base substitution C T intron_variant MELA-AU 6 97418918 97418918 single base substitution C T intron_variant MELA-AU 6 97419441 97419441 single base substitution G A intron_variant MELA-AU 6 97419592 97419592 single base substitution C T intron_variant MELA-AU 6 97419918 97419918 single base substitution G A intron_variant MELA-AU 6 97420064 97420064 single base substitution A G intron_variant MELA-AU 6 97420500 97420500 single base substitution C T intron_variant MELA-AU 6 97420517 97420517 single base substitution C T intron_variant MELA-AU 6 97421234 97421234 single base substitution G A intron_variant MELA-AU 6 97421271 97421271 single base substitution C T intron_variant MELA-AU 6 97421453 97421453 single base substitution C T intron_variant MELA-AU 6 97421474 97421474 single base substitution T A intron_variant MELA-AU 6 97421561 97421561 single base substitution G C intron_variant MELA-AU 6 97421722 97421722 single base substitution C T intron_variant MELA-AU 6 97422319 97422319 single base substitution T A intron_variant MELA-AU 6 97422425 97422425 single base substitution C T intron_variant MELA-AU 6 97422547 97422547 single base substitution G A intron_variant MELA-AU 6 97422579 97422579 single base substitution G A intron_variant MELA-AU 6 97422748 97422748 single base substitution G A intron_variant MELA-AU 6 97423111 97423111 single base substitution T C intron_variant MELA-AU 6 97423206 97423206 single base substitution A T intron_variant MELA-AU 6 97423238 97423238 single base substitution C T intron_variant MELA-AU 6 97423840 97423840 single base substitution G A intron_variant MELA-AU 6 97424417 97424417 single base substitution T A intron_variant MELA-AU 6 97424934 97424934 single base substitution A C intron_variant MELA-AU 6 97426089 97426089 single base substitution G A intron_variant MELA-AU 6 97426152 97426152 single base substitution C T intron_variant MELA-AU 6 97426162 97426162 single base substitution C T intron_variant MELA-AU 6 97426602 97426602 single base substitution T C intron_variant MELA-AU 6 97427733 97427734 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 6 97428244 97428244 single base substitution G A intron_variant MELA-AU 6 97428249 97428249 single base substitution G A intron_variant MELA-AU 6 97428454 97428454 single base substitution G A intron_variant MELA-AU 6 97429004 97429004 single base substitution C T intron_variant MELA-AU 6 97429168 97429168 single base substitution T C intron_variant MELA-AU 6 97429264 97429264 single base substitution T C intron_variant MELA-AU 6 97429279 97429279 single base substitution C T intron_variant MELA-AU 6 97429388 97429388 single base substitution C T intron_variant MELA-AU 6 97429688 97429688 single base substitution G A intron_variant MELA-AU 6 97429749 97429749 single base substitution C T intron_variant MELA-AU 6 97430259 97430259 single base substitution C T intron_variant MELA-AU 6 97430741 97430741 single base substitution C T intron_variant MELA-AU 6 97431293 97431293 single base substitution C T intron_variant MELA-AU 6 97431330 97431330 single base substitution G T intron_variant MELA-AU 6 97431376 97431376 single base substitution C T intron_variant MELA-AU 6 97431435 97431435 single base substitution C T intron_variant MELA-AU 6 97431504 97431504 single base substitution G A intron_variant MELA-AU 6 97431518 97431518 single base substitution C T intron_variant MELA-AU 6 97431706 97431706 single base substitution C G intron_variant MELA-AU 6 97431753 97431753 single base substitution C T intron_variant MELA-AU 6 97431907 97431907 single base substitution C T intron_variant MELA-AU 6 97432049 97432049 single base substitution C T intron_variant MELA-AU 6 97432349 97432349 single base substitution G A intron_variant MELA-AU 6 97432350 97432350 single base substitution G A intron_variant MELA-AU 6 97432604 97432604 single base substitution G A intron_variant MELA-AU 6 97432668 97432668 single base substitution A T intron_variant MELA-AU 6 97432836 97432836 single base substitution C T intron_variant MELA-AU 6 97433150 97433150 single base substitution A G intron_variant MELA-AU 6 97433187 97433187 single base substitution C T intron_variant MELA-AU 6 97433222 97433222 single base substitution T G intron_variant MELA-AU 6 97433319 97433319 single base substitution C T intron_variant MELA-AU 6 97433337 97433337 single base substitution G C intron_variant MELA-AU 6 97433604 97433604 single base substitution C T intron_variant MELA-AU 6 97433627 97433627 single base substitution G A intron_variant MELA-AU 6 97433677 97433677 single base substitution C T intron_variant MELA-AU 6 97433698 97433698 single base substitution C T intron_variant MELA-AU 6 97433792 97433793 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 97434655 97434655 single base substitution C T intron_variant MELA-AU 6 97434676 97434676 single base substitution C T intron_variant MELA-AU 6 97434677 97434677 single base substitution C T intron_variant MELA-AU 6 97434694 97434694 single base substitution C T intron_variant MELA-AU 6 97434792 97434792 single base substitution C T intron_variant MELA-AU 6 97434836 97434836 single base substitution C T intron_variant MELA-AU 6 97434891 97434891 single base substitution A C intron_variant MELA-AU 6 97434896 97434896 single base substitution C T intron_variant MELA-AU 6 97435083 97435083 single base substitution C T intron_variant MELA-AU 6 97435200 97435200 single base substitution C T intron_variant MELA-AU 6 97435316 97435316 single base substitution A T intron_variant MELA-AU 6 97435318 97435318 single base substitution G A intron_variant MELA-AU 6 97435488 97435488 single base substitution C T intron_variant MELA-AU 6 97436149 97436149 single base substitution C T intron_variant MELA-AU 6 97436957 97436957 single base substitution G T intron_variant MELA-AU 6 97437139 97437139 single base substitution C T intron_variant MELA-AU 6 97437493 97437493 single base substitution C G intron_variant MELA-AU 6 97437808 97437808 single base substitution C T intron_variant MELA-AU 6 97437889 97437889 single base substitution C T intron_variant MELA-AU 6 97438337 97438337 single base substitution C T intron_variant MELA-AU 6 97438370 97438370 single base substitution A G intron_variant MELA-AU 6 97438386 97438386 single base substitution C T intron_variant MELA-AU 6 97438471 97438471 single base substitution C T intron_variant MELA-AU 6 97438950 97438950 single base substitution G A intron_variant MELA-AU 6 97439304 97439304 single base substitution C T intron_variant MELA-AU 6 97439426 97439426 single base substitution C T intron_variant MELA-AU 6 97439463 97439463 single base substitution G A intron_variant MELA-AU 6 97439466 97439466 single base substitution C T intron_variant MELA-AU 6 97439494 97439494 single base substitution G A intron_variant MELA-AU 6 97439640 97439640 single base substitution C T intron_variant MELA-AU 6 97439855 97439855 single base substitution G A intron_variant MELA-AU 6 97439863 97439863 single base substitution C T intron_variant MELA-AU 6 97440130 97440130 single base substitution C T intron_variant MELA-AU 6 97440340 97440340 single base substitution C T intron_variant MELA-AU 6 97440607 97440607 single base substitution G A intron_variant MELA-AU 6 97440762 97440762 single base substitution C T intron_variant MELA-AU 6 97440991 97440991 single base substitution G A intron_variant MELA-AU 6 97441024 97441024 single base substitution A T intron_variant MELA-AU 6 97441530 97441530 single base substitution T C intron_variant MELA-AU 6 97441585 97441585 single base substitution G A intron_variant MELA-AU 6 97441616 97441616 single base substitution G A intron_variant MELA-AU 6 97442067 97442067 single base substitution T C intron_variant MELA-AU 6 97442302 97442302 single base substitution C T intron_variant MELA-AU 6 97442913 97442913 single base substitution A C intron_variant MELA-AU 6 97443449 97443449 single base substitution C T intron_variant MELA-AU 6 97443516 97443516 single base substitution T C intron_variant MELA-AU 6 97443980 97443980 single base substitution G A intron_variant MELA-AU 6 97444209 97444209 single base substitution C T intron_variant MELA-AU 6 97444300 97444300 single base substitution C T intron_variant MELA-AU 6 97444312 97444312 single base substitution T C intron_variant MELA-AU 6 97444905 97444905 single base substitution G A intron_variant MELA-AU 6 97445115 97445115 single base substitution C T intron_variant MELA-AU 6 97445238 97445238 single base substitution C T intron_variant MELA-AU 6 97445559 97445559 single base substitution G A intron_variant MELA-AU 6 97445654 97445654 single base substitution A T intron_variant MELA-AU 6 97445657 97445658 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 97445722 97445722 single base substitution C T intron_variant MELA-AU 6 97446420 97446420 single base substitution T G intron_variant MELA-AU 6 97446664 97446664 single base substitution C T intron_variant MELA-AU 6 97447255 97447255 single base substitution G T intron_variant MELA-AU 6 97447432 97447432 single base substitution C T intron_variant MELA-AU 6 97447894 97447894 single base substitution G A intron_variant MELA-AU 6 97448455 97448455 single base substitution C T intron_variant MELA-AU 6 97448558 97448558 single base substitution C T intron_variant MELA-AU 6 97449252 97449252 single base substitution T A intron_variant MELA-AU 6 97449343 97449343 single base substitution T C intron_variant MELA-AU 6 97449542 97449542 single base substitution C T intron_variant MELA-AU 6 97449592 97449592 single base substitution C T intron_variant MELA-AU 6 97449683 97449683 single base substitution G A intron_variant MELA-AU 6 97449886 97449886 single base substitution A G intron_variant MELA-AU 6 97449987 97449987 single base substitution G A intron_variant MELA-AU 6 97450539 97450539 single base substitution C T intron_variant MELA-AU 6 97450932 97450932 single base substitution C T intron_variant MELA-AU 6 97451260 97451260 single base substitution C T intron_variant MELA-AU 6 97451415 97451415 single base substitution C T intron_variant MELA-AU 6 97451467 97451467 single base substitution C T intron_variant MELA-AU 6 97451508 97451508 single base substitution A G intron_variant MELA-AU 6 97451521 97451521 single base substitution C T intron_variant MELA-AU 6 97451708 97451708 single base substitution C T intron_variant MELA-AU 6 97452002 97452002 single base substitution C T intron_variant MELA-AU 6 97452028 97452028 single base substitution C T intron_variant MELA-AU 6 97452182 97452182 single base substitution G A intron_variant MELA-AU 6 97452394 97452394 single base substitution A G intron_variant MELA-AU 6 97452561 97452561 single base substitution G A intron_variant MELA-AU 6 97453068 97453068 single base substitution C T intron_variant MELA-AU 6 97453187 97453187 single base substitution G A intron_variant MELA-AU 6 97453670 97453670 single base substitution G A intron_variant MELA-AU 6 97453849 97453849 single base substitution G A intron_variant MELA-AU 6 97454118 97454118 single base substitution T A intron_variant MELA-AU 6 97454219 97454219 single base substitution C T intron_variant MELA-AU 6 97454417 97454417 single base substitution C T intron_variant MELA-AU 6 97454614 97454614 single base substitution C T intron_variant MELA-AU 6 97454745 97454745 single base substitution G A intron_variant MELA-AU 6 97454823 97454823 single base substitution G A intron_variant MELA-AU 6 97455038 97455038 single base substitution C T intron_variant MELA-AU 6 97455562 97455562 single base substitution G A intron_variant MELA-AU 6 97456061 97456061 single base substitution G A intron_variant MELA-AU 6 97456228 97456228 single base substitution A G intron_variant MELA-AU 6 97457758 97457758 single base substitution G A intron_variant MELA-AU 6 97457775 97457775 single base substitution C T intron_variant MELA-AU 6 97457806 97457807 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 97458475 97458475 single base substitution G A intron_variant MELA-AU 6 97458603 97458603 single base substitution G A intron_variant MELA-AU 6 97458827 97458827 single base substitution G A intron_variant MELA-AU 6 97459201 97459201 single base substitution T A intron_variant MELA-AU 6 97459353 97459353 single base substitution G A intron_variant MELA-AU 6 97459708 97459708 single base substitution C T intron_variant MELA-AU 6 97459798 97459798 single base substitution T C intron_variant MELA-AU 6 97459940 97459940 single base substitution A G intron_variant MELA-AU 6 97460852 97460852 single base substitution C T intron_variant MELA-AU 6 97460956 97460956 single base substitution G A intron_variant MELA-AU 6 97461097 97461097 single base substitution A G intron_variant MELA-AU 6 97461475 97461475 single base substitution C T intron_variant MELA-AU 6 97461866 97461866 single base substitution G A intron_variant MELA-AU 6 97461988 97461988 single base substitution G A intron_variant MELA-AU 6 97462096 97462096 single base substitution G A intron_variant MELA-AU 6 97462098 97462098 single base substitution G T intron_variant MELA-AU 6 97462198 97462198 single base substitution C T intron_variant MELA-AU 6 97462648 97462648 single base substitution C T intron_variant MELA-AU 6 97462822 97462822 single base substitution G A intron_variant MELA-AU 6 97463053 97463053 single base substitution C G intron_variant MELA-AU 6 97463053 97463053 single base substitution C T intron_variant MELA-AU 6 97463907 97463907 single base substitution G A intron_variant MELA-AU 6 97463962 97463962 single base substitution C T intron_variant MELA-AU 6 97463996 97463996 single base substitution G A intron_variant MELA-AU 6 97463997 97463997 single base substitution G A intron_variant MELA-AU 6 97464125 97464125 single base substitution C T intron_variant MELA-AU 6 97464463 97464463 single base substitution C T intron_variant MELA-AU 6 97464613 97464613 single base substitution C T intron_variant MELA-AU 6 97464696 97464696 single base substitution G A intron_variant MELA-AU 6 97464701 97464701 single base substitution T C intron_variant MELA-AU 6 97464722 97464722 single base substitution G A intron_variant MELA-AU 6 97464922 97464922 single base substitution C T intron_variant MELA-AU 6 97465107 97465107 single base substitution C T intron_variant MELA-AU 6 97465197 97465197 single base substitution C T intron_variant MELA-AU 6 97465322 97465322 single base substitution C T intron_variant MELA-AU 6 97465522 97465522 single base substitution G A intron_variant MELA-AU 6 97465930 97465930 single base substitution C T intron_variant MELA-AU 6 97465971 97465971 single base substitution G A intron_variant MELA-AU 6 97466206 97466206 single base substitution C T intron_variant MELA-AU 6 97466718 97466718 single base substitution G A intron_variant MELA-AU 6 97466766 97466766 single base substitution G A intron_variant MELA-AU 6 97467501 97467501 single base substitution G A intron_variant MELA-AU 6 97467526 97467526 single base substitution C T intron_variant MELA-AU 6 97467687 97467687 single base substitution C T intron_variant MELA-AU 6 97468187 97468187 single base substitution G T intron_variant MELA-AU 6 97468254 97468254 single base substitution A T intron_variant MELA-AU 6 97468457 97468457 single base substitution C T intron_variant MELA-AU 6 97468858 97468858 single base substitution G A intron_variant MELA-AU 6 97469345 97469345 single base substitution G A intron_variant MELA-AU 6 97469763 97469763 single base substitution C T intron_variant MELA-AU 6 97469811 97469811 single base substitution C T intron_variant MELA-AU 6 97469845 97469845 single base substitution G A intron_variant MELA-AU 6 97469937 97469937 single base substitution C T intron_variant MELA-AU 6 97470430 97470431 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 97470436 97470436 single base substitution C T intron_variant MELA-AU 6 97470456 97470456 single base substitution C T intron_variant MELA-AU 6 97470587 97470587 single base substitution C T intron_variant MELA-AU 6 97470603 97470603 single base substitution C T intron_variant MELA-AU 6 97471162 97471162 single base substitution C T intron_variant MELA-AU 6 97471267 97471267 single base substitution G A intron_variant MELA-AU 6 97471449 97471449 single base substitution C T intron_variant MELA-AU 6 97471461 97471461 single base substitution G A intron_variant MELA-AU 6 97471607 97471607 single base substitution G A intron_variant MELA-AU 6 97471702 97471702 single base substitution T A intron_variant MELA-AU 6 97471815 97471815 single base substitution G C intron_variant MELA-AU 6 97471982 97471982 single base substitution G A intron_variant MELA-AU 6 97473109 97473109 single base substitution C T intron_variant MELA-AU 6 97473266 97473266 single base substitution C T intron_variant MELA-AU 6 97473346 97473346 single base substitution A G intron_variant MELA-AU 6 97473522 97473522 single base substitution C T intron_variant MELA-AU 6 97473924 97473924 single base substitution G A intron_variant MELA-AU 6 97474536 97474536 single base substitution G A intron_variant MELA-AU 6 97474698 97474698 single base substitution A T intron_variant MELA-AU 6 97474763 97474763 single base substitution G A intron_variant MELA-AU 6 97475178 97475178 single base substitution C T intron_variant MELA-AU 6 97475450 97475450 single base substitution G A intron_variant MELA-AU 6 97475457 97475457 single base substitution G A intron_variant MELA-AU 6 97475800 97475800 single base substitution G A intron_variant MELA-AU 6 97476421 97476421 single base substitution C T intron_variant MELA-AU 6 97477460 97477460 single base substitution C T intron_variant MELA-AU 6 97477514 97477514 single base substitution A T intron_variant MELA-AU 6 97477588 97477588 single base substitution G A intron_variant MELA-AU 6 97477624 97477624 single base substitution C T intron_variant MELA-AU 6 97478305 97478305 single base substitution C T intron_variant MELA-AU 6 97478410 97478410 single base substitution G A intron_variant MELA-AU 6 97478739 97478739 single base substitution G A intron_variant MELA-AU 6 97479156 97479156 single base substitution C T intron_variant MELA-AU 6 97479310 97479310 single base substitution C T intron_variant MELA-AU 6 97479452 97479452 single base substitution G A intron_variant MELA-AU 6 97479518 97479518 single base substitution T C intron_variant MELA-AU 6 97479792 97479793 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 97479803 97479803 single base substitution G A intron_variant MELA-AU 6 97480161 97480161 single base substitution C T intron_variant MELA-AU 6 97480232 97480232 single base substitution C T intron_variant MELA-AU 6 97480292 97480292 single base substitution C T intron_variant MELA-AU 6 97480835 97480835 single base substitution C T intron_variant MELA-AU 6 97481207 97481207 single base substitution C T intron_variant MELA-AU 6 97481289 97481289 single base substitution T C intron_variant MELA-AU 6 97481300 97481300 single base substitution C T intron_variant MELA-AU 6 97481325 97481325 single base substitution C T intron_variant MELA-AU 6 97481397 97481397 single base substitution C T intron_variant MELA-AU 6 97481639 97481639 single base substitution C T intron_variant MELA-AU 6 97482158 97482158 single base substitution C T intron_variant MELA-AU 6 97482307 97482307 single base substitution G A intron_variant MELA-AU 6 97482360 97482360 single base substitution G A intron_variant MELA-AU 6 97482467 97482467 single base substitution C T intron_variant MELA-AU 6 97482550 97482550 single base substitution T A intron_variant MELA-AU 6 97482576 97482576 single base substitution C T intron_variant MELA-AU 6 97482708 97482708 single base substitution T C intron_variant MELA-AU 6 97482828 97482828 single base substitution C T intron_variant MELA-AU 6 97483009 97483009 single base substitution C T intron_variant MELA-AU 6 97483433 97483433 single base substitution G A intron_variant MELA-AU 6 97483690 97483690 single base substitution C T intron_variant MELA-AU 6 97483710 97483710 single base substitution G C intron_variant MELA-AU 6 97483746 97483746 single base substitution C T intron_variant MELA-AU 6 97483803 97483803 single base substitution C T intron_variant MELA-AU 6 97483875 97483875 single base substitution C T intron_variant MELA-AU 6 97483927 97483927 single base substitution G A intron_variant MELA-AU 6 97484021 97484021 single base substitution C T intron_variant MELA-AU 6 97484052 97484052 single base substitution T C intron_variant MELA-AU 6 97484801 97484801 single base substitution G A intron_variant MELA-AU 6 97484804 97484804 single base substitution G A intron_variant MELA-AU 6 97485187 97485187 single base substitution G A intron_variant MELA-AU 6 97485301 97485301 single base substitution C T intron_variant MELA-AU 6 97486253 97486253 single base substitution G A intron_variant MELA-AU 6 97486305 97486305 single base substitution G T intron_variant MELA-AU 6 97487283 97487283 single base substitution G A intron_variant MELA-AU 6 97487395 97487395 single base substitution A T intron_variant MELA-AU 6 97487482 97487482 single base substitution G A intron_variant MELA-AU 6 97487744 97487744 single base substitution C T intron_variant MELA-AU 6 97487852 97487852 single base substitution A C intron_variant MELA-AU 6 97488197 97488197 single base substitution C T intron_variant MELA-AU 6 97488198 97488198 single base substitution C T intron_variant MELA-AU 6 97488556 97488556 single base substitution C T intron_variant MELA-AU 6 97488655 97488655 single base substitution C T intron_variant MELA-AU 6 97488657 97488657 single base substitution C T intron_variant MELA-AU 6 97489238 97489238 single base substitution G A intron_variant MELA-AU 6 97489250 97489250 single base substitution A T intron_variant MELA-AU 6 97489532 97489532 single base substitution G A intron_variant MELA-AU 6 97489694 97489694 single base substitution T C intron_variant MELA-AU 6 97489849 97489849 single base substitution C T intron_variant MELA-AU 6 97489998 97489998 single base substitution G A intron_variant MELA-AU 6 97490045 97490045 single base substitution C G intron_variant MELA-AU 6 97490332 97490332 single base substitution G A intron_variant MELA-AU 6 97490742 97490742 single base substitution C T intron_variant MELA-AU 6 97490841 97490841 single base substitution G A intron_variant MELA-AU 6 97490883 97490883 single base substitution C T intron_variant MELA-AU 6 97490895 97490895 single base substitution C T intron_variant MELA-AU 6 97491246 97491246 single base substitution C T intron_variant MELA-AU 6 97491634 97491634 single base substitution G A intron_variant MELA-AU 6 97491846 97491846 single base substitution C T intron_variant MELA-AU 6 97492342 97492342 single base substitution C T intron_variant MELA-AU 6 97492511 97492511 single base substitution G A intron_variant MELA-AU 6 97492576 97492576 single base substitution G A intron_variant MELA-AU 6 97492774 97492774 single base substitution C T intron_variant MELA-AU 6 97492841 97492841 single base substitution C T intron_variant MELA-AU 6 97493111 97493111 single base substitution G A intron_variant MELA-AU 6 97493566 97493566 single base substitution C T intron_variant MELA-AU 6 97494234 97494234 single base substitution G A intron_variant MELA-AU 6 97494623 97494623 single base substitution C T intron_variant MELA-AU 6 97495024 97495024 single base substitution G A intron_variant MELA-AU 6 97495050 97495050 single base substitution C T intron_variant MELA-AU 6 97495074 97495074 single base substitution G A intron_variant MELA-AU 6 97496158 97496158 single base substitution G A intron_variant MELA-AU 6 97496939 97496940 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 97497054 97497054 single base substitution A G intron_variant MELA-AU 6 97499629 97499629 single base substitution T A intron_variant MELA-AU 6 97499666 97499666 single base substitution C T intron_variant MELA-AU 6 97500811 97500811 single base substitution C T intron_variant MELA-AU 6 97501401 97501401 single base substitution T A intron_variant MELA-AU 6 97501414 97501414 single base substitution A T intron_variant MELA-AU 6 97501595 97501595 single base substitution G T intron_variant MELA-AU 6 97501887 97501887 single base substitution T C intron_variant MELA-AU 6 97501892 97501892 single base substitution C T intron_variant MELA-AU 6 97502056 97502056 single base substitution G A intron_variant MELA-AU 6 97502209 97502209 single base substitution C T intron_variant MELA-AU 6 97502229 97502229 single base substitution C T intron_variant MELA-AU 6 97502265 97502265 single base substitution G A intron_variant MELA-AU 6 97502269 97502269 single base substitution T C intron_variant MELA-AU 6 97502375 97502375 single base substitution A G intron_variant MELA-AU 6 97502707 97502707 single base substitution C T intron_variant MELA-AU 6 97502946 97502946 single base substitution C T intron_variant MELA-AU 6 97502959 97502959 single base substitution C T intron_variant MELA-AU 6 97503701 97503701 single base substitution C T intron_variant MELA-AU 6 97503936 97503936 single base substitution C T intron_variant MELA-AU 6 97504012 97504012 single base substitution C T intron_variant MELA-AU 6 97504066 97504066 single base substitution C T intron_variant MELA-AU 6 97504104 97504104 single base substitution C T intron_variant MELA-AU 6 97504216 97504216 single base substitution C T intron_variant MELA-AU 6 97504299 97504299 single base substitution C T intron_variant MELA-AU 6 97504395 97504395 single base substitution C T intron_variant MELA-AU 6 97504457 97504458 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 97504460 97504460 single base substitution T C intron_variant MELA-AU 6 97504694 97504694 single base substitution C T intron_variant MELA-AU 6 97504889 97504889 single base substitution C T intron_variant MELA-AU 6 97504937 97504937 single base substitution G A intron_variant MELA-AU 6 97505544 97505544 single base substitution A T intron_variant MELA-AU 6 97505869 97505869 single base substitution G T intron_variant MELA-AU 6 97506447 97506447 single base substitution C T intron_variant MELA-AU 6 97506859 97506859 single base substitution C T intron_variant MELA-AU 6 97506901 97506901 single base substitution T C intron_variant MELA-AU 6 97507082 97507082 single base substitution T G intron_variant MELA-AU 6 97507367 97507367 single base substitution C T intron_variant MELA-AU 6 97507421 97507421 single base substitution C T intron_variant MELA-AU 6 97507818 97507818 single base substitution G A intron_variant MELA-AU 6 97507818 97507818 single base substitution G A upstream_gene_variant MELA-AU 6 97507859 97507859 single base substitution C T intron_variant MELA-AU 6 97507859 97507859 single base substitution C T upstream_gene_variant MELA-AU 6 97508024 97508024 single base substitution C T intron_variant MELA-AU 6 97508024 97508024 single base substitution C T upstream_gene_variant MELA-AU 6 97508075 97508075 single base substitution T C intron_variant MELA-AU 6 97508075 97508075 single base substitution T C upstream_gene_variant MELA-AU 6 97508413 97508413 single base substitution C T intron_variant MELA-AU 6 97508413 97508413 single base substitution C T upstream_gene_variant MELA-AU 6 97508415 97508416 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 97508415 97508416 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 6 97508434 97508434 single base substitution C T intron_variant MELA-AU 6 97508434 97508434 single base substitution C T upstream_gene_variant MELA-AU 6 97508515 97508516 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 6 97508515 97508516 multiple base substitution (>=2bp and <=200bp) GG AT upstream_gene_variant MELA-AU 6 97508572 97508572 single base substitution G A intron_variant MELA-AU 6 97508572 97508572 single base substitution G A upstream_gene_variant MELA-AU 6 97508984 97508984 single base substitution C G intron_variant MELA-AU 6 97508984 97508984 single base substitution C G upstream_gene_variant MELA-AU 6 97509491 97509491 single base substitution T A intron_variant MELA-AU 6 97509491 97509491 single base substitution T A upstream_gene_variant MELA-AU 6 97509678 97509678 single base substitution C T intron_variant MELA-AU 6 97509678 97509678 single base substitution C T upstream_gene_variant MELA-AU 6 97510168 97510168 single base substitution C T intron_variant MELA-AU 6 97510168 97510168 single base substitution C T upstream_gene_variant MELA-AU 6 97510297 97510297 single base substitution C T intron_variant MELA-AU 6 97510297 97510297 single base substitution C T upstream_gene_variant MELA-AU 6 97511262 97511262 single base substitution G A intron_variant MELA-AU 6 97511262 97511262 single base substitution G A upstream_gene_variant MELA-AU 6 97511972 97511972 single base substitution G A intron_variant MELA-AU 6 97511972 97511972 single base substitution G A upstream_gene_variant MELA-AU 6 97512425 97512425 single base substitution T C intron_variant MELA-AU 6 97512425 97512425 single base substitution T C upstream_gene_variant MELA-AU 6 97512761 97512761 single base substitution G A intron_variant MELA-AU 6 97512797 97512797 single base substitution G A intron_variant MELA-AU 6 97512865 97512865 single base substitution G A intron_variant MELA-AU 6 97512883 97512883 single base substitution C T intron_variant MELA-AU 6 97512898 97512898 single base substitution G A intron_variant MELA-AU 6 97513144 97513144 single base substitution G A intron_variant MELA-AU 6 97513190 97513190 single base substitution C T intron_variant MELA-AU 6 97513261 97513261 single base substitution A G intron_variant MELA-AU 6 97513283 97513283 single base substitution G A intron_variant MELA-AU 6 97513422 97513422 single base substitution A C intron_variant MELA-AU 6 97513512 97513512 single base substitution C T intron_variant MELA-AU 6 97513881 97513881 single base substitution C T intron_variant MELA-AU 6 97513882 97513882 single base substitution C T intron_variant MELA-AU 6 97513894 97513894 single base substitution C T intron_variant MELA-AU 6 97513971 97513971 single base substitution G A intron_variant MELA-AU 6 97514228 97514228 single base substitution C T intron_variant MELA-AU 6 97514422 97514422 single base substitution C T intron_variant MELA-AU 6 97514621 97514622 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 6 97514780 97514780 single base substitution C T intron_variant MELA-AU 6 97514937 97514937 single base substitution C A intron_variant MELA-AU 6 97515112 97515112 single base substitution G A intron_variant MELA-AU 6 97515279 97515279 single base substitution G A intron_variant MELA-AU 6 97515473 97515473 single base substitution G A intron_variant MELA-AU 6 97515629 97515629 single base substitution C T intron_variant MELA-AU 6 97515670 97515670 single base substitution C T intron_variant MELA-AU 6 97515766 97515766 single base substitution C T intron_variant MELA-AU 6 97515773 97515773 single base substitution G A intron_variant MELA-AU 6 97516290 97516290 single base substitution G A intron_variant MELA-AU 6 97516305 97516305 single base substitution C T intron_variant MELA-AU 6 97516582 97516582 single base substitution T A intron_variant MELA-AU 6 97516743 97516743 single base substitution T C intron_variant MELA-AU 6 97516888 97516888 single base substitution G T intron_variant MELA-AU 6 97516962 97516962 single base substitution C T intron_variant MELA-AU 6 97517558 97517558 single base substitution G A intron_variant MELA-AU 6 97517817 97517817 single base substitution T A intron_variant MELA-AU 6 97517928 97517928 single base substitution C T intron_variant MELA-AU 6 97518481 97518481 single base substitution C T intron_variant MELA-AU 6 97518840 97518840 single base substitution C T intron_variant MELA-AU 6 97519171 97519171 single base substitution C T intron_variant MELA-AU 6 97519293 97519293 single base substitution C T intron_variant MELA-AU 6 97519814 97519814 single base substitution C T intron_variant MELA-AU 6 97520459 97520459 single base substitution T A intron_variant MELA-AU 6 97520536 97520536 single base substitution G A intron_variant MELA-AU 6 97520882 97520882 single base substitution C T intron_variant MELA-AU 6 97521369 97521369 single base substitution C T intron_variant MELA-AU 6 97521632 97521632 single base substitution C T intron_variant MELA-AU 6 97521667 97521667 single base substitution C T intron_variant MELA-AU 6 97521723 97521723 single base substitution G C intron_variant MELA-AU 6 97521802 97521802 single base substitution C T intron_variant MELA-AU 6 97521894 97521895 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 97522357 97522357 single base substitution T A intron_variant MELA-AU 6 97522884 97522884 single base substitution G A intron_variant MELA-AU 6 97522928 97522928 single base substitution G A intron_variant MELA-AU 6 97523513 97523513 single base substitution G A intron_variant MELA-AU 6 97523569 97523569 single base substitution G A intron_variant MELA-AU 6 97523874 97523874 single base substitution A C intron_variant MELA-AU 6 97524291 97524291 single base substitution C T intron_variant MELA-AU 6 97524323 97524323 single base substitution T C intron_variant MELA-AU 6 97525253 97525253 single base substitution C T intron_variant MELA-AU 6 97525502 97525502 single base substitution C T intron_variant MELA-AU 6 97525642 97525642 single base substitution G A intron_variant MELA-AU 6 97525682 97525682 single base substitution C T intron_variant MELA-AU 6 97525906 97525906 single base substitution G A intron_variant MELA-AU 6 97526094 97526094 single base substitution C T intron_variant MELA-AU 6 97526671 97526671 single base substitution C T intron_variant MELA-AU 6 97527182 97527182 single base substitution C T intron_variant MELA-AU 6 97527217 97527217 single base substitution G A intron_variant MELA-AU 6 97527624 97527624 single base substitution G A intron_variant MELA-AU 6 97527651 97527651 single base substitution C T intron_variant MELA-AU 6 97527852 97527852 single base substitution G A intron_variant MELA-AU 6 97527955 97527955 single base substitution C T intron_variant MELA-AU 6 97528052 97528052 single base substitution C T intron_variant MELA-AU 6 97528153 97528153 single base substitution G A intron_variant MELA-AU 6 97528943 97528943 single base substitution C T intron_variant MELA-AU 6 97529048 97529048 single base substitution G A intron_variant MELA-AU 6 97529204 97529204 single base substitution G A intron_variant MELA-AU 6 97529814 97529814 single base substitution G A intron_variant MELA-AU 6 97530023 97530023 single base substitution G A intron_variant MELA-AU 6 97530294 97530294 single base substitution C T intron_variant MELA-AU 6 97530335 97530335 single base substitution G A intron_variant MELA-AU 6 97530358 97530358 single base substitution G A intron_variant MELA-AU 6 97530435 97530435 single base substitution G A intron_variant MELA-AU 6 97530469 97530469 single base substitution G A intron_variant MELA-AU 6 97530543 97530543 single base substitution G A intron_variant MELA-AU 6 97530717 97530717 single base substitution C T intron_variant MELA-AU 6 97530724 97530724 single base substitution C T intron_variant MELA-AU 6 97531110 97531110 single base substitution C T intron_variant MELA-AU 6 97531738 97531738 single base substitution G A intron_variant MELA-AU 6 97531921 97531921 single base substitution G A intron_variant MELA-AU 6 97532056 97532057 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 97532394 97532394 single base substitution C T intron_variant MELA-AU 6 97532452 97532452 single base substitution C T intron_variant MELA-AU 6 97532862 97532862 single base substitution C T intron_variant MELA-AU 6 97533002 97533002 single base substitution G A intron_variant MELA-AU 6 97533002 97533002 single base substitution G A missense_variant E102K 304G>A MELA-AU 6 97533002 97533002 single base substitution G A missense_variant E138K 412G>A MELA-AU 6 97533002 97533002 single base substitution G A missense_variant E34K 100G>A MELA-AU 6 97533002 97533002 single base substitution G A missense_variant E69K 205G>A MELA-AU 6 97533349 97533349 single base substitution C T intron_variant MELA-AU 6 97533511 97533511 single base substitution C T intron_variant MELA-AU 6 97533564 97533564 single base substitution G T intron_variant MELA-AU 6 97533896 97533896 single base substitution C T intron_variant MELA-AU 6 97533906 97533906 single base substitution C T intron_variant MELA-AU 6 97534639 97534639 single base substitution C T intron_variant MELA-AU 6 97534731 97534731 single base substitution C T intron_variant MELA-AU 6 97535466 97535466 single base substitution G A intron_variant MELA-AU 6 97535673 97535673 single base substitution C T intron_variant MELA-AU 6 97535876 97535876 single base substitution C T intron_variant MELA-AU 6 97535996 97535996 single base substitution C T intron_variant MELA-AU 6 97536325 97536325 single base substitution C T intron_variant MELA-AU 6 97536423 97536423 single base substitution G A intron_variant MELA-AU 6 97536771 97536771 single base substitution C T intron_variant MELA-AU 6 97537116 97537116 single base substitution G A intron_variant MELA-AU 6 97537173 97537173 single base substitution A T intron_variant MELA-AU 6 97537283 97537283 single base substitution G A intron_variant MELA-AU 6 97537345 97537345 single base substitution T C intron_variant MELA-AU 6 97537365 97537365 single base substitution C T intron_variant MELA-AU 6 97538010 97538010 single base substitution T C intron_variant MELA-AU 6 97538571 97538571 single base substitution G A intron_variant MELA-AU 6 97538641 97538641 single base substitution G A intron_variant MELA-AU 6 97538804 97538804 single base substitution A G intron_variant MELA-AU 6 97538879 97538879 single base substitution C T intron_variant MELA-AU 6 97538938 97538938 single base substitution G A intron_variant MELA-AU 6 97539012 97539012 single base substitution G A intron_variant MELA-AU 6 97539108 97539108 single base substitution G A intron_variant MELA-AU 6 97539368 97539368 single base substitution G A intron_variant MELA-AU 6 97539754 97539754 single base substitution G A intron_variant MELA-AU 6 97539929 97539929 single base substitution G A intron_variant MELA-AU 6 97540100 97540100 single base substitution C T intron_variant MELA-AU 6 97540476 97540476 single base substitution G A intron_variant MELA-AU 6 97540699 97540700 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 97541151 97541151 single base substitution C T intron_variant MELA-AU 6 97541536 97541536 single base substitution C T intron_variant MELA-AU 6 97541609 97541609 single base substitution G A intron_variant MELA-AU 6 97541709 97541710 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 97541828 97541828 single base substitution C T intron_variant MELA-AU 6 97541983 97541983 single base substitution G A intron_variant MELA-AU 6 97542202 97542202 single base substitution G A intron_variant MELA-AU 6 97542248 97542248 single base substitution C T intron_variant MELA-AU 6 97542550 97542550 single base substitution G T intron_variant MELA-AU 6 97543755 97543755 single base substitution A G intron_variant MELA-AU 6 97543941 97543941 single base substitution C T intron_variant MELA-AU 6 97543959 97543960 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 97544445 97544445 single base substitution G T intron_variant MELA-AU 6 97545680 97545680 single base substitution G C intron_variant MELA-AU 6 97545783 97545783 single base substitution G A intron_variant MELA-AU 6 97547434 97547434 single base substitution C T intron_variant MELA-AU 6 97547688 97547688 single base substitution C T intron_variant MELA-AU 6 97547907 97547907 single base substitution G A intron_variant MELA-AU 6 97547987 97547987 single base substitution C T intron_variant MELA-AU 6 97548034 97548034 single base substitution A T intron_variant MELA-AU 6 97548105 97548105 single base substitution C T intron_variant MELA-AU 6 97548268 97548268 single base substitution C T intron_variant MELA-AU 6 97548317 97548317 single base substitution C T intron_variant MELA-AU 6 97548773 97548773 single base substitution G A intron_variant MELA-AU 6 97549273 97549273 single base substitution A G intron_variant MELA-AU 6 97549409 97549409 single base substitution C T intron_variant MELA-AU 6 97549481 97549481 single base substitution C T intron_variant MELA-AU 6 97550238 97550238 single base substitution C T intron_variant MELA-AU 6 97550302 97550302 single base substitution C T intron_variant MELA-AU 6 97550354 97550354 single base substitution C T intron_variant MELA-AU 6 97550857 97550857 single base substitution C T intron_variant MELA-AU 6 97551009 97551009 single base substitution C T intron_variant MELA-AU 6 97551394 97551394 single base substitution C T intron_variant MELA-AU 6 97552017 97552017 single base substitution C T intron_variant MELA-AU 6 97552050 97552050 single base substitution C T intron_variant MELA-AU 6 97552241 97552241 single base substitution G A intron_variant MELA-AU 6 97552449 97552449 single base substitution C T intron_variant MELA-AU 6 97552487 97552487 single base substitution T C intron_variant MELA-AU 6 97552700 97552700 single base substitution C A intron_variant MELA-AU 6 97552729 97552729 single base substitution G A intron_variant MELA-AU 6 97552760 97552760 single base substitution C T intron_variant MELA-AU 6 97553453 97553453 single base substitution C A intron_variant MELA-AU 6 97553454 97553454 single base substitution C T intron_variant MELA-AU 6 97553795 97553795 single base substitution G A intron_variant MELA-AU 6 97554104 97554104 single base substitution C T intron_variant MELA-AU 6 97554367 97554367 single base substitution C T intron_variant MELA-AU 6 97554547 97554547 single base substitution G A intron_variant MELA-AU 6 97554664 97554664 single base substitution G A intron_variant MELA-AU 6 97554665 97554665 single base substitution G A intron_variant MELA-AU 6 97554783 97554783 single base substitution G A intron_variant MELA-AU 6 97554973 97554973 single base substitution C T intron_variant MELA-AU 6 97555148 97555148 single base substitution G A intron_variant MELA-AU 6 97556008 97556008 single base substitution C T intron_variant MELA-AU 6 97556017 97556017 single base substitution C T intron_variant MELA-AU 6 97556047 97556047 single base substitution A C intron_variant MELA-AU 6 97556715 97556715 single base substitution C T intron_variant MELA-AU 6 97557471 97557471 single base substitution C T intron_variant MELA-AU 6 97557543 97557543 single base substitution G A intron_variant MELA-AU 6 97558458 97558459 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 97558523 97558523 single base substitution C T intron_variant MELA-AU 6 97558642 97558642 single base substitution G A intron_variant MELA-AU 6 97558730 97558730 single base substitution G A intron_variant MELA-AU 6 97558884 97558884 single base substitution G A intron_variant MELA-AU 6 97558992 97558992 single base substitution T C intron_variant MELA-AU 6 97559057 97559057 single base substitution G A intron_variant MELA-AU 6 97559120 97559120 single base substitution C T intron_variant MELA-AU 6 97559159 97559159 single base substitution G A intron_variant MELA-AU 6 97559254 97559254 single base substitution G A intron_variant MELA-AU 6 97559370 97559370 single base substitution G A intron_variant MELA-AU 6 97559445 97559445 single base substitution C T intron_variant MELA-AU 6 97559495 97559495 single base substitution G A intron_variant MELA-AU 6 97559516 97559516 single base substitution T A intron_variant MELA-AU 6 97559695 97559695 single base substitution G A intron_variant MELA-AU 6 97559699 97559700 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 97559744 97559744 single base substitution C T intron_variant MELA-AU 6 97560046 97560046 single base substitution G A intron_variant MELA-AU 6 97560065 97560065 single base substitution C T intron_variant MELA-AU 6 97560184 97560184 single base substitution C T intron_variant MELA-AU 6 97560457 97560457 single base substitution G A intron_variant MELA-AU 6 97560590 97560590 single base substitution G A intron_variant MELA-AU 6 97560684 97560684 single base substitution T C intron_variant MELA-AU 6 97560846 97560846 single base substitution T C intron_variant MELA-AU 6 97561101 97561101 single base substitution G A intron_variant MELA-AU 6 97562022 97562022 single base substitution C T 3_prime_UTR_variant MELA-AU 6 97562022 97562022 single base substitution C T intron_variant MELA-AU 6 97562022 97562022 single base substitution C T missense_variant P262S 784C>T MELA-AU 6 97562022 97562022 single base substitution C T missense_variant P295S 883C>T MELA-AU 6 97562022 97562022 single base substitution C T missense_variant P331S 991C>T MELA-AU 6 97562150 97562150 single base substitution C T downstream_gene_variant MELA-AU 6 97562150 97562150 single base substitution C T intron_variant MELA-AU 6 97562150 97562150 single base substitution C T synonymous_variant P304P 912C>T MELA-AU 6 97562150 97562150 single base substitution C T synonymous_variant P337P 1011C>T MELA-AU 6 97562150 97562150 single base substitution C T synonymous_variant P373P 1119C>T MELA-AU 6 97562253 97562253 single base substitution G A downstream_gene_variant MELA-AU 6 97562253 97562253 single base substitution G A intron_variant MELA-AU 6 97562253 97562253 single base substitution G A missense_variant E339K 1015G>A MELA-AU 6 97562253 97562253 single base substitution G A missense_variant E372K 1114G>A MELA-AU 6 97562253 97562253 single base substitution G A missense_variant E408K 1222G>A MELA-AU 6 97562260 97562260 single base substitution G A downstream_gene_variant MELA-AU 6 97562260 97562260 single base substitution G A intron_variant MELA-AU 6 97562260 97562260 single base substitution G A missense_variant R341H 1022G>A MELA-AU 6 97562260 97562260 single base substitution G A missense_variant R374H 1121G>A MELA-AU 6 97562260 97562260 single base substitution G A missense_variant R410H 1229G>A MELA-AU 6 97562597 97562597 single base substitution G A downstream_gene_variant MELA-AU 6 97562597 97562597 single base substitution G A intron_variant MELA-AU 6 97562599 97562599 single base substitution A G downstream_gene_variant MELA-AU 6 97562599 97562599 single base substitution A G intron_variant MELA-AU 6 97562629 97562629 single base substitution C T downstream_gene_variant MELA-AU 6 97562629 97562629 single base substitution C T intron_variant MELA-AU 6 97562652 97562652 single base substitution C T downstream_gene_variant MELA-AU 6 97562652 97562652 single base substitution C T intron_variant MELA-AU 6 97562811 97562811 single base substitution C T downstream_gene_variant MELA-AU 6 97562811 97562811 single base substitution C T intron_variant MELA-AU 6 97562828 97562828 single base substitution T A downstream_gene_variant MELA-AU 6 97562828 97562828 single base substitution T A intron_variant MELA-AU 6 97563271 97563271 single base substitution C G downstream_gene_variant MELA-AU 6 97563271 97563271 single base substitution C G intron_variant MELA-AU 6 97563320 97563320 single base substitution C T downstream_gene_variant MELA-AU 6 97563320 97563320 single base substitution C T intron_variant MELA-AU 6 97563370 97563370 single base substitution G A downstream_gene_variant MELA-AU 6 97563370 97563370 single base substitution G A intron_variant MELA-AU 6 97563584 97563584 single base substitution T C downstream_gene_variant MELA-AU 6 97563584 97563584 single base substitution T C intron_variant MELA-AU 6 97563715 97563715 single base substitution G A downstream_gene_variant MELA-AU 6 97563715 97563715 single base substitution G A intron_variant MELA-AU 6 97563845 97563845 single base substitution C T downstream_gene_variant MELA-AU 6 97563845 97563845 single base substitution C T intron_variant MELA-AU 6 97564361 97564361 single base substitution C T downstream_gene_variant MELA-AU 6 97564361 97564361 single base substitution C T intron_variant MELA-AU 6 97564658 97564658 single base substitution C T downstream_gene_variant MELA-AU 6 97564658 97564658 single base substitution C T intron_variant MELA-AU 6 97564737 97564737 single base substitution G A downstream_gene_variant MELA-AU 6 97564737 97564737 single base substitution G A intron_variant MELA-AU 6 97565135 97565135 single base substitution T A downstream_gene_variant MELA-AU 6 97565135 97565135 single base substitution T A intron_variant MELA-AU 6 97565380 97565380 single base substitution G A downstream_gene_variant MELA-AU 6 97565380 97565380 single base substitution G A intron_variant MELA-AU 6 97565497 97565497 single base substitution C T downstream_gene_variant MELA-AU 6 97565497 97565497 single base substitution C T intron_variant MELA-AU 6 97565592 97565592 single base substitution C T downstream_gene_variant MELA-AU 6 97565592 97565592 single base substitution C T intron_variant MELA-AU 6 97565679 97565679 single base substitution G A downstream_gene_variant MELA-AU 6 97565679 97565679 single base substitution G A intron_variant MELA-AU 6 97565700 97565700 single base substitution C T downstream_gene_variant MELA-AU 6 97565700 97565700 single base substitution C T intron_variant MELA-AU 6 97565880 97565880 single base substitution T C downstream_gene_variant MELA-AU 6 97565880 97565880 single base substitution T C intron_variant MELA-AU 6 97565914 97565914 single base substitution A T downstream_gene_variant MELA-AU 6 97565914 97565914 single base substitution A T intron_variant MELA-AU 6 97565920 97565920 single base substitution C T downstream_gene_variant MELA-AU 6 97565920 97565920 single base substitution C T intron_variant MELA-AU 6 97566160 97566160 single base substitution C T downstream_gene_variant MELA-AU 6 97566160 97566160 single base substitution C T intron_variant MELA-AU 6 97566199 97566199 single base substitution G A downstream_gene_variant MELA-AU 6 97566199 97566199 single base substitution G A intron_variant MELA-AU 6 97566777 97566777 single base substitution A G downstream_gene_variant MELA-AU 6 97566777 97566777 single base substitution A G intron_variant MELA-AU 6 97567017 97567017 single base substitution C T downstream_gene_variant MELA-AU 6 97567017 97567017 single base substitution C T intron_variant MELA-AU 6 97567125 97567125 single base substitution C T intron_variant MELA-AU 6 97567146 97567146 single base substitution C T intron_variant MELA-AU 6 97567259 97567259 single base substitution G A intron_variant MELA-AU 6 97567464 97567464 single base substitution G A intron_variant MELA-AU 6 97567576 97567576 single base substitution C T intron_variant MELA-AU 6 97567591 97567591 single base substitution C T intron_variant MELA-AU 6 97567647 97567647 single base substitution G A intron_variant MELA-AU 6 97567698 97567698 single base substitution C T intron_variant MELA-AU 6 97567901 97567901 single base substitution G A intron_variant MELA-AU 6 97568144 97568145 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 97568145 97568145 single base substitution G A intron_variant MELA-AU 6 97568370 97568370 single base substitution C T intron_variant MELA-AU 6 97568378 97568378 single base substitution G A intron_variant MELA-AU 6 97568532 97568532 single base substitution G A intron_variant MELA-AU 6 97568668 97568668 single base substitution C T intron_variant MELA-AU 6 97568779 97568779 single base substitution C T intron_variant MELA-AU 6 97568936 97568936 single base substitution A G intron_variant MELA-AU 6 97569163 97569163 single base substitution T G intron_variant MELA-AU 6 97569302 97569302 single base substitution T C intron_variant MELA-AU 6 97569348 97569348 single base substitution T A intron_variant MELA-AU 6 97569354 97569354 single base substitution G A intron_variant MELA-AU 6 97569408 97569408 single base substitution G A intron_variant MELA-AU 6 97569440 97569440 single base substitution G A intron_variant MELA-AU 6 97569536 97569536 single base substitution C T intron_variant MELA-AU 6 97569566 97569566 single base substitution G A intron_variant MELA-AU 6 97569730 97569730 single base substitution G A intron_variant MELA-AU 6 97569906 97569906 single base substitution G A intron_variant MELA-AU 6 97570618 97570618 single base substitution G A intron_variant MELA-AU 6 97570787 97570787 single base substitution C T intron_variant MELA-AU 6 97571146 97571146 single base substitution C T intron_variant MELA-AU 6 97571271 97571271 single base substitution C T intron_variant MELA-AU 6 97571735 97571735 single base substitution G A intron_variant MELA-AU 6 97571772 97571772 single base substitution G A intron_variant MELA-AU 6 97572410 97572410 single base substitution A T intron_variant MELA-AU 6 97572492 97572492 single base substitution T C intron_variant MELA-AU 6 97573126 97573126 single base substitution G A intron_variant MELA-AU 6 97573323 97573323 single base substitution T C intron_variant MELA-AU 6 97573453 97573453 single base substitution C T intron_variant MELA-AU 6 97573945 97573945 single base substitution T A intron_variant MELA-AU 6 97573997 97573997 single base substitution G A intron_variant MELA-AU 6 97574606 97574606 single base substitution A G intron_variant MELA-AU 6 97574726 97574726 single base substitution T G intron_variant MELA-AU 6 97574727 97574727 single base substitution T A intron_variant MELA-AU 6 97574771 97574772 multiple base substitution (>=2bp and <=200bp) AT TC intron_variant MELA-AU 6 97575369 97575369 single base substitution T C intron_variant MELA-AU 6 97575464 97575464 single base substitution G A intron_variant MELA-AU 6 97575480 97575480 single base substitution A G intron_variant MELA-AU 6 97575644 97575644 single base substitution G A intron_variant MELA-AU 6 97575939 97575939 single base substitution G A intron_variant MELA-AU 6 97576565 97576565 single base substitution A G intron_variant MELA-AU 6 97576628 97576628 single base substitution G A intron_variant MELA-AU 6 97576817 97576817 single base substitution A T intron_variant MELA-AU 6 97577101 97577101 single base substitution T A intron_variant MELA-AU 6 97578328 97578328 single base substitution G A intron_variant MELA-AU 6 97578406 97578406 single base substitution G A intron_variant MELA-AU 6 97578426 97578426 single base substitution G A intron_variant MELA-AU 6 97578887 97578887 single base substitution C T downstream_gene_variant MELA-AU 6 97578887 97578887 single base substitution C T intron_variant MELA-AU 6 97579713 97579713 single base substitution G A downstream_gene_variant MELA-AU 6 97579713 97579713 single base substitution G A intron_variant MELA-AU 6 97580440 97580440 single base substitution G A downstream_gene_variant MELA-AU 6 97580440 97580440 single base substitution G A intron_variant MELA-AU 6 97580486 97580486 single base substitution G A downstream_gene_variant MELA-AU 6 97580486 97580486 single base substitution G A intron_variant MELA-AU 6 97581336 97581336 single base substitution C T downstream_gene_variant MELA-AU 6 97581336 97581336 single base substitution C T intron_variant MELA-AU 6 97581415 97581415 single base substitution G A downstream_gene_variant MELA-AU 6 97581415 97581415 single base substitution G A intron_variant MELA-AU 6 97582058 97582058 single base substitution C T downstream_gene_variant MELA-AU 6 97582058 97582058 single base substitution C T intron_variant MELA-AU 6 97582605 97582605 single base substitution G A downstream_gene_variant MELA-AU 6 97582605 97582605 single base substitution G A intron_variant MELA-AU 6 97582725 97582725 single base substitution G A downstream_gene_variant MELA-AU 6 97582725 97582725 single base substitution G A intron_variant MELA-AU 6 97583319 97583319 single base substitution T A downstream_gene_variant MELA-AU 6 97583319 97583319 single base substitution T A intron_variant MELA-AU 6 97583622 97583622 single base substitution T A downstream_gene_variant MELA-AU 6 97583622 97583622 single base substitution T A intron_variant MELA-AU 6 97583669 97583669 single base substitution G A downstream_gene_variant MELA-AU 6 97583669 97583669 single base substitution G A intron_variant MELA-AU 6 97583979 97583979 single base substitution C T intron_variant MELA-AU 6 97584126 97584126 single base substitution G A intron_variant MELA-AU 6 97584315 97584315 single base substitution T C intron_variant MELA-AU 6 97584366 97584366 single base substitution G A intron_variant MELA-AU 6 97584432 97584432 single base substitution C T intron_variant MELA-AU 6 97584603 97584603 single base substitution C T intron_variant MELA-AU 6 97584694 97584694 single base substitution A T intron_variant MELA-AU 6 97584717 97584717 single base substitution G A intron_variant MELA-AU 6 97584791 97584791 single base substitution G A intron_variant MELA-AU 6 97585036 97585036 single base substitution G A intron_variant MELA-AU 6 97585357 97585357 single base substitution G A intron_variant MELA-AU 6 97586412 97586412 single base substitution A C intron_variant MELA-AU 6 97586483 97586483 single base substitution G A intron_variant MELA-AU 6 97586484 97586484 single base substitution G A intron_variant MELA-AU 6 97586488 97586488 single base substitution G A intron_variant MELA-AU 6 97586643 97586643 single base substitution A G intron_variant MELA-AU 6 97587324 97587324 single base substitution C T 3_prime_UTR_variant MELA-AU 6 97588558 97588558 single base substitution G A 3_prime_UTR_variant MELA-AU 6 97588558 97588558 single base substitution G A downstream_gene_variant MELA-AU 6 97588760 97588760 single base substitution T C downstream_gene_variant MELA-AU 6 97589214 97589214 single base substitution G A downstream_gene_variant MELA-AU 6 97589348 97589348 single base substitution G A downstream_gene_variant MELA-AU 6 97589808 97589808 single base substitution C T downstream_gene_variant MELA-AU 6 97593016 97593016 single base substitution G A downstream_gene_variant MELA-AU 6 97593183 97593183 single base substitution T C downstream_gene_variant MELA-AU 6 97593301 97593301 single base substitution G A downstream_gene_variant ORCA-IN 6 97390562 97390562 single base substitution T A intron_variant ORCA-IN 6 97390566 97390566 insertion of <=200bp - GT intron_variant ORCA-IN 6 97396502 97396502 single base substitution G A intron_variant ORCA-IN 6 97410590 97410590 single base substitution C T intron_variant ORCA-IN 6 97410590 97410590 single base substitution C T upstream_gene_variant ORCA-IN 6 97428727 97428727 single base substitution T C intron_variant ORCA-IN 6 97431481 97431481 single base substitution C A intron_variant ORCA-IN 6 97481194 97481194 single base substitution G A intron_variant ORCA-IN 6 97488710 97488710 single base substitution A G intron_variant ORCA-IN 6 97500146 97500146 single base substitution A G intron_variant ORCA-IN 6 97517294 97517294 deletion of <=200bp G - intron_variant ORCA-IN 6 97528782 97528782 single base substitution G A intron_variant ORCA-IN 6 97542448 97542448 single base substitution T C intron_variant ORCA-IN 6 97555581 97555581 single base substitution G A intron_variant ORCA-IN 6 97565760 97565760 single base substitution G T downstream_gene_variant ORCA-IN 6 97565760 97565760 single base substitution G T intron_variant ORCA-IN 6 97576277 97576277 single base substitution T A intron_variant OV-AU 6 97368782 97368782 single base substitution G C upstream_gene_variant OV-AU 6 97377878 97377878 single base substitution C T intron_variant OV-AU 6 97383415 97383415 single base substitution G T intron_variant OV-AU 6 97384527 97384527 single base substitution G A intron_variant OV-AU 6 97385124 97385124 single base substitution C G intron_variant OV-AU 6 97389215 97389215 single base substitution C T intron_variant OV-AU 6 97392466 97392466 single base substitution T A intron_variant OV-AU 6 97398070 97398070 single base substitution T C intron_variant OV-AU 6 97399876 97399876 single base substitution T G intron_variant OV-AU 6 97406947 97406947 single base substitution C T intron_variant OV-AU 6 97410925 97410925 single base substitution C A intron_variant OV-AU 6 97410925 97410925 single base substitution C A upstream_gene_variant OV-AU 6 97413504 97413504 single base substitution G A intron_variant OV-AU 6 97413504 97413504 single base substitution G A upstream_gene_variant OV-AU 6 97428880 97428880 single base substitution G A intron_variant OV-AU 6 97428883 97428883 single base substitution C T intron_variant OV-AU 6 97429210 97429210 single base substitution C A intron_variant OV-AU 6 97439787 97439787 single base substitution G A intron_variant OV-AU 6 97444117 97444117 single base substitution G A intron_variant OV-AU 6 97444220 97444220 single base substitution T G intron_variant OV-AU 6 97450352 97450352 single base substitution T A intron_variant OV-AU 6 97452431 97452431 single base substitution C T intron_variant OV-AU 6 97452692 97452692 single base substitution G T intron_variant OV-AU 6 97453011 97453011 single base substitution T C intron_variant OV-AU 6 97453580 97453580 single base substitution A G intron_variant OV-AU 6 97456779 97456779 single base substitution G A intron_variant OV-AU 6 97460381 97460381 single base substitution A T intron_variant OV-AU 6 97464339 97464339 single base substitution C A intron_variant OV-AU 6 97465883 97465883 single base substitution A T intron_variant OV-AU 6 97466289 97466289 single base substitution C A intron_variant OV-AU 6 97468180 97468180 single base substitution A C intron_variant OV-AU 6 97470636 97470636 single base substitution G A intron_variant OV-AU 6 97478785 97478785 single base substitution T C intron_variant OV-AU 6 97480237 97480237 single base substitution A G intron_variant OV-AU 6 97480391 97480391 single base substitution C A intron_variant OV-AU 6 97483523 97483523 single base substitution T C intron_variant OV-AU 6 97486186 97486186 single base substitution C G intron_variant OV-AU 6 97497072 97497072 single base substitution T C intron_variant OV-AU 6 97497275 97497275 single base substitution C G intron_variant OV-AU 6 97498459 97498459 single base substitution C T intron_variant OV-AU 6 97505729 97505729 single base substitution T A intron_variant OV-AU 6 97509586 97509586 single base substitution C G intron_variant OV-AU 6 97509586 97509586 single base substitution C G upstream_gene_variant OV-AU 6 97509880 97509880 single base substitution T A intron_variant OV-AU 6 97509880 97509880 single base substitution T A upstream_gene_variant OV-AU 6 97511148 97511148 single base substitution A T intron_variant OV-AU 6 97511148 97511148 single base substitution A T upstream_gene_variant OV-AU 6 97511237 97511237 single base substitution T C intron_variant OV-AU 6 97511237 97511237 single base substitution T C upstream_gene_variant OV-AU 6 97516653 97516653 single base substitution T A intron_variant OV-AU 6 97526320 97526320 single base substitution T C intron_variant OV-AU 6 97526550 97526550 single base substitution T G intron_variant OV-AU 6 97526712 97526712 single base substitution A T intron_variant OV-AU 6 97528706 97528706 single base substitution C G intron_variant OV-AU 6 97547834 97547834 single base substitution A C intron_variant OV-AU 6 97551316 97551316 single base substitution C T intron_variant OV-AU 6 97551561 97551561 single base substitution C A intron_variant OV-AU 6 97556339 97556339 single base substitution T A intron_variant OV-AU 6 97566659 97566659 single base substitution T G downstream_gene_variant OV-AU 6 97566659 97566659 single base substitution T G intron_variant OV-AU 6 97571194 97571194 single base substitution C T intron_variant OV-AU 6 97575190 97575190 single base substitution C G intron_variant OV-AU 6 97586275 97586275 single base substitution C T intron_variant OV-AU 6 97587537 97587537 single base substitution C G 3_prime_UTR_variant OV-AU 6 97587537 97587537 single base substitution C G downstream_gene_variant OV-AU 6 97589585 97589585 single base substitution C G downstream_gene_variant OV-AU 6 97592752 97592752 single base substitution T A downstream_gene_variant OV-US 6 97533046 97533046 single base substitution C T intron_variant OV-US 6 97533046 97533046 single base substitution C T synonymous_variant D116D 348C>T OV-US 6 97533046 97533046 single base substitution C T synonymous_variant D152D 456C>T OV-US 6 97533046 97533046 single base substitution C T synonymous_variant D48D 144C>T OV-US 6 97533046 97533046 single base substitution C T synonymous_variant D83D 249C>T OV-US 6 97587058 97587058 single base substitution C T missense_variant A144V 431C>T OV-US 6 97587058 97587058 single base substitution C T missense_variant A519V 1556C>T OV-US 6 97587058 97587058 single base substitution C T missense_variant A552V 1655C>T OV-US 6 97587058 97587058 single base substitution C T missense_variant A588V 1763C>T PACA-AU 6 97372178 97372178 single base substitution G T upstream_gene_variant PACA-AU 6 97377213 97377213 single base substitution A G intron_variant PACA-AU 6 97379780 97379780 single base substitution G A intron_variant PACA-AU 6 97379869 97379869 single base substitution G A intron_variant PACA-AU 6 97385705 97385705 single base substitution C A intron_variant PACA-AU 6 97386898 97386898 single base substitution C A intron_variant PACA-AU 6 97387671 97387671 single base substitution G T intron_variant PACA-AU 6 97389509 97389509 single base substitution C T intron_variant PACA-AU 6 97390473 97390473 single base substitution C A intron_variant PACA-AU 6 97395369 97395369 single base substitution G T intron_variant PACA-AU 6 97400032 97400032 single base substitution G T intron_variant PACA-AU 6 97401189 97401189 single base substitution G T intron_variant PACA-AU 6 97410200 97410200 single base substitution C T intron_variant PACA-AU 6 97410200 97410200 single base substitution C T upstream_gene_variant PACA-AU 6 97410604 97410604 single base substitution C G intron_variant PACA-AU 6 97410604 97410604 single base substitution C G upstream_gene_variant PACA-AU 6 97410605 97410605 single base substitution A G intron_variant PACA-AU 6 97410605 97410605 single base substitution A G upstream_gene_variant PACA-AU 6 97412161 97412163 deletion of <=200bp AGA - intron_variant PACA-AU 6 97412161 97412163 deletion of <=200bp AGA - upstream_gene_variant PACA-AU 6 97415110 97415110 single base substitution C T intron_variant PACA-AU 6 97419532 97419532 single base substitution G T intron_variant PACA-AU 6 97419795 97419795 single base substitution C T intron_variant PACA-AU 6 97421841 97421841 single base substitution A C intron_variant PACA-AU 6 97422400 97422400 single base substitution C G intron_variant PACA-AU 6 97430074 97430074 single base substitution G C intron_variant PACA-AU 6 97431625 97431625 single base substitution C T intron_variant PACA-AU 6 97432889 97432889 single base substitution A T intron_variant PACA-AU 6 97435296 97435296 single base substitution C A intron_variant PACA-AU 6 97437376 97437376 single base substitution A T intron_variant PACA-AU 6 97437778 97437778 single base substitution A T intron_variant PACA-AU 6 97438726 97438726 single base substitution C A intron_variant PACA-AU 6 97440177 97440177 single base substitution G A intron_variant PACA-AU 6 97442624 97442624 insertion of <=200bp - T intron_variant PACA-AU 6 97445667 97445667 single base substitution A G intron_variant PACA-AU 6 97452697 97452697 single base substitution A G intron_variant PACA-AU 6 97460032 97460032 single base substitution A G intron_variant PACA-AU 6 97461787 97461787 single base substitution C T intron_variant PACA-AU 6 97462034 97462036 deletion of <=200bp GTG - intron_variant PACA-AU 6 97464260 97464260 single base substitution C T intron_variant PACA-AU 6 97465085 97465085 single base substitution G A intron_variant PACA-AU 6 97468864 97468864 single base substitution T C intron_variant PACA-AU 6 97469285 97469285 single base substitution G A intron_variant PACA-AU 6 97473249 97473249 single base substitution C T intron_variant PACA-AU 6 97476279 97476279 single base substitution C T intron_variant PACA-AU 6 97478217 97478217 single base substitution A T intron_variant PACA-AU 6 97483953 97483953 single base substitution A T intron_variant PACA-AU 6 97487729 97487729 single base substitution G C intron_variant PACA-AU 6 97490931 97490931 single base substitution G A intron_variant PACA-AU 6 97492257 97492257 single base substitution T C intron_variant PACA-AU 6 97493597 97493597 single base substitution C T intron_variant PACA-AU 6 97493782 97493782 single base substitution G A intron_variant PACA-AU 6 97495802 97495802 single base substitution G T intron_variant PACA-AU 6 97501148 97501148 single base substitution T C intron_variant PACA-AU 6 97501723 97501723 single base substitution C T intron_variant PACA-AU 6 97502169 97502169 single base substitution T C intron_variant PACA-AU 6 97502779 97502779 single base substitution C T intron_variant PACA-AU 6 97503561 97503562 deletion of <=200bp CT - intron_variant PACA-AU 6 97504238 97504238 single base substitution C T intron_variant PACA-AU 6 97509306 97509306 single base substitution G T intron_variant PACA-AU 6 97509306 97509306 single base substitution G T upstream_gene_variant PACA-AU 6 97514359 97514359 single base substitution T A intron_variant PACA-AU 6 97514707 97514707 single base substitution A G intron_variant PACA-AU 6 97515821 97515821 single base substitution G A intron_variant PACA-AU 6 97525695 97525695 single base substitution C G intron_variant PACA-AU 6 97526977 97526977 single base substitution G T intron_variant PACA-AU 6 97527279 97527279 single base substitution T C intron_variant PACA-AU 6 97530514 97530514 single base substitution A T intron_variant PACA-AU 6 97539171 97539171 single base substitution C G intron_variant PACA-AU 6 97539262 97539262 single base substitution C T intron_variant PACA-AU 6 97540480 97540480 single base substitution T C intron_variant PACA-AU 6 97540528 97540528 single base substitution T G intron_variant PACA-AU 6 97542183 97542183 single base substitution A G intron_variant PACA-AU 6 97542560 97542560 single base substitution C A intron_variant PACA-AU 6 97543580 97543580 single base substitution C A intron_variant PACA-AU 6 97546018 97546018 single base substitution G A intron_variant PACA-AU 6 97546639 97546639 single base substitution A G intron_variant PACA-AU 6 97548207 97548207 single base substitution C T intron_variant PACA-AU 6 97549560 97549560 single base substitution T G intron_variant PACA-AU 6 97551863 97551863 single base substitution G A intron_variant PACA-AU 6 97556327 97556327 single base substitution C G intron_variant PACA-AU 6 97560416 97560416 single base substitution G A intron_variant PACA-AU 6 97561953 97561953 single base substitution C T 3_prime_UTR_variant PACA-AU 6 97561953 97561953 single base substitution C T intron_variant PACA-AU 6 97561953 97561953 single base substitution C T missense_variant R239W 715C>T PACA-AU 6 97561953 97561953 single base substitution C T missense_variant R272W 814C>T PACA-AU 6 97561953 97561953 single base substitution C T missense_variant R308W 922C>T PACA-AU 6 97563787 97563787 single base substitution C T downstream_gene_variant PACA-AU 6 97563787 97563787 single base substitution C T intron_variant PACA-AU 6 97563869 97563869 insertion of <=200bp - TGTT downstream_gene_variant PACA-AU 6 97563869 97563869 insertion of <=200bp - TGTT intron_variant PACA-AU 6 97567012 97567012 single base substitution C T downstream_gene_variant PACA-AU 6 97567012 97567012 single base substitution C T intron_variant PACA-AU 6 97568084 97568084 single base substitution C A intron_variant PACA-AU 6 97568891 97568891 single base substitution A G intron_variant PACA-AU 6 97574234 97574234 single base substitution G C intron_variant PACA-AU 6 97574937 97574937 single base substitution G A intron_variant PACA-AU 6 97584824 97584824 single base substitution G T intron_variant PACA-AU 6 97586044 97586044 single base substitution A T intron_variant PACA-AU 6 97587047 97587047 single base substitution A G synonymous_variant T140T 420A>G PACA-AU 6 97587047 97587047 single base substitution A G synonymous_variant T515T 1545A>G PACA-AU 6 97587047 97587047 single base substitution A G synonymous_variant T548T 1644A>G PACA-AU 6 97587047 97587047 single base substitution A G synonymous_variant T584T 1752A>G PACA-AU 6 97587811 97587811 single base substitution T C 3_prime_UTR_variant PACA-AU 6 97587811 97587811 single base substitution T C downstream_gene_variant PACA-AU 6 97587857 97587857 single base substitution G A 3_prime_UTR_variant PACA-AU 6 97587857 97587857 single base substitution G A downstream_gene_variant PACA-CA 6 97370557 97370557 single base substitution G T upstream_gene_variant PACA-CA 6 97373493 97373493 single base substitution T C intron_variant PACA-CA 6 97375201 97375201 single base substitution A C intron_variant PACA-CA 6 97375431 97375431 single base substitution T A intron_variant PACA-CA 6 97377641 97377641 single base substitution G T intron_variant PACA-CA 6 97379685 97379685 single base substitution C T intron_variant PACA-CA 6 97382417 97382417 single base substitution C T intron_variant PACA-CA 6 97383221 97383221 single base substitution G T intron_variant PACA-CA 6 97385931 97385931 single base substitution C T intron_variant PACA-CA 6 97385937 97385937 single base substitution C T intron_variant PACA-CA 6 97387580 97387582 deletion of <=200bp AGA - intron_variant PACA-CA 6 97393219 97393219 single base substitution C A intron_variant PACA-CA 6 97393772 97393772 single base substitution G T intron_variant PACA-CA 6 97394712 97394712 deletion of <=200bp A - intron_variant PACA-CA 6 97394765 97394765 single base substitution G C intron_variant PACA-CA 6 97397635 97397635 deletion of <=200bp T - intron_variant PACA-CA 6 97401362 97401362 single base substitution C T intron_variant PACA-CA 6 97402175 97402175 single base substitution T C intron_variant PACA-CA 6 97403325 97403325 insertion of <=200bp - T intron_variant PACA-CA 6 97404034 97404034 single base substitution C T intron_variant PACA-CA 6 97404263 97404263 single base substitution C T intron_variant PACA-CA 6 97404867 97404867 single base substitution G A intron_variant PACA-CA 6 97411526 97411526 single base substitution C T intron_variant PACA-CA 6 97411526 97411526 single base substitution C T upstream_gene_variant PACA-CA 6 97412744 97412744 single base substitution C T intron_variant PACA-CA 6 97412744 97412744 single base substitution C T upstream_gene_variant PACA-CA 6 97413263 97413263 single base substitution T C intron_variant PACA-CA 6 97413263 97413263 single base substitution T C upstream_gene_variant PACA-CA 6 97413437 97413437 single base substitution T C intron_variant PACA-CA 6 97413437 97413437 single base substitution T C upstream_gene_variant PACA-CA 6 97413764 97413764 deletion of <=200bp A - intron_variant PACA-CA 6 97413764 97413764 deletion of <=200bp A - upstream_gene_variant PACA-CA 6 97414128 97414128 single base substitution A T intron_variant PACA-CA 6 97414128 97414128 single base substitution A T upstream_gene_variant PACA-CA 6 97415352 97415352 single base substitution G T intron_variant PACA-CA 6 97416845 97416845 single base substitution C A intron_variant PACA-CA 6 97417021 97417021 single base substitution T A intron_variant PACA-CA 6 97418635 97418635 single base substitution A T intron_variant PACA-CA 6 97419594 97419594 single base substitution G A intron_variant PACA-CA 6 97419729 97419729 single base substitution A T intron_variant PACA-CA 6 97423190 97423190 single base substitution T A intron_variant PACA-CA 6 97425046 97425046 single base substitution T C intron_variant PACA-CA 6 97427643 97427643 single base substitution C T intron_variant PACA-CA 6 97429242 97429242 deletion of <=200bp T - intron_variant PACA-CA 6 97429242 97429242 single base substitution T G intron_variant PACA-CA 6 97430220 97430220 single base substitution C A intron_variant PACA-CA 6 97433604 97433604 single base substitution C A intron_variant PACA-CA 6 97435064 97435064 single base substitution G C intron_variant PACA-CA 6 97435209 97435209 single base substitution T C intron_variant PACA-CA 6 97436035 97436035 single base substitution A T intron_variant PACA-CA 6 97437850 97437850 single base substitution C T intron_variant PACA-CA 6 97438174 97438174 single base substitution A T intron_variant PACA-CA 6 97439864 97439864 single base substitution C T intron_variant PACA-CA 6 97441673 97441673 single base substitution C G intron_variant PACA-CA 6 97442088 97442088 single base substitution A G intron_variant PACA-CA 6 97442293 97442293 insertion of <=200bp - T intron_variant PACA-CA 6 97442831 97442831 single base substitution C T intron_variant PACA-CA 6 97442917 97442917 single base substitution A G intron_variant PACA-CA 6 97443667 97443667 single base substitution C T intron_variant PACA-CA 6 97444509 97444509 single base substitution G A intron_variant PACA-CA 6 97444883 97444883 single base substitution C T intron_variant PACA-CA 6 97445156 97445156 single base substitution C A intron_variant PACA-CA 6 97446139 97446139 single base substitution C T intron_variant PACA-CA 6 97449751 97449751 single base substitution A T intron_variant PACA-CA 6 97449772 97449772 single base substitution G A intron_variant PACA-CA 6 97451159 97451159 single base substitution G C intron_variant PACA-CA 6 97453917 97453917 single base substitution C T intron_variant PACA-CA 6 97457703 97457703 deletion of <=200bp A - intron_variant PACA-CA 6 97458684 97458684 single base substitution T G intron_variant PACA-CA 6 97459861 97459861 single base substitution G T intron_variant PACA-CA 6 97462818 97462818 single base substitution G A intron_variant PACA-CA 6 97464369 97464369 single base substitution A C intron_variant PACA-CA 6 97464694 97464694 single base substitution C T intron_variant PACA-CA 6 97473427 97473427 single base substitution A G intron_variant PACA-CA 6 97476045 97476045 single base substitution G A intron_variant PACA-CA 6 97478474 97478474 single base substitution A T intron_variant PACA-CA 6 97478565 97478565 insertion of <=200bp - T intron_variant PACA-CA 6 97479416 97479416 single base substitution G A intron_variant PACA-CA 6 97480174 97480174 single base substitution A G intron_variant PACA-CA 6 97481259 97481259 single base substitution C T intron_variant PACA-CA 6 97481459 97481459 deletion of <=200bp T - intron_variant PACA-CA 6 97483809 97483809 single base substitution A G intron_variant PACA-CA 6 97489085 97489085 single base substitution C T intron_variant PACA-CA 6 97491496 97491496 single base substitution T G intron_variant PACA-CA 6 97491610 97491610 single base substitution T A intron_variant PACA-CA 6 97493346 97493346 single base substitution G A intron_variant PACA-CA 6 97495514 97495514 single base substitution G C intron_variant PACA-CA 6 97498648 97498648 single base substitution G T intron_variant PACA-CA 6 97498723 97498723 deletion of <=200bp A - intron_variant PACA-CA 6 97500021 97500021 single base substitution C G intron_variant PACA-CA 6 97501021 97501021 single base substitution C A intron_variant PACA-CA 6 97501062 97501062 single base substitution T G intron_variant PACA-CA 6 97501088 97501088 single base substitution A C intron_variant PACA-CA 6 97501595 97501595 insertion of <=200bp - T intron_variant PACA-CA 6 97503884 97503884 single base substitution C T intron_variant PACA-CA 6 97504778 97504778 single base substitution G A intron_variant PACA-CA 6 97507117 97507119 deletion of <=200bp GAG - intron_variant PACA-CA 6 97507817 97507817 single base substitution G T intron_variant PACA-CA 6 97507817 97507817 single base substitution G T upstream_gene_variant PACA-CA 6 97518757 97518757 single base substitution G C intron_variant PACA-CA 6 97523651 97523651 single base substitution A G intron_variant PACA-CA 6 97523925 97523925 deletion of <=200bp G - intron_variant PACA-CA 6 97525118 97525118 single base substitution A T intron_variant PACA-CA 6 97526203 97526203 single base substitution T C intron_variant PACA-CA 6 97526799 97526799 single base substitution C T intron_variant PACA-CA 6 97528660 97528660 single base substitution A C intron_variant PACA-CA 6 97530260 97530260 single base substitution C T intron_variant PACA-CA 6 97530868 97530868 deletion of <=200bp C - intron_variant PACA-CA 6 97533226 97533226 single base substitution G A intron_variant PACA-CA 6 97540088 97540088 single base substitution A T intron_variant PACA-CA 6 97542463 97542463 single base substitution C T intron_variant PACA-CA 6 97544098 97544098 single base substitution G A intron_variant PACA-CA 6 97544288 97544288 single base substitution G T intron_variant PACA-CA 6 97547804 97547804 single base substitution A G intron_variant PACA-CA 6 97552937 97552937 single base substitution G C intron_variant PACA-CA 6 97555229 97555229 single base substitution A T intron_variant PACA-CA 6 97560641 97560641 single base substitution T A intron_variant PACA-CA 6 97560642 97560642 single base substitution A T intron_variant PACA-CA 6 97563397 97563397 single base substitution C T downstream_gene_variant PACA-CA 6 97563397 97563397 single base substitution C T intron_variant PACA-CA 6 97564829 97564829 single base substitution G A downstream_gene_variant PACA-CA 6 97564829 97564829 single base substitution G A intron_variant PACA-CA 6 97565086 97565086 single base substitution A G downstream_gene_variant PACA-CA 6 97565086 97565086 single base substitution A G intron_variant PACA-CA 6 97567455 97567455 single base substitution G A intron_variant PACA-CA 6 97568973 97568973 single base substitution G A intron_variant PACA-CA 6 97569443 97569443 insertion of <=200bp - T intron_variant PACA-CA 6 97575465 97575465 single base substitution G T intron_variant PACA-CA 6 97579517 97579517 single base substitution C T downstream_gene_variant PACA-CA 6 97579517 97579517 single base substitution C T intron_variant PACA-CA 6 97583372 97583372 single base substitution C T downstream_gene_variant PACA-CA 6 97583372 97583372 single base substitution C T intron_variant PACA-CA 6 97587211 97587211 single base substitution T C 3_prime_UTR_variant PAEN-AU 6 97369839 97369839 single base substitution A T upstream_gene_variant PAEN-AU 6 97377016 97377016 single base substitution C T intron_variant PAEN-AU 6 97402753 97402753 single base substitution C T intron_variant PAEN-AU 6 97445935 97445935 single base substitution C T intron_variant PAEN-AU 6 97505465 97505465 single base substitution T G intron_variant PAEN-AU 6 97544148 97544148 single base substitution C T intron_variant PAEN-AU 6 97558362 97558362 single base substitution C T intron_variant PAEN-IT 6 97380004 97380004 single base substitution G T intron_variant PAEN-IT 6 97442452 97442452 single base substitution G A intron_variant PAEN-IT 6 97502105 97502105 single base substitution A G intron_variant PAEN-IT 6 97538935 97538935 single base substitution T A intron_variant PAEN-IT 6 97591784 97591784 single base substitution C A downstream_gene_variant PBCA-DE 6 97372350 97372350 single base substitution C G upstream_gene_variant PBCA-DE 6 97381789 97381789 single base substitution A T intron_variant PBCA-DE 6 97382608 97382608 single base substitution A G intron_variant PBCA-DE 6 97390531 97390532 deletion of <=200bp GT - intron_variant PBCA-DE 6 97390913 97390914 deletion of <=200bp AC - intron_variant PBCA-DE 6 97405765 97405765 single base substitution A T intron_variant PBCA-DE 6 97406622 97406622 insertion of <=200bp - AGCAGCAGGACTG intron_variant PBCA-DE 6 97406852 97406852 single base substitution C T intron_variant PBCA-DE 6 97415971 97415971 single base substitution T C intron_variant PBCA-DE 6 97418889 97418889 single base substitution T G intron_variant PBCA-DE 6 97419730 97419730 single base substitution T A intron_variant PBCA-DE 6 97420530 97420530 insertion of <=200bp - T intron_variant PBCA-DE 6 97424449 97424450 deletion of <=200bp AT - intron_variant PBCA-DE 6 97430842 97430842 insertion of <=200bp - A intron_variant PBCA-DE 6 97433435 97433435 deletion of <=200bp C - intron_variant PBCA-DE 6 97436134 97436134 insertion of <=200bp - A intron_variant PBCA-DE 6 97446307 97446307 single base substitution G A intron_variant PBCA-DE 6 97449233 97449233 single base substitution T C intron_variant PBCA-DE 6 97450597 97450597 single base substitution C T intron_variant PBCA-DE 6 97457660 97457660 single base substitution A G intron_variant PBCA-DE 6 97481459 97481459 insertion of <=200bp - T intron_variant PBCA-DE 6 97487488 97487488 single base substitution G T intron_variant PBCA-DE 6 97496133 97496133 single base substitution C T intron_variant PBCA-DE 6 97497565 97497565 single base substitution A G intron_variant PBCA-DE 6 97500960 97500961 deletion of <=200bp AC - intron_variant PBCA-DE 6 97502987 97502987 single base substitution G C intron_variant PBCA-DE 6 97503583 97503583 single base substitution A C intron_variant PBCA-DE 6 97515886 97515889 deletion of <=200bp ACAC - intron_variant PBCA-DE 6 97521480 97521480 single base substitution C T intron_variant PBCA-DE 6 97527741 97527741 insertion of <=200bp - A intron_variant PBCA-DE 6 97538089 97538089 single base substitution A G intron_variant PBCA-DE 6 97549134 97549134 single base substitution A T intron_variant PBCA-DE 6 97566496 97566496 insertion of <=200bp - AAAAAA downstream_gene_variant PBCA-DE 6 97566496 97566496 insertion of <=200bp - AAAAAA intron_variant PBCA-DE 6 97570834 97570834 single base substitution T G intron_variant PBCA-DE 6 97582919 97582921 deletion of <=200bp TCC - downstream_gene_variant PBCA-DE 6 97582919 97582921 deletion of <=200bp TCC - intron_variant PBCA-DE 6 97584985 97584985 single base substitution A G intron_variant PBCA-DE 6 97586368 97586368 single base substitution T C intron_variant PBCA-DE 6 97592614 97592614 deletion of <=200bp A - downstream_gene_variant PRAD-CA 6 97370874 97370874 single base substitution G C upstream_gene_variant PRAD-CA 6 97398817 97398817 single base substitution C T intron_variant PRAD-CA 6 97452284 97452284 single base substitution T C intron_variant PRAD-CA 6 97457900 97457900 single base substitution T G intron_variant PRAD-CA 6 97464226 97464226 single base substitution T C intron_variant PRAD-CA 6 97473240 97473240 single base substitution G C intron_variant PRAD-CA 6 97504784 97504784 single base substitution A G intron_variant PRAD-CA 6 97556848 97556848 single base substitution G A intron_variant PRAD-CA 6 97566368 97566368 single base substitution G A downstream_gene_variant PRAD-CA 6 97566368 97566368 single base substitution G A intron_variant PRAD-CA 6 97577184 97577184 single base substitution G A intron_variant PRAD-UK 6 97367951 97367951 single base substitution G A upstream_gene_variant PRAD-UK 6 97369528 97369528 single base substitution C T upstream_gene_variant PRAD-UK 6 97371131 97371131 single base substitution C T upstream_gene_variant PRAD-UK 6 97380483 97380483 single base substitution C T intron_variant PRAD-UK 6 97380735 97380735 single base substitution C T intron_variant PRAD-UK 6 97395195 97395195 single base substitution G A intron_variant PRAD-UK 6 97409102 97409102 single base substitution C G intron_variant PRAD-UK 6 97424685 97424685 single base substitution G A intron_variant PRAD-UK 6 97426054 97426054 single base substitution C T intron_variant PRAD-UK 6 97426747 97426747 single base substitution T G intron_variant PRAD-UK 6 97430582 97430582 single base substitution C T intron_variant PRAD-UK 6 97439700 97439700 single base substitution G A intron_variant PRAD-UK 6 97447302 97447302 single base substitution G A intron_variant PRAD-UK 6 97459114 97459114 single base substitution G T intron_variant PRAD-UK 6 97462649 97462649 deletion of <=200bp T - intron_variant PRAD-UK 6 97467087 97467087 single base substitution G A intron_variant PRAD-UK 6 97489769 97489769 single base substitution G T intron_variant PRAD-UK 6 97495032 97495032 single base substitution A C intron_variant PRAD-UK 6 97497851 97497851 single base substitution T G intron_variant PRAD-UK 6 97501596 97501596 insertion of <=200bp - T intron_variant PRAD-UK 6 97507460 97507460 single base substitution G A intron_variant PRAD-UK 6 97521026 97521026 single base substitution A G intron_variant PRAD-UK 6 97523924 97523924 single base substitution C T intron_variant PRAD-UK 6 97526460 97526460 single base substitution G C intron_variant PRAD-UK 6 97534936 97534936 single base substitution C T intron_variant PRAD-UK 6 97535025 97535052 multiple base substitution (>=2bp and <=200bp) AATTAAAAGACTCACATAAATATTATCA AGGC intron_variant PRAD-UK 6 97537632 97537632 single base substitution G T intron_variant PRAD-UK 6 97554523 97554523 single base substitution G C intron_variant PRAD-UK 6 97559904 97559904 single base substitution G C intron_variant PRAD-UK 6 97567096 97567096 single base substitution C T intron_variant PRAD-UK 6 97573421 97573421 single base substitution G A intron_variant READ-US 6 97561970 97561970 single base substitution T A 3_prime_UTR_variant READ-US 6 97561970 97561970 single base substitution T A intron_variant READ-US 6 97561970 97561970 single base substitution T A synonymous_variant V244V 732T>A READ-US 6 97561970 97561970 single base substitution T A synonymous_variant V277V 831T>A READ-US 6 97561970 97561970 single base substitution T A synonymous_variant V313V 939T>A READ-US 6 97562260 97562260 single base substitution G A downstream_gene_variant READ-US 6 97562260 97562260 single base substitution G A intron_variant READ-US 6 97562260 97562260 single base substitution G A missense_variant R341H 1022G>A READ-US 6 97562260 97562260 single base substitution G A missense_variant R374H 1121G>A READ-US 6 97562260 97562260 single base substitution G A missense_variant R410H 1229G>A READ-US 6 97580607 97580607 single base substitution C A downstream_gene_variant READ-US 6 97580607 97580607 single base substitution C A missense_variant P118H 353C>A READ-US 6 97580607 97580607 single base substitution C A missense_variant P493H 1478C>A READ-US 6 97580607 97580607 single base substitution C A missense_variant P526H 1577C>A READ-US 6 97580607 97580607 single base substitution C A missense_variant P562H 1685C>A RECA-EU 6 97377888 97377888 single base substitution T C intron_variant RECA-EU 6 97389179 97389179 single base substitution A C intron_variant RECA-EU 6 97393630 97393630 single base substitution G T intron_variant RECA-EU 6 97402540 97402540 single base substitution G A intron_variant RECA-EU 6 97406215 97406215 single base substitution A C intron_variant RECA-EU 6 97406217 97406217 single base substitution C T intron_variant RECA-EU 6 97415958 97415958 single base substitution A G intron_variant RECA-EU 6 97423479 97423479 single base substitution A G intron_variant RECA-EU 6 97430968 97430968 single base substitution G A intron_variant RECA-EU 6 97438338 97438338 single base substitution G T intron_variant RECA-EU 6 97440977 97440977 single base substitution A T intron_variant RECA-EU 6 97443351 97443351 single base substitution C T intron_variant RECA-EU 6 97451296 97451296 single base substitution A T intron_variant RECA-EU 6 97471248 97471248 single base substitution C A intron_variant RECA-EU 6 97476708 97476708 single base substitution G A intron_variant RECA-EU 6 97485390 97485390 single base substitution A T intron_variant RECA-EU 6 97492201 97492201 single base substitution C T intron_variant RECA-EU 6 97495610 97495610 single base substitution G C intron_variant RECA-EU 6 97502592 97502592 single base substitution C G intron_variant RECA-EU 6 97506579 97506579 single base substitution G A intron_variant RECA-EU 6 97520662 97520662 single base substitution A T intron_variant RECA-EU 6 97557934 97557934 single base substitution C T intron_variant RECA-EU 6 97564052 97564052 single base substitution G T downstream_gene_variant RECA-EU 6 97564052 97564052 single base substitution G T intron_variant RECA-EU 6 97574438 97574438 single base substitution G C intron_variant RECA-EU 6 97581242 97581242 single base substitution T C downstream_gene_variant RECA-EU 6 97581242 97581242 single base substitution T C intron_variant RECA-EU 6 97585425 97585425 single base substitution C T intron_variant SKCA-BR 6 97368272 97368272 single base substitution C T upstream_gene_variant SKCA-BR 6 97368301 97368301 single base substitution C T upstream_gene_variant SKCA-BR 6 97372676 97372676 insertion of <=200bp - GGC 5_prime_UTR_variant SKCA-BR 6 97372676 97372676 insertion of <=200bp - GGC upstream_gene_variant SKCA-BR 6 97377191 97377191 single base substitution G A intron_variant SKCA-BR 6 97377698 97377698 single base substitution G A intron_variant SKCA-BR 6 97380080 97380081 deletion of <=200bp TA - intron_variant SKCA-BR 6 97380081 97380081 insertion of <=200bp - ATT intron_variant SKCA-BR 6 97380081 97380081 single base substitution A T intron_variant SKCA-BR 6 97380451 97380451 insertion of <=200bp - CT intron_variant SKCA-BR 6 97380527 97380527 single base substitution T A intron_variant SKCA-BR 6 97384229 97384229 single base substitution G A intron_variant SKCA-BR 6 97386224 97386224 single base substitution C T intron_variant SKCA-BR 6 97389625 97389625 insertion of <=200bp - CT intron_variant SKCA-BR 6 97390311 97390311 single base substitution C T intron_variant SKCA-BR 6 97391160 97391160 single base substitution C T intron_variant SKCA-BR 6 97394057 97394057 single base substitution T A intron_variant SKCA-BR 6 97394067 97394067 single base substitution A G intron_variant SKCA-BR 6 97394588 97394588 single base substitution G T intron_variant SKCA-BR 6 97395732 97395732 single base substitution A G intron_variant SKCA-BR 6 97397822 97397822 single base substitution G T intron_variant SKCA-BR 6 97399299 97399299 single base substitution A G intron_variant SKCA-BR 6 97401544 97401544 single base substitution C T intron_variant SKCA-BR 6 97406619 97406619 single base substitution A T intron_variant SKCA-BR 6 97406620 97406620 single base substitution C T intron_variant SKCA-BR 6 97406621 97406621 insertion of <=200bp - CCCTCTGTGGGTGGATCCAGCAGCAGGACTG intron_variant SKCA-BR 6 97408266 97408266 single base substitution C T intron_variant SKCA-BR 6 97408337 97408337 single base substitution A T intron_variant SKCA-BR 6 97408482 97408482 single base substitution C T intron_variant SKCA-BR 6 97409317 97409317 single base substitution C T intron_variant SKCA-BR 6 97410590 97410590 insertion of <=200bp - CACTAGGT intron_variant SKCA-BR 6 97410590 97410590 insertion of <=200bp - CACTAGGT upstream_gene_variant SKCA-BR 6 97411123 97411123 single base substitution G A intron_variant SKCA-BR 6 97411123 97411123 single base substitution G A upstream_gene_variant SKCA-BR 6 97413759 97413759 single base substitution G A intron_variant SKCA-BR 6 97413759 97413759 single base substitution G A upstream_gene_variant SKCA-BR 6 97414334 97414334 single base substitution C T intron_variant SKCA-BR 6 97414334 97414334 single base substitution C T upstream_gene_variant SKCA-BR 6 97414341 97414341 single base substitution C A intron_variant SKCA-BR 6 97414341 97414341 single base substitution C A upstream_gene_variant SKCA-BR 6 97414382 97414382 single base substitution C T intron_variant SKCA-BR 6 97414382 97414382 single base substitution C T upstream_gene_variant SKCA-BR 6 97415728 97415728 single base substitution G A intron_variant SKCA-BR 6 97417511 97417511 single base substitution T C intron_variant SKCA-BR 6 97418444 97418444 single base substitution C T intron_variant SKCA-BR 6 97419661 97419661 single base substitution G A intron_variant SKCA-BR 6 97421607 97421607 insertion of <=200bp - TC intron_variant SKCA-BR 6 97421608 97421608 single base substitution T C intron_variant SKCA-BR 6 97428901 97428901 single base substitution A G intron_variant SKCA-BR 6 97429134 97429134 single base substitution G A intron_variant SKCA-BR 6 97430924 97430924 single base substitution C T intron_variant SKCA-BR 6 97431150 97431150 single base substitution T A intron_variant SKCA-BR 6 97431153 97431153 single base substitution A T intron_variant SKCA-BR 6 97431196 97431196 single base substitution A G intron_variant SKCA-BR 6 97431197 97431197 single base substitution G A intron_variant SKCA-BR 6 97431470 97431470 single base substitution C A intron_variant SKCA-BR 6 97431474 97431474 single base substitution A G intron_variant SKCA-BR 6 97431501 97431501 single base substitution G A intron_variant SKCA-BR 6 97431502 97431502 single base substitution G A intron_variant SKCA-BR 6 97431769 97431769 single base substitution G A intron_variant SKCA-BR 6 97433692 97433692 single base substitution G A intron_variant SKCA-BR 6 97434134 97434134 single base substitution C T intron_variant SKCA-BR 6 97434458 97434458 single base substitution T C intron_variant SKCA-BR 6 97439948 97439948 single base substitution C T intron_variant SKCA-BR 6 97441175 97441175 single base substitution G A intron_variant SKCA-BR 6 97454358 97454358 single base substitution T C intron_variant SKCA-BR 6 97458003 97458003 single base substitution A C intron_variant SKCA-BR 6 97463048 97463048 single base substitution C T intron_variant SKCA-BR 6 97464631 97464631 single base substitution C A intron_variant SKCA-BR 6 97466027 97466027 single base substitution C T intron_variant SKCA-BR 6 97466737 97466737 single base substitution G A intron_variant SKCA-BR 6 97466976 97466976 single base substitution C T intron_variant SKCA-BR 6 97467822 97467823 deletion of <=200bp AT - intron_variant SKCA-BR 6 97470947 97470947 single base substitution C T intron_variant SKCA-BR 6 97475591 97475591 single base substitution A G intron_variant SKCA-BR 6 97475963 97475963 single base substitution G A intron_variant SKCA-BR 6 97477049 97477049 single base substitution G A intron_variant SKCA-BR 6 97477244 97477244 single base substitution A T intron_variant SKCA-BR 6 97479822 97479822 insertion of <=200bp - ACC intron_variant SKCA-BR 6 97479825 97479825 insertion of <=200bp - TTA intron_variant SKCA-BR 6 97481723 97481723 single base substitution C T intron_variant SKCA-BR 6 97484295 97484295 single base substitution C T intron_variant SKCA-BR 6 97485301 97485301 single base substitution C T intron_variant SKCA-BR 6 97486221 97486221 single base substitution T A intron_variant SKCA-BR 6 97487644 97487644 single base substitution T C intron_variant SKCA-BR 6 97489633 97489633 single base substitution G A intron_variant SKCA-BR 6 97490101 97490101 single base substitution C T intron_variant SKCA-BR 6 97497464 97497464 single base substitution C G intron_variant SKCA-BR 6 97505370 97505370 single base substitution A G intron_variant SKCA-BR 6 97509939 97509939 single base substitution G A intron_variant SKCA-BR 6 97509939 97509939 single base substitution G A upstream_gene_variant SKCA-BR 6 97511563 97511563 single base substitution C T intron_variant SKCA-BR 6 97511563 97511563 single base substitution C T upstream_gene_variant SKCA-BR 6 97515068 97515068 single base substitution C T intron_variant SKCA-BR 6 97515697 97515697 single base substitution C T intron_variant SKCA-BR 6 97519698 97519698 single base substitution C T intron_variant SKCA-BR 6 97520484 97520484 single base substitution C T intron_variant SKCA-BR 6 97521632 97521632 single base substitution C T intron_variant SKCA-BR 6 97522934 97522934 single base substitution C T intron_variant SKCA-BR 6 97525187 97525187 single base substitution A G intron_variant SKCA-BR 6 97526784 97526784 single base substitution C T intron_variant SKCA-BR 6 97530924 97530924 single base substitution C T intron_variant SKCA-BR 6 97531125 97531125 single base substitution G T intron_variant SKCA-BR 6 97531265 97531266 deletion of <=200bp CA - intron_variant SKCA-BR 6 97533465 97533465 single base substitution C T intron_variant SKCA-BR 6 97536355 97536355 single base substitution G A intron_variant SKCA-BR 6 97538974 97538974 single base substitution G T intron_variant SKCA-BR 6 97541536 97541536 single base substitution C T intron_variant SKCA-BR 6 97544079 97544079 single base substitution G A intron_variant SKCA-BR 6 97545082 97545082 single base substitution C T intron_variant SKCA-BR 6 97546140 97546140 single base substitution G A intron_variant SKCA-BR 6 97551089 97551090 deletion of <=200bp CT - intron_variant SKCA-BR 6 97554730 97554730 single base substitution C T intron_variant SKCA-BR 6 97554877 97554877 single base substitution T G intron_variant SKCA-BR 6 97555487 97555487 single base substitution C G intron_variant SKCA-BR 6 97560325 97560325 insertion of <=200bp - AT intron_variant SKCA-BR 6 97563868 97563868 insertion of <=200bp - CTGTT downstream_gene_variant SKCA-BR 6 97563868 97563868 insertion of <=200bp - CTGTT intron_variant SKCA-BR 6 97566464 97566464 single base substitution C T downstream_gene_variant SKCA-BR 6 97566464 97566464 single base substitution C T intron_variant SKCA-BR 6 97566769 97566769 single base substitution A G downstream_gene_variant SKCA-BR 6 97566769 97566769 single base substitution A G intron_variant SKCA-BR 6 97568438 97568438 single base substitution G A intron_variant SKCA-BR 6 97572370 97572370 single base substitution G A intron_variant SKCA-BR 6 97574065 97574065 single base substitution A C intron_variant SKCA-BR 6 97577957 97577957 single base substitution G A intron_variant SKCA-BR 6 97584654 97584654 single base substitution C T intron_variant SKCA-BR 6 97592002 97592005 deletion of <=200bp AAAG - downstream_gene_variant SKCA-BR 6 97592943 97592943 single base substitution A C downstream_gene_variant SKCM-US 6 97424050 97424050 single base substitution C T 5_prime_UTR_variant SKCM-US 6 97424050 97424050 single base substitution C T synonymous_variant F67F 201C>T SKCM-US 6 97561827 97561827 single base substitution G A 3_prime_UTR_variant SKCM-US 6 97561827 97561827 single base substitution G A intron_variant SKCM-US 6 97561827 97561827 single base substitution G A missense_variant E197K 589G>A SKCM-US 6 97561827 97561827 single base substitution G A missense_variant E230K 688G>A SKCM-US 6 97561827 97561827 single base substitution G A missense_variant E266K 796G>A SKCM-US 6 97561953 97561953 single base substitution C T 3_prime_UTR_variant SKCM-US 6 97561953 97561953 single base substitution C T intron_variant SKCM-US 6 97561953 97561953 single base substitution C T missense_variant R239W 715C>T SKCM-US 6 97561953 97561953 single base substitution C T missense_variant R272W 814C>T SKCM-US 6 97561953 97561953 single base substitution C T missense_variant R308W 922C>T SKCM-US 6 97562022 97562022 single base substitution C T 3_prime_UTR_variant SKCM-US 6 97562022 97562022 single base substitution C T intron_variant SKCM-US 6 97562022 97562022 single base substitution C T missense_variant P262S 784C>T SKCM-US 6 97562022 97562022 single base substitution C T missense_variant P295S 883C>T SKCM-US 6 97562022 97562022 single base substitution C T missense_variant P331S 991C>T SKCM-US 6 97562123 97562123 single base substitution T G downstream_gene_variant SKCM-US 6 97562123 97562123 single base substitution T G intron_variant SKCM-US 6 97562123 97562123 single base substitution T G synonymous_variant A295A 885T>G SKCM-US 6 97562123 97562123 single base substitution T G synonymous_variant A328A 984T>G SKCM-US 6 97562123 97562123 single base substitution T G synonymous_variant A364A 1092T>G SKCM-US 6 97562220 97562220 single base substitution G A downstream_gene_variant SKCM-US 6 97562220 97562220 single base substitution G A intron_variant SKCM-US 6 97562220 97562220 single base substitution G A missense_variant E328K 982G>A SKCM-US 6 97562220 97562220 single base substitution G A missense_variant E361K 1081G>A SKCM-US 6 97562220 97562220 single base substitution G A missense_variant E397K 1189G>A SKCM-US 6 97562253 97562253 single base substitution G A downstream_gene_variant SKCM-US 6 97562253 97562253 single base substitution G A intron_variant SKCM-US 6 97562253 97562253 single base substitution G A missense_variant E339K 1015G>A SKCM-US 6 97562253 97562253 single base substitution G A missense_variant E372K 1114G>A SKCM-US 6 97562253 97562253 single base substitution G A missense_variant E408K 1222G>A SKCM-US 6 97562260 97562260 single base substitution G A downstream_gene_variant SKCM-US 6 97562260 97562260 single base substitution G A intron_variant SKCM-US 6 97562260 97562260 single base substitution G A missense_variant R341H 1022G>A SKCM-US 6 97562260 97562260 single base substitution G A missense_variant R374H 1121G>A SKCM-US 6 97562260 97562260 single base substitution G A missense_variant R410H 1229G>A SKCM-US 6 97562297 97562297 single base substitution G A downstream_gene_variant SKCM-US 6 97562297 97562297 single base substitution G A intron_variant SKCM-US 6 97562297 97562297 single base substitution G A synonymous_variant K353K 1059G>A SKCM-US 6 97562297 97562297 single base substitution G A synonymous_variant K386K 1158G>A SKCM-US 6 97562297 97562297 single base substitution G A synonymous_variant K422K 1266G>A SKCM-US 6 97587033 97587033 single base substitution T A missense_variant F136I 406T>A SKCM-US 6 97587033 97587033 single base substitution T A missense_variant F511I 1531T>A SKCM-US 6 97587033 97587033 single base substitution T A missense_variant F544I 1630T>A SKCM-US 6 97587033 97587033 single base substitution T A missense_variant F580I 1738T>A SKCM-US 6 97587155 97587155 single base substitution C T synonymous_variant I176I 528C>T SKCM-US 6 97587155 97587155 single base substitution C T synonymous_variant I551I 1653C>T SKCM-US 6 97587155 97587155 single base substitution C T synonymous_variant I584I 1752C>T SKCM-US 6 97587155 97587155 single base substitution C T synonymous_variant I620I 1860C>T SKCM-US 6 97587157 97587157 insertion of <=200bp - A frameshift_variant *177*? SKCM-US 6 97587157 97587157 insertion of <=200bp - A frameshift_variant *552*? SKCM-US 6 97587157 97587157 insertion of <=200bp - A frameshift_variant *585*? SKCM-US 6 97587157 97587157 insertion of <=200bp - A frameshift_variant *621*? STAD-US 6 97424044 97424044 single base substitution C A 5_prime_UTR_variant STAD-US 6 97424044 97424044 single base substitution C A missense_variant D65E 195C>A STAD-US 6 97562108 97562108 single base substitution T C downstream_gene_variant STAD-US 6 97562108 97562108 single base substitution T C intron_variant STAD-US 6 97562108 97562108 single base substitution T C synonymous_variant S290S 870T>C STAD-US 6 97562108 97562108 single base substitution T C synonymous_variant S323S 969T>C STAD-US 6 97562108 97562108 single base substitution T C synonymous_variant S359S 1077T>C STAD-US 6 97562222 97562222 single base substitution G A downstream_gene_variant STAD-US 6 97562222 97562222 single base substitution G A intron_variant STAD-US 6 97562222 97562222 single base substitution G A synonymous_variant E328E 984G>A STAD-US 6 97562222 97562222 single base substitution G A synonymous_variant E361E 1083G>A STAD-US 6 97562222 97562222 single base substitution G A synonymous_variant E397E 1191G>A STAD-US 6 97562260 97562260 single base substitution G A downstream_gene_variant STAD-US 6 97562260 97562260 single base substitution G A intron_variant STAD-US 6 97562260 97562260 single base substitution G A missense_variant R341H 1022G>A STAD-US 6 97562260 97562260 single base substitution G A missense_variant R374H 1121G>A STAD-US 6 97562260 97562260 single base substitution G A missense_variant R410H 1229G>A STAD-US 6 97562303 97562303 single base substitution C A downstream_gene_variant STAD-US 6 97562303 97562303 single base substitution C A intron_variant STAD-US 6 97562303 97562303 single base substitution C A missense_variant N355K 1065C>A STAD-US 6 97562303 97562303 single base substitution C A missense_variant N388K 1164C>A STAD-US 6 97562303 97562303 single base substitution C A missense_variant N424K 1272C>A STAD-US 6 97562324 97562324 single base substitution C A downstream_gene_variant STAD-US 6 97562324 97562324 single base substitution C A intron_variant STAD-US 6 97562324 97562324 single base substitution C A synonymous_variant S362S 1086C>A STAD-US 6 97562324 97562324 single base substitution C A synonymous_variant S395S 1185C>A STAD-US 6 97562324 97562324 single base substitution C A synonymous_variant S431S 1293C>A STAD-US 6 97587132 97587132 single base substitution C T missense_variant P169S 505C>T STAD-US 6 97587132 97587132 single base substitution C T missense_variant P544S 1630C>T STAD-US 6 97587132 97587132 single base substitution C T missense_variant P577S 1729C>T STAD-US 6 97587132 97587132 single base substitution C T missense_variant P613S 1837C>T THCA-SA 6 97533122 97533122 single base substitution C T intron_variant THCA-SA 6 97533122 97533122 single base substitution C T missense_variant R109C 325C>T THCA-SA 6 97533122 97533122 single base substitution C T missense_variant R142C 424C>T THCA-SA 6 97533122 97533122 single base substitution C T missense_variant R178C 532C>T THCA-SA 6 97533122 97533122 single base substitution C T missense_variant R74C 220C>T THCA-SA 6 97561886 97561886 single base substitution A G 3_prime_UTR_variant THCA-SA 6 97561886 97561886 single base substitution A G intron_variant THCA-SA 6 97561886 97561886 single base substitution A G synonymous_variant R216R 648A>G THCA-SA 6 97561886 97561886 single base substitution A G synonymous_variant R249R 747A>G THCA-SA 6 97561886 97561886 single base substitution A G synonymous_variant R285R 855A>G THCA-SA 6 97587567 97587567 single base substitution G A 3_prime_UTR_variant THCA-SA 6 97587567 97587567 single base substitution G A downstream_gene_variant THCA-SA 6 97591680 97591680 single base substitution G A downstream_gene_variant THCA-US 6 97561919 97561919 single base substitution G A 3_prime_UTR_variant THCA-US 6 97561919 97561919 single base substitution G A intron_variant THCA-US 6 97561919 97561919 single base substitution G A synonymous_variant G227G 681G>A THCA-US 6 97561919 97561919 single base substitution G A synonymous_variant G260G 780G>A THCA-US 6 97561919 97561919 single base substitution G A synonymous_variant G296G 888G>A UCEC-US 6 97423913 97423913 single base substitution G A 5_prime_UTR_variant UCEC-US 6 97423913 97423913 single base substitution G A missense_variant E22K 64G>A UCEC-US 6 97533123 97533123 single base substitution G A intron_variant UCEC-US 6 97533123 97533123 single base substitution G A missense_variant R109H 326G>A UCEC-US 6 97533123 97533123 single base substitution G A missense_variant R142H 425G>A UCEC-US 6 97533123 97533123 single base substitution G A missense_variant R178H 533G>A UCEC-US 6 97533123 97533123 single base substitution G A missense_variant R74H 221G>A UCEC-US 6 97561844 97561844 single base substitution C A 3_prime_UTR_variant UCEC-US 6 97561844 97561844 single base substitution C A intron_variant UCEC-US 6 97561844 97561844 single base substitution C A synonymous_variant I202I 606C>A UCEC-US 6 97561844 97561844 single base substitution C A synonymous_variant I235I 705C>A UCEC-US 6 97561844 97561844 single base substitution C A synonymous_variant I271I 813C>A UCEC-US 6 97561896 97561896 single base substitution G T 3_prime_UTR_variant UCEC-US 6 97561896 97561896 single base substitution G T intron_variant UCEC-US 6 97561896 97561896 single base substitution G T missense_variant D220Y 658G>T UCEC-US 6 97561896 97561896 single base substitution G T missense_variant D253Y 757G>T UCEC-US 6 97561896 97561896 single base substitution G T missense_variant D289Y 865G>T UCEC-US 6 97561929 97561929 single base substitution G A 3_prime_UTR_variant UCEC-US 6 97561929 97561929 single base substitution G A intron_variant UCEC-US 6 97561929 97561929 single base substitution G A missense_variant E231K 691G>A UCEC-US 6 97561929 97561929 single base substitution G A missense_variant E264K 790G>A UCEC-US 6 97561929 97561929 single base substitution G A missense_variant E300K 898G>A UCEC-US 6 97562121 97562121 single base substitution G A downstream_gene_variant UCEC-US 6 97562121 97562121 single base substitution G A intron_variant UCEC-US 6 97562121 97562121 single base substitution G A missense_variant A295T 883G>A UCEC-US 6 97562121 97562121 single base substitution G A missense_variant A328T 982G>A UCEC-US 6 97562121 97562121 single base substitution G A missense_variant A364T 1090G>A UCEC-US 6 97562270 97562270 single base substitution G A downstream_gene_variant UCEC-US 6 97562270 97562270 single base substitution G A intron_variant UCEC-US 6 97562270 97562270 single base substitution G A synonymous_variant L344L 1032G>A UCEC-US 6 97562270 97562270 single base substitution G A synonymous_variant L377L 1131G>A UCEC-US 6 97562270 97562270 single base substitution G A synonymous_variant L413L 1239G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand Gp2D COSM3179130 c.854G>A p.R285Q Substitution - Missense 6:97114009-97114009 + TCGA-GN-A266-06 COSM3630700 c.1222G>A p.E408K Substitution - Missense 6:97114377-97114377 + TCGA-CJ-4903-01 COSM484473 c.1278G>T p.W426C Substitution - Missense 6:97114433-97114433 + RK069_C01 COSM1634990 c.136C>T p.L46L Substitution - coding silent 6:96976109-96976109 + TCGA-B5-A0K2-01 COSM1082738 c.898G>A p.E300K Substitution - Missense 6:97114053-97114053 + TCGA-DI-A0WH-01 COSM1082741 c.1506T>C p.N502N Substitution - coding silent 6:97130849-97130849 + TCGA-GN-A266-06 COSM3630701 c.1266G>A p.K422K Substitution - coding silent 6:97114421-97114421 + B54 COSM1754966 c.1828C>G p.L610V Substitution - Missense 6:97139247-97139247 + TCGA-66-2795-01 COSM743768 c.1163G>T p.R388L Substitution - Missense 6:97114318-97114318 + 2492722 COSM5720722 c.322G>A p.E108K Substitution - Missense 6:97064637-97064637 + Pat_63_B COSM5871264 c.287C>T p.A96V Substitution - Missense 6:97041574-97041574 + Gp5D COSM1082735 c.533G>A p.R178H Substitution - Missense 6:97085247-97085247 + CSCC-29-T COSM4520817 c.1078G>T p.G360C Substitution - Missense 6:97114233-97114233 + 126T COSM1725630 c.415T>A p.L139I Substitution - Missense 6:97085129-97085129 + Patient1_Tu COSM1235592 c.860A>G p.Q287R Substitution - Missense 6:97114015-97114015 + TCGA-CG-4305-01 COSM3876248 c.1191G>A p.E397E Substitution - coding silent 6:97114346-97114346 + CSCC-27-T COSM4561494 c.887G>A p.G296E Substitution - Missense 6:97114042-97114042 + TCGA-G4-6299-01 COSM1446542 c.1007G>A p.R336K Substitution - Missense 6:97114162-97114162 + TCGA-42-2591-01 COSM1329505 c.781G>T p.V261F Substitution - Missense 6:97113936-97113936 + TCGA-B5-A11E-01 COSM1082737 c.865G>T p.D289Y Substitution - Missense 6:97114020-97114020 + 07-232 COSM3736550 c.1460A>G p.H487R Substitution - Missense 6:97130803-97130803 + TCGA-A4-8310-01 COSM3995166 c.1000G>T p.V334L Substitution - Missense 6:97114155-97114155 + YUWAND COSM1697670 c.1060G>A p.E354K Substitution - Missense 6:97114215-97114215 + YURAY COSM5405992 c.1310C>T p.S437L Substitution - Missense 6:97114465-97114465 + TCGA-66-2742-01 COSM743773 c.197A>G p.Y66C Substitution - Missense 6:96976170-96976170 + J13_T COSM3949561 c.1202A>T p.Y401F Substitution - Missense 6:97114357-97114357 + TCGA-EE-A29M-06 COSM3630699 c.1189G>A p.E397K Substitution - Missense 6:97114344-97114344 + S02287 COSM5702137 c.576_577GG>TT p.E192_V193>DL Complex - compound substitution 6:97085290-97085291 + TCGA-CD-A4MI-01 COSM3876249 c.1272C>A p.N424K Substitution - Missense 6:97114427-97114427 + 61 COSM4759142 c.495T>A p.D165E Substitution - Missense 6:97085209-97085209 + PASLZM COSM1446536 c.552G>A p.T184T Substitution - coding silent 6:97085266-97085266 + TCGA-EE-A20F-06 COSM3630698 c.1092T>G p.A364A Substitution - coding silent 6:97114247-97114247 + BD114T COSM5503146 c.483G>T p.K161N Substitution - Missense 6:97085197-97085197 + 169 COSM3729348 c.958A>G p.I320V Substitution - Missense 6:97114113-97114113 + 40M COSM5585624 c.1217G>T p.R406I Substitution - Missense 6:97114372-97114372 + TCGA-D1-A0ZS-01 COSM1082740 c.1239G>A p.L413L Substitution - coding silent 6:97114394-97114394 + PCSI_0083_Pa_P_526 COSM3781221 c.627+9G>A p.? Unknown 6:97085350-97085350 + PT55 COSM5942043 c.31G>A p.E11K Substitution - Missense 6:96976004-96976004 + pfg069T COSM4759126 c.13C>T p.R5C Substitution - Missense 6:96967073-96967073 + Gp5D COSM3179130 c.854G>A p.R285Q Substitution - Missense 6:97114009-97114009 + CSCC-18-T COSM4472040 c.1756C>T p.P586S Substitution - Missense 6:97139175-97139175 + CN-AML-NR-47-Dx COSM3179111 c.202C>T p.R68W Substitution - Missense 6:96976175-96976175 + HCC002T COSM5819306 c.260G>C p.G87A Substitution - Missense 6:97041547-97041547 + TCGA-24-1563-01 COSM75168 c.1763C>T p.A588V Substitution - Missense 6:97139182-97139182 + T3306 COSM4696528 c.588C>T p.S196S Substitution - coding silent 6:97085302-97085302 + B54-Tumor COSM1754966 c.1828C>G p.L610V Substitution - Missense 6:97139247-97139247 + DLD1 COSM4625865 c.1171T>C p.F391L Substitution - Missense 6:97114326-97114326 + 12T COSM106344 c.1192G>A p.E398K Substitution - Missense 6:97114347-97114347 + LUAD-F00368 COSM341458 c.1090G>T p.A364S Substitution - Missense 6:97114245-97114245 + Pat_66_A COSM5871266 c.1771G>A p.G591R Substitution - Missense 6:97139190-97139190 + TCGA-IM-A3ED-01 COSM3983994 c.888G>A p.G296G Substitution - coding silent 6:97114043-97114043 + CSCC-41-T COSM4551303 c.525G>A p.L175L Substitution - coding silent 6:97085239-97085239 + TCGA-D1-A16X-01 COSM1082734 c.64G>A p.E22K Substitution - Missense 6:96976037-96976037 + 2492721 COSM5720722 c.322G>A p.E108K Substitution - Missense 6:97064637-97064637 + S00501 COSM312374 c.209T>C p.M70T Substitution - Missense 6:97041496-97041496 + ESCC-015T COSM3941888 c.1133G>A p.W378* Substitution - Nonsense 6:97114288-97114288 + TCGA-AA-3713-01 COSM1446541 c.953C>A p.A318D Substitution - Missense 6:97114108-97114108 + 18D COSM1235236 c.1082G>A p.R361Q Substitution - Missense 6:97114237-97114237 + PT35 COSM3922272 c.796G>A p.E266K Substitution - Missense 6:97113951-97113951 + TCGA-GV-A3QH-01 COSM1312462 c.828C>T p.V276V Substitution - coding silent 6:97113983-97113983 + BD121T COSM3179130 c.854G>A p.R285Q Substitution - Missense 6:97114009-97114009 + TCGA-AO-A03M-01 COSM3831257 c.353C>T p.A118V Substitution - Missense 6:97064668-97064668 + HCC136 COSM1622050 c.1108C>T p.R370C Substitution - Missense 6:97114263-97114263 + KM12 COSM3179122 c.603C>T p.S201S Substitution - coding silent 6:97085317-97085317 + CSCC-27-T COSM4543235 c.333G>A p.V111V Substitution - coding silent 6:97064648-97064648 + YUBER COSM1697667 c.271C>T p.L91F Substitution - Missense 6:97041558-97041558 + TCGA-22-1016-01 COSM743770 c.724C>A p.H242N Substitution - Missense 6:97113879-97113879 + DLD1 COSM4611660 c.278_279insA p.Q95fs*47 Insertion - Frameshift 6:97041565-97041566 + TCGA-AA-A010-01 COSM282282 c.848A>T p.K283I Substitution - Missense 6:97114003-97114003 + YUBER COSM1697669 c.802C>T p.H268Y Substitution - Missense 6:97113957-97113957 + XHDG42 COSM4770141 c.1322G>T p.G441V Substitution - Missense 6:97114477-97114477 + 2334191 COSM321284 c.1333G>C p.D445H Substitution - Missense 6:97114488-97114488 + T3105 COSM4696531 c.1755C>G p.L585L Substitution - coding silent 6:97139174-97139174 + TCGA-18-3409-01 COSM743771 c.411G>A p.Q137Q Substitution - coding silent 6:97064726-97064726 + TCGA-CA-6717-01 COSM1446535 c.217C>A p.L73I Substitution - Missense 6:97041504-97041504 + GC_307T-GC_307N COSM4771672 c.6G>A p.P2P Substitution - coding silent 6:96967066-96967066 + D28 COSM5545202 c.1140G>A p.E380E Substitution - coding silent 6:97114295-97114295 + 2492721 COSM5720724 c.492C>T p.I164I Substitution - coding silent 6:97085206-97085206 + HN_62741 COSM124007 c.874T>C p.Y292H Substitution - Missense 6:97114029-97114029 + TCGA-B0-5696-01 COSM484472 c.511C>T p.L171F Substitution - Missense 6:97085225-97085225 + TCGA-D1-A103-01 COSM1082734 c.64G>A p.E22K Substitution - Missense 6:96976037-96976037 + TCGA-B0-5096-01 COSM484471 c.497T>G p.F166C Substitution - Missense 6:97085211-97085211 + TCGA-D1-A167-01 COSM1082735 c.533G>A p.R178H Substitution - Missense 6:97085247-97085247 + 2334202 COSM321285 c.916G>A p.E306K Substitution - Missense 6:97114071-97114071 + ATL089 COSM5710265 c.1606+2C>A p.? Unknown 6:97130951-97130951 + TCGA-A2-A04P-01 COSM451953 c.623G>T p.W208L Substitution - Missense 6:97085337-97085337 + PT37 COSM5919003 c.1004G>A p.G335E Substitution - Missense 6:97114159-97114159 + TCGA-AP-A059-01 COSM1082736 c.813C>A p.I271I Substitution - coding silent 6:97113968-97113968 + RKO COSM3179135 c.1109G>A p.R370H Substitution - Missense 6:97114264-97114264 + TCGA-EI-6917-01 COSM3430967 c.1685C>A p.P562H Substitution - Missense 6:97132731-97132731 + 2492723 COSM5720722 c.322G>A p.E108K Substitution - Missense 6:97064637-97064637 + PT08_2 COSM3630699 c.1189G>A p.E397K Substitution - Missense 6:97114344-97114344 + PD24214a COSM168091 c.922C>T p.R308W Substitution - Missense 6:97114077-97114077 + S00501 COSM312374 c.209T>C p.M70T Substitution - Missense 6:97041496-97041496 + HCC136T COSM1622050 c.1108C>T p.R370C Substitution - Missense 6:97114263-97114263 + PD14473a COSM5770777 c.592C>T p.R198C Substitution - Missense 6:97085306-97085306 + TCGA-DK-A1AC-01 COSM1312463 c.1788C>T p.F596F Substitution - coding silent 6:97139207-97139207 + TCGA-A3-3320-01 COSM1496416 c.1702-2A>T p.? Unknown 6:97139119-97139119 + TCGA-F5-6814-01 COSM3430966 c.939T>A p.V313V Substitution - coding silent 6:97114094-97114094 + CN-AML-47-T COSM3179111 c.202C>T p.R68W Substitution - Missense 6:96976175-96976175 + 2521259 COSM5890190 c.296T>C p.F99S Substitution - Missense 6:97041583-97041583 + pfg181T COSM4759144 c.1075A>G p.S359G Substitution - Missense 6:97114230-97114230 + 587376 COSM1212645 c.1430G>A p.R477H Substitution - Missense 6:97130773-97130773 + HCC104T COSM1622051 c.1767C>A p.S589S Substitution - coding silent 6:97139186-97139186 + SA031 COSM212995 c.678G>T p.E226D Substitution - Missense 6:97113833-97113833 + LP6007533-DNA_A01 COSM5032966 c.24-8C>T p.? Unknown 6:96975989-96975989 + D4 COSM5007488 c.1524T>C p.N508N Substitution - coding silent 6:97130867-97130867 + LUAD-B02477 COSM335925 c.1138G>T p.E380* Substitution - Nonsense 6:97114293-97114293 + ESCC_91 COSM5636952 c.282G>A p.K94K Substitution - coding silent 6:97041569-97041569 + PT38 COSM5922526 c.1399T>A p.Y467N Substitution - Missense 6:97127448-97127448 + LUAD-B01811 COSM334745 c.110G>T p.S37I Substitution - Missense 6:96976083-96976083 + TCGA-EI-6507-01 COSM1568212 c.1229G>A p.R410H Substitution - Missense 6:97114384-97114384 + 587286 COSM1212644 c.1111T>C p.Y371H Substitution - Missense 6:97114266-97114266 + TCGA-EE-A3J5-06 COSM3630696 c.201C>T p.F67F Substitution - coding silent 6:96976174-96976174 + 2521259 COSM5890191 c.1347G>A p.W449* Substitution - Nonsense 6:97114502-97114502 + TCGA-EE-A20C-06 COSM3630697 c.991C>T p.P331S Substitution - Missense 6:97114146-97114146 + TCGA-DA-A1I5-06 COSM168091 c.922C>T p.R308W Substitution - Missense 6:97114077-97114077 + T3202 COSM4696524 c.485C>T p.A162V Substitution - Missense 6:97085199-97085199 + sysucc-783T COSM5484879 c.931A>G p.N311D Substitution - Missense 6:97114086-97114086 + TCGA-46-3769-01 COSM743772 c.205-1G>T p.? Unknown 6:97041491-97041491 + S01297 COSM5667735 c.1068G>A p.E356E Substitution - coding silent 6:97114223-97114223 + 1604875 COSM141173 c.602C>T p.S201F Substitution - Missense 6:97085316-97085316 + T1764 COSM4696530 c.1751C>T p.T584I Substitution - Missense 6:97139170-97139170 + LUAD-B00915 COSM333056 c.1122C>T p.R374R Substitution - coding silent 6:97114277-97114277 + ESO-184 COSM1255981 c.258C>T p.H86H Substitution - coding silent 6:97041545-97041545 + 2492723 COSM5720724 c.492C>T p.I164I Substitution - coding silent 6:97085206-97085206 + 8050103 COSM3394361 c.1752A>G p.T584T Substitution - coding silent 6:97139171-97139171 + TCGA-AY-6197-01 COSM1446538 c.701G>A p.G234D Substitution - Missense 6:97113856-97113856 + 2492720 COSM5720724 c.492C>T p.I164I Substitution - coding silent 6:97085206-97085206 + PD6411a COSM5799305 c.5C>A p.P2Q Substitution - Missense 6:96967065-96967065 + LUAD_E00565 COSM389584 c.39G>T p.L13L Substitution - coding silent 6:96976012-96976012 + TCGA-CA-5797-01 COSM1446543 c.1230C>G p.R410R Substitution - coding silent 6:97114385-97114385 + HCA7 COSM4631146 c.853C>T p.R285* Substitution - Nonsense 6:97114008-97114008 + T578 COSM4696526 c.498C>A p.F166L Substitution - Missense 6:97085212-97085212 + pfg222T COSM4759138 c.386A>C p.N129T Substitution - Missense 6:97064701-97064701 + pfg059T COSM3179135 c.1109G>A p.R370H Substitution - Missense 6:97114264-97114264 + TCGA-CZ-5463-01 COSM484470 c.28C>A p.Q10K Substitution - Missense 6:96976001-96976001 + TCGA-PD-A5DF-01 COSM4909788 c.695G>A p.R232H Substitution - Missense 6:97113850-97113850 + CSCC-29-T COSM4515385 c.1080_1081CC>AT p.R361W Substitution - Missense 6:97114235-97114236 + pfg181T COSM4759142 c.495T>A p.D165E Substitution - Missense 6:97085209-97085209 + pfg018T COSM1643180 c.1162C>T p.R388W Substitution - Missense 6:97114317-97114317 + TCGA-AP-A054-01 COSM1082739 c.1090G>A p.A364T Substitution - Missense 6:97114245-97114245 + TCGA-AA-A00N-01 COSM298708 c.493G>A p.D165N Substitution - Missense 6:97085207-97085207 + TCGA-LG-A6GG-01 COSM4939390 c.359G>T p.S120I Substitution - Missense 6:97064674-97064674 + 2521262 COSM5891932 c.977G>A p.W326* Substitution - Nonsense 6:97114132-97114132 + YUPROST COSM1697671 c.1615G>A p.E539K Substitution - Missense 6:97132661-97132661 + PD3849a COSM162030 c.1241C>G p.P414R Substitution - Missense 6:97114396-97114396 + YUDUTY COSM1697668 c.613G>C p.E205Q Substitution - Missense 6:97085327-97085327 + 8031556 COSM168091 c.922C>T p.R308W Substitution - Missense 6:97114077-97114077 + TCGA-13-0910-01 COSM81357 c.456C>T p.D152D Substitution - coding silent 6:97085170-97085170 + TCGA-AA-A00E-01 COSM298289 c.543A>C p.E181D Substitution - Missense 6:97085257-97085257 + 2492722 COSM5720724 c.492C>T p.I164I Substitution - coding silent 6:97085206-97085206 + TCGA-DK-A3X1-01 COSM3777922 c.259G>A p.G87S Substitution - Missense 6:97041546-97041546 + Pat_24_A COSM5871265 c.1057G>A p.G353R Substitution - Missense 6:97114212-97114212 + PT46 COSM5928825 c.1145C>T p.A382V Substitution - Missense 6:97114300-97114300 + TCGA-EE-A2MC-06 COSM3922272 c.796G>A p.E266K Substitution - Missense 6:97113951-97113951 + B105-1-Tumor COSM150142 c.386A>G p.N129S Substitution - Missense 6:97064701-97064701 + TCGA-18-5592-01 COSM743769 c.816T>C p.Y272Y Substitution - coding silent 6:97113971-97113971 + NB-1931 COSM1285805 c.1082G>T p.R361L Substitution - Missense 6:97114237-97114237 + STC252 COSM5062002 c.746C>A p.P249H Substitution - Missense 6:97113901-97113901 + TCGA-BR-4292-01 COSM3876251 c.1837C>T p.P613S Substitution - Missense 6:97139256-97139256 + SH-0622 COSM5017808 c.744delC p.V251fs*70 Deletion - Frameshift 6:97113899-97113899 + YUFIT COSM1622050 c.1108C>T p.R370C Substitution - Missense 6:97114263-97114263 + BD117T COSM5507407 c.1144G>A p.A382T Substitution - Missense 6:97114299-97114299 + TCGA-BR-8680-01 COSM3876250 c.1293C>A p.S431S Substitution - coding silent 6:97114448-97114448 + TCGA-EE-A17X-06 COSM3630702 c.1738T>A p.F580I Substitution - Missense 6:97139157-97139157 + PT35 COSM5912454 c.1130C>T p.S377F Substitution - Missense 6:97114285-97114285 + TCGA-BR-4184-01 COSM1568212 c.1229G>A p.R410H Substitution - Missense 6:97114384-97114384 + TCGA-D9-A6EA-06 COSM4398253 c.1860C>T p.I620I Substitution - coding silent 6:97139279-97139279 + TCGA-18-3421-01 COSM81357 c.456C>T p.D152D Substitution - coding silent 6:97085170-97085170 + TCGA-AA-A010-01 COSM299288 c.4C>T p.P2S Substitution - Missense 6:96967064-96967064 + TCGA-A6-6654-01 COSM1446540 c.895C>T p.R299C Substitution - Missense 6:97114050-97114050 + TCGA-BR-8680-01 COSM3876246 c.195C>A p.D65E Substitution - Missense 6:96976168-96976168 + CSCC-27-T COSM1082738 c.898G>A p.E300K Substitution - Missense 6:97114053-97114053 + HCC104 COSM1622051 c.1767C>A p.S589S Substitution - coding silent 6:97139186-97139186 + SC_9034 COSM5562194 c.999T>C p.P333P Substitution - coding silent 6:97114154-97114154 + TCGA-25-2392-01 COSM71362 c.1013A>G p.H338R Substitution - Missense 6:97114168-97114168 + TCGA-AZ-4315-01 COSM1446537 c.618G>T p.Q206H Substitution - Missense 6:97085332-97085332 + TCGA-AY-6197-01 COSM1446544 c.1578G>A p.W526* Substitution - Nonsense 6:97130921-97130921 + GC8_T COSM150142 c.386A>G p.N129S Substitution - Missense 6:97064701-97064701 + LUAD-NYU408 COSM374547 c.11A>T p.E4V Substitution - Missense 6:96967071-96967071 + TCGA-CG-5721-01 COSM3876247 c.1077T>C p.S359S Substitution - coding silent 6:97114232-97114232 + 2492720 COSM5720722 c.322G>A p.E108K Substitution - Missense 6:97064637-97064637 + YUFERY COSM5405990 c.557C>T p.P186L Substitution - Missense 6:97085271-97085271 + TCGA-EE-A3AH-06 COSM1568212 c.1229G>A p.R410H Substitution - Missense 6:97114384-97114384 + Au1 COSM5596938 c.1253G>A p.R418Q Substitution - Missense 6:97114408-97114408 + CSCC-31-T COSM4520311 c.1051G>T p.A351S Substitution - Missense 6:97114206-97114206 + C089 COSM5543075 c.159C>T p.F53F Substitution - coding silent 6:96976132-96976132 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.45056 6q16.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - A 3-UTRInsertion . c.1860+6dupA 6 97587158 CM A C Missense p.S177R c.529A>C 6 97533119 COREAD A G IntronicSNV . c.1-15279A>G 6 97399658 CLL A G IntronicSNV . c.1354+126A>G 6 97562511 ESCA A G Missense p.H338R c.1013A>G 6 97562044 OV A G Missense p.Y66C c.197A>G 6 97424046 LUSC C A Missense p.H242N c.724C>A 6 97561755 LUSC C A Missense p.L124M c.370C>A 6 97512561 HNSC C A Missense p.Q10K c.28C>A 6 97423877 RCCC C A Synonymous p.P331P c.993C>A 6 97562024 HNSC CC TT Missense p.S377F c.1130_1131delinsTT 6 97562161 CM C G Missense p.P414R c.1241C>G 6 97562272 BRCA C G Missense p.R374G c.1120C>G 6 97562151 LUAD C T Missense p.A588V c.1763C>T 6 97587058 OV C T Missense p.P331S c.991C>T 6 97562022 CM C T Missense p.P613S c.1837C>T 6 97587132 STAD C T Missense p.R308W c.922C>T 6 97561953 CM C T Missense p.R388W c.1162C>T 6 97562193 STAD C T Synonymous p.D152D c.456C>T 6 97533046 LUSC C T Synonymous p.D152D c.456C>T 6 97533046 OV C T Synonymous p.F67F c.201C>T 6 97424050 CM C T Synonymous p.H86H c.258C>T 6 97489421 ESCA C T Synonymous p.L46L c.136C>T 6 97423985 HC C T Synonymous p.S337S c.1011C>T 6 97562042 HNSC C T Synonymous p.V276V c.828C>T 6 97561859 BLCA G A 3-UTRSNV . c.1860+7G>A 6 97587162 CM - GAAAA IntronicInsertion . c.411+5684_411+5685insGAAAA 6 97518286 CLL G A IntronicSNV . c.411+6140G>A 6 97518742 PIA G A Missense p.A364T c.1090G>A 6 97562121 UCEC G A Missense p.E266K c.796G>A 6 97561827 CM G A Missense p.E300K c.898G>A 6 97561929 UCEC G A Missense p.E306K c.916G>A 6 97561947 SCLC G A Missense p.E397K c.1189G>A 6 97562220 CM G A Missense p.R410H c.1229G>A 6 97562260 CM G A Synonymous p.E397E c.1191G>A 6 97562222 STAD G A Synonymous p.G296G c.888G>A 6 97561919 THCA G A Synonymous p.L413L c.1239G>A 6 97562270 UCEC G C 3-UTRSNV . c.1860+2G>C 6 97587157 LUAD G C Missense p.D445H c.1333G>C 6 97562364 SCLC G C Missense p.S8T c.23G>C 6 97414959 HNSC G - Frameshift p.G119Afs*21 c.356delG 6 97512545 LUSC G T Missense p.E226D c.678G>T 6 97561709 BRCA G T Missense p.R361L c.1082G>T 6 97562113 NB G T Missense p.R388L c.1163G>T 6 97562194 LUSC G T Missense p.R68L c.203G>T 6 97424052 LUAD G T Missense p.W208L c.623G>T 6 97533213 BRCA G T Missense p.W426C c.1278G>T 6 97562309 RCCC G T SpliceAcceptorSNV . c.205-1G>T 6 97489367 LUSC T A Missense p.F580I c.1738T>A 6 97587033 CM T C Missense p.M70T c.209T>C 6 97489372 SCLC T C Missense p.Y292H c.874T>C 6 97561905 HNSC T C Synonymous p.Y272Y c.816T>C 6 97561847 LUSC T G Synonymous p.A364A c.1092T>G 6 97562123 CM